ClinVar for Gene (Select 4436) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247503	NC_000002.11:g.(?_47600582)_(47643588_?)dup	EPCAM, MSH2	Duplication	not provided	GUncertain significance
Select item 3247500	NC_000002.11:g.(?_47602363)_(47710120_?)del	EPCAM, MSH2	Deletion	not provided	GPathogenic
Select item 3247495	NC_000002.11:g.(?_47596288)_(47643588_?)del	EPCAM, MSH2	Deletion	not provided	GPathogenic
Select item 3247119	NC_000002.11:g.(?_47709916)_(47710092_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247118	NC_000002.11:g.(?_47707880)_(47715327_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247117	NC_000002.11:g.(?_47540053)_(47656931_?)del	BCYRN1, EPCAM +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247114	NC_000002.11:g.(?_47636708)_(47637359_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247113	NC_000002.11:g.(?_47702661)_(47703586_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247112	NC_000002.11:g.(?_47630436)_(47634311_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247111	NC_000002.11:g.(?_47628887)_(47630425_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247110	NC_000002.11:g.(?_47669476)_(47690303_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247109	NC_000002.11:g.(?_47641398)_(47657100_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247108	NC_000002.11:g.(?_47639543)_(47643578_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247107	NC_000002.11:g.(?_47635062)_(47643578_?)dup	MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 3247106	NC_000002.11:g.(?_47596645)_(47708020_?)dup	EPCAM, MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247105	NC_000002.11:g.(?_47596645)_(47630551_?)dup	EPCAM, MSH2	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 3247103	NC_000002.11:g.(?_47690150)_(47710088_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247102	NC_000002.11:g.(?_47656861)_(47672816_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247101	NC_000002.11:g.(?_47637213)_(47672816_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247100	NC_000002.11:g.(?_47637213)_(47643588_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247099	NC_000002.11:g.(?_47637223)_(47693957_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247098	NC_000002.11:g.(?_47635062)_(47657090_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247097	NC_000002.11:g.(?_47635062)_(47637521_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247096	NC_000002.11:g.(?_47698094)_(47702419_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247095	NC_000002.11:g.(?_47630249)_(47643588_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247094	NC_000002.11:g.(?_47630150)_(47639709_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247092	NC_000002.11:g.(?_47630249)_(47635704_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247091	NC_000002.11:g.(?_47669476)_(47672816_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247090	NC_000002.11:g.(?_47653029)_(47657100_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247089	NC_000002.11:g.(?_47635062)_(47635704_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247088	NC_000002.11:g.(?_47596288)_(47672816_?)del	EPCAM, MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3247087	NC_000002.11:g.(?_47630249)_(47710088_?)del	MSH2	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 3242335	GRCh37/hg19 2p21(chr2:47647487-47663434)x1	MSH2	Copy number loss	not provided	GLikely pathogenic
Select item 3239763	NM_000251.3(MSH2):c.1474A>C (p.Met492Leu)	MSH2 (M193L +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 3239761	NM_000251.3(MSH2):c.1944T>G (p.Ile648Met)	MSH2 (I196M +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239760	NM_000251.3(MSH2):c.870A>C (p.Glu290Asp)	MSH2 (E150D +4 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GUncertain significance
Select item 3239759	NM_000251.3(MSH2):c.1256A>G (p.Gln419Arg)	MSH2 (Q120R +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239758	NM_000251.3(MSH2):c.1282C>T (p.His428Tyr)	MSH2 (H129Y +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239756	NM_000251.3(MSH2):c.449_454delinsCGGACATTT (p.Val150_Met152delinsAlaAspIleLeu)	MSH2	Indel (inframe_indel +2 more)	Lynch syndrome 1	GUncertain significance
Select item 3239755	NM_000251.3(MSH2):c.1523G>A (p.Gly508Asp)	MSH2 (G209D +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 3239754	NM_000251.3(MSH2):c.690_693delinsCT (p.Asp231fs)	MSH2 (D165fs +3 more)	Indel (frameshift variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 3239421	NM_000251.3(MSH2):c.1239A>G (p.Gln413=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3238735	GRCh38/hg38 2p21(chr2:47416275-47416449)x1	MSH2	Copy number loss	Lynch syndrome 1	GPathogenic
Select item 3236807	NM_000251.2(MSH2):c.-47_-38delTGTGGGGTCG	MSH2	Deletion (5 prime UTR variant)	Lynch syndrome 1	GUncertain significance
