| RS1566367610 |
LIG4
|
Health Risk |
Pathogenic/Likely pathogenic |
DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1566370178 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS1566376648 |
TGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1566376724 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1566376798 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS1566377068 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1566378425 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1566378788 |
COL4A1
|
Health Risk |
Pathogenic |
Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS1566380103 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1566381457 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1566385468 |
NALCN
|
Health Risk |
Likely pathogenic |
Congenital contractures of the limbs and face, hypotonia |
| RS1566402173 |
CRYAB
|
Health Risk |
Conflicting classifications of pathogenicity |
Myofibrillar myopathy 2, CRYAB-related disorder |
| RS1566402656 |
CRYAB
|
Health Risk |
Pathogenic |
Cataract 16 multiple types, Cataract 16 multiple types |
| RS1566405714 |
ZIC2
|
Health Risk |
Likely pathogenic |
Holoprosencephaly 5, Holoprosencephaly 5 |
| RS1566411552 |
PPP2R3C
|
Health Risk |
Pathogenic |
Gonadal dysgenesis, dysmorphic facies |
| RS1566417012 |
VWA8
|
Health Risk |
Likely pathogenic |
Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate |
| RS1566424655 |
IGHMBP2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 |
| RS1566427770 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1566430156 |
IGHMBP2
|
Health Risk |
Pathogenic |
Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S |
| RS1566433812 |
OXA1L
|
Health Risk |
Pathogenic |
Mitochondrial disease, Mitochondrial disease |
| RS1566439723 |
IGHMBP2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease axonal type 2S, Charcot-Marie-Tooth disease axonal type 2S |
| RS1566441447 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS1566441592 |
ZMYM2
|
Health Risk |
Likely pathogenic |
— |
| RS1566443170 |
IGHMBP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 |
| RS1566444686 |
CHD8
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1566444909 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566445029 |
IGHMBP2
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1 |
| RS1566445169 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1566445489 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, Neurodevelopmental disorder |
| RS1566445533 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1566446604 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1566460907 |
NALCN
|
Health Risk |
Likely pathogenic |
Congenital contractures of the limbs and face, hypotonia |
| RS1566461818 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566462533 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS1566464880 |
NR1H4
|
Health Risk |
Likely pathogenic |
— |
| RS1566468784 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS1566468816 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS1566498495 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566503575 |
ATP7B
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilson disease, Wilson disease |
| RS1566504935 |
MGAT2
|
Health Risk |
Pathogenic |
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS1566505013 |
MGAT2
|
Health Risk |
Pathogenic |
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS1566507605 |
OSGEP
|
Health Risk |
Likely pathogenic |
Galloway-Mowat syndrome 3, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
| RS1566513076 |
DNAAF2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1566513862 |
MYH6
|
Health Risk |
Pathogenic |
Heart, malformation of |
| RS1566515310 |
GJA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 14 multiple types, Cataract 14 multiple types |
| RS1566515377 |
GJA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 14 multiple types, Cataract 14 multiple types |
| RS1566516373 |
MYH6
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy 14 |
| RS1566521710 |
MYH7
|
Health Risk |
Likely pathogenic |
MYH7-related skeletal myopathy, Congenital myopathy with fiber type disproportion |
| RS1566522846 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566525400 |
PNP
|
Health Risk |
Pathogenic |
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1566525641 |
PNP
|
Health Risk |
Pathogenic |
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1566525717 |
COL4A2
|
Health Risk |
Pathogenic |
Porencephaly 2, Porencephaly 2 |
| RS1566526391 |
MYH7
|
Health Risk |
Likely pathogenic |
MYH7-related disorder, MYH7-related disorder |
| RS1566528185 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A |
| RS1566528711 |
GJB2
|
Health Risk |
Pathogenic |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A |
| RS1566528901 |
GJB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 3A, 7 conditions |
| RS1566529937 |
RASA3
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1566530698 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1 |
| RS1566531303 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1 |
| RS1566531421 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566531657 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566531920 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566532164 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566532837 |
AP4S1
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS1566533919 |
MYH7
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S |
| RS1566534775 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S |
| RS1566535368 |
MYH7
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1566535410 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S |
| RS1566535491 |
MYH7
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566536418 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566536436 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS1566537070 |
MYH7
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS1566538321 |
GJB6
|
Health Risk |
Likely pathogenic |
Nonsyndromic Deafness, Nonsyndromic Deafness |
| RS1566539998 |
COL4A2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1566559605 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566560096 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566560531 |
NRL
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 27, Retinitis pigmentosa 27 |
| RS1566561006 |
NRL
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 27, Retinal dystrophy |
| RS1566561439 |
TMEM260
|
Health Risk |
Likely pathogenic |
Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome |
| RS1566580253 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS1566585766 |
TTLL5
|
Health Risk |
Pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1566591076 |
NFKBIA
|
Health Risk |
Pathogenic |
Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2 |
| RS1566591082 |
NFKBIA
|
Health Risk |
Pathogenic |
Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2 |
| RS1566591086 |
NFKBIA
|
Health Risk |
Pathogenic |
Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2 |
| RS1566598496 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS1566600827 |
MAX
|
Health Risk |
risk factor |
Pheochromocytoma, susceptibility to |
| RS1566603492 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS1566606055 |
ACTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, ACTN1-related disorder |
| RS1566607594 |
MLH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS1566614549 |
NAXD
|
Health Risk |
Pathogenic |
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS1566615444 |
NKX2-1
|
Health Risk |
Likely pathogenic |
Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome |
| RS1566615893 |
RNF31
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1566622093 |
LTBP2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1566622571 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS1566622633 |
MAX
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1566622642 |
OTX2
|
Health Risk |
Pathogenic |
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS1566623121 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS1566623392 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |
| RS1566623786 |
NAXD
|
Health Risk |
Pathogenic |
NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency |
| RS1566624472 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Syndromic microphthalmia type 5 |