| RS2093682572 |
ABCA3
|
Health Risk |
Pathogenic |
— |
| RS2093686699 |
ABCA3
|
Health Risk |
Pathogenic |
— |
| RS2093701505 |
ABCA3
|
Health Risk |
Pathogenic |
— |
| RS2093733845 |
ABCA3
|
Health Risk |
Likely pathogenic |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS2093755806 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2093757182 |
ITPR1
|
Health Risk |
Likely pathogenic |
— |
| RS2093758918 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2093761171 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2093763492 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2093794192 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2093873520 |
ITPR1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29 |
| RS2093873570 |
ITPR1
|
Health Risk |
Likely pathogenic |
Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16 |
| RS2093873717 |
ITPR1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Spinocerebellar ataxia type 29 |
| RS2093885666 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Dilated cardiomyopathy 3B |
| RS2093886453 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2093893902 |
KCNMA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2093898757 |
KCNMA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Generalized epilepsy-paroxysmal dyskinesia syndrome, Inborn genetic diseases |
| RS2093969640 |
PAK3
|
Health Risk |
Likely pathogenic |
Intellectual disability, X-linked 30 |
| RS2094062438 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2094105154 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2094143468 |
PCDH15
|
Health Risk |
Likely pathogenic |
— |
| RS2094144044 |
PCDH15
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23 |
| RS2094144598 |
PCDH15
|
Health Risk |
Pathogenic |
Usher syndrome type 1D, Usher syndrome type 1D |
| RS2094191768 |
KMT2C
|
Health Risk |
Pathogenic |
— |
| RS2094208830 |
PAK3
|
Health Risk |
Pathogenic |
— |
| RS2094211974 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease |
| RS2094212167 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094216237 |
JAK3
|
Health Risk |
Likely pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094216961 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094229550 |
JAK3
|
Health Risk |
Pathogenic/Likely pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094229647 |
JAK3
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency disease, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094235007 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094238720 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094242185 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094245783 |
JAK3
|
Health Risk |
Pathogenic |
T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| RS2094296642 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS2094301053 |
SLC5A5
|
Health Risk |
Likely pathogenic |
— |
| RS2094311069 |
SLC5A5
|
Health Risk |
Likely pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS2094326271 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS2094337722 |
ITPR1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2094344935 |
SOX5
|
Health Risk |
Pathogenic |
— |
| RS2094441686 |
DST
|
Health Risk |
Likely pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2094528176 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2094529146 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2094531972 |
KCNMA1
|
Health Risk |
Likely pathogenic |
Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome |
| RS2094584404 |
RRM1
|
Health Risk |
Likely pathogenic |
RRM1-related disorder, Progressive external ophthalmoplegia with mitochondrial dna deletions |
| RS2094620865 |
MYBPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hypertrophic cardiomyopathy |
| RS2094690718 |
TTC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 8, Bardet-Biedl syndrome |
| RS2094691095 |
TTC8
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2094725764 |
DYM
|
Health Risk |
Likely pathogenic |
— |
| RS2094756404 |
ITPR1
|
Health Risk |
Likely pathogenic |
— |
| RS2094765878 |
DYSF
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2094765959 |
DYSF
|
Health Risk |
Pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2094793430 |
TTC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS2094827204 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2094827553 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS2094827879 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS2094828804 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2094828872 |
DMD
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Becker muscular dystrophy |
| RS2094839954 |
TTC8
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS2094860666 |
TTC8
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 51, Bardet-Biedl syndrome |
| RS2094861411 |
DYSF
|
Health Risk |
Pathogenic/Likely pathogenic |
Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1 |
| RS2094862793 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2094863263 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2094864231 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2094864356 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2094884555 |
TTC8
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 51, Retinitis pigmentosa 51 |
| RS2094903479 |
CACNA1D
|
Health Risk |
Pathogenic |
— |
| RS2094929531 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2094937970 |
TTC8
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8 |
| RS2094956322 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2094975129 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2094975847 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B |
| RS2094975881 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2094976185 |
DYSF
|
Health Risk |
Likely pathogenic |
Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1 |
| RS2094976441 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2094993424 |
DYM
|
Health Risk |
Likely pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2095000244 |
DYM
|
Health Risk |
Pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS2095035479 |
DYSF
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset |
| RS2095071693 |
DYSF
|
Health Risk |
Likely pathogenic |
Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1 |
| RS2095073059 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2095084796 |
DYSF
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin |
| RS2095135808 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy, Nemaline myopathy |
| RS2095289978 |
DYSF
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1 |
| RS2095359371 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2095369359 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2095370524 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin |
| RS2095515802 |
UFSP2
|
Health Risk |
Likely pathogenic |
Spondyloepimetaphyseal dysplasia, di rocco type |
| RS2095522708 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS2095548237 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2095591008 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiovascular phenotype |
| RS2095693278 |
PDLIM3
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy |
| RS2095739184 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiac arrhythmia, ankyrin-B-related |
| RS2095751954 |
CAMTA1
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2095802050 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2095817122 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiovascular phenotype |
| RS2095850849 |
RIMS2
|
Health Risk |
Pathogenic |
Cone-rod synaptic disorder syndrome, congenital nonprogressive |
| RS2095877685 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy |
| RS2095877700 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS2095877711 |
MYBPC3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiomyopathy |