| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Tietz syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Tietz syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | MITF-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | Melanoma, cutaneous malignant, susceptibility to, 8 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Waardenburg syndrome type 2A +4 more | |
| | | Single nucleotide variant (synonymous variant) | Tietz syndrome +4 more | |
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