| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ABCA2, LOC126860796 (Q2038R +2 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with poor growth and with or without seizures or ataxia | |
| | | Deletion (inframe_indel +1 more) | 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) | 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) | 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 | |
| | | Deletion (frameshift 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) | 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 | |
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