"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "POLH"[gene - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356897	NM_006502.3(POLH):c.-5+3A>G	LOC129996521, POLH +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1692931	NM_006502.3(POLH):c.413C>T (p.Ser138Leu)	POLH, POLR1C (S138L)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GUncertain significance
Select item 356899	NM_006502.3(POLH):c.491-4T>G	POLR1C, POLH	Single nucleotide variant (intron variant)	Xeroderma pigmentosum variant type +1 more	GConflicting classifications of pathogenicity
Select item 259990	NM_006502.3(POLH):c.626G>T (p.Gly209Val)	POLH, POLR1C (G209V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum variant type +3 more	GBenign/Likely benign
Select item 909632	NM_006502.3(POLH):c.815T>C (p.Ile272Thr)	POLH, POLR1C (I272T +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum +2 more	GConflicting classifications of pathogenicity
Select item 3027177	NM_006502.3(POLH):c.1131C>T (p.Arg377=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 356914	NM_006502.3(POLH):c.1896A>G (p.Gln632=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 2397583	NM_006502.3(POLH):c.1952T>C (p.Met651Thr)	POLH, POLR1C (M527T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2656608	NM_006502.3(POLH):c.2007A>G (p.Ser669=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	POLH-related condition +1 more	GLikely benign
Select item 356916	NM_006502.3(POLH):c.2028C>T (p.Ala676=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	Xeroderma pigmentosum variant type +2 more	GBenign/Likely benign
Select item 870901	NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)	POLH, POLR1C (T568A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2656609	NM_006502.3(POLH):c.2076T>G (p.Thr692=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign