| RS2470805627 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470805707 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470806120 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470806352 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470806374 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470806442 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470806477 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470806686 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470806854 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470806935 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470807328 |
TRIP12
|
Health Risk |
Likely pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2470807543 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470807557 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470808380 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470808618 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470809460 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2470813471 |
COLQ
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470817715 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470818301 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2470818553 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470822562 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470825988 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470826359 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470828749 |
COLQ
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome, Congenital myasthenic syndrome |
| RS2470828785 |
COLQ
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470828873 |
COLQ
|
Health Risk |
Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS2470828887 |
COLQ
|
Health Risk |
Likely pathogenic |
Synaptic congenital myasthenic syndromes, Synaptic congenital myasthenic syndromes |
| RS2470829028 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470829078 |
COLQ
|
Health Risk |
Pathogenic |
Synaptic congenital myasthenic syndromes, Synaptic congenital myasthenic syndromes |
| RS2470829140 |
CTNNB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470829269 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470829733 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470831994 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470834823 |
CTNNB1;LOC126806659
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470835326 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470837860 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470838784 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2470840049 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470840846 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470841202 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470841746 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470841807 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470842027 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470842186 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470842274 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470842418 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470842445 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2470842570 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470842683 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2470842772 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470842923 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470842942 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470843051 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470843076 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470843357 |
CTNNB1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2470843366 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470843414 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470844085 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470844128 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470844224 |
DNAH6
|
Health Risk |
Likely pathogenic |
Ciliary dyskinesia, primary |
| RS2470846924 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470846943 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470847019 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470847034 |
CTNNB1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2470847156 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470847228 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470847361 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470848814 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470848872 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470849092 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470849136 |
POC1A
|
Health Risk |
Likely pathogenic |
— |
| RS2470849345 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470849538 |
HYAL1
|
Health Risk |
Likely pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470849730 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470850103 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2470850104 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470850119 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470850580 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470850582 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470850881 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470851448 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470851514 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470851637 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470851875 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470852095 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470852170 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470852349 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470853311 |
HYAL1
|
Health Risk |
Pathogenic |
Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase |
| RS2470853390 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470857118 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470857313 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470857399 |
CTNNB1
|
Health Risk |
Pathogenic |
CTNNB1-related disorder, CTNNB1-related disorder |
| RS2470857414 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470862951 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2470863944 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470864022 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470867588 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470867659 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470867807 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470868133 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |