C3715192[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 407998	NM_002691.4(POLD1):c.34G>A (p.Gly12Arg)	POLD1 (G12R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 570525	NM_002691.4(POLD1):c.652C>T (p.Arg218Cys)	POLD1 (R218C)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +1 more	GUncertain significance
Select item 408003	NM_002691.4(POLD1):c.1607C>T (p.Ala536Val)	POLD1 (A536V)	Single nucleotide variant (missense variant +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome +3 more	GUncertain significance
Select item 60775	NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)	POLD1 (S605del +1 more)	Microsatellite (inframe_deletion +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GPathogenic
Select item 2435144	NM_002691.4(POLD1):c.1854C>G (p.Tyr618Ter)	POLD1 (Y618* +1 more)	Single nucleotide variant (nonsense +1 more)	Mandibular hypoplasia-deafness-progeroid syndrome	GUncertain significance
Select item 421519	NM_002691.4(POLD1):c.2565-3C>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10 +3 more	GUncertain significance

ClinVar