| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel (missense variant +2 more) | Noonan syndrome-like disorder with loose anagen hair 1 | |
| | TBC1D7-LOC100130357, LOC100130357 +1 more (R521C +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Microcephaly, short stature, and impaired glucose metabolism 2 | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
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