Gene Scoring 1195 total scored genes, 94 uncategorized
Database updated on July 12, 2026
Scoring process
We recognize that the gene scoring process we developed is only one of many methodologies that could have been employed to evaluate these genes. Our goal is to encourage more research, not less, and we hope that researchers will use these evaluations to design new experiments aimed at strengthening the evidence associating each gene with ASD. For more information on our scoring process, visit the About Gene Scoring page.
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S Category S [218 genes]
Download this dataset| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ACTB | actin beta | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| ADGRL1 | adhesion G protein-coupled receptor L1 | 19 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 105 | |
| ADSL | adenylosuccinate lyase | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| AGO2 | argonaute RISC catalytic component 2 | 8 | Rare Single Gene Mutation, Syndromic | 2 | S | 6 | |
| AHDC1 | AT-hook DNA binding motif containing 1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 38 | |
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 92 | |
| ANKRD17 | ankyrin repeat domain 17 | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | 9 | |
| ANKS1B | ankyrin repeat and sterile alpha motif domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 9 | |
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 24 | |
| ARID1A | AT-rich interaction domain 1A | 1 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 11 | |
| ARID1B | AT-rich interaction domain 1B | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 106 | |
| ARID2 | AT-rich interaction domain 2 | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 23 | |
| ARX | aristaless related homeobox | X | Rare Single Gene Mutation, Syndromic | 1 | S | 28 | |
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 67 | |
| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1 | Rare Single Gene Mutation, Syndromic | 2 | S | 12 | |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 29 | |
| ATP2B1 | ATPase plasma membrane Ca2+ transporting 1 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| ATP9A | ATPase phospholipid transporting 9A | 20 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 34 | |
| BICRA | BRD4 interacting chromatin remodeling complex associated protein | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
| BRAF | v-raf murine sarcoma viral oncogene homolog B | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 23 | |
| BRSK2 | BR serine/threonine kinase 2 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 18 | |
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 55 | |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 69 | |
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 17 | |
| CAMK2D | calcium/calmodulin dependent protein kinase II delta | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| CBX1 | chromobox 1 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| CDH2 | cadherin 2 | 18 | Rare Single Gene Mutation, Syndromic | 3 | S | 8 | |
| CDK19 | cyclin dependent kinase 19 | 6 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| CDKL5 | cyclin-dependent kinase-like 5 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 67 | |
| CELF2 | CUGBP Elav-like family member 2 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 7 | |
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 17 | |
| CERT1 | ceramide transporter 1 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | 10 | |
| CHAMP1 | chromosome alignment maintaining phosphoprotein 1 | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 20 | |
| CHD1 | chromodomain helicase DNA binding protein 1 | 5 | Rare Single Gene Mutation, Syndromic | 2 | S | 17 | |
| CHD2 | Chromodomain helicase DNA binding protein 2 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 98 | |
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 30 | |
| CHD4 | chromodomain helicase DNA binding protein 4 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 8 | |
| CHD7 | chromodomain helicase DNA binding protein 7 | 8 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 56 | |
| CHD8 | chromodomain helicase DNA binding protein 8 | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 144 | |
| CLCN4 | chloride voltage-gated channel 4 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 19 | |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 18 | |
| CNOT1 | CCR4-NOT transcription complex subunit 1 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
| CNOT3 | CCR4-NOT transcription complex subunit 3 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 28 | |
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | 111 | |
| CREBBP | CREB binding protein | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 50 | |
| CSDE1 | cold shock domain containing E1 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10 | |
| CSNK1G1 | casein kinase 1 gamma 1 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| CSNK2A1 | casein kinase 2 alpha 1 | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| CTCF | CCCTC-binding factor | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 29 | |
| CTR9 | CTR9homolog, Paf1/RNA polymerase II complex component | 11 | Rare Single Gene Mutation, Syndromic | 3 | S | 10 | |
| CUL4B | cullin 4B | X | Rare Single Gene Mutation | 3 | S | 5 | |
| CUX2 | cut like homeobox 2 | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 18 | |
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 69 | |
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 46 | |
| DENND2B | DENN domain containing 2B | 11 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| DHCR7 | 7-dehydrocholesterol reductase | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| DHX9 | DExH-box helicase 9 | 1 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| DLL1 | delta like canonical Notch ligand 1 | 6 | Rare Single Gene Mutation, Syndromic | 2 | S | 6 | |
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 15 | |
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| DOT1L | DOT1 like histone lysine methyltransferase | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 6 | |
| DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 99 | |
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 29 | |
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 50 | |
| ELP2 | elongator acetyltransferase complex subunit 2 | 18 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 36 | |
| FBXO11 | F-box protein 11 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 21 | |
| FGF13 | fibroblast growth factor 13 | X | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 4 | |
| FMR1 | fragile X messenger ribonucleoprotein 1 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 78 | |
| FOXG1 | Forkhead box G1 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 69 | |
| FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 95 | |
| FRMD5 | FERM domain containing 5 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 7 | |
| FRYL | FRY like transcription coactivator | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 11 | |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 19 | |
| GNAI1 | G protein subunit alpha i1 | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| H3-3B | H3.3 histone B | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | S | 8 | |
| HDAC4 | histone deacetylase 4 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 19 | |
| HERC1 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 15 | |
| HIVEP2 | HIVEP zinc finger 2 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 20 | |
| HNRNPD | heterogeneous nuclear ribonucleoprotein D | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
| HNRNPK | heterogeneous nuclear ribonucleoprotein K | 9 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
| HNRNPR | heterogeneous nuclear ribonucleoprotein R | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 10 | |
| HNRNPU | heterogeneous nuclear ribonucleoprotein U | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 44 | |
| HNRNPUL2 | heterogeneous nuclear ribonucleoprotein U like 2 | 11 | Rare Single Gene Mutation, Syndromic | 2 | S | 4 | |
| IQSEC2 | IQ motif and Sec7 domain 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 62 | |
| IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 1 | S | 22 | |
| IRX5 | iroquois homeobox 5 | 16 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| KANSL1 | KAT8 regulatory NSL complex subunit 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 14 | |
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 39 | |
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 35 | |
| KCNH1 | potassium voltage-gated channel subfamily H member 1 | 1 | Rare Single Gene Mutation | 3 | S | 6 | |
| KDM3B | lysine demethylase 3B | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| KIF1A | kinesin family member 1A | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 22 | |
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 20 | |
| KMT2A | Lysine (K)-specific methyltransferase 2A | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 58 | |
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 55 | |
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 28 | |
| MACF1 | microtubule actin crosslinking factor 1 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 14 | |
| MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 33 | |
| MAPK8IP3 | mitogen-activated protein kinase 8 interacting protein 3 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 13 | |
| MBD5 | Methyl-CpG binding domain protein 5 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 52 | |
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 25 | |
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 164 | |
| MED12L | mediator complex subunit 12L | 3 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 26 | |
| MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 63 | |
| MEF2C | myocyte enhancer factor 2C | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 64 | |
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| MSL3 | MSL complex subunit 3 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| MSX2 | msh homeobox 2 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| MTOR | mechanistic target of rapamycin kinase | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | |
| NAA10 | N-alpha-acetyltransferase 10, NatA catalytic subunit | X | Rare Single Gene Mutation, Syndromic | 3 | S | 14 | |
| NAA15 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 34 | |
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 31 | |
| NF1 | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 50 | |
| NFIB | nuclear factor I B | 9 | Rare Single Gene Mutation, Syndromic | 2 | S | 9 | |
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| NR2F1 | nuclear receptor subfamily 2 group F member 1 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | 33 | |
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| NSD1 | nuclear receptor binding SET domain protein 1 | 5 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 42 | |
| NSD2 | nuclear receptor binding SET domain protein 2 | 4 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 18 | |
| NTNG1 | netrin G1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 8 | |
| PABPC1 | poly(A) binding protein cytoplasmic 1 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| PACS1 | phosphofurin acidic cluster sorting protein 1 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| PCCB | propionyl-CoA carboxylase beta subunit | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| PCDH19 | protocadherin 19 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 72 | |
| PHF21A | PHD finger protein 21A | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 23 | |
| PHIP | pleckstrin homology domain interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| PJA1 | praja ring finger ubiquitin ligase 1 | X | Syndromic | 3 | S | 1 | |
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 81 | |
| POLR2A | RNA polymerase II subunit A | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| POLR3A | RNA polymerase III subunit A | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 14 | |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| PPFIA3 | PTPRF interacting protein alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 8 | |
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 2 | S | 13 | |
| PPP2R5C | protein phosphatase 2 regulatory subunit B'gamma | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 6 | |
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 45 | |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 16 | |
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 10 | |
| PRPF8 | pre-mRNA processing factor 8 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| PRR12 | proline rich 12 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12 | |
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 133 | |
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| PUF60 | poly(U) binding splicing factor 60 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 45 | |
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 24 | |
| RFX4 | regulatory factor X4 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 3 | |
| RFX7 | regulatory factor X7 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| RIMS2 | regulating synaptic membrane exocytosis 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 8 | |
| RNF135 | Ring finger protein 135 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 5 | |
| RNU2-2 | RNA, U2 small nuclear 2 | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| RNU4-2 | RNA, U4 small nuclear 2 | 12 | Syndromic, Functional | 1 | S | 23 | |
| RNU5B-1 | RNA, U5B small nuclear 1 | 15 | Syndromic | 1 | S | 2 | |
| RORB | RAR related orphan receptor B | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17 | |
| RPS6KA3 | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | X | Rare Single Gene Mutation, Syndromic | 2 | S | 22 | |
| SATB1 | SATB homeobox 1 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 7 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 56 | |
| SCAF4 | SR-related CTD associated factor 4 | 21 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 119 | |
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 21 | |
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 29 | |
| SETD5 | SET domain containing 5 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 57 | |
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 199 | |
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 19 | |
| SIN3B | SIN3 transcription regulator family member B | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 9 | |
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 68 | |
| SLC9A1 | solute carrier family 9 member A1 | 1 | Rare Single Gene Mutation | 3 | S | 8 | |
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| SMARCA2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | 9 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 32 | |
| SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 23 | |
| SMC3 | structural maintenance of chromosomes 3 | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | 16 | |
| SON | SONDNA binding protein | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 31 | |
| SOX5 | SRY-box 5 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 27 | |
| SPTBN1 | spectrin beta, non-erythrocytic 1 | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 18 | |
| SRRM2 | serine/arginine repetitive matrix 2 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 16 | |
| SRSF1 | serine and arginine rich splicing factor 1 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 86 | |
| SUPT16H | SPT16 homolog, facilitates chromatin remodeling subunit | 14 | Rare Single Gene Mutation, Syndromic | 2 | S | 11 | |
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 132 | |
| TAF4 | TATA-box binding protein associated factor 4 | 20 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| TANC2 | etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| TAOK1 | TAO kinase 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 14 | |
| TBCK | TBC1 domain containing kinase | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| TCEAL1 | transcription elongation factor A like 1 | X | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | |
| TCF4 | Transcription factor 4 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 84 | |
| TLK2 | tousled-like kinase 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 30 | |
| TRAF7 | TNF receptor associated factor 7 | 16 | Rare Single Gene Mutation, Syndromic | 1 | S | 11 | |
| TRIM8 | tripartite motif containing 8 | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| TRIP12 | Thyroid hormone receptor interactor 12 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 51 | |
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 25 | |
| TSC1 | tuberous sclerosis 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 41 | |
| TSC2 | tuberous sclerosis 2 | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 72 | |
| TTN | titin | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 38 | |
| UBE3A | ubiquitin protein ligase E3A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 59 | |
| UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 | 2 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| UNC13A | unc-13 homolog A | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 13 | |
| UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 20 | |
| USP9X | ubiquitin specific peptidase 9 X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 23 | |
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 36 | |
| WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 37 | |
| YWHAG | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | 7 | Rare Single Gene Mutation, Syndromic | 3 | S | 16 | |
| YY1 | YY1transcription factor | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12 | |
| ZBTB20 | Zinc finger and BTB domain containing 20 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| ZFHX3 | zinc finger homeobox 3 | 16 | Rare Single Gene Mutation, Syndromic | 3 | S | 16 | |
| ZFHX4 | zinc finger homeobox 4 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| ZFX | zinc finger protein X-linked | X | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| ZMIZ1 | zinc finger MIZ-type containing 1 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 15 | |
| ZMYM2 | zinc finger MYM-type containing 2 | 13 | Rare Single Gene Mutation, Syndromic | 2 | S | 12 | |
| ZMYND8 | zinc finger MYND-type containing 8 | 20 | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| ZNF292 | zinc finger protein 292 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 19 | |
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 21 |
1 Category 1 [245 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ABCE1 | ATP binding cassette subfamily E member 1 | 4 | Rare Single Gene Mutation | 1 | 5 | ||
| ACTB | actin beta | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 105 | |
| ADSL | adenylosuccinate lyase | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| AFF2 | AF4/FMR2 family, member 2 | X | Rare Single Gene Mutation, Syndromic | 1 | 25 | ||
| AHDC1 | AT-hook DNA binding motif containing 1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 38 | |
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| ANK2 | Ankyrin 2, neuronal | 4 | Rare Single Gene Mutation, Functional | 1 | 45 | ||
| ANK3 | ankyrin 3 | 10 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 40 | ||
| ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 92 | |
| ANP32A | acidic nuclear phosphoprotein 32 family member A | 15 | Rare Single Gene Mutation, Functional | 1 | 5 | ||
| AP2S1 | adaptor related protein complex 2 subunit sigma 1 | 19 | Rare Single Gene Mutation, Functional | 1 | 6 | ||
| ARF3 | ADP ribosylation factor 3 | 12 | Rare Single Gene Mutation, Syndromic | 1 | 6 | ||
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 24 | |
| ARID1B | AT-rich interaction domain 1B | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 106 | |
| ARX | aristaless related homeobox | X | Rare Single Gene Mutation, Syndromic | 1 | S | 28 | |
| ASH1L | Ash1 (absent, small, or homeotic)-like (Drosophila) | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 55 | ||
| ASTN1 | astrotactin 1 | 1 | Rare Single Gene Mutation | 1 | 6 | ||
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 67 | |
| ATRX | alpha thalassemia/mental retardation syndrome X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | 44 | ||
| AUTS2 | activator of transcription and developmental regulatorAUTS2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 84 | ||
| BAZ2B | bromodomain adjacent to zinc finger domain 2B | 2 | Rare Single Gene Mutation | 1 | 11 | ||
| BCKDK | Branched chain ketoacid dehydrogenase kinase | 16 | Rare Single Gene Mutation, Functional | 1 | 11 | ||
| BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 34 | |
| BRAF | v-raf murine sarcoma viral oncogene homolog B | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 23 | |
| BRSK2 | BR serine/threonine kinase 2 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 18 | |
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 55 | |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 69 | |
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 1 | 27 | ||
| CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation, Functional | 1 | 18 | ||
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 17 | |
| CAMTA2 | calmodulin binding transcription activator 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | 4 | ||
| CAPRIN1 | Cell cycle associated protein 1 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 9 | ||
| CASK | calcium/calmodulin dependent serine protein kinase | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | 32 | ||
| CASZ1 | castor zinc finger 1 | 1 | Rare Single Gene Mutation | 1 | 11 | ||
| CDKL5 | cyclin-dependent kinase-like 5 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 67 | |
| CELF4 | CUGBP, Elav-like family member 4 | 18 | Rare Single Gene Mutation, Functional | 1 | 16 | ||
| CHAMP1 | chromosome alignment maintaining phosphoprotein 1 | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 20 | |
| CHD2 | Chromodomain helicase DNA binding protein 2 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 98 | |
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 30 | |
| CHD7 | chromodomain helicase DNA binding protein 7 | 8 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 56 | |
| CHD8 | chromodomain helicase DNA binding protein 8 | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 144 | |
| CIC | capicua transcriptional repressor | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 20 | ||
| CNOT3 | CCR4-NOT transcription complex subunit 3 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 28 | |
| CORO1A | coronin 1A | 16 | Rare Single Gene Mutation | 1 | 4 | ||
| CPSF7 | cleavage and polyadenylation specific factor 7 | 11 | Rare Single Gene Mutation | 1 | 9 | ||
| CREBBP | CREB binding protein | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 50 | |
| CSDE1 | cold shock domain containing E1 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10 | |
| CSNK2A1 | casein kinase 2 alpha 1 | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| CTCF | CCCTC-binding factor | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 29 | |
| CTNNB1 | catenin beta 1 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 50 | ||
| CUL3 | Cullin 3 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 45 | ||
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 69 | |
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 46 | |
| DHCR7 | 7-dehydrocholesterol reductase | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila) | 21 | Rare Single Gene Mutation, Functional | 1 | 15 | ||
| DLG4 | discs large MAGUK scaffold protein 4 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 27 | ||
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 15 | |
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 41 | |
| DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 18 | ||
| DSCAM | Down syndrome cell adhesion molecule | 21 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 24 | ||
| DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 43 | ||
| DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 99 | |
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 29 | |
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 50 | |
| EIF3G | eukaryotic translation initiation factor 3 subunit G | 19 | Rare Single Gene Mutation | 1 | 5 | ||
| ELAVL3 | ELAV like neuron-specific RNA binding protein 3 | 19 | Rare Single Gene Mutation | 1 | 7 | ||
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 36 | |
| FMR1 | fragile X messenger ribonucleoprotein 1 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 78 | |
| FOXG1 | Forkhead box G1 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 69 | |
| FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 95 | |
| FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 63 | ||
| GABRB2 | gamma-aminobutyric acid type A receptor subunit beta2 | 5 | Rare Single Gene Mutation | 1 | 7 | ||
| GABRB3 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 54 | ||
| GFAP | glial fibrillary acidic protein | 17 | Rare Single Gene Mutation | 1 | 3 | ||
| GIGYF1 | GRB10 interacting GYF protein 1 | 7 | Rare Single Gene Mutation | 1 | 23 | ||
| GIGYF2 | GRB10 interacting GYF protein 2 | 2 | Rare Single Gene Mutation | 1 | 12 | ||
| GNAI1 | G protein subunit alpha i1 | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| GRIA2 | glutamate ionotropic receptor AMPA type subunit 2 | 4 | Rare Single Gene Mutation | 1 | 18 | ||
| GRIN1 | Glutamate receptor, ionotropic, N-methyl D-aspartate 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 37 | ||
| GRIN2A | glutamate receptor, ionotropic, N-methyl D-aspartate 2A | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 78 | ||
| GRIN2B | glutamate receptor, inotropic, N-methyl D-apartate 2B | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 99 | ||
| HDLBP | high density lipoprotein binding protein | 2 | Rare Single Gene Mutation | 1 | 7 | ||
| HECTD4 | HECT domain E3 ubiquitin protein ligase 4 | 12 | Rare Single Gene Mutation, Syndromic | 1 | 14 | ||
| HIVEP2 | HIVEP zinc finger 2 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 20 | |
| HNRNPH2 | heterogeneous nuclear ribonucleoprotein H2 | X | Rare Single Gene Mutation, Syndromic | 1 | 22 | ||
| HNRNPU | heterogeneous nuclear ribonucleoprotein U | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 44 | |
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 14 | ||
| IQSEC2 | IQ motif and Sec7 domain 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 62 | |
| IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 1 | S | 22 | |
| KANSL1 | KAT8 regulatory NSL complex subunit 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 14 | |
| KATNAL2 | Katanin p60 subunit A-like 2 | 18 | Rare Single Gene Mutation, Functional | 1 | 20 | ||
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 35 | |
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 72 | ||
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 24 | ||
| KDM2B | lysine demethylase 2B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 16 | ||
| KDM3B | lysine demethylase 3B | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 32 | ||
| KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | 55 | ||
| KDM6B | Lysine (K)-specific demethylase 6B | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 34 | ||
| KIAA0232 | KIAA0232 | 4 | Rare Single Gene Mutation | 1 | 5 | ||
| KLHL20 | kelch like family member 20 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 5 | ||
| KMT2A | Lysine (K)-specific methyltransferase 2A | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 58 | |
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 55 | |
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 28 | |
| KMT5B | lysine methyltransferase 5B | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 35 | ||
| LDB1 | LIM domain binding 1 | 10 | Rare Single Gene Mutation | 1 | 5 | ||
| LRRC4C | leucine rich repeat containing 4C | 11 | Rare Single Gene Mutation | 1 | 4 | ||
| LZTR1 | Leucine-zipper-like transcription regulator 1 | 22 | Rare Single Gene Mutation, Syndromic | 1 | 23 | ||
| MAGEC3 | MAGE family member C3 | X | Rare Single Gene Mutation | 1 | 6 | ||
| MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 33 | |
| MAP1A | microtubule associated protein 1A | 15 | Rare Single Gene Mutation | 1 | 4 | ||
| MBD5 | Methyl-CpG binding domain protein 5 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 52 | |
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 25 | |
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 164 | |
| MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 26 | |
| MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 63 | |
| MEF2C | myocyte enhancer factor 2C | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 64 | |
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 16 | |
| MKX | mohawk homeobox | 10 | Rare Single Gene Mutation | 1 | 4 | ||
| MSL3 | MSL complex subunit 3 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| MTOR | mechanistic target of rapamycin kinase | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | |
| MYCBP2 | MYC binding protein 2 | 13 | Rare Single Gene Mutation, Syndromic | 1 | 14 | ||
| MYT1L | Myelin transcription factor 1-like | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 50 | ||
| NAA15 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 34 | |
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 31 | |
| NCKAP1 | NCK-associated protein 1 | 2 | Rare Single Gene Mutation, Syndromic | 1 | 21 | ||
| NCOA1 | nuclear receptor coactivator 1 | 2 | Rare Single Gene Mutation | 1 | 5 | ||
| NEXMIF | neurite extension and migration factor | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | 41 | ||
| NF1 | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 50 | |
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 25 | |
| NLGN2 | Neuroligin 2 | 17 | Rare Single Gene Mutation, Functional | 1 | 19 | ||
| NLGN3 | neuroligin 3 | X | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 60 | ||
| NLGN4X | neuroligin 4, X-linked | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 46 | ||
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 13 | |
| NR4A2 | nuclear receptor subfamily 4 group A member 2 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 20 | ||
| NRXN1 | neurexin 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 128 | ||
| NRXN2 | neurexin 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 20 | ||
| NRXN3 | neurexin 3 | 14 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 32 | ||
| NSD1 | nuclear receptor binding SET domain protein 1 | 5 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 42 | |
| NUP155 | nucleoporin 155 | 5 | Rare Single Gene Mutation | 1 | 5 | ||
| PACS1 | phosphofurin acidic cluster sorting protein 1 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| PAH | Phenylalanine hydroxylase | 12 | Rare Single Gene Mutation, Syndromic | 1 | 14 | ||
| PAX5 | Paired box 5 | 9 | Rare Single Gene Mutation | 1 | 10 | ||
| PCCB | propionyl-CoA carboxylase beta subunit | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| PCDH19 | protocadherin 19 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 72 | |
| PHF12 | PHD finger protein 12 | 17 | Rare Single Gene Mutation | 1 | 5 | ||
| PHF2 | PHD finger protein 2 | 9 | Rare Single Gene Mutation | 1 | 8 | ||
| PHF21A | PHD finger protein 21A | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 23 | |
| PHF3 | PHD finger protein 3 | 6 | Rare Single Gene Mutation | 1 | 7 | ||
| PHIP | pleckstrin homology domain interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 31 | |
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 81 | |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 10 | |
| PPP1R9B | protein phosphatase 1 regulatory subunit 9B | 17 | Rare Single Gene Mutation | 1 | 7 | ||
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 45 | |
| PPP5C | protein phosphatase 5 catalytic subunit | 19 | Rare Single Gene Mutation | 1 | 3 | ||
| PRMT9 | protein arginine methyltransferase 9 | 4 | Rare Single Gene Mutation, Syndromic | 1 | 4 | ||
| PRR12 | proline rich 12 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12 | |
| PRR14L | proline rich 14 like | 22 | Rare Single Gene Mutation | 1 | 6 | ||
| PSMD11 | proteasome 26S subunit, non-ATPase 11 | 17 | Rare Single Gene Mutation, Syndromic | 1 | 4 | ||
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| PSMD6 | proteasome 26S subunit, non-ATPase 6 | 3 | Rare Single Gene Mutation | 1 | 4 | ||
| PTCHD1 | patched domain containing 1 | X | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 26 | ||
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 133 | |
| PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 1 | 10 | ||
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 45 | |
| RALGAPB | Ral GTPase activating protein non-catalytic beta subunit | 20 | Rare Single Gene Mutation, Functional | 1 | 7 | ||
| RELN | Reelin | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 69 | ||
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 24 | |
| RFX3 | regulatory factor X3 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 14 | ||
| RIMS1 | Regulating synaptic membrane exocytosis 1 | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 15 | ||
| RNU2-2 | RNA, U2 small nuclear 2 | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 8 | |
| RNU4-2 | RNA, U4 small nuclear 2 | 12 | Syndromic, Functional | 1 | S | 23 | |
| RNU5B-1 | RNA, U5B small nuclear 1 | 15 | Syndromic | 1 | S | 2 | |
| RORB | RAR related orphan receptor B | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17 | |
| RUNX1T1 | RUNX1 partner transcriptional co-repressor 1 | 8 | Rare Single Gene Mutation, Syndromic | 1 | 4 | ||
| SATB1 | SATB homeobox 1 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 7 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 56 | |
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 119 | |
| SCN2A | sodium channel, voltage-gated, type II, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 167 | ||
| SCN8A | sodium channel, voltage gated, type VIII, alpha subunit | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 72 | ||
| SETBP1 | SET binding protein 1 | 18 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 44 | ||
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 21 | |
| SETD2 | SET domain containing 2 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 34 | ||
| SETD5 | SET domain containing 5 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 57 | |
| SF1 | splicing factor 1 | 11 | Rare Single Gene Mutation, Syndromic | 1 | 2 | ||
| SHANK2 | SH3 and multiple ankyrin repeat domains 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 64 | ||
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 199 | |
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 19 | |
| SKI | SKIproto-oncogene | 1 | Rare Single Gene Mutation, Syndromic | 1 | 10 | ||
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 68 | |
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| SMARCA1 | SNF2 related chromatin remodeling ATPase 1 | X | Rare Single Gene Mutation, Syndromic | 1 | 5 | ||
| SMARCA2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 | 9 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 32 | |
| SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 29 | ||
| SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 23 | |
| SON | SONDNA binding protein | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 31 | |
| SOS2 | SOS Ras/Rho guanine nucleotide exchange factor 2 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 7 | ||
| SOX5 | SRY-box 5 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 27 | |
| SPAST | Spastin | 2 | Rare Single Gene Mutation, Syndromic | 1 | 20 | ||
| SRCAP | Snf2 related CREBBP activator protein | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 22 | ||
| SRPRA | SRP receptor subunit alpha | 11 | Rare Single Gene Mutation | 1 | 4 | ||
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 86 | |
| SYN1 | Synapsin 1 | X | Rare Single Gene Mutation, Functional | 1 | 33 | ||
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 132 | |
| TANC2 | etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| TAOK1 | TAO kinase 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 14 | |
| TBCEL | tubulin folding cofactor E like | 11 | Rare Single Gene Mutation | 1 | 3 | ||
| TBCK | TBC1 domain containing kinase | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | |
| TBL1XR1 | transducin beta like 1 X-linked receptor 1 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 37 | ||
| TBR1 | T-box, brain, 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 51 | ||
| TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | |
| TCF4 | Transcription factor 4 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 84 | |
| TCF7L2 | Transcription factor 7-like 2 (T-cell specific, HMG-box) | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 14 | ||
| TEK | TEKreceptortyrosine kinase | 9 | Rare Single Gene Mutation | 1 | 5 | ||
| TLE3 | TLE family member 3, transcriptional corepressor | 15 | Rare Single Gene Mutation | 1 | 6 | ||
| TLK2 | tousled-like kinase 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 30 | |
| TM9SF4 | transmembrane 9 superfamily member 4 | 20 | Rare Single Gene Mutation | 1 | 5 | ||
| TRAF7 | TNF receptor associated factor 7 | 16 | Rare Single Gene Mutation, Syndromic | 1 | S | 11 | |
| TRIM23 | tripartite motif containing 23 | 5 | Rare Single Gene Mutation | 1 | 8 | ||
| TRIO | Trio Rho guanine nucleotide exchange factor | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 61 | ||
| TRIP12 | Thyroid hormone receptor interactor 12 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 51 | |
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 25 | |
| TSC1 | tuberous sclerosis 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 41 | |
| TSC2 | tuberous sclerosis 2 | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 72 | |
| TSHZ1 | teashirt zinc finger homeobox 1 | 18 | Rare Single Gene Mutation, Syndromic | 1 | 6 | ||
| TSHZ3 | teashirt zinc finger homeobox 3 | 19 | Rare Single Gene Mutation, Functional | 1 | 8 | ||
| UBAP2L | ubiquitin associated protein 2 like | 1 | Rare Single Gene Mutation, Syndromic | 1 | 5 | ||
| UBE3A | ubiquitin protein ligase E3A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 59 | |
| UBR1 | ubiquitin protein ligase E3 component n-recognin 1 | 15 | Rare Single Gene Mutation | 1 | 6 | ||
| UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 1 | S | 20 | |
| USP9X | ubiquitin specific peptidase 9 X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 23 | |
| VEZF1 | vascular endothelial zinc finger 1 | 17 | Rare Single Gene Mutation | 1 | 4 | ||
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 36 | |
| WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 37 | |
| WDFY3 | WD repeat and FYVE domain containing 3 | 4 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 29 | ||
| YY1 | YY1transcription factor | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12 | |
| ZBTB20 | Zinc finger and BTB domain containing 20 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34 | |
| ZBTB21 | zinc finger and BTB domain containing 21 | 21 | Rare Single Gene Mutation | 1 | 5 | ||
| ZMYND8 | zinc finger MYND-type containing 8 | 20 | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | |
| ZNF292 | zinc finger protein 292 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 19 | |
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 21 | |
| ZNF865 | zinc finger protein 865 | 19 | Rare Single Gene Mutation, Syndromic | 1 | 5 |
2 Category 2 [712 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ABAT | 4-aminobutyrate aminotransferase | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| ABCA10 | ATP-binding cassette, sub-family A (ABC1), member 10 | 17 | Rare Single Gene Mutation | 2 | 4 | ||
| ABCA13 | ATP binding cassette subfamily A member 13 | 7 | Rare Single Gene Mutation, Functional | 2 | 16 | ||
| ABCA7 | ATP-binding cassette, sub-family A (ABC1), member 7 | 19 | Rare Single Gene Mutation | 2 | 8 | ||
| ACAP2 | ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 | 3 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| ACE | angiotensin I converting enzyme | 17 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| ACHE | Acetylcholinesterase (Yt blood group) | 7 | Rare Single Gene Mutation | 2 | 8 | ||
| ACTN4 | actinin alpha 4 | 19 | Rare Single Gene Mutation | 2 | 7 | ||
| ADA | adenosine deaminase | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| ADCY3 | adenylate cyclase 3 | 2 | Rare Single Gene Mutation | 2 | 4 | ||
| ADCY5 | Adenylate cyclase 5 | 3 | Rare Single Gene Mutation | 2 | 14 | ||
| ADK | adenosine kinase | 10 | Rare Single Gene Mutation | 2 | 2 | ||
| ADORA3 | Adenosine A3 receptor | 1 | Rare Single Gene Mutation, Functional | 2 | 4 | ||
| ADSS2 | adenylosuccinate synthase 2 | 1 | Rare Single Gene Mutation | 2 | 3 | ||
| AGAP1 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 | 2 | Rare Single Gene Mutation | 2 | 10 | ||
| AGAP2 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | 12 | Rare Single Gene Mutation | 2 | 7 | ||
| AGBL4 | ATP/GTP binding protein-like 4 | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| AGMO | alkylglycerol monooxygenase | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 10 | ||
| AGO1 | argonaute 1, RISC catalytic component | 1 | Rare Single Gene Mutation | 2 | 19 | ||
| AGO2 | argonaute RISC catalytic component 2 | 8 | Rare Single Gene Mutation, Syndromic | 2 | S | 6 | |
| AGO3 | argonaute RISC catalytic component 3 | 1 | Rare Single Gene Mutation | 2 | 10 | ||
| AGO4 | argonaute RISC catalytic component 4 | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| AGTR2 | angiotensin II receptor, type 2 | X | Rare Single Gene Mutation | 2 | 6 | ||
| AHNAK | AHNAKnucleoprotein | 11 | Rare Single Gene Mutation | 2 | 9 | ||
| AKAP9 | A kinase (PRKA) anchor protein 9 | 7 | Rare Single Gene Mutation | 2 | 12 | ||
| AMPD1 | Adenosine monophosphate deaminase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| AMT | Aminomethyltransferase | 3 | Rare Single Gene Mutation | 2 | 3 | ||
| ADORA2A | adenosine A2a receptor | 22 | Genetic Association | 2 | 7 | ||
| ADRB2 | adrenergic, beta-2-, receptor, surface | 5 | Genetic Association | 2 | 10 | ||
| ANKRD17 | ankyrin repeat domain 17 | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | 9 | |
| ANKS1B | ankyrin repeat and sterile alpha motif domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 9 | |
| ANXA1 | Annexin A1 | 9 | Rare Single Gene Mutation | 2 | 2 | ||
| AP2M1 | adaptor related protein complex 2 subunit mu 1 | 3 | Rare Single Gene Mutation | 2 | 10 | ||
| APBA2 | amyloid beta (A4) precursor protein-binding, family A, member 2 | 15 | Rare Single Gene Mutation | 2 | 11 | ||
| APBB1 | amyloid beta precursor protein binding family B member 1 | 11 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| APH1A | APH1A gamma secretase subunit | 1 | Rare Single Gene Mutation | 2 | 3 | ||
| AR | androgen receptor | X | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 10 | ||
| ARHGAP11B | Rho GTPase activating protein 11B | 15 | Rare Single Gene Mutation | 2 | 4 | ||
| ARHGAP32 | Rho GTPase activating protein 32 | 11 | Rare Single Gene Mutation, Functional | 2 | 12 | ||
| ARHGAP5 | Rho GTPase activating protein 5 | 14 | Rare Single Gene Mutation | 2 | 9 | ||
| ARHGEF10 | Rho guanine nucleotide exchange factor 10 | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 10 | ||
| ARID2 | AT-rich interaction domain 2 | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 23 | |
| ARNT2 | aryl-hydrocarbon receptor nuclear translocator 2 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 16 | ||
| ASAP2 | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | 2 | Rare Single Gene Mutation | 2 | 6 | ||
| ASB14 | ankyrin repeat and SOCS box containing 14 | 3 | Rare Single Gene Mutation | 2 | 5 | ||
| ASMT | acetylserotonin O-methyltransferase | X,Y | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| ASPM | abnormal spindle microtubule assembly | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 17 | ||
| ASTN2 | astrotactin 2 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 27 | ||
| ATP10A | Probable phospholipid-transporting ATPase VA | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 11 | ||
| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1 | Rare Single Gene Mutation, Syndromic | 2 | S | 12 | |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 29 | |
| ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 19 | ||
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | 12 | Rare Single Gene Mutation | 2 | 5 | ||
| AVPR1A | arginine vasopressin receptor 1A | 12 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 27 | ||
| AZGP1 | alpha-2-glycoprotein 1, zinc-binding | 7 | Rare Single Gene Mutation | 2 | 4 | ||
| BBS4 | Bardet-Biedl syndrome 4 | 15 | Rare Single Gene Mutation, Syndromic | 2 | 8 | ||
| BCAS1 | breast carcinoma amplified sequence 1 | 20 | Rare Single Gene Mutation | 2 | 6 | ||
| BICRA | BRD4 interacting chromatin remodeling complex associated protein | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
| BIRC6 | Baculoviral IAP repeat containing 6 | 2 | Rare Single Gene Mutation | 2 | 18 | ||
| BRCA2 | breast cancer 2, early onset | 13 | Rare Single Gene Mutation | 2 | 11 | ||
| BRD4 | bromodomain containing 4 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 14 | ||
| BST1 | bone marrow stromal cell antigen 1 | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 6 | ||
| BTAF1 | RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) | 10 | Rare Single Gene Mutation | 2 | 10 | ||
| BTRC | beta-transducin repeat containing E3 ubiquitin protein ligase | 10 | Rare Single Gene Mutation | 2 | 4 | ||
| C15orf62 | chromosome 15 open reading frame 62 | 15 | Rare Single Gene Mutation | 2 | 3 | ||
| AVPR1B | arginine vasopressin receptor 1B | 1 | Genetic Association, Functional | 2 | 10 | ||
| BICDL1 | BICD family like cargo adaptor 1 | 12 | Genetic Association | 2 | 2 | ||
| C4B | complement component 4B | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 7 | ||
| CA6 | carbonic anhydrase VI | 1 | Rare Single Gene Mutation | 2 | 7 | ||
| CACNA1B | calcium voltage-gated channel subunit alpha1 B | 9 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 16 | ||
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 38 | ||
| CACNA1F | calcium channel, voltage-dependent, alpha 1F | X | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| CACNA1G | calcium channel, voltage-dependent, T type, alpha 1G subunit | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 36 | ||
| CACNA1H | calcium channel, voltage-dependent, alpha 1H subunit | 16 | Rare Single Gene Mutation, Functional | 2 | 40 | ||
| CACNA1I | Calcium channel, voltage-dependent, T type, alpha 1I subunit | 22 | Rare Single Gene Mutation, Genetic Association | 2 | 15 | ||
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 10 | ||
| CACNB2 | Calcium channel, voltage-dependent, beta 2 subunit | 10 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 13 | ||
| CACNG2 | calcium voltage-gated channel auxiliary subunit gamma 2 | 22 | Rare Single Gene Mutation | 2 | 6 | ||
| CADM1 | cell adhesion molecule 1 | 11 | Rare Single Gene Mutation | 2 | 10 | ||
| CADM2 | Cell adhesion molecule 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| CADPS | calcium dependent secretion activator | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| CADPS2 | Ca2+-dependent activator protein for secretion 2 | 7 | Rare Single Gene Mutation, Functional | 2 | 14 | ||
| CAMK4 | calcium/calmodulin dependent protein kinase IV | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| CAPN12 | Calpain 12 | 19 | Rare Single Gene Mutation | 2 | 10 | ||
| CARD11 | caspase recruitment domain family member 11 | 7 | Rare Single Gene Mutation | 2 | 2 | ||
| CASKIN1 | CASK interacting protein 1 | 16 | Rare Single Gene Mutation, Functional | 2 | 9 | ||
| CC2D1A | Coiled-coil and C2 domain containing 1A | 19 | Rare Single Gene Mutation, Functional | 2 | 23 | ||
| CCDC88C | Coiled-coil domain containing 88C | 14 | Rare Single Gene Mutation | 2 | 12 | ||
| CCDC91 | coiled-coil domain containing 91 | 12 | Rare Single Gene Mutation | 2 | 6 | ||
| CCIN | calicin | 9 | Rare Single Gene Mutation | 2 | 2 | ||
| CCNG1 | cyclin G1 | 5 | Rare Single Gene Mutation | 2 | 2 | ||
| CCSER1 | coiled-coil serine rich protein 1 | 4 | Rare Single Gene Mutation | 2 | 4 | ||
| CCT4 | Chaperonin containing TCP1, subunit 4 (delta) | 2 | Rare Single Gene Mutation | 2 | 4 | ||
| CD276 | CD276molecule | 15 | Rare Single Gene Mutation | 2 | 4 | ||
| CD38 | CD38 molecule | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 10 | ||
| CDC42BPB | CDC42 binding protein kinase beta (DMPK-like) | 14 | Rare Single Gene Mutation, Syndromic | 2 | 15 | ||
| CDH10 | cadherin 10, type 2 (T2-cadherin) | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| CDH11 | cadherin 11 | 16 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 9 | ||
| CDH13 | cadherin 13 | 16 | Rare Single Gene Mutation | 2 | 7 | ||
| CDH22 | cadherin-like 22 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| CDH8 | cadherin 8, type 2 | 16 | Rare Single Gene Mutation | 2 | 13 | ||
| CDH9 | cadherin 9, type 2 (T1-cadherin) | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| CDK16 | cyclin dependent kinase 16 | X | Rare Single Gene Mutation | 2 | 3 | ||
| CECR2 | CECR2, histone acetyl-lysine reader | 22 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| CELF2 | CUGBP Elav-like family member 2 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 7 | |
| CELF6 | CUGBP, Elav-like family member 6 | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| CEP135 | centrosomal protein 135 | 4 | Rare Single Gene Mutation, Syndromic | 2 | 10 | ||
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 17 | |
| CEP41 | testis specific, 14 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 10 | ||
| CGNL1 | Cingulin-like 1 | 15 | Rare Single Gene Mutation | 2 | 9 | ||
| CHD1 | chromodomain helicase DNA binding protein 1 | 5 | Rare Single Gene Mutation, Syndromic | 2 | S | 17 | |
| CD99L2 | CD99 molecule like 2 | X | Genetic Association | 2 | 1 | ||
| CHMP1A | charged multivesicular body protein 1A | 16 | Rare Single Gene Mutation, Syndromic | 2 | 6 | ||
| CHRM3 | cholinergic receptor muscarinic 3 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| CHRNA7 | cholinergic receptor, nicotinic, alpha 7 | 15 | Rare Single Gene Mutation | 2 | 18 | ||
| CHRNB3 | cholinergic receptor nicotinic beta 3 subunit | 8 | Rare Single Gene Mutation | 2 | 4 | ||
| CIB2 | Calcium and integrin binding family member 2 | 15 | Rare Single Gene Mutation | 2 | 3 | ||
| CLASP1 | cytoplasmic linker associated protein 1 | 2 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| CLCN4 | chloride voltage-gated channel 4 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 19 | |
| CLN8 | Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) | 8 | Rare Single Gene Mutation, Syndromic | 2 | 9 | ||
| CLTCL1 | clathrin, heavy chain-like 1 | 22 | Rare Single Gene Mutation | 2 | 10 | ||
| CMIP | c-Maf inducing protein | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| CMPK2 | cytidine/uridine monophosphate kinase 2 | 2 | Rare Single Gene Mutation | 2 | 4 | ||
| CNGB3 | cyclic nucleotide gated channel beta 3 | 8 | Rare Single Gene Mutation | 2 | 8 | ||
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 18 | |
| CNOT1 | CCR4-NOT transcription complex subunit 1 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
| CNR1 | cannabinoid receptor 1 (brain) | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 10 | ||
| CNTN3 | contactin 3 | 3 | Rare Single Gene Mutation | 2 | 8 | ||
| CNTN4 | contactin 4 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 31 | ||
| CNTN5 | Contactin 5 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| CNTN6 | Contactin 6 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 19 | ||
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | 111 | |
| CNTNAP3 | contactin associated protein-like 3 | 9 | Rare Single Gene Mutation, Functional | 2 | 9 | ||
| CNTNAP4 | Contactin associated protein-like 4 | 16 | Rare Single Gene Mutation, Functional | 2 | 16 | ||
| CNTNAP5 | contactin associated protein-like 5 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 17 | ||
| COL28A1 | collagen type XXVIII alpha 1 chain | 7 | Rare Single Gene Mutation | 2 | 6 | ||
| CPEB4 | cytoplasmic polyadenylation element binding protein 4 | 5 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| CPT2 | carnitine palmitoyltransferase 2 | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| CPZ | carboxypeptidase Z | 4 | Rare Single Gene Mutation | 2 | 5 | ||
| CSMD1 | CUB and Sushi multiple domains 1 | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 27 | ||
| CSNK1E | casein kinase 1 epsilon | 22 | Rare Single Gene Mutation, Functional | 2 | 9 | ||
| CTNNA3 | catenin (cadherin-associated protein), alpha 3 | 10 | Rare Single Gene Mutation, Genetic Association | 2 | 22 | ||
| CTNND1 | catenin delta 1 | 11 | Rare Single Gene Mutation, Syndromic | 2 | 4 | ||
| CTNND2 | Catenin (cadherin-associated protein), delta 2 | 5 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 20 | ||
| CTTNBP2 | cortactin binding protein 2 | 7 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 16 | ||
| CUL7 | Cullin 7 | 6 | Rare Single Gene Mutation | 2 | 10 | ||
| CUX1 | cut like homeobox 1 | 7 | Rare Single Gene Mutation, Functional | 2 | 16 | ||
| CUX2 | cut like homeobox 2 | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | 18 | |
| CX3CR1 | Chemokine (C-X3-C motif) receptor 1 | 3 | Rare Single Gene Mutation, Functional | 2 | 4 | ||
| CYFIP1 | cytoplasmic FMR1 interacting protein 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 26 | ||
| CYLC2 | cylicin, basic protein of sperm head cytoskeleton 2 | 9 | Rare Single Gene Mutation | 2 | 4 | ||
| CYP11B1 | cytochrome P450, family 11, subfamily B, polypeptide 1 | 8 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| DAGLA | diacylglycerol lipase alpha | 11 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| DAPP1 | Dual adaptor of phosphotyrosine and 3-phosphoinositides | 4 | Rare Single Gene Mutation | 2 | 3 | ||
| DCC | DCCnetrin 1 receptor | 18 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| DDC | dopa decarboxylase | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| DDHD2 | DDHD domain containing 2 | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 8 | ||
| DDX53 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 | X | Rare Single Gene Mutation | 2 | 7 | ||
| DENR | density-regulated protein | 12 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| DIP2C | disco interacting protein 2 homolog C | 10 | Rare Single Gene Mutation, Functional | 2 | 10 | ||
| DIPK2A | divergent protein kinase domain 2A | 3 | Rare Single Gene Mutation | 2 | 3 | ||
| DISC1 | disrupted in schizophrenia 1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 40 | ||
| DIXDC1 | DIX domain containing 1 | 11 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| DLG1 | discs large MAGUK scaffold protein 1 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| DLG2 | discs large MAGUK scaffold protein 2 | 11 | Rare Single Gene Mutation, Functional | 2 | 17 | ||
| DLG3 | discs large MAGUK scaffold protein 3 | X | Rare Single Gene Mutation, Functional | 2 | 16 | ||
| DLGAP1 | DLG associated protein 1 | 18 | Rare Single Gene Mutation, Functional | 2 | 14 | ||
| DLGAP2 | discs, large (Drosophila) homolog-associated protein 2 | 8 | Rare Single Gene Mutation, Functional | 2 | 23 | ||
| DLGAP3 | DLG associated protein 3 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 15 | ||
| DLL1 | delta like canonical Notch ligand 1 | 6 | Rare Single Gene Mutation, Syndromic | 2 | S | 6 | |
| DLX3 | distal-less homeobox 3 | 17 | Rare Single Gene Mutation | 2 | 4 | ||
| DLX6 | distal-less homeobox 6 | 7 | Rare Single Gene Mutation | 2 | 10 | ||
| DMWD | DM1 locus, WD repeat containing | 19 | Rare Single Gene Mutation | 2 | 4 | ||
| DMXL2 | Dmx-like 2 | 15 | Rare Single Gene Mutation | 2 | 11 | ||
| DNAH10 | Dynein, axonemal, heavy chain 10 | 12 | Rare Single Gene Mutation | 2 | 13 | ||
| DNAH17 | dynein axonemal heavy chain 17 | 17 | Rare Single Gene Mutation | 2 | 12 | ||
| DNAH3 | dynein axonemal heavy chain 3 | 16 | Rare Single Gene Mutation | 2 | 10 | ||
| DNER | Delta/notch-like EGF repeat containing | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| DOCK1 | Dedicator of cytokinesis 1 | 10 | Rare Single Gene Mutation | 2 | 5 | ||
| DOCK4 | Dedicator of cytokinesis 4 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 13 | ||
| DOCK8 | dedicator of cytokinesis 8 | 9 | Rare Single Gene Mutation | 2 | 14 | ||
| DOT1L | DOT1 like histone lysine methyltransferase | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 6 | |
| DPP10 | Dipeptidyl-peptidase 10 | 2 | Rare Single Gene Mutation | 2 | 14 | ||
| DPP3 | dipeptidyl peptidase 3 | 11 | Rare Single Gene Mutation | 2 | 4 | ||
| DPP4 | Dipeptidyl-peptidase 4 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| DPP6 | dipeptidyl-peptidase 6 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 29 | ||
| DPYD | dihydropyrimidine dehydrogenase | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 19 | ||
| DPYSL3 | dihydropyrimidinase like 3 | 5 | Rare Single Gene Mutation | 2 | 3 | ||
| DRD1 | Dopamine receptor D1 | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 5 | ||
| DRD2 | Dopamine receptor D2 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| DRD3 | dopamine receptor D3 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| DST | Dystonin | 6 | Rare Single Gene Mutation | 2 | 13 | ||
| DUSP15 | dual specificity phosphatase 15 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| DVL3 | Dishevelled segment polarity protein 3 | 3 | Rare Single Gene Mutation, Functional | 2 | 7 | ||
| DYDC1 | DPY30 domain containing 1 | 10 | Rare Single Gene Mutation | 2 | 2 | ||
| DYDC2 | DPY30 domain containing 2 | 10 | 2 | 1 | |||
| DLX2 | distal-less homeobox 2 | 2 | Genetic Association | 2 | 11 | ||
| ECPAS | Ecm29 proteasome adaptor and scaffold | 9 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| EFR3A | EFR3 homolog A (S. cerevisiae) | 8 | Rare Single Gene Mutation | 2 | 10 | ||
| EGR3 | early growth response 3 | 8 | Rare Single Gene Mutation | 2 | 3 | ||
| EIF4E | eukaryotic translation initiation factor 4E | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 15 | ||
| ELAVL2 | ELAV like neuron-specific RNA binding protein 2 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 8 | ||
| ELOVL2 | ELOVL fatty acid elongase 2 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| ELP2 | elongator acetyltransferase complex subunit 2 | 18 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| ELP4 | Elongator acetyltransferase complex subunit 4 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| EMSY | EMSY, BRCA2 interacting transcriptional repressor | 11 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| EN2 | engrailed homolog 2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 27 | ||
| EP400 | E1A binding protein p400 | 12 | Rare Single Gene Mutation, Functional | 2 | 15 | ||
| EPC2 | Enhancer of polycomb homolog 2 (Drosophila) | 2 | Rare Single Gene Mutation | 2 | 6 | ||
| EPHA1 | EPH receptor A1 | 7 | Rare Single Gene Mutation | 2 | 9 | ||
| EPHB2 | EPH receptor B2 | 1 | Rare Single Gene Mutation, Functional | 2 | 11 | ||
| EPPK1 | epiplakin 1 | 8 | Rare Single Gene Mutation | 2 | 11 | ||
| ERBIN | erbb2 interacting protein | 5 | Rare Single Gene Mutation | 2 | 9 | ||
| ERMN | ermin | 2 | Rare Single Gene Mutation | 2 | 2 | ||
| ESR2 | estrogen receptor 2 (ER beta) | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 10 | ||
| ESRRB | estrogen-related receptor beta | 14 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| ETFB | Electron-transfer-flavoprotein, beta polypeptide | 19 | Rare Single Gene Mutation | 2 | 7 | ||
| EXOC3 | exocyst complex component 3 | 5 | Rare Single Gene Mutation | 2 | 3 | ||
| EXOC5 | exocyst complex component 5 | 14 | Rare Single Gene Mutation | 2 | 2 | ||
| EXOC6 | exocyst complex component 6 | 10 | Rare Single Gene Mutation | 2 | 3 | ||
| EXOC6B | exocyst complex component 6B | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| EXT1 | Exostosin 1 | 8 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| FABP5 | fatty acid binding protein 5 (psoriasis-associated) | 8 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| FAM47A | family with sequence similarity 47 member A | X | Rare Single Gene Mutation | 2 | 2 | ||
| FAM98C | family with sequence similarity 98 member C | 19 | Rare Single Gene Mutation | 2 | 4 | ||
| FAN1 | FANCD2/FANCI-associated nuclease 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 7 | ||
| FAT1 | FAT atypical cadherin 1 | 4 | Rare Single Gene Mutation, Functional | 2 | 15 | ||
| ERG | ERG, ETS transcription factor | 21 | Genetic Association | 2 | 1 | ||
| FBN1 | Fibrillin 1 | 15 | Rare Single Gene Mutation, Syndromic | 2 | 20 | ||
| FBXO11 | F-box protein 11 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 21 | |
| FBXO33 | F-box protein 33 | 14 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| FBXO40 | F-box protein 40 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| FCRL6 | Fc receptor like 6 | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| FEZF2 | FEZ family zinc finger 2 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 12 | ||
| FGA | Fibrinogen alpha chain | 4 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| FGFR1 | fibroblast growth factor receptor 1 | 8 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| FHIT | fragile histidine triad gene | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| FRG1 | FSHD region gene 1 | 4 | Rare Single Gene Mutation | 2 | 3 | ||
| FRK | fyn-related kinase | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| G3BP2 | G3BP stress granule assembly factor 2 | 4 | Rare Single Gene Mutation | 2 | 7 | ||
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 19 | |
| GABRA4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 11 | ||
| GABRG3 | gamma-aminobutyric acid type A receptor gamma3 subunit | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 13 | ||
| GALNT10 | polypeptide N-acetylgalactosaminyltransferase 10 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| GALNT13 | polypeptide N-acetylgalactosaminyltransferase 13 | 2 | Rare Single Gene Mutation | 2 | 6 | ||
| GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| GALNT8 | polypeptide N-acetylgalactosaminyltransferase 8 | 12 | Rare Single Gene Mutation | 2 | 4 | ||
| GAS2 | Growth arrest-specific 2 | 11 | Genetic Association | 2 | 1 | ||
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | 3 | Rare Single Gene Mutation | 2 | 5 | ||
| GDA | guanine deaminase | 9 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| GGNBP2 | gametogenetin binding protein 2 | 17 | Rare Single Gene Mutation | 2 | 3 | ||
| GLIS1 | GLIS family zinc finger 1 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| GLO1 | glyoxalase I | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 10 | ||
| GLRA2 | glycine receptor, alpha 2 | X | Rare Single Gene Mutation, Functional | 2 | 18 | ||
| GNAS | GNAS complex locus | 20 | Rare Single Gene Mutation | 2 | 11 | ||
| GNB1L | guanine nucleotide binding protein (G protein), beta polypeptide 1-like | 22 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| GPC4 | glypican 4 | X | Rare Single Gene Mutation | 2 | 3 | ||
| GPC6 | glypican 6 | 13 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| GPD2 | glycerol-3-phosphate dehydrogenase 2 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| GPHN | Gephyrin | 14 | Rare Single Gene Mutation | 2 | 11 | ||
| GPR37 | G protein-coupled receptor 37 | 7 | Rare Single Gene Mutation | 2 | 3 | ||
| GPR85 | G protein-coupled receptor 85 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| GPX1 | glutathione peroxidase 1 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | 5 | Rare Single Gene Mutation, Syndromic | 2 | 16 | ||
| GRID1 | Glutamate receptor, ionotropic, delta 1 | 10 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| GRID2 | glutamate receptor, ionotropic, delta 2 | 4 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 12 | ||
| GRID2IP | Grid2 interacting protein | 7 | Rare Single Gene Mutation | 2 | 5 | ||
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 25 | ||
| GRIK3 | glutamate ionotropic receptor kainate type subunit 3 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| GRIK4 | Glutamate receptor, ionotropic, kainate 4 | 11 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 19 | Rare Single Gene Mutation | 2 | 12 | ||
| GRIP1 | glutamate receptor interacting protein 1 | 12 | Rare Single Gene Mutation | 2 | 17 | ||
| GRK4 | G protein-coupled receptor kinase 4 | 4 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| GRM5 | glutamate metabotropic receptor 5 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 13 | ||
| GRM7 | Glutamate receptor, metabotropic 7 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 20 | ||
| GSE1 | Gse1coiled-coil protein | 16 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| GTF2I | general transcription factor IIi | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 13 | ||
| GUCY1A2 | guanylate cyclase 1 soluble subunit alpha 2 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| H2BC11 | H2B clustered histone 11 | 6 | Rare Single Gene Mutation | 2 | 3 | ||
| HDAC4 | histone deacetylase 4 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 19 | |
| HECW2 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 2 | Rare Single Gene Mutation, Syndromic | 2 | 25 | ||
| HERC1 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 15 | |
| HIVEP3 | human immunodeficiency virus type I enhancer binding protein 3 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 14 | ||
| HLA-A | major histocompatibility complex, class I, A | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| HLA-B | Major histocompatibility complex, class I, B | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| HLA-DPB1 | major histocompatibility complex, class II, DP beta 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 2 | ||
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| HLA-G | major histocompatibility complex, class I, G | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| HNRNPD | heterogeneous nuclear ribonucleoprotein D | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | 5 | |
| HNRNPF | heterogeneous nuclear ribonucleoprotein F | 10 | Rare Single Gene Mutation | 2 | 5 | ||
| GSTM1 | glutathione S-transferase M1 | 1 | Genetic Association | 2 | 3 | ||
| HMGN1 | high mobility group nucleosome binding domain 1 | 21 | Genetic Association | 2 | 1 | ||
| HNRNPK | heterogeneous nuclear ribonucleoprotein K | 9 | Rare Single Gene Mutation, Syndromic | 2 | S | 15 | |
| HNRNPR | heterogeneous nuclear ribonucleoprotein R | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 10 | |
| HNRNPUL2 | heterogeneous nuclear ribonucleoprotein U like 2 | 11 | Rare Single Gene Mutation, Syndromic | 2 | S | 4 | |
| HOMER1 | Homer homolog 1 (Drosophila) | 5 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| HS3ST5 | heparan sulfate (glucosamine) 3-O-sulfotransferase 5 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| HSD11B1 | hydroxysteroid (11-beta) dehydrogenase 1 | 1 | Rare Single Gene Mutation, Syndromic | 2 | 9 | ||
| HTR1B | 5-hydroxytryptamine (serotonin) receptor 1B | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| HTR3A | 5-hydroxytryptamine (serotonin) receptor 3A | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 10 | ||
| HYDIN | HYDIN, axonemal central pair apparatus protein | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| ICA1 | islet cell autoantigen 1 | 7 | Rare Single Gene Mutation | 2 | 10 | ||
| IL1R2 | interleukin 1 receptor, type II | 2 | Rare Single Gene Mutation | 2 | 9 | ||
| IL1RAPL1 | interleukin 1 receptor accessory protein-like 1 | X | Rare Single Gene Mutation | 2 | 32 | ||
| IL1RAPL2 | interleukin 1 receptor accessory protein-like 2 | X | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| ILF2 | Interleukin enhancer binding factor 2 | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| IMMP2L | IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 17 | ||
| INPP1 | inositol polyphosphate-1-phosphatase | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| INTS6 | Integrator complex subunit 6 | 13 | Rare Single Gene Mutation | 2 | 7 | ||
| IQGAP3 | IQ motif containing GTPase activating protein 3 | 1 | Rare Single Gene Mutation | 2 | 8 | ||
| ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 23 | ||
| ITPR1 | inositol 1,4,5-trisphosphate receptor type 1 | 3 | Rare Single Gene Mutation | 2 | 24 | ||
| ITSN1 | intersectin 1 | 21 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 12 | ||
| JARID2 | jumonji and AT-rich interaction domain containing 2 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 20 | ||
| JMJD1C | jumonji domain containing 1C | 10 | Rare Single Gene Mutation | 2 | 12 | ||
| KANK1 | KN motif and ankyrin repeat domains 1 | 9 | Rare Single Gene Mutation | 2 | 16 | ||
| KAT2B | K(lysine) acetyltransferase 2B | 3 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| KAT6A | K(lysine) acetyltransferase 6A | 8 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 39 | |
| KATNAL1 | katanin catalytic subunit A1 like 1 | 13 | Rare Single Gene Mutation, Functional | 2 | 4 | ||
| KCNC1 | potassium voltage-gated channel subfamily C member 1 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 13 | ||
| KCND2 | potassium voltage-gated channel subfamily D member 2 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| KCND3 | potassium voltage-gated channel subfamily D member 3 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 15 | ||
| KCNJ10 | potassium voltage-gated channel subfamily J member 10 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 16 | ||
| KCNJ15 | potassium voltage-gated channel subfamily J member 15 | 21 | Rare Single Gene Mutation | 2 | 3 | ||
| KCNK7 | potassium two pore domain channel subfamily K member 7 | 11 | Rare Single Gene Mutation | 2 | 3 | ||
| KCNMA1 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | 10 | Rare Single Gene Mutation, Syndromic | 2 | 36 | ||
| KCNS3 | potassium voltage-gated channel modifier subfamily S member 3 | 2 | Rare Single Gene Mutation | 2 | 7 | ||
| KCTD13 | Potassium channel tetramerisation domain containing 13 | 16 | Rare Single Gene Mutation, Functional | 2 | 9 | ||
| KDM1B | lysine demethylase 1B | 6 | Rare Single Gene Mutation | 2 | 3 | ||
| KDM4B | lysine demethylase 4B | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 7 | ||
| KDM4C | lysine demethylase 4C | 9 | Rare Single Gene Mutation | 2 | 4 | ||
| KDM5A | lysine demethylase 5A | 12 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| KDM6A | lysine demethylase 6A | X | Rare Single Gene Mutation, Syndromic | 2 | 17 | ||
| KHDRBS2 | KH domain containing, RNA binding, signal transduction associated 2 | 6 | Rare Single Gene Mutation | 2 | 4 | ||
| KIAA1586 | KIAA1586 | 6 | Rare Single Gene Mutation | 2 | 7 | ||
| KIF13B | Kinesin family member 13B | 8 | Rare Single Gene Mutation | 2 | 7 | ||
| KIF14 | kinesin family member 14 | 1 | Rare Single Gene Mutation, Syndromic | 2 | 8 | ||
| KIF1A | kinesin family member 1A | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 22 | |
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 20 | |
| KIRREL3 | Kin of IRRE like 3 (Drosophila) | 11 | Rare Single Gene Mutation | 2 | 20 | ||
| KLF16 | Kruppel like factor 16 | 19 | Rare Single Gene Mutation | 2 | 1 | ||
| KRR1 | KRR1, small subunit (SSU) processome component, homolog (yeast) | 12 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| KRT26 | keratin 26 | 17 | Rare Single Gene Mutation | 2 | 5 | ||
| LAMA1 | Laminin, alpha 1 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 18 | ||
| LAMB1 | laminin, beta 1 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| LEMD3 | LEM domain containing 3 | 12 | Rare Single Gene Mutation | 2 | 5 | ||
| LEO1 | LEO1 homolog, Paf1/RNA polymerase II complex component | 15 | Rare Single Gene Mutation | 2 | 6 | ||
| LEP | Leptin | 7 | Rare Single Gene Mutation | 2 | 1 | ||
| LHX2 | LIM homeobox 2 | 9 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| LILRB2 | leukocyte immunoglobulin like receptor B2 | 19 | Rare Single Gene Mutation | 2 | 5 | ||
| LIN7B | lin-7 homolog B, crumbs cell polarity complex component | 19 | Rare Single Gene Mutation | 2 | 4 | ||
| LMX1B | LIM homeobox transcription factor 1 beta | 9 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| LRBA | LPS-responsive vesicle trafficking, beach and anchor containing | 4 | Rare Single Gene Mutation | 2 | 13 | ||
| LRFN2 | leucine rich repeat and fibronectin type III domain containing 2 | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 8 | ||
| LRFN5 | leucine rich repeat and fibronectin type III domain containing 5 | 14 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 8 | ||
| LRP1 | LDL receptor related protein 1 | 12 | Rare Single Gene Mutation, Genetic Association | 2 | 14 | ||
| LRP2 | LDL receptor related protein 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 23 | ||
| LRRC1 | leucine rich repeat containing 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| LRRC4 | leucine rich repeat containing 4 | 7 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| LZTS2 | leucine zipper, putative tumor suppressor 2 | 10 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| MACROD2 | MACRO domain containing 2 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 25 | ||
| MAOA | monoamine oxidase A | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 23 | ||
| MAOB | monoamine oxidase B | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 7 | ||
| MAP1B | microtubule associated protein 1B | 5 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 18 | ||
| MAP4K4 | mitogen-activated protein kinase kinase kinase kinase 4 | 2 | Rare Single Gene Mutation, Syndromic | 2 | 3 | ||
| MAPK3 | mitogen-activated protein kinase 3 | 16 | Rare Single Gene Mutation, Functional | 2 | 7 | ||
| MAPK8IP3 | mitogen-activated protein kinase 8 interacting protein 3 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 13 | |
| MAPT-AS1 | MAPT antisense RNA 1 | 17 | Genetic Association | 2 | 1 | ||
| MARK1 | microtubule affinity regulating kinase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| MARK2 | microtubule affinity regulating kinase 2 | 11 | Rare Single Gene Mutation, Functional | 2 | 12 | ||
| MBD1 | methyl-CpG binding domain protein 1 | 18 | Rare Single Gene Mutation | 2 | 9 | ||
| MBD3 | methyl-CpG binding domain protein 3 | 19 | Rare Single Gene Mutation | 2 | 4 | ||
| MBD4 | methyl-CpG binding domain protein 4 | 3 | Rare Single Gene Mutation | 2 | 7 | ||
| MBD6 | Methyl-CpG binding domain protein 6 | 12 | Rare Single Gene Mutation | 2 | 4 | ||
| MCM4 | minichromosome maintenance complex component 4 | 8 | Rare Single Gene Mutation | 2 | 5 | ||
| MCM6 | minichromosome maintenance complex component 6 | 2 | Rare Single Gene Mutation, Syndromic | 2 | 5 | ||
| MCPH1 | microcephalin 1 | 8 | Rare Single Gene Mutation | 2 | 22 | ||
| MDGA2 | MAM domain containing glycosylphosphatidylinositol anchor 2 | 14 | Rare Single Gene Mutation, Genetic Association | 2 | 10 | ||
| MED12L | mediator complex subunit 12L | 3 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| MED23 | mediator complex subunit 23 | 6 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| MEGF10 | multiple EGF like domains 10 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| MEGF11 | multiple EGF like domains 11 | 15 | Rare Single Gene Mutation, Functional | 2 | 9 | ||
| MEMO1 | mediator of cell motility 1 | 2 | Rare Single Gene Mutation, Functional | 2 | 3 | ||
| MET | met proto-oncogene (hepatocyte growth factor receptor) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 44 | ||
| METTL26 | methyltransferase like 26 | 16 | Rare Single Gene Mutation | 2 | 2 | ||
| MFRP | Membrane frizzled-related protein | 11 | Rare Single Gene Mutation | 2 | 10 | ||
| MIB1 | Mindbomb E3 ubiquitin protein ligase 1 | 18 | Rare Single Gene Mutation | 2 | 11 | ||
| MIR137 | microRNA 137 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 10 | ||
| MLANA | melan-A | 9 | Rare Single Gene Mutation | 2 | 4 | ||
| MNT | MAX network transcriptional repressor | 17 | Rare Single Gene Mutation, Genetic Association | 2 | 2 | ||
| MRTFB | myocardin related transcription factor B | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 12 | ||
| MSANTD2 | Myb/SANT DNA binding domain containing 2 | 11 | Rare Single Gene Mutation | 2 | 2 | ||
| MSR1 | macrophage scavenger receptor 1 | 8 | Rare Single Gene Mutation | 2 | 5 | ||
| MTF1 | metal-regulatory transcription factor 1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 6 | ||
| MTHFR | methylenetetrahydrofolate reductase (NAD(P)H) | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 28 | ||
| MUC12 | mucin 12, cell surface associated | 7 | Rare Single Gene Mutation | 2 | 9 | ||
| MUC4 | mucin 4, cell surface associated | 3 | Rare Single Gene Mutation | 2 | 12 | ||
| MYH10 | myosin heavy chain 10 | 17 | Rare Single Gene Mutation | 2 | 10 | ||
| MYH4 | Myosin, heavy chain 4, skeletal muscle | 17 | Rare Single Gene Mutation | 2 | 8 | ||
| MYH9 | myosin heavy chain 9 | 22 | Rare Single Gene Mutation | 2 | 9 | ||
| MYO16 | myosin XVI | 13 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| MYO1E | myosin IE | 15 | Rare Single Gene Mutation | 2 | 8 | ||
| MYO5A | myosin VA | 15 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| MYO5C | myosin VC | 15 | Rare Single Gene Mutation | 2 | 7 | ||
| MYO9B | Myosin IXB | 19 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| MSNP1AS | Moesinpseudogene 1, antisense | 5 | Genetic Association, Functional | 2 | 13 | ||
| NAALADL2 | N-acetylated alpha-linked acidic dipeptidase-like 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| NAV2 | neuron navigator 2 | 11 | Rare Single Gene Mutation, Syndromic | 2 | 14 | ||
| NAV3 | neuron navigator 3 | 12 | Rare Single Gene Mutation | 2 | 7 | ||
| NCKAP5 | NCK-associated protein 5 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| NCOR1 | nuclear receptor corepressor 1 | 17 | Rare Single Gene Mutation, Functional | 2 | 13 | ||
| NDUFA5 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| NEGR1 | neuronal growth regulator 1 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 7 | ||
| NEO1 | Neogenin 1 | 15 | Rare Single Gene Mutation | 2 | 5 | ||
| NFE2L3 | nuclear factor, erythroid 2 like 3 | 7 | Rare Single Gene Mutation | 2 | 7 | ||
| NFIA | nuclear factor I/A | 1 | Rare Single Gene Mutation, Syndromic | 2 | 20 | ||
| NFIB | nuclear factor I B | 9 | Rare Single Gene Mutation, Syndromic | 2 | S | 9 | |
| NINL | Ninein-like | 20 | Rare Single Gene Mutation | 2 | 11 | ||
| NIPA1 | non imprinted in Prader-Willi/Angelman syndrome 1 | 15 | Rare Single Gene Mutation | 2 | 6 | ||
| NIPA2 | non imprinted in Prader-Willi/Angelman syndrome 2 | 15 | Rare Single Gene Mutation | 2 | 3 | ||
| NLGN1 | neuroligin 1 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 25 | ||
| NLGN4Y | neuroligin 4, Y-linked | Y | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 6 | ||
| NOTCH1 | notch receptor 1 | 9 | Rare Single Gene Mutation, Functional | 2 | 13 | ||
| NPAS2 | neuronal PAS domain protein 2 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| NR1D1 | nuclear receptor subfamily 1 group D member 1 | 17 | Rare Single Gene Mutation | 2 | 4 | ||
| NR2F1 | nuclear receptor subfamily 2 group F member 1 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | 33 | |
| NRCAM | neuronal cell adhesion molecule | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| NRP2 | neuropilin 2 | 2 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 11 | ||
| NSD2 | nuclear receptor binding SET domain protein 2 | 4 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 18 | |
| NSMCE3 | NSE3 homolog, SMC5-SMC6 complex component | 15 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| NTNG1 | netrin G1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 8 | |
| NTRK1 | neurotrophic tyrosine kinase, receptor, type 1 | 1 | Rare Single Gene Mutation, Syndromic | 2 | 11 | ||
| NTRK3 | neurotrophic tyrosine kinase, receptor, type 3 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 16 | ||
| NUAK1 | NUAK family, SNF1-like kinase, 1 | 12 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| NUDCD2 | NudC domain containing 2 | 5 | Rare Single Gene Mutation | 2 | 4 | ||
| NUP133 | nucleoporin 133kDa | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| NXPH1 | neurexophilin 1 | 7 | Rare Single Gene Mutation | 2 | 6 | ||
| OFD1 | OFD1, centriole and centriolar satellite protein | X | Rare Single Gene Mutation, Syndromic | 2 | 8 | ||
| OPHN1 | oligophrenin 1 | X | Rare Single Gene Mutation, Syndromic | 2 | 23 | ||
| OR1C1 | olfactory receptor, family 1, subfamily C, member 1 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| OR2M4 | Olfactory receptor, family 2, subfamily M, member 4 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 2 | ||
| OR2T10 | olfactory receptor family 2 subfamily T member 10 | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| OR52M1 | Olfactory receptor, family 52, subfamily M, member 1 | 11 | Rare Single Gene Mutation | 2 | 4 | ||
| OTUD7A | OTU deubiquitinase 7A | 15 | Rare Single Gene Mutation, Functional | 2 | 11 | ||
| OTX1 | orthodenticle homeobox 1 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| OXT | oxytocin/neurophysin I prepropeptide | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| OXTR | oxytocin receptor | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 54 | ||
| P2RX5 | Purinergic receptor P2X, ligand gated ion channel, 5 | 17 | Rare Single Gene Mutation | 2 | 6 | ||
| P4HA2 | Prolyl 4-hydroxylase, alpha polypeptide II | 5 | Rare Single Gene Mutation | 2 | 5 | ||
| PAFAH1B2 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | 11 | Rare Single Gene Mutation | 2 | 4 | ||
| PAK2 | p21 (RAC1) activated kinase 2 | 3 | Rare Single Gene Mutation, Syndromic | 2 | 8 | ||
| PAPOLG | poly(A) polymerase gamma | 2 | Rare Single Gene Mutation | 2 | 7 | ||
| PARD3B | Par-3 partitioning defective 3 homolog B (C. elegans) | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| PATJ | PATJ, crumbs cell polarity complex component | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| PBX1 | PBX homeobox 1 | 1 | Rare Single Gene Mutation | 2 | 10 | ||
| PCDH10 | protocadherin 10 | 4 | Rare Single Gene Mutation, Functional | 2 | 12 | ||
| PCDH11X | protocadherin 11 X-linked | X | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PCDH15 | protocadherin related 15 | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 15 | ||
| PCDH9 | protocadherin 9 | 13 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 14 | ||
| PCDHA1 | Protocadherin alpha 1 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 5 | ||
| PCDHA10 | Protocadherin alpha 10 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| PCDHA11 | Protocadherin alpha 11 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| PCDHA12 | Protocadherin alpha 12 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PCDHA13 | Protocadherin alpha 13 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PCDHA2 | Protocadherin alpha 2 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| PCDHA3 | Protocadherin alpha 3 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PCDHA4 | Protocadherin alpha 4 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| PCDHA5 | Protocadherin alpha 5 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| PCDHA6 | Protocadherin alpha 6 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PCDHA7 | Protocadherin alpha 7 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| PCDHA8 | Protocadherin alpha 8 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| PCDHA9 | Protocadherin alpha 9 | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 5 | ||
| PCDHAC1 | Protocadherin alpha subfamily C, 1 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| PCDHAC2 | Protocadherin alpha subfamily C, 2 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PCLO | piccolo presynaptic cytomatrix protein | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 14 | ||
| PCM1 | pericentriolar material 1 | 8 | Rare Single Gene Mutation | 2 | 6 | ||
| PDCD1 | programmed cell death 1 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| PDE1C | phosphodiesterase 1C | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| PDK2 | pyruvate dehydrogenase kinase 2 | 17 | Rare Single Gene Mutation | 2 | 7 | ||
| PER1 | period homolog 1 (Drosophila) | 17 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| PER2 | period circadian clock 2 | 2 | Rare Single Gene Mutation | 2 | 9 | ||
| PEX7 | peroxisomal biogenesis factor 7 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PHB1 | prohibitin 1 | 17 | Genetic Association | 2 | 1 | ||
| PHF7 | PHD finger protein 7 | 3 | Rare Single Gene Mutation | 2 | 4 | ||
| PHRF1 | PHD and ring finger domains 1 | 11 | Rare Single Gene Mutation | 2 | 5 | ||
| PIK3CG | phosphoinositide-3-kinase, catalytic, gamma polypeptide | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| PITX1 | paired-like homeodomain 1 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| PLAUR | Plasminogen activator, urokinase receptor | 19 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| PLCB1 | phospholipase C, beta 1 (phosphoinositide-specific) | 20 | Rare Single Gene Mutation | 2 | 9 | ||
| PLCD4 | phospholipase C delta 4 | 2 | Rare Single Gene Mutation | 2 | 5 | ||
| PLN | phospholamban | 6 | Rare Single Gene Mutation | 2 | 5 | ||
| PLXNA3 | plexin A3 | X | Rare Single Gene Mutation, Syndromic | 2 | 12 | ||
| PLXNA4 | Plexin A4 | 7 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| PLXNB1 | plexin B1 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| PNPLA7 | patatin like phospholipase domain containing 7 | 9 | Rare Single Gene Mutation | 2 | 7 | ||
| POLA2 | DNA polymerase alpha 2, accessory subunit | 11 | Rare Single Gene Mutation | 2 | 7 | ||
| POMT1 | protein O-mannosyltransferase 1 | 9 | Rare Single Gene Mutation | 2 | 6 | ||
| PON1 | paraoxonase 1 | 7 | Genetic Association | 2 | 5 | ||
| POT1 | Protection of telomeres 1 homolog (S. pombe) | 7 | Rare Single Gene Mutation | 2 | 3 | ||
| PPFIA1 | PTPRF interacting protein alpha 1 | 11 | Rare Single Gene Mutation | 2 | 7 | ||
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 2 | S | 13 | |
| PPP1R1B | Protein phosphatase 1, regulatory (inhibitor) subunit 1B | 17 | Rare Single Gene Mutation, Genetic Association | 2 | 2 | ||
| PPP2R1B | protein phosphatase 2 regulatory subunit A, beta | 11 | Rare Single Gene Mutation | 2 | 9 | ||
| PREX1 | Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| PRICKLE1 | Prickle homolog 1 (Drosophila) | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 7 | ||
| PRICKLE2 | prickle planar cell polarity protein 2 | 3 | Rare Single Gene Mutation, Functional | 2 | 10 | ||
| PRKAR1B | protein kinase cAMP-dependent type I regulatory subunit beta | 7 | Rare Single Gene Mutation, Syndromic | 2 | 9 | ||
| PRKCA | protein kinase C alpha | 17 | Rare Single Gene Mutation, Functional | 2 | 7 | ||
| PRKCB | protein kinase C beta | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| PRKD2 | protein kinase D2 | 19 | Rare Single Gene Mutation | 2 | 5 | ||
| PRKDC | protein kinase, DNA-activated, catalytic polypeptide | 8 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 10 | ||
| PRKN | parkin RBR E3 ubiquitin protein ligase | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 20 | ||
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 10 | |
| PRPF39 | pre-mRNA processing factor 39 | 14 | Rare Single Gene Mutation | 2 | 3 | ||
| PRUNE2 | prune homolog 2 | 9 | Rare Single Gene Mutation, Syndromic | 2 | 12 | ||
| PSD3 | pleckstrin and Sec7 domain containing 3 | 8 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| PTBP2 | polypyrimidine tract binding protein 2 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 9 | ||
| PTCHD1-AS | PTCHD1 and PHEX antisense RNA | X | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| PTGS2 | prostaglandin-endoperoxide synthase 2 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 8 | ||
| PTPRB | protein tyrosine phosphatase, receptor type B | 12 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| PTPRC | protein tyrosine phosphatase, receptor type, C | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| PTPRD | protein tyrosine phosphatase receptor type D | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 15 | ||
| PTPRT | protein tyrosine phosphatase, receptor type, T | 20 | Rare Single Gene Mutation, Functional | 2 | 13 | ||
| PXDN | peroxidasin | 2 | Rare Single Gene Mutation, Syndromic | 2 | 11 | ||
| PYHIN1 | Pyrin and HIN domain family, member 1 | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| QRICH1 | glutamine rich 1 | 3 | Rare Single Gene Mutation, Syndromic | 2 | 16 | ||
| RAB11FIP5 | RAB11 family interacting protein 5 | 2 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| RAB2A | RAB2A, member RAS oncogene family | 8 | Rare Single Gene Mutation | 2 | 8 | ||
| RAB39B | RAB39B, member RAS oncogene family | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | 19 | ||
| RAB43 | RAB43, member RAS oncogene family | 3 | Rare Single Gene Mutation | 2 | 2 | ||
| RAD21L1 | RAD21 cohesin complex component like 1 | 20 | Rare Single Gene Mutation | 2 | 4 | ||
| RANBP17 | RAN binding protein 17 | 5 | Rare Single Gene Mutation | 2 | 13 | ||
| RAPGEF4 | Rap guanine nucleotide exchange factor (GEF) 4 | 2 | Rare Single Gene Mutation | 2 | 18 | ||
| RASSF5 | Ras association domain family member 5 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| RBBP5 | RB binding protein 5, histone lysine methyltransferase complex subunit | 1 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| RBFOX1 | RNA binding protein, fox-1 homolog (C. elegans) 1 | 16 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 46 | ||
| RBM27 | RNA binding motif protein 27 | 5 | Rare Single Gene Mutation | 2 | 6 | ||
| REEP3 | receptor accessory protein 3 | 10 | Rare Single Gene Mutation | 2 | 3 | ||
| RGS7 | regulator of G-protein signaling 7 | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| RIMS3 | regulating synaptic membrane exocytosis 3 | 1 | Rare Single Gene Mutation | 2 | 4 | ||
| RNF135 | Ring finger protein 135 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 5 | |
| RNF25 | ring finger protein 25 | 2 | Rare Single Gene Mutation | 2 | 4 | ||
| RNF38 | ring finger protein 38 | 9 | Rare Single Gene Mutation | 2 | 2 | ||
| ROBO2 | roundabout guidance receptor 2 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 12 | ||
| RPL10 | ribosomal protein L10 | X | Rare Single Gene Mutation, Syndromic | 2 | 14 | ||
| RPS6KA2 | ribosomal protein S6 kinase, 90kDa, polypeptide 2 | 6 | Rare Single Gene Mutation | 2 | 5 | ||
| RPS6KA3 | Ribosomal protein S6 kinase, 90kDa, polypeptide 3 | X | Rare Single Gene Mutation, Syndromic | 2 | S | 22 | |
| SACS | sacsin molecular chaperone | 13 | Rare Single Gene Mutation | 2 | 12 | ||
| SAE1 | SUMO1 activating enzyme subunit 1 | 19 | Rare Single Gene Mutation | 2 | 4 | ||
| RP11-1407O15.2 | 17 | Rare Single Gene Mutation | 2 | 1 | |||
| SAMD11 | sterile alpha motif domain containing 11 | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| SASH1 | SAM and SH3 domain containing 1 | 6 | Rare Single Gene Mutation | 2 | 4 | ||
| SBF1 | SET binding factor 1 | 22 | Rare Single Gene Mutation | 2 | 13 | ||
| SCAF1 | SR-related CTD associated factor 1 | 19 | Rare Single Gene Mutation | 2 | 4 | ||
| SCAF4 | SR-related CTD associated factor 4 | 21 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| SCFD2 | sec1 family domain containing 2 | 4 | Rare Single Gene Mutation | 2 | 5 | ||
| SCN4A | Sodium channel, voltage gated, type IV alpha subunit | 17 | Rare Single Gene Mutation | 2 | 9 | ||
| SCN9A | sodium voltage-gated channel alpha subunit 9 | 2 | Rare Single Gene Mutation | 2 | 16 | ||
| SCP2 | sterol carrier protein 2 | 1 | Rare Single Gene Mutation | 2 | 3 | ||
| SDC2 | syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) | 8 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| SEMA5A | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A | 5 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 23 | ||
| SERPINE1 | serpin family E member 1 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| SET | SETnuclear proto-oncogene | 9 | Rare Single Gene Mutation, Syndromic | 2 | 9 | ||
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 29 | |
| RHOXF1 | Rhox homeobox family, member 1 | X | Genetic Association | 2 | 3 | ||
| RIT2 | Ras-like without CAAX 2 | 18 | Genetic Association | 2 | 3 | ||
| RPS10P2-AS1 | ribosomal protein S10 pseudogene 2 anti-sense 1 | 20 | Genetic Association, Functional | 2 | 4 | ||
| SETDB1 | SET domain, bifurcated 1 | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| SETDB2 | SET domain, bifurcated 2 | 13 | Rare Single Gene Mutation, Syndromic | 2 | 4 | ||
| SEZ6L2 | SEZ6L2 seizure related 6 homolog (mouse)-like 2 | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 8 | ||
| SF3B1 | splicing factor 3b subunit 1 | 2 | Rare Single Gene Mutation, Syndromic | 2 | 7 | ||
| SF3B3 | splicing factor 3b subunit 3 | 16 | Rare Single Gene Mutation, Syndromic | 2 | 6 | ||
| SGSM3 | Small G protein signaling modulator 3 | 22 | Rare Single Gene Mutation, Syndromic | 2 | 11 | ||
| SH3RF3 | SH3 domain containing ring finger 3 | 2 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| SHANK1 | SH3 and multiple ankyrin repeat domains 1 | 19 | Rare Single Gene Mutation, Genetic Association | 2 | 22 | ||
| SHOX | short stature homeobox | X,Y | Rare Single Gene Mutation | 2 | 3 | ||
| SIN3B | SIN3 transcription regulator family member B | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 9 | |
| SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | 20 | Rare Single Gene Mutation, Functional | 2 | 10 | ||
| SLC1A1 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 | 9 | Rare Single Gene Mutation, Genetic Association | 2 | 16 | ||
| SLC22A9 | solute carrier family 22 member 9 | 11 | Rare Single Gene Mutation | 2 | 8 | ||
| SLC24A2 | solute carrier family 24 member 2 | 9 | Rare Single Gene Mutation | 2 | 5 | ||
| SLC25A12 | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 26 | ||
| SLC25A39 | solute carrier family 25 member 39 | 17 | Rare Single Gene Mutation | 2 | 4 | ||
| SLC27A4 | Solute carrier family 27 (fatty acid transporter), member 4 | 9 | Rare Single Gene Mutation, Syndromic | 2 | 4 | ||
| SLC29A4 | solute carrier family 29 member 4 | 7 | Rare Single Gene Mutation | 2 | 2 | ||
| SLC35B1 | solute carrier family 35 member B1 | 17 | Rare Single Gene Mutation, Genetic Association | 2 | 2 | ||
| SLC35G1 | solute carrier family 35 member G1 | 10 | Rare Single Gene Mutation | 2 | 4 | ||
| SLC38A10 | solute carrier family 38, member 10 | 17 | Rare Single Gene Mutation | 2 | 4 | ||
| SLC4A10 | solute carrier family 4, sodium bicarbonate transporter-like, member 10 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 11 | ||
| SLC6A3 | Solute carrier family 6 (neurotransmitter transporter), member 3 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | 19 | ||
| SLC6A4 | solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 | 17 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 32 | ||
| SLC6A8 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | 28 | ||
| SLC7A3 | Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 | X | Rare Single Gene Mutation | 2 | 3 | ||
| SLC7A5 | solute carrier family 7 member 5 | 16 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| SLC7A7 | solute carrier family 7 member 7 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 9 | ||
| SLC9A9 | solute carrier family 9 (sodium/hydrogen exchanger), member 9 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 19 | ||
| SLCO1B3 | Solute carrier organic anion transporter family, member 1B3 | 12 | Rare Single Gene Mutation | 2 | 8 | ||
| SLITRK5 | SLIT and NTRK like family member 5 | 13 | Rare Single Gene Mutation, Functional | 2 | 11 | ||
| SMAD4 | SMAD family member 4 | 18 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 16 | ||
| SMAP2 | small ArfGAP2 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| SLC22A15 | Solute carrier family 22, member 15 | 1 | Genetic Association | 2 | 1 | ||
| SLC25A27 | solute carrier family 25 member 27 | 6 | Genetic Association | 2 | 1 | ||
| SMC3 | structural maintenance of chromosomes 3 | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | 16 | |
| SMG6 | SMG6, nonsense mediated mRNA decay factor | 17 | Rare Single Gene Mutation | 2 | 6 | ||
| SMURF1 | SMAD specific E3 ubiquitin protein ligase 1 | 7 | Rare Single Gene Mutation | 2 | 4 | ||
| SNAP25 | Synaptosomal-associated protein, 25kDa | 20 | Rare Single Gene Mutation, Genetic Association | 2 | 15 | ||
| SND1 | staphylococcal nuclease and tudor domain containing 1 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 11 | ||
| SNTG2 | syntrophin gamma 2 | 2 | Rare Single Gene Mutation | 2 | 7 | ||
| SNX5 | sorting nexin 5 | 20 | Rare Single Gene Mutation | 2 | 6 | ||
| SOD1 | superoxide dismutase 1 | 21 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 4 | ||
