"Illumina Laboratory Services, Illumina"[submitter] AND "MLH1"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344901	NM_000249.3(MLH1):c.-117G>T	MLH1	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 344902	NM_000249.3(MLH1):c.-114T>C	MLH1	Single nucleotide variant	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 89587	NM_000249.3(MLH1):c.-107C>G	MLH1	Single nucleotide variant	Lynch syndrome	GLikely benign
Select item 344903	NM_000249.3(MLH1):c.-101C>G	MLH1	Single nucleotide variant	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 89600	NM_000249.3(MLH1):c.-93G>A	MLH1	Single nucleotide variant	Lynch syndrome	GBenign
Select item 344904	NM_000249.3(MLH1):c.-86G>A	MLH1	Single nucleotide variant	Lynch syndrome	GUncertain significance
Select item 89590	NM_000249.4(MLH1):c.-28A>G	MLH1	Single nucleotide variant (5 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 344905	NM_000249.4(MLH1):c.-22C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 182533	NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)	MLH1 (S2L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 135853	NM_000249.4(MLH1):c.42A>C (p.Thr14=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 483546	NM_000249.4(MLH1):c.52C>G (p.Arg18Gly)	MLH1 (R18G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 237347	NM_000249.4(MLH1):c.81G>A (p.Arg27=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 902649	NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)	MLH1 (A31S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 183068	NM_000249.4(MLH1):c.92C>G (p.Ala31Gly)	MLH1 (A31G)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	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 90140	NM_000249.4(MLH1):c.303T>G (p.Gly101=)	MLH1	Single nucleotide variant (synonymous variant +3 more)	Lynch syndrome	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 (5 prime UTR variant +1 more)	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 90257	NM_000249.4(MLH1):c.539T>G (p.Val180Gly)	MLH1 (V180G +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 344906	NM_000249.4(MLH1):c.546-5del	MLH1	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
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 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)	Hereditary cancer-predisposing syndrome +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 36558	NM_000249.4(MLH1):c.702G>A (p.Glu234=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
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 specified +7 more	GConflicting classifications of pathogenicity
Select item 232984	NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)	MLH1 (Y283C +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GUncertain significance
Select item 237351	NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)	MLH1 (T310A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 344907	NM_000249.4(MLH1):c.1038+15C>T	MLH1	Single nucleotide variant (intron variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 36539	NM_000249.4(MLH1):c.1039-8T>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 184661	NM_000249.4(MLH1):c.1104G>A (p.Ser368=)	MLH1	Single nucleotide variant (synonymous 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)	Colorectal cancer, hereditary nonpolyposis, type 2 +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)	Mismatch repair cancer syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 135845	NM_000249.4(MLH1):c.1175A>G (p.Lys392Arg)	MLH1 (K392R +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 184416	NM_000249.4(MLH1):c.1236C>T (p.Val412=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 89690	NM_000249.4(MLH1):c.1266C>T (p.Gly422=)	MLH1	Single nucleotide variant (synonymous variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182541	NM_000249.4(MLH1):c.1269G>A (p.Arg423=)	MLH1	Single nucleotide variant (synonymous variant)	not specified +4 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 89705	NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)	MLH1 (G454R +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 344908	NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg)	MLH1 (S508R +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 455393	NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)	MLH1 (N514S +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36541	NM_000249.4(MLH1):c.1558+14G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 127616	NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)	MLH1 (M524I +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 185728	NM_000249.4(MLH1):c.1620G>A (p.Leu540=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 231032	NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 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)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 344909	NM_000249.4(MLH1):c.1731+11A>T	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 17090	NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)	MLH1 (E578G +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 185937	NM_000249.4(MLH1):c.1743G>A (p.Pro581=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 41636	NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)	MLH1 (P603R +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 89895	NM_000249.4(MLH1):c.1820T>A (p.Leu607His)	MLH1 (L607H +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 89903	NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)	MLH1 (K618E +5 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 89906	NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)	MLH1 (K618T +5 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 186026	NM_000249.4(MLH1):c.1854G>A (p.Lys618=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 36546	NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 41637	NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	MLH1 (I655V +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 387266	NM_000249.4(MLH1):c.1989+12A>G	MLH1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 439173	NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr)	MLH1 (S675T +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 90007	NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)	MLH1 (C680G +7 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 90016	NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)	MLH1 (Q689R +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 344910	NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 90042	NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)	MLH1 (Q701K +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 41639	NM_000249.4(MLH1):c.2146G>A (p.Val716Met)	MLH1 (V618M +7 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36547	NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	MLH1 (H718Y +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90082	NM_000249.4(MLH1):c.2174G>A (p.Arg725His)	MLH1 (R725H +8 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 90100	NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)	MLH1 (K751R +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 36549	NM_000249.4(MLH1):c.*32CTT[1]	MLH1	Microsatellite (3 prime UTR variant)	Lynch syndrome	GBenign
Select item 135561	NM_000249.4(MLH1):c.*32C>T	MLH1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 901875	NM_000249.4(MLH1):c.*121A>G	MLH1	Single nucleotide variant (3 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 2	GUncertain significance
Select item 344911	NM_000249.4(MLH1):c.*158GATT[1]	MLH1	Microsatellite (3 prime UTR variant)	not provided +1 more	GLikely benign

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Items: 75