Human Gene Module 1118 total genes
Database updated on February 1, 2023
Category:
Reports:
Reports:
| Status | Gene Symbol | Gene Name | Chromosome | Genetic Category | Gene Score | Syndromic | EAGLE Score | reports |
|---|---|---|---|---|---|---|---|---|
| ABAT | 4-aminobutyrate aminotransferase | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| ABCA10 | ATP-binding cassette, sub-family A (ABC1), member 10 | 17 | Rare Single Gene Mutation | 2 | – | 2 | ||
| ABCA13 | ATP binding cassette subfamily A member 13 | 7 | Rare Single Gene Mutation, Functional | 2 | – | 10 | ||
| ABCA7 | ATP-binding cassette, sub-family A (ABC1), member 7 | 19 | Rare Single Gene Mutation | 2 | – | 5 | ||
| ABL2 | ABL proto-oncogene 2, non-receptor tyrosine kinase | 1 | Rare Single Gene Mutation, Functional | 3 | – | 10 | ||
| ACE | angiotensin I converting enzyme | 17 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| ACHE | Acetylcholinesterase (Yt blood group) | 7 | Rare Single Gene Mutation | 2 | – | 7 | ||
| ACTB | actin beta | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 1 | 8 | |
| ACTL6B | actin like 6B | 7 | Rare Single Gene Mutation, Syndromic | – | S | – | 13 | |
| ACTN4 | actinin alpha 4 | 19 | Rare Single Gene Mutation | 2 | – | 6 | ||
| ACY1 | aminoacylase 1 | 3 | Rare Single Gene Mutation, Syndromic | – | S | – | 10 | |
| ADA | adenosine deaminase | 20 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| ADCY3 | adenylate cyclase 3 | 2 | Rare Single Gene Mutation | 2 | – | 3 | ||
| ADCY5 | Adenylate cyclase 5 | 3 | Rare Single Gene Mutation | 2 | – | 9 | ||
| ADGRL1 | adhesion G protein-coupled receptor L1 | 19 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 5 | |
| ADK | adenosine kinase | 10 | Rare Single Gene Mutation | 2 | – | 2 | ||
| ADNP | Activity-dependent neuroprotector homeobox | 20 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 41.5 | 64 | |
| ADORA3 | Adenosine A3 receptor | 1 | Rare Single Gene Mutation, Functional | 2 | – | 3 | ||
| ADSL | adenylosuccinate lyase | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | 0.35 | 9 | |
| ADSS2 | adenylosuccinate synthase 2 | 1 | Rare Single Gene Mutation | 2 | – | 3 | ||
| AFF2 | AF4/FMR2 family, member 2 | X | Rare Single Gene Mutation, Syndromic | 1 | 8.7 | 19 | ||
| AGAP1 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 | 2 | Rare Single Gene Mutation | 2 | – | 9 | ||
| AGAP2 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | 12 | Rare Single Gene Mutation | 2 | – | 6 | ||
| AGAP5 | ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 | 10 | Rare Single Gene Mutation | 3 | – | 2 | ||
| AGBL4 | ATP/GTP binding protein-like 4 | 1 | Rare Single Gene Mutation | 2 | – | 3 | ||
| AGMO | alkylglycerol monooxygenase | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| AGO1 | argonaute 1, RISC catalytic component | 1 | Rare Single Gene Mutation | 2 | – | 10 | ||
| AGO2 | argonaute RISC catalytic component 2 | 8 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 2 | |
| AGO3 | argonaute RISC catalytic component 3 | 1 | Rare Single Gene Mutation | 2 | – | 6 | ||
| AGO4 | argonaute RISC catalytic component 4 | 1 | Rare Single Gene Mutation | 2 | – | 4 | ||
| AGTR2 | angiotensin II receptor, type 2 | X | Rare Single Gene Mutation | 2 | – | 5 | ||
| AHDC1 | AT-hook DNA binding motif containing 1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 14.25 | 24 | |
| AHI1 | Abelson helper integration site 1 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | – | S | – | 20 | |
| AHNAK | AHNAKnucleoprotein | 11 | Rare Single Gene Mutation | 2 | – | 6 | ||
| AKAP9 | A kinase (PRKA) anchor protein 9 | 7 | Rare Single Gene Mutation | 2 | – | 6 | ||
| ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | 15 | Rare Single Gene Mutation, Syndromic | – | S | – | 6 | |
| ALDH1L1 | aldehyde dehydrogenase 1 family member L1 | 3 | Rare Single Gene Mutation | 3 | – | 6 | ||
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 2.35 | 14 | |
| ALG6 | ALG6, alpha-1,3-glucosyltransferase | 1 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| AMPD1 | Adenosine monophosphate deaminase 1 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| AMT | Aminomethyltransferase | 3 | Rare Single Gene Mutation | 2 | – | 1 | ||
| ANK2 | Ankyrin 2, neuronal | 4 | Rare Single Gene Mutation, Functional | 1 | 10.8 | 22 | ||
| ABCE1 | ATP binding cassette subfamily E member 1 | 4 | Rare Single Gene Mutation | 1 | – | 3 | ||
| ANK3 | ankyrin 3 | 10 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 7.3 | 30 | ||
| ANKRD11 | ankyrin repeat domain 11 | 16 | Rare Single Gene Mutation, Syndromic | 1 | S | 22.6 | 62 | |
| ANKRD17 | ankyrin repeat domain 17 | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 6 | |
| ANKS1B | ankyrin repeat and sterile alpha motif domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 4 | |
| ANXA1 | Annexin A1 | 9 | Rare Single Gene Mutation | 2 | – | 2 | ||
| AP1S2 | adaptor related protein complex 1 sigma 2 subunit | X | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| AP2S1 | adaptor related protein complex 2 subunit sigma 1 | 19 | Rare Single Gene Mutation | 1 | 0.2 | 3 | ||
| APBA2 | amyloid beta (A4) precursor protein-binding, family A, member 2 | 15 | Rare Single Gene Mutation | 2 | – | 8 | ||
| APBB1 | amyloid beta precursor protein binding family B member 1 | 11 | Rare Single Gene Mutation, Functional | 2 | – | 4 | ||
| APH1A | APH1A gamma secretase subunit | 1 | Rare Single Gene Mutation | 2 | – | 3 | ||
| ARHGAP11B | Rho GTPase activating protein 11B | 15 | Rare Single Gene Mutation | 2 | – | 3 | ||
| ARHGAP32 | Rho GTPase activating protein 32 | 11 | Rare Single Gene Mutation, Functional | 2 | – | 9 | ||
| ARHGAP5 | Rho GTPase activating protein 5 | 14 | Rare Single Gene Mutation | 2 | – | 6 | ||
| ARHGEF10 | Rho guanine nucleotide exchange factor 10 | 8 | Rare Single Gene Mutation, Functional | 2 | – | 6 | ||
| ARHGEF2 | Rho/Rac guanine nucleotide exchange factor 2 | 1 | Rare Single Gene Mutation, Syndromic | 3 | – | 7 | ||
| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | X | Rare Single Gene Mutation, Syndromic | 1 | S | 14.2 | 17 | |
| ARID1B | AT-rich interaction domain 1B | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 34.75 | 69 | |
| ARID2 | AT-rich interaction domain 2 | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 12 | |
| ARNT2 | aryl-hydrocarbon receptor nuclear translocator 2 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 15 | ||
| ARX | aristaless related homeobox | X | Rare Single Gene Mutation, Syndromic | 1 | S | 13.8 | 24 | |
| ADORA2A | adenosine A2a receptor | 22 | Genetic Association | 2 | – | 7 | ||
| ADRB2 | adrenergic, beta-2-, receptor, surface | 5 | Genetic Association | 2 | – | 10 | ||
| ANP32A | acidic nuclear phosphoprotein 32 family member A | 15 | Rare Single Gene Mutation, Functional | 1 | – | 4 | ||
| AR | androgen receptor | X | Genetic Association | 2 | – | 6 | ||
| ARF3 | ADP ribosylation factor 3 | 12 | Rare Single Gene Mutation, Syndromic | 1 | – | 5 | ||
| ASAP2 | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | 2 | Rare Single Gene Mutation | 2 | – | 4 | ||
| ASB14 | ankyrin repeat and SOCS box containing 14 | 3 | Rare Single Gene Mutation | 2 | – | 4 | ||
| ASH1L | Ash1 (absent, small, or homeotic)-like (Drosophila) | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 14.15 | 29 | ||
| ASMT | acetylserotonin O-methyltransferase | X,Y | Rare Single Gene Mutation, Genetic Association | 2 | – | 10 | ||
| ASPM | abnormal spindle microtubule assembly | 1 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 10 | ||
| ASTN2 | astrotactin 2 | 9 | Rare Single Gene Mutation, Genetic Association | 2 | 2.5 | 19 | ||
| ASXL3 | Additional sex combs like 3 (Drosophila) | 18 | Rare Single Gene Mutation, Syndromic | 1 | S | 28.85 | 40 | |
| ATP10A | Probable phospholipid-transporting ATPase VA | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 9 | ||
| ATP1A1 | ATPase Na+/K+ transporting subunit alpha 1 | 1 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 8 | |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 21 | |
| ATP2B1 | ATPase plasma membrane Ca2+ transporting 1 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 2 | |
| ATP2B2 | ATPase, Ca++ transporting, plasma membrane 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 12 | ||
| ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | 12 | Rare Single Gene Mutation | 2 | – | 4 | ||
| ATRX | alpha thalassemia/mental retardation syndrome X-linked | X | Rare Single Gene Mutation, Syndromic | 1 | – | 28 | ||
| AUTS2 | activator of transcription and developmental regulatorAUTS2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 35.5 | 56 | ||
| AVPR1A | arginine vasopressin receptor 1A | 12 | Rare Single Gene Mutation, Genetic Association | 2 | – | 24 | ||
| AZGP1 | alpha-2-glycoprotein 1, zinc-binding | 7 | Rare Single Gene Mutation | 2 | – | 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 | ||
| BAZ2B | bromodomain adjacent to zinc finger domain 2B | 2 | Rare Single Gene Mutation | 1 | 7.35 | 7 | ||
| BBS4 | Bardet-Biedl syndrome 4 | 15 | Rare Single Gene Mutation, Syndromic | 2 | – | 5 | ||
| BCAS1 | breast carcinoma amplified sequence 1 | 20 | Rare Single Gene Mutation | 2 | – | 5 | ||
| BCKDK | Branched chain ketoacid dehydrogenase kinase | 16 | Rare Single Gene Mutation | 1 | 3.1 | 7 | ||
| BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 9.15 | 24 | |
| BCORL1 | BCL6 corepressor like 1 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 8 | |
| BICRA | BRD4 interacting chromatin remodeling complex associated protein | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 2 | |
| BIRC6 | Baculoviral IAP repeat containing 6 | 2 | Rare Single Gene Mutation | 2 | – | 12 | ||
| BRAF | v-raf murine sarcoma viral oncogene homolog B | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 16 | |
| BRCA2 | breast cancer 2, early onset | 13 | Rare Single Gene Mutation | 2 | – | 6 | ||
| BRD4 | bromodomain containing 4 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 9 | ||
| BRINP3 | BMP/retinoic acid inducible neural specific 3 | 1 | Rare Single Gene Mutation, Functional | 3 | – | 3 | ||
| BRSK2 | BR serine/threonine kinase 2 | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 7.7 | 8 | |
| BRWD3 | bromodomain and WD repeat domain containing 3 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 9 | |
| BST1 | bone marrow stromal cell antigen 1 | 4 | Genetic Association, Functional | 2 | – | 5 | ||
| BTAF1 | RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) | 10 | Rare Single Gene Mutation | 2 | – | 8 | ||
| BTRC | beta-transducin repeat containing E3 ubiquitin protein ligase | 10 | Rare Single Gene Mutation | 2 | – | 4 | ||
| C12orf57 | Chromosome 12 open reading frame 57 | 12 | Rare Single Gene Mutation, Syndromic | – | S | – | 12 | |
| C15orf62 | chromosome 15 open reading frame 62 | 15 | Rare Single Gene Mutation | 2 | – | 2 | ||
| C4B | complement component 4B | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 6 | ||
| CA6 | carbonic anhydrase VI | 1 | Rare Single Gene Mutation | 2 | – | 7 | ||
| CACNA1A | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 19 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | – | 29 | |
| CACNA1B | calcium voltage-gated channel subunit alpha1 B | 9 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 13 | ||
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | – | 58 | |
| AVPR1B | arginine vasopressin receptor 1B | 1 | Genetic Association, Functional | 2 | – | 8 | ||
| BICDL1 | BICD family like cargo adaptor 1 | 12 | Genetic Association | 2 | – | 2 | ||
| CACNA1D | calcium channel, voltage-dependent, L type, alpha 1D | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 26 | ||
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | 1 | Rare Single Gene Mutation | 1 | – | 19 | ||
| CACNA1F | calcium channel, voltage-dependent, alpha 1F | X | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| CACNA1G | calcium channel, voltage-dependent, T type, alpha 1G subunit | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 24 | ||
| CACNA1H | calcium channel, voltage-dependent, alpha 1H subunit | 16 | Rare Single Gene Mutation | 2 | – | 32 | ||
| CACNA1I | Calcium channel, voltage-dependent, T type, alpha 1I subunit | 22 | Rare Single Gene Mutation, Genetic Association | 2 | – | 10 | ||
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | 7 | Rare Single Gene Mutation, Syndromic | 2 | – | 8 | ||
| CACNA2D3 | Calcium channel, voltage-dependent, alpha 2/delta subunit 3 | 3 | Rare Single Gene Mutation, Functional | 1 | 3.75 | 11 | ||
| CACNB1 | calcium voltage-gated channel auxiliary subunit beta 1 | 17 | Rare Single Gene Mutation | 3 | – | 3 | ||
| CACNB2 | Calcium channel, voltage-dependent, beta 2 subunit | 10 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 11 | ||
| 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 | – | 6 | ||
| CADPS | calcium dependent secretion activator | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| CADPS2 | Ca2+-dependent activator protein for secretion 2 | 7 | Rare Single Gene Mutation, Functional | 2 | – | 12 | ||
| CAMK2A | calcium/calmodulin dependent protein kinase II alpha | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | – | 11 | |
| CAMK2B | calcium/calmodulin dependent protein kinase II beta | 7 | Rare Single Gene Mutation, Syndromic | – | S | – | 9 | |
| CAMK4 | calcium/calmodulin dependent protein kinase IV | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| CAPN12 | Calpain 12 | 19 | Rare Single Gene Mutation | 2 | – | 6 | ||
| CAPRIN1 | Cell cycle associated protein 1 | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 5.5 | 6 | ||
| CARD11 | caspase recruitment domain family member 11 | 7 | Rare Single Gene Mutation | 2 | – | 2 | ||
| CASK | calcium/calmodulin dependent serine protein kinase | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 22 | ||
| CASKIN1 | CASK interacting protein 1 | 16 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| CASZ1 | castor zinc finger 1 | 1 | Rare Single Gene Mutation | 1 | 9.55 | 6 | ||
| CAT | catalase | 11 | Rare Single Gene Mutation, Functional | 3 | – | 4 | ||
| CC2D1A | Coiled-coil and C2 domain containing 1A | 19 | Rare Single Gene Mutation, Functional | 2 | – | 15 | ||
| CCDC88C | Coiled-coil domain containing 88C | 14 | Rare Single Gene Mutation | 2 | – | 8 | ||
| CCDC91 | coiled-coil domain containing 91 | 12 | Rare Single Gene Mutation | 2 | – | 5 | ||
| CCIN | calicin | 9 | Rare Single Gene Mutation | 2 | – | 2 | ||
| CCNG1 | cyclin G1 | 5 | Rare Single Gene Mutation | 2 | – | 1 | ||
| CCNK | cyclin K | 14 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| 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 | – | 3 | ||
| CD276 | CD276molecule | 15 | Rare Single Gene Mutation | 2 | – | 3 | ||
| CD38 | CD38 molecule | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 10 | ||
| CD99L2 | CD99 molecule like 2 | X | Genetic Association | 2 | – | 1 | ||
| CDC42BPB | CDC42 binding protein kinase beta (DMPK-like) | 14 | Rare Single Gene Mutation, Syndromic | 2 | – | 11 | ||
| 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 | – | 8 | ||
| CDH13 | cadherin 13 | 16 | Rare Single Gene Mutation | 2 | – | 6 | ||
| CDH22 | cadherin-like 22 | 20 | Genetic Association | 2 | – | 4 | ||
| CAMTA2 | calmodulin binding transcription activator 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | – | 3 | ||
| CDH8 | cadherin 8, type 2 | 16 | Rare Single Gene Mutation | 2 | – | 11 | ||
| CDH9 | cadherin 9, type 2 (T1-cadherin) | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| CDK13 | cyclin dependent kinase 13 | 7 | Rare Single Gene Mutation, Syndromic | – | S | – | 16 | |
| CDK16 | cyclin dependent kinase 16 | X | Rare Single Gene Mutation | 2 | – | 3 | ||
| 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 | – | 13 | ||
| CDK8 | cyclin dependent kinase 8 | 13 | Rare Single Gene Mutation, Syndromic | – | S | – | 4 | |
| CDKL5 | cyclin-dependent kinase-like 5 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 49 | |
| CDON | cell adhesion associated, oncogene regulated | 11 | Rare Single Gene Mutation | 3 | – | 3 | ||
| CECR2 | CECR2, histone acetyl-lysine reader | 22 | Rare Single Gene Mutation | 2 | – | 3 | ||
| CELF2 | CUGBP Elav-like family member 2 | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 4 | |
| CELF4 | CUGBP, Elav-like family member 4 | 18 | Rare Single Gene Mutation, Functional | 1 | 8.5 | 14 | ||
| 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 | – | 6 | ||
| CEP290 | Centrosomal protein 290kDa | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 11 | |
| CEP41 | testis specific, 14 | 7 | Rare Single Gene Mutation, Syndromic | 2 | – | 6 | ||
| CGNL1 | Cingulin-like 1 | 15 | Rare Single Gene Mutation | 2 | – | 6 | ||
| CHAMP1 | chromosome alignment maintaining phosphoprotein 1 | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 13 | |
| CHD1 | chromodomain helicase DNA binding protein 1 | 5 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 7 | |
| CHD2 | Chromodomain helicase DNA binding protein 2 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 25 | 69 | |
| CHD3 | chromodomain helicase DNA binding protein 3 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 12 | |
| CHD7 | chromodomain helicase DNA binding protein 7 | 8 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 8.1 | 37 | |
| CHD8 | chromodomain helicase DNA binding protein 8 | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 97.65 | 84 | |
| CHD9 | chromodomain helicase DNA binding protein 9 | 16 | Rare Single Gene Mutation | 3 | – | 6 | ||
| CHKB | Choline kinase beta | 22 | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| CHM | CHMRab escort protein | X | Rare Single Gene Mutation | 3 | – | 7 | ||
| CHMP1A | charged multivesicular body protein 1A | 16 | Rare Single Gene Mutation, Syndromic | 2 | – | 5 | ||
| CHRM3 | cholinergic receptor muscarinic 3 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| CHRNA7 | cholinergic receptor, nicotinic, alpha 7 | 15 | Rare Single Gene Mutation | 2 | – | 16 | ||
| CHRNB3 | cholinergic receptor nicotinic beta 3 subunit | 8 | Rare Single Gene Mutation | 2 | – | 3 | ||
| CHST2 | carbohydrate sulfotransferase 2 | 3 | Rare Single Gene Mutation | 3 | – | 3 | ||
| CIB2 | Calcium and integrin binding family member 2 | 15 | Rare Single Gene Mutation | 2 | – | 2 | ||
| CIC | capicua transcriptional repressor | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 18.7 | 10 | ||
| CLASP1 | cytoplasmic linker associated protein 1 | 2 | Rare Single Gene Mutation | 2 | – | 4 | ||
| CLCN4 | chloride voltage-gated channel 4 | X | Rare Single Gene Mutation, Syndromic | 2 | S | – | 10 | |
| CLN8 | Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) | 8 | Rare Single Gene Mutation, Syndromic | 2 | – | 5 | ||
| CLTCL1 | clathrin, heavy chain-like 1 | 22 | Rare Single Gene Mutation | 2 | – | 7 | ||
| CMIP | c-Maf inducing protein | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| 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 | – | 5 | ||
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 12 | |
| CNOT1 | CCR4-NOT transcription complex subunit 1 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 8 | |
| CNOT3 | CCR4-NOT transcription complex subunit 3 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 5.6 | 15 | |
| CNR1 | cannabinoid receptor 1 (brain) | 6 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| CNTN3 | contactin 3 | 3 | Rare Single Gene Mutation | 2 | – | 6 | ||
| CNTN4 | contactin 4 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 26 | ||
| CNTN5 | Contactin 5 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | – | 11 | ||
| CNTN6 | Contactin 6 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 16 | ||
| CNTNAP2 | contactin associated protein-like 2 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | S | – | 84 | |
| CNTNAP3 | contactin associated protein-like 3 | 9 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| CNTNAP4 | Contactin associated protein-like 4 | 16 | Rare Single Gene Mutation, Functional | 2 | – | 14 | ||
| CNTNAP5 | contactin associated protein-like 5 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 14 | ||
| COL28A1 | collagen type XXVIII alpha 1 chain | 7 | Rare Single Gene Mutation | 2 | – | 4 | ||
| CORO1A | coronin 1A | 16 | Rare Single Gene Mutation | 1 | 0.7 | 3 | ||
| CPT2 | carnitine palmitoyltransferase 2 | 1 | Rare Single Gene Mutation | 2 | – | 3 | ||
| CPZ | carboxypeptidase Z | 4 | Rare Single Gene Mutation | 2 | – | 4 | ||
| CREBBP | CREB binding protein | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 31.35 | 35 | |
| CLIP2 | CAP-Gly domain containing linker protein 2 | 7 | Genetic Association | 3 | – | 1 | ||
| CPEB4 | cytoplasmic polyadenylation element binding protein 4 | 5 | Functional | 2 | – | 1 | ||
| CPSF7 | cleavage and polyadenylation specific factor 7 | 11 | Rare Single Gene Mutation | 1 | – | 7 | ||
| CSDE1 | cold shock domain containing E1 | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 15.55 | 5 | |
| CSMD1 | CUB and Sushi multiple domains 1 | 8 | Rare Single Gene Mutation, Genetic Association | 2 | – | 16 | ||
| CSMD3 | CUB and Sushi multiple domains 3 | 8 | Rare Single Gene Mutation, Functional | 3 | – | 9 | ||
| CSNK1E | casein kinase 1 epsilon | 22 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| 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 | 6.2 | 15 | |
| CSNK2B | casein kinase 2 beta | 6 | Rare Single Gene Mutation, Syndromic | – | S | – | 11 | |
| CTCF | CCCTC-binding factor | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10.45 | 22 | |
| CTNNA2 | catenin alpha 2 | 2 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| CTNNA3 | catenin (cadherin-associated protein), alpha 3 | 10 | Rare Single Gene Mutation, Genetic Association | 2 | – | 17 | ||
| CTNNB1 | catenin beta 1 | 3 | Rare Single Gene Mutation, Syndromic | 1 | 32.75 | 31 | ||
| CTNND2 | Catenin (cadherin-associated protein), delta 2 | 5 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 11 | ||
| CTR9 | CTR9homolog, Paf1/RNA polymerase II complex component | 11 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 9 | |
| CTTNBP2 | cortactin binding protein 2 | 7 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 14 | ||
| CUL3 | Cullin 3 | 2 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 18.4 | 27 | ||
| CUL7 | Cullin 7 | 6 | Rare Single Gene Mutation | 2 | – | 8 | ||
| CUX1 | cut like homeobox 1 | 7 | Rare Single Gene Mutation, Functional | 2 | – | 11 | ||
| CUX2 | cut like homeobox 2 | 12 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 12 | |
| CX3CR1 | Chemokine (C-X3-C motif) receptor 1 | 3 | Rare Single Gene Mutation, Functional | 2 | – | 3 | ||
| CYFIP1 | cytoplasmic FMR1 interacting protein 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 19 | ||
| CYLC2 | cylicin, basic protein of sperm head cytoskeleton 2 | 9 | Rare Single Gene Mutation | 2 | – | 3 | ||
| CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | 2 | Rare Single Gene Mutation, Syndromic | – | S | – | 6 | |
| DAGLA | diacylglycerol lipase alpha | 11 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| DAPP1 | Dual adaptor of phosphotyrosine and 3-phosphoinositides | 4 | Rare Single Gene Mutation | 2 | – | 3 | ||
| DDC | dopa decarboxylase | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| DDHD2 | DDHD domain containing 2 | 8 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 5 | ||
| DDX23 | DEAD-box helicase 23 | 12 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 42 | |
| DDX53 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 | X | Rare Single Gene Mutation | 2 | 5.25 | 4 | ||
| DEAF1 | DEAF1 transcription factor | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 30.9 | 25 | |
| DENR | density-regulated protein | 12 | Rare Single Gene Mutation, Functional | 2 | – | 4 | ||
| DEPDC5 | DEP domain containing 5 | 22 | Rare Single Gene Mutation, Syndromic | – | S | – | 18 | |
| DHCR7 | 7-dehydrocholesterol reductase | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 19 | |
| DHX30 | DExH-box helicase 30 | 3 | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila) | 21 | Rare Single Gene Mutation, Functional | 1 | – | 12 | ||
| DIP2C | disco interacting protein 2 homolog C | 10 | Rare Single Gene Mutation | 2 | – | 5 | ||
| 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 | 2 | – | 35 | ||
| DIXDC1 | DIX domain containing 1 | 11 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| 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 | – | 11 | ||
| DLG4 | discs large MAGUK scaffold protein 4 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 2.45 | 18 | ||
| DLGAP1 | DLG associated protein 1 | 18 | Rare Single Gene Mutation, Functional | 2 | – | 12 | ||
| DLGAP2 | discs, large (Drosophila) homolog-associated protein 2 | 8 | Rare Single Gene Mutation | 2 | 2.8 | 17 | ||
| DLGAP3 | DLG associated protein 3 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 11 | ||
| DLL1 | delta like canonical Notch ligand 1 | 6 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 4 | |
| DLX3 | distal-less homeobox 3 | 17 | Rare Single Gene Mutation | 2 | – | 4 | ||
| DLX6 | distal-less homeobox 6 | 7 | Rare Single Gene Mutation | 2 | – | 10 | ||
| DMD | dystrophin (muscular dystrophy, Duchenne and Becker types) | X | Rare Single Gene Mutation, Syndromic, Genetic Association | – | S | – | 41 | |
| DMPK | dystrophia myotonica-protein kinase | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 3.75 | 11 | |
| DMWD | DM1 locus, WD repeat containing | 19 | Rare Single Gene Mutation | 2 | – | 3 | ||
| DMXL2 | Dmx-like 2 | 15 | Rare Single Gene Mutation | 2 | – | 8 | ||
| DNAH10 | Dynein, axonemal, heavy chain 10 | 12 | Rare Single Gene Mutation | 2 | – | 9 | ||
| DNAH17 | dynein axonemal heavy chain 17 | 17 | Rare Single Gene Mutation | 2 | – | 8 | ||
| DNAH3 | dynein axonemal heavy chain 3 | 16 | Rare Single Gene Mutation | 2 | – | 7 | ||
| DNER | Delta/notch-like EGF repeat containing | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 15.9 | 26 | |
| DOCK1 | Dedicator of cytokinesis 1 | 10 | Rare Single Gene Mutation | 2 | – | 3 | ||
| DOCK4 | Dedicator of cytokinesis 4 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 11 | ||
| DOCK8 | dedicator of cytokinesis 8 | 9 | Rare Single Gene Mutation | 2 | – | 12 | ||
| DOLK | dolichol kinase | 9 | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| DPP10 | Dipeptidyl-peptidase 10 | 2 | Rare Single Gene Mutation | 2 | – | 12 | ||
| 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 | – | 27 | ||
| DPYD | dihydropyrimidine dehydrogenase | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 14 | ||
| DPYSL2 | dihydropyrimidinase like 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 1 | 16 | ||
| DPYSL3 | dihydropyrimidinase like 3 | 5 | Rare Single Gene Mutation | 2 | – | 3 | ||
| DRD2 | Dopamine receptor D2 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| DRD3 | dopamine receptor D3 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| DSCAM | Down syndrome cell adhesion molecule | 21 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 13.5 | 16 | ||
| DST | Dystonin | 6 | Rare Single Gene Mutation | 2 | – | 10 | ||
| DUSP15 | dual specificity phosphatase 15 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| DVL3 | Dishevelled segment polarity protein 3 | 3 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| DYDC1 | DPY30 domain containing 1 | 10 | Rare Single Gene Mutation | 2 | – | 2 | ||
| DYDC2 | DPY30 domain containing 2 | 10 | 2 | – | 1 | |||
| CYP11B1 | cytochrome P450, family 11, subfamily B, polypeptide 1 | 8 | Syndromic | 2 | – | 4 | ||
| DCC | DCCnetrin 1 receptor | 18 | Genetic Association | 2 | – | 3 | ||
| DLX2 | distal-less homeobox 2 | 2 | Genetic Association | 2 | – | 11 | ||
| DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 13.45 | 27 | ||
| DYRK1A | Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 20.2 | 66 | |
| DRD1 | Dopamine receptor D1 | 5 | Genetic Association, Functional | 2 | – | 4 | ||
| EBF3 | early B-cell factor 3 | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 9.75 | 18 | |
| ECPAS | Ecm29 proteasome adaptor and scaffold | 9 | Rare Single Gene Mutation, Functional | 2 | – | 4 | ||
| EEF1A2 | Eukaryotic translation elongation factor 1 alpha 2 | 20 | Rare Single Gene Mutation, Syndromic | – | S | – | 17 | |
| EFR3A | EFR3 homolog A (S. cerevisiae) | 8 | Rare Single Gene Mutation | 2 | – | 7 | ||
| EGR3 | early growth response 3 | 8 | Rare Single Gene Mutation | 2 | – | 3 | ||
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 13.5 | 35 | |
| EIF3G | eukaryotic translation initiation factor 3 subunit G | 19 | Rare Single Gene Mutation | 1 | 1.5 | 5 | ||
| EIF4E | eukaryotic translation initiation factor 4E | 4 | Rare Single Gene Mutation, Genetic Association | 2 | 3.6 | 13 | ||
| EIF4G1 | eukaryotic translation initiation factor 4 gamma 1 | 3 | Rare Single Gene Mutation, Functional | 3 | – | 4 | ||
| ELAVL2 | ELAV like neuron-specific RNA binding protein 2 | 9 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 7 | ||
| ELAVL3 | ELAV like neuron-specific RNA binding protein 3 | 19 | Rare Single Gene Mutation | 1 | 1 | 6 | ||
| ELOVL2 | ELOVL fatty acid elongase 2 | 6 | Genetic Association | 2 | – | 1 | ||
| ELP2 | elongator acetyltransferase complex subunit 2 | 18 | Syndromic | 2 | S | – | 6 | |
| 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 | – | 5 | ||
| EN2 | engrailed homolog 2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 25 | ||
| ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | 6 | Rare Single Gene Mutation | 3 | – | 5 | ||
| EP300 | E1A binding protein p300 | 22 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 21 | |
| EP400 | E1A binding protein p400 | 12 | Rare Single Gene Mutation | 2 | – | 8 | ||
| EPC2 | Enhancer of polycomb homolog 2 (Drosophila) | 2 | Rare Single Gene Mutation | 2 | – | 6 | ||
| EPHA1 | EPH receptor A1 | 7 | Rare Single Gene Mutation | 2 | – | 7 | ||
| EPHB1 | EPH receptor B1 | 3 | Rare Single Gene Mutation | 3 | – | 10 | ||
| EPHB2 | EPH receptor B2 | 1 | Rare Single Gene Mutation | 2 | – | 8 | ||
| EPPK1 | epiplakin 1 | 8 | Rare Single Gene Mutation | 2 | – | 7 | ||
| ERBIN | erbb2 interacting protein | 5 | Rare Single Gene Mutation | 2 | – | 8 | ||
| ERMN | ermin | 2 | Rare Single Gene Mutation | 2 | – | 1 | ||
| ESR2 | estrogen receptor 2 (ER beta) | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 9 | ||
| 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 | – | 5 | ||
| 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 | – | 7 | ||
| FABP4 | fatty acid binding protein 4 | 8 | Rare Single Gene Mutation | 3 | – | 3 | ||
| 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 | – | 1 | ||
| FAM98C | family with sequence similarity 98 member C | 19 | Rare Single Gene Mutation | 2 | – | 2 | ||
| FAN1 | FANCD2/FANCI-associated nuclease 1 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 3 | ||
| FAT1 | FAT atypical cadherin 1 | 4 | Rare Single Gene Mutation, Functional | 2 | – | 11 | ||
| FBN1 | Fibrillin 1 | 15 | Rare Single Gene Mutation | 2 | – | 13 | ||
| FBRSL1 | fibrosin like 1 | 12 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| FBXO11 | F-box protein 11 | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 10 | |
| FBXO33 | F-box protein 33 | 14 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| FBXO40 | F-box protein 40 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| FCRL6 | Fc receptor like 6 | 1 | Rare Single Gene Mutation | 2 | – | 4 | ||
| FEZF2 | FEZ family zinc finger 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| FGA | Fibrinogen alpha chain | 4 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| FGF13 | fibroblast growth factor 13 | X | Syndromic | 3 | S | – | 2 | |
| FGF14 | fibroblast growth factor 14 | 13 | Rare Single Gene Mutation | 3 | – | 2 | ||
| FHIT | fragile histidine triad gene | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 12 | ||
| FMR1 | fragile X mental retardation 1 | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | – | 52 | |
| FOXG1 | Forkhead box G1 | 14 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 5.7 | 51 | |
| FOXP1 | forkhead box P1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 60.45 | 64 | |
| FOXP2 | forkhead box P2 | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | – | 52 | ||
| FRG1 | FSHD region gene 1 | 4 | Rare Single Gene Mutation | 2 | – | 2 | ||
| FRK | fyn-related kinase | 6 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| FRMPD4 | FERM and PDZ domain containing 4 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 8 | |
| FXN | frataxin | 9 | Rare Single Gene Mutation | 3 | – | 2 | ||
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 14 | |
| GABRA3 | Gamma-aminobutyric acid (GABA) A receptor, alpha 3 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| GABRA4 | gamma-aminobutyric acid (GABA) A receptor, alpha 4 | 4 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 9 | ||
| GABRB2 | gamma-aminobutyric acid type A receptor subunit beta2 | 5 | Rare Single Gene Mutation | 1 | 0.3 | 4 | ||
| GABRB3 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | 15 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | – | 46 | ||
| GABRG3 | gamma-aminobutyric acid type A receptor gamma3 subunit | 15 | Rare Single Gene Mutation, Genetic Association | 2 | – | 11 | ||
| 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 | – | 4 | ||
| GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| GALNT2 | polypeptide N-acetylgalactosaminyltransferase 2 | 1 | Rare Single Gene Mutation, Syndromic | – | S | – | 4 | |
| GALNT8 | polypeptide N-acetylgalactosaminyltransferase 8 | 12 | Rare Single Gene Mutation | 2 | – | 2 | ||
| GATM | Glycine amidinotransferase (L-arginine:glycine amidinotransferase) | 15 | Syndromic | – | S | – | 2 | |
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | 3 | Rare Single Gene Mutation | 2 | – | 4 | ||
| GDA | guanine deaminase | 9 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| GFAP | glial fibrillary acidic protein | 17 | Rare Single Gene Mutation | 1 | 0.3 | 1 | ||
| GGNBP2 | gametogenetin binding protein 2 | 17 | Rare Single Gene Mutation | 2 | – | 3 | ||
| GIGYF1 | GRB10 interacting GYF protein 1 | 7 | Rare Single Gene Mutation | 1 | 17.25 | 15 | ||
| GIGYF2 | GRB10 interacting GYF protein 2 | 2 | Rare Single Gene Mutation | 1 | – | 9 | ||
| 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 | – | 17 | ||
| GNAI1 | G protein subunit alpha i1 | 7 | Rare Single Gene Mutation, Syndromic | 1 | S | 2.1 | 4 | |
| GNAS | GNAS complex locus | 20 | Rare Single Gene Mutation | 2 | – | 9 | ||
| GNB1L | guanine nucleotide binding protein (G protein), beta polypeptide 1-like | 22 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| GNB2 | G protein subunit beta 2 | 7 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| GPC4 | glypican 4 | X | Rare Single Gene Mutation | 2 | – | 2 | ||
| GPC5 | glypican 5 | 13 | Rare Single Gene Mutation | 3 | – | 8 | ||
| 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 | – | 4 | ||
| GPHN | Gephyrin | 14 | Rare Single Gene Mutation | 2 | – | 10 | ||
| 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 | – | 5 | ||
| GRB10 | growth factor receptor bound protein 10 | 7 | Rare Single Gene Mutation, Functional | 3 | – | 11 | ||
| GRIA1 | glutamate ionotropic receptor AMPA type subunit 1 | 5 | Rare Single Gene Mutation, Syndromic | 2 | – | 11 | ||
| GRIA2 | glutamate ionotropic receptor AMPA type subunit 2 | 4 | Rare Single Gene Mutation | 1 | 12 | 11 | ||
| GRIA3 | glutamate ionotropic receptor AMPA type subunit 3 | X | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 13 | |
| 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 | – | 11 | ||
| 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 | – | 22 | ||
| GRIK3 | glutamate ionotropic receptor kainate type subunit 3 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| GRIK4 | Glutamate receptor, ionotropic, kainate 4 | 11 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| GRIK5 | Glutamate receptor, ionotropic, kainate 5 | 19 | Rare Single Gene Mutation | 2 | – | 10 | ||
| GRIN1 | Glutamate receptor, ionotropic, N-methyl D-aspartate 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 24 | ||
| ERG | ERG, ETS transcription factor | 21 | Genetic Association | 2 | – | 1 | ||
| FGFR1 | fibroblast growth factor receptor 1 | 8 | Genetic Association | 2 | – | 1 | ||
| G3BP2 | G3BP stress granule assembly factor 2 | 4 | Rare Single Gene Mutation | 2 | – | 6 | ||
| GAS2 | Growth arrest-specific 2 | 11 | Genetic Association | 2 | – | 1 | ||
| GPX1 | glutathione peroxidase 1 | 3 | Genetic Association | 2 | – | 5 | ||
| GRIN2A | glutamate receptor, ionotropic, N-methyl D-aspartate 2A | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 3.6 | 55 | ||
| GRIN2B | glutamate receptor, inotropic, N-methyl D-apartate 2B | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 29.65 | 73 | ||
| GRIP1 | glutamate receptor interacting protein 1 | 12 | Rare Single Gene Mutation | 2 | – | 14 | ||
| 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 | – | 10 | ||
| GRM7 | Glutamate receptor, metabotropic 7 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 17 | ||
| GTF2I | general transcription factor IIi | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| GUCY1A2 | guanylate cyclase 1 soluble subunit alpha 2 | 11 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| H1-4 | H1.4 linker histone, cluster member | 6 | Rare Single Gene Mutation, Syndromic | – | S | – | 9 | |
| H2BC11 | H2B clustered histone 11 | 6 | Rare Single Gene Mutation | 2 | – | 3 | ||
| H4C11 | H4 clustered histone 11 | 6 | Rare Single Gene Mutation, Syndromic | – | S | – | 4 | |
| H4C3 | H4 clustered histone 3 | 6 | Syndromic | – | S | – | 2 | |
| H4C5 | H4 clustered histone 5 | 6 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 6 | Rare Single Gene Mutation, Syndromic | 3 | – | 8 | ||
| HCFC1 | host cell factor C1 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 11 | |
| HCN1 | Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 | 5 | Rare Single Gene Mutation, Genetic Association | 3 | – | 12 | ||
| HDAC4 | histone deacetylase 4 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | – | 17 | |
| HDAC8 | histone deacetylase 8 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 9 | |
| HDLBP | high density lipoprotein binding protein | 2 | Rare Single Gene Mutation | 1 | 1.25 | 6 | ||
| HECTD4 | HECT domain E3 ubiquitin protein ligase 4 | 12 | Rare Single Gene Mutation, Syndromic | 1 | – | 10 | ||
| HECW2 | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | 2 | Rare Single Gene Mutation, Syndromic | 2 | – | 16 | ||
| HEPACAM | hepatic and glial cell adhesion molecule | 11 | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 11 | |
| HERC1 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 12 | |
| HERC2 | HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 15 | Rare Single Gene Mutation, Syndromic | – | S | – | 9 | |
| HIVEP2 | HIVEP zinc finger 2 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 12 | |
| HIVEP3 | human immunodeficiency virus type I enhancer binding protein 3 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| HLA-DPB1 | major histocompatibility complex, class II, DP beta 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | – | 2 | ||
| 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 | – | 4 | ||
| HNRNPH2 | heterogeneous nuclear ribonucleoprotein H2 | X | Rare Single Gene Mutation, Syndromic | 1 | – | 17 | ||
| HNRNPK | heterogeneous nuclear ribonucleoprotein K | 9 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 11 | |
| HNRNPR | heterogeneous nuclear ribonucleoprotein R | 1 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 6 | |
| HNRNPU | heterogeneous nuclear ribonucleoprotein U | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 33 | |
| 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 | ||
| HOXA1 | homeobox A1 | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | – | S | – | 16 | |
| GSTM1 | glutathione S-transferase M1 | 1 | Genetic Association | 2 | – | 3 | ||
| HLA-A | major histocompatibility complex, class I, A | 6 | Genetic Association | 2 | – | 10 | ||
| HLA-B | Major histocompatibility complex, class I, B | 6 | Genetic Association | 2 | – | 5 | ||
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | 6 | Genetic Association | 2 | – | 11 | ||
| HLA-G | major histocompatibility complex, class I, G | 6 | Genetic Association | 2 | – | 4 | ||
| HMGN1 | high mobility group nucleosome binding domain 1 | 21 | Genetic Association | 2 | – | 1 | ||
| HRAS | v-Ha-ras Harvey rat sarcoma viral oncogene homolog | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | – | 12 | ||
| HS3ST5 | heparan sulfate (glucosamine) 3-O-sulfotransferase 5 | 6 | Genetic Association | 2 | – | 7 | ||
| 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 | – | 8 | ||
| HTR3C | 5-hydroxytryptamine (serotonin) receptor 3, family member C | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| HUWE1 | HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase | X | Rare Single Gene Mutation, Syndromic | – | S | – | 25 | |
| HYDIN | HYDIN, axonemal central pair apparatus protein | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| ICA1 | islet cell autoantigen 1 | 7 | Rare Single Gene Mutation | 2 | – | 10 | ||
| 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 | – | 6 | ||
| IL1R2 | interleukin 1 receptor, type II | 2 | Rare Single Gene Mutation | 2 | – | 7 | ||
| IL1RAPL1 | interleukin 1 receptor accessory protein-like 1 | X | Rare Single Gene Mutation | 2 | – | 25 | ||
| IL1RAPL2 | interleukin 1 receptor accessory protein-like 2 | X | Rare Single Gene Mutation, Genetic Association | 2 | – | 2 | ||
| 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 | – | 16 | ||
| INPP1 | inositol polyphosphate-1-phosphatase | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| INTS1 | integrator complex subunit 1 | 7 | Rare Single Gene Mutation, Syndromic | – | S | – | 6 | |
| INTS6 | Integrator complex subunit 6 | 13 | Rare Single Gene Mutation | 2 | – | 5 | ||
| IQGAP3 | IQ motif containing GTPase activating protein 3 | 1 | Rare Single Gene Mutation | 2 | – | 5 | ||
| IQSEC2 | IQ motif and Sec7 domain 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 47 | |
| IRF2BPL | Interferon regulatory factor 2 binding protein-like | 14 | Rare Single Gene Mutation, Syndromic | 1 | S | 9 | 11 | |
| ITGA8 | integrin subunit alpha 8 | 10 | Rare Single Gene Mutation | 3 | – | 6 | ||
| ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 17 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 20 | ||
| ITPR1 | inositol 1,4,5-trisphosphate receptor type 1 | 3 | Rare Single Gene Mutation | 2 | – | 14 | ||
| ITSN1 | intersectin 1 | 21 | Rare Single Gene Mutation, Syndromic | 2 | – | 7 | ||
| JARID2 | jumonji and AT-rich interaction domain containing 2 | 6 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 17 | ||
| JMJD1C | jumonji domain containing 1C | 10 | Rare Single Gene Mutation | 2 | – | 10 | ||
| KANK1 | KN motif and ankyrin repeat domains 1 | 9 | Rare Single Gene Mutation | 2 | – | 12 | ||
| KANSL1 | KAT8 regulatory NSL complex subunit 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 1.1 | 10 | |
| 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 | – | 25 | |
| KAT6B | lysine acetyltransferase 6B | 10 | Rare Single Gene Mutation, Syndromic | 3 | – | 7 | ||
| KATNAL1 | katanin catalytic subunit A1 like 1 | 13 | Rare Single Gene Mutation, Functional | 2 | – | 3 | ||
| KATNAL2 | Katanin p60 subunit A-like 2 | 18 | Rare Single Gene Mutation, Functional | 1 | 4.1 | 14 | ||
| KCNA2 | potassium voltage-gated channel subfamily A member 2 | 1 | Rare Single Gene Mutation | 3 | – | 8 | ||
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | 20 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 20 | |
| KCNC1 | potassium voltage-gated channel subfamily C member 1 | 11 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| KCNC2 | potassium voltage-gated channel subfamily C member 2 | 12 | Rare Single Gene Mutation | 3 | – | 10 | ||
| KCND2 | potassium voltage-gated channel subfamily D member 2 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| KCND3 | potassium voltage-gated channel subfamily D member 3 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 13 | ||
| KCNJ10 | potassium voltage-gated channel subfamily J member 10 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 12 | ||
| 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 | – | 2 | ||
| KCNMA1 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | 10 | Rare Single Gene Mutation, Syndromic | 2 | – | 29 | ||
| KCNQ2 | potassium voltage-gated channel subfamily Q member 2 | 20 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 43 | ||
| KCNQ3 | potassium voltage-gated channel subfamily Q member 3 | 8 | Rare Single Gene Mutation, Genetic Association | 1 | 11.1 | 19 | ||
| KCNS3 | potassium voltage-gated channel modifier subfamily S member 3 | 2 | Rare Single Gene Mutation | 2 | – | 5 | ||
| KCTD13 | Potassium channel tetramerisation domain containing 13 | 16 | Rare Single Gene Mutation, Functional | 2 | – | 8 | ||
| KDM1B | lysine demethylase 1B | 6 | Rare Single Gene Mutation | 2 | – | 3 | ||
| KDM2A | lysine demethylase 2A | 11 | Rare Single Gene Mutation | 3 | – | 8 | ||
| KDM3B | lysine demethylase 3B | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | 1.5 | 3 | |
| KDM4B | lysine demethylase 4B | 19 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 6 | ||
| KDM4C | lysine demethylase 4C | 9 | Rare Single Gene Mutation | 2 | – | 4 | ||
| KDM5A | lysine demethylase 5A | 12 | Rare Single Gene Mutation | 2 | – | 3 | ||
| KDM5B | Lysine (K)-specific demethylase 5B | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 2.8 | 19 | ||
| KDM5C | lysine demethylase 5C | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 32 | ||
| KDM6A | lysine demethylase 6A | X | Rare Single Gene Mutation, Syndromic | 2 | – | 11 | ||
| KDM6B | Lysine (K)-specific demethylase 6B | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 13.75 | 18 | ||
| KHDRBS2 | KH domain containing, RNA binding, signal transduction associated 2 | 6 | Rare Single Gene Mutation | 2 | – | 4 | ||
| KIAA0232 | KIAA0232 | 4 | Rare Single Gene Mutation | 1 | – | 4 | ||
| KIAA1586 | KIAA1586 | 6 | Rare Single Gene Mutation | 2 | – | 5 | ||
| KIF13B | Kinesin family member 13B | 8 | Rare Single Gene Mutation | 2 | – | 4 | ||
| KIF14 | kinesin family member 14 | 1 | Rare Single Gene Mutation, Syndromic | 2 | – | 6 | ||
| KIF1A | kinesin family member 1A | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 11 | |
| KIF5C | Kinesin family member 5C | 2 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 12 | |
| KIRREL3 | Kin of IRRE like 3 (Drosophila) | 11 | Rare Single Gene Mutation | 2 | – | 18 | ||
| KLF16 | Kruppel like factor 16 | 19 | Rare Single Gene Mutation | 2 | – | 1 | ||
| KLF7 | Kruppel like factor 7 | 2 | Rare Single Gene Mutation, Functional | 3 | – | 13 | ||
| KMT2A | Lysine (K)-specific methyltransferase 2A | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 40 | |
| KDM2B | lysine demethylase 2B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 9 | ||
| KIZ | kizuna centrosomal protein | 20 | Genetic Association, Functional | 3 | – | 2 | ||
| KLHL20 | kelch like family member 20 | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 4 | ||
| KMT2C | Lysine (K)-specific methyltransferase 2C | 7 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 28 | |
| KMT2E | Lysine (K)-specific methyltransferase 2E | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | – | 17 | |
| KMT5B | lysine methyltransferase 5B | 11 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 21 | ||
| KNG1 | kininogen 1 | 3 | Rare Single Gene Mutation | 3 | – | 2 | ||
| KPTN | kaptin, actin binding protein | 19 | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| KRR1 | KRR1, small subunit (SSU) processome component, homolog (yeast) | 12 | Rare Single Gene Mutation, Genetic Association | 2 | – | 2 | ||
| KRT26 | keratin 26 | 17 | Rare Single Gene Mutation | 2 | – | 3 | ||
| LAMA1 | Laminin, alpha 1 | 18 | Rare Single Gene Mutation, Genetic Association | 2 | – | 10 | ||
| LAMB1 | laminin, beta 1 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| LAS1L | LAS1 like ribosome biogenesis factor | X | Rare Single Gene Mutation, Syndromic | 3 | – | 5 | ||
| LDB1 | LIM domain binding 1 | 10 | Rare Single Gene Mutation | 1 | 4 | 2 | ||
| LDLR | low density lipoprotein receptor | 19 | Rare Single Gene Mutation | 3 | – | 2 | ||
| LEMD3 | LEM domain containing 3 | 12 | Rare Single Gene Mutation | 2 | – | 3 | ||
| LEO1 | LEO1 homolog, Paf1/RNA polymerase II complex component | 15 | Rare Single Gene Mutation | 2 | – | 4 | ||
| LEP | Leptin | 7 | Rare Single Gene Mutation | 2 | – | 1 | ||
| LILRB2 | leukocyte immunoglobulin like receptor B2 | 19 | Rare Single Gene Mutation | 2 | – | 3 | ||
| LIN7B | lin-7 homolog B, crumbs cell polarity complex component | 19 | Rare Single Gene Mutation | 2 | – | 3 | ||
| LMTK3 | lemur tyrosine kinase 3 | 19 | Rare Single Gene Mutation, Functional | 3 | – | 5 | ||
| LMX1B | LIM homeobox transcription factor 1 beta | 9 | Genetic Association | 2 | – | 1 | ||
| LNPK | lunapark, ER junction formation factor | 2 | Syndromic | – | S | – | 1 | |
| LRBA | LPS-responsive vesicle trafficking, beach and anchor containing | 4 | Rare Single Gene Mutation | 2 | – | 8 | ||
| LRFN2 | leucine rich repeat and fibronectin type III domain containing 2 | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 5 | ||
| LRFN5 | leucine rich repeat and fibronectin type III domain containing 5 | 14 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 7 | ||
| LRP1 | LDL receptor related protein 1 | 12 | Rare Single Gene Mutation | 2 | – | 7 | ||
| LRP2 | LDL receptor related protein 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 18 | ||
| LRRC1 | leucine rich repeat containing 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| LRRC4 | leucine rich repeat containing 4 | 7 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| LRRC4C | leucine rich repeat containing 4C | 11 | Rare Single Gene Mutation | 1 | 1.25 | 2 | ||
| LZTR1 | Leucine-zipper-like transcription regulator 1 | 22 | Rare Single Gene Mutation, Syndromic | 1 | – | 16 | ||
| LZTS2 | leucine zipper, putative tumor suppressor 2 | 10 | Genetic Association | 2 | – | 4 | ||
| MACROD2 | MACRO domain containing 2 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | – | 22 | ||
| MAGEL2 | MAGE-like 2 | 15 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 22 | |
| MAOA | monoamine oxidase A | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 18 | ||
| MAOB | monoamine oxidase B | X | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 6 | ||
| MAP1A | microtubule associated protein 1A | 15 | Rare Single Gene Mutation | 1 | – | 4 | ||
| MAP4K1 | mitogen-activated protein kinase kinase kinase kinase 1 | 19 | Rare Single Gene Mutation | 3 | – | 5 | ||
| MAP4K4 | mitogen-activated protein kinase kinase kinase kinase 4 | 2 | Rare Single Gene Mutation, Syndromic | 2 | – | 2 | ||
| MAPK3 | mitogen-activated protein kinase 3 | 16 | Rare Single Gene Mutation, Functional | 2 | – | 6 | ||
| MAPK8IP1 | mitogen-activated protein kinase 8 interacting protein 1 | 11 | Rare Single Gene Mutation | 3 | – | 4 | ||
| MAPT | microtubule associated protein tau | 17 | Genetic Association, Functional | 3 | – | 3 | ||
| 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 | – | 11 | ||
| MARK2 | microtubule affinity regulating kinase 2 | 11 | Rare Single Gene Mutation | 2 | – | 4 | ||
| MAST3 | microtubule associated serine/threonine kinase 3 | 19 | Rare Single Gene Mutation, Functional | 3 | – | 7 | ||
| MBD1 | methyl-CpG binding domain protein 1 | 18 | Rare Single Gene Mutation | 2 | – | 8 | ||
| 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 | ||
| MBD5 | Methyl-CpG binding domain protein 5 | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 46.6 | 41 | |
| MBD6 | Methyl-CpG binding domain protein 6 | 12 | Rare Single Gene Mutation | 2 | – | 3 | ||
| MBOAT7 | membrane bound O-acyltransferase domain containing 7 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | 5.25 | 14 | |
| MCM4 | minichromosome maintenance complex component 4 | 8 | Rare Single Gene Mutation | 2 | – | 3 | ||
| MCM6 | minichromosome maintenance complex component 6 | 2 | Rare Single Gene Mutation | 2 | – | 3 | ||
| MCPH1 | microcephalin 1 | 8 | Rare Single Gene Mutation | 2 | – | 18 | ||
| MDGA2 | MAM domain containing glycosylphosphatidylinositol anchor 2 | 14 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| MECP2 | Methyl CpG binding protein 2 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 109 | |
| MED12L | mediator complex subunit 12L | 3 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 5 | |
| MED13 | mediator complex subunit 13 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 9.3 | 8 | |
| MED13L | Mediator complex subunit 13-like | 12 | Rare Single Gene Mutation, Syndromic | 1 | S | 35 | 44 | |
| MED23 | mediator complex subunit 23 | 6 | Rare Single Gene Mutation | 2 | – | 2 | ||
| MEF2C | myocyte enhancer factor 2C | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 9.85 | 46 | |
| 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 | 2 | – | 6 | ||
| MEIS2 | Meis homeobox 2 | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | 7.5 | 12 | |
| MEMO1 | mediator of cell motility 1 | 2 | Rare Single Gene Mutation, Functional | 2 | – | 2 | ||
| MET | met proto-oncogene (hepatocyte growth factor receptor) | 7 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 40 | ||
| METTL26 | methyltransferase like 26 | 16 | Rare Single Gene Mutation | 2 | – | 2 | ||
| MFRP | Membrane frizzled-related protein | 11 | Rare Single Gene Mutation | 2 | – | 7 | ||
| MIB1 | Mindbomb E3 ubiquitin protein ligase 1 | 18 | Rare Single Gene Mutation | 2 | – | 9 | ||
| MINK1 | misshapen like kinase 1 | 17 | Rare Single Gene Mutation | 3 | – | 8 | ||
| MIR137 | microRNA 137 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 10 | ||
| MKX | mohawk homeobox | 10 | Rare Single Gene Mutation | 1 | 0.3 | 3 | ||
| MLANA | melan-A | 9 | Rare Single Gene Mutation | 2 | – | 3 | ||
| MRTFB | myocardin related transcription factor B | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 11 | ||
| MSANTD2 | Myb/SANT DNA binding domain containing 2 | 11 | Rare Single Gene Mutation | 2 | – | 2 | ||
| MSL3 | MSL complex subunit 3 | X | Rare Single Gene Mutation, Syndromic | 1 | S | – | 6 | |
| MSR1 | macrophage scavenger receptor 1 | 8 | Rare Single Gene Mutation | 2 | – | 5 | ||
| MSX2 | msh homeobox 2 | 5 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 2 | |
| 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 | 2 | – | 20 | ||
| MTOR | mechanistic target of rapamycin kinase | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 29 | |
| MUC12 | mucin 12, cell surface associated | 7 | Rare Single Gene Mutation | 2 | – | 3 | ||
| MUC4 | mucin 4, cell surface associated | 3 | Rare Single Gene Mutation | 2 | – | 8 | ||
| MYH10 | myosin heavy chain 10 | 17 | Rare Single Gene Mutation | 2 | – | 6 | ||
| MYH4 | Myosin, heavy chain 4, skeletal muscle | 17 | Rare Single Gene Mutation | 2 | – | 6 | ||
| MYH9 | myosin heavy chain 9 | 22 | Rare Single Gene Mutation | 2 | – | 7 | ||
| MYLK | myosin light chain kinase | 3 | Rare Single Gene Mutation | 3 | – | 3 | ||
| MYO16 | myosin XVI | 13 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| MYO1E | myosin IE | 15 | Rare Single Gene Mutation | 2 | – | 6 | ||
| MYO5A | myosin VA | 15 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| MYO5C | myosin VC | 15 | Rare Single Gene Mutation | 2 | – | 4 | ||
| MYO9B | Myosin IXB | 19 | Rare Single Gene Mutation | 2 | – | 5 | ||
| MYOCD | myocardin | 17 | Rare Single Gene Mutation | 3 | – | 3 | ||
| MYT1L | Myelin transcription factor 1-like | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 20.35 | 33 | ||
| NAA15 | N(alpha)-acetyltransferase 15, NatA auxiliary subunit | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 31.7 | 17 | |
| NAALADL2 | N-acetylated alpha-linked acidic dipeptidase-like 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| NACC1 | nucleus accumbens associated 1 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 9 | |
| NAV2 | neuron navigator 2 | 11 | Rare Single Gene Mutation, Syndromic | 2 | – | 12 | ||
| NAV3 | neuron navigator 3 | 12 | Rare Single Gene Mutation | 2 | – | 2 | ||
| NBEA | neurobeachin | 13 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 22 | |
| NCAPH2 | non-SMC condensin II complex subunit H2 | 22 | Rare Single Gene Mutation | 3 | – | 1 | ||
| NCKAP1 | NCK-associated protein 1 | 2 | Rare Single Gene Mutation, Syndromic | 1 | – | 14 | ||
| NCKAP5 | NCK-associated protein 5 | 2 | Rare Single Gene Mutation | 2 | – | 3 | ||
| MNT | MAX network transcriptional repressor | 17 | Genetic Association | 2 | – | 1 | ||
| MSRA | methionine sulfoxide reductase A | 8 | Genetic Association, Functional | 3 | – | 11 | ||
| MYCBP2 | MYC binding protein 2 | 13 | Rare Single Gene Mutation, Syndromic | 1 | – | 7 | ||
| NCOA1 | nuclear receptor coactivator 1 | 2 | Rare Single Gene Mutation | 1 | 3 | 4 | ||
| NCOR1 | nuclear receptor corepressor 1 | 17 | Rare Single Gene Mutation, Functional | 2 | – | 9 | ||
| NDUFA5 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa | 7 | Genetic Association | 2 | – | 3 | ||
| NEGR1 | neuronal growth regulator 1 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 6 | ||
| NEO1 | Neogenin 1 | 15 | Rare Single Gene Mutation | 2 | – | 2 | ||
| NEXMIF | neurite extension and migration factor | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 32 | ||
| NF1 | neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) | 17 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 9.3 | 33 | |
| MSNP1AS | Moesinpseudogene 1, antisense | 5 | Genetic Association, Functional | 2 | – | 13 | ||
| NFE2L3 | nuclear factor, erythroid 2 like 3 | 7 | Rare Single Gene Mutation | 2 | – | 4 | ||
| NFIA | nuclear factor I/A | 1 | Rare Single Gene Mutation | 2 | – | 15 | ||
| NFIB | nuclear factor I B | 9 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 5 | |
| NFIX | nuclear factor I/X (CCAAT-binding transcription factor) | 19 | Rare Single Gene Mutation, Syndromic | – | S | – | 14 | |
| NINL | Ninein-like | 20 | Rare Single Gene Mutation | 2 | – | 8 | ||
| 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 | ||
| NIPBL | Nipped-B homolog (Drosophila) | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 17 | |
| NLGN1 | neuroligin 1 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 20 | ||
| NLGN2 | Neuroligin 2 | 17 | Rare Single Gene Mutation, Functional | 1 | 3 | 9 | ||
| NLGN3 | neuroligin 3 | X | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 6.5 | 39 | ||
| NLGN4X | neuroligin 4, X-linked | X | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 12 | 39 | ||
| NLGN4Y | neuroligin 4, Y-linked | Y | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 6 | ||
| NOVA2 | NOVA alternative splicing regulator 2 | 19 | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| NPFFR2 | neuropeptide FF receptor 2 | 4 | Rare Single Gene Mutation | 3 | – | 7 | ||
| 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, Functional | 2 | S | – | 22 | |
| NR3C2 | Nuclear receptor subfamily 3, group C, member 2 | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 11 | |
| NR4A2 | nuclear receptor subfamily 4 group A member 2 | 2 | Rare Single Gene Mutation, Syndromic | 1 | 7.75 | 10 | ||
| NRCAM | neuronal cell adhesion molecule | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| NRP2 | neuropilin 2 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 10 | ||
| NRXN1 | neurexin 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 143.75 | 103 | ||
| NRXN2 | neurexin 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | 7 | 14 | ||
| NRXN3 | neurexin 3 | 14 | Rare Single Gene Mutation, Genetic Association, Functional | 1 | 11.1 | 23 | ||
| NSD1 | nuclear receptor binding SET domain protein 1 | 5 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 26 | |
| NSD2 | nuclear receptor binding SET domain protein 2 | 4 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 12 | |
| NSMCE3 | NSE3 homolog, SMC5-SMC6 complex component | 15 | Rare Single Gene Mutation, Functional | 2 | – | 4 | ||
| NTNG1 | netrin G1 | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | – | 8 | |
| NTNG2 | netrin G2 | 9 | Rare Single Gene Mutation, Syndromic | – | S | – | 4 | |
| NTRK1 | neurotrophic tyrosine kinase, receptor, type 1 | 1 | Rare Single Gene Mutation, Syndromic | 2 | – | 9 | ||
| NKX2-2 | NK2 homeobox 2 | 20 | Genetic Association, Functional | 3 | – | 2 | ||
| NPAS2 | neuronal PAS domain protein 2 | 2 | Genetic Association | 2 | – | 4 | ||
| NTRK2 | neurotrophic receptor tyrosine kinase 2 | 9 | Rare Single Gene Mutation, Syndromic | – | S | – | 8 | |
| NTRK3 | neurotrophic tyrosine kinase, receptor, type 3 | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 15 | ||
| 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 | – | 5 | ||
| NUP155 | nucleoporin 155 | 5 | Rare Single Gene Mutation | 1 | 0.1 | 3 | ||
| NXF1 | nuclear RNA export factor 1 | 11 | Rare Single Gene Mutation | 3 | – | 2 | ||
| NXPH1 | neurexophilin 1 | 7 | Rare Single Gene Mutation | 2 | – | 6 | ||
| OCRL | oculocerebrorenal syndrome of Lowe | X | Rare Single Gene Mutation, Syndromic | – | S | – | 9 | |
| ODF3L2 | outer dense fiber of sperm tails 3-like 2 | 19 | Rare Single Gene Mutation | 2 | – | 2 | ||
| OFD1 | OFD1, centriole and centriolar satellite protein | X | Rare Single Gene Mutation | 2 | – | 4 | ||
| OPHN1 | oligophrenin 1 | X | Rare Single Gene Mutation, Syndromic | 2 | – | 16 | ||
| 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 | Genetic Association | 2 | – | 1 | ||
| OR2T10 | olfactory receptor family 2 subfamily T member 10 | 1 | Rare Single Gene Mutation | 2 | – | 3 | ||
| OR52M1 | Olfactory receptor, family 52, subfamily M, member 1 | 11 | Rare Single Gene Mutation | 2 | – | 3 | ||
| OTUD7A | OTU deubiquitinase 7A | 15 | Rare Single Gene Mutation, Functional | 2 | – | 6 | ||
| OTX1 | orthodenticle homeobox 1 | 2 | Genetic Association | 2 | – | 3 | ||
| 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 | – | 50 | ||
| P2RX5 | Purinergic receptor P2X, ligand gated ion channel, 5 | 17 | Rare Single Gene Mutation | 2 | – | 4 | ||
| P4HA2 | Prolyl 4-hydroxylase, alpha polypeptide II | 5 | Rare Single Gene Mutation | 2 | – | 4 | ||
| 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 | 1 | S | 1.35 | 13 | |
| PACS2 | phosphofurin acidic cluster sorting protein 2 | 14 | Rare Single Gene Mutation, Syndromic | – | S | – | 6 | |
| PAFAH1B2 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | 11 | Rare Single Gene Mutation | 2 | – | 4 | ||
| PAH | Phenylalanine hydroxylase | 12 | Rare Single Gene Mutation, Syndromic | 1 | – | 10 | ||
| PAK1 | p21 (RAC1) activated kinase 1 | 11 | Rare Single Gene Mutation, Syndromic | – | S | – | 6 | |
| PAK2 | p21 (RAC1) activated kinase 2 | 3 | Rare Single Gene Mutation, Syndromic | 2 | – | 5 | ||
| PAPOLG | poly(A) polymerase gamma | 2 | Rare Single Gene Mutation | 2 | – | 5 | ||
| PARD3B | Par-3 partitioning defective 3 homolog B (C. elegans) | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| PATJ | PATJ, crumbs cell polarity complex component | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| PAX5 | Paired box 5 | 9 | Rare Single Gene Mutation | 1 | 5.75 | 10 | ||
| PAX6 | Paired box 6 | 11 | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 9 | |
| PBX1 | PBX homeobox 1 | 1 | Rare Single Gene Mutation | 2 | – | 6 | ||
| PC | pyruvate carboxylase | 11 | Rare Single Gene Mutation | 3 | – | 8 | ||
| PCCA | propionyl-CoA carboxylase alpha subunit | 13 | Rare Single Gene Mutation, Syndromic | – | S | – | 11 | |
| PCCB | propionyl-CoA carboxylase beta subunit | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 10 | |
| PCDH10 | protocadherin 10 | 4 | Rare Single Gene Mutation, Functional | 2 | – | 11 | ||
| PCDH11X | protocadherin 11 X-linked | X | Rare Single Gene Mutation | 2 | – | 3 | ||
| PCDH15 | protocadherin related 15 | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 10 | ||
| PCDH19 | protocadherin 19 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 54 | |
| PCDH9 | protocadherin 9 | 13 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 10 | ||
| PCDHA1 | Protocadherin alpha 1 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 4 | ||
| PCDHA10 | Protocadherin alpha 10 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| 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 | – | 4 | ||
