| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Hedera type | |
| | ATP6AP2, LOC130068149 (A12V) | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant (synonymous variant) | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Hedera type | |
| | | Single nucleotide variant (synonymous variant) | Syndromic X-linked intellectual disability Hedera type | |
| | ATP6AP2, LOC130068149 (L7F) | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Hedera type +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene