"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MLH1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89590	NM_000249.4(MLH1):c.-28A>G	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 89589	NM_000249.4(MLH1):c.-27C>A	MLH1	Single nucleotide variant (5 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 89599	NM_000249.4(MLH1):c.-7C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 90332	NM_000249.4(MLH1):c.67del (p.Glu23fs)	MLH1 (E23fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90397	NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)	MLH1 (A29S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 955911	NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr)	MLH1 (N38Y)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 89662	NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)	MLH1 (C39Y)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 218011	NM_000249.4(MLH1):c.116+5G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 89793	NM_000249.4(MLH1):c.156del (p.Glu53fs)	MLH1 (E53fs)	Deletion (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 218021	NM_000249.4(MLH1):c.194G>T (p.Gly65Val)	MLH1 (G65V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 89981	NM_000249.4(MLH1):c.198C>T (p.Thr66=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 89992	NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	MLH1 (G67R)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 17106	NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)	MLH1 (G67E)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 90020	NM_000249.4(MLH1):c.207+1G>A	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 90067	NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)	MLH1 (E71del)	Microsatellite (inframe_deletion +2 more)	Lynch syndrome	GPathogenic
Select item 90126	NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)	MLH1 (S93G)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 188169	NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)	MLH1 (T96A)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 218023	NM_000249.4(MLH1):c.293G>A (p.Gly98Asp)	MLH1 (G98D +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 36550	NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)	MLH1 (R100*)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome	GPathogenic
Select item 90141	NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)	MLH1 (E102K)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90148	NM_000249.4(MLH1):c.306+5G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 90156	NM_000249.4(MLH1):c.307-29C>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 218024	NM_000249.3(MLH1):c.307-?_380+?del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 90178	NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)	MLH1 (T117R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90183	NM_000249.4(MLH1):c.375A>G (p.Ala125=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 17096	NM_000249.4(MLH1):c.394G>C (p.Asp132His)	MLH1 (D132H +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36552	NM_000249.4(MLH1):c.453+25A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90227	NM_000249.4(MLH1):c.453+79A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90236	NM_000249.4(MLH1):c.454-51T>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90243	NM_000249.4(MLH1):c.474C>T (p.Asn158=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 1	GBenign
Select item 90250	NM_000249.4(MLH1):c.503dup (p.Asn168fs)	MLH1 (N135fs +2 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 379286	NM_000249.4(MLH1):c.545+1G>T	MLH1	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 825746	NM_000249.4(MLH1):c.545+2T>C	MLH1	Single nucleotide variant (splice donor variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GPathogenic
Select item 36554	NM_000249.4(MLH1):c.545+20A>T	MLH1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GBenign
Select item 90267	NM_000249.4(MLH1):c.546-2A>G	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GPathogenic
Select item 218025	NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)	MLH1 (K195* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 492680	NM_000249.4(MLH1):c.588+7T>C	MLH1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 36555	NM_000249.4(MLH1):c.588+11G>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 36556	NM_000249.4(MLH1):c.589-15C>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 1750326	NM_000249.4(MLH1):c.589-3C>G	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41640	NM_000249.4(MLH1):c.637G>A (p.Val213Met)	MLH1 (V213M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36557	NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	MLH1 (I219V +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 826590	NM_000249.4(MLH1):c.673dup (p.Ser225fs)	MLH1 (S127fs +2 more)	Duplication (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 17087	NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	MLH1 (R226* +2 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90318	NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	MLH1 (R226Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90315	NM_000249.4(MLH1):c.677+3A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 184050	NM_000249.4(MLH1):c.682C>A (p.Leu228Met)	MLH1 (L228M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 36558	NM_000249.4(MLH1):c.702G>A (p.Glu234=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 419044	NM_000249.4(MLH1):c.710C>T (p.Thr237Ile)	MLH1 (T237I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 90355	NM_000249.4(MLH1):c.790+10A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 218027	NM_000249.4(MLH1):c.793del (p.Arg265fs)	MLH1 (R265fs +3 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 90380	NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)	MLH1 (R265S +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 182536	NM_000249.4(MLH1):c.843A>C (p.Ala281=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 90420	NM_000249.4(MLH1):c.885-24T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 90444	NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)	MLH1 (P309S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 230595	NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)	MLH1 (K311E +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90452	NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	MLH1 (E319K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 42496	NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	MLH1 (V326A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 141442	NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)	MLH1 (G336D +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 492681	NM_000249.4(MLH1):c.1032del (p.Phe344fs)	MLH1 (F344fs +4 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GPathogenic/Likely pathogenic
Select item 89625	NM_000249.4(MLH1):c.1039-78A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 492682	NM_000249.4(MLH1):c.1039-29del	MLH1	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 193978	NM_000249.4(MLH1):c.1039-8del	MLH1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 492683	NM_000249.4(MLH1):c.1039-27T>A	MLH1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 492684	NM_000249.4(MLH1):c.1039-26T>A	MLH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 492685	NM_000249.4(MLH1):c.1039-25T>A	MLH1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 492686	NM_000249.4(MLH1):c.1039-24T>A	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 492687	NM_000249.4(MLH1):c.1039-23T>A	MLH1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 36539	NM_000249.4(MLH1):c.1039-8T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 182518	NM_000249.4(MLH1):c.1039-3C>G	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 89653	NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	MLH1 (R385C +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer +10 more	GConflicting classifications of pathogenicity
Select item 89661	NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)	MLH1 (R389W +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 143002	NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg)	MLH1 (Q391R +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 41634	NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)	MLH1 (S406N +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 371799	NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)	MLH1 (Q407* +5 more)	Single nucleotide variant (nonsense)	Lynch syndrome +5 more	GPathogenic/Likely pathogenic
Select item 479667	NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)	MLH1 (I419T +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 218012	NM_000249.4(MLH1):c.1258del (p.Ser420fs)	MLH1 (S387fs +5 more)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GPathogenic
Select item 220203	NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)	MLH1 (A424T +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 89696	NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)	MLH1 (A441T +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 127612	NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)	MLH1 (E448D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 219538	NM_000249.4(MLH1):c.1351A>G (p.Thr451Ala)	MLH1 (T451A +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36540	NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)	MLH1 (K461* +5 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89744	NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	MLH1 (R487* +5 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89753	NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	MLH1 (R399fs +5 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 220185	NM_000249.4(MLH1):c.1558+1G>A	MLH1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 218013	NM_000249.4(MLH1):c.1558+22C>T	MLH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 89812	NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	MLH1 (T545A +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GUncertain significance
Select item 218015	NM_000249.4(MLH1):c.1668-185T>C	MLH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218014	NM_000249.4(MLH1):c.1668-139dup	MLH1	Duplication (intron variant)	not provided	GUncertain significance
Select item 36542	NM_000249.4(MLH1):c.1668-19A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 483536	NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys)	MLH1 (Y561C +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 218016	NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)	MLH1 (I205fs +5 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 218017	NM_000249.4(MLH1):c.1719del (p.Leu574fs)	MLH1 (L233fs +5 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 89857	NM_000249.4(MLH1):c.1731G>A (p.Ser577=)	MLH1	Single nucleotide variant (synonymous variant)	Lynch syndrome	GPathogenic
Select item 36543	NM_000249.4(MLH1):c.1732-19T>A	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GBenign/Likely benign
Select item 89865	NM_000249.3(MLH1):c.1732-?_(*193_?)del	MLH1	Deletion	Lynch syndrome	GPathogenic
Select item 89886	NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)	MLH1 (D493fs +5 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 89887	NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs)	MLH1 (P593fs +5 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic

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