| RS2495596213 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495596309 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Cholesteryl ester storage disease |
| RS2495606218 |
FIBP
|
Health Risk |
Likely pathogenic |
Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome |
| RS2495606596 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495606713 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495606969 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495607710 |
FIBP
|
Health Risk |
Likely pathogenic |
Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome |
| RS2495609536 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS2495609540 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS2495609866 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS2495611350 |
PACS1
|
Health Risk |
Likely pathogenic |
— |
| RS2495614521 |
PHF21A
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures |
| RS2495614644 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495615155 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495615815 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495615976 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495616858 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495616947 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495617188 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495617582 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS2495620146 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495620313 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495620772 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495620930 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495621829 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495622382 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495623626 |
MIR6753;TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495623863 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495624005 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495626690 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495627084 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495627191 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495627659 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495628145 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495628204 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495628251 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495628456 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495631727 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495631978 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495632090 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495632459 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495632574 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495632672 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495634103 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495634700 |
CPT1A
|
Health Risk |
Pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495635201 |
CABP4
|
Health Risk |
Pathogenic |
— |
| RS2495636094 |
CABP4
|
Health Risk |
Pathogenic |
— |
| RS2495640695 |
LIPA
|
Health Risk |
Likely pathogenic |
Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency |
| RS2495641617 |
LIPA
|
Health Risk |
Likely pathogenic |
Wolman disease, Wolman disease |
| RS2495642790 |
MICU1
|
Health Risk |
Pathogenic |
— |
| RS2495643520 |
MICU1
|
Health Risk |
Pathogenic |
— |
| RS2495643928 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495644078 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495644292 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495644759 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495645977 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, TCIRG1-related disorder |
| RS2495646107 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495646763 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495646781 |
CABP4
|
Health Risk |
Pathogenic |
— |
| RS2495647377 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495647470 |
TCIRG1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495647732 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495647817 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495648021 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495648387 |
LIPA
|
Health Risk |
Pathogenic |
Wolman disease, Wolman disease |
| RS2495649079 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495649241 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495650913 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495655889 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495657679 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495657837 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495658074 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495659079 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495659749 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495662694 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495662722 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495662923 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495663386 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495663537 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS2495664346 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495664524 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495664561 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS2495666254 |
TCIRG1
|
Health Risk |
Likely pathogenic |
— |
| RS2495666879 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495667015 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495667681 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495667919 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495668180 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495668378 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495670898 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495670907 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495671299 |
TCIRG1
|
Health Risk |
Pathogenic |
— |
| RS2495671574 |
TCIRG1
|
Health Risk |
Likely pathogenic |
Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1 |
| RS2495671613 |
TCIRG1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive osteopetrosis 1, Osteopetrosis |
| RS2495672743 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495672932 |
PC
|
Health Risk |
Pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495673466 |
PC
|
Health Risk |
Likely pathogenic |
Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency |
| RS2495675414 |
MYPN
|
Health Risk |
Likely pathogenic |
MYPN-related disorder, MYPN-related disorder |
| RS2495676595 |
MYPN
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495681803 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |