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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPC
(R718* +4 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum
+2 more
GPathogenic/Likely pathogenic
XPC
Single nucleotide variant
(splice donor variant +1 more)
Xeroderma pigmentosum, group C
+1 more
GPathogenic/Likely pathogenic
XPC
(R223C +2 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group C
GUncertain significance
XPC
(R121W +2 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group C
GUncertain significance
XPC
(A263G +2 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum, group C
GUncertain significance
XPC
(V81L +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Xeroderma pigmentosum, group C
+2 more
GUncertain significance
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