| RS397516292 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11 |
| RS397516293 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1 |
| RS397516294 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS397516295 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516300 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS397516301 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Rare genetic deafness |
| RS397516302 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516303 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Usher syndrome type 1B |
| RS397516304 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome |
| RS397516305 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1B, Usher syndrome type 1B |
| RS397516308 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Retinal dystrophy |
| RS397516309 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1 |
| RS397516310 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Inborn genetic diseases |
| RS397516311 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516312 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS397516315 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516316 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Rare genetic deafness |
| RS397516317 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516320 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS397516321 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516322 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516323 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS397516324 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Hearing impairment |
| RS397516325 |
MYO7A
|
Health Risk |
Likely pathogenic |
— |
| RS397516326 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Rare genetic deafness |
| RS397516327 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1B, Usher syndrome type 1B |
| RS397516328 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1B, MYO7A-related disorder |
| RS397516330 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome type 1 |
| RS397516331 |
MYO7A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS397516332 |
MYO7A
|
Health Risk |
Likely pathogenic |
Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2 |
| RS397516335 |
POU3F4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher |
| RS397516336 |
POU3F4
|
Health Risk |
Pathogenic |
Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher |
| RS397516338 |
SGCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Qualitative or quantitative defects of delta-sarcoglycan, Hypertrophic cardiomyopathy 1 |
| RS397516340 |
TNNI3
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516342 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516347 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516348 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516349 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397516351 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516352 |
TNNI3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516353 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 7 |
| RS397516354 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397516355 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS397516356 |
TNNI3
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516357 |
TNNI3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397516358 |
TNNI3
|
Health Risk |
Likely pathogenic |
— |
| RS397516359 |
TNNI3
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 2A, Cardiomyopathy |
| RS397516363 |
TPM1
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1Y |
| RS397516364 |
TPM1
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516365 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1Y, Cardiovascular phenotype |
| RS397516369 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Left ventricular noncompaction 9 |
| RS397516370 |
TPM1
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516371 |
TPM1
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS397516372 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516373 |
TPM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS397516374 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y |
| RS397516375 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy |
| RS397516377 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516378 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516382 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS397516386 |
TPM1
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS397516387 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y |
| RS397516389 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS397516391 |
TPM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397516398 |
MYL2
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10 |
| RS397516399 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS397516406 |
MYL2
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516407 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 10 |
| RS397516408 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS397516411 |
SLC26A4-AS1;SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS397516413 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516414 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516416 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516417 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516418 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516420 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516421 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS397516424 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516426 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS397516427 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516428 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS397516430 |
SLC26A4
|
Health Risk |
Pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516431 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS397516432 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS397516433 |
ELN
|
Health Risk |
Pathogenic |
Supravalvar aortic stenosis, Inborn genetic diseases |
| RS397516434 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS397516435 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS397516436 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS397516438 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS397516439 |
TP53
|
Health Risk |
Likely pathogenic |
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome |
| RS397516440 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Pheochromocytoma |
| RS397516441 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS397516442 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS397516444 |
VHL
|
Health Risk |
Pathogenic/Likely pathogenic |
Von Hippel-Lindau syndrome, Chuvash polycythemia |
| RS397516445 |
VHL
|
Health Risk |
Pathogenic |
Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome |
| RS397516447 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary familial hypertrophic cardiomyopathy, Cardiomyopathy |
| RS397516448 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS397516449 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 |
| RS397516450 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2 |
| RS397516451 |
TNNT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Dilated cardiomyopathy 1D |