Select item 3236727	NM_000251.3(MSH2):c.298G>C (p.Val100Leu)	MSH2 (V100L +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230861	NM_000251.3(MSH2):c.950T>C (p.Val317Ala)	MSH2 (V177A +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230860	NM_000251.3(MSH2):c.922A>G (p.Arg308Gly)	MSH2 (R168G +5 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230858	NM_000251.3(MSH2):c.863A>C (p.Gln288Pro)	MSH2 (Q148P +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230856	NM_000251.3(MSH2):c.770T>C (p.Val257Ala)	MSH2 (V117A +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230855	NM_000251.3(MSH2):c.731T>G (p.Leu244Trp)	MSH2 (L104W +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230854	NM_000251.3(MSH2):c.717G>T (p.Gln239His)	MSH2 (Q173H +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230853	NM_000251.3(MSH2):c.709A>T (p.Ile237Phe)	MSH2 (I171F +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230851	NM_000251.3(MSH2):c.63CTT[1] (p.Phe23del)	MSH2 (F23del)	Microsatellite (inframe_deletion +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230850	NM_000251.3(MSH2):c.615G>A (p.Glu205=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230849	NM_000251.3(MSH2):c.581T>A (p.Ile194Asn)	MSH2 (I128N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230848	NM_000251.3(MSH2):c.52G>A (p.Gly18Ser)	MSH2 (G18S)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230846	NM_000251.3(MSH2):c.375T>C (p.Pro125=)	MSH2	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230845	NM_000251.3(MSH2):c.368C>T (p.Ala123Val)	MSH2 (A103V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230842	NM_000251.3(MSH2):c.2707A>G (p.Asn903Asp)	MSH2 (N451D +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3230841	NM_000251.3(MSH2):c.2695A>C (p.Met899Leu)	MSH2 (M447L +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230840	NM_000251.3(MSH2):c.2635C>G (p.Gln879Glu)	MSH2 (Q427E +4 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230839	NM_000251.3(MSH2):c.2579C>G (p.Ser860Trp)	MSH2 (S408W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230838	NM_000251.3(MSH2):c.2569A>C (p.Ile857Leu)	MSH2 (I405L +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230837	NM_000251.3(MSH2):c.2540A>C (p.Lys847Thr)	MSH2 (K395T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230835	NM_000251.3(MSH2):c.2359C>T (p.Leu787Phe)	MSH2 (L335F +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230834	NM_000251.3(MSH2):c.2320del (p.Ile774fs)	MSH2 (I322fs +8 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230832	NM_000251.3(MSH2):c.220A>T (p.Asn74Tyr)	MSH2 (N74Y +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230831	NM_000251.3(MSH2):c.2087C>A (p.Pro696Gln)	MSH2 (P244Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3230830	NM_000251.3(MSH2):c.2078_2080del (p.Cys693del)	MSH2 (C241del +8 more)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3230829	NM_000251.3(MSH2):c.2068C>G (p.Gln690Glu)	MSH2 (Q690E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230827	NM_000251.3(MSH2):c.2025A>G (p.Lys675=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230825	NM_000251.3(MSH2):c.1994A>G (p.His665Arg)	MSH2 (H213R +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230824	NM_000251.3(MSH2):c.197A>G (p.Tyr66Cys)	MSH2 (Y66C)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230823	NM_000251.3(MSH2):c.1966T>A (p.Tyr656Asn)	MSH2 (Y204N +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GBenign
Select item 3230822	NM_000251.3(MSH2):c.1959T>C (p.Asn653=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230819	NM_000251.3(MSH2):c.1762T>C (p.Tyr588His)	MSH2 (L555P +9 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230818	NM_000251.3(MSH2):c.1760-15_1803dup	MSH2	Duplication (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230817	NM_000251.3(MSH2):c.167A>G (p.Glu56Gly)	MSH2 (E56G)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230815	NM_000251.3(MSH2):c.164G>T (p.Arg55Leu)	MSH2 (R55L)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230814	NM_000251.3(MSH2):c.1547G>C (p.Ser516Thr)	MSH2 (S217T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230812	NM_000251.3(MSH2):c.1414C>A (p.Pro472Thr)	MSH2 (P173T +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230811	NM_000251.3(MSH2):c.1387-701A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230810	NM_000251.3(MSH2):c.1288A>C (p.Lys430Gln)	MSH2 (K131Q +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230809	NM_000251.3(MSH2):c.1228G>A (p.Gly410Ser)	MSH2 (G111S +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230808	NM_000251.3(MSH2):c.1221C>T (p.Leu407=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230806	NM_000251.3(MSH2):c.1209T>G (p.Asp403Glu)	MSH2 (D104E +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230805	NM_000251.3(MSH2):c.10C>G (p.Gln4Glu)	MSH2 (Q4E)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230803	NM_000251.3(MSH2):c.1077-3C>G	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230802	NM_000251.3(MSH2):c.1059G>C (p.Lys353Asn)	MSH2 (K213N +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230801	NM_000251.3(MSH2):c.1039A>C (p.Lys347Gln)	MSH2 (K207Q +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230800	NM_000251.3(MSH2):c.1019G>A (p.Arg340Lys)	MSH2 (R200K +6 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3211180	NM_000251.3(MSH2):c.943-15T>G	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3211178	NM_000251.3(MSH2):c.78G>A (p.Met26Ile)	MSH2 (M26I)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3211150	NM_000251.3(MSH2):c.1727C>T (p.Ala576Val)	MSH2 (A510V +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148724	NM_000251.3(MSH2):c.201_211+3del	MSH2	Deletion (splice donor variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 3148691	NM_000251.3(MSH2):c.1989_1994delinsAAAC (p.Met663fs)	MSH2 (M211fs +8 more)	Indel (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 3113363	NM_022055.2(KCNK12):c.7T>A (p.Ser3Thr)	KCNK12, MSH2 (S3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113362	NM_022055.2(KCNK12):c.612C>G (p.Asp204Glu)	KCNK12, MSH2 (D204E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113361	NM_022055.2(KCNK12):c.296C>T (p.Ala99Val)	KCNK12, MSH2 (A99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113360	NM_022055.2(KCNK12):c.1202G>A (p.Cys401Tyr)	KCNK12, LOC129933697 +1 more (C401Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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