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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG1
(L539V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
DSG1, LOC126862720
+1 more
(I739T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe dermatitis-multiple allergies-metabolic wasting syndrome
+2 more
GBenign/Likely benign
LOC126862720, DSG1
+1 more
Single nucleotide variant
(synonymous variant)
Palmoplantar keratoderma i, striate, focal, or diffuse
+2 more
GBenign/Likely benign
DSG1, DSG1-AS1
(V1045M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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