| RS104894327 |
AICDA
|
Health Risk |
Pathogenic |
Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2 |
| RS104894328 |
AQP2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894329 |
AQP2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894330 |
AQP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894331 |
AQP2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894332 |
AQP2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894333 |
AQP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894334 |
AQP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894335 |
AQP2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894337 |
AQP2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894338 |
AQP2
|
Health Risk |
Pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894339 |
AQP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894340 |
CDK4
|
Health Risk |
Pathogenic |
Melanoma, cutaneous malignant |
| RS104894341 |
AQP2
|
Health Risk |
Likely pathogenic |
Diabetes insipidus, nephrogenic |
| RS104894342 |
FGF23
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumoral calcinosis, hyperphosphatemic |
| RS104894343 |
FGF23
|
Health Risk |
Pathogenic |
Tumoral calcinosis, hyperphosphatemic |
| RS104894344 |
FGF23
|
Health Risk |
Pathogenic |
Tumoral calcinosis, hyperphosphatemic |
| RS104894345 |
HSPB8
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS104894346 |
DHH
|
Health Risk |
Pathogenic |
46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome |
| RS104894347 |
FGF23
|
Health Risk |
Pathogenic |
Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets |
| RS104894348 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894349 |
KCNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Episodic ataxia type 1, Inborn genetic diseases |
| RS104894351 |
HSPB8
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS104894352 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894353 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894354 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894355 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894356 |
KCNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894357 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894358 |
KCNA1
|
Health Risk |
Pathogenic |
Episodic ataxia type 1, Episodic ataxia type 1 |
| RS104894359 |
KRAS
|
Health Risk |
Pathogenic |
Cardiofaciocutaneous syndrome 2, RASopathy |
| RS104894360 |
KRAS
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiofaciocutaneous syndrome 2, Noonan syndrome 3 |
| RS104894361 |
KRAS
|
Health Risk |
Pathogenic |
Cardiofaciocutaneous syndrome 2, Inborn genetic diseases |
| RS104894362 |
KRAS
|
Health Risk |
Pathogenic |
Cardiofaciocutaneous syndrome 2, RASopathy |
| RS104894363 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 10, Primary familial hypertrophic cardiomyopathy |
| RS104894364 |
KRAS
|
Health Risk |
Pathogenic |
Noonan syndrome 3, Noonan syndrome |
| RS104894365 |
KRAS
|
Health Risk |
Pathogenic |
Noonan syndrome 3, Endometrial carcinoma |
| RS104894366 |
KRAS
|
Health Risk |
Likely pathogenic |
Cardiofaciocutaneous syndrome 2, Cardio-facio-cutaneous syndrome |
| RS104894367 |
KRAS
|
Health Risk |
Pathogenic |
Noonan syndrome 3, Noonan syndrome 3 |
| RS104894368 |
MYL2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 10, Death in early adulthood |
| RS104894369 |
MYL2
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 10, Primary familial hypertrophic cardiomyopathy |
| RS104894370 |
MYL2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy 10, Cardiovascular phenotype |
| RS104894371 |
PUS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Myopathy, lactic acidosis |
| RS104894372 |
PUS1
|
Health Risk |
Pathogenic |
Myopathy, lactic acidosis |
| RS104894373 |
RDH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Fundus albipunctatus, autosomal recessive |
| RS104894374 |
RDH5
|
Health Risk |
Pathogenic |
Fundus albipunctatus, autosomal recessive |
| RS104894375 |
SLC25A3
|
Health Risk |
Pathogenic |
Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| RS104894376 |
TBX3
|
Health Risk |
Pathogenic |
Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS104894377 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894378 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, Aortic valve disease 2 |
| RS104894379 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, TBX5-related disorder |
| RS104894380 |
UNG
|
Health Risk |
Pathogenic |
Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5 |
