C2675481[trait identifier] AND "GenomeConnect - Invitae Patient Insigh - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408058	NM_002691.4(POLD1):c.257C>T (p.Ala86Val)	POLD1 (A86V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 239345	NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)	POLD1 (S118F)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 407970	NM_002691.4(POLD1):c.367C>T (p.Pro123Ser)	POLD1 (P123S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 407963	NM_002691.4(POLD1):c.511G>T (p.Ala171Ser)	POLD1 (A171S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 537100	NM_002691.4(POLD1):c.623C>T (p.Pro208Leu)	POLD1 (P208L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 246387	NM_002691.4(POLD1):c.934G>A (p.Val312Met)	POLD1 (V312M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 408024	NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu)	POLD1 (P347L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance
Select item 239244	NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)	POLD1 (R521Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +4 more	GConflicting classifications of pathogenicity
Select item 847974	NM_002691.4(POLD1):c.2434C>A (p.Leu812Met)	POLD1 (L838M +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 469265	NM_002691.4(POLD1):c.2458G>A (p.Ala820Thr)	POLD1 (A820T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +1 more	GUncertain significance
Select item 239295	NM_002691.4(POLD1):c.2470A>G (p.Met824Val)	POLD1 (M824V +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +2 more	GUncertain significance