ClinGen / Knowledge Base
Logo
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
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
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
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 | 07/11/2018
BDP1 autosomal recessive nonsyndromic deafness Limited | 06/13/2018
BGN familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
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 autosomal recessive nonsyndromic deafness Strong | 06/01/2018
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 autosomal dominant nonsyndromic deafness Limited | 07/03/2018
CD164 autosomal dominant nonsyndromic deafness 66 Limited | 03/20/2018
CD164 autosomal dominant nonsyndromic deafness Limited | 05/23/2018
CD3E severe combined immunodeficiency (disease) Definitive | 01/09/2017
CDH1 hereditary nonpolyposis colon cancer Limited | 06/08/2017
CDH1 hereditary diffuse gastric cancer Definitive | 01/25/2017
CDH1 familial ovarian cancer No Reported Evidence | 08/03/2017
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 autosomal dominant nonsyndromic deafness Moderate | 06/01/2018
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 autosomal recessive nonsyndromic deafness Definitive | 07/26/2018
CISD2 Wolfram syndrome Strong | 05/23/2018
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 | 07/10/2018
CLRN1 Usher syndrome type 3 Definitive | 03/02/2017
COCH autosomal dominant nonsyndromic deafness Definitive | 07/25/2018
COL11A2 Stickler syndrome Moderate | 06/12/2018
COL11A2 autosomal recessive nonsyndromic deafness Limited | 06/12/2018
COL11A2 Stickler syndrome Definitive | 06/12/2018
COL11A2 autosomal dominant nonsyndromic deafness Limited | 06/12/2018
COL2A1 spondyloepiphyseal dysplasia, Stanescu type Moderate | 12/01/2016
COL3A1 familial thoracic aortic aneurysm and aortic dissection Definitive | 03/14/2016
COL9A1 Stickler syndrome Limited | 03/26/2018
COX15 Leigh syndrome Strong |
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 autosomal recessive nonsyndromic deafness Limited | 06/08/2018
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 autosomal dominant nonsyndromic deafness 64 Limited | 07/05/2018
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 | 09/11/2018
EDN3 Waardenburg syndrome type 4B Moderate | 05/30/2018
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
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 autosomal recessive nonsyndromic deafness Moderate | 07/19/2018
ESPN autosomal recessive nonsyndromic deafness 36 Definitive | 07/11/2018
ESPN nonsyndromic genetic deafness Limited | 09/20/2018
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 autosomal dominant nonsyndromic deafness Definitive | 07/27/2018
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
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 autosomal recessive nonsyndromic deafness Strong | 06/08/2018
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
GLA Fabry disease Definitive | 01/19/2018
GPD1L Brugada syndrome 1 Disputed |
GREM1 hereditary mixed polyposis syndrome Strong | 10/11/2016
GRHL2 autosomal dominant nonsyndromic deafness Strong | 09/11/2018
GRIA3 non-syndromic X-linked intellectual disability Limited | 10/20/2017
GRIN2D infantile epilepsy syndrome Limited | 07/06/2018
GRXCR2 autosomal recessive nonsyndromic deafness Limited | 06/08/2018
GSDME autosomal dominant nonsyndromic deafness Definitive | 07/19/2018
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 autosomal recessive nonsyndromic deafness Moderate | 06/27/2018
HNRNPK neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Moderate | 11/15/2016
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
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 autosomal recessive nonsyndromic deafness 42 Definitive | 08/02/2018
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 autosomal dominant nonsyndromic deafness Definitive | 09/11/2018
KCNT1 malignant migrating partial seizures of infancy Definitive |
KIF1B hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
KITLG autosomal dominant nonsyndromic deafness Limited | 07/03/2018
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
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 nonsyndromic genetic deafness Limited | 08/23/2018
MET hereditary pheochromocytoma-paraganglioma Limited | 06/02/2017
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
MLH3 hereditary nonpolyposis colon cancer Moderate | 02/14/2017
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
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
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 autosomal dominant nonsyndromic deafness Refuted | 07/05/2018
MYO1C autosomal dominant nonsyndromic deafness Disputed | 06/28/2018
MYO1F nonsyndromic genetic deafness Disputed | 08/22/2018
MYO6 autosomal dominant nonsyndromic deafness Strong | 06/01/2018
MYO7A Usher syndrome type 1 Definitive | 06/29/2018
MYO7A nonsyndromic genetic deafness Definitive | 08/29/2018
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
NARS2 autosomal recessive nonsyndromic deafness Limited | 08/02/2018
NBN hereditary breast carcinoma Limited | 09/27/2017
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
NTHL1 NTHL1-related attenuated familial adenomatous polyposis Moderate | 06/08/2017
OBSCN hypertrophic cardiomyopathy Limited | 08/06/2018
OFD1 ciliopathy Definitive | 04/27/2018
OTOF autosomal recessive nonsyndromic deafness 9 Definitive | 01/30/2017
OTOG autosomal recessive nonsyndromic deafness Definitive | 06/28/2018
OTOGL autosomal recessive nonsyndromic deafness Definitive | 07/27/2018
P2RX2 autosomal dominant nonsyndromic deafness Moderate | 05/25/2018
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
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 X-linked nonsyndromic deafness Definitive | 07/10/2018
POU4F3 autosomal dominant nonsyndromic deafness Definitive | 08/03/2018
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
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
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
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 autosomal recessive nonsyndromic deafness Definitive | 07/19/2018
RECQL familial ovarian cancer No Reported Evidence | 09/14/2016
RECQL hereditary breast carcinoma Moderate | 09/28/2016
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 autosomal recessive nonsyndromic deafness Limited | 05/23/2018
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
SIX1 branchio-oto-renal syndrome Definitive | 07/18/2018
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
SLC25A4 mitochondrial DNA depletion syndrome 12 Definitive |
SLC26A4 Pendred syndrome Definitive | 08/02/2018
SLC26A5 autosomal recessive nonsyndromic deafness 61 Limited | 07/25/2018
SLC2A10 familial thoracic aortic aneurysm and aortic dissection Limited | 04/17/2016
SLC52A2 brown-Vialetto-van Laere syndrome 2 Definitive | 07/11/2018
SLC6A4 complex neurodevelopmental disorder Limited | 09/24/2018
SLC9A6 Christianson syndrome Definitive | 05/02/2018
SLITRK6 high myopia-sensorineural deafness syndrome Strong | 05/23/2018
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
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
STXBP1 infantile epilepsy syndrome Definitive | 06/01/2018
SYP non-syndromic X-linked intellectual disability Limited | 12/20/2017
TBC1D24 autosomal dominant nonsyndromic deafness Limited | 05/23/2018
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 | 09/12/2018
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
TJP2 autosomal dominant nonsyndromic deafness Limited | 08/29/2018
TMC1 autosomal dominant nonsyndromic deafness 36 Definitive | 07/16/2018
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
TMPO familial isolated dilated cardiomyopathy Refuted | 11/30/2016
TMPO hypertrophic cardiomyopathy No Reported Evidence | 08/01/2018
TMPRSS3 autosomal recessive nonsyndromic deafness 8 Definitive | 07/11/2018
TMTC2 nonsyndromic genetic deafness Disputed | 08/22/2018
TNC autosomal dominant nonsyndromic deafness Limited | 05/23/2018
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
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
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
WFS1 Wolfram syndrome Definitive | 09/11/2018
WHRN Usher syndrome type 2D Definitive | 05/10/2017
WRAP53 dyskeratosis congenita Moderate | 01/25/2017
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

About ClinGen
Resources & Tools
GenomeConnect
How to share your data
Learn about ClinGen curation activities
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
  • © 2017 ClinGen - All rights reserved