"GeneReviews"[submitter] AND "POLH"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225444	NM_006502.3(POLH):c.490G>T (p.Glu164Ter)	POLH (E164*)	Single nucleotide variant (nonsense +1 more)	Xeroderma pigmentosum variant type +2 more	GPathogenic/Likely pathogenic
Select item 264680	NM_006502.3(POLH):c.725C>G (p.Ser242Ter)	POLH (S242* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 224062	NM_006502.3(POLH):c.764+1G>A	POLH	Single nucleotide variant (splice donor variant)	Xeroderma pigmentosum variant type +1 more	GPathogenic
Select item 5887	NM_006502.3(POLH):c.916G>T (p.Glu306Ter)	POLH (E306* +1 more)	Single nucleotide variant (nonsense)	Xeroderma pigmentosum variant type	GPathogenic
Select item 264682	NM_006502.2(POLH):c.1075-?_1244+?del	POLH	Deletion	Xeroderma pigmentosum variant type	GPathogenic
Select item 264681	NM_006502.3(POLH):c.1664del (p.Asn555fs)	POLH (N431fs +1 more)	Deletion (frameshift variant +1 more)	Xeroderma pigmentosum variant type	Gnot provided

ClinVar