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Items: 1 to 100 of 167

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAL, CATSPER2
+69 more
Copy number loss
See cases
GLikely pathogenic
ADAL, CCNDBP1
+18 more
Copy number loss
See cases
GPathogenic
TGM5
Single nucleotide variant
(3 prime UTR variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(3 prime UTR variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(3 prime UTR variant)
Acral peeling skin syndrome
GBenign
TGM5
Single nucleotide variant
(3 prime UTR variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(stop lost)
Acral peeling skin syndrome
GLikely pathogenic
TGM5
(G628D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(A598T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(F588L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TGM5
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TGM5
(V575A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TGM5
(D652E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(S565L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(I559T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(V549I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TGM5
(V549L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TGM5
(T541M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TGM5
(K608E +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GBenign
TGM5
(E607A +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
+1 more
GBenign/Likely benign
TGM5
(E525K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(S604fs +1 more)
Indel
(frameshift variant)
Acral peeling skin syndrome
GPathogenic
TGM5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TGM5
(Y584H +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(intron variant)
not provided
GBenign
TGM5
Single nucleotide variant
(intron variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(F564L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TGM5
(T562A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(P557L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(L473P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(S462R +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TGM5
(N460K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(Q453H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(Q521R +1 more)
Single nucleotide variant
(missense variant)
TGM5-related disorder
+1 more
GBenign
TGM5
(N436S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(N436D +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(Q424H +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(V504M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TGM5
(S502R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(R500* +1 more)
Single nucleotide variant
(nonsense)
Acral peeling skin syndrome
GUncertain significance
TGM5
(R410Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(P491S +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(Q473H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TGM5
(Q370L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(K445N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM5
(R437W +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GBenign
TGM5
(D435fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TGM5
(T347K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(Q418K +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TGM5
(S315W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TGM5
(P311A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
TGM5
(T310M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TGM5
(K300R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(V288I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TGM5
Single nucleotide variant
(intron variant)
Acral peeling skin syndrome
+1 more
GBenign
TGM5
Single nucleotide variant
(intron variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(M366I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
+1 more
GConflicting classifications of pathogenicity
TGM5
(A352G +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
+1 more
GBenign
TGM5
(R346W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGM5
(W257* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TGM5
Single nucleotide variant
(intron variant)
not provided
GBenign
TGM5
Single nucleotide variant
(intron variant)
not provided
GBenign
TGM5
Deletion
(splice donor variant)
not provided
GPathogenic
TGM5
(K330M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
+1 more
GBenign
TGM5
(E316K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGM5
(G228E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(D307N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(D221N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(I299M +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(intron variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(intron variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(intron variant)
not provided
GBenign
TGM5
(M285T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(V202I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TGM5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(Q195* +1 more)
Single nucleotide variant
(nonsense)
Acral peeling skin syndrome
GLikely pathogenic
TGM5
Single nucleotide variant
(synonymous variant)
TGM5-related disorder
GLikely benign
TGM5
(R274H +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(R192S +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(S176R +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Acral peeling skin syndrome
GUncertain significance
TGM5
(W255R +1 more)
Single nucleotide variant
(missense variant)
Acral peeling skin syndrome
GPathogenic
TGM5
(A171V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
Peeling skin syndrome 1
GUncertain significance
TGM5
Single nucleotide variant
(synonymous variant)
TGM5-related disorder
GLikely benign
TGM5
(S161T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGM5
(N241K +1 more)
Single nucleotide variant
(missense variant)
TGM5-related disorder
+2 more
GConflicting classifications of pathogenicity
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