| SORCS3 | sortilin related VPS10 domain containing receptor 3 | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 7 | ||
| SPARCL1 | SPARC like 1 | 4 | Rare Single Gene Mutation, Functional | 2 | 5 | ||
| SPEN | spenfamily transcriptional repressor | 1 | Rare Single Gene Mutation, Syndromic | 2 | 22 | ||
| SPP2 | secreted phosphoprotein 2 | 2 | Rare Single Gene Mutation | 2 | 4 | ||
| SPRY2 | sprouty RTK signaling antagonist 2 | 13 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 5 | ||
| SPTBN1 | spectrin beta, non-erythrocytic 1 | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 18 | |
| SRGAP3 | SLIT-ROBO Rho GTPase activating protein 3 | 3 | Rare Single Gene Mutation | 2 | 6 | ||
| SRRM2 | serine/arginine repetitive matrix 2 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | 16 | |
| SRSF11 | serine and arginine rich splicing factor 11 | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| SSRP1 | structure specific recognition protein 1 | 11 | Rare Single Gene Mutation | 2 | 3 | ||
| ST7 | suppression of tumorigenicity 7 | 7 | Rare Single Gene Mutation | 2 | 4 | ||
| ST8SIA2 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 13 | ||
| STX1A | Syntaxin 1A (brain) | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 7 | ||
| STXBP5 | Syntaxin binding protein 5 (tomosyn) | 6 | Rare Single Gene Mutation | 2 | 9 | ||
| STYK1 | Serine/threonine/tyrosine kinase 1 | 12 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| SUPT16H | SPT16 homolog, facilitates chromatin remodeling subunit | 14 | Rare Single Gene Mutation, Syndromic | 2 | S | 11 | |
| SYAP1 | Synapse associated protein 1 | X | Rare Single Gene Mutation | 2 | 2 | ||
| SYN2 | Synapsin II | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 7 | ||
| SYNCRIP | synaptotagmin binding cytoplasmic RNA interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 2 | 10 | ||
| SYNE1 | spectrin repeat containing, nuclear envelope 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | 28 | ||
| SYNJ1 | synaptojanin 1 | 21 | Rare Single Gene Mutation | 2 | 3 | ||
| SYT17 | synaptotagmin XVII | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| TAF1C | TATA-box binding protein associated factor, RNA polymerase I subunit C | 16 | Rare Single Gene Mutation, Genetic Association | 2 | 6 | ||
| TAF4 | TATA-box binding protein associated factor 4 | 20 | Rare Single Gene Mutation, Syndromic | 2 | S | 8 | |
| TAF6 | TATA-box binding protein associated factor 6 | 7 | Rare Single Gene Mutation, Syndromic | 2 | 9 | ||
| TAOK2 | TAO kinase 2 | 16 | Rare Single Gene Mutation, Functional | 2 | 14 | ||
| TBC1D31 | TBC1 domain family, member 31 | 8 | Rare Single Gene Mutation | 2 | 7 | ||
| TBC1D5 | TBC1 domain family, member 5 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 12 | ||
| STK39 | serine threonine kinase 39 (STE20/SPS1 homolog, yeast) | 2 | Genetic Association | 2 | 5 | ||
| TBL1X | transducin (beta)-like 1X-linked | X | Genetic Association | 2 | 1 | ||
| TDO2 | tryptophan 2,3-dioxygenase | 4 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| TECTA | tectorin alpha | 11 | Rare Single Gene Mutation | 2 | 11 | ||
| TERB2 | telomere repeat binding bouquet formation protein 2 | 15 | Rare Single Gene Mutation | 2 | 1 | ||
| TERF2 | Telomeric repeat binding factor 2 | 16 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| TET2 | Tet methylcytosine dioxygenase 2 | 4 | Rare Single Gene Mutation, Functional | 2 | 8 | ||
| THBS1 | Thrombospondin 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 6 | ||
| THRA | thyroid hormone receptor alpha | 17 | Rare Single Gene Mutation, Functional | 2 | 6 | ||
| TM4SF19 | transmembrane 4 L six family member 19 | 3 | Rare Single Gene Mutation | 2 | 5 | ||
| TMEM39B | transmembrane protein 39B | 1 | Rare Single Gene Mutation | 2 | 6 | ||
| TMLHE | trimethyllysine hydroxylase, epsilon | X | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 11 | ||
| TNRC6B | Trinucleotide repeat containing 6B | 22 | Rare Single Gene Mutation, Syndromic | 2 | 25 | ||
| TNRC6C | trinucleotide repeat containing adaptor 6C | 17 | Rare Single Gene Mutation | 2 | 7 | ||
| TOP2B | DNA topoisomerase II beta | 3 | Rare Single Gene Mutation, Functional | 2 | 9 | ||
| TOP3B | Topoisomerase (DNA) III beta | 22 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 10 | ||
| TPO | Thyroid peroxidase | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| TRAPPC9 | trafficking protein particle complex 9 | 8 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 29 | ||
| TRIM33 | Tripartite motif containing 33 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | 11 | Rare Single Gene Mutation, Functional | 2 | 7 | ||
| TRPM1 | transient receptor potential cation channel subfamily M member 1 | 15 | Rare Single Gene Mutation | 2 | 7 | ||
| TSPAN17 | tetraspanin 17 | 5 | Rare Single Gene Mutation | 2 | 4 | ||
| TSPAN4 | tetraspanin 4 | 11 | Rare Single Gene Mutation | 2 | 5 | ||
| TSPAN7 | tetraspanin 7 | X | Rare Single Gene Mutation, Functional | 2 | 12 | ||
| TSPOAP1 | TSPO associated protein 1 | 17 | Rare Single Gene Mutation | 2 | 9 | ||
| TTN | titin | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | 38 | |
| TUBGCP5 | tubulin, gamma complex associated protein 5 | 15 | Rare Single Gene Mutation | 2 | 6 | ||
| UBA7 | ubiquitin like modifier activating enzyme 7 | 3 | Rare Single Gene Mutation | 2 | 4 | ||
| UBE2H | ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) | 7 | Rare Single Gene Mutation, Genetic Association | 2 | 3 | ||
| UBE3C | Ubiquitin protein ligase E3C | 7 | Rare Single Gene Mutation, Syndromic | 2 | 8 | ||
| UBN2 | ubinuclein 2 | 7 | Rare Single Gene Mutation | 2 | 5 | ||
| UBR3 | ubiquitin protein ligase E3 component n-recognin 3 | 2 | Rare Single Gene Mutation | 2 | 7 | ||
| UBR5 | ubiquitin protein ligase E3 component n-recognin 5 | 8 | Rare Single Gene Mutation, Syndromic | 2 | 15 | ||
| UIMC1 | ubiquitin interaction motif containing 1 | 5 | Rare Single Gene Mutation | 2 | 6 | ||
| UNC13A | unc-13 homolog A | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | 13 | |
| UNC79 | unc-79 homolog, NALCN channel complex subunit | 14 | Rare Single Gene Mutation, Functional | 2 | 11 | ||
| UNC80 | unc-80 homolog, NALCN activator | 2 | Rare Single Gene Mutation | 2 | 13 | ||
| UPF2 | UPF2, regulator of nonsense mediated mRNA decay | 10 | Rare Single Gene Mutation, Functional | 2 | 10 | ||
| USH2A | usherin | 1 | Rare Single Gene Mutation | 2 | 14 | ||
| USP15 | ubiquitin specific peptidase 15 | 12 | Rare Single Gene Mutation | 2 | 6 | ||
| USP45 | Ubiquitin specific peptidase 45 | 6 | Rare Single Gene Mutation | 2 | 8 | ||
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 20 | |
| USP9Y | ubiquitin specific peptidase 9, Y-linked | Y | Rare Single Gene Mutation, Genetic Association | 2 | 2 | ||
| VASH1 | vasohibin 1 | 14 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| VDR | vitamin D receptor | 12 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 11 | ||
| VIL1 | Villin 1 | 2 | Rare Single Gene Mutation | 2 | 4 | ||
| VSIG4 | V-set and immunoglobulin domain containing 4 | X | Rare Single Gene Mutation | 2 | 4 | ||
| WDFY4 | WDFY family member 4 | 10 | Rare Single Gene Mutation | 2 | 15 | ||
| WNK3 | WNK lysine deficient protein kinase 3 | X | Rare Single Gene Mutation | 2 | 9 | ||
| WNT1 | Wingless-type MMTV integration site family, member 1 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 6 | ||
| WWOX | WW domain containing oxidoreductase | 16 | Rare Single Gene Mutation, Syndromic | 2 | 18 | ||
| XPO1 | exportin 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | 12 | ||
| YEATS2 | YEATS domain containing 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| YTHDC2 | YTH domain containing 2 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | 9 | ||
| YWHAE | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 17 | Rare Single Gene Mutation | 2 | 5 | ||
| ZBTB16 | Zinc finger and BTB domain containing 16 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 4 | ||
| ZC3H11A | zinc finger CCCH-type containing 11A | 1 | Rare Single Gene Mutation | 2 | 5 | ||
| ZC3H4 | zinc finger CCCH-type containing 4 | 19 | Rare Single Gene Mutation | 2 | 9 | ||
| ZFYVE26 | zinc finger FYVE-type containing 26 | 14 | Rare Single Gene Mutation | 2 | 7 | ||
| ZMIZ1 | zinc finger MIZ-type containing 1 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | 15 | |
| ZMYM2 | zinc finger MYM-type containing 2 | 13 | Rare Single Gene Mutation, Syndromic | 2 | S | 12 | |
| ZMYND11 | Zinc finger, MYND-type containing 11 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 2 | 20 | ||
| ZNF18 | zinc finger protein 18 | 17 | Rare Single Gene Mutation | 2 | 3 | ||
| ZNF385B | Zinc finger protein 385B | 2 | Rare Single Gene Mutation, Genetic Association | 2 | 4 | ||
| ZNF517 | Zinc finger protein 517 | 8 | Rare Single Gene Mutation | 2 | 6 | ||
| ZNF548 | zinc finger protein 548 | 19 | Rare Single Gene Mutation | 2 | 5 | ||
| ZNF559 | Zinc finger protein 559 | 19 | Rare Single Gene Mutation | 2 | 10 | ||
| ZNF626 | zinc finger protein 626 | 19 | Rare Single Gene Mutation | 2 | 5 | ||
| ZNF711 | zinc finger protein 711 | X | Rare Single Gene Mutation | 2 | 5 | ||
| ZNF713 | Zinc finger protein 713 | 7 | Rare Single Gene Mutation | 2 | 4 | ||
| ZNF774 | Zinc finger protein 774 | 15 | Rare Single Gene Mutation | 2 | 5 | ||
| ZNF804A | Zinc finger protein 804A | 2 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | 18 | ||
| ZNF827 | Zinc finger protein 827 | 4 | Rare Single Gene Mutation, Genetic Association | 2 | 5 | ||
| ZWILCH | zwilchkinetochore protein | 15 | Rare Single Gene Mutation | 2 | 5 |
3 Category 3 [238 genes]
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | reports |
|---|---|---|---|---|---|---|---|
| ABCA2 | ATP binding cassette subfamily A member 2 | 9 | Rare Single Gene Mutation | 3 | 8 | ||
| ABL2 | ABL proto-oncogene 2, non-receptor tyrosine kinase | 1 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| ADCY1 | adenylate cyclase 1 | 7 | Rare Single Gene Mutation | 3 | 5 | ||
| ADGRB1 | adhesion G protein-coupled receptor B1 | 8 | Rare Single Gene Mutation, Functional | 3 | 12 | ||
| ADGRL1 | adhesion G protein-coupled receptor L1 | 19 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| AGAP5 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 | 10 | Rare Single Gene Mutation | 3 | 2 | ||
| ALDH1L1 | aldehyde dehydrogenase 1 family member L1 | 3 | Rare Single Gene Mutation | 3 | 7 | ||
| ARHGAP30 | Rho GTPase activating protein 30 | 1 | Rare Single Gene Mutation | 3 | 3 | ||
| ARHGEF2 | Rho/Rac guanine nucleotide exchange factor 2 | 1 | Rare Single Gene Mutation, Syndromic | 3 | 10 | ||
| ARID1A | AT-rich interaction domain 1A | 1 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 11 | |
| ASB11 | ankyrin repeat and SOCS box containing 11 | X | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 5 | ||
| ATP2B1 | ATPase plasma membrane Ca2+ transporting 1 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| ATP9A | ATPase phospholipid transporting 9A | 20 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| ATXN2 | ataxin 2 | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| BACE1 | beta-secretase 1 | 11 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| BAIAP2L1 | BAR/IMD domain containing adaptor protein 2 like 1 | 7 | Rare Single Gene Mutation | 3 | 6 | ||
| BCL11B | BCL11 transcription factor B | 14 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 13 | ||
| BPTF | bromodomain PHD finger transcription factor | 17 | Rare Single Gene Mutation, Syndromic | 3 | 11 | ||
| BRINP3 | BMP/retinoic acid inducible neural specific 3 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 4 | ||
| BSN | bassoon presynaptic cytomatrix protein | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 12 | ||
| ASB9 | ankyrin repeat and SOCS box containing 9 | X | Genetic Association | 3 | 1 | ||
| CACNB1 | calcium voltage-gated channel auxiliary subunit beta 1 | 17 | Rare Single Gene Mutation | 3 | 3 | ||
| CAMK2D | calcium/calmodulin dependent protein kinase II delta | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| CAPZA2 | capping actin protein of muscle Z-line subunit alpha 2 | 7 | Rare Single Gene Mutation | 3 | 3 | ||
| CAT | catalase | 11 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| CBX1 | chromobox 1 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| CBX4 | chromobox 4 | 17 | Rare Single Gene Mutation | 3 | 3 | ||
| CDC42BPA | CDC42 binding protein kinase alpha | 1 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| CDH2 | cadherin 2 | 18 | Rare Single Gene Mutation, Syndromic | 3 | S | 8 | |
| CDK19 | cyclin dependent kinase 19 | 6 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | 9 | Rare Single Gene Mutation, Syndromic | 3 | 15 | ||
| CDON | cell adhesion associated, oncogene regulated | 11 | Rare Single Gene Mutation | 3 | 5 | ||
| CERT1 | ceramide transporter 1 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | 10 | |
| CHD4 | chromodomain helicase DNA binding protein 4 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 8 | |
| CHD9 | chromodomain helicase DNA binding protein 9 | 16 | Rare Single Gene Mutation | 3 | 8 | ||
| CHM | CHMRab escort protein | X | Rare Single Gene Mutation | 3 | 8 | ||
| CHST2 | carbohydrate sulfotransferase 2 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
| CLIP2 | CAP-Gly domain containing linker protein 2 | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 3 | ||
| CLTC | clathrin heavy chain | 17 | Rare Single Gene Mutation | 3 | 8 | ||
| COL12A1 | collagen type XII alpha 1 chain | 6 | Rare Single Gene Mutation | 3 | 10 | ||
| CRMP1 | collapsin response mediator protein 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| CSMD2 | CUB and Sushi multiple domains 2 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 9 | ||
| CSMD3 | CUB and Sushi multiple domains 3 | 8 | Rare Single Gene Mutation, Functional | 3 | 12 | ||
| CSNK1G1 | casein kinase 1 gamma 1 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| CTPS1 | CTP synthase 1 | 1 | Rare Single Gene Mutation | 3 | 3 | ||
| CTR9 | CTR9homolog, Paf1/RNA polymerase II complex component | 11 | Rare Single Gene Mutation, Syndromic | 3 | S | 10 | |
| CUL2 | cullin 2 | 10 | Rare Single Gene Mutation | 3 | 5 | ||
| CUL4B | cullin 4B | X | Rare Single Gene Mutation | 3 | S | 5 | |
| CXXC5 | CXXC finger protein 5 | 5 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| CYFIP2 | cytoplasmic FMR1 interacting protein 2 | 5 | Rare Single Gene Mutation, Functional | 3 | 12 | ||
| DENND2B | DENN domain containing 2B | 11 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| DGKI | diacylglycerol kinase iota | 7 | Rare Single Gene Mutation, Genetic Association | 3 | 5 | ||
| DHX9 | DExH-box helicase 9 | 1 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| DNAJC5 | DnaJ heat shock protein family (Hsp40) member C5 | 20 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| DNM1 | dynamin 1 | 9 | Rare Single Gene Mutation | 3 | 13 | ||
| DOP1A | DOP1 leucine zipper like protein A | 6 | Rare Single Gene Mutation | 3 | 8 | ||
| DPYSL5 | dihydropyrimidinase like 5 | 2 | Rare Single Gene Mutation, Syndromic | 3 | 3 | ||
| EIF3F | eukaryotic translation initiation factor 3 subunit F | 11 | Rare Single Gene Mutation | 3 | 8 | ||
| EIF4G1 | eukaryotic translation initiation factor 4 gamma 1 | 3 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| EIF5A | eukaryotic translation initiation factor 5A | 17 | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| ENOX2 | ecto-NOX disulfide-thiol exchanger 2 | X | Rare Single Gene Mutation, Genetic Association | 3 | 2 | ||
| ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | 6 | Rare Single Gene Mutation | 3 | 5 | ||
| EPHB1 | EPH receptor B1 | 3 | Rare Single Gene Mutation | 3 | 11 | ||
| FABP4 | fatty acid binding protein 4 | 8 | Rare Single Gene Mutation | 3 | 3 | ||
| FAM53C | family with sequence similarity 53 member C | 5 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| FBXL13 | F-box and leucine rich repeat protein 13 | 7 | Rare Single Gene Mutation | 3 | 4 | ||
| FGF13 | fibroblast growth factor 13 | X | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 4 | |
| FGF14 | fibroblast growth factor 14 | 13 | Rare Single Gene Mutation | 3 | 2 | ||
| FLNA | filamin A | X | Rare Single Gene Mutation, Syndromic, Functional | 3 | 14 | ||
