ClinVar for MedGen (Select 436445) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022279	NM_002691.4(POLD1):c.2485C>T (p.Leu829=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3021377	NM_002691.4(POLD1):c.1893-19C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3021003	NM_002691.4(POLD1):c.3206T>A (p.Val1069Asp)	POLD1 (V1095D +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3020600	NM_002691.4(POLD1):c.320C>T (p.Pro107Leu)	POLD1 (P107L)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3019875	NM_002691.4(POLD1):c.2713G>C (p.Glu905Gln)	POLD1 (E931Q +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3019018	NM_002691.4(POLD1):c.2155-12T>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3017446	NM_002691.4(POLD1):c.2821-17C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3015807	NM_002691.4(POLD1):c.203-19C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3014196	NM_002691.4(POLD1):c.2592A>G (p.Ala864=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3013396	NM_002691.4(POLD1):c.2120A>G (p.Gln707Arg)	POLD1 (Q733R +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3011094	NM_002691.4(POLD1):c.978C>T (p.Phe326=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3010812	NM_002691.4(POLD1):c.2954-2delinsCG	POLD1	Indel (splice acceptor variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3010753	NM_002691.4(POLD1):c.578G>A (p.Cys193Tyr)	POLD1 (C193Y)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3008491	NM_002691.4(POLD1):c.1283G>T (p.Cys428Phe)	POLD1 (C428F)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3006947	NM_002691.4(POLD1):c.688G>T (p.Gly230Cys)	POLD1 (G230C)	Single nucleotide variant (non-coding transcript variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3005779	NM_002691.4(POLD1):c.1265G>A (p.Gly422Asp)	POLD1 (G422D)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3004684	NM_002691.4(POLD1):c.2007-18C>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3004016	NM_002691.4(POLD1):c.3078_3079del (p.Cys1026_Glu1027delinsTer)	POLD1	Microsatellite (nonsense +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3002696	NM_002691.4(POLD1):c.2454dup (p.Asp819fs)	POLD1 (D819fs +1 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3002041	NM_002691.4(POLD1):c.3068-10C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 3000332	NM_002691.4(POLD1):c.36G>T (p.Gly12=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2998753	NM_002691.4(POLD1):c.971-19G>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2998332	NM_002691.4(POLD1):c.2564+8G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2996911	NM_002691.4(POLD1):c.3231C>A (p.Pro1077=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2993590	NM_002691.4(POLD1):c.3303C>T (p.Pro1101=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2993289	NM_002691.4(POLD1):c.3068-16A>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2991917	NM_002691.4(POLD1):c.1616C>G (p.Thr539Ser)	POLD1 (T539S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2990983	NM_002691.4(POLD1):c.404T>C (p.Phe135Ser)	POLD1 (F135S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2989388	NM_002691.4(POLD1):c.2251-16T>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2989261	NM_002691.4(POLD1):c.1322C>G (p.Thr441Arg)	POLD1 (T441R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2989157	NM_002691.4(POLD1):c.298G>A (p.Glu100Lys)	POLD1 (E100K)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2988309	NM_002691.4(POLD1):c.878C>T (p.Ser293Phe)	POLD1 (S293F)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2987081	NM_002691.4(POLD1):c.1495-14G>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2982742	NM_002691.4(POLD1):c.2977A>G (p.Thr993Ala)	POLD1 (T993A +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2975093	NM_002691.4(POLD1):c.3067+17A>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2974160	NM_002691.4(POLD1):c.3121-2A>C	POLD1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2970132	NM_002691.4(POLD1):c.1776-10C>A	POLD1 (S615Y)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2968340	NM_002691.4(POLD1):c.1132C>T (p.Leu378=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2965290	NM_002691.4(POLD1):c.463+12C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2965084	NM_002691.4(POLD1):c.1241A>G (p.Lys414Arg)	POLD1 (K414R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2963388	NM_002691.4(POLD1):c.2851C>G (p.Pro951Ala)	POLD1 (P951A +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2955248	NM_002691.4(POLD1):c.797T>G (p.Leu266Arg)	POLD1 (L266R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2955057	NM_002691.4(POLD1):c.2917A>G (p.Ile973Val)	POLD1 (I973V +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2954978	NM_002691.4(POLD1):c.1407C>G (p.Leu469=)	POLD1	Single nucleotide variant (non-coding transcript variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2919914	NM_002691.4(POLD1):c.1137+12T>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2919155	NM_002691.4(POLD1):c.3219-18C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2918011	NM_002691.4(POLD1):c.2155-19A>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2917572	NM_002691.4(POLD1):c.1495-19C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2916537	NM_002691.4(POLD1):c.971-3C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2916468	NM_002691.4(POLD1):c.521G>C (p.Arg174Pro)	POLD1 (R174P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2916418	