| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | | Deletion (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more | |
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