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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPC
(V620I +4 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
+1 more
GConflicting classifications of pathogenicity
XPC
(H612R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XPC
(H459P +3 more)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
XPC
(R458Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XPC
(S256G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XPC
(R393W +2 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group C
+3 more
GUncertain significance
XPC
(I176R +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
LOC129936244, XPC
Microsatellite
(5 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
LOC129936244, XPC
(G13R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum, group C
+2 more
GUncertain significance
LOC129936244, XPC
(G9V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum, group C
+1 more
GUncertain significance
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