C1333991[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89587	NC_000003.12:g.36993441C>G	MLH1	Single nucleotide variant	Lynch syndrome	GLikely benign
Select item 89593	NM_000249.4(MLH1):c.-42C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
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 185608	NM_000249.4(MLH1):c.18G>A (p.Gly6=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 192220	NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)	MLH1 (E13K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 134656	NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)	MLH1 (R18C)	Single nucleotide variant (missense variant +1 more)	not provided +5 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 183075	NM_000249.4(MLH1):c.69A>G (p.Glu23=)	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome +6 more	GBenign/Likely benign
Select item 90335	NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)	MLH1 (E23D)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 216337	NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)	MLH1 (R27Q)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 36559	NM_000249.4(MLH1):c.80G>C (p.Arg27Pro)	MLH1 (R27P)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 90392	NM_000249.4(MLH1):c.84del (p.Ala29fs)	MLH1 (A29fs)	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 90442	NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)	MLH1 (A31C)	Indel (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
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 548721	NM_000249.4(MLH1):c.117-48A>G	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely benign
Select item 371983	NM_000249.4(MLH1):c.117-39G>A	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2	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 449060	NM_000249.4(MLH1):c.144A>C (p.Gln48His)	MLH1 (Q48H)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 89947	NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	MLH1 (N64S)	Single nucleotide variant (missense variant +2 more)	Muir-Torré syndrome +10 more	GConflicting classifications of pathogenicity
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 372029	NM_000249.4(MLH1):c.207+26del	MLH1	Deletion (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely benign
Select item 371808	NM_001354629.2(MLH1):c.208-3445_208-3433del	MLH1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
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 421912	NM_000249.4(MLH1):c.283del (p.Ser95fs)	MLH1 (S95fs)	Deletion (frameshift variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 90127	NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)	MLH1 (S95A)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GUncertain significance
Select item 184486	NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)	MLH1 (Y97C +1 more)	Single nucleotide variant (missense variant +3 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 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 90132	NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)	MLH1 (R100Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +7 more	GUncertain significance
Select item 132758	NM_000249.4(MLH1):c.307-10T>C	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 487413	NM_000249.4(MLH1):c.325del (p.His109fs)	MLH1 (H109fs +2 more)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 90176	NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)	MLH1 (T116K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
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 90184	NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)	MLH1 (Y126N +2 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 90197	NM_000249.4(MLH1):c.381-43C>G	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +1 more	GLikely benign
Select item 187211	NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)	MLH1 (P139A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
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 90223	NM_000249.4(MLH1):c.453+1G>T	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 371909	NM_000249.4(MLH1):c.454-1G>C	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome +3 more	GPathogenic/Likely pathogenic
Select item 90257	NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	MLH1 (V180G +2 more)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 68851	NM_000249.4(MLH1):c.545+19G>T	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 372032	NM_000249.4(MLH1):c.546-18T>C	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 138230	NM_000249.4(MLH1):c.579A>G (p.Ser193=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GBenign/Likely benign
Select item 371941	NM_000249.4(MLH1):c.589-25G>A	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely benign
Select item 371986	NM_000249.4(MLH1):c.589-24T>C	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely benign
Select item 405385	NM_000249.4(MLH1):c.589-6T>G	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 90291	NM_000249.4(MLH1):c.589-2A>G	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GPathogenic
Select item 90293	NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)	MLH1 (E199Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 186017	NM_000249.4(MLH1):c.601G>C (p.Val201Leu)	MLH1 (V201L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 142980	NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)	MLH1 (N209S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 184491	NM_000249.4(MLH1):c.636C>T (p.Thr212=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
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 90311	NM_000249.4(MLH1):c.677+1G>A	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 491723	NM_000249.4(MLH1):c.677+7C>T	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GLikely benign
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 230963	NM_000249.4(MLH1):c.705T>C (p.Asp235=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GBenign/Likely benign
Select item 134657	NM_000249.4(MLH1):c.721A>G (p.Lys241Glu)	MLH1 (K241E +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	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)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 405420	NM_000249.4(MLH1):c.779T>A (p.Leu260His)	MLH1 (L260H +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 548860	NM_000249.4(MLH1):c.790+17dup	MLH1	Duplication (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 371889	NM_000249.4(MLH1):c.791-14T>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome +4 more	GBenign/Likely benign
Select item 29654	NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	MLH1 (R265C +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90381	NM_000249.4(MLH1):c.794G>A (p.Arg265His)	MLH1 (R265H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 90382	NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)	MLH1 (E268G +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 230184	NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)	MLH1 (T270A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 90413	NM_000249.4(MLH1):c.884+3A>G	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 237349	NM_000249.4(MLH1):c.884+10del	MLH1	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 220219	NM_000249.4(MLH1):c.884+10C>T	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GBenign/Likely benign
Select item 90410	NM_000249.4(MLH1):c.884+15A>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 182537	NM_000249.4(MLH1):c.884+16A>G	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 237350	NM_000249.4(MLH1):c.885-8C>T	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 232668	NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)	MLH1 (L296S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 90445	NM_000249.4(MLH1):c.927C>T (p.Pro309=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 183730	NM_000249.4(MLH1):c.954C>T (p.His318=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
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 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 141891	NM_000249.4(MLH1):c.979C>G (p.Gln327Glu)	MLH1 (Q327E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GUncertain significance
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 89604	NM_000249.4(MLH1):c.1011dup (p.Asn338fs)	MLH1 (N338fs +3 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 186715	NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys)	MLH1 (S337C +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 89614	NM_000249.4(MLH1):c.1038+51C>T	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 142664	NM_000249.4(MLH1):c.1039-5T>C	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GBenign/Likely benign
Select item 485797	NM_000249.4(MLH1):c.1039-4A>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 233096	NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)	MLH1 (T364del +5 more)	Microsatellite (inframe_deletion)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 184661	NM_000249.4(MLH1):c.1104G>A (p.Ser368=)	MLH1	Single nucleotide variant (synonymous variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 186843	NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)	MLH1 (G373R +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 219943	NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)	MLH1 (S374R +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 89643	NM_000249.4(MLH1):c.1128T>C (p.Asp376=)	MLH1	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
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 127609	NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)	MLH1 (M383T +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 140759	NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	MLH1 (R385H +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 41633	NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	MLH1 (R389Q +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 127611	NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)	MLH1 (S401N +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 371796	NM_000249.4(MLH1):c.1210C>T (p.Leu404=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GBenign/Likely benign
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 220069	NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)	MLH1 (K416* +5 more)	Single nucleotide variant (nonsense)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GPathogenic
Select item 232095	NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly)	MLH1 (S421G +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance

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