| RS111033481 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Retinitis pigmentosa |
| RS111033482 |
MYO7A
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033483 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D |
| RS111033484 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS111033486 |
MYO7A
|
Health Risk |
Pathogenic |
Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2 |
| RS111033487 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Usher syndrome type 1 |
| RS111033488 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D |
| RS111033489 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS111033490 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Usher syndrome type 1 |
| RS111033493 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Usher syndrome type 1 |
| RS111033495 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D |
| RS111033497 |
TMC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 |
| RS111033499 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Usher syndrome type 1F |
| RS111033504 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11 |
| RS111033507 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11 |
| RS111033508 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, USH2A-related disorder |
| RS111033509 |
CDH23
|
Health Risk |
Likely pathogenic |
Usher syndrome type 1, Usher syndrome type 1D |
| RS111033510 |
MYO7A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS111033511 |
MYO7A
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1 |
| RS111033514 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 39, Usher syndrome type 2A |
| RS111033515 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS111033516 |
PCDH15
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1, Usher syndrome type 1F |
| RS111033517 |
ADGRV1
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2C, ADGRV1-related disorder |
| RS111033518 |
USH2A
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 39, Usher syndrome |
| RS111033519 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 |
| RS111033522 |
CDH23
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12 |
| RS111033525 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 2A, Inborn genetic diseases |
| RS111033526 |
USH2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Usher syndrome type 2A |
| RS111033527 |
SLC26A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS111033529 |
USH2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Retinitis pigmentosa 39 |
| RS111033537 |
TMPRSS3
|
Health Risk |
Likely pathogenic |
— |
| RS111033538 |
MCEE
|
Health Risk |
Pathogenic |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia |
| RS111033539 |
UGT1A1
|
Health Risk |
Pathogenic |
Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1 |
| RS111033541 |
UGT1A1
|
Health Risk |
Likely pathogenic |
Crigler-Najjar syndrome, type II |
| RS111033542 |
PCCB
|
Health Risk |
Pathogenic |
Propionic acidemia, Propionic acidemia |
| RS111033543 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033544 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033546 |
COL10A1
|
Health Risk |
Likely pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033547 |
COL10A1
|
Health Risk |
Likely pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033548 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033549 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033550 |
COL10A1
|
Health Risk |
Likely pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033551 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033552 |
COL10A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033553 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033554 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033556 |
COL10A1
|
Health Risk |
Pathogenic |
Metaphyseal chondrodysplasia, Schmid type |
| RS111033558 |
HFE
|
Health Risk |
Pathogenic |
Hemochromatosis type 1, Hemochromatosis type 1 |
| RS111033559 |
PLN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy |
| RS111033560 |
PLN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18 |
| RS111033563 |
HFE
|
Health Risk |
Pathogenic/Likely pathogenic |
Hemochromatosis type 1, Hereditary hemochromatosis |
| RS111033565 |
PRSS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary pancreatitis, PRSS1-related disorder |
| RS111033566 |
PRSS1
|
Health Risk |
Pathogenic |
Hereditary pancreatitis, Trypsinogen deficiency |
| RS111033567 |
PRSS1
|
Health Risk |
Likely pathogenic |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS111033568 |
PRSS1
|
Health Risk |
Pathogenic |
Hereditary pancreatitis, PRSS1-related disorder |
| RS111033570 |
TRIM32
|
Health Risk |
Pathogenic |
Sarcotubular myopathy, Myopathy |
| RS111033571 |
TRIM32
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 11, Bardet-Biedl syndrome |
| RS111033572 |
TWNK
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033573 |
TWNK
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033574 |
TWNK
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033575 |
TWNK
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033576 |
TWNK
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033577 |
TWNK
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033578 |
C1QTNF5
|
Health Risk |
Pathogenic/Likely pathogenic |
Late-onset retinal degeneration, Retinal dystrophy |
| RS111033579 |
TWNK
|
Health Risk |
Pathogenic |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| RS111033580 |
CD3D
|
Health Risk |
Pathogenic |
Immunodeficiency 19, Immunodeficiency 19 |
| RS111033581 |
CD3D
|
Health Risk |
Pathogenic |
Immunodeficiency 19, Immunodeficiency 19 |
| RS111033588 |
NDUFS8
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex I deficiency, nuclear type 2 |
| RS111033589 |
DHH
|
Health Risk |
Pathogenic |
46, XY sex reversal 7 |
| RS111033590 |
WNK1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS111033591 |
WNK1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS111033592 |
WNK1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS111033593 |
RDH5
|
Health Risk |
Pathogenic |
Fundus albipunctatus, autosomal recessive |
| RS111033594 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS111033595 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS111033596 |
UBE3A
|
Health Risk |
Pathogenic |
Angelman syndrome, Angelman syndrome |
| RS111033597 |
UBE3A
|
Health Risk |
Likely pathogenic |
Angelman syndrome, Angelman syndrome |
| RS111033603 |
HBA2
|
Health Risk |
Likely pathogenic |
alpha Thalassemia, alpha Thalassemia |
| RS111033606 |
HBA2
|
Health Risk |
Pathogenic |
Abnormal hemoglobin, Abnormal hemoglobin |
| RS111033608 |
GALK1
|
Health Risk |
Pathogenic |
Deficiency of galactokinase, Deficiency of galactokinase |
| RS111033609 |
ATP8B1
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS111033611 |
TGFB1
|
Health Risk |
Pathogenic |
Diaphyseal dysplasia, Diaphyseal dysplasia |
| RS111033612 |
ARX
|
Health Risk |
Pathogenic |
X-linked lissencephaly with abnormal genitalia, Intellectual disability |
| RS111033613 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, FACTOR VIII (EAST HARTFORD) |
| RS111033614 |
F8
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor VIII deficiency disease, Abnormality of coagulation |
| RS111033615 |
F8
|
Health Risk |
Pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS111033616 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS111033617 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, Nonpapillary renal cell carcinoma |
| RS111033618 |
IL2RG
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency, X-linked |
| RS111033619 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS111033620 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS111033621 |
IL2RG
|
Health Risk |
Likely pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS111033622 |
IL2RG
|
Health Risk |
Pathogenic |
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS111033623 |
SH2D1A
|
Health Risk |
Pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative syndrome |
| RS111033624 |
SH2D1A
|
Health Risk |
Pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033625 |
SH2D1A
|
Health Risk |
Likely pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033626 |
SH2D1A
|
Health Risk |
Pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033628 |
SH2D1A
|
Health Risk |
Pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033629 |
SH2D1A
|
Health Risk |
Pathogenic |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |
| RS111033630 |
SH2D1A
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency |