| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC130057888, MESP1 (F223L) | Single nucleotide variant (missense variant) | MESP1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | MESP1-related disorder +1 more | |
| | LOC130057888, MESP1 (R217H) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130057888, MESP1 (M174V) | Single nucleotide variant (missense variant) | MESP1-related disorder +1 more | |
| | LOC130057888, MESP1 (D168G) | Single nucleotide variant (missense variant) | MESP1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | MESP1-related disorder | |
| | LOC130057888, MESP1 (C151W) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130057888, MESP1 (E145D) | Single nucleotide variant (missense variant) | MESP1-related disorder +1 more | |
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