Gene Scoring / Category 1 244 genes
Database updated on January 14, 2026
Category:
Reports:
Reports:
| 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 | 12 | |
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 100 | |
| 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 | 34 | |
| 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 | 44 | ||
| ANK3 | ankyrin 3 | 10 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 39 | ||
| ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 88 | |
| 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 | 5 | ||
| ARF3 | ADP ribosylation factor 3 | 12 | Rare Single Gene Mutation, Syndromic | 1 | 5 | ||
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 23 | |
| ARID1B | AT-rich interaction domain 1B | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 102 | |
| 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 | 51 | ||
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 63 | |
| ATRX | alpha thalassemia/mental retardation syndrome X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | 42 | ||
| AUTS2 | activator of transcription and developmental regulatorAUTS2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 81 | ||
| BAZ2B | bromodomain adjacent to zinc finger domain 2B | 2 | Rare Single Gene Mutation | 1 | 9 | ||
| BCKDK | Branched chain ketoacid dehydrogenase kinase | 16 | Rare Single Gene Mutation | 1 | 10 | ||
| 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 | 16 | |
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 51 | |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 68 | |
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 1 | 25 | ||
| CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation, Functional | 1 | 17 | ||
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 15 | |
| CAMTA2 | calmodulin binding transcription activator 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | 3 | ||
| CAPRIN1 | Cell cycle associated protein 1 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 7 | ||
| 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 | 10 | ||
| 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 | 93 | |
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 27 | |
| CHD7 | chromodomain helicase DNA binding protein 7 | 8 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 55 | |
| CHD8 | chromodomain helicase DNA binding protein 8 | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 137 | |
| 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 | 26 | |
| CORO1A | coronin 1A | 16 | Rare Single Gene Mutation | 1 | 3 | ||
| CPSF7 | cleavage and polyadenylation specific factor 7 | 11 | Rare Single Gene Mutation | 1 | 8 | ||
| CREBBP | CREB binding protein | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 47 | |
| CSDE1 | cold shock domain containing E1 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 9 | |
| CSNK2A1 | casein kinase 2 alpha 1 | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| 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 | 48 | ||
| CUL3 | Cullin 3 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 43 | ||
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 66 | |
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 42 | |
| 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 | 26 | ||
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 13 | |
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 39 | |
| DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 17 | ||
| 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 | 42 | ||
| DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 96 | |
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 27 | |
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 47 | |
| 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 | 6 | ||
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 34 | |
| 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 | 67 | |
| FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 91 | |
| FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 60 | ||
| 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 | 53 | ||
| GFAP | glial fibrillary acidic protein | 17 | Rare Single Gene Mutation | 1 | 2 | ||
| GIGYF1 | GRB10 interacting GYF protein 1 | 7 | Rare Single Gene Mutation | 1 | 22 | ||
| GIGYF2 | GRB10 interacting GYF protein 2 | 2 | Rare Single Gene Mutation | 1 | 10 | ||
| GNAI1 | G protein subunit alpha i1 | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| GRIA2 | glutamate ionotropic receptor AMPA type subunit 2 | 4 | Rare Single Gene Mutation | 1 | 17 | ||
| GRIN1 | Glutamate receptor, ionotropic, N-methyl D-aspartate 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 34 | ||
| GRIN2A | glutamate receptor, ionotropic, N-methyl D-aspartate 2A | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 74 | ||
| GRIN2B | glutamate receptor, inotropic, N-methyl D-apartate 2B | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 95 | ||
| 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 | 13 | ||
| HIVEP2 | HIVEP zinc finger 2 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17 | |
| 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 | 42 | |
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 12 | ||
| IQSEC2 | IQ motif and Sec7 domain 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 61 | |
| IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 1 | S | 19 | |
| KANSL1 | KAT8 regulatory NSL complex subunit 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 13 | |
| KATNAL2 | Katanin p60 subunit A-like 2 | 18 | Rare Single Gene Mutation, Functional | 1 | 19 | ||
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 33 | |
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 70 | ||
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 22 | ||
| KDM2B | lysine demethylase 2B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 14 | ||
| KDM3B | lysine demethylase 3B | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 30 | ||
| KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | 52 | ||
| KDM6B | Lysine (K)-specific demethylase 6B | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 29 | ||
| KIAA0232 | KIAA0232 | 4 | Rare Single Gene Mutation | 1 | 4 | ||
| 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 | 57 | |
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 49 | |
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 26 | |
| KMT5B | lysine methyltransferase 5B | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 33 | ||
| LDB1 | LIM domain binding 1 | 10 | Rare Single Gene Mutation | 1 | 4 | ||
| 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 | 22 | ||
| 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 | 31 | |
| 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 | 50 | |
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24 | |
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 155 | |
| MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 60 | |
| MEF2C | myocyte enhancer factor 2C | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 62 | |
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | |
| 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 | 37 | |
