"POLH-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692918	NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)	POLH, POLR1C (R210G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2431387	NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)	POLH, POLR1C (T284fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type +2 more	GPathogenic/Likely pathogenic
Select item 911796	NM_006502.3(POLH):c.1572A>C (p.Gln524His)	POLH, POLR1C (Q400H +1 more)	Single nucleotide variant (missense variant +1 more)	POLH-related disorder +3 more	GLikely benign
Select item 5894	NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)	POLH, POLR1C (K535E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GBenign/Likely 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 2656608	NM_006502.3(POLH):c.2007A>G (p.Ser669=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 356915	NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr)	POLH, POLR1C (S675Y +1 more)	Single nucleotide variant (missense variant +2 more)	Xeroderma pigmentosum variant type +3 more	GConflicting classifications of pathogenicity

ClinVar