| 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 | – | 5 | ||
| PCDHA3 | Protocadherin alpha 3 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| PCDHA4 | Protocadherin alpha 4 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| PCDHA5 | Protocadherin alpha 5 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| PCDHA6 | Protocadherin alpha 6 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| PCDHA7 | Protocadherin alpha 7 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| PCDHA8 | Protocadherin alpha 8 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| PCDHA9 | Protocadherin alpha 9 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| PCDHAC1 | Protocadherin alpha subfamily C, 1 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| PCDHAC2 | Protocadherin alpha subfamily C, 2 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| PCM1 | pericentriolar material 1 | 8 | Rare Single Gene Mutation | 2 | – | 5 | ||
| PDCD1 | programmed cell death 1 | 2 | Rare Single Gene Mutation | 2 | – | 4 | ||
| PDE1C | phosphodiesterase 1C | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| PDE3B | phosphodiesterase 3B | 11 | Rare Single Gene Mutation | 3 | – | 6 | ||
| PDK2 | pyruvate dehydrogenase kinase 2 | 17 | Rare Single Gene Mutation | 2 | – | 5 | ||
| PDZD8 | PDZ domain containing 8 | 10 | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 3 | |
| PEBP4 | phosphatidylethanolamine binding protein 4 | 8 | Rare Single Gene Mutation | 3 | – | 1 | ||
| PER1 | period homolog 1 (Drosophila) | 17 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| PER2 | period circadian clock 2 | 2 | Rare Single Gene Mutation | 2 | 6.75 | 7 | ||
| PEX7 | peroxisomal biogenesis factor 7 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| PHF12 | PHD finger protein 12 | 17 | Rare Single Gene Mutation | 1 | 9.5 | 4 | ||
| PHF14 | PHD finger protein 14 | 7 | Rare Single Gene Mutation, Syndromic | 3 | – | 6 | ||
| PHF2 | PHD finger protein 2 | 9 | Rare Single Gene Mutation | 1 | 4.25 | 8 | ||
| PHF21A | PHD finger protein 21A | 11 | Rare Single Gene Mutation, Syndromic | 1 | S | 5.35 | 14 | |
| PHF3 | PHD finger protein 3 | 6 | Rare Single Gene Mutation | 1 | 9.75 | 5 | ||
| PHF7 | PHD finger protein 7 | 3 | Rare Single Gene Mutation | 2 | – | 3 | ||
| PHF8 | PHD finger protein 8 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 13 | |
| PHIP | pleckstrin homology domain interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 21 | |
| PHRF1 | PHD and ring finger domains 1 | 11 | Rare Single Gene Mutation | 2 | – | 5 | ||
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3 | Rare Single Gene Mutation, Syndromic | 3 | – | 8 | ||
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | 19 | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| PITX1 | paired-like homeodomain 1 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| PJA1 | praja ring finger ubiquitin ligase 1 | X | Syndromic | 3 | S | – | 1 | |
| 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 | – | 8 | ||
| PLCD4 | phospholipase C delta 4 | 2 | Rare Single Gene Mutation | 2 | – | 5 | ||
| PLN | phospholamban | 6 | Rare Single Gene Mutation | 2 | – | 4 | ||
| PLXNA3 | plexin A3 | X | Rare Single Gene Mutation, Syndromic | 2 | – | 8 | ||
| PLXNA4 | Plexin A4 | 7 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| PLXNB1 | plexin B1 | 3 | Rare Single Gene Mutation | 2 | – | 4 | ||
| PNPLA7 | patatin like phospholipase domain containing 7 | 9 | Rare Single Gene Mutation | 2 | – | 5 | ||
| POGZ | Pogo transposable element with ZNF domain | 1 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 35.4 | 54 | |
| PHB1 | prohibitin 1 | 17 | Genetic Association | 2 | – | 1 | ||
| PIK3CG | phosphoinositide-3-kinase, catalytic, gamma polypeptide | 7 | Genetic Association | 2 | – | 4 | ||
| POLA2 | DNA polymerase alpha 2, accessory subunit | 11 | Rare Single Gene Mutation | 2 | – | 4 | ||
| POLR2A | RNA polymerase II subunit A | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 8 | |
| POLR3A | RNA polymerase III subunit A | 10 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 9 | |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1 | Rare Single Gene Mutation, Syndromic | 1 | S | 1 | 8 | |
| POMT1 | protein O-mannosyltransferase 1 | 9 | Rare Single Gene Mutation | 2 | – | 3 | ||
| PON1 | paraoxonase 1 | 7 | Genetic Association | 2 | – | 5 | ||
| POT1 | Protection of telomeres 1 homolog (S. pombe) | 7 | Rare Single Gene Mutation | 2 | – | 2 | ||
| POU3F3 | POU class 3 homeobox 3 | 2 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| PPFIA1 | PTPRF interacting protein alpha 1 | 11 | Rare Single Gene Mutation | 2 | – | 4 | ||
| PPM1D | protein phosphatase, Mg2+/Mn2+ dependent 1D | 17 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 9 | |
| PPP1R1B | Protein phosphatase 1, regulatory (inhibitor) subunit 1B | 17 | Genetic Association | 2 | – | 1 | ||
| PPP1R9B | protein phosphatase 1 regulatory subunit 9B | 17 | Rare Single Gene Mutation | 1 | 1.5 | 4 | ||
| PPP2CA | protein phosphatase 2 catalytic subunit alpha | 5 | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| PPP2R1B | protein phosphatase 2 regulatory subunit A, beta | 11 | Rare Single Gene Mutation | 2 | – | 7 | ||
| PPP2R5D | Protein phosphatase 2, regulatory subunit B', delta | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | 8.5 | 27 | |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | 4 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 10 | |
| PPP5C | protein phosphatase 5 catalytic subunit | 19 | Rare Single Gene Mutation | 1 | 1 | 3 | ||
| PREX1 | Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 | 20 | Rare Single Gene Mutation, Genetic Association | 2 | – | 4 | ||
| PRICKLE1 | Prickle homolog 1 (Drosophila) | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 6 | ||
| PRICKLE2 | prickle planar cell polarity protein 2 | 3 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| PRKAR1B | protein kinase cAMP-dependent type I regulatory subunit beta | 7 | Rare Single Gene Mutation, Syndromic | 2 | – | 7 | ||
| PRKCA | protein kinase C alpha | 17 | Rare Single Gene Mutation | 2 | – | 5 | ||
| PRKCB | protein kinase C beta | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| PRKD1 | Protein kinase D1 | 14 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| PRKD2 | protein kinase D2 | 19 | Rare Single Gene Mutation | 2 | – | 4 | ||
| PRKDC | protein kinase, DNA-activated, catalytic polypeptide | 8 | Rare Single Gene Mutation, Syndromic, Functional | 2 | – | 8 | ||
| PRKN | parkin RBR E3 ubiquitin protein ligase | 6 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 18 | ||
| PRODH | Proline dehydrogenase (oxidase) 1 | 22 | Syndromic, Genetic Association | 2 | S | – | 6 | |
| PRPF39 | pre-mRNA processing factor 39 | 14 | Rare Single Gene Mutation | 2 | – | 3 | ||
| PRPF8 | pre-mRNA processing factor 8 | 17 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 8 | |
| PRR12 | proline rich 12 | 19 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 7 | |
| PRUNE2 | prune homolog 2 | 9 | Rare Single Gene Mutation, Syndromic | 2 | – | 11 | ||
| PSD3 | pleckstrin and Sec7 domain containing 3 | 8 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 6 | 4 | |
| PTBP2 | polypyrimidine tract binding protein 2 | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| PTCHD1 | patched domain containing 1 | X | Rare Single Gene Mutation, Genetic Association | 1 | – | 15 | ||
| PTCHD1-AS | PTCHD1antisense RNA (head to head) | X | Rare Single Gene Mutation | 2 | 17.6 | 3 | ||
| PTDSS1 | phosphatidylserine synthase 1 | 8 | Rare Single Gene Mutation, Syndromic | 3 | – | 6 | ||
| PTEN | phosphatase and tensin homolog (mutated in multiple advanced cancers 1) | 10 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 63.15 | 80 | |
| PTGS2 | prostaglandin-endoperoxide synthase 2 | 1 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 8 | ||
| PRR14L | proline rich 14 like | 22 | Rare Single Gene Mutation | 1 | – | 5 | ||
| PSMD11 | proteasome 26S subunit, non-ATPase 11 | 17 | Rare Single Gene Mutation | 1 | – | 2 | ||
| PSMD6 | proteasome 26S subunit, non-ATPase 6 | 3 | Rare Single Gene Mutation | 1 | – | 3 | ||
| PTK7 | Protein tyrosine kinase 7 (inactive) | 6 | Rare Single Gene Mutation | 1 | – | 7 | ||
| PTPN11 | protein tyrosine phosphatase, non-receptor type 11 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 23 | |
| PTPN4 | protein tyrosine phosphatase non-receptor type 4 | 2 | Rare Single Gene Mutation, Syndromic | – | S | – | 4 | |
| PTPRB | protein tyrosine phosphatase, receptor type B | 12 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| PTPRC | protein tyrosine phosphatase, receptor type, C | 1 | Rare Single Gene Mutation, Genetic Association | 2 | – | 11 | ||
| PTPRT | protein tyrosine phosphatase, receptor type, T | 20 | Rare Single Gene Mutation, Functional | 2 | – | 10 | ||
| PXDN | peroxidasin | 2 | Rare Single Gene Mutation, Syndromic | 2 | – | 8 | ||
| PYHIN1 | Pyrin and HIN domain family, member 1 | 1 | Rare Single Gene Mutation | 2 | – | 4 | ||
| QRICH1 | glutamine rich 1 | 3 | Rare Single Gene Mutation, Syndromic | 2 | – | 12 | ||
| 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 | – | 17 | ||
| RAB43 | RAB43, member RAS oncogene family | 3 | Rare Single Gene Mutation | 2 | – | 2 | ||
| RAC1 | Rac family small GTPase 1 | 7 | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 8 | |
| RAD21L1 | RAD21 cohesin complex component like 1 | 20 | Rare Single Gene Mutation | 2 | – | 3 | ||
| RAI1 | retinoic acid induced 1 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 12.25 | 32 | |
| RALA | RAS like proto-oncogene A | 7 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| RALGAPB | Ral GTPase activating protein non-catalytic beta subunit | 20 | Rare Single Gene Mutation | 1 | – | 6 | ||
| RANBP17 | RAN binding protein 17 | 5 | Rare Single Gene Mutation | 2 | – | 8 | ||
| RAPGEF4 | Rap guanine nucleotide exchange factor (GEF) 4 | 2 | Rare Single Gene Mutation | 2 | – | 17 | ||
| 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 | 2 | – | 42 | ||
| RBM27 | RNA binding motif protein 27 | 5 | Rare Single Gene Mutation | 2 | – | 4 | ||
| REEP3 | receptor accessory protein 3 | 10 | Rare Single Gene Mutation | 2 | – | 3 | ||
| RELN | Reelin | 7 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 7.2 | 62 | ||
| RERE | Arginine-glutamic acid dipeptide (RE) repeats | 1 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 6.5 | 9 | |
| RFX3 | regulatory factor X3 | 9 | Rare Single Gene Mutation, Syndromic | 1 | 15.95 | 10 | ||
| RFX4 | regulatory factor X4 | 12 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 2 | |
| RFX7 | regulatory factor X7 | 15 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 4 | |
| RGS7 | regulator of G-protein signaling 7 | 1 | Rare Single Gene Mutation | 2 | – | 6 | ||
| RHEB | Ras homolog, mTORC1 binding | 7 | Syndromic | – | S | – | 1 | |
| RIMS1 | Regulating synaptic membrane exocytosis 1 | 6 | Rare Single Gene Mutation, Genetic Association | 1 | 11.35 | 9 | ||
| RIMS2 | regulating synaptic membrane exocytosis 2 | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association | 3 | S | – | 5 | |
| RIMS3 | regulating synaptic membrane exocytosis 3 | 1 | Rare Single Gene Mutation | 2 | – | 4 | ||
| RLIM | Ring finger protein, LIM domain interacting | X | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| 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 | – | 2 | ||
| 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 | – | 9 | ||
| RORA | RAR-related orphan receptor A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | – | S | – | 21 | |
| RORB | RAR related orphan receptor B | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 8.25 | 10 | |
| 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 | – | 16 | |
| RSRC1 | arginine and serine rich coiled-coil 1 | 3 | Syndromic, Genetic Association | – | S | – | 7 | |
| SAE1 | SUMO1 activating enzyme subunit 1 | 19 | Rare Single Gene Mutation | 2 | – | 4 | ||
| SAMD11 | sterile alpha motif domain containing 11 | 1 | Rare Single Gene Mutation | 2 | – | 3 | ||
| RP11-1407O15.2 | 17 | Rare Single Gene Mutation | 2 | – | 1 | |||
| RUNX1T1 | RUNX1 partner transcriptional co-repressor 1 | 8 | Rare Single Gene Mutation | 1 | – | 3 | ||
| SASH1 | SAM and SH3 domain containing 1 | 6 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SATB1 | SATB homeobox 1 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 2.5 | 4 | |
| SATB2 | SATB homeobox 2 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | S | 24.95 | 41 | |
| SBF1 | SET binding factor 1 | 22 | Rare Single Gene Mutation | 2 | – | 11 | ||
| SCAF1 | SR-related CTD associated factor 1 | 19 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SCAF4 | SR-related CTD associated factor 4 | 21 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 5 | |
| SCFD2 | sec1 family domain containing 2 | 4 | Rare Single Gene Mutation | 2 | – | 2 | ||
