Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Familial partial lipodystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 +9 more | |
| | | Single nucleotide variant (missense variant) | Lethal tight skin contracture syndrome +12 more | |
| | | Single nucleotide variant (intron variant) | Lethal tight skin contracture syndrome +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hutchinson-Gilford syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hutchinson-Gilford syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Emery-Dreifuss muscular dystrophy +9 more | |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy +16 more | |
Click to view in NCBI Gene