Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome | |
| | | Single nucleotide variant (missense variant) | Palmoplantar keratoderma i, striate, focal, or diffuse +2 more | |
| | | Single nucleotide variant (missense variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Severe dermatitis-multiple allergies-metabolic wasting syndrome +1 more | GPathogenic/Likely pathogenic |
| | DSG1-AS1, LOC126862720 +1 more (I739T) | Single nucleotide variant (non-coding transcript variant +1 more) | Palmoplantar keratoderma i, striate, focal, or diffuse +2 more | |
| | LOC126862720, DSG1 +1 more | Single nucleotide variant (synonymous variant) | Palmoplantar keratoderma i, striate, focal, or diffuse +2 more | |
| | DSG1, DSG1-AS1 +1 more (Y841F) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome +3 more | |
| | | Deletion (frameshift variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Severe dermatitis-multiple allergies-metabolic wasting syndrome | |
Click to view in NCBI Gene