| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair | |
| | | Deletion (inframe_deletion +1 more) | not specified +1 more | |
| | | Duplication (splice donor variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Copy number gain | Chromosome 17P13.3, telomeric, duplication syndrome | |
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