Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant) | Melanoma | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Capillary malformation +7 more | GPathogenic/Likely pathogenic |
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