| RS120074119 |
SMPD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type A |
| RS120074120 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type A |
| RS120074121 |
SMPD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type A |
| RS120074122 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type B |
| RS120074123 |
SMPD1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type B |
| RS120074124 |
SMPD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type A |
| RS120074125 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-pick disease, intermediate |
| RS120074126 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type B |
| RS120074127 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type B |
| RS120074128 |
SMPD1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type B |
| RS120074130 |
NPC1
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C1 |
| RS120074131 |
NPC1
|
Health Risk |
Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS120074132 |
NPC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Niemann-Pick disease, type C1 |
| RS120074134 |
NPC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS120074135 |
NPC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS120074136 |
NPC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Niemann-Pick disease, type C1 |
| RS120074137 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS120074138 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS120074139 |
SBF2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS120074140 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074141 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074142 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074143 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074144 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074145 |
ACAT1
|
Health Risk |
Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074146 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074147 |
ACAT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074148 |
ACAT1
|
Health Risk |
Pathogenic |
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074149 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS120074150 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS120074151 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS120074152 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Inborn genetic diseases |
| RS120074153 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS120074154 |
VPS13B
|
Health Risk |
Pathogenic/Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS120074156 |
FRAS1
|
Health Risk |
Pathogenic |
Fraser syndrome 1, Fraser syndrome 1 |
| RS120074157 |
FRAS1
|
Health Risk |
Pathogenic |
Fraser syndrome 1, Fraser syndrome 1 |
| RS120074158 |
FRAS1
|
Health Risk |
Pathogenic |
Fraser syndrome 1, Fraser syndrome 1 |
| RS120074159 |
FRAS1
|
Health Risk |
Pathogenic |
Fraser syndrome 1, Fraser syndrome 1 |
| RS120074160 |
SBDS
|
Health Risk |
Pathogenic/Likely pathogenic |
Splenomegaly, Microcephaly |
| RS120074161 |
DYM
|
Health Risk |
Pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS120074162 |
DYM
|
Health Risk |
Pathogenic/Likely pathogenic |
Dyggve-Melchior-Clausen syndrome, Smith-McCort dysplasia 1 |
| RS120074163 |
DYM
|
Health Risk |
Pathogenic |
Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome |
| RS120074164 |
DYM
|
Health Risk |
Pathogenic |
Smith-McCort dysplasia 1, DYM-related disorder |
| RS120074165 |
DYM
|
Health Risk |
Pathogenic |
Smith-McCort dysplasia 1, Smith-McCort dysplasia 1 |
| RS120074166 |
CDAN1
|
Health Risk |
Likely pathogenic |
Congenital dyserythropoietic anemia, type I |
| RS120074167 |
CDAN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital dyserythropoietic anemia, type I |
| RS120074168 |
CDAN1
|
Health Risk |
Pathogenic |
Congenital dyserythropoietic anemia, type I |
| RS120074169 |
CDAN1
|
Health Risk |
Pathogenic |
Congenital dyserythropoietic anemia, type I |
| RS120074170 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, Alkaptonuria |
| RS120074171 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, Alkaptonuria |
| RS120074172 |
HGD
|
Health Risk |
Likely pathogenic |
Alkaptonuria, Alkaptonuria |
| RS120074173 |
HGD
|
Health Risk |
Pathogenic |
Alkaptonuria, See cases |
| RS120074174 |
HGD
|
Health Risk |
Pathogenic/Likely pathogenic |
Alkaptonuria, Alkaptonuria |
| RS120074175 |
TPH2
|
Health Risk |
risk factor |
Unipolar depression, susceptibility to |
| RS120074176 |
TPH2
|
Health Risk |
risk factor |
Attention deficit-hyperactivity disorder, susceptibility to |
| RS120074177 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074178 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Long QT syndrome 1, Long QT syndrome |
| RS120074179 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074180 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074181 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074182 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074183 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074184 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074185 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074186 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Jervell and Lange-Nielsen syndrome 1, Congenital long QT syndrome |
| RS120074187 |
KCNQ1
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 1, Cardiovascular phenotype |
| RS120074188 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, recessive |
| RS120074189 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Jervell and Lange-Nielsen syndrome 1, Long QT syndrome |
| RS120074190 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1 |
| RS120074191 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074192 |
KCNQ1
|
Health Risk |
Pathogenic |
Atrial fibrillation, familial |
| RS120074193 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074194 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Congenital long QT syndrome |
| RS120074196 |
KCNQ1
|
Health Risk |
Likely pathogenic |
Long QT syndrome 1/2, digenic |
| RS120074205 |
BRCA2
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1200748845 |
G6PC1
|
Health Risk |
Pathogenic |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1200751613 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome |
| RS1200768694 |
DCLRE1C
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS1200769534 |
GALC
|
Health Risk |
Conflicting classifications of pathogenicity |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1200777248 |
SCN5A
|
Health Risk |
Likely pathogenic |
Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome (shorter-than-normal QT interval) |
| RS1200789458 |
RYR1
|
Health Risk |
Conflicting classifications of pathogenicity |
RYR1-related disorder, RYR1-related disorder |
| RS1200795502 |
NEK1
|
Health Risk |
Pathogenic |
— |
| RS1200802961 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1200816320 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Retinal dystrophy |
| RS1200817308 |
KIF1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Neuropathy |
| RS1200818995 |
CLCNKB
|
Health Risk |
Pathogenic |
— |
| RS1200823602 |
AFG2A
|
Health Risk |
Pathogenic |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| RS1200826286 |
DNAAF4
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25 |
| RS1200833757 |
LRP5
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteoporosis, Osteoporosis |
| RS1200834763 |
CEP290
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Meckel-Gruber syndrome |
| RS1200837034 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS1200884939 |
GUCY2D
|
Health Risk |
Pathogenic |
Night blindness, congenital stationary |
| RS1200906022 |
SOD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1200912683 |
TRAPPC12
|
Health Risk |
Likely pathogenic |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| RS1200919286 |
DGAT1
|
Health Risk |
Pathogenic |
Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy |
| RS1200932753 |
FLCN
|
Health Risk |
Conflicting classifications of pathogenicity |
Birt-Hogg-Dube syndrome, See cases |
| RS1200977386 |
OTOF
|
Health Risk |
Pathogenic |
— |
| RS1200988060 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1200990468 |
COL5A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Ehlers-Danlos syndrome, classic type |
| RS1200992439 |
TPP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7 |