| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Oculocutaneous albinism type 4 +3 more | |
| | AMACR, C1QTNF3-AMACR
+1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Oculocutaneous albinism +3 more | |
| | AMACR, C1QTNF3-AMACR
+1 more | Single nucleotide variant (non-coding transcript variant +2 more) | Congenital bile acid synthesis defect 4 +3 more | |
| | AMACR, C1QTNF3-AMACR
+1 more (E277K) | Single nucleotide variant (non-coding transcript variant +2 more) | Oculocutaneous albinism +4 more | |
Click to view in NCBI Gene