| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA2, LOC126860796 (Y2012H +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
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