ClinVar for MedGen (Select 231157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584865	NM_000251.3(MSH2):c.2073del (p.Ile691fs)	MSH2 (I551fs +8 more)	Deletion (frameshift variant +1 more)	Muir-Torré syndrome	GLikely pathogenic
Select item 2418876	NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)	MSH2 (S134* +8 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1 +2 more	GPathogenic
Select item 1685949	NM_000249.4(MLH1):c.1972del (p.Leu658fs)	MLH1 (L300fs +6 more)	Deletion (frameshift variant +1 more)	Muir-Torré syndrome	GPathogenic
Select item 1490001	NM_000251.3(MSH2):c.943G>T (p.Gly315Cys)	MSH2 (G249C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 1404368	NM_000249.4(MLH1):c.816del (p.Arg273fs)	MLH1 (R240fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1339337	NM_000251.3(MSH2):c.1907del (p.Ala636fs)	MSH2 (A570fs +1 more)	Deletion (frameshift variant)	Muir-Torré syndrome	GPathogenic
Select item 1333961	NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)	MSH2 (C807* +1 more)	Single nucleotide variant (nonsense)	Muir-Torré syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1329486	NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)	MLH1 (E53*)	Single nucleotide variant (nonsense +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic
Select item 1043401	NM_000249.4(MLH1):c.553G>A (p.Val185Ile)	MLH1 (V152I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 1036341	NM_000249.4(MLH1):c.185A>G (p.Gln62Arg)	MLH1 (Q62R)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 964254	NM_000251.3(MSH2):c.473A>G (p.Gln158Arg)	MSH2 (Q158R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 941211	NM_000249.4(MLH1):c.589-1G>A	MLH1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 856670	NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)	MSH2 (Y497C +1 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 820971	NM_000249.4(MLH1):c.2254G>C (p.Val752Leu)	MLH1 (V411L +8 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 820600	NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)	MSH2 (A623T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 642710	NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)	MLH1 (Y332* +7 more)	Single nucleotide variant (nonsense +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 642117	NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)	MLH1 (C77G)	Single nucleotide variant (missense variant +2 more)	Mismatch repair cancer syndrome 1 +4 more	GUncertain significance
Select item 639304	NM_000249.4(MLH1):c.842C>G (p.Ala281Gly)	MLH1 (A248G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 625694	GRCh37/hg19 3p22.2(chr3:37089011-37116538)	LRRFIP2, MLH1	Copy number loss	Muir-Torré syndrome	GPathogenic
Select item 618211	NM_000249.4(MLH1):c.726G>A (p.Met242Ile)	MLH1 (M242I +3 more)	Single nucleotide variant (missense variant +3 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GUncertain significance
Select item 580133	NM_000249.4(MLH1):c.885-1G>A	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 576789	NM_000251.3(MSH2):c.1754C>T (p.Ser585Phe)	MSH2 (S585F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 525673	NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)	MLH1 (G351R +4 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 491780	NM_000251.3(MSH2):c.1661+11C>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1 +5 more	GLikely benign
Select item 485836	NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)	MSH2 (M485T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 483732	NM_000251.3(MSH2):c.464T>C (p.Val155Ala)	MSH2 (V155A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 483664	NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)	MSH2 (S554N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 483545	NM_000249.4(MLH1):c.1896+5G>A	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 480911	NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)	MSH2 (N331S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 479684	NM_000249.4(MLH1):c.53G>A (p.Arg18His)	MLH1 (R18H)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GUncertain significance
Select item 455532	NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)	MSH2 (R631K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 455484	NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)	MSH2 (E452K +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 455457	NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)	MLH1 (A282T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 455448	NM_000249.4(MLH1):c.670G>A (p.Val224Ile)	MLH1 (V224I +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GUncertain significance
Select item 421030	NM_000249.4(MLH1):c.-11C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 420921	NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)	MLH1 (A31T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 418300	NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)	MLH1 (K274R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 383159	NM_000249.4(MLH1):c.1990-17G>C	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GLikely benign
Select item 237335	NM_000249.4(MLH1):c.226G>A (p.Val76Ile)	MLH1 (V76I)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GUncertain significance
Select item 234193	NM_000251.3(MSH2):c.272A>T (p.Asp91Val)	MSH2 (D91V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 233361	NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)	MLH1 (T81S)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 233001	NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)	MSH2 (S494P +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 230802	NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)	MLH1 (R10Q)	Single nucleotide variant (missense variant +1 more)	Muir-Torré syndrome +3 more	GUncertain significance
Select item 230023	NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)	MSH2 (A609S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 229770	NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)	MSH2 (T754S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 220367	NM_000249.4(MLH1):c.650G>A (p.Arg217His)	MLH1 (R217H +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 220186	NM_000249.4(MLH1):c.438A>G (p.Gln146=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 220157	NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)	MSH2 (Q170E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 219961	NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)	MLH1 (S592N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 219728	NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)	MLH1 (G373E +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 219605	NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)	MSH2 (Q601R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 216352	NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)	MSH2 (T754A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 216341	NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)	MSH2 (I418M +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 187310	NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)	MLH1 (M524I +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 187103	NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	MSH2 (L135V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 186849	NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)	MSH2 (G126S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GUncertain significance
Select item 186843	NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)	MLH1 (G373R +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185668	NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)	MSH2 (G25C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 185186	NM_000249.4(MLH1):c.536TTG[1] (p.Val180del)	MLH1 (V180del +2 more)	Microsatellite (inframe_deletion +2 more)	Muir-Torré syndrome +1 more	GConflicting classifications of pathogenicity
Select item 184792	NM_000251.3(MSH2):c.-181G>A	MSH2	Single nucleotide variant	Lynch syndrome 1 +6 more	GUncertain significance
Select item 184683	NM_000249.4(MLH1):c.454G>A (p.Val152Met)	MLH1 (V152M +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +4 more	GUncertain significance
Select item 182583	NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	MSH2 (A189G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 182576	NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	MSH2 (L128R +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 182524	NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)	MLH1 (D415N +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 182518	NM_000249.4(MLH1):c.1039-3C>G	MLH1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 140759	NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	MLH1 (R385H +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 135854	NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)	MSH2 (E56K)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 134846	NM_000251.3(MSH2):c.220A>C (p.Asn74His)	MSH2 (N74H +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 127648	NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)	MSH2 (G204R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 127629	NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)	MSH2 (Q413P +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 127619	NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)	MLH1 (S577L +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 127615	NM_000249.4(MLH1):c.1558+5G>A	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 127612	NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)	MLH1 (E448D +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 91271	NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)	MSH2 (N331D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 91267	NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	MSH2 (T33P)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 91235	NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	MSH2 (E290* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91115	NM_000251.3(MSH2):c.505A>G (p.Ile169Val)	MSH2 (I169V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91105	NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	MSH2 (G162R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 91090	NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	MSH2 (Q64fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
Select item 90990	NM_000251.3(MSH2):c.2516A>G (p.His839Arg)	MSH2 (H839R +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90855	NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)	MSH2 (P670L +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 90832	NM_000251.3(MSH2):c.1A>C (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 90812	NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)	MSH2 (Q629R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90804	NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	MSH2 (R621* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90750	NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)	MSH2 (T564A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90744	NM_000251.3(MSH2):c.1680T>C (p.Asn560=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 90720	NM_000251.3(MSH2):c.1661+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 90592	NM_000251.3(MSH2):c.1276+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90583	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)	MSH2 (Q419K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 90569	NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)	MSH2 (R406Q +1 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 90554	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2 (R383* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90519	NM_000251.3(MSH2):c.1076+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GPathogenic
Select item 90512	NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	MSH2 (P349A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity

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