| | | Single nucleotide variant (nonsense +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (intron variant) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Duplication (splice donor variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 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 (intron variant) | 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 +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more | GPathogenic/Likely pathogenic |