ClinVar for MedGen (Select 934686) - 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 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 3242245	NM_002439.5(MSH3):c.793-10dup	MSH3	Duplication (intron variant)	Familial adenomatous polyposis 4	GUncertain significance
Select item 3148728	NM_002439.5(MSH3):c.993_994insTC (p.Ala332fs)	MSH3, LOC126807437 (A332fs)	Insertion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 3148711	NM_002439.5(MSH3):c.1527C>A (p.Tyr509Ter)	MSH3 (Y509*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 3148687	NM_002439.5(MSH3):c.2105_2107delinsAA (p.Leu702_Phe703delinsTer)	MSH3	Indel (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 3148659	NM_002439.5(MSH3):c.1569-2A>G	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 3148651	NM_002439.5(MSH3):c.909+1dup	MSH3	Duplication (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2877236	NM_002439.5(MSH3):c.1696C>T (p.His566Tyr)	MSH3 (H566Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2676787	NM_002439.5(MSH3):c.1309G>T (p.Glu437Ter)	MSH3 (E437*)	Single nucleotide variant (nonsense)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 2673975	NM_002439.5(MSH3):c.-34_-10dup	DHFR, MSH3	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 4	GBenign
Select item 2673937	NM_002439.5(MSH3):c.3292_3295del (p.Asn1098fs)	MSH3 (N1098fs)	Microsatellite (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2673935	NM_002439.5(MSH3):c.1308_1309insAA (p.Glu437fs)	MSH3 (E437fs)	Insertion (frameshift variant)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 2673932	NM_002439.5(MSH3):c.-30_-18dup	DHFR, MSH3	Duplication (5 prime UTR variant +1 more)	Familial adenomatous polyposis 4	GBenign
Select item 2673573	NM_002439.5(MSH3):c.1538del (p.Phe513fs)	MSH3 (F513fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673572	NM_002439.5(MSH3):c.3160del (p.Thr1054fs)	MSH3 (T1054fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673571	NM_002439.5(MSH3):c.61C>T (p.Gln21Ter)	DHFR, MSH3 (Q21*)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673570	NM_002439.5(MSH3):c.1254dup (p.Ser419fs)	MSH3 (S419fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673569	NM_002439.5(MSH3):c.870dup (p.Phe291fs)	MSH3 (F291fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673568	NM_002439.5(MSH3):c.1869_1873delinsCATTTA (p.Arg623fs)	MSH3 (R623fs)	Indel (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673567	NM_002439.5(MSH3):c.1709C>G (p.Ser570Ter)	MSH3 (S570*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673566	NM_002439.5(MSH3):c.2140_2141dup (p.Lys716fs)	MSH3 (K716fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673565	NM_002439.5(MSH3):c.2367_2368del (p.Tyr789_Arg790delinsTer)	MSH3	Deletion (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673564	NM_002439.5(MSH3):c.708_711del (p.Gln235_Tyr236insTer)	MSH3	Deletion (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673563	NM_002439.5(MSH3):c.1932_1941del (p.Thr644_Leu645insTer)	MSH3	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673562	NM_002439.5(MSH3):c.3215del (p.Val1072fs)	MSH3 (V1072fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673561	NM_002439.5(MSH3):c.2110A>T (p.Lys704Ter)	MSH3 (K704*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673560	NM_002439.5(MSH3):c.1536del (p.Glu512fs)	MSH3 (E512fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2673559	NM_002439.5(MSH3):c.2055_2058del (p.His684_Tyr685insTer)	MSH3	Deletion (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673557	NM_002439.5(MSH3):c.1305_1308del (p.Thr436fs)	MSH3 (T436fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673556	NM_002439.5(MSH3):c.85del (p.Gln29fs)	DHFR, MSH3 (Q29fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673555	NM_002439.5(MSH3):c.1890del (p.His630fs)	MSH3 (H630fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673554	NM_002439.5(MSH3):c.2101G>T (p.Glu701Ter)	MSH3 (E701*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673553	NM_002439.5(MSH3):c.3085del (p.His1029fs)	MSH3 (H1029fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673551	NM_002439.5(MSH3):c.2018T>G (p.Leu673Ter)	MSH3 (L673*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673550	NM_002439.5(MSH3):c.309dup (p.Val104fs)	MSH3 (V104fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673549	NM_002439.5(MSH3):c.3039_3042del (p.Cys1015fs)	MSH3 (C1015fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673548	NM_002439.5(MSH3):c.751G>T (p.Glu251Ter)	MSH3 (E251*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673547	NM_002439.5(MSH3):c.495del (p.Lys165fs)	MSH3 (K165fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673546	NM_002439.5(MSH3):c.1014dup (p.Leu339fs)	LOC126807437, MSH3 (L339fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673545	NM_002439.5(MSH3):c.2785_2786del (p.Ile929fs)	MSH3 (I929fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673544	NM_002439.5(MSH3):c.424dup (p.Cys142fs)	MSH3 (C142fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673543	NM_002439.5(MSH3):c.1636dup (p.Glu546fs)	MSH3 (E546fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673542	NM_002439.5(MSH3):c.2293_2294insT (p.Pro765fs)	MSH3 (P765fs)	Insertion (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673541	NM_002439.5(MSH3):c.2426_2427del (p.Asp809fs)	MSH3 (D809fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673540	NM_002439.5(MSH3):c.1473dup (p.Ile492fs)	MSH3 (I492fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673539	NM_002439.5(MSH3):c.854dup (p.Pro286fs)	MSH3 (P286fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673538	NM_002439.5(MSH3):c.2429delinsAG (p.Phe810Ter)	MSH3 (F810*)	Indel (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673537	NM_002439.5(MSH3):c.1439del (p.Thr480fs)	MSH3 (T480fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673536	NM_002439.5(MSH3):c.2962del (p.Ala988fs)	MSH3 (A988fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673535	NM_002439.5(MSH3):c.337delinsTT (p.Leu113fs)	MSH3 (L113fs)	Indel (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673534	NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)	MSH3 (Q148*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673533	NM_002439.5(MSH3):c.817_820del (p.Tyr273fs)	MSH3 (Y273fs)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673532	NM_002439.5(MSH3):c.930_931del (p.Glu311fs)	LOC126807437, MSH3 (E311fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673531	NM_002439.5(MSH3):c.90dup (p.Thr31fs)	DHFR, MSH3 (T31fs)	Duplication (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673529	NM_002439.5(MSH3):c.2554_2561del (p.Gln852fs)	MSH3 (Q852fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673528	NM_002439.5(MSH3):c.1190del (p.Thr397fs)	MSH3 (T397fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673527	NM_002439.5(MSH3):c.1851del (p.Lys617fs)	MSH3 (K617fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673526	NM_002439.5(MSH3):c.3255_3256dup (p.Ala1086fs)	MSH3 (A1086fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GConflicting classifications of pathogenicity
Select item 2673525	NM_002439.5(MSH3):c.3133_3137delinsACA (p.Ala1045fs)	MSH3 (A1045fs)	Indel (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673524	NM_002439.5(MSH3):c.2575del (p.Val858_Ile859insTer)	MSH3	Deletion (nonsense)	Familial adenomatous polyposis 4 +2 more	GPathogenic
Select item 2673522	NM_002439.5(MSH3):c.476_477del (p.Arg159fs)	MSH3 (R159fs)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673521	NM_002439.5(MSH3):c.557C>A (p.Ser186Ter)	MSH3 (S186*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673520	NM_002439.5(MSH3):c.2830_2831dup (p.Asn944fs)	MSH3 (N944fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673519	NM_002439.5(MSH3):c.1645C>T (p.Gln549Ter)	MSH3 (Q549*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673518	NM_002439.5(MSH3):c.2123del (p.Asp708fs)	MSH3 (D708fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673517	NM_002439.5(MSH3):c.3059dup (p.Asn1020fs)	MSH3 (N1020fs)	Duplication (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673516	NM_002439.5(MSH3):c.1384del (p.Tyr462fs)	MSH3 (Y462fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673515	NM_002439.5(MSH3):c.1546G>T (p.Glu516Ter)	MSH3 (E516*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673513	NM_002439.5(MSH3):c.1348del (p.Asp450fs)	MSH3 (D450fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673512	NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)	MSH3 (Q1058*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +2 more	GPathogenic/Likely pathogenic
Select item 2673511	NM_002439.5(MSH3):c.1510_1513del (p.Ala504fs)	MSH3 (A504fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673510	NM_002439.5(MSH3):c.438_439delinsG (p.Pro147fs)	MSH3 (P147fs)	Indel (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673509	NM_002439.5(MSH3):c.2141del (p.Lys714fs)	MSH3 (K714fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673508	NM_002439.5(MSH3):c.2243C>G (p.Ser748Ter)	MSH3 (S748*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673507	NM_002439.5(MSH3):c.2499C>A (p.Cys833Ter)	MSH3 (C833*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673506	NM_002439.5(MSH3):c.36del (p.Ala13fs)	DHFR, MSH3 (A13fs)	Deletion (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673505	NM_002439.5(MSH3):c.2673_2680delinsT (p.Met892fs)	MSH3 (M892fs)	Indel (frameshift variant)	Endometrial carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 2673504	NM_002439.5(MSH3):c.1527C>G (p.Tyr509Ter)	MSH3 (Y509*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673503	NM_002439.5(MSH3):c.2285del (p.Ser762fs)	MSH3 (S762fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673502	NM_002439.5(MSH3):c.1303C>T (p.Gln435Ter)	MSH3 (Q435*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673501	NM_002439.5(MSH3):c.971C>G (p.Ser324Ter)	LOC126807437, MSH3 (S324*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673500	NM_002439.5(MSH3):c.2550_2554del (p.Val851fs)	MSH3 (V851fs)	Deletion (frameshift variant)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673499	NM_002439.5(MSH3):c.781G>T (p.Glu261Ter)	MSH3 (E261*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673498	NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)	MSH3 (Q731*)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 4 +1 more	GPathogenic
Select item 2673497	NM_002439.5(MSH3):c.85C>T (p.Gln29Ter)	DHFR, MSH3 (Q29*)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 4	GPathogenic
Select item 2673495	NM_002439.5(MSH3):c.359-1G>C	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673494	NM_002439.5(MSH3):c.2994_3000+2del	MSH3	Deletion (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673493	NM_002439.5(MSH3):c.1653+2_1653+3delinsGT	MSH3	Indel (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673492	NM_002439.5(MSH3):c.1173+1_1173+5del	MSH3	Deletion (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673491	NM_002439.5(MSH3):c.358+1G>T	MSH3	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673490	NM_002439.5(MSH3):c.2253_2253+1insAT	MSH3	Insertion (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673489	NM_002439.5(MSH3):c.579+1G>T	MSH3	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673487	NM_002439.5(MSH3):c.3302+1G>A	MSH3	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 4	GLikely pathogenic
Select item 2673486	NM_002439.5(MSH3):c.2254-2A>G	MSH3	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 4 +2 more	GLikely pathogenic
Select item 2673485	NM_002439.5(MSH3):c.2543+2T>C	MSH3	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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