Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DPH2, LOC126805726 (R134fs +5 more) | Deletion (frameshift variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | |
| | | Single nucleotide variant (nonsense +2 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | |
| | DPH2, LOC126805726 (R249* +6 more) | Single nucleotide variant (nonsense) | diphthamide-deficiency syndrome | |
| | DPH2, LOC126805726 (R125C +4 more) | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 +3 more | GConflicting classifications of pathogenicity |
| | DPH2, LOC126805726 (Q115* +5 more) | Single nucleotide variant (nonsense +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 +3 more | GConflicting classifications of pathogenicity |
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