| SCN1A | sodium channel, voltage-gated, type I, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | – | 85 | |
| SCN2A | sodium channel, voltage-gated, type II, alpha subunit | 2 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 109.3 | 97 | ||
| SCN4A | Sodium channel, voltage gated, type IV alpha subunit | 17 | Rare Single Gene Mutation | 2 | – | 5 | ||
| SCN8A | sodium channel, voltage gated, type VIII, alpha subunit | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 53 | ||
| RAD21 | RAD21cohesin complex component | 8 | Syndromic | – | S | – | 4 | |
| RHOXF1 | Rhox homeobox family, member 1 | X | Genetic Association | 2 | – | 3 | ||
| RIT2 | Ras-like without CAAX 2 | 18 | Genetic Association | 2 | – | 3 | ||
| SCN9A | sodium voltage-gated channel alpha subunit 9 | 2 | Rare Single Gene Mutation | 2 | – | 7 | ||
| 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 | – | 18 | ||
| SENP1 | SUMO specific peptidase 1 | 12 | Rare Single Gene Mutation | 3 | – | 2 | ||
| SERPINE1 | serpin family E member 1 | 7 | Genetic Association | 2 | – | 2 | ||
| SET | SETnuclear proto-oncogene | 9 | Rare Single Gene Mutation | 2 | – | 6 | ||
| SETBP1 | SET binding protein 1 | 18 | Rare Single Gene Mutation, Syndromic | 1 | – | 26 | ||
| RPS10P2-AS1 | ribosomal protein S10 pseudogene 2 anti-sense 1 | 20 | Genetic Association, Functional | 2 | – | 4 | ||
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | 16 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 4.35 | 8 | |
| SETD1B | SET domain containing 1B | 12 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 18 | |
| SETD2 | SET domain containing 2 | 3 | Rare Single Gene Mutation, Syndromic | 1 | – | 18 | ||
| SETD5 | SET domain containing 5 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | 28.05 | 31 | |
| SETDB1 | SET domain, bifurcated 1 | 1 | Rare Single Gene Mutation | 2 | – | 5 | ||
| SETDB2 | SET domain, bifurcated 2 | 13 | Rare Single Gene Mutation, Syndromic | 2 | – | 3 | ||
| SEZ6L2 | SEZ6L2 seizure related 6 homolog (mouse)-like 2 | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| SF3B1 | splicing factor 3b subunit 1 | 2 | Rare Single Gene Mutation | 2 | – | 6 | ||
| SGSH | N-sulfoglucosamine sulfohydrolase | 17 | Rare Single Gene Mutation, Syndromic | – | S | – | 6 | |
| SGSM3 | Small G protein signaling modulator 3 | 22 | Rare Single Gene Mutation | 2 | – | 7 | ||
| SH3RF1 | SH3 domain containing ring finger 1 | 4 | Rare Single Gene Mutation, Functional | 3 | – | 5 | ||
| SH3RF3 | SH3 domain containing ring finger 3 | 2 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SHANK1 | SH3 and multiple ankyrin repeat domains 1 | 19 | Rare Single Gene Mutation, Genetic Association | 2 | – | 13 | ||
| SHANK2 | SH3 and multiple ankyrin repeat domains 2 | 11 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | 18.55 | 47 | ||
| SHANK3 | SH3 and multiple ankyrin repeat domains 3 | 22 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 74.85 | 125 | |
| SHOX | short stature homeobox | X,Y | Rare Single Gene Mutation | 2 | – | 2 | ||
| SIK1 | Salt-inducible kinase 1 | 21 | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 7 | |
| SIN3A | SIN3 transcription regulator family member A | 15 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 15 | |
| SIN3B | SIN3 transcription regulator family member B | 19 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 5 | |
| SKI | SKIproto-oncogene | 1 | Rare Single Gene Mutation | 1 | 4.25 | 5 | ||
| SLC12A5 | Solute carrier family 12 (potassium/chloride transporter), member 5 | 20 | Rare Single Gene Mutation, Functional | 2 | – | 9 | ||
| SLC1A1 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 | 9 | Rare Single Gene Mutation, Genetic Association | 2 | – | 13 | ||
| SLC1A2 | Solute carrier family 1 (glial high affinity glutamate transporter), member 2 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 3 | – | 9 | ||
| SLC22A15 | Solute carrier family 22, member 15 | 1 | Genetic Association | 2 | – | 1 | ||
| SLC22A9 | solute carrier family 22 member 9 | 11 | Rare Single Gene Mutation | 2 | – | 5 | ||
| SLC23A1 | solute carrier family 23 member 1 | 5 | Rare Single Gene Mutation | 3 | – | 5 | ||
| SLC24A2 | solute carrier family 24 member 2 | 9 | Rare Single Gene Mutation | 2 | – | 4 | ||
| SLC25A12 | solute carrier family 25 (mitochondrial carrier, Aralar), member 12 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 24 | ||
| SLC25A27 | solute carrier family 25 member 27 | 6 | Genetic Association | 2 | – | 1 | ||
| SLC25A39 | solute carrier family 25 member 39 | 17 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SLC27A4 | Solute carrier family 27 (fatty acid transporter), member 4 | 9 | Rare Single Gene Mutation, Syndromic | 2 | – | 3 | ||
| SLC29A4 | solute carrier family 29 member 4 | 7 | Rare Single Gene Mutation | 2 | – | 2 | ||
| SLC35B1 | solute carrier family 35 member B1 | 17 | Genetic Association | 2 | – | 1 | ||
| SLC38A10 | solute carrier family 38, member 10 | 17 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SLC45A1 | solute carrier family 45 member 1 | 1 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| SLC4A10 | solute carrier family 4, sodium bicarbonate transporter-like, member 10 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 7 | ||
| SLC6A1 | Solute carrier family 6 (neurotransmitter transporter), member 1 | 3 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 31.15 | 44 | |
| SLC6A3 | Solute carrier family 6 (neurotransmitter transporter), member 3 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 2 | – | 16 | ||
| SLC6A4 | solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 | 17 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 28 | ||
| SLC6A8 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | X | Rare Single Gene Mutation, Syndromic | 2 | – | 20 | ||
| SLC7A3 | Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 | X | Rare Single Gene Mutation | 2 | – | 2 | ||
| SLC7A5 | solute carrier family 7 member 5 | 16 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| SLC7A7 | solute carrier family 7 member 7 | 14 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 20 | |
| SLC9A9 | solute carrier family 9 (sodium/hydrogen exchanger), member 9 | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 15 | ||
| SLCO1B3 | Solute carrier organic anion transporter family, member 1B3 | 12 | Rare Single Gene Mutation | 2 | – | 5 | ||
| SLITRK2 | SLIT and NTRK like family member 2 | X | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 7 | |
| SLITRK5 | SLIT and NTRK like family member 5 | 13 | Rare Single Gene Mutation, Functional | 2 | – | 10 | ||
| SMAD4 | SMAD family member 4 | 18 | Rare Single Gene Mutation | 2 | – | 8 | ||
| 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 | – | 26 | |
| SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 18 | ||
| SMARCC2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 | 12 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 10 | 16 | |
| SMC1A | structural maintenance of chromosomes 1A | X | Rare Single Gene Mutation, Syndromic | – | S | – | 15 | |
| SMC3 | structural maintenance of chromosomes 3 | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 11 | |
| SMG6 | SMG6, nonsense mediated mRNA decay factor | 17 | Rare Single Gene Mutation | 2 | – | 3 | ||
| SMURF1 | SMAD specific E3 ubiquitin protein ligase 1 | 7 | Rare Single Gene Mutation | 2 | – | 2 | ||
| SNAP25 | Synaptosomal-associated protein, 25kDa | 20 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| SND1 | staphylococcal nuclease and tudor domain containing 1 | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| SNTG2 | syntrophin gamma 2 | 2 | Rare Single Gene Mutation | 2 | – | 6 | ||
| SNX14 | Sorting nexin 14 | 6 | Rare Single Gene Mutation, Syndromic | – | S | – | 8 | |
| SNX5 | sorting nexin 5 | 20 | Rare Single Gene Mutation | 2 | – | 5 | ||
| SOD1 | superoxide dismutase 1 | 21 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 3 | ||
| SON | SONDNA binding protein | 21 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 11 | 19 | |
| SORCS3 | sortilin related VPS10 domain containing receptor 3 | 10 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 6 | ||
| SOS2 | SOS Ras/Rho guanine nucleotide exchange factor 2 | 14 | Rare Single Gene Mutation, Syndromic | 1 | – | 6 | ||
| SOX5 | SRY-box 5 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 1 | S | 17.6 | 16 | |
| SOX6 | SRY-box transcription factor 6 | 11 | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| SPARCL1 | SPARC like 1 | 4 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| SPAST | Spastin | 2 | Rare Single Gene Mutation, Syndromic | 1 | 8.1 | 14 | ||
| SPEN | spenfamily transcriptional repressor | 1 | Rare Single Gene Mutation, Syndromic | 2 | – | 14 | ||
| SPP2 | secreted phosphoprotein 2 | 2 | Rare Single Gene Mutation | 2 | – | 4 | ||
| SPRY2 | sprouty RTK signaling antagonist 2 | 13 | Rare Single Gene Mutation, Functional | 2 | – | 3 | ||
| SPTBN1 | spectrin beta, non-erythrocytic 1 | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 9 | |
| SRCAP | Snf2 related CREBBP activator protein | 16 | Rare Single Gene Mutation, Syndromic | 1 | – | 9 | ||
| SRGAP3 | SLIT-ROBO Rho GTPase activating protein 3 | 3 | Rare Single Gene Mutation | 2 | – | 6 | ||
| SRPRA | SRP receptor subunit alpha | 11 | Rare Single Gene Mutation | 1 | 4.75 | 3 | ||
| SRRM2 | serine/arginine repetitive matrix 2 | 16 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 12 | |
| 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 | – | 12 | ||
| STAG1 | stromal antigen 1 | 3 | Rare Single Gene Mutation, Syndromic | – | S | – | 8 | |
| STX1A | Syntaxin 1A (brain) | 7 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| STXBP1 | Syntaxin binding protein 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 19.1 | 66 | |
| STXBP5 | Syntaxin binding protein 5 (tomosyn) | 6 | Rare Single Gene Mutation | 2 | – | 7 | ||
| STYK1 | Serine/threonine/tyrosine kinase 1 | 12 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| SUPT16H | SPT16 homolog, facilitates chromatin remodeling subunit | 14 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 8 | |
| SYAP1 | Synapse associated protein 1 | X | Rare Single Gene Mutation | 2 | – | 2 | ||
| SYBU | syntabulin | 8 | Rare Single Gene Mutation | 3 | – | 1 | ||
| SYCE1 | synaptonemal complex central element protein 1 | 10 | Rare Single Gene Mutation | 3 | – | 2 | ||
| SYN1 | Synapsin 1 | X | Rare Single Gene Mutation, Functional | 1 | 2.35 | 24 | ||
| SYN2 | Synapsin II | 3 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 6 | ||
| SYNCRIP | synaptotagmin binding cytoplasmic RNA interacting protein | 6 | Rare Single Gene Mutation, Syndromic | 2 | – | 9 | ||
| SYNE1 | spectrin repeat containing, nuclear envelope 1 | 6 | Rare Single Gene Mutation, Genetic Association | 2 | – | 22 | ||
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | 6 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 40.75 | 84 | |
| SYNJ1 | synaptojanin 1 | 21 | Rare Single Gene Mutation | 2 | – | 2 | ||
| SYP | synaptophysin | X | Rare Single Gene Mutation | 3 | – | 4 | ||
| SYT1 | synaptotagmin 1 | 12 | Rare Single Gene Mutation, Syndromic | – | S | – | 8 | |
| TAF1 | TATA-box binding protein associated factor 1 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 14 | |
| TAF1C | TATA-box binding protein associated factor, RNA polymerase I subunit C | 16 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| TAF4 | TATA-box binding protein associated factor 4 | 20 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 4 | |
| TAF6 | TATA-box binding protein associated factor 6 | 7 | Rare Single Gene Mutation | 2 | – | 4 | ||
| TANC2 | etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 17 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 24.95 | 14 | |
| TAOK1 | TAO kinase 1 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 7 | |
| TAOK2 | TAO kinase 2 | 16 | Rare Single Gene Mutation, Functional | 2 | – | 8 | ||
| TBC1D23 | TBC1 domain family member 23 | 3 | Rare Single Gene Mutation, Syndromic | – | S | – | 4 | |
| TBC1D31 | TBC1 domain family, member 31 | 8 | Rare Single Gene Mutation | 2 | – | 6 | ||
| TBC1D5 | TBC1 domain family, member 5 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 9 | ||
| TBCK | TBC1 domain containing kinase | 4 | Rare Single Gene Mutation, Syndromic | 1 | S | 1 | 3 | |
| TBL1XR1 | transducin beta like 1 X-linked receptor 1 | 3 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 9.15 | 31 | ||
| TBR1 | T-box, brain, 1 | 2 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | – | 39 | ||
| TBX1 | T-box 1 | 22 | Rare Single Gene Mutation, Syndromic, Functional | – | S | – | 6 | |
| TBX22 | T-box transcription factor 22 | X | Rare Single Gene Mutation | 3 | – | 2 | ||
| TCF20 | Transcription factor 20 (AR1) | 22 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 38 | 16 | |
| STK39 | serine threonine kinase 39 (STE20/SPS1 homolog, yeast) | 2 | Genetic Association | 2 | – | 5 | ||
| SYT17 | synaptotagmin XVII | 16 | Genetic Association | 2 | – | 2 | ||
| TBCEL | tubulin folding cofactor E like | 11 | Rare Single Gene Mutation | 1 | – | 3 | ||
| TBL1X | transducin (beta)-like 1X-linked | X | Genetic Association | 2 | – | 1 | ||
| TCEAL1 | transcription elongation factor A like 1 | X | Rare Single Gene Mutation, Syndromic | 3 | S | – | 2 | |
| TCF4 | Transcription factor 4 | 18 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 13.5 | 62 | |
| TCF7L2 | Transcription factor 7-like 2 (T-cell specific, HMG-box) | 10 | Rare Single Gene Mutation, Syndromic | 1 | 2.1 | 9 | ||
| TDO2 | tryptophan 2,3-dioxygenase | 4 | Genetic Association | 2 | – | 4 | ||
| TECTA | tectorin alpha | 11 | Rare Single Gene Mutation | 2 | – | 8 | ||
| TEK | TEKreceptortyrosine kinase | 9 | Rare Single Gene Mutation | 1 | 2 | 3 | ||
| 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 | 2 | – | 5 | ||
| TET2 | Tet methylcytosine dioxygenase 2 | 4 | Rare Single Gene Mutation | 2 | – | 6 | ||
| TET3 | tet methylcytosine dioxygenase 3 | 2 | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| TFB2M | transcription factor B2, mitochondrial | 1 | Rare Single Gene Mutation | 3 | – | 1 | ||
| TFE3 | transcription factor binding to IGHM enhancer 3 | X | Rare Single Gene Mutation, Syndromic | – | S | – | 5 | |
| THBS1 | Thrombospondin 1 | 15 | Rare Single Gene Mutation, Genetic Association | 2 | – | 5 | ||
| THRA | thyroid hormone receptor alpha | 17 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| TLK2 | tousled-like kinase 2 | 17 | Rare Single Gene Mutation, Syndromic | 1 | S | 13.5 | 19 | |
| TM4SF19 | transmembrane 4 L six family member 19 | 3 | Rare Single Gene Mutation | 2 | – | 3 | ||
| TM4SF20 | Transmembrane 4 L six family member 20 | 2 | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| TM9SF4 | transmembrane 9 superfamily member 4 | 20 | Rare Single Gene Mutation | 1 | 0.5 | 3 | ||
| TMEM134 | transmembrane protein 134 | 11 | Rare Single Gene Mutation | 3 | – | 2 | ||
| TMEM39B | transmembrane protein 39B | 1 | Rare Single Gene Mutation | 2 | – | 4 | ||
| TMLHE | trimethyllysine hydroxylase, epsilon | X | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| TNPO3 | transportin 3 | 7 | Rare Single Gene Mutation | 3 | – | 6 | ||
| TNRC6B | Trinucleotide repeat containing 6B | 22 | Rare Single Gene Mutation, Syndromic | 2 | – | 16 | ||
| TNRC6C | trinucleotide repeat containing adaptor 6C | 17 | Rare Single Gene Mutation | 2 | – | 6 | ||
| TNS2 | tensin 2 | 12 | Rare Single Gene Mutation | 3 | – | 2 | ||
| TOP2B | DNA topoisomerase II beta | 3 | Rare Single Gene Mutation, Functional | 2 | – | 5 | ||
| TOP3B | Topoisomerase (DNA) III beta | 22 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 7 | ||
| TPO | Thyroid peroxidase | 2 | Genetic Association | 2 | – | 1 | ||
| TRAF7 | TNF receptor associated factor 7 | 16 | Rare Single Gene Mutation, Syndromic | 1 | S | 3.5 | 8 | |
| TRAPPC2L | trafficking protein particle complex 2 like | 16 | Rare Single Gene Mutation, Syndromic | 3 | – | 4 | ||
| TRAPPC6B | trafficking protein particle complex 6B | 14 | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| TRAPPC9 | trafficking protein particle complex 9 | 8 | Rare Single Gene Mutation, Syndromic | 2 | – | 19 | ||
| TLE3 | TLE family member 3, transcriptional corepressor | 15 | Rare Single Gene Mutation | 1 | – | 3 | ||
| TRIM23 | tripartite motif containing 23 | 5 | Rare Single Gene Mutation | 1 | – | 7 | ||
| TRIM32 | tripartite motif containing 32 | 9 | Rare Single Gene Mutation, Functional | 3 | – | 5 | ||
| TRIO | Trio Rho guanine nucleotide exchange factor | 5 | Rare Single Gene Mutation, Syndromic, Functional | 1 | – | 39 | ||
| TRIP12 | Thyroid hormone receptor interactor 12 | 2 | Rare Single Gene Mutation, Syndromic | 1 | S | 27 | 30 | |
| TRPC6 | Transient receptor potential cation channel, subfamily C, member 6 | 11 | Rare Single Gene Mutation | 2 | 7.2 | 5 | ||
| TRPM1 | transient receptor potential cation channel subfamily M member 1 | 15 | Rare Single Gene Mutation | 2 | – | 4 | ||
| TRPM6 | transient receptor potential cation channel subfamily M member 6 | 9 | Rare Single Gene Mutation | 3 | – | 6 | ||
| TRRAP | transformation/transcription domain associated protein | 7 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 11 | |
| TSC1 | tuberous sclerosis 1 | 9 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | 17.1 | 30 | |
| TSC2 | tuberous sclerosis 2 | 16 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | – | 47 | |
| TSHZ3 | teashirt zinc finger homeobox 3 | 19 | Rare Single Gene Mutation, Functional | 1 | – | 5 | ||
| TSPAN17 | tetraspanin 17 | 5 | Rare Single Gene Mutation | 2 | – | 4 | ||
| TSPAN4 | tetraspanin 4 | 11 | Rare Single Gene Mutation | 2 | – | 4 | ||
| TSPAN7 | tetraspanin 7 | X | Rare Single Gene Mutation | 2 | – | 8 | ||
| TSPOAP1 | TSPO associated protein 1 | 17 | Rare Single Gene Mutation | 2 | – | 6 | ||
| TTI2 | TELO2 interacting protein 2 | 8 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| TTN | titin | 2 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 27 | |
| TUBGCP5 | tubulin, gamma complex associated protein 5 | 15 | Rare Single Gene Mutation | 2 | – | 6 | ||
| UBE3A | ubiquitin protein ligase E3A | 15 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | – | 39 | |
| UBE3C | Ubiquitin protein ligase E3C | 7 | Rare Single Gene Mutation, Syndromic | 2 | – | 5 | ||
| UBN2 | ubinuclein 2 | 7 | Rare Single Gene Mutation | 2 | – | 5 | ||
| TRPC5 | transient receptor potential cation channel subfamily C member 5 | X | Rare Single Gene Mutation | 3 | – | 7 | ||
| TSHZ1 | teashirt zinc finger homeobox 1 | 18 | Rare Single Gene Mutation, Syndromic | 1 | – | 5 | ||
| UBAP2L | ubiquitin associated protein 2 like | 1 | Rare Single Gene Mutation, Syndromic | 1 | – | 5 | ||
| UBR5 | ubiquitin protein ligase E3 component n-recognin 5 | 8 | Rare Single Gene Mutation | 2 | – | 10 | ||
| 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 | – | 9 | |
| UNC5D | unc-5 netrin receptor D | 8 | Rare Single Gene Mutation | 3 | – | 4 | ||
| UNC79 | unc-79 homolog, NALCN channel complex subunit | 14 | Rare Single Gene Mutation, Functional | 2 | – | 7 | ||
| UNC80 | unc-80 homolog, NALCN activator | 2 | Rare Single Gene Mutation | 2 | – | 9 | ||
| UPF2 | UPF2, regulator of nonsense mediated mRNA decay | 10 | Rare Single Gene Mutation, Functional | 2 | – | 10 | ||
| UPF3B | UPF3B, regulator of nonsense mediated mRNA decay | X | Rare Single Gene Mutation, Syndromic | 1 | S | – | 17 | |
| USH2A | usherin | 1 | Rare Single Gene Mutation | 2 | – | 8 | ||
| USP15 | ubiquitin specific peptidase 15 | 12 | Rare Single Gene Mutation | 2 | – | 3 | ||
| USP30 | ubiquitin specific peptidase 30 | 12 | Rare Single Gene Mutation | 3 | – | 3 | ||
| USP45 | Ubiquitin specific peptidase 45 | 6 | Rare Single Gene Mutation | 2 | – | 5 | ||
| USP7 | Ubiquitin specific peptidase 7 (herpes virus-associated) | 16 | Rare Single Gene Mutation, Syndromic, Functional | 2 | S | – | 11 | |
| USP9X | ubiquitin specific peptidase 9 X-linked | X | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 14 | |
| USP9Y | ubiquitin specific peptidase 9, Y-linked | Y | Rare Single Gene Mutation, Genetic Association | 2 | – | 2 | ||
| VAMP2 | vesicle associated membrane protein 2 | 17 | Rare Single Gene Mutation, Syndromic | – | S | – | 3 | |
| VEZF1 | vascular endothelial zinc finger 1 | 17 | Rare Single Gene Mutation | 1 | 0.5 | 3 | ||
| VIL1 | Villin 1 | 2 | Rare Single Gene Mutation | 2 | – | 3 | ||
| VPS13B | vacuolar protein sorting 13 homolog B (yeast) | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 1 | S | 6.35 | 26 | |
| VSIG4 | V-set and immunoglobulin domain containing 4 | X | Rare Single Gene Mutation | 2 | – | 2 | ||
| VWA7 | von Willebrand factor A domain containing 7 | 6 | Rare Single Gene Mutation | 3 | – | 2 | ||
| WAC | WW domain containing adaptor with coiled-coil | 10 | Rare Single Gene Mutation, Syndromic | 1 | S | 15 | 26 | |
| WASF1 | WAS protein family member 1 | 6 | Syndromic | – | S | – | 3 | |
| WDFY3 | WD repeat and FYVE domain containing 3 | 4 | Rare Single Gene Mutation, Syndromic, Functional | 1 | 17.2 | 22 | ||
| WDFY4 | WDFY family member 4 | 10 | Rare Single Gene Mutation | 2 | – | 9 | ||
| WDR26 | WD repeat domain 26 | 1 | Rare Single Gene Mutation, Syndromic | – | S | – | 7 | |
| WNK3 | WNK lysine deficient protein kinase 3 | X | Rare Single Gene Mutation | 2 | – | 6 | ||
| WNT1 | Wingless-type MMTV integration site family, member 1 | 12 | Rare Single Gene Mutation, Syndromic, Genetic Association | 2 | – | 5 | ||
| WWOX | WW domain containing oxidoreductase | 16 | Rare Single Gene Mutation, Syndromic | 2 | – | 13 | ||
| WWP1 | WW domain containing E3 ubiquitin protein ligase 1 | 8 | Rare Single Gene Mutation | 3 | – | 2 | ||
| XPC | xeroderma pigmentosum, complementation group C | 3 | Rare Single Gene Mutation, Syndromic | – | S | – | 12 | |
| XPO1 | exportin 1 | 2 | Rare Single Gene Mutation, Genetic Association | 2 | – | 8 | ||
| XRCC6 | X-ray repair cross complementing 6 | 22 | Rare Single Gene Mutation | 3 | – | 2 | ||
| YEATS2 | YEATS domain containing 2 | 3 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| YTHDC2 | YTH domain containing 2 | 5 | Rare Single Gene Mutation, Genetic Association | 2 | – | 6 | ||
| YWHAE | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 17 | Rare Single Gene Mutation | 2 | – | 5 | ||
| YWHAG | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | 7 | Rare Single Gene Mutation, Syndromic | 3 | S | – | 9 | |
| YWHAZ | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | 8 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional | 3 | – | 15 | ||
| YY1 | YY1transcription factor | 14 | Rare Single Gene Mutation, Syndromic, Functional | 1 | S | – | 7 | |
| ZBTB16 | Zinc finger and BTB domain containing 16 | 11 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 3 | ||
| ZBTB20 | Zinc finger and BTB domain containing 20 | 3 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 29 | |
| ZBTB7A | zinc finger and BTB domain containing 7A | 19 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| ZC3H11A | zinc finger CCCH-type containing 11A | 1 | Rare Single Gene Mutation | 2 | – | 4 | ||
| TRIM33 | Tripartite motif containing 33 | 1 | Genetic Association | 2 | – | 1 | ||
| UBE2H | ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) | 7 | Genetic Association | 2 | – | 2 | ||
| UBR1 | ubiquitin protein ligase E3 component n-recognin 1 | 15 | Rare Single Gene Mutation | 1 | 1.6 | 1 | ||
| VASH1 | vasohibin 1 | 14 | Genetic Association | 2 | – | 4 | ||
| VDR | vitamin D receptor | 12 | Genetic Association, Functional | 2 | – | 10 | ||
| WDR5 | WD repeat domain 5 | 9 | Rare Single Gene Mutation, Syndromic | – | S | – | 2 | |
| ZBTB21 | zinc finger and BTB domain containing 21 | 21 | Rare Single Gene Mutation | 1 | – | 3 | ||
| ZC3H4 | zinc finger CCCH-type containing 4 | 19 | Rare Single Gene Mutation | 2 | – | 6 | ||
| ZFYVE26 | zinc finger FYVE-type containing 26 | 14 | Rare Single Gene Mutation | 2 | – | 6 | ||
| ZMIZ1 | zinc finger MIZ-type containing 1 | 10 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 8 | |
| ZMYM2 | zinc finger MYM-type containing 2 | 13 | Rare Single Gene Mutation, Syndromic | 2 | S | – | 8 | |
| ZMYND11 | Zinc finger, MYND-type containing 11 | 10 | Rare Single Gene Mutation, Syndromic | 2 | – | 13 | ||
| ZMYND8 | zinc finger MYND-type containing 8 | 20 | Rare Single Gene Mutation, Syndromic | 1 | S | 4.5 | 8 | |
| ZNF18 | zinc finger protein 18 | 17 | Rare Single Gene Mutation | 2 | – | 2 | ||
| ZNF292 | zinc finger protein 292 | 6 | Rare Single Gene Mutation, Syndromic | 1 | S | – | 11 | |
| ZNF385B | Zinc finger protein 385B | 2 | Genetic Association | 2 | – | 2 | ||
| ZNF462 | Zinc finger protein 462 | 9 | Rare Single Gene Mutation, Syndromic | 1 | S | 10.6 | 11 | |
| ZNF517 | Zinc finger protein 517 | 8 | Rare Single Gene Mutation | 2 | – | 5 | ||
| ZNF548 | zinc finger protein 548 | 19 | Rare Single Gene Mutation | 2 | – | 4 | ||
| ZNF559 | Zinc finger protein 559 | 19 | Rare Single Gene Mutation | 2 | – | 8 | ||
| ZNF626 | zinc finger protein 626 | 19 | Rare Single Gene Mutation | 2 | – | 3 | ||
| ZNF711 | zinc finger protein 711 | X | Rare Single Gene Mutation | 2 | – | 5 | ||
| ZNF713 | Zinc finger protein 713 | 7 | Rare Single Gene Mutation | 2 | – | 3 | ||
| ZNF774 | Zinc finger protein 774 | 15 | Rare Single Gene Mutation | 2 | – | 4 | ||
| ZNF804A | Zinc finger protein 804A | 2 | Rare Single Gene Mutation, Genetic Association, Functional | 2 | – | 16 | ||
| ZNF827 | Zinc finger protein 827 | 4 | Rare Single Gene Mutation, Genetic Association | 2 | – | 3 | ||
| ZSWIM6 | zinc finger SWIM-type containing 6 | 5 | Rare Single Gene Mutation, Syndromic, Genetic Association | – | S | – | 6 | |
| ZWILCH | zwilchkinetochore protein | 15 | Rare Single Gene Mutation | 2 | – | 5 |