"Sema4, Sema4"[submitter] AND "POLR1C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 909632	NM_006502.3(POLH):c.815T>C (p.Ile272Thr)	POLH, POLR1C (I272T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 356907	NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)	POLH, POLR1C (P418del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910558	NM_006502.3(POLH):c.1299C>A (p.Ala433=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910559	NM_006502.3(POLH):c.1406C>T (p.Ala469Val)	POLH, POLR1C (A469V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +1 more	GConflicting classifications of pathogenicity
Select item 749045	NM_006502.3(POLH):c.1473G>A (p.Gln491=)	POLH, POLR1C	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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

ClinVar