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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1C, POLH
(E164*)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum variant type
+2 more
GPathogenic/Likely pathogenic
POLH, POLR1C
(S242* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
POLR1C, POLH
Single nucleotide variant
(intron variant +1 more)
Xeroderma pigmentosum variant type
+1 more
GPathogenic
POLH, POLR1C
(E306* +1 more)
Single nucleotide variant
(nonsense +1 more)
Xeroderma pigmentosum variant type
GPathogenic
POLH, POLR1C
Deletion
Xeroderma pigmentosum variant type
GPathogenic
POLR1C, POLH
(N431fs +1 more)
Deletion
(frameshift variant +2 more)
Xeroderma pigmentosum variant type
Gnot provided
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