| RS2495485309 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495485616 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495486867 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495487509 |
PC
|
Health Risk |
Pathogenic/Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495490951 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495494399 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495494758 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495494945 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495495266 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495496043 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495496267 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495496525 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495497804 |
UNC93B1
|
Health Risk |
Pathogenic |
Herpes simplex encephalitis, susceptibility to |
| RS2495505899 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495506005 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495506363 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495506424 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495506474 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495508261 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495509213 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495512494 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495512604 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495512675 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513020 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513054 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513259 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513264 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495513283 |
CPT1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495517669 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495517823 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495517853 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495518514 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495547976 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS2495548120 |
PNPLA2
|
Health Risk |
Likely pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS2495548886 |
PLAAT3
|
Health Risk |
Pathogenic |
Lipodystrophy, familial partial |
| RS2495549778 |
PACS1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS2495552847 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495552899 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495553147 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS2495553163 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495553252 |
PNPLA2
|
Health Risk |
Pathogenic |
Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS2495553333 |
CPT1A
|
Health Risk |
Pathogenic/Likely pathogenic |
CPT1A-related disorder, Carnitine palmitoyl transferase 1A deficiency |
| RS2495554859 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Wolman disease |
| RS2495555897 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495558424 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495560160 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495560443 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495560452 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495561761 |
CLPB
|
Health Risk |
Likely pathogenic |
3-methylglutaconic aciduria, type VIIB |
| RS2495572126 |
IGF2
|
Health Risk |
Likely pathogenic |
Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495573677 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495573807 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495573872 |
EFEMP2
|
Health Risk |
Pathogenic |
Cutis laxa, autosomal recessive |
| RS2495574266 |
EFEMP2
|
Health Risk |
Likely pathogenic |
— |
| RS2495575151 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495575175 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495575225 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Wolman disease |
| RS2495575741 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Wolman disease |
| RS2495575745 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Wolman disease |
| RS2495576425 |
IGF2
|
Health Risk |
Likely pathogenic |
Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495576486 |
IGF2
|
Health Risk |
Pathogenic |
Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495577460 |
STX3
|
Health Risk |
Pathogenic |
— |
| RS2495577862 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495577924 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495578086 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495578095 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495578109 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495579185 |
EFEMP2
|
Health Risk |
Likely pathogenic |
Cutis laxa, autosomal recessive |
| RS2495580444 |
EFEMP2
|
Health Risk |
Pathogenic |
Cutis laxa, autosomal recessive |
| RS2495580894 |
NDUFS8
|
Health Risk |
Likely pathogenic |
— |
| RS2495581254 |
NDUFS8
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 2 |
| RS2495581454 |
NDUFS8
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 2 |
| RS2495583852 |
EFEMP2
|
Health Risk |
Likely pathogenic |
Cutis laxa, autosomal recessive |
| RS2495584347 |
LIPA
|
Health Risk |
Likely pathogenic |
Cholesteryl ester storage disease, Cholesteryl ester storage disease |
| RS2495584620 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495584725 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495584738 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495587500 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495587613 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495587883 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495587892 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495588098 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495589617 |
IGF2
|
Health Risk |
Pathogenic |
IGF2-related disorder, IGF2-related disorder |
| RS2495590055 |
IGF2
|
Health Risk |
Pathogenic/Likely pathogenic |
See cases, See cases |
| RS2495590067 |
IGF2
|
Health Risk |
Likely pathogenic |
Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495590166 |
IGF2
|
Health Risk |
Pathogenic |
— |
| RS2495590514 |
MYPN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495590778 |
MYPN
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495590849 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495590932 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495591068 |
IGF2
|
Health Risk |
Pathogenic |
Silver-Russell syndrome 3, Silver-Russell syndrome 3 |
| RS2495591071 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495591267 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495592225 |
KMT5B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 51 |
| RS2495592252 |
KMT5B
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 51 |
| RS2495592820 |
SHANK2
|
Health Risk |
Likely pathogenic |
Autism, susceptibility to |
| RS2495594978 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Wolman disease |
| RS2495595027 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495595268 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495595750 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |