"PreventionGenetics, part of Exact Sciences"[submitter] AND "MLH1"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033191	NM_014805.4(EPM2AIP1):c.-47C>T	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3050922	NM_014805.4(EPM2AIP1):c.-53T>G	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (5 prime UTR variant)	MLH1-related disorder	GLikely benign
Select item 3057019	NM_014805.3(EPM2AIP1):c.-57C>T	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 3030490	NM_014805.3(EPM2AIP1):c.-65T>A	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 3032195	NM_014805.3(EPM2AIP1):c.-70G>C	LOC129936471, MLH1	Single nucleotide variant	MLH1-related disorder	GLikely benign
Select item 344901	NM_000249.3(MLH1):c.-117G>T	MLH1	Single nucleotide variant	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 560779	NM_000249.3(MLH1):c.-100T>C	MLH1	Single nucleotide variant	not provided	GLikely benign
Select item 89600	NM_000249.3(MLH1):c.-93G>A	MLH1	Single nucleotide variant	Lynch syndrome	GBenign
Select item 89593	NM_000249.3(MLH1):c.-42C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GUncertain significance
Select item 234367	NM_000249.3(MLH1):c.-33T>G	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 184449	NM_000249.4(MLH1):c.24T>A (p.Ile8=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 220598	NM_000249.4(MLH1):c.31C>G (p.Leu11Val)	MLH1 (L11V)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 135853	NM_000249.4(MLH1):c.42A>C (p.Thr14=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	MLH1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 382294	NM_000249.4(MLH1):c.51C>T (p.Asn17=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 134656	NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)	MLH1 (R18C)	Single nucleotide variant (missense variant +1 more)	MLH1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 90306	NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)	MLH1 (G22A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 1365650	NM_000249.4(MLH1):c.74T>C (p.Ile25Thr)	MLH1 (I25T)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 186462	NM_000249.4(MLH1):c.108T>C (p.Ile36=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +4 more	GLikely benign
Select item 89688	NM_000249.4(MLH1):c.125C>T (p.Ala42Val)	MLH1 (A42V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 234208	NM_000249.4(MLH1):c.196A>G (p.Thr66Ala)	MLH1 (T66A)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
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 237333	NM_000249.4(MLH1):c.222T>C (p.Asp74=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 135852	NM_000249.4(MLH1):c.242C>T (p.Thr81Ile)	MLH1 (T81I)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GUncertain significance
Select item 219994	NM_000249.4(MLH1):c.261C>T (p.Ser87=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 90129	NM_000249.4(MLH1):c.292G>C (p.Gly98Arg)	MLH1 (G98R +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184174	NM_000249.4(MLH1):c.351G>A (p.Thr117=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GLikely benign
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 220186	NM_000249.4(MLH1):c.438A>G (p.Gln146=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 186027	NM_000249.4(MLH1):c.452C>T (p.Thr151Met)	MLH1 (T151M +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1043637	NM_000249.4(MLH1):c.454-3C>G	MLH1	Single nucleotide variant (intron variant)	MLH1-related disorder +1 more	GUncertain significance
Select item 1017893	NM_000249.4(MLH1):c.463C>T (p.Leu155Phe)	MLH1 (L122F +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 479709	NM_000249.4(MLH1):c.516A>G (p.Glu172=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36554	NM_000249.4(MLH1):c.545+20A>T	MLH1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 560783	NM_000249.4(MLH1):c.546-16del	MLH1	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GBenign/Likely benign
Select item 1748112	NM_000249.4(MLH1):c.552A>G (p.Ser184=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	MLH1-related disorder +1 more	GLikely benign
Select item 220027	NM_000249.4(MLH1):c.552A>T (p.Ser184=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 138230	NM_000249.4(MLH1):c.579A>G (p.Ser193=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	MLH1-related disorder +6 more	GBenign/Likely benign
Select item 36555	NM_000249.4(MLH1):c.588+11G>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 560784	NM_000249.4(MLH1):c.589-17T>A	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 36556	NM_000249.4(MLH1):c.589-15C>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 491716	NM_000249.4(MLH1):c.589-9G>T	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 1332520	NM_000249.4(MLH1):c.603A>G (p.Val201=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 142980	NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)	MLH1 (N209S +2 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 1643975	NM_000249.4(MLH1):c.633A>T (p.Ser211=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
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 90303	NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)	MLH1 (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
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 525803	NM_000249.4(MLH1):c.706A>G (p.Lys236Glu)	MLH1 (K236E +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 560785	NM_000249.4(MLH1):c.748A>T (p.Asn250Tyr)	MLH1 (N250Y +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 182519	NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)	MLH1 (L259S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 90355	NM_000249.4(MLH1):c.790+10A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 182536	NM_000249.4(MLH1):c.843A>C (p.Ala281=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 220219	NM_000249.4(MLH1):c.884+10C>T	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GBenign/Likely benign
Select item 3054807	NM_000249.4(MLH1):c.884+448T>C	MLH1	Single nucleotide variant (intron variant)	MLH1-related disorder	GLikely benign
Select item 90418	NM_000249.4(MLH1):c.885-21TC[2]	MLH1	Microsatellite (intron variant)	Lynch syndrome	GLikely benign
Select item 90424	NM_000249.4(MLH1):c.885-5G>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 575285	NM_000249.4(MLH1):c.953A>G (p.His318Arg)	MLH1 (H318R +3 more)	Single nucleotide variant (missense variant +2 more)	MLH1-related disorder +3 more	GUncertain significance
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 +9 more	GConflicting classifications of pathogenicity
Select item 229878	NM_000249.4(MLH1):c.970del (p.Glu324fs)	MLH1 (E226fs +3 more)	Deletion (frameshift variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GPathogenic/Likely pathogenic
Select item 90456	NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)	MLH1 (R325Q +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GLikely benign
Select item 182522	NM_000249.4(MLH1):c.976G>A (p.Val326Met)	MLH1 (V326M +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 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 230317	NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)	MLH1 (E331K +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 560780	NM_000249.4(MLH1):c.1020C>T (p.Ser340=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 184525	NM_000249.4(MLH1):c.1020C>G (p.Ser340=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 560781	NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)	MLH1 (Y343* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 182538	NM_000249.4(MLH1):c.1039-8_1039-7insTA	MLH1	Insertion (intron variant)	Breast carcinoma +4 more	GBenign/Likely benign
Select item 89621	NM_000249.4(MLH1):c.1039-2A>G	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 135844	NM_000249.4(MLH1):c.1050A>G (p.Pro350=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 142276	NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)	MLH1 (Y379C +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 127608	NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe)	MLH1 (Y379F +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 41633	NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	MLH1 (R389Q +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
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 479667	NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)	MLH1 (I419T +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 183955	NM_000249.4(MLH1):c.1284T>C (p.Asp428=)	MLH1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
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 1100957	NM_000249.4(MLH1):c.1359G>A (p.Lys453=)	MLH1	Single nucleotide variant (synonymous variant)	MLH1-related disorder +2 more	GBenign/Likely benign
Select item 89712	NM_000249.4(MLH1):c.1392T>C (p.Pro464=)	MLH1	Single nucleotide variant (synonymous variant)	Lynch syndrome +6 more	GBenign/Likely benign
Select item 89722	NM_000249.4(MLH1):c.1410-54C>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 379169	NM_000249.4(MLH1):c.1410-4G>T	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 89735	NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)	MLH1 (R474W +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2631570	NM_000249.4(MLH1):c.1438_1439del (p.Glu480fs)	MLH1 (E122fs +5 more)	Deletion (frameshift variant)	MLH1-related disorder	GLikely pathogenic
Select item 220651	NM_000249.4(MLH1):c.1476A>C (p.Ala492=)	MLH1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 89755	NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)	MLH1 (I501del +5 more)	Deletion (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 89757	NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)	MLH1 (V506A +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 186875	NM_000249.4(MLH1):c.1551A>G (p.Gly517=)	MLH1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 819530	NM_000249.4(MLH1):c.1559T>G (p.Val520Gly)	MLH1 (V179G +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 216331	NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)	MLH1 (R522W +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GUncertain significance
Select item 89791	NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)	MLH1 (R522Q +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 413370	NM_000249.4(MLH1):c.1590C>T (p.Phe530=)	MLH1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1343456	NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)	MLH1 (A539D +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 89812	NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)	MLH1 (T545A +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GUncertain significance
Select item 36542	NM_000249.4(MLH1):c.1668-19A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36543	NM_000249.4(MLH1):c.1732-19T>A	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GBenign/Likely benign
Select item 41635	NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)	MLH1 (P581L +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign

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