"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 910446	NM_203290.4(POLR1C):c.490G>A (p.Val164Met)	POLR1C (V164M)	Single nucleotide variant (missense variant)	POLR1C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 259990	NM_006502.3(POLH):c.626G>T (p.Gly209Val)	POLR1C, POLH (G209V +1 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum +3 more	GBenign/Likely benign
Select item 1174862	NM_006502.3(POLH):c.890G>A (p.Trp297Ter)	POLH, POLR1C (W173* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1206397	NM_003376.6(VEGFA):c.64C>T (p.Arg22Trp)	POLR1C, VEGFA (R22W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 136215	NM_020745.4(AARS2):c.2253G>A (p.Gly751=)	AARS2, POLR1C	Single nucleotide variant (synonymous variant)	AARS2-related disorder +3 more	GBenign/Likely benign

ClinVar