| RS104894895 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894896 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894897 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894898 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894899 |
NR0B1
|
Health Risk |
Likely pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894900 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894901 |
NSDHL
|
Health Risk |
Pathogenic |
Child syndrome, Child syndrome |
| RS104894902 |
NSDHL
|
Health Risk |
Pathogenic |
Child syndrome, Child syndrome |
| RS104894903 |
NSDHL
|
Health Risk |
Pathogenic |
Child syndrome, Child syndrome |
| RS104894904 |
NSDHL
|
Health Risk |
Pathogenic |
Child syndrome, Child syndrome |
| RS104894905 |
NSDHL
|
Health Risk |
Pathogenic |
Child syndrome, Thyroid cancer |
| RS104894906 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894908 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894909 |
NSDHL
|
Health Risk |
Likely pathogenic |
Child syndrome, Child syndrome |
| RS104894910 |
NYX
|
Health Risk |
Pathogenic |
Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS104894911 |
NYX
|
Health Risk |
Pathogenic |
Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS104894912 |
OPN1LW
|
Health Risk |
Pathogenic |
Cone monochromatism, Cone monochromatism |
| RS104894913 |
OPN1LW
|
Health Risk |
Pathogenic |
Protan defect, Protan defect |
| RS104894914 |
OPN1MW
|
Health Risk |
Pathogenic |
Cone monochromatism, Deuteranomaly |
| RS104894915 |
OPN1MW
|
Health Risk |
Pathogenic |
Deuteranomaly, Deuteranomaly |
| RS104894916 |
OPN1MW
|
Health Risk |
Pathogenic |
Deuteranomaly, Deuteranomaly |
| RS104894917 |
PHF6
|
Health Risk |
Pathogenic |
Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome |
| RS104894918 |
PHF6
|
Health Risk |
Pathogenic |
Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome |
| RS104894919 |
PHF6
|
Health Risk |
Pathogenic |
Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome |
| RS104894920 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS104894921 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS104894922 |
POU3F4
|
Health Risk |
Likely pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS104894923 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS104894924 |
POU3F4
|
Health Risk |
Pathogenic |
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS104894925 |
RP2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 2, Retinitis pigmentosa 2 |
| RS104894926 |
RP2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 2, Retinitis pigmentosa 2 |
| RS104894927 |
RP2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 2, Retinal dystrophy |
| RS104894928 |
RS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile retinoschisis, Retinal dystrophy |
| RS104894929 |
RS1
|
Health Risk |
Likely pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS104894930 |
RS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile retinoschisis, Retinoschisis |
| RS104894931 |
SLC16A2
|
Health Risk |
Pathogenic |
Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894932 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS104894933 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Retinal dystrophy |
| RS104894934 |
RS1
|
Health Risk |
Pathogenic |
Juvenile retinoschisis, Juvenile retinoschisis |
| RS104894936 |
SLC16A2
|
Health Risk |
Likely pathogenic |
Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894938 |
SLC16A2
|
Health Risk |
Pathogenic |
Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894939 |
SLC16A2
|
Health Risk |
Pathogenic |
Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894940 |
SLC16A2
|
Health Risk |
Pathogenic |
Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome |
| RS104894941 |
TAFAZZIN
|
Health Risk |
Pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS104894942 |
TAFAZZIN
|
Health Risk |
Likely pathogenic |
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS104894943 |
TBX22
|
Health Risk |
Pathogenic |
Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS104894944 |
TBX22
|
Health Risk |
Pathogenic |
Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS104894945 |
TBX22
|
Health Risk |
Likely pathogenic |
Cleft palate with ankyloglossia, Cleft palate with or without ankyloglossia |
| RS104894946 |
TBX22
|
Health Risk |
Pathogenic |
Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS104894948 |
TRAPPC2
|
Health Risk |
Likely pathogenic |
Spondyloepiphyseal dysplasia tarda, Connective tissue disorder |
| RS104894949 |
TRAPPC2
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda |
| RS104894950 |
TSPAN7
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 58 |
| RS104894951 |
TSPAN7
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, X-linked 58 |
| RS104894952 |
UBE2A
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type |
| RS104894953 |
XK
|
Health Risk |
Pathogenic |
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS104894954 |
XK
|
Health Risk |
Pathogenic |
McLeod neuroacanthocytosis syndrome, McLeod neuroacanthocytosis syndrome |
| RS104894956 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894957 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894958 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894959 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894960 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS104894961 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS104894962 |
ZIC3
|
Health Risk |
Pathogenic |
Heterotaxy, visceral |
| RS104894964 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894965 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894966 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894967 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894968 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894969 |
SRY
|
Health Risk |
Likely pathogenic |
46, XY sex reversal 1 |
| RS104894970 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894971 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894972 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894973 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894974 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894975 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894976 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894977 |
SRY
|
Health Risk |
Pathogenic |
46, XY sex reversal 1 |
| RS104894979 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Glaucoma 3A, Anterior segment dysgenesis 6 |
| RS104894994 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS104895016 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1 |
| RS104895022 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS104895030 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly, normal intelligence and immunodeficiency |
| RS104895032 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Microcephaly |
| RS104895033 |
NBN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Microcephaly |
| RS104895046 |
RAD50
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder |
| RS104895072 |
AIP
|
Health Risk |
Conflicting classifications of pathogenicity |
Somatotroph adenoma, Hereditary cancer-predisposing syndrome |
| RS104895073 |
AIP
|
Health Risk |
Pathogenic |
Somatotroph adenoma, Hereditary cancer-predisposing syndrome |
| RS104895076 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Acute febrile neutrophilic dermatosis |
| RS104895077 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Autoinflammatory syndrome |
| RS104895078 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Autoinflammatory syndrome |
| RS104895079 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant |
| RS104895080 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant |
| RS104895081 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant |
| RS104895082 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant |
| RS104895083 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Autoinflammatory syndrome |
| RS104895084 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Autoinflammatory syndrome |
| RS104895085 |
MEFV
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial Mediterranean fever, autosomal dominant |
| RS104895087 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, autosomal dominant |
| RS104895088 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Acute febrile neutrophilic dermatosis |
| RS104895089 |
MEFV
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial Mediterranean fever, Familial Mediterranean fever |