NM_002691.4(POLD1):c.2250+3C>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2916314	NM_002691.4(POLD1):c.1775+15T>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2915603	NM_002691.4(POLD1):c.462del (p.Gly155fs)	POLD1 (G155fs)	Deletion (frameshift variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2914705	NM_002691.4(POLD1):c.2250+8G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2912363	NM_002691.4(POLD1):c.2717+19G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2912360	NM_002691.4(POLD1):c.758+12G>C	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2910790	NM_002691.4(POLD1):c.1494+8C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2910022	NM_002691.4(POLD1):c.1776-17G>C	POLD1 (G613R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2909622	NM_002691.4(POLD1):c.3300del (p.Pro1102fs)	POLD1 (P1102fs +1 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2908965	NM_002691.4(POLD1):c.925C>T (p.Pro309Ser)	POLD1 (P309S)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2907146	NM_002691.4(POLD1):c.2052G>A (p.Gln684=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2905486	NM_002691.4(POLD1):c.1665C>G (p.Val555=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2903800	NM_002691.4(POLD1):c.1892+4dup	POLD1	Duplication (intron variant)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2903030	NM_002691.4(POLD1):c.2089G>A (p.Ala697Thr)	POLD1 (A697T +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2902906	NM_002691.4(POLD1):c.27_32del (p.7PG[2])	POLD1	Deletion (inframe_deletion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2902614	NM_002691.4(POLD1):c.1384-13_1384-11dup	POLD1	Duplication (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2902456	NM_002691.4(POLD1):c.1086C>T (p.Pro362=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2899914	NM_002691.4(POLD1):c.840G>C (p.Lys280Asn)	POLD1 (K280N)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2899007	NM_002691.4(POLD1):c.1384-20C>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2898622	NM_002691.4(POLD1):c.1947C>T (p.Thr649=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2897627	NM_002691.4(POLD1):c.970+16C>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2895128	NM_002691.4(POLD1):c.2475C>A (p.Asp825Glu)	POLD1 (D851E +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2894543	NM_002691.4(POLD1):c.2969G>C (p.Arg990Pro)	POLD1 (R1016P +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2893801	NM_002691.4(POLD1):c.2388+18G>A	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2893044	NM_002691.4(POLD1):c.1256C>G (p.Pro419Arg)	POLD1 (P419R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2891656	NM_002691.4(POLD1):c.1435T>A (p.Phe479Ile)	POLD1 (F479I)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2891464	NM_002691.4(POLD1):c.1861C>T (p.Leu621Phe)	POLD1 (L647F +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2890907	NM_002691.4(POLD1):c.871C>T (p.Leu291=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2890244	NM_002691.4(POLD1):c.317-4A>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2888139	NM_002691.4(POLD1):c.1893-16A>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2885777	NM_002691.4(POLD1):c.579C>T (p.Cys193=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2885259	NM_002691.4(POLD1):c.3094C>G (p.Arg1032Gly)	POLD1 (R1032G +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2884701	NM_002691.4(POLD1):c.2492C>T (p.Ala831Val)	POLD1 (A831V +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2882832	NM_002691.4(POLD1):c.1229C>T (p.Ala410Val)	POLD1 (A410V)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2880155	NM_002691.4(POLD1):c.3121-10C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2878957	NM_002691.4(POLD1):c.1775+8C>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2878561	NM_002691.4(POLD1):c.1383+20T>G	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2877891	NM_002691.4(POLD1):c.1776-19G>C	POLD1 (R612P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2873163	NM_002691.4(POLD1):c.272C>T (p.Thr91Ile)	POLD1 (T91I)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2871347	NM_002691.4(POLD1):c.348A>G (p.Pro116=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2870624	NM_002691.4(POLD1):c.35G>A (p.Gly12Glu)	POLD1 (G12E)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2868619	NM_002691.4(POLD1):c.1481T>C (p.Ile494Thr)	POLD1 (I494T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2867286	NM_002691.4(POLD1):c.2457C>G (p.Asp819Glu)	POLD1 (D845E +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2867041	NM_002691.4(POLD1):c.2254G>A (p.Val752Met)	POLD1 (V778M +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2866603	NM_002691.4(POLD1):c.3294C>G (p.Arg1098=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2866141	NM_002691.4(POLD1):c.123G>A (p.Met41Ile)	POLD1 (M41I)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2864364	NM_002691.4(POLD1):c.2629G>C (p.Asp877His)	POLD1 (D877H +1 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2864302	NM_002691.4(POLD1):c.424C>T (p.His142Tyr)	POLD1 (H142Y)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 2863842	NM_002691.4(POLD1):c.1495-18A>T	POLD1	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 10	GLikely benign
Select item 2863011	NM_002691.4(POLD1):c.1676T>C (p.Leu559Pro)	POLD1 (L559P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance

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