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ClinGen Curated

Knowledge Base

Gene Validity Curations

Gene Disease curated Classification
A2ML1 Noonan syndrome with multiple lentigines No Reported Evidence | 06/07/2018
A2ML1 cardiofaciocutaneous syndrome No Reported Evidence | 06/07/2018
A2ML1 Costello syndrome No Reported Evidence | 06/07/2018
A2ML1 Noonan syndrome Disputed | 06/07/2018
A2ML1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/07/2018
ABCC9 hypertrichotic osteochondrodysplasia Cantu type Definitive | 09/27/2017
ABCD1 X-linked cerebral adrenoleukodystrophy Definitive | 02/07/2018
ABHD12 PHARC syndrome Definitive | 06/28/2018
ACAD9 acyl-CoA dehydrogenase 9 deficiency Definitive | 03/27/2018
ACADL long chain acyl-CoA dehydrogenase deficiency Disputed | 09/25/2018
ACADM medium chain acyl-CoA dehydrogenase deficiency Definitive | 01/23/2018
ACADS short chain acyl-CoA dehydrogenase deficiency Definitive | 01/23/2018
ACADVL very long chain acyl-CoA dehydrogenase deficiency Definitive | 02/20/2018
ACAT1 beta-ketothiolase deficiency Definitive | 05/22/2018
ACSL4 non-syndromic X-linked intellectual disability Moderate | 10/20/2017
ACTA1 hypertrophic cardiomyopathy No Reported Evidence |
ACTA2 familial thoracic aortic aneurysm and aortic dissection Definitive | 09/27/2016
ACTC1 hypertrophic cardiomyopathy Definitive | 10/23/2017
ACTN2 intrinsic cardiomyopathy Moderate | 08/06/2018
ADCY1 autosomal recessive nonsyndromic deafness Limited | 05/10/2017
ADGRV1 Usher syndrome type 2C Definitive | 02/15/2017
AFF2 FRAXE intellectual disability Definitive | 10/20/2017
AGTR2 non-syndromic X-linked intellectual disability Disputed | 11/16/2016
AIFM1 X-linked hereditary sensory and autonomic neuropathy with deafness Definitive | 07/09/2018
AKAP9 long QT syndrome 11 Limited | 12/15/2016
ALG13 undetermined early-onset epileptic encephalopathy Definitive | 04/26/2018
ALMS1 Alstrom syndrome Definitive | 02/10/2017
ALPK3 hypertrophic cardiomyopathy Strong | 02/07/2017
ANK2 Brugada syndrome Disputed |
ANKRD1 hypertrophic cardiomyopathy Limited | 09/18/2017
AP1S2 non-syndromic X-linked intellectual disability Definitive | 10/20/2017
APC APC-related attenuated familial adenomatous polyposis Definitive | 09/11/2017
AQP5 palmoplantar keratoderma, Bothnian type Moderate | 07/06/2018
ARHGEF6 non-syndromic X-linked intellectual disability Limited | 06/28/2018
ARL2BP retinitis pigmentosa with or without situs inversus Limited | 07/06/2018
ATF6 achromatopsia 7 Strong | 11/16/2016
ATM hereditary nonpolyposis colon cancer Moderate | 08/28/2017
ATM hereditary breast carcinoma Definitive | 07/12/2017
ATM familial ovarian cancer Limited | 07/12/2017
ATP7A Menkes disease Definitive | 02/07/2018
ATRX X-linked intellectual disability-hypotonic face syndrome Definitive | 02/07/2018
AXIN2 oligodontia-cancer predisposition syndrome Moderate | 06/08/2017
BAG3 myofibrillar myopathy (disease) Definitive | 12/18/2016
BAP1 hereditary pheochromocytoma-paraganglioma Limited | 07/22/2017
BAP1 BAP1-related tumor predisposition syndrome Definitive | 10/12/2018
BARD1 familial ovarian cancer Limited | 08/09/2017
BARD1 hereditary breast carcinoma Definitive | 08/09/2017
BARD1 hereditary nonpolyposis colon cancer Limited | 06/08/2017
BCS1L Bjornstad syndrome Definitive | 07/09/2018
BDP1 nonsyndromic genetic deafness Limited | 09/11/2017
BGN familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
BLM Bloom syndrome Definitive | 10/09/2018
BMPR1A generalized juvenile polyposis/juvenile polyposis coli Definitive | 06/12/2017
BRAF Noonan syndrome Moderate | 07/24/2018
BRAF cardiofaciocutaneous syndrome Definitive | 07/24/2018
BRAF Costello syndrome Disputed | 07/24/2018
BRAF Noonan syndrome with multiple lentigines Limited | 07/24/2018
BRAF Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 07/25/2018
BRCA1 breast-ovarian cancer, familial, susceptibility to, 1 Definitive | 09/13/2017
BRCA2 breast-ovarian cancer, familial, susceptibility to, 2 Definitive | 09/13/2017
BRIP1 hereditary breast carcinoma Refuted | 05/10/2017
BRIP1 familial ovarian cancer Definitive | 10/12/2016
BRWD3 X-linked syndromic intellectual disability Definitive | 09/20/2018
BSND Bartter disease type 4a Definitive | 07/12/2018
C1QB immunodeficiency due to a classical component pathway complement deficiency Definitive | 01/09/2017
CABP2 nonsyndromic genetic deafness Strong | 09/08/2017
CACNA1C Brugada syndrome Disputed |
CACNA1H generalised epilepsy Disputed | 07/31/2018
CACNA2D1 Brugada syndrome 1 Disputed |
CACNB2 hypertrophic cardiomyopathy No Reported Evidence |
CACNB2 Brugada syndrome 1 Disputed |
CACNB4 epilepsy Disputed | 06/22/2018
CALR3 hypertrophic cardiomyopathy Limited | 08/06/2018
CASQ2 hypertrophic cardiomyopathy No Reported Evidence | 01/17/2017
CCDC50 nonsyndromic genetic deafness Limited | 12/19/2017
CD164 autosomal dominant nonsyndromic deafness 66 Limited | 03/20/2018
CD164 nonsyndromic genetic deafness Limited | 03/20/2018
CD3E severe combined immunodeficiency (disease) Definitive | 01/09/2017
CDC14A nonsyndromic genetic deafness Limited | 02/26/2018
CDC73 hyperparathyroidism-jaw tumor syndrome Definitive | 10/12/2018
CDH1 hereditary nonpolyposis colon cancer Limited | 06/08/2017
CDH1 hereditary breast carcinoma Definitive | 01/25/2017
CDH1 familial ovarian cancer No Reported Evidence | 08/03/2017
CDH1 hereditary diffuse gastric adenocarcinoma Definitive | 10/11/2018
CDH23 Usher syndrome type 1 Definitive | 01/30/2017
CDKL5 CDKL5 disorder Definitive | 07/02/2018
CDKN1B hereditary nonpolyposis colon cancer Limited | 06/08/2017
CEACAM16 nonsyndromic genetic deafness Moderate | 03/20/2018
CEP78 cone-rod dystrophy and hearing loss; CRDHL Strong | 04/12/2017
CHD1L congenital anomaly of kidney and urinary tract Limited | 11/18/2016
CHD2 complex neurodevelopmental disorder Definitive | 07/18/2018
CHD7 CHARGE syndrome Definitive | 08/22/2018
CHD8 autism spectrum disorder Definitive | 08/27/2018
CHEK1 familial ovarian cancer No Reported Evidence | 10/12/2016
CHEK1 hereditary breast carcinoma No Reported Evidence | 10/12/2016
CHEK2 familial ovarian cancer Disputed | 12/14/2016
CHEK2 hereditary nonpolyposis colon cancer Limited | 03/13/2017
CHEK2 hereditary breast carcinoma Definitive | 12/14/2016
CIB2 nonsyndromic genetic deafness Definitive | 02/20/2018
CISD2 Wolfram syndrome Strong | 03/27/2018
CLCN4 non-syndromic X-linked intellectual disability Definitive | 10/20/2017
CLIC5 autosomal recessive nonsyndromic deafness Moderate | 11/21/2017
CLPP Perrault syndrome 3 Definitive | 03/27/2018
CLRN1 Usher syndrome type 3 Definitive | 03/02/2017
COCH nonsyndromic genetic deafness Definitive | 01/05/2018
COL11A2 nonsyndromic genetic deafness Limited | 06/11/2018
COL11A2 Stickler syndrome Moderate | 06/12/2018
COL11A2 Stickler syndrome Definitive | 06/12/2018
COL11A2 nonsyndromic genetic deafness Limited | 06/11/2018
COL2A1 spondyloepiphyseal dysplasia, Stanescu type Moderate | 12/01/2016
COL3A1 familial thoracic aortic aneurysm and aortic dissection Definitive | 03/14/2016
COL4A6 deafness, X-linked 6 Limited | 01/16/2018
COL9A1 Stickler syndrome Limited | 03/26/2018
COX15 Leigh syndrome Strong |
CPS1 carbamoyl phosphate synthetase I deficiency disease Definitive | 10/12/2018
CPT1A carnitine palmitoyl transferase 1A deficiency Definitive | 01/23/2018
CPT2 carnitine palmitoyltransferase II deficiency Definitive | 03/27/2018
CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations Definitive | 02/21/2018
CRYM autosomal dominant nonsyndromic deafness 40 Limited |
CSRP3 hypertrophic cardiomyopathy 12 Moderate | 12/19/2017
CTCF intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Moderate |
CTNNA1 hereditary nonpolyposis colon cancer No Reported Evidence | 04/24/2017
CUL4B X-linked intellectual disability, Cabezas type Definitive | 02/21/2018
DCDC2 nonsyndromic genetic deafness Limited | 11/21/2017
DEPDC5 familial focal epilepsy with variable foci Definitive | 08/24/2018
DES myofibrillar myopathy 1 Definitive | 08/25/2017
DHCR7 Smith-Lemli-Opitz syndrome Definitive | 09/11/2018
DIABLO nonsyndromic genetic deafness Limited | 12/19/2017
DIAPH1 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome Definitive | 01/05/2018
DIAPH3 auditory neuropathy Moderate | 03/29/2017
DICER1 pleuropulmonary blastoma Definitive | 01/08/2017
DLG3 non-syndromic X-linked intellectual disability Definitive | 08/24/2018
DMXL2 autosomal recessive nonsyndromic deafness Moderate | 02/06/2017
DNM1 early infantile epileptic encephalopathy Definitive | 12/13/2016
DNMT1 autosomal dominant cerebellar ataxia, deafness and narcolepsy Definitive | 02/10/2017
DSP hypertrophic cardiomyopathy No Reported Evidence | 05/23/2017
DSPP dentinogenesis imperfecta (disease) Definitive | 04/17/2018
ECHS1 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Definitive | 10/09/2018
EDN3 Waardenburg syndrome type 4B Moderate | 05/08/2018
EDN3 Waardenburg syndrome type 4B Limited | 05/30/2018
EFEMP2 familial thoracic aortic aneurysm and aortic dissection Moderate | 12/22/2016
EFHC1 juvenile myoclonic epilepsy Disputed | 07/27/2018
EGLN1 hereditary pheochromocytoma-paraganglioma Moderate | 06/22/2017
EGLN2 hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
EHMT1 Kleefstra syndrome Definitive | 06/07/2018
ELAC2 combined oxidative phosphorylation defect type 17 Moderate |
ELMOD3 autosomal recessive nonsyndromic deafness 88 Limited | 05/04/2017
ELMOD3 nonsyndromic genetic deafness Limited | 05/04/2017
ENG generalized juvenile polyposis/juvenile polyposis coli Limited | 12/11/2017
EPAS1 hereditary pheochromocytoma-paraganglioma Disputed | 06/22/2017
EPCAM colorectal cancer, hereditary nonpolyposis, type 8 Definitive | 09/11/2017
EPCAM hereditary breast carcinoma No Reported Evidence | 04/12/2017
EPHX1 hereditary nonpolyposis colon cancer Limited | 11/08/2016
EPS8 autosomal recessive nonsyndromic deafness Moderate | 04/26/2017
EPS8L2 nonsyndromic genetic deafness Moderate | 11/21/2017
ESPN nonsyndromic genetic deafness Limited | 09/20/2018
ESPN nonsyndromic genetic deafness Definitive | 02/27/2018
ETFA multiple acyl-CoA dehydrogenase deficiency Definitive | 05/22/2018
ETFB multiple acyl-CoA dehydrogenase deficiency Moderate | 06/12/2018
ETFDH multiple acyl-CoA dehydrogenase deficiency Definitive | 05/22/2018
EVC Ellis-van Creveld syndrome Definitive | 02/06/2018
EVC2 Ellis-van Creveld syndrome Definitive | 02/06/2018
EXO1 hereditary nonpolyposis colon cancer Disputed | 06/08/2017
EXT1 exostoses, multiple, type 1 Definitive | 06/04/2018
EYA1 branchio-oto-renal syndrome Definitive | 08/30/2018
EYA4 nonsyndromic genetic deafness Definitive | 01/05/2018
FAN1 hereditary nonpolyposis colon cancer Limited | 10/23/2017
FBN1 familial thoracic aortic aneurysm and aortic dissection Definitive | 01/23/2017
FBN2 familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
FGD1 Aarskog-Scott syndrome, X-linked Definitive | 12/06/2017
FGFR3 achondroplasia Definitive | 12/01/2016
FH hereditary pheochromocytoma-paraganglioma Moderate | 06/22/2017
FLAD1 myopathy with abnormal lipid metabolism Moderate | 06/12/2018
FLCN Birt-Hogg-Dube syndrome Definitive | 06/04/2018
FLNA familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
FLNC myofibrillar myopathy 5 Definitive | 12/12/2017
FOLR1 neurodegenerative syndrome due to cerebral folate transport deficiency Definitive | 04/27/2018
FOXE3 familial thoracic aortic aneurysm and aortic dissection Moderate | 06/15/2016
FOXG1 FOXG1 disorder Definitive | 07/02/2018
FOXI1 enlarged vestibular aqueduct syndrome Disputed | 09/10/2018
FTSJ1 non-syndromic X-linked intellectual disability Moderate | 01/17/2018
FXN Friedreich ataxia Definitive | 12/22/2017
GAA glycogen storage disease II Definitive | 09/21/2017
GALNT12 colorectal cancer, susceptibility to, 1 Limited | 06/08/2017
GDI1 non-syndromic X-linked intellectual disability Moderate | 05/24/2018
GDNF hereditary pheochromocytoma-paraganglioma Limited | 07/22/2017
GEN1 familial ovarian cancer No Reported Evidence | 01/11/2017
GEN1 hereditary breast carcinoma Disputed | 12/13/2017
GIPC3 nonsyndromic genetic deafness Definitive | 08/22/2017
GJB2 autosomal recessive nonsyndromic deafness Definitive | 03/02/2017
GJB3 erythrokeratodermia variabilis Strong | 08/28/2018
GJB3 nonsyndromic genetic deafness Disputed | 08/23/2018
GJB6 nonsyndromic genetic deafness Refuted | 09/10/2018
GJB6 Clouston syndrome Definitive | 04/17/2018
GLA Fabry disease Definitive | 01/19/2018
GPD1L Brugada syndrome 1 Disputed |
GREM1 hereditary mixed polyposis syndrome Strong | 10/11/2016
GRHL2 nonsyndromic genetic deafness Strong | 01/16/2018
GRIA3 non-syndromic X-linked intellectual disability Limited | 10/20/2017
GRIN2D infantile epilepsy syndrome Limited | 07/06/2018
GRXCR2 nonsyndromic genetic deafness Limited | 11/21/2017
GSDME autosomal dominant nonsyndromic deafness Definitive | 07/19/2018
HADH hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Definitive | 06/26/2018
HADHB mitochondrial trifunctional protein deficiency Definitive | 05/08/2018
HARS Usher syndrome type 3 Refuted | 05/24/2018
HCN4 familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
HCN4 Brugada syndrome 1 Disputed |
HDAC8 Cornelia de Lange syndrome Definitive | 09/11/2018
HGF nonsyndromic genetic deafness Moderate | 01/16/2018
HMGCL 3-hydroxy-3-methylglutaric aciduria Definitive | 06/26/2018
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Definitive | 05/22/2018
HNF1A rare genetic diabetes mellitus Definitive | 10/05/2018
HNRNPK neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Moderate | 11/15/2016
HOMER2 nonsyndromic genetic deafness Moderate | 10/16/2018
HPRT1 Lesch-Nyhan syndrome Definitive | 03/07/2018
HRAS Noonan syndrome No Reported Evidence | 07/24/2018
HRAS cardiofaciocutaneous syndrome No Reported Evidence | 07/24/2018
HRAS Costello syndrome Definitive | 07/24/2018
HRAS Noonan syndrome with multiple lentigines No Reported Evidence | 07/24/2018
HRAS Noonan syndrome-like disorder with loose anagen hair Disputed | 07/25/2018
HSD17B10 HSD10 disease Definitive | 10/09/2018
HSD17B4 Perrault syndrome Definitive | 05/30/2018
HUWE1 non-syndromic X-linked intellectual disability Definitive | 10/20/2017
IDS mucopolysaccharidosis type 2 Definitive | 02/21/2018
IL1RAPL1 intellectual disability, X-linked 21 Definitive | 01/03/2018
ILDR1 nonsyndromic genetic deafness Definitive | 11/21/2017
JPH2 hypertrophic cardiomyopathy 17 Moderate | 07/18/2017
KARS nonsyndromic genetic deafness Limited | 08/24/2018
KCNA2 undetermined early-onset epileptic encephalopathy Strong | 10/20/2017
KCND3 Brugada syndrome 1 Disputed |
KCNE3 Brugada syndrome Disputed |
KCNE5 Brugada syndrome Disputed |
KCNH2 Brugada syndrome Disputed | 11/21/2017
KCNJ10 enlarged vestibular aqueduct syndrome Disputed | 09/18/2018
KCNJ8 Brugada syndrome 1 Disputed |
KCNQ1 hypertrophic cardiomyopathy No Reported Evidence | 04/04/2017
KCNQ1 hypertrophic cardiomyopathy No Reported Evidence | 01/31/2017
KCNQ2 undetermined early-onset epileptic encephalopathy Definitive | 06/14/2018
KCNQ4 nonsyndromic genetic deafness Definitive | 11/21/2017
KCNT1 malignant migrating partial seizures of infancy Definitive |
KDM5C X-linked syndromic intellectual disability Definitive | 09/28/2018
KDM5C X-linked syndromic intellectual disability Definitive | 09/19/2018
KIF1B hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
KITLG nonsyndromic genetic deafness Limited | 01/16/2018
KLF10 hypertrophic cardiomyopathy Limited | 08/01/2017
KLHL24 epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH Strong |
KLHL40 nemaline myopathy 8 Definitive |
KMT2D hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
KRAS Costello syndrome Disputed | 07/24/2018
KRAS Noonan syndrome Definitive | 07/24/2018
KRAS Noonan syndrome with multiple lentigines No Reported Evidence | 07/24/2018
KRAS cardiofaciocutaneous syndrome Strong | 07/24/2018
KRAS Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 07/25/2018
LAMB1 cobblestone lissencephaly without muscular or ocular involvement Moderate | 11/15/2016
LAMP2 Danon disease Definitive | 10/11/2017
LARS2 Perrault syndrome Strong | 06/27/2018
LBR regressive spondylometaphyseal dysplasia Moderate | 12/01/2016
LOX familial thoracic aortic aneurysm and aortic dissection Strong | 07/25/2016
LPIN1 myoglobinuria, acute recurrent, autosomal recessive Definitive | 09/25/2018
LRPAP1 myopia 23, autosomal recessive Moderate |
LRTOMT autosomal recessive nonsyndromic deafness 63 Definitive | 02/15/2017
LZTR1 cardiofaciocutaneous syndrome No Reported Evidence | 06/01/2018
LZTR1 Costello syndrome No Reported Evidence | 06/04/2018
LZTR1 Noonan syndrome with multiple lentigines No Reported Evidence | 06/04/2018
LZTR1 Noonan syndrome with multiple lentigines No Reported Evidence | 06/06/2018
LZTR1 cardiofaciocutaneous syndrome No Reported Evidence | 06/06/2018
LZTR1 Noonan syndrome Limited | 07/24/2018
LZTR1 Costello syndrome No Reported Evidence | 06/06/2018
LZTR1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/06/2018
LZTR1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/05/2018
LZTR1 Noonan syndrome Strong | 07/25/2018
MAGI2 infantile epilepsy syndrome Disputed | 06/26/2018
MAP2K1 Noonan syndrome Limited | 07/24/2018
MAP2K1 Costello syndrome Disputed | 07/24/2018
MAP2K1 Noonan syndrome with multiple lentigines Limited | 05/29/2018
MAP2K1 cardiofaciocutaneous syndrome Definitive | 05/29/2018
MAP2K1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 07/25/2018
MAP2K2 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 05/29/2018
MAP2K2 cardiofaciocutaneous syndrome Definitive | 07/24/2018
MAP2K2 Costello syndrome No Reported Evidence | 05/29/2018
MAP2K2 Noonan syndrome Limited | 06/01/2018
MAP2K2 Noonan syndrome with multiple lentigines No Reported Evidence | 05/29/2018
MARVELD2 nonsyndromic genetic deafness Definitive | 08/29/2018
MAT2A familial thoracic aortic aneurysm and aortic dissection Limited | 07/03/2016
MAX hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
MCM2 autosomal dominant nonsyndromic deafness 70 Limited | 01/04/2018
MCPH1 familial ovarian cancer No Reported Evidence | 01/11/2017
MCPH1 hereditary breast carcinoma Limited | 01/11/2017
MDH2 hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
MECP2 Rett syndrome Definitive | 05/02/2018
MED12 MED12-related intellectual disability syndrome Definitive | 04/27/2018
MEN1 hereditary pheochromocytoma-paraganglioma Moderate | 06/22/2017
MERTK hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
MET hereditary pheochromocytoma-paraganglioma Limited | 06/02/2017
MET papillary renal cell carcinoma Definitive | 10/11/2018
MET nonsyndromic genetic deafness Limited | 12/19/2017
MFAP5 familial thoracic aortic aneurysm and aortic dissection Moderate | 12/22/2016
MID1 X-linked Opitz G/BBB syndrome Definitive | 03/21/2018
MITF hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
MITF Waardenburg syndrome type 2 Definitive | 07/26/2018
MLH1 hereditary breast carcinoma Disputed | 06/14/2017
MLH1 colorectal cancer, hereditary nonpolyposis, type 2 Definitive | 07/10/2017
MLH1 constitutional mismatch repair deficiency syndrome Definitive | 10/09/2018
MLH3 hereditary nonpolyposis colon cancer Moderate | 02/14/2017
MLYCD malonic aciduria Definitive | 06/26/2018
MRAS Costello syndrome No Reported Evidence | 06/06/2018
MRAS Noonan syndrome with multiple lentigines No Reported Evidence | 06/06/2018
MRAS cardiofaciocutaneous syndrome No Reported Evidence | 06/06/2018
MRAS Noonan syndrome Limited | 06/06/2018
MRAS Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/06/2018
MRE11 hereditary breast carcinoma Disputed | 10/25/2017
MRE11 familial ovarian cancer Disputed | 10/25/2017
MSH2 Lynch syndrome Definitive | 09/11/2017
MSH2 hereditary breast carcinoma Disputed | 10/11/2017
MSH2 constitutional mismatch repair deficiency syndrome Definitive | 10/09/2018
MSH3 MSH3-related attenuated familial adenomatous polyposis Moderate | 12/13/2016
MSH3 hereditary nonpolyposis colon cancer Limited | 11/13/2017
MSH6 Lynch syndrome Definitive | 09/25/2017
MSH6 hereditary breast carcinoma Disputed | 07/26/2017
MSH6 constitutional mismatch repair deficiency syndrome Definitive | 10/09/2018
MSRB3 nonsyndromic genetic deafness Moderate | 11/15/2017
MUTYH hereditary breast carcinoma No Reported Evidence | 05/24/2017
MUTYH hereditary breast carcinoma No Reported Evidence | 05/25/2017
MUTYH familial ovarian cancer Limited | 11/29/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis Moderate | 10/09/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis Definitive | 06/12/2017
MUTYH familial ovarian cancer Limited | 11/29/2017
MYBPC3 hypertrophic cardiomyopathy 4 Definitive | 09/05/2017
MYH11 familial thoracic aortic aneurysm and aortic dissection Definitive | 07/03/2016
MYH6 hypertrophic cardiomyopathy Limited | 11/01/2017
MYH7 hypertrophic cardiomyopathy Definitive | 12/02/2017
MYH9 MYH-9 related disease Definitive | 07/17/2018
MYL2 hypertrophic cardiomyopathy 10 Definitive | 02/07/2017
MYL3 hypertrophic cardiomyopathy Definitive | 10/04/2016
MYLK familial thoracic aortic aneurysm and aortic dissection Strong | 12/18/2016
MYLK2 hypertrophic cardiomyopathy Limited | 04/18/2017
MYO15A nonsyndromic genetic deafness Definitive | 08/30/2018
MYO1A nonsyndromic genetic deafness Refuted | 01/16/2018
MYO1C autosomal dominant nonsyndromic deafness Disputed | 06/28/2018
MYO1F nonsyndromic genetic deafness Disputed | 08/22/2018
MYO6 nonsyndromic genetic deafness Definitive | 02/20/2018
MYO7A Usher syndrome type 1 Definitive | 06/29/2018
MYO7A nonsyndromic genetic deafness Definitive | 03/19/2018
MYO9A arthrogryposis syndrome Limited | 11/24/2016
MYOM1 hypertrophic cardiomyopathy Limited | 08/01/2018
MYOZ2 hypertrophic cardiomyopathy Limited | 08/01/2018
MYPN hypertrophic cardiomyopathy Limited | 06/05/2017
NADK2 progressive encephalopathy with leukodystrophy due to DECR deficiency Moderate | 02/27/2018
NARS2 nonsyndromic genetic deafness Limited | 12/19/2017
NBN hereditary breast carcinoma Limited | 09/27/2017
NBN Nijmegen breakage syndrome Definitive | 10/09/2018
NDP Norrie disease Definitive | 03/21/2018
NEXN hypertrophic cardiomyopathy 20 Limited | 11/01/2016
NF1 familial ovarian cancer No Reported Evidence | 02/22/2017
NF1 hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
NF2 neurofibromatosis type 2 Definitive | 03/01/2017
NFKBIZ hereditary nonpolyposis colon cancer Limited | 07/10/2017
NGLY1 NGLY1-deficiency Definitive | 12/01/2016
NHP2 dyskeratosis congenita, autosomal recessive 2 Limited | 01/25/2017
NHS Nance-Horan syndrome Definitive | 10/20/2017
NIPBL Cornelia de Lange syndrome Definitive | 06/20/2018
NLGN3 complex neurodevelopmental disorder Moderate | 09/19/2018
NLGN4X complex neurodevelopmental disorder Definitive | 09/12/2018
NOTCH1 familial thoracic aortic aneurysm and aortic dissection Limited | 04/06/2016
NRAS cardiofaciocutaneous syndrome Limited | 07/24/2018
NRAS Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 05/30/2018
NRAS Costello syndrome Limited | 07/24/2018
NRAS Noonan syndrome Definitive | 05/30/2018
NRAS Noonan syndrome with multiple lentigines Limited | 05/30/2018
NSD1 Sotos syndrome Definitive | 10/26/2018
NTHL1 NTHL1-related attenuated familial adenomatous polyposis Moderate | 06/08/2017
OBSCN hypertrophic cardiomyopathy Limited | 08/06/2018
OFD1 ciliopathy Definitive | 04/27/2018
OSBPL2 nonsyndromic genetic deafness Moderate | 05/16/2017
OTOF autosomal recessive nonsyndromic deafness 9 Definitive | 01/30/2017
OTOG nonsyndromic genetic deafness Definitive | 06/28/2018
OTOGL nonsyndromic genetic deafness Definitive | 01/05/2018
P2RX2 nonsyndromic genetic deafness Moderate | 02/20/2018
PAK3 X-linked syndromic intellectual disability Definitive | 08/15/2018
PALB2 familial ovarian cancer Moderate | 11/08/2017
PALB2 hereditary nonpolyposis colon cancer Limited | 03/12/2018
PALB2 hereditary breast carcinoma Definitive | 12/01/2016
PCDH15 Usher syndrome type 1 Definitive | 02/15/2017
PDLIM3 hypertrophic cardiomyopathy Limited | 08/06/2018
PDZD7 autosomal recessive nonsyndromic deafness Definitive | 04/26/2017
PHF6 Borjeson-Forssman-Lehmann syndrome Definitive | 02/21/2018
PIK3CA hereditary breast carcinoma No Reported Evidence | 02/08/2017
PIK3CA familial ovarian cancer No Reported Evidence | 02/08/2017
PIK3R1 short syndrome Definitive | 07/06/2018
PKD1 polycystic kidney disease 1 Definitive | 03/24/2018
PKD2 autosomal dominant polycystic kidney disease Definitive | 09/11/2018
PKP2 Brugada syndrome 1 Disputed |
PKP2 arrhythmogenic right ventricular dysplasia 9 Definitive | 03/08/2017
PLN cardiomyopathy Definitive | 09/19/2017
PLP1 Pelizaeus-Merzbacher disease Definitive | 03/07/2018
PMS1 Lynch syndrome Refuted | 05/22/2017
PMS2 hereditary breast carcinoma Disputed | 11/08/2017
PMS2 Lynch syndrome Definitive | 06/26/2017
PMS2 constitutional mismatch repair deficiency syndrome Definitive | 10/09/2018
PNPT1 autosomal recessive nonsyndromic deafness Limited | 02/23/2017
POLD1 Polymerase proofreading-related adenomatous polyposis Definitive | 04/10/2017
POLE Polymerase proofreading-related adenomatous polyposis Definitive | 12/11/2017
POU3F4 nonsyndromic genetic deafness Definitive | 01/05/2018
POU4F3 nonsyndromic genetic deafness Definitive | 11/21/2017
PPP1CB cardiofaciocutaneous syndrome No Reported Evidence | 06/05/2018
PPP1CB Noonan syndrome No Reported Evidence | 07/24/2018
PPP1CB Costello syndrome No Reported Evidence | 06/05/2018
PPP1CB Noonan syndrome-like disorder with loose anagen hair Strong | 07/25/2018
PPP1CB Noonan syndrome with multiple lentigines No Reported Evidence | 06/05/2018
PRKAG2 hypertrophic cardiomyopathy Definitive | 01/30/2017
PRKG1 familial thoracic aortic aneurysm and aortic dissection Strong | 12/22/2016
PRPS1 phosphoribosylpyrophosphate synthetase superactivity Limited | 07/09/2018
PSD3 antecubital pterygium syndrome Limited | 11/24/2016
PTCH1 nevoid basal cell carcinoma syndrome Definitive | 06/04/2018
PTCHD1 non-syndromic X-linked intellectual disability Definitive | 09/19/2018
PTEN PTEN hamartoma tumor syndrome Definitive | 10/09/2017
PTPN11 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 05/31/2018
PTPN11 Noonan syndrome with multiple lentigines Definitive | 07/25/2018
PTPN11 Noonan syndrome Definitive | 07/24/2018
PTPN11 cardiofaciocutaneous syndrome Disputed | 05/30/2018
PTPN11 Costello syndrome Disputed | 07/24/2018
PTPRJ hereditary nonpolyposis colon cancer Limited | 10/12/2018
PTPRQ autosomal recessive nonsyndromic deafness Definitive | 02/23/2017
RAB28 cone-rod dystrophy 18 Limited | 07/06/2018
RAB39B early-onset parkinsonism-intellectual disability syndrome Definitive | 06/04/2018
RAD50 familial ovarian cancer Disputed | 10/26/2016
RAD50 hereditary breast carcinoma Limited | 12/14/2016
RAD51C Fanconi anemia complementation group O Moderate | 01/05/2017
RAD51C familial ovarian cancer Definitive | 04/12/2017
RAD51C hereditary breast carcinoma Disputed | 05/10/2017
RAD51D hereditary breast carcinoma Limited | 11/08/2017
RAD51D familial ovarian cancer Definitive | 10/11/2017
RAF1 cardiofaciocutaneous syndrome Disputed | 05/31/2018
RAF1 Noonan syndrome with multiple lentigines Limited | 07/25/2018
RAF1 Noonan syndrome Definitive | 07/24/2018
RAF1 Costello syndrome Disputed | 07/24/2018
RAF1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 05/31/2018
RAI1 Smith-Magenis syndrome Definitive | 09/27/2018
RANGRF Brugada syndrome Disputed |
RASA1 Noonan syndrome Disputed | 06/07/2018
RASA1 cardiofaciocutaneous syndrome No Reported Evidence | 06/07/2018
RASA1 Noonan syndrome with multiple lentigines No Reported Evidence | 06/07/2018
RASA1 Costello syndrome No Reported Evidence | 06/07/2018
RASA1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/07/2018
RASA2 Noonan syndrome with multiple lentigines No Reported Evidence | 06/07/2018
RASA2 Costello syndrome No Reported Evidence | 06/07/2018
RASA2 cardiofaciocutaneous syndrome No Reported Evidence | 06/07/2018
RASA2 Noonan syndrome Limited | 07/24/2018
RASA2 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/07/2018
RDX nonsyndromic genetic deafness Definitive | 01/02/2018
RECQL familial ovarian cancer No Reported Evidence | 09/14/2016
RECQL hereditary breast carcinoma Moderate | 09/28/2016
RECQL4 Rothmund-Thomson syndrome Definitive | 10/11/2018
RET hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
RINT1 hereditary breast carcinoma Disputed | 09/26/2016
RINT1 familial ovarian cancer No Reported Evidence | 09/14/2016
RIPOR2 autosomal recessive nonsyndromic deafness Strong | 02/06/2017
RIT1 Costello syndrome No Reported Evidence | 07/24/2018
RIT1 Noonan syndrome Definitive | 07/24/2018
RIT1 cardiofaciocutaneous syndrome No Reported Evidence | 05/31/2018
RIT1 Noonan syndrome with multiple lentigines No Reported Evidence | 05/31/2018
RIT1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 05/31/2018
RNF43 sessile serrated polyposis cancer syndrome; SSPCS Limited | 10/23/2017
ROR1 nonsyndromic genetic deafness Limited | 03/20/2018
RPE65 Leber congenital amaurosis Definitive | 02/13/2018
RPE65 retinitis pigmentosa Moderate | 03/05/2018
RPL10 X-linked syndromic intellectual disability Limited | 04/27/2018
RPS10 Diamond-Blackfan anemia 9 Definitive | 01/19/2017
RPS20 hereditary nonpolyposis colon cancer Limited | 06/08/2017
RPS24 Diamond-Blackfan anemia Definitive | 01/19/2017
RRAS Costello syndrome No Reported Evidence | 06/06/2018
RRAS Noonan syndrome with multiple lentigines No Reported Evidence | 06/06/2018
RRAS cardiofaciocutaneous syndrome No Reported Evidence | 06/06/2018
RRAS Noonan syndrome Limited | 07/24/2018
RRAS Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/06/2018
RUNX1 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome Definitive | 06/04/2018
RYR2 catecholaminergic polymorphic ventricular tachycardia 1 Definitive | 03/08/2017
RYR2 hypertrophic cardiomyopathy Limited | 04/02/2018
RYR3 undetermined early-onset epileptic encephalopathy Limited | 06/28/2018
S1PR2 autosomal recessive nonsyndromic deafness 68 Strong | 03/02/2017
SCN10A Brugada syndrome 1 Disputed |
SCN1B Brugada syndrome 1 Disputed |
SCN2B Brugada syndrome 1 Disputed |
SCN3B Brugada syndrome 1 Disputed |
SCN4B familial long QT syndrome Limited | 12/15/2016
SCN5A Brugada syndrome Definitive |
SCN8A undetermined early-onset epileptic encephalopathy Definitive | 10/20/2017
SCN8A complex neurodevelopmental disorder Definitive | 07/18/2018
SCN9A epilepsy Limited | 06/15/2018
SDHA hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
SDHAF2 hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
SDHB hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
SDHC hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
SDHD hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
SEMA4A hereditary nonpolyposis colon cancer Limited | 11/13/2017
SERPINB8 exfoliative ichthyosis Limited | 07/06/2018
SHOC2 Noonan syndrome Disputed | 05/31/2018
SHOC2 Noonan syndrome with multiple lentigines No Reported Evidence | 06/01/2018
SHOC2 Costello syndrome Disputed | 07/24/2018
SHOC2 cardiofaciocutaneous syndrome Disputed | 06/01/2018
SHOC2 Noonan syndrome-like disorder with loose anagen hair Definitive | 07/25/2018
SIK1 early infantile epileptic encephalopathy Limited | 10/02/2018
SIX1 branchio-oto-renal syndrome Definitive | 06/22/2017
SIX5 branchio-oto-renal syndrome Disputed | 08/23/2018
SKI Shprintzen-Goldberg syndrome Definitive | 12/01/2016
SLC16A2 Allan-Herndon-Dudley syndrome Definitive | 08/09/2018
SLC17A8 nonsyndromic genetic deafness Strong | 09/12/2017
SLC22A5 systemic primary carnitine deficiency disease Definitive | 04/24/2018
SLC25A20 carnitine-acylcarnitine translocase deficiency Definitive | 05/22/2018
SLC25A4 mitochondrial DNA depletion syndrome 12 Definitive |
SLC26A4 Pendred syndrome Definitive | 08/02/2018
SLC26A5 nonsyndromic genetic deafness Limited | 12/19/2017
SLC2A10 familial thoracic aortic aneurysm and aortic dissection Limited | 04/17/2016
SLC52A1 maternal riboflavin deficiency Limited | 09/25/2018
SLC52A2 brown-Vialetto-van Laere syndrome 2 Definitive | 07/09/2018
SLC6A4 complex neurodevelopmental disorder Limited | 09/24/2018
SLC6A4 complex neurodevelopmental disorder Limited | 05/02/2018
SLC9A6 Christianson syndrome Definitive | 05/02/2018
SLITRK6 high myopia-sensorineural deafness syndrome Strong | 03/20/2018
SLMAP Brugada syndrome Disputed |
SLX4 hereditary breast carcinoma Limited | 03/08/2017
SLX4 familial ovarian cancer No Reported Evidence | 03/08/2017
SMAD2 familial thoracic aortic aneurysm and aortic dissection Moderate | 04/10/2017
SMAD3 familial thoracic aortic aneurysm and aortic dissection Definitive | 12/22/2016
SMAD3 aneurysm-osteoarthritis syndrome Definitive | 12/01/2016
SMAD4 generalized juvenile polyposis/juvenile polyposis coli Definitive | 06/26/2017
SMARCA1 Coffin-Siris syndrome Moderate | 11/15/2016
SMARCA4 hereditary nonpolyposis colon cancer Limited | 05/08/2017
SMARCA4 rhabdoid tumor predisposition syndrome 2 Definitive | 06/29/2018
SMARCB1 rhabdoid tumor predisposition syndrome 1 Definitive | 10/12/2018
SMPX nonsyndromic genetic deafness Definitive | 09/12/2017
