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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLH, POLR1C
(R167* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
POLH, POLR1C
(G209V +1 more)
Single nucleotide variant
(missense variant +1 more)
Xeroderma pigmentosum variant type
+3 more
GBenign/Likely benign
POLH, POLR1C
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
POLH, POLR1C
(M595V +1 more)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum variant type
+2 more
GBenign/Likely benign
POLH, POLR1C
(M647L +1 more)
Single nucleotide variant
(missense variant +2 more)
Xeroderma pigmentosum variant type
+2 more
GBenign
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