| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ATP6V0A2, LOC126861666 (I597V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | ATP6V0A2, LOC126861666 (K608E) | Single nucleotide variant (missense variant) | ALG9 congenital disorder of glycosylation +2 more | |
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