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Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSG1-AS1, DSG4
(T43fs)
Deletion
(frameshift variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
(D323G)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GPathogenic
DSG1-AS1, DSG4
Single nucleotide variant
(splice donor variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(Y585H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(T552K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(H902R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DSG1-AS1, DSG4
(S456P)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(L143R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(R133Q)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(G796V +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GUncertain significance
DSG1-AS1, DSG4
(A770T +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
DSG4-related condition
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(G400E)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(I398K)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(P383L)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(3 prime UTR variant)
Hypotrichosis 6
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(3 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(3 prime UTR variant)
Hypotrichosis 6
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(3 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(H1036Y +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(A756S +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(A702T)
Single nucleotide variant
(missense variant +1 more)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
DSG4-related condition
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(S79L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(A154T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
(N932S +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(N327S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign/Likely benign
DSG4, DSG1-AS1
(A808V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(R1031* +1 more)
Single nucleotide variant
(nonsense)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(D976fs +1 more)
Deletion
(frameshift variant)
Hypotrichosis 6
GUncertain significance
DSG4, DSG1-AS1
(G400R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG4, DSG1-AS1
Single nucleotide variant
(3 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
DSG1-AS1, DSG4
(M1023I +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
(S1008N +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(M1007T +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GUncertain significance
DSG1-AS1, DSG4
(T982M +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(N932K +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
(D926G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
(G912D +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(G912S +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(Y911H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DSG1-AS1, DSG4
(P854S +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
(T765A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
(R759T +1 more)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+2 more
GConflicting classifications of pathogenicity
DSG4, DSG1-AS1
(E672G)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(I644L)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(I535T)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
(N496S)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
(C494R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+2 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(G462R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(I439T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
DSG1-AS1, DSG4
(H386Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(D319N)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
(L310I)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(Y307C)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(Y307D)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DSG1-AS1, DSG4
(G239S)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(I210F)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(K197R)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
(Y196C)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DSG1-AS1, DSG4
(R139S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DSG1-AS1, DSG4
(I87L)
Single nucleotide variant
(missense variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
(R59Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+1 more
GBenign
DSG1-AS1, DSG4
Single nucleotide variant
(synonymous variant)
Hypotrichosis 6
+2 more
GBenign/Likely benign
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
+1 more
GConflicting classifications of pathogenicity
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
DSG1-AS1, DSG4
Single nucleotide variant
(5 prime UTR variant)
Hypotrichosis 6
GUncertain significance
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