| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GHRL, GHRLOS (Q90L +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GHRL, GHRLOS (L72M +3 more) | Single nucleotide variant (missense variant +1 more) | Obesity +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARPC4, ARPC4-TTLL3 +39 more | Copy number loss | See cases | |
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