| MYCBP2 | MYC binding protein 2 | 13 | Rare Single Gene Mutation, Syndromic | 1 | 12 | ||
| MYT1L | Myelin transcription factor 1-like | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 47 | ||
| NAA15 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 33 | |
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 30 | |
| NCKAP1 | NCK-associated protein 1 | 2 | Rare Single Gene Mutation, Syndromic | 1 | 18 | ||
| NCOA1 | nuclear receptor coactivator 1 | 2 | Rare Single Gene Mutation | 1 | 4 | ||
| 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 | 48 | |
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 23 | |
| NLGN2 | Neuroligin 2 | 17 | Rare Single Gene Mutation, Functional | 1 | 18 | ||
| 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 | 45 | ||
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 12 | |
| 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 | 125 | ||
| NRXN2 | neurexin 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 19 | ||
| NRXN3 | neurexin 3 | 14 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 31 | ||
| NSD1 | nuclear receptor binding SET domain protein 1 | 5 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 41 | |
| 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 | 21 | |
| PAH | Phenylalanine hydroxylase | 12 | Rare Single Gene Mutation, Syndromic | 1 | 13 | ||
| 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 | 6 | ||
| PHIP | pleckstrin homology domain interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 30 | |
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 74 | |
| 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 | 6 | ||
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 42 | |
| PPP5C | protein phosphatase 5 catalytic subunit | 19 | Rare Single Gene Mutation | 1 | 3 | ||
| PRR12 | proline rich 12 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 11 | |
| PRR14L | proline rich 14 like | 22 | Rare Single Gene Mutation | 1 | 6 | ||
| PRMT9 | protein arginine methyltransferase 9 | 4 | Rare Single Gene Mutation, Syndromic | 1 | 4 | ||
| PSMD11 | proteasome 26S subunit, non-ATPase 11 | 17 | Rare Single Gene Mutation, Syndromic | 1 | 3 | ||
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 7 | |
| PSMD6 | proteasome 26S subunit, non-ATPase 6 | 3 | Rare Single Gene Mutation | 1 | 3 | ||
| PTCHD1 | patched domain containing 1 | X | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 24 | ||
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 126 | |
| PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 1 | 9 | ||
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 33 | |
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 42 | |
| RALGAPB | Ral GTPase activating protein non-catalytic beta subunit | 20 | Rare Single Gene Mutation | 1 | 6 | ||
| RELN | Reelin | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 67 | ||
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 22 | |
| RFX3 | regulatory factor X3 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 13 | ||
| RIMS1 | Regulating synaptic membrane exocytosis 1 | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 14 | ||
| RNU2-2 | RNA, U2 small nuclear 2 | 11 | Syndromic | 1 | S | 3 | |
| RNU4-2 | RNA, U4 small nuclear 2 | 12 | Syndromic | 1 | S | 18 | |
| 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 | 16 | |
| 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 | 6 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 55 | |
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 114 | |
| SCN2A | sodium channel, voltage-gated, type II, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 158 | ||
| SCN8A | sodium channel, voltage gated, type VIII, alpha subunit | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 69 | ||
| SETBP1 | SET binding protein 1 | 18 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 41 | ||
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 18 | |
| SETD2 | SET domain containing 2 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 31 | ||
| SETD5 | SET domain containing 5 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 52 | |
| SHANK2 | SH3 and multiple ankyrin repeat domains 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 63 | ||
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 189 | |
| SF1 | splicing factor 1 | 11 | Rare Single Gene Mutation, Syndromic | 1 | 2 | ||
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 18 | |
| SKI | SKIproto-oncogene | 1 | Rare Single Gene Mutation, Syndromic | 1 | 9 | ||
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 67 | |
| 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 | 31 | |
| SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 27 | ||
| SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 22 | |
| SMARCA1 | SNF2 related chromatin remodeling ATPase 1 | X | Rare Single Gene Mutation, Syndromic | 1 | 4 | ||
| SON | SONDNA binding protein | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 29 | |
| 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 | 26 | |
| SPAST | Spastin | 2 | Rare Single Gene Mutation, Syndromic | 1 | 19 | ||
| SRCAP | Snf2 related CREBBP activator protein | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 19 | ||
| SRPRA | SRP receptor subunit alpha | 11 | Rare Single Gene Mutation | 1 | 3 | ||
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 84 | |
| SYN1 | Synapsin 1 | X | Rare Single Gene Mutation, Functional | 1 | 31 | ||
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 128 | |
| TANC2 | etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 21 | |
| 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 | 34 | ||
| TBR1 | T-box, brain, 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 50 | ||
| TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 35 | |
| TCF4 | Transcription factor 4 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 82 | |
| 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 | 4 | ||
| 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 | 27 | |
| 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, Functional | 1 | 59 | ||
| TRIP12 | Thyroid hormone receptor interactor 12 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 47 | |
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 21 | |
| 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 | 70 | |
| 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 | 56 | |
| UBR1 | ubiquitin protein ligase E3 component n-recognin 1 | 15 | Rare Single Gene Mutation | 1 | 5 | ||
| 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 | 22 | |
| VEZF1 | vascular endothelial zinc finger 1 | 17 | Rare Single Gene Mutation | 1 | 3 | ||
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 34 | |
| WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 34 | |
| WDFY3 | WD repeat and FYVE domain containing 3 | 4 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 28 | ||
| 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 | 1 | S | 32 | |
| ZBTB21 | zinc finger and BTB domain containing 21 | 21 | Rare Single Gene Mutation | 1 | 4 | ||
| 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 | 16 | |
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 20 | |
| ZNF865 | zinc finger protein 865 | 19 | Rare Single Gene Mutation, Syndromic | 1 | 5 |