| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Insertion (frameshift variant +1 more) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Duplication (frameshift variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Argininosuccinate lyase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Deletion (inframe_deletion +1 more) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Duplication (frameshift variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |