| RS1553738686 |
STAG1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 47 |
| RS1553738694 |
STAG1
|
Health Risk |
Likely pathogenic |
STAG1-related disorder, STAG1-related disorder |
| RS1553739413 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS1553740233 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS1553741312 |
IFT57
|
Health Risk |
Pathogenic |
Orofaciodigital syndrome 18, Orofaciodigital syndrome 18 |
| RS1553741321 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1553741531 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1553742630 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Centronuclear myopathy |
| RS1553743140 |
MCM2
|
Health Risk |
Likely pathogenic |
— |
| RS1553743217 |
STAG1
|
Health Risk |
Pathogenic |
— |
| RS1553745484 |
EOMES
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1553747119 |
QRICH1
|
Health Risk |
Pathogenic |
Ververi-Brady syndrome, Ververi-Brady syndrome |
| RS1553747489 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553749681 |
DOCK3
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Neurodevelopmental disorder with impaired intellectual development |
| RS1553749862 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553750083 |
HPS3
|
Health Risk |
Pathogenic |
Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3 |
| RS1553750097 |
HPS3
|
Health Risk |
Likely pathogenic |
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1553750572 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553750900 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1553751019 |
ADCY5
|
Health Risk |
Likely pathogenic |
ADCY5-related disorder, ADCY5-related disorder |
| RS1553751120 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553751122 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553751151 |
ADCY5
|
Health Risk |
Pathogenic |
— |
| RS1553751262 |
ADCY5
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Dyskinesia with orofacial involvement |
| RS1553751717 |
QARS1
|
Health Risk |
Pathogenic |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1553752192 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1553752199 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553752779 |
FOXL2
|
Health Risk |
Pathogenic |
Premature ovarian failure 3, Premature ovarian failure 3 |
| RS1553752849 |
FOXL2
|
Health Risk |
Pathogenic |
Blepharophimosis, ptosis |
| RS1553752889 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553752890 |
FOXL2
|
Health Risk |
Pathogenic |
Blepharophimosis, ptosis |
| RS1553752894 |
FOXL2
|
Health Risk |
Pathogenic |
Premature ovarian failure 3, Premature ovarian failure 3 |
| RS1553752945 |
FOXL2
|
Health Risk |
Pathogenic |
Blepharophimosis, ptosis |
| RS1553753119 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Alport syndrome 3b |
| RS1553753582 |
IFT80
|
Health Risk |
Pathogenic/Likely pathogenic |
Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1553753971 |
PEX11B
|
Health Risk |
Conflicting classifications of pathogenicity |
Radial aplasia-thrombocytopenia syndrome, Peroxisome biogenesis disorder 14B |
| RS1553753994 |
PEX11B
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1553754148 |
PEX11B
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS1553754165 |
PEX11B
|
Health Risk |
Pathogenic |
— |
| RS1553754743 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Cardiovascular phenotype |
| RS1553755124 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1553755767 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553755829 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553756062 |
ITPR1
|
Health Risk |
Pathogenic |
Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS1553756157 |
RBM8A
|
Health Risk |
Pathogenic |
Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome |
| RS1553756349 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1553756374 |
CFAP44
|
Health Risk |
Pathogenic |
Spermatogenic failure 20, Spermatogenic failure 20 |
| RS1553756824 |
CFAP44
|
Health Risk |
Pathogenic |
Spermatogenic failure 20, Spermatogenic failure 20 |
| RS1553757060 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553757096 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553757097 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553757628 |
ITPR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Spinocerebellar ataxia type 15/16 |
| RS1553758021 |
ITPR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gillespie syndrome, ITPR1-associated cerebellar ataxia spectrum disorder |
| RS1553758385 |
PDCD10
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1553758893 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553758919 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553759042 |
PDCD10
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1553759059 |
PDCD10
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1553759139 |
PDCD10
|
Health Risk |
Pathogenic/Likely pathogenic |
Cerebral cavernous malformation 3, Hemiparesis |
| RS1553759167 |
CP
|
Health Risk |
Pathogenic |
Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1553759256 |
CACNA2D2
|
Health Risk |
Pathogenic |
— |
| RS1553759318 |
NRXN1
|
Health Risk |
Pathogenic |
— |
| RS1553759338 |
CP
|
Health Risk |
Pathogenic |
Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1553759430 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS1553759476 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1553759665 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553760257 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553760558 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS1553760567 |
ATR
|
Health Risk |
Pathogenic/Likely pathogenic |
Seckel syndrome 1, Cornelia de Lange syndrome 1 |
| RS1553760802 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553760888 |
PDCD10
|
Health Risk |
Pathogenic |
— |
| RS1553760900 |
PDCD10
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 3, PDCD10-related disorder |
| RS1553761113 |
ATR
|
Health Risk |
Likely pathogenic |
Seckel syndrome 1, Seckel syndrome 1 |
| RS1553761217 |
PDCD10
|
Health Risk |
Pathogenic |
— |
| RS1553761266 |
PDCD10
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 3, Cerebral cavernous malformation 3 |
| RS1553761391 |
CP
|
Health Risk |
Pathogenic |
Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1553762113 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1553762279 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553762314 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome |
| RS1553762556 |
CP
|
Health Risk |
Pathogenic |
Deficiency of ferroxidase, Deficiency of ferroxidase |
| RS1553762626 |
NEB
|
Health Risk |
Pathogenic |
— |
| RS1553762839 |
PDCD10
|
Health Risk |
Likely pathogenic |
— |
| RS1553762936 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553763404 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1553763618 |
POLR3GL
|
Health Risk |
Pathogenic/Likely pathogenic |
Oligodontia, Abnormal facial shape |
| RS1553764136 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Benign familial hematuria |
| RS1553764454 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Hematuria |
| RS1553764834 |
IFT80
|
Health Risk |
Pathogenic/Likely pathogenic |
Type IV short rib polydactyly syndrome, Type IV short rib polydactyly syndrome |
| RS1553765265 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553765316 |
MME
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43 |
| RS1553765380 |
CP
|
Health Risk |
Likely pathogenic |
— |
| RS1553765608 |
SF3B4
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1553766257 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1553766262 |
CASR
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Familial hypocalciuric hypercalcemia |
| RS1553766404 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553766735 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS1553766768 |
CASR
|
Health Risk |
Pathogenic |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1553766794 |
CASR
|
Health Risk |
Likely pathogenic |
— |
| RS1553766800 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |
| RS1553766867 |
CASR
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1 |