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Gene Validity Curations

Gene Disease curated Classification
ABCD1 X-linked cerebral adrenoleukodystrophy Definitive | 02/07/2018
ACSL4 X-linked non-syndromic intellectual disability Moderate | 10/20/2017
ACTA2 Familial thoracic aortic aneurysm and aortic dissection Definitive | 09/27/2016
ACTC1 Hypertrophic cardiomyopathy Definitive | 10/23/2017
ADCY1 Autosomal recessive non-syndromic sensorineural deafness type DFNB Limited | 05/10/2017
ADGRV1 Usher syndrome type 2 Definitive | 02/15/2017
AFF2 X-linked non-syndromic intellectual disability Definitive | 10/20/2017
AGTR2 X-linked non-syndromic intellectual disability Disputed | 11/16/2016
AKAP9 long QT syndrome 11 Limited | 12/15/2016
ALMS1 Alstrom syndrome Definitive | 02/10/2017
ALPK3 Hypertrophic cardiomyopathy Strong | 02/07/2017
AP1S2 X-linked non-syndromic intellectual disability Definitive | 10/20/2017
ATF6 achromatopsia 7 Strong | 11/16/2016
ATP7A Menkes disease Definitive | 02/07/2018
ATRX X-linked intellectual disability-hypotonic face syndrome Definitive | 02/07/2018
AXIN2 Hereditary nonpolyposis colon cancer Moderate | 06/08/2017
BAG3 myofibrillar myopathy 6 Definitive | 12/18/2016
BAP1 Hereditary pheochromocytoma-paraganglioma Limited | 07/22/2017
BARD1 Hereditary nonpolyposis colon cancer Limited | 06/08/2017
BGN Familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
BRAF Cardiofaciocutaneous syndrome Definitive | 06/13/2017
BRAF Costello syndrome No Reported Evidence | 11/27/2017
C1QB C1Q Deficiency Definitive | 01/09/2017
CD3E Severe combined immunodeficiency Definitive | 01/09/2017
CDH1 Familial ovarian cancer No Reported Evidence | 08/03/2017
CDH1 Hereditary nonpolyposis colon cancer Limited | 06/08/2017
CDH1 Hereditary breast cancer Definitive | 08/03/2017
CDH23 Usher syndrome type 1 Definitive | 01/30/2017
CDKN1B NTHL1-related attenuated familial adenomatous polyposis Limited | 06/08/2017
CEP78 Cone-Rod Dystrophy and Hearing Loss; CRDHL Strong | 04/12/2017
CHD1L Renal or urinary tract malformation Limited | 11/18/2016
CHEK1 Familial ovarian cancer No Reported Evidence | 10/12/2016
CHEK1 Hereditary breast cancer No Reported Evidence | 10/12/2016
CHEK2 Hereditary breast cancer Definitive | 12/14/2016
CHEK2 Familial ovarian cancer Disputed | 12/14/2016
CLCN4 X-linked non-syndromic intellectual disability Definitive | 10/20/2017
CLRN1 Usher syndrome type 3 Definitive | 03/02/2017
COL2A1 Spondyloepiphyseal dysplasia, Stanescu type Moderate | 12/01/2016
COL3A1 Familial thoracic aortic aneurysm and aortic dissection Definitive | 03/14/2016
COX15 Leigh syndrome Strong |
CRYM autosomal dominant nonsyndromic deafness 40 Limited | 04/12/2017
DICER1 pleuropulmonary blastoma Definitive | 01/08/2017
DMXL2 Autosomal recessive non-syndromic sensorineural deafness type DFNB Moderate | 02/06/2017
DNM1 Early infantile epileptic encephalopathy Definitive | 12/13/2016
DNMT1 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Definitive | 02/10/2017
EFEMP2 Familial thoracic aortic aneurysm and aortic dissection Moderate | 12/22/2016
EGLN1 Hereditary pheochromocytoma-paraganglioma Moderate | 06/22/2017
EGLN2 Hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
ELMOD3 Autosomal recessive non-syndromic sensorineural deafness type DFNB Limited | 05/04/2017
EPAS1 Hereditary pheochromocytoma-paraganglioma Disputed | 06/22/2017
EPCAM Familial ovarian cancer No Reported Evidence | 04/12/2017
EPCAM Hereditary breast cancer No Reported Evidence | 04/12/2017
EPHX1 Hereditary nonpolyposis colon cancer Limited | 06/08/2017
EXO1 Hereditary nonpolyposis colon cancer Limited | 06/08/2017
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 syndrome Definitive | 12/06/2017
FGFR3 achondroplasia Definitive | 12/01/2016
FH Hereditary pheochromocytoma-paraganglioma Moderate | 06/22/2017
FLNA Familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
FOLR1 Neurodegenerative syndrome due to cerebral folate transport deficiency Definitive | 10/20/2017
FOXE3 Familial thoracic aortic aneurysm and aortic dissection Moderate | 06/15/2016
FTSJ1 X-linked non-syndromic intellectual disability Moderate | 01/17/2018
GALNT12 susceptibility to colorectal cancer 1 Limited | 06/08/2017
GDI1 X-linked non-syndromic intellectual disability Definitive | 10/20/2017
GDNF Hereditary pheochromocytoma-paraganglioma Limited | 07/22/2017
GEN1 Familial ovarian cancer No Reported Evidence | 01/11/2017
GJB2 Autosomal recessive non-syndromic sensorineural deafness type DFNB Definitive | 03/02/2017
GREM1 Genetic intestinal polyposis Strong | 06/08/2017
GRIA3 X-linked non-syndromic intellectual disability Limited | 10/20/2017
GRIN2A Early infantile epileptic encephalopathy Definitive | 12/13/2016
HCN4 Familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
HNRNPK Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation Moderate | 11/15/2016
HRAS Costello syndrome Definitive | 06/13/2017
HUWE1 X-linked non-syndromic intellectual disability Definitive | 10/20/2017
IL1RAPL1 Mental Retardation, X-Linked 21 Definitive | 01/03/2018
JPH2 hypertrophic cardiomyopathy 17 Moderate | 07/18/2017
KIF1B Hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
KLF10 Hypertrophic cardiomyopathy Limited | 08/01/2017
KMT2D Hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
KRAS Noonan syndrome 3 Definitive | 06/20/2017
KRAS Costello syndrome No Reported Evidence | 11/27/2017
LAMB1 Cobblestone lissencephaly without muscular or ocular involvement Moderate | 11/15/2016
LBR Regressive spondylometaphyseal dysplasia Moderate | 12/01/2016
LOX Familial thoracic aortic aneurysm and aortic dissection Strong | 07/25/2016
LRTOMT autosomal recessive nonsyndromic deafness 63 Definitive | 02/15/2017
MAP2K1 Cardiofaciocutaneous Syndrome 3 Definitive | 11/27/2017
MAP2K1 Costello syndrome No Reported Evidence | 11/27/2017
MAP2K2 Noonan syndrome with multiple lentigines No Reported Evidence | 11/27/2017
MAP2K2 Cardiofaciocutaneous syndrome Definitive | 11/27/2017
MAT2A Familial thoracic aortic aneurysm and aortic dissection Limited | 07/03/2016
MAX Hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
MCM2 Autosomal dominant non-syndromic sensorineural deafness type DFNA Limited | 03/29/2017
MCPH1 Familial ovarian cancer No Reported Evidence | 01/11/2017
MCPH1 Hereditary breast cancer Limited | 01/11/2017
MDH2 Hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
MEN1 Hereditary pheochromocytoma-paraganglioma Moderate | 06/22/2017
MERTK Hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
MET Hereditary pheochromocytoma-paraganglioma Limited | 06/02/2017
MFAP5 Familial thoracic aortic aneurysm and aortic dissection Moderate | 12/22/2016
MITF Hereditary pheochromocytoma-paraganglioma Limited | 06/22/2017
MLH1 Hereditary breast cancer Disputed | 06/14/2017
MSH3 Genetic intestinal polyposis Moderate | 06/08/2017
MYH11 Familial thoracic aortic aneurysm and aortic dissection Definitive | 07/03/2016
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
MYO9A Arthrogryposis syndrome Limited | 11/24/2016
NEXN hypertrophic cardiomyopathy 20 Limited | 11/01/2016
NF1 Neurofibromatosis type 1 Definitive | 06/22/2017
NF2 Neurofibromatosis type 2 Definitive | 03/01/2017
NGLY1 NGLY1-deficiency Definitive | 12/01/2016
NHP2 Dyskeratosis congenita Limited | 01/25/2017
NHS Nance-Horan syndrome Definitive | 10/20/2017
NOTCH1 Familial thoracic aortic aneurysm and aortic dissection Limited | 04/06/2016
NRAS Noonan syndrome 6 Definitive | 05/26/2017
NTHL1 Hereditary nonpolyposis colon cancer Moderate | 06/08/2017
OTOF autosomal recessive nonsyndromic deafness 9 Definitive | 01/30/2017
PALB2 Breast Cancer Definitive | 12/01/2016
PCDH15 Usher syndrome type 1F Definitive | 02/15/2017
PDZD7 Autosomal recessive non-syndromic sensorineural deafness type DFNB Definitive | 04/26/2017
PIK3CA Familial ovarian cancer No Reported Evidence | 02/08/2017
PIK3CA Hereditary breast cancer No Reported Evidence | 02/08/2017
PKP2 arrhythmogenic right ventricular dysplasia 9 Definitive | 03/08/2017
PLN hypertrophic cardiomyopathy 3 Definitive | 09/19/2017
PNPT1 autosomal recessive nonsyndromic deafness 70 Limited | 02/23/2017
POLD1 Hereditary nonpolyposis colon cancer Strong | 06/08/2017
POLE Hereditary nonpolyposis colon cancer Definitive | 06/08/2017
PRKG1 Familial thoracic aortic aneurysm and aortic dissection Strong | 12/22/2016
PSD3 Antecubital pterygium syndrome Limited | 11/24/2016
PTPN11 Leopard Syndrome 1 Definitive | 05/25/2017
PTPN11 Noonan syndrome Definitive | 05/25/2017
PTPRQ Autosomal recessive non-syndromic sensorineural deafness type DFNB Definitive | 02/23/2017
RAD50 Hereditary breast cancer Limited | 12/14/2016
RAD51C Fanconi anemia Moderate | 01/05/2017
RAD51C Hereditary breast cancer Disputed | 05/10/2017
RAD51C Familial ovarian cancer Definitive | 04/12/2017
RAD51D susceptibility to familial breast-ovarian cancer 4 Limited | 12/01/2016
RAF1 Leopard Syndrome 2 Moderate | 06/20/2017
RAF1 Noonan syndrome Definitive | 06/20/2017
RASA1 Noonan syndrome No Reported Evidence | 12/04/2017
RECQL Hereditary breast cancer Moderate | 09/28/2016
RECQL Familial ovarian cancer No Reported Evidence | 09/14/2016
RET Hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
RINT1 Familial ovarian cancer No Reported Evidence | 09/14/2016
RINT1 Hereditary breast cancer Disputed | 09/26/2016
RIPOR2 autosomal recessive nonsyndromic deafness 104 Strong | 02/06/2017
RIT1 Noonan syndrome 8 Definitive | 06/13/2017
RPE65 Leber congenital amaurosis 2 Definitive | 02/13/2018
RPS10 Diamond-Blackfan Anemia 9 Definitive | 01/19/2017
RPS20 Hereditary nonpolyposis colon cancer Limited | 06/08/2017
RPS24 Blackfan-Diamond anemia Definitive | 01/19/2017
RYR2 catecholaminergic polymorphic ventricular tachycardia 1 Definitive | 03/08/2017
S1PR2 autosomal recessive nonsyndromic deafness 68 Strong | 03/02/2017
SCN4B Familial long QT syndrome Limited | 12/15/2016
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
SKI Shprintzen-Goldberg syndrome Definitive | 12/01/2016
SLC2A10 Familial thoracic aortic aneurysm and aortic dissection Limited | 04/17/2016
SLX4 Breast Cancer No Reported Evidence | 03/08/2017
SMAD2 Familial thoracic aortic aneurysm and aortic dissection Limited | 12/22/2016
SMAD3 Familial thoracic aortic aneurysm and aortic dissection Definitive | 12/22/2016
SMAD3 Aneurysm-osteoarthritis syndrome Definitive | 12/01/2016
SMARCA1 Coffin-Siris syndrome Moderate | 11/15/2016
SOS1 Noonan syndrome Definitive | 06/20/2017
SOS2 Noonan syndrome 9 Moderate | 12/05/2016
STK11 Familial ovarian cancer No Reported Evidence | 10/26/2016
SYP X-linked non-syndromic intellectual disability Limited | 12/20/2017
TCAP hypertrophic cardiomyopathy 25 Limited | 04/10/2017
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
TMC1 autosomal recessive nonsyndromic deafness 7 Definitive | 02/15/2017
TMEM127 Hereditary pheochromocytoma-paraganglioma Definitive | 06/22/2017
TMPO dilated cardiomyopathy 1T Refuted | 11/30/2016
TNNC1 hypertrophic cardiomyopathy 13 Moderate | 11/01/2016
TNNC2 Hypertrophic cardiomyopathy No Reported Evidence | 04/04/2017
TNNI3 Hypertrophic cardiomyopathy Definitive | 09/05/2017
TNNT2 hypertrophic cardiomyopathy 2 Definitive | 11/07/2017
TPM1 Hypertrophic cardiomyopathy Definitive | 12/20/2016
TSC1 Tuberous Sclerosis 1 Definitive | 03/01/2017
TSC2 Tuberous Sclerosis 1 Definitive | 03/08/2017
TSPAN7 Mental Retardation, X-Linked 58 Limited | 02/08/2018
USH1C Usher syndrome type 1 Definitive | 02/15/2017
USH1G Usher syndrome type 1G Definitive | 02/15/2017
USH2A Usher syndrome type 2A Definitive | 02/15/2017
VCL hypertrophic cardiomyopathy 15 Limited | 06/01/2017
VHL Hereditary pheochromocytoma-paraganglioma Definitive | 06/16/2017
VPS8 Arthrogryposis, Distal, Type 1A Limited | 11/24/2016
WHRN Usher syndrome type 2 Definitive | 05/10/2017
WRAP53 Dyskeratosis Congenita, Autosomal Recessive 3 Moderate | 01/25/2017
XRCC2 Familial ovarian cancer No Reported Evidence | 04/26/2017

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