| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Tietz syndrome +2 more | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | MITF-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MITF-related disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Tietz syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hearing impairment | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary breast ovarian cancer syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Tietz syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Tietz syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Tietz syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
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