ClinVar for Gene (Select 5424) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252638	NM_002691.4(POLD1):c.91C>T (p.Pro31Ser)	POLD1 (P31S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3248477	NC_000019.9:g.(?_50903077)_(50910587_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248476	NC_000019.9:g.(?_50919077)_(50920308_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248475	NC_000019.9:g.(?_50905025)_(50906864_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248474	NC_000019.9:g.(?_50713623)_(50902761_?)dup	KCNC3, MYH14 +3 more	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248473	NC_000019.9:g.(?_50887648)_(50921204_?)dup	POLD1	Duplication	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248471	NC_000019.9:g.(?_50904019)_(50905638_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248470	NC_000019.9:g.(?_50905015)_(50906874_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3248469	NC_000019.9:g.(?_50902109)_(50912943_?)del	POLD1	Deletion	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3240168	NM_002691.4(POLD1):c.1514GCC[4] (p.Arg507_Leu508insArg)	POLD1	Microsatellite (inframe_insertion +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3240167	NM_002691.4(POLD1):c.1606G>A (p.Ala536Thr)	POLD1 (A536T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to, 10	GUncertain significance
Select item 3222754	NM_002691.4(POLD1):c.939C>T (p.Leu313=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222753	NM_002691.4(POLD1):c.932G>C (p.Arg311Pro)	POLD1 (R311P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222752	NM_002691.4(POLD1):c.875G>T (p.Trp292Leu)	POLD1 (W292L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222751	NM_002691.4(POLD1):c.863C>G (p.Ala288Gly)	POLD1 (A288G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222750	NM_002691.4(POLD1):c.776A>T (p.Asp259Val)	POLD1 (D259V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222749	NM_002691.4(POLD1):c.776A>G (p.Asp259Gly)	POLD1 (D259G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222748	NM_002691.4(POLD1):c.749T>C (p.Phe250Ser)	POLD1 (F250S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222747	NM_002691.4(POLD1):c.724G>T (p.Ala242Ser)	POLD1 (A242S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222746	NM_002691.4(POLD1):c.696T>C (p.Arg232=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222745	NM_002691.4(POLD1):c.677T>A (p.Leu226His)	POLD1 (L226H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222741	NM_002691.4(POLD1):c.512C>G (p.Ala171Gly)	POLD1 (A171G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222740	NM_002691.4(POLD1):c.40C>G (p.Pro14Ala)	POLD1 (P14A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222739	NM_002691.4(POLD1):c.350C>T (p.Pro117Leu)	POLD1 (P117L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222738	NM_002691.4(POLD1):c.3312T>C (p.Pro1104=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222737	NM_002691.4(POLD1):c.3299G>A (p.Gly1100Glu)	POLD1 (G1100E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222735	NM_002691.4(POLD1):c.3222G>A (p.Arg1074=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222734	NM_002691.4(POLD1):c.3212G>A (p.Cys1071Tyr)	POLD1 (C1071Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222733	NM_002691.4(POLD1):c.3164G>C (p.Trp1055Ser)	POLD1 (W1055S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222732	NM_002691.4(POLD1):c.3162C>T (p.Leu1054=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222731	NM_002691.4(POLD1):c.3145G>A (p.Glu1049Lys)	POLD1 (E1049K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222730	NM_002691.4(POLD1):c.3071C>G (p.Ala1024Gly)	POLD1 (A1024G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222729	NM_002691.4(POLD1):c.3070G>T (p.Ala1024Ser)	POLD1 (A1024S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222728	NM_002691.4(POLD1):c.2980G>A (p.Val994Met)	POLD1 (V1020M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222727	NM_002691.4(POLD1):c.2876A>T (p.Glu959Val)	POLD1 (E959V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222726	NM_002691.4(POLD1):c.2783G>A (p.Ser928Asn)	POLD1 (S928N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222725	NM_002691.4(POLD1):c.2747C>T (p.Pro916Leu)	POLD1 (P916L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222724	NM_002691.4(POLD1):c.2575G>T (p.Gly859Cys)	POLD1 (G859C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222723	NM_002691.4(POLD1):c.2533A>G (p.Thr845Ala)	POLD1 (T845A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222722	NM_002691.4(POLD1):c.2457C>A (p.Asp819Glu)	POLD1 (D819E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222721	NM_002691.4(POLD1):c.241C>G (p.Arg81Gly)	POLD1 (R81G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222720	NM_002691.4(POLD1):c.2362T>C (p.Ser788Pro)	POLD1 (S788P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222719	NM_002691.4(POLD1):c.2353C>T (p.His785Tyr)	POLD1 (H785Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222718	NM_002691.4(POLD1):c.2268T>C (p.Thr756=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222717	NM_002691.4(POLD1):c.2262T>C (p.Gly754=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222716	NM_002691.4(POLD1):c.2240C>A (p.Thr747Asn)	POLD1 (T747N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222715	NM_002691.4(POLD1):c.2200C>G (p.Leu734Val)	POLD1 (L734V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222714	NM_002691.4(POLD1):c.2165G>C (p.Gly722Ala)	POLD1 (G722A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222713	NM_002691.4(POLD1):c.2131T>C (p.Leu711=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222712	NM_002691.4(POLD1):c.2067G>C (p.Arg689=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222711	NM_002691.4(POLD1):c.2044C>G (p.Arg682Gly)	POLD1 (R682G +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222710	NM_002691.4(POLD1):c.2040C>G (p.Pro680=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222709	NM_002691.4(POLD1):c.2025C>A (p.Ala675=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222708	NM_002691.4(POLD1):c.2020C>G (p.Leu674Val)	POLD1 (L674V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222707	NM_002691.4(POLD1):c.1970C>T (p.Pro657Leu)	POLD1 (P657L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222706	NM_002691.4(POLD1):c.1886A>G (p.Lys629Arg)	POLD1 (K629R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222704	NM_002691.4(POLD1):c.1833G>T (p.Met611Ile)	POLD1 (M611I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222703	NM_002691.4(POLD1):c.1761C>A (p.Ile587=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222702	NM_002691.4(POLD1):c.1722G>A (p.Lys574=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222701	NM_002691.4(POLD1):c.1710G>T (p.Met570Ile)	POLD1 (M570I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222700	NM_002691.4(POLD1):c.1588G>C (p.Val530Leu)	POLD1 (V530L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222698	NM_002691.4(POLD1):c.1506C>G (p.Asp502Glu)	POLD1 (D502E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222697	NM_002691.4(POLD1):c.1472A>G (p.His491Arg)	POLD1 (H491R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222696	NM_002691.4(POLD1):c.1443_1445delinsTCA (p.Leu482Gln)	POLD1 (L482Q)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222695	NM_002691.4(POLD1):c.1386G>A (p.Val462=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222694	NM_002691.4(POLD1):c.1322C>A (p.Thr441Lys)	POLD1 (T441K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222693	NM_002691.4(POLD1):c.1277G>C (p.Gly426Ala)	POLD1 (G426A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222692	NM_002691.4(POLD1):c.1276G>C (p.Gly426Arg)	POLD1 (G426R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222690	NM_002691.4(POLD1):c.1236C>T (p.Thr412=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222689	NM_002691.4(POLD1):c.1129C>T (p.Leu377=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222688	NM_002691.4(POLD1):c.1007A>G (p.Gln336Arg)	POLD1 (Q336R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076180	NM_002691.4(POLD1):c.347dup (p.Pro117fs)	POLD1 (P117fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076179	NM_002691.4(POLD1):c.2718-12A>C	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076178	NM_002691.4(POLD1):c.2718-11T>C	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076176	NM_002691.4(POLD1):c.1384-14A>C	POLD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3058184	NM_002691.4(POLD1):c.1495-15C>G	POLD1	Single nucleotide variant (intron variant)	POLD1-related disorder	GLikely benign
Select item 3054371	NM_002691.4(POLD1):c.3252G>A (p.Lys1084=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	POLD1-related disorder	GLikely benign
Select item 3048397	NM_002691.4(POLD1):c.1776-24C>T	POLD1	Single nucleotide variant (synonymous variant +1 more)	POLD1-related disorder	GLikely benign
Select item 3035891	NM_002691.4(POLD1):c.1776-84_1776-83dup	POLD1	Duplication (intron variant)	POLD1-related disorder	GLikely benign
Select item 3025617	NM_002691.4(POLD1):c.3102T>G (p.Ser1034=)	POLD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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)	Hereditary cancer-predisposing syndrome +1 more	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

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