| FRMD5 | FERM domain containing 5 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 7 | |
| FRRS1L | ferric chelate reductase 1 like | 9 | Rare Single Gene Mutation | 3 | 2 | ||
| FRYL | FRY like transcription coactivator | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 11 | |
| FXN | frataxin | 9 | Rare Single Gene Mutation | 3 | 2 | ||
| GABRA2 | gamma-aminobutyric acid type A receptor subunit alpha2 | 4 | Rare Single Gene Mutation, Functional | 3 | 8 | ||
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma 2 | 5 | Rare Single Gene Mutation, Genetic Association | 3 | 12 | ||
| GLI3 | GLI family zinc finger 3 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| GLS | glutaminase | 2 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| GPC5 | glypican 5 | 13 | Rare Single Gene Mutation | 3 | 9 | ||
| GRB10 | growth factor receptor bound protein 10 | 7 | Rare Single Gene Mutation, Functional | 3 | 13 | ||
| GSPT2 | G1 to S phase transition 2 | X | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| H3-3B | H3.3 histone B | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | S | 8 | |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 6 | Rare Single Gene Mutation, Syndromic | 3 | 13 | ||
| HCN1 | Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 | 5 | Rare Single Gene Mutation, Genetic Association | 3 | 15 | ||
| HECTD1 | HECT domain E3 ubiquitin protein ligase 1 | 14 | Rare Single Gene Mutation | 3 | 7 | ||
| HNRNPL | heterogeneous nuclear ribonucleoprotein L | 19 | Rare Single Gene Mutation | 3 | 2 | ||
| HTR3C | 5-hydroxytryptamine (serotonin) receptor 3, family member C | 3 | Rare Single Gene Mutation, Genetic Association | 3 | 8 | ||
| IGF1 | insulin like growth factor 1 | 12 | Rare Single Gene Mutation, Functional | 3 | 8 | ||
| IKZF1 | IKAROS family zinc finger 1 | 7 | Rare Single Gene Mutation | 3 | 7 | ||
| IRX5 | iroquois homeobox 5 | 16 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| ITGA8 | integrin subunit alpha 8 | 10 | Rare Single Gene Mutation | 3 | 8 | ||
| KAT6B | lysine acetyltransferase 6B | 10 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 15 | ||
| KCNA2 | potassium voltage-gated channel subfamily A member 2 | 1 | Rare Single Gene Mutation | 3 | 12 | ||
| KCNA3 | potassium voltage-gated channel subfamily A member 3 | 1 | Rare Single Gene Mutation | 3 | 2 | ||
| KCNC2 | potassium voltage-gated channel subfamily C member 2 | 12 | Rare Single Gene Mutation | 3 | 16 | ||
| KCNH1 | potassium voltage-gated channel subfamily H member 1 | 1 | Rare Single Gene Mutation | 3 | S | 6 | |
| KCNH5 | potassium voltage-gated channel subfamily H member 5 | 14 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| KCNH7 | potassium voltage-gated channel subfamily H member 7 | 2 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 11 | ||
| KCNN2 | potassium calcium-activated channel subfamily N member 2 | 5 | Rare Single Gene Mutation | 3 | 5 | ||
| HTR2C | 5-hydroxytryptamine receptor 2C | X | Genetic Association, Functional | 3 | 2 | ||
| KDM1A | lysine demethylase 1A | 1 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| KDM2A | lysine demethylase 2A | 11 | Rare Single Gene Mutation, Syndromic | 3 | 12 | ||
| KDM3A | lysine demethylase 3A | 2 | Rare Single Gene Mutation | 3 | 4 | ||
| KLF7 | Kruppel like factor 7 | 2 | Rare Single Gene Mutation, Functional | 3 | 15 | ||
| KMT2B | lysine methyltransferase 2B | 19 | Rare Single Gene Mutation, Syndromic | 3 | 15 | ||
| KMT2D | lysine methyltransferase 2D | 12 | Rare Single Gene Mutation, Syndromic | 3 | 16 | ||
| KNG1 | kininogen 1 | 3 | Rare Single Gene Mutation | 3 | 2 | ||
| KSR2 | kinase suppressor of ras 2 | 12 | Rare Single Gene Mutation | 3 | 5 | ||
| LARP1 | La ribonucleoprotein 1, translational regulator | 5 | Rare Single Gene Mutation | 3 | 4 | ||
| LAS1L | LAS1 like ribosome biogenesis factor | X | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| LDLR | low density lipoprotein receptor | 19 | Rare Single Gene Mutation | 3 | 4 | ||
| LMTK3 | lemur tyrosine kinase 3 | 19 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| KIZ | kizuna centrosomal protein | 20 | Genetic Association, Functional | 3 | 2 | ||
| MACF1 | microtubule actin crosslinking factor 1 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 14 | |
| MADD | MAP kinase activating death domain | 11 | Rare Single Gene Mutation, Syndromic | 3 | 12 | ||
| MAN1B1 | mannosidase alpha class 1B member 1 | 9 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| MAP4K1 | mitogen-activated protein kinase kinase kinase kinase 1 | 19 | Rare Single Gene Mutation | 3 | 6 | ||
| MAPK8IP1 | mitogen-activated protein kinase 8 interacting protein 1 | 11 | Rare Single Gene Mutation | 3 | 5 | ||
| MAPT | microtubule associated protein tau | 17 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 5 | ||
| MAST1 | microtubule associated serine/threonine kinase 1 | 19 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| MAST3 | microtubule associated serine/threonine kinase 3 | 19 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| MDGA1 | MAM domain containing glycosylphosphatidylinositol anchor 1 | 6 | Rare Single Gene Mutation, Functional | 3 | 8 | ||
| METTL14 | methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit | 4 | Rare Single Gene Mutation, Functional | 3 | 8 | ||
| MINK1 | misshapen like kinase 1 | 17 | Rare Single Gene Mutation | 3 | 9 | ||
| MKRN1 | makorin ring finger protein 1 | 7 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| MSL2 | MSL complex subunit 2 | 3 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| MSRA | methionine sulfoxide reductase A | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 14 | ||
| MSX2 | msh homeobox 2 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | 3 | |
| MYLK | myosin light chain kinase | 3 | Rare Single Gene Mutation | 3 | 6 | ||
| MYO7A | myosin VIIA | 11 | Rare Single Gene Mutation | 3 | 6 | ||
| MYOCD | myocardin | 17 | Rare Single Gene Mutation | 3 | 4 | ||
| NAA10 | N-alpha-acetyltransferase 10, NatA catalytic subunit | X | Rare Single Gene Mutation, Syndromic | 3 | S | 14 | |
| NASP | nuclear autoantigenic sperm protein | 1 | Rare Single Gene Mutation | 3 | 4 | ||
| NCAPH2 | non-SMC condensin II complex subunit H2 | 22 | Rare Single Gene Mutation | 3 | 2 | ||
| NEDD4 | NEDD4E3 ubiquitin protein ligase | 15 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| NKX2-2 | NK2 homeobox 2 | 20 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 3 | ||
| NMT1 | N-myristoyltransferase 1 | 17 | Rare Single Gene Mutation | 3 | 4 | ||
| NPAS3 | neuronal PAS domain protein 3 | 14 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| NPFFR2 | neuropeptide FF receptor 2 | 4 | Rare Single Gene Mutation | 3 | 7 | ||
| NPTN | neuroplastin | 15 | Rare Single Gene Mutation | 3 | 3 | ||
| NUCLEOLIN | nucleolinmultifunctional protein | 2 | Rare Single Gene Mutation | 3 | 5 | ||
| NXF1 | nuclear RNA export factor 1 | 11 | Rare Single Gene Mutation | 3 | 2 | ||
| OTULIN | OTU deubiquitinase with linear linkage specificity | 5 | Rare Single Gene Mutation, Functional | 3 | 6 | ||
| PABPC1 | poly(A) binding protein cytoplasmic 1 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| PC | pyruvate carboxylase | 11 | Rare Single Gene Mutation | 3 | 10 | ||
| PDE3B | phosphodiesterase 3B | 11 | Rare Single Gene Mutation | 3 | 9 | ||
| PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | X | Rare Single Gene Mutation, Genetic Association | 3 | 8 | ||
| PEBP4 | phosphatidylethanolamine binding protein 4 | 8 | Rare Single Gene Mutation | 3 | 2 | ||
| PHF14 | PHD finger protein 14 | 7 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| PHLPP1 | PH domain and leucine rich repeat protein phosphatase 1 | 18 | Rare Single Gene Mutation | 3 | 8 | ||
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3 | Rare Single Gene Mutation, Syndromic | 3 | 12 | ||
| PJA1 | praja ring finger ubiquitin ligase 1 | X | Syndromic | 3 | S | 1 | |
| PKD1 | polycystin 1, transient receptor potential channel interacting | 16 | Rare Single Gene Mutation | 3 | 11 | ||
| PLAA | phospholipase A2 activating protein | 9 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 8 | ||
| PLEKHA8 | pleckstrin homology domain containing A8 | 7 | Rare Single Gene Mutation | 3 | 2 | ||
| PLPPR4 | phospholipid phosphatase related 4 | 1 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| POLR2A | RNA polymerase II subunit A | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| POLR3A | RNA polymerase III subunit A | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 14 | |
| PPFIA3 | PTPRF interacting protein alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 8 | |
| PPP2R1A | protein phosphatase 2 scaffold subunit Aalpha | 19 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| PPP2R5C | protein phosphatase 2 regulatory subunit B'gamma | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 6 | |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | 16 | |
| PRPF19 | pre-mRNA processing factor 19 | 11 | Rare Single Gene Mutation | 3 | 4 | ||
| PRPF8 | pre-mRNA processing factor 8 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 13 | |
| PRR25 | proline rich 25 | 16 | Rare Single Gene Mutation | 3 | 2 | ||
| PSMC5 | proteasome 26S subunit, ATPase 5 | 17 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| PTCH1 | patched 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 3 | 15 | ||
| PTDSS1 | phosphatidylserine synthase 1 | 8 | Rare Single Gene Mutation, Syndromic | 3 | 6 | ||
| PTPRS | protein tyrosine phosphatase receptor type S | 19 | Rare Single Gene Mutation, Functional | 3 | 11 | ||
| PUF60 | poly(U) binding splicing factor 60 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| RAB11FIP4 | RAB11 family interacting protein 4 | 17 | Rare Single Gene Mutation, Genetic Association | 3 | 3 | ||
| RALGAPA1 | Ral GTPase activating protein catalytic subunit alpha 1 | 14 | Rare Single Gene Mutation | 3 | 7 | ||
| RANBP9 | RAN binding protein 9 | 6 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| RAP1A | RAP1A, member of RAS oncogene family | 1 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| RAPGEF2 | Rap guanine nucleotide exchange factor 2 | 4 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| RFX4 | regulatory factor X4 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 3 | S | 3 | |
| RFX7 | regulatory factor X7 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| RICTOR | RPTOR independent companion of MTOR complex 2 | 5 | Rare Single Gene Mutation | 3 | 4 | ||
| RIMS2 | regulating synaptic membrane exocytosis 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | 8 | |
| RPH3A | rabphilin 3A | 12 | Rare Single Gene Mutation, Functional | 3 | 9 | ||
| RSF1 | remodeling and spacing factor 1 | 11 | Rare Single Gene Mutation, Syndromic | 3 | 5 | ||
| SCGN | secretagogin, EF-hand calcium binding protein | 6 | Rare Single Gene Mutation, Functional | 3 | 4 | ||
| SCN3A | sodium voltage-gated channel alpha subunit 3 | 2 | Rare Single Gene Mutation | 3 | 15 | ||
| SENP1 | SUMO specific peptidase 1 | 12 | Rare Single Gene Mutation | 3 | 3 | ||
| SENP6 | SUMO specific peptidase 6 | 6 | Rare Single Gene Mutation | 3 | 4 | ||
| SH3RF1 | SH3 domain containing ring finger 1 | 4 | Rare Single Gene Mutation, Functional | 3 | 8 | ||
| SLC1A2 | Solute carrier family 1 (glial high affinity glutamate transporter), member 2 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 13 | ||
| SLC23A1 | solute carrier family 23 member 1 | 5 | Rare Single Gene Mutation | 3 | 8 | ||
| SLC9A1 | solute carrier family 9 member A1 | 1 | Rare Single Gene Mutation | 3 | S | 8 | |
| SLFN5 | schlafen family member 5 | 17 | Rare Single Gene Mutation | 3 | 4 | ||
| SNCAIP | synuclein alpha interacting protein | 5 | Rare Single Gene Mutation | 3 | 3 | ||
| SPTAN1 | spectrin alpha, non-erythrocytic 1 | 9 | Rare Single Gene Mutation | 3 | 13 | ||
| SRSF1 | serine and arginine rich splicing factor 1 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | 4 | |
| SSR4 | signal sequence receptor subunit 4 | X | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| SYBU | syntabulin | 8 | Rare Single Gene Mutation | 3 | 2 | ||
| SYCE1 | synaptonemal complex central element protein 1 | 10 | Rare Single Gene Mutation | 3 | 3 | ||
| SYP | synaptophysin | X | Rare Single Gene Mutation | 3 | 6 | ||
| TBCB | tubulin folding cofactor B | 19 | Rare Single Gene Mutation | 3 | 3 | ||
| TBX22 | T-box transcription factor 22 | X | Rare Single Gene Mutation | 3 | 2 | ||
| TCEAL1 | transcription elongation factor A like 1 | X | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| TCF12 | transcription factor 12 | 15 | Rare Single Gene Mutation, Syndromic | 3 | 10 | ||
| TFB2M | transcription factor B2, mitochondrial | 1 | Rare Single Gene Mutation | 3 | 1 | ||
| TGM1 | transglutaminase 1 | 14 | Rare Single Gene Mutation | 3 | 5 | ||
| TLN2 | talin 2 | 15 | Rare Single Gene Mutation, Functional | 3 | 10 | ||
| TMEM134 | transmembrane protein 134 | 11 | Rare Single Gene Mutation | 3 | 3 | ||
| TNPO3 | transportin 3 | 7 | Rare Single Gene Mutation | 3 | 10 | ||
| TNS2 | tensin 2 | 12 | Rare Single Gene Mutation | 3 | 5 | ||
| TRAP1 | TNF receptor associated protein 1 | 16 | Rare Single Gene Mutation | 3 | 4 | ||
| TRAPPC2L | trafficking protein particle complex 2 like | 16 | Rare Single Gene Mutation, Syndromic | 3 | 4 | ||
| TRIM32 | tripartite motif containing 32 | 9 | Rare Single Gene Mutation, Functional | 3 | 5 | ||
| TRIM8 | tripartite motif containing 8 | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | 7 | |
| TRPC4 | transient receptor potential cation channel subfamily C member 4 | 13 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 6 | ||
| TRPC5 | transient receptor potential cation channel subfamily C member 5 | X | Rare Single Gene Mutation | 3 | 10 | ||
| TRPM6 | transient receptor potential cation channel subfamily M member 6 | 9 | Rare Single Gene Mutation | 3 | 6 | ||
| TRPM7 | transient receptor potential cation channel subfamily M member 7 | 15 | Rare Single Gene Mutation | 3 | 8 | ||
| TSPYL2 | TSPY like 2 | X | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| U2AF2 | U2 small nuclear RNA auxiliary factor 2 | 19 | Rare Single Gene Mutation, Syndromic | 3 | 8 | ||
| UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 | 2 | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| UNC5D | unc-5 netrin receptor D | 8 | Rare Single Gene Mutation | 3 | 6 | ||
| USP24 | ubiquitin specific peptidase 24 | 1 | Rare Single Gene Mutation, Genetic Association | 3 | 14 | ||
| USP27X | ubiquitin specific peptidase 27 X-linked | X | Rare Single Gene Mutation | 3 | 7 | ||
| USP30 | ubiquitin specific peptidase 30 | 12 | Rare Single Gene Mutation | 3 | 4 | ||
| VCP | valosin containing protein | 9 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| VPS54 | VPS54subunit of GARP complex | 2 | Rare Single Gene Mutation | 3 | 4 | ||
| VWA7 | von Willebrand factor A domain containing 7 | 6 | Rare Single Gene Mutation | 3 | 3 | ||
| WDR37 | WD repeat domain 37 | 10 | Rare Single Gene Mutation, Syndromic | 3 | 7 | ||
| WWP1 | WW domain containing E3 ubiquitin protein ligase 1 | 8 | Rare Single Gene Mutation | 3 | 2 | ||
| XRCC6 | X-ray repair cross complementing 6 | 22 | Rare Single Gene Mutation | 3 | 3 | ||
| YWHAG | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | 7 | Rare Single Gene Mutation, Syndromic | 3 | S | 16 | |
| YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | 16 | ||
| ZBTB47 | zinc finger and BTB domain containing 47 | 3 | Rare Single Gene Mutation | 3 | 3 | ||
| ZEB2 | zinc finger E-box binding homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic | 3 | 9 | ||
| ZFHX3 | zinc finger homeobox 3 | 16 | Rare Single Gene Mutation, Syndromic | 3 | S | 16 | |
| ZFHX4 | zinc finger homeobox 4 | 8 | Rare Single Gene Mutation, Syndromic | 3 | S | 6 | |
| ZFX | zinc finger protein X-linked | X | Rare Single Gene Mutation, Syndromic | 3 | S | 5 | |
| ZFYVE9 | zinc finger FYVE-type containing 9 | 1 | Rare Single Gene Mutation, Functional | 3 | 7 | ||
| ZNF532 | zinc finger protein 532 | 18 | Rare Single Gene Mutation | 3 | 5 | ||
| ZNF536 | zinc finger protein 536 | 19 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | 12 | ||
| ZNF644 | zinc finger protein 644 | 1 | Rare Single Gene Mutation | 3 | 5 |