| RS727503236 |
MYH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1EE, Hypertrophic cardiomyopathy 14 |
| RS727503240 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS727503242 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS727503245 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiomyopathy |
| RS727503246 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503249 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
| RS727503252 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503253 |
MYH7
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1S |
| RS727503258 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Cardiomyopathy |
| RS727503260 |
MYH7
|
Health Risk |
Pathogenic |
Restrictive cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503261 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy |
| RS727503262 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS727503263 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503264 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503265 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503266 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503268 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS727503269 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
| RS727503271 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503272 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503274 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503276 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS727503277 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Cardiomyopathy |
| RS727503278 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Inborn genetic diseases |
| RS727503281 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17 |
| RS727503284 |
MYH9
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS727503285 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS727503286 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 |
| RS727503289 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17 |
| RS727503296 |
MYL2
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS727503299 |
MYL2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 10, Hypertrophic cardiomyopathy |
| RS727503303 |
MYLK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727503304 |
MYLK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS727503306 |
MYLK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS727503309 |
MYO15A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3 |
| RS727503310 |
MYO15A
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS727503311 |
MYO15A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3 |
| RS727503312 |
MYO15A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503315 |
MYO15A
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3 |
| RS727503316 |
MYO15A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Monogenic hearing loss |
| RS727503326 |
MYO6
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 22 |
| RS727503328 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2 |
| RS727503329 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome type 1, Rare genetic deafness |
| RS727503338 |
NEBL
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727503344 |
NEXN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20 |
| RS727503350 |
OTOA
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503351 |
OTOA
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503352 |
OTOF
|
Health Risk |
Pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503356 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS727503359 |
OTOF
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases |
| RS727503364 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS727503373 |
PKP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy |
| RS727503374 |
PLN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1P, Cardiovascular phenotype |
| RS727503377 |
POU3F4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503378 |
PRKAG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Lethal congenital glycogen storage disease of heart |
| RS727503379 |
PRKAR1A
|
Health Risk |
Pathogenic |
Carney complex, type 1 |
| RS727503380 |
PTPN11
|
Health Risk |
Likely pathogenic |
Noonan syndrome, Noonan syndrome 3 |
| RS727503381 |
PTPN11
|
Health Risk |
Pathogenic/Likely pathogenic |
Noonan syndrome, RASopathy |
| RS727503382 |
RAF1
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, RAF1-related disorder |
| RS727503384 |
RAF1
|
Health Risk |
Likely pathogenic |
Noonan syndrome, Noonan syndrome |
| RS727503387 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1DD, Cardiovascular phenotype |
| RS727503388 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1DD, Cardiomyopathy |
| RS727503392 |
RBM20
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD |
| RS727503394 |
RSPH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 24 |
| RS727503396 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype |
| RS727503401 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS727503402 |
RYR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS727503407 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, Cardiovascular phenotype |
| RS727503410 |
SCN5A
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiac arrhythmia |
| RS727503411 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
Brugada syndrome, Cardiovascular phenotype |
| RS727503415 |
SDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS727503416 |
SERPINB6
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503419 |
SGCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan |
| RS727503421 |
SGCD
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS727503422 |
SGCD
|
Health Risk |
Likely pathogenic |
Neuromuscular disease, Dilated cardiomyopathy 1L |
| RS727503425 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4 |
| RS727503427 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS727503428 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4 |
| RS727503430 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4 |
| RS727503431 |
SLC26A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Pendred syndrome |
| RS727503434 |
SOS1
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, Fibromatosis |
| RS727503436 |
SOS1
|
Health Risk |
Conflicting classifications of pathogenicity |
RASopathy, SOS1-related disorder |
| RS727503441 |
STRC
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 16, Inborn genetic diseases |
| RS727503442 |
STRC
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 |
| RS727503443 |
STRC
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 |
| RS727503444 |
STRC
|
Health Risk |
Pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 |
| RS727503449 |
STRC
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16 |
| RS727503467 |
TECTA
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS727503470 |
TGFBR1
|
Health Risk |
Likely pathogenic |
Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1 |
| RS727503472 |
TGFBR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS727503475 |
TGFBR2
|
Health Risk |
Pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS727503476 |
TGFBR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS727503477 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome |
| RS727503479 |
TJP2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS727503483 |
TMC1
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS727503485 |
TMC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 |
| RS727503490 |
TMEM127
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS727503492 |
TMPRSS3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8 |
| RS727503493 |
TMPRSS3
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8 |
| RS727503495 |
TNNC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13 |