| RS104894381 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894382 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, Heart |
| RS104894383 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894384 |
TBX5
|
Health Risk |
Pathogenic |
Holt-Oram syndrome, Holt-Oram syndrome |
| RS104894385 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS104894386 |
CLN5
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS104894387 |
EDNRB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hirschsprung disease, susceptibility to |
| RS104894388 |
EDNRB
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS104894389 |
EDNRB
|
Health Risk |
risk factor |
Hirschsprung disease, susceptibility to |
| RS104894390 |
EDNRB
|
Health Risk |
Pathogenic/Likely pathogenic |
Waardenburg syndrome type 4A, Waardenburg syndrome type 4A |
| RS104894391 |
EDNRB
|
Health Risk |
Pathogenic |
ABCD syndrome, Waardenburg syndrome type 4A |
| RS104894392 |
F10
|
Health Risk |
Pathogenic |
Factor X deficiency, Factor X deficiency |
| RS104894393 |
FGF14
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A |
| RS104894395 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS104894396 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS104894397 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Rare genetic deafness |
| RS104894398 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS104894401 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS104894402 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, Rare genetic deafness |
| RS104894403 |
GJB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hearing loss, Mutilating keratoderma |
| RS104894404 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Palmoplantar keratoderma-deafness syndrome, Rare genetic deafness |
| RS104894406 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS104894407 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, Hearing impairment |
| RS104894408 |
GJB2
|
Health Risk |
Likely pathogenic |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Nonsyndromic genetic hearing loss |
| RS104894409 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Hearing impairment |
| RS104894410 |
GJB2
|
Health Risk |
Pathogenic |
Knuckle pads, deafness AND leukonychia syndrome |
| RS104894412 |
GJB2
|
Health Risk |
Pathogenic |
Knuckle pads, deafness AND leukonychia syndrome |
| RS104894413 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, Inborn genetic diseases |
| RS104894414 |
GJB6
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 3B, Autosomal dominant nonsyndromic hearing loss 3B |
| RS104894415 |
GJB6
|
Health Risk |
Pathogenic |
Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B |
| RS104894416 |
GJB6
|
Health Risk |
Pathogenic |
Hidrotic ectodermal dysplasia syndrome, Hidrotic ectodermal dysplasia syndrome |
| RS104894417 |
ITM2B
|
Health Risk |
Pathogenic |
ABri amyloidosis, ABri amyloidosis |
| RS104894418 |
LIG4
|
Health Risk |
Pathogenic/Likely pathogenic |
DNA ligase IV deficiency, Multiple myeloma |
| RS104894419 |
LIG4
|
Health Risk |
Pathogenic/Likely pathogenic |
DNA ligase IV deficiency, Inborn genetic diseases |
| RS104894420 |
LIG4
|
Health Risk |
Pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS104894421 |
LIG4
|
Health Risk |
Likely pathogenic |
DNA ligase IV deficiency, Severe combined immunodeficiency disease |
| RS104894422 |
SGCG
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS104894423 |
SGCG
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy |
| RS104894424 |
SLC25A15
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS104894425 |
EIF2B2
|
Health Risk |
Pathogenic |
Vanishing white matter disease, See cases |
| RS104894426 |
EIF2B2
|
Health Risk |
Pathogenic/Likely pathogenic |
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2 |
| RS104894427 |
EIF2B2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with vanishing white matter 2, Leukoencephalopathy with vanishing white matter 2 |
| RS104894428 |
EIF2B2
|
Health Risk |
Pathogenic/Likely pathogenic |
Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease |
| RS104894429 |
SLC25A15
|
Health Risk |
Pathogenic |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, SLC25A15-related disorder |
| RS104894430 |
SLC25A15
|
Health Risk |
Pathogenic/Likely pathogenic |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS104894431 |
SLC25A15
|
Health Risk |
Likely pathogenic |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS104894433 |
GCH1
|
Health Risk |
Pathogenic |
Dystonia 5, Dystonia 5 |
| RS104894434 |
GCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
GTP cyclohydrolase I deficiency, Dystonia 5 |