| RS2486665444 |
ESCO2
|
Health Risk |
Likely pathogenic |
— |
| RS2486665521 |
ESCO2
|
Health Risk |
Pathogenic |
— |
| RS2486666085 |
ESCO2
|
Health Risk |
Pathogenic |
— |
| RS2486679687 |
ESCO2
|
Health Risk |
Pathogenic |
— |
| RS2486721262 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486721298 |
ANK1
|
Health Risk |
Pathogenic |
ANK1-related disorder, ANK1-related disorder |
| RS2486721555 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486722467 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486723583 |
ELN
|
Health Risk |
Likely pathogenic |
Supravalvar aortic stenosis, Supravalvar aortic stenosis |
| RS2486728629 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486728869 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486729228 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486729249 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486729264 |
ANK1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486737128 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486737272 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486739931 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486739996 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486740088 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2486740227 |
ANK1
|
Health Risk |
Likely pathogenic |
— |
| RS2486745974 |
KMT2C
|
Health Risk |
Pathogenic |
Kleefstra syndrome 2, Kleefstra syndrome 2 |
| RS2486748129 |
ANK1
|
Health Risk |
Likely pathogenic |
ANK1-related disorder, ANK1-related disorder |
| RS2486748136 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486748159 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486748499 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486749357 |
DDHD2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486750141 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486750157 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486750189 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486750312 |
KAT6A
|
Health Risk |
Conflicting classifications of pathogenicity |
KAT6A-related disorder, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486750440 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486750606 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486750826 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486751066 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486751524 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486752003 |
KAT6A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2486752178 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486752253 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486752381 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486752965 |
KAT6A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2486753105 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486754041 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS2486754056 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486755227 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486755415 |
KAT6A
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486755602 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486756300 |
POMK
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS2486756723 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486757066 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486757155 |
KAT6A
|
Health Risk |
Likely pathogenic |
— |
| RS2486757248 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486757265 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486757650 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486757967 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486758062 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486758472 |
KAT6A
|
Health Risk |
Pathogenic |
KAT6A-related disorder, KAT6A-related disorder |
| RS2486758750 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486758839 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486759656 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486759732 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486760820 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486760881 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486761002 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486762991 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486763029 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486763031 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486763402 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486763479 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486763550 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486764038 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486764054 |
KAT6A
|
Health Risk |
Likely pathogenic |
— |
| RS2486768700 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486768855 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486768968 |
ANK1
|
Health Risk |
Pathogenic |
ANK1-related disorder, ANK1-related disorder |
| RS2486770675 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486773149 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486773436 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486773459 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486773580 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486775405 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486776386 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486776635 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486776816 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486776938 |
ANK1
|
Health Risk |
Pathogenic |
— |
| RS2486777288 |
KAT6A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2486777689 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS2486780520 |
POMK
|
Health Risk |
Likely pathogenic |
POMK-related disorder, POMK-related disorder |
| RS2486780804 |
POMK
|
Health Risk |
Pathogenic |
Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS2486780850 |
POMK
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS2486780969 |
POMK
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS2486781061 |
POMK
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a |
| RS2486781068 |
GATA4
|
Health Risk |
Pathogenic |
Atrioventricular septal defect 4, Atrioventricular septal defect 4 |
| RS2486784042 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486784145 |
KAT6A
|
Health Risk |
Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS2486784451 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486785822 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486789520 |
CUX1
|
Health Risk |
Likely pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486793601 |
DDHD2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54 |
| RS2486794097 |
ANK1
|
Health Risk |
Likely pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS2486794207 |
ANK1
|
Health Risk |
Pathogenic |
— |