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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPC
(K734N +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R715P +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(D692H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R671P +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R665G +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+1 more
GUncertain significance
XPC
(R761Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(W632R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(S611P +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(I706V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R782H +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group C
+2 more
GUncertain significance
XPC
(E562V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R713H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
XPC
(R711C +4 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group C
+1 more
GUncertain significance
XPC
(V705G +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(V504L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(H570R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(N643S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(K613E +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(V388I +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(T370N +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(C558Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(R482H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(P271L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
XPC
(P262A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R423W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
XPC
(P224L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R185K +2 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum
+3 more
GConflicting classifications of pathogenicity
XPC
(P360T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(F296V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XPC
(R241Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
XPC
(E185K +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(Q172E +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(P170T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(N113S +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(M112V +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum
+1 more
GConflicting classifications of pathogenicity
XPC
(L106R +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC
(V81L +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum, group C
+2 more
GUncertain significance
XPC
(G64E +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
XPC, LOC129936244
(A6G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
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