"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 221055	NM_002691.4(POLD1):c.56G>A (p.Arg19His)	POLD1 (R19H)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 245862	NM_002691.4(POLD1):c.80A>T (p.Asp27Val)	POLD1 (D27V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GConflicting classifications of pathogenicity
Select item 221163	NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)	POLD1 (R30W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 380633	NM_002691.4(POLD1):c.234C>G (p.Arg78=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 221138	NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)	POLD1 (A145T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 380235	NM_002691.4(POLD1):c.463+9C>T	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 380634	NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)	POLD1 (S173N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 220697	NM_002691.4(POLD1):c.849G>T (p.Gln283His)	POLD1 (Q283H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 221136	NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)	POLD1 (G321S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 380635	NM_002691.4(POLD1):c.971-12C>T	POLD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 220754	NM_002691.4(POLD1):c.1138-8A>G	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 380706	NM_002691.4(POLD1):c.1173C>T (p.Asp391=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 220965	NM_002691.4(POLD1):c.1275C>T (p.Ala425=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 380636	NM_002691.4(POLD1):c.1539G>A (p.Leu513=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 380637	NM_002691.4(POLD1):c.1548C>T (p.Ala516=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 220890	NM_002691.4(POLD1):c.1620C>T (p.Gly540=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10 +3 more	GBenign/Likely benign
Select item 380638	NM_002691.4(POLD1):c.1860G>A (p.Thr620=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 221165	NM_002691.4(POLD1):c.1977C>T (p.Ile659=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 218562	NM_002691.4(POLD1):c.2007-4G>A	POLD1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 239269	NM_002691.4(POLD1):c.2052G>C (p.Gln684His)	POLD1 (Q684H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 246171	NM_002691.4(POLD1):c.2178G>C (p.Gln726His)	POLD1 (Q726H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 220865	NM_002691.4(POLD1):c.2546G>A (p.Arg849His)	POLD1 (R849H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 414782	NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)	POLD1 (V867I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 221052	NM_002691.4(POLD1):c.2862G>C (p.Thr954=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 220823	NM_002691.4(POLD1):c.2967G>A (p.Thr989=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 439258	NM_002691.4(POLD1):c.3218+9C>T	POLD1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26