SMS syndromic X-linked intellectual disability Snyder type Definitive | 05/16/2018
SNAI2 Waardenburg syndrome Limited | 08/23/2018
SOS1 Noonan syndrome Definitive | 07/24/2018
SOS1 Costello syndrome Disputed | 07/24/2018
SOS1 cardiofaciocutaneous syndrome Disputed | 06/01/2018
SOS1 Noonan syndrome with multiple lentigines No Reported Evidence | 06/01/2018
SOS1 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/01/2018
SOS2 cardiofaciocutaneous syndrome No Reported Evidence | 06/06/2018
SOS2 Noonan syndrome with multiple lentigines No Reported Evidence | 06/06/2018
SOS2 Costello syndrome No Reported Evidence | 06/06/2018
SOS2 Noonan syndrome-like disorder with loose anagen hair No Reported Evidence | 06/06/2018
SOS2 Noonan syndrome Moderate | 07/25/2018
SOX10 Waardenburg syndrome type 4C Definitive | 06/19/2018
SRPX2 rolandic epilepsy-speech dyspraxia syndrome Disputed | 07/19/2018
STK11 Peutz-Jeghers syndrome Definitive | 02/22/2017
STK11 familial ovarian cancer No Reported Evidence | 10/26/2016
STRC nonsyndromic genetic deafness Definitive | 12/19/2017
STXBP1 infantile epilepsy syndrome Definitive | 06/01/2018
SUFU medulloblastoma Definitive | 10/11/2018
SYNE4 nonsyndromic genetic deafness Moderate | 09/08/2017
SYP non-syndromic X-linked intellectual disability Limited | 12/20/2017
TBC1D24 nonsyndromic genetic deafness Limited | 03/27/2018
TCAP hypertrophic cardiomyopathy Limited | 04/10/2017
TCF4 Pitt-Hopkins syndrome Definitive | 05/02/2018
TECTA nonsyndromic genetic deafness Definitive | 09/12/2018
TECTA nonsyndromic genetic deafness Definitive | 01/02/2018
TGFB2 familial thoracic aortic aneurysm and aortic dissection Definitive | 05/06/2016
TGFB3 familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
TGFBR1 familial thoracic aortic aneurysm and aortic dissection Definitive | 10/12/2016
TGFBR2 familial thoracic aortic aneurysm and aortic dissection Definitive | 02/15/2016
TIMM8A deafness dystonia syndrome Definitive | 12/19/2017
TJP2 nonsyndromic genetic deafness Limited | 12/19/2017
TMC1 nonsyndromic genetic deafness Definitive | 06/22/2018
TMC1 autosomal recessive nonsyndromic deafness 7 Definitive | 02/15/2017
TMEM127 hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
TMEM132E autosomal recessive nonsyndromic deafness Limited | 11/21/2017
TMIE nonsyndromic genetic deafness Definitive | 09/29/2017
TMPO familial isolated dilated cardiomyopathy Refuted | 11/30/2016
TMPO hypertrophic cardiomyopathy No Reported Evidence | 08/01/2018
TMPRSS3 nonsyndromic genetic deafness Definitive | 08/22/2017
TMTC2 nonsyndromic genetic deafness Disputed | 08/22/2018
TNC nonsyndromic genetic deafness Limited | 03/20/2018
TNNC1 hypertrophic cardiomyopathy Moderate | 11/01/2016
TNNC2 hypertrophic cardiomyopathy No Reported Evidence | 04/04/2017
TNNI3 hypertrophic cardiomyopathy Definitive | 09/05/2017
TNNT2 hypertrophic cardiomyopathy Definitive | 11/07/2017
TP53 Li-Fraumeni syndrome Definitive | 01/10/2018
TP53 familial ovarian cancer Limited | 01/10/2018
TPM1 hypertrophic cardiomyopathy Definitive | 12/20/2016
TPRN nonsyndromic genetic deafness Definitive | 09/12/2017
TRIM63 hypertrophic cardiomyopathy Limited | 08/01/2018
TRIOBP autosomal recessive nonsyndromic deafness Definitive | 06/06/2017
TRPM4 Brugada syndrome Disputed |
TSC1 tuberous sclerosis 1 Definitive | 03/01/2017
TSC2 tuberous sclerosis 1 Definitive | 03/08/2017
TSPAN7 intellectual disability, X-linked 58 Limited | 02/08/2018
TTN hypertrophic cardiomyopathy Limited | 12/14/2017
TTR hereditary ATTR amyloidosis Definitive | 12/11/2017
TUBB4B Leber congenital amaurosis with early-onset deafness Moderate | 06/26/2018
UBE2A syndromic X-linked intellectual disability Nascimento type Definitive | 07/13/2018
UBE3A Angelman syndrome Definitive | 05/02/2018
USH1C Usher syndrome type 1 Definitive | 02/15/2017
USH1G Usher syndrome type 1 Definitive | 02/15/2017
USH2A Usher syndrome type 2 Definitive | 02/15/2017
VCL hypertrophic cardiomyopathy Limited | 06/01/2017
VHL hereditary pheochromocytoma-paraganglioma Definitive | 06/16/2017
VPS13B Cohen syndrome Definitive | 08/15/2018
VPS8 arthrogryposis multiplex congenita Limited | 11/24/2016
WAS Wiskott-Aldrich syndrome Definitive | 10/12/2018
WFS1 Wolfram syndrome Definitive | 09/11/2018
WHRN Usher syndrome type 2D Definitive | 05/10/2017
WRAP53 dyskeratosis congenita Moderate | 01/25/2017
WRN Werner syndrome Definitive | 10/09/2018
XRCC2 hereditary breast carcinoma Limited | 05/10/2017
XRCC2 familial ovarian cancer No Reported Evidence | 04/26/2017
XRCC4 hereditary nonpolyposis colon cancer Limited | 05/08/2017
ZEB2 Mowat-Wilson syndrome Definitive | 05/24/2018
ZNF81 non-syndromic X-linked intellectual disability Disputed | 06/28/2018

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