ClinVar for Gene (Select 4437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379266	NM_002439.5(MSH3):c.3033T>A (p.Tyr1011Ter)	MSH3 (Y1011*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 3379259	NM_002439.5(MSH3):c.465dup (p.Leu156fs)	MSH3 (L156fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 3379254	NM_002439.5(MSH3):c.313dup (p.Gln105fs)	MSH3 (Q105fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 3375794	NM_002439.5(MSH3):c.178_179insTCGCAGCGC (p.Ala60delinsValAlaAlaPro)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3375540	NM_002439.5(MSH3):c.1748C>T (p.Pro583Leu)	MSH3 (P583L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373314	NM_002439.5(MSH3):c.1605G>A (p.Met535Ile)	MSH3 (M535I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368562	NM_002439.5(MSH3):c.166_167insAGGCCGCAGCGGCCGCAG (p.Ala55_Ala56insGluAlaAlaAlaAlaAla)	DHFR, MSH3	Insertion (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3368104	NM_002439.5(MSH3):c.3141A>C (p.Glu1047Asp)	MSH3 (E1047D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367896	NM_002439.5(MSH3):c.190C>T (p.Pro64Ser)	DHFR, MSH3 (P64S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3363694	NM_002439.5(MSH3):c.1821G>A (p.Val607=)	MSH3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3359397	NM_002439.5(MSH3):c.1418C>A (p.Thr473Lys)	MSH3 (T473K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346933	NM_002439.5(MSH3):c.1751T>A (p.Leu584His)	MSH3 (L584H)	Single nucleotide variant (missense variant)	MSH3-related disorder	GUncertain significance
Select item 3346752	NM_002439.5(MSH3):c.*7G>A	MSH3	Single nucleotide variant (3 prime UTR variant)	MSH3-related disorder	GLikely benign
Select item 3345439	NM_002439.5(MSH3):c.865A>G (p.Arg289Gly)	MSH3 (R289G)	Single nucleotide variant (missense variant)	MSH3-related disorder	GUncertain significance
Select item 3296319	NM_002439.5(MSH3):c.2276C>G (p.Ser759Cys)	MSH3 (S759C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296318	NM_002439.5(MSH3):c.1781T>G (p.Leu594Arg)	MSH3 (L594R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296315	NM_002439.5(MSH3):c.3102C>T (p.Val1034=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296314	NM_002439.5(MSH3):c.1371G>A (p.Arg457=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296313	NM_002439.5(MSH3):c.962A>G (p.Asn321Ser)	LOC126807437, MSH3 (N321S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296312	NM_002439.5(MSH3):c.66G>T (p.Ala22=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296310	NM_002439.5(MSH3):c.877C>A (p.His293Asn)	MSH3 (H293N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296309	NM_002439.5(MSH3):c.647C>G (p.Thr216Ser)	MSH3 (T216S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296308	NM_002439.5(MSH3):c.3126_3127insATGAAATAT (p.Asp1042_Pro1043insMetLysTyr)	MSH3	Microsatellite (inframe_insertion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296307	NM_002439.5(MSH3):c.3202T>A (p.Tyr1068Asn)	MSH3 (Y1068N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296306	NM_002439.5(MSH3):c.207C>G (p.Pro69=)	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296305	NM_002439.5(MSH3):c.1742C>T (p.Thr581Ile)	MSH3 (T581I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296304	NM_002439.5(MSH3):c.3390A>G (p.Glu1130=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296303	NM_002439.5(MSH3):c.3173A>G (p.Gln1058Arg)	MSH3 (Q1058R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296301	NM_002439.5(MSH3):c.2304G>T (p.Trp768Cys)	MSH3 (W768C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296300	NM_002439.5(MSH3):c.3322G>T (p.Ala1108Ser)	MSH3 (A1108S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296299	NM_002439.5(MSH3):c.2664A>C (p.Ser888=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296298	NM_002439.5(MSH3):c.3113A>G (p.Glu1038Gly)	MSH3 (E1038G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296297	NM_002439.5(MSH3):c.2976T>G (p.Ala992=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296295	NM_002439.5(MSH3):c.625A>C (p.Ser209Arg)	MSH3 (S209R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296294	NM_002439.5(MSH3):c.211T>C (p.Phe71Leu)	DHFR, MSH3 (F71L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296293	NM_002439.5(MSH3):c.3233T>G (p.Val1078Gly)	MSH3 (V1078G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296292	NM_002439.5(MSH3):c.2417A>T (p.Glu806Val)	MSH3 (E806V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296291	NM_002439.5(MSH3):c.253A>G (p.Arg85Gly)	MSH3 (R85G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296290	NM_002439.5(MSH3):c.1125G>C (p.Lys375Asn)	MSH3 (K375N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296289	NM_002439.5(MSH3):c.1656T>C (p.Thr552=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296288	NM_002439.5(MSH3):c.1766A>T (p.Glu589Val)	MSH3 (E589V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296287	NM_002439.5(MSH3):c.1636G>T (p.Glu546Ter)	MSH3 (E546*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3296285	NM_002439.5(MSH3):c.998T>G (p.Leu333Arg)	LOC126807437, MSH3 (L333R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296284	NM_002439.5(MSH3):c.1803C>G (p.Leu601=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296283	NM_002439.5(MSH3):c.2008A>T (p.Thr670Ser)	MSH3 (T670S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296282	NM_002439.5(MSH3):c.460G>A (p.Glu154Lys)	MSH3 (E154K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296281	NM_002439.5(MSH3):c.2518delinsCAAGGGAGAAATCTCC (p.Val840delinsGlnGlyArgAsnLeuLeu)	MSH3	Indel (inframe_indel)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296280	NM_002439.5(MSH3):c.1665A>G (p.Lys555=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296279	NM_002439.5(MSH3):c.698A>G (p.Glu233Gly)	MSH3 (E233G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296278	NM_002439.5(MSH3):c.591T>A (p.Leu197=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296277	NM_002439.5(MSH3):c.2408G>A (p.Cys803Tyr)	MSH3 (C803Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296275	NM_002439.5(MSH3):c.3171C>G (p.Tyr1057Ter)	MSH3 (Y1057*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3296274	NM_002439.5(MSH3):c.2972A>T (p.Tyr991Phe)	MSH3 (Y991F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296273	NM_002439.5(MSH3):c.1710A>T (p.Ser570=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296272	NM_002439.5(MSH3):c.1392A>C (p.Glu464Asp)	MSH3 (E464D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296271	NM_002439.5(MSH3):c.1279C>T (p.Leu427=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296270	NM_002439.5(MSH3):c.1985A>G (p.His662Arg)	MSH3 (H662R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296269	NM_002439.5(MSH3):c.2911T>A (p.Leu971Met)	MSH3 (L971M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296268	NM_002439.5(MSH3):c.2006G>C (p.Arg669Pro)	MSH3 (R669P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296267	NM_002439.5(MSH3):c.1286C>G (p.Pro429Arg)	MSH3 (P429R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296266	NM_002439.5(MSH3):c.3323C>T (p.Ala1108Val)	MSH3 (A1108V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296265	NM_002439.5(MSH3):c.973C>T (p.Leu325Phe)	LOC126807437, MSH3 (L325F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296264	NM_002439.5(MSH3):c.1926C>G (p.Val642=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296263	NM_002439.5(MSH3):c.1041A>G (p.Leu347=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296261	NM_002439.5(MSH3):c.3276G>C (p.Glu1092Asp)	MSH3 (E1092D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296260	NM_002439.5(MSH3):c.1341-1G>A	MSH3	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3296259	NM_002439.5(MSH3):c.2461T>C (p.Leu821=)	MSH3	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3296258	NM_002439.5(MSH3):c.1844T>C (p.Leu615Pro)	MSH3 (L615P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296257	NM_002439.5(MSH3):c.1436A>C (p.Asp479Ala)	MSH3 (D479A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296256	NM_002439.5(MSH3):c.579+3A>T	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296255	NM_002439.5(MSH3):c.2435+2dup	MSH3	Duplication (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296254	NM_002439.5(MSH3):c.2485G>C (p.Ala829Pro)	MSH3 (A829P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296253	NM_002439.5(MSH3):c.2282T>C (p.Val761Ala)	MSH3 (V761A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296252	NM_002439.5(MSH3):c.622A>G (p.Thr208Ala)	MSH3 (T208A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3296248	NM_002439.5(MSH3):c.242C>T (p.Thr81Ile)	MSH3 (T81I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256433	NM_002439.5(MSH3):c.3302+28A>G	MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256432	NM_002439.5(MSH3):c.2319-42A>T	MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256431	NM_002439.5(MSH3):c.1881C>G (p.Ser627Arg)	MSH3 (S627R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256430	NM_002439.5(MSH3):c.1340+40A>C	MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256428	NM_002439.5(MSH3):c.910-28A>C	LOC126807437, MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256427	NM_002439.5(MSH3):c.237+30A>T	MSH3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256188	NM_000791.4(DHFR):c.-418_-392del	DHFR, MSH3	Deletion (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3256187	NM_000791.4(DHFR):c.-204T>A	DHFR, MSH3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3254366	NM_002439.5(MSH3):c.2776G>T (p.Glu926Ter)	MSH3 (E926*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 3254365	NM_002439.5(MSH3):c.1896+1del	MSH3	Deletion (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 3254266	NM_002439.5(MSH3):c.2084+1G>T	MSH3	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 3251021	NM_002439.5(MSH3):c.1650T>C (p.Asn550=)	MSH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246501	NC_000005.9:g.(?_79961052)_(79962797_?)del	MSH3	Deletion	not provided	GLikely pathogenic
Select item 3246500	NC_000005.9:g.(?_80150123)_(80151028_?)del	MSH3	Deletion	not provided	GLikely pathogenic
Select item 3246499	NC_000005.9:g.(?_80149853)_(80150005_?)del	MSH3	Deletion	not provided	GLikely pathogenic
Select item 3246498	NC_000005.9:g.(?_79970792)_(79974922_?)dup	MSH3	Duplication	not provided	GLikely pathogenic
Select item 3246497	NC_000005.9:g.(?_79960952)_(80171681_?)dup	MSH3	Duplication	not provided	GUncertain significance
Select item 3246495	NC_000005.9:g.(?_80149929)_(80171681_?)dup	MSH3	Duplication	not provided	GUncertain significance
Select item 3246494	NC_000005.9:g.(?_80063742)_(80071587_?)dup	MSH3	Duplication	not provided	GLikely pathogenic
Select item 3246493	NC_000005.9:g.(?_80037273)_(80171681_?)dup	MSH3	Duplication	not provided	GUncertain significance
Select item 3246492	NC_000005.9:g.(?_80021252)_(80038537_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246491	NC_000005.9:g.(?_79974726)_(80024804_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246490	NC_000005.9:g.(?_80071493)_(80074675_?)del	MSH3	Deletion	not provided	GPathogenic
Select item 3246489	NC_000005.9:g.(?_80063732)_(80088683_?)del	MSH3	Deletion	not provided	GUncertain significance
Select item 3246488	NC_000005.9:g.(?_80040315)_(80074665_?)del	MSH3	Deletion	not provided	GPathogenic

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