| RS398122910 |
MVK
|
Health Risk |
Pathogenic |
Porokeratosis 3, disseminated superficial actinic type |
| RS398122911 |
MVK
|
Health Risk |
Pathogenic |
Porokeratosis 3, disseminated superficial actinic type |
| RS398122912 |
PGM1
|
Health Risk |
Pathogenic |
PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation |
| RS398122913 |
HOXC13
|
Health Risk |
Pathogenic |
Ectodermal dysplasia 9, hair/nail type |
| RS398122914 |
SKI
|
Health Risk |
Pathogenic |
Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome |
| RS398122915 |
SOX2
|
Health Risk |
Pathogenic |
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS398122916 |
SOX2
|
Health Risk |
Pathogenic |
Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome |
| RS398122918 |
CHMP1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8 |
| RS398122919 |
IGSF1
|
Health Risk |
Pathogenic |
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS398122920 |
IGSF1
|
Health Risk |
Pathogenic |
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS398122921 |
IGSF1
|
Health Risk |
Pathogenic |
X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| RS398122922 |
SPR
|
Health Risk |
Pathogenic |
Dopa-responsive dystonia due to sepiapterin reductase deficiency, Sarcoma |
| RS398122924 |
GNAL
|
Health Risk |
Pathogenic |
Dystonia 25, Dystonia 25 |
| RS398122925 |
GNAL
|
Health Risk |
Pathogenic |
Dystonia 25, Dystonia 25 |
| RS398122926 |
GNAL
|
Health Risk |
Pathogenic |
Dystonia 25, Dystonia 25 |
| RS398122927 |
GNAL
|
Health Risk |
Pathogenic |
Dystonia 25, Dystonia 25 |
| RS398122928 |
GNAL
|
Health Risk |
Pathogenic |
Dystonia 25, Dystonia 25 |
| RS398122929 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS398122930 |
SMPX
|
Health Risk |
Pathogenic/Likely pathogenic |
Hearing loss, X-linked 4 |
| RS398122931 |
KLF1
|
Health Risk |
Pathogenic |
BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR |
| RS398122932 |
PKD2
|
Health Risk |
Pathogenic |
Polycystic kidney disease 2, Polycystic kidney disease 2 |
| RS398122933 |
CD27
|
Health Risk |
Pathogenic |
Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2 |
| RS398122934 |
FBN1
|
Health Risk |
Pathogenic |
Marfan syndrome, Marfan syndrome |
| RS398122935 |
AGTR1
|
Health Risk |
Pathogenic |
Renal tubular dysgenesis, Essential hypertension |
| RS398122936 |
ACTA1
|
Health Risk |
Pathogenic |
Congenital myopathy 2c, severe infantile |
| RS398122937 |
GJA3
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 14 multiple types, Cataract 14 multiple types |
| RS398122938 |
ZC4H2
|
Health Risk |
Pathogenic |
Wieacker-Wolff syndrome, Wieacker-Wolff syndrome |
| RS398122939 |
ZC4H2
|
Health Risk |
Likely pathogenic |
Wieacker-Wolff syndrome, Neurodevelopmental disorder |
| RS398122940 |
DES
|
Health Risk |
Pathogenic/Likely pathogenic |
Abnormality of the musculature, Desmin-related myofibrillar myopathy |
| RS398122941 |
TBC1D24
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 16 |
| RS398122942 |
SLC25A4
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive |
| RS398122943 |
DST
|
Health Risk |
Conflicting classifications of pathogenicity |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS398122944 |
CRYGC
|
Health Risk |
Pathogenic |
Cataract 2, multiple types |
| RS398122945 |
FGFR1
|
Health Risk |
Pathogenic |
Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome |
| RS398122946 |
FGFR1
|
Health Risk |
Pathogenic |
Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome |
| RS398122947 |
CRYAA
|
Health Risk |
Pathogenic |
Cataract 9 multiple types, Cataract 9 multiple types |
| RS398122948 |
CRYGD
|
Health Risk |
Likely pathogenic |
Cataract 4 multiple types, Aculeiform cataract |
| RS398122949 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS398122950 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS398122951 |
DSG1
|
Health Risk |
Pathogenic |
Palmoplantar keratoderma i, striate |
| RS398122952 |
DSG1
|
Health Risk |
Pathogenic |
Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| RS398122953 |
FAT4
|
Health Risk |
Pathogenic |
Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122954 |
FAT4
|
Health Risk |
Pathogenic |
Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122955 |
FAT4
|
Health Risk |
Pathogenic |
Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2 |
| RS398122956 |
FAT4
|
Health Risk |
Pathogenic |
Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122957 |
FAT4
|
Health Risk |
Pathogenic |
Van Maldergem syndrome 2, Van Maldergem syndrome 2 |
| RS398122958 |
PRKCD
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD |
| RS398122959 |
TPP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 7, Autosomal recessive spinocerebellar ataxia 7 |
| RS398122960 |
RPGR
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 3, Inborn genetic diseases |
| RS398122961 |
NEK2
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 67, Retinitis pigmentosa 67 |
| RS398122962 |
CERKL
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 26, Retinitis pigmentosa |
| RS398122963 |
CERKL
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 26, Retinitis pigmentosa |
| RS398122964 |
CERKL
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 26, Retinitis pigmentosa |
| RS398122965 |
TBC1D24
|
Health Risk |
Pathogenic/Likely pathogenic |
DOORS syndrome, Developmental and epileptic encephalopathy |
| RS398122966 |
TBC1D24
|
Health Risk |
Pathogenic |
DOORS syndrome, Autosomal dominant nonsyndromic hearing loss 65 |
| RS398122967 |
TBC1D24
|
Health Risk |
Pathogenic |
DOORS syndrome, Autosomal dominant nonsyndromic hearing loss 65 |
| RS398122968 |
TBC1D24
|
Health Risk |
Pathogenic |
DOORS syndrome, DOORS syndrome |
| RS398122969 |
KDM6A
|
Health Risk |
Pathogenic |
Kabuki syndrome 2, Kabuki syndrome 2 |
| RS398122970 |
HES7
|
Health Risk |
Likely pathogenic |
Spondylocostal dysostosis 4, autosomal recessive |
| RS398122971 |
CDK5RAP2
|
Health Risk |
Pathogenic |
Microcephaly 3, primary |
| RS398122972 |
MTRFR
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 7, Hereditary spastic paraplegia 55 |
| RS398122973 |
ASNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS398122974 |
ASNS
|
Health Risk |
Pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS398122975 |
ASNS
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS398122976 |
STIL
|
Health Risk |
Pathogenic |
Microcephaly 7, primary |
| RS398122978 |
COQ8B
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, type 9 |
| RS398122979 |
COQ8B
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 9 |
| RS398122980 |
COQ8B
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, type 9 |
| RS398122981 |
COQ8B
|
Health Risk |
Pathogenic |
Nephrotic syndrome, type 9 |
| RS398122982 |
COQ8B
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, type 9 |
| RS398122983 |
COQ8B
|
Health Risk |
Pathogenic/Likely pathogenic |
Nephrotic syndrome, type 9 |
| RS398122984 |
TGFB3
|
Health Risk |
Pathogenic |
Rienhoff syndrome, Rienhoff syndrome |
| RS398122985 |
ANGPTL3
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122986 |
ANGPTL3
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122987 |
ANGPTL3
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122988 |
ANGPTL3;DOCK7
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 2, Developmental and epileptic encephalopathy |
| RS398122989 |
ANGPTL3
|
Health Risk |
Pathogenic |
Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2 |
| RS398122990 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, Thrombophilia |
| RS398122991 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Retinal dystrophy |
| RS398122992 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS398122993 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiovascular phenotype |
| RS398122994 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Alstrom syndrome |
| RS398122995 |
ALMS1
|
Health Risk |
Pathogenic |
Alstrom syndrome, Cardiomyopathy |
| RS398122997 |
GRHL2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 28, Autosomal dominant nonsyndromic hearing loss 28 |
| RS398122998 |
CHD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy 94, Inborn genetic diseases |
| RS398122999 |
CHD2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS398123000 |
CHD2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS398123001 |
PUF60
|
Health Risk |
Likely pathogenic |
8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS398123002 |
ERLIN2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS398123003 |
SLC9A6
|
Health Risk |
Pathogenic |
Christianson syndrome, Christianson syndrome |
| RS398123006 |
GRHL2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 28, Autosomal dominant nonsyndromic hearing loss 28 |
| RS398123007 |
WASHC5
|
Health Risk |
Likely pathogenic |
Ritscher-Schinzel syndrome 1, WASHC5-related disorder |
| RS398123008 |
DGKE
|
Health Risk |
Pathogenic |
Immunoglobulin-mediated membranoproliferative glomerulonephritis, Mesangiocapillary glomerulonephritis |
| RS398123009 |
PACS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases |
| RS398123010 |
TRPA1
|
Health Risk |
Pathogenic |
Familial episodic pain syndrome with predominantly upper body involvement, Familial episodic pain syndrome with predominantly upper body involvement |
| RS398123011 |
SNX10
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8 |
| RS398123012 |
GBA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 46, Hereditary spastic paraplegia |
| RS398123013 |
GBA2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 46, Spastic paraplegia |
| RS398123014 |
GBA2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 46, Spastic paraplegia |
| RS398123015 |
GBA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 46, Hereditary spastic paraplegia |