"GeneDx"[submitter] AND "MLH1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1183730	NC_000003.12:g.36992955G>C	EPM2AIP1, LOC129936471 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 89600	NM_000249.4(MLH1):c.-93G>A	MLH1	Single nucleotide variant	Lynch syndrome	GBenign
Select item 420860	NM_000249.3(MLH1):c.-48C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 141055	NM_000249.3(MLH1):c.-43C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GUncertain significance
Select item 419154	NM_000249.3(MLH1):c.-42C>G	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
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 419430	NM_000249.3(MLH1):c.-37A>G	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 419846	NM_000249.3(MLH1):c.-35C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 515569	NM_000249.3(MLH1):c.-34A>C	MLH1	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 234367	NC_000003.12:g.36993515T>G	MLH1	Single nucleotide variant (genic upstream transcript variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 422064	NM_000249.3(MLH1):c.-32C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 418297	NM_000249.3(MLH1):c.-31dup	MLH1	Duplication (genic upstream transcript variant)	not specified	GLikely benign
Select item 418298	NM_000249.4(MLH1):c.-28A>C	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 89591	NM_000249.4(MLH1):c.-28A>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 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 421517	NM_000249.4(MLH1):c.-26G>A	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 234368	NM_000249.4(MLH1):c.-21C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422317	NM_000249.4(MLH1):c.-20T>C	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 422055	NM_000249.4(MLH1):c.-16C>G	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 182531	NM_000249.4(MLH1):c.-14C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 182532	NM_000249.4(MLH1):c.-12T>C	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 421030	NM_000249.4(MLH1):c.-11C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GUncertain significance
Select item 419182	NM_000249.4(MLH1):c.-9G>A	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 419858	NM_000249.4(MLH1):c.-8G>T	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2446348	NM_000249.4(MLH1):c.-6G>A	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1305450	NM_000249.4(MLH1):c.-4C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1310967	NM_000249.4(MLH1):c.5C>G (p.Ser2Trp)	MLH1 (S2W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 182533	NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)	MLH1 (S2L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GUncertain significance
Select item 421747	NM_000249.4(MLH1):c.9_21del (p.Phe3fs)	MLH1 (F3fs)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 185790	NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)	MLH1 (F3L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 630189	NM_000249.4(MLH1):c.10G>A (p.Val4Met)	MLH1 (V4M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 237315	NM_000249.4(MLH1):c.14C>T (p.Ala5Val)	MLH1 (A5V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1723699	NM_000249.4(MLH1):c.16G>T (p.Gly6Trp)	MLH1 (G6W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 182534	NM_000249.4(MLH1):c.19G>T (p.Val7Phe)	MLH1 (V7F)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 383571	NM_000249.4(MLH1):c.21T>C (p.Val7=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 184449	NM_000249.4(MLH1):c.24T>A (p.Ile8=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 919271	NM_000249.4(MLH1):c.25C>G (p.Arg9Gly)	MLH1 (R9G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 385415	NM_000249.4(MLH1):c.27G>T (p.Arg9=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 380379	NM_000249.4(MLH1):c.30G>T (p.Arg10=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 391017	NM_000249.4(MLH1):c.31C>T (p.Leu11=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 486850	NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)	MLH1 (E13Q)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 90207	NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)	MLH1 (E13fs)	Insertion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 405381	NM_000249.4(MLH1):c.41C>T (p.Thr14Ile)	MLH1 (T14I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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 +6 more	GConflicting classifications of pathogenicity
Select item 233273	NM_000249.4(MLH1):c.43G>A (p.Val15Met)	MLH1 (V15M)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 439180	NM_000249.4(MLH1):c.45G>C (p.Val15=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 455439	NM_000249.4(MLH1):c.46G>C (p.Val16Leu)	MLH1 (V16L)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GUncertain significance
Select item 231045	NM_000249.4(MLH1):c.47_53del (p.Val16fs)	MLH1 (V16fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 449059	NM_000249.4(MLH1):c.47T>G (p.Val16Gly)	MLH1 (V16G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 483588	NM_000249.4(MLH1):c.50A>G (p.Asn17Ser)	MLH1 (N17S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 382294	NM_000249.4(MLH1):c.51C>T (p.Asn17=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 90274	NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)	MLH1 (I19F)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 422508	NM_000249.4(MLH1):c.67dup (p.Glu23fs)	MLH1 (E23fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 90298	NM_000249.4(MLH1):c.62C>T (p.Ala21Val)	MLH1 (A21V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GPathogenic
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 90331	NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)	MLH1 (E23*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
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 449891	NM_000249.4(MLH1):c.71_75del (p.Val24fs)	MLH1 (V24fs)	Deletion (frameshift variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GPathogenic
Select item 422984	NM_000249.4(MLH1):c.73A>G (p.Ile25Val)	MLH1 (I25V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 90347	NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)	MLH1 (Q26*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
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 1723756	NM_000249.4(MLH1):c.83C>A (p.Pro28Gln)	MLH1 (P28Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 420921	NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)	MLH1 (A31T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GUncertain significance
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 419050	NM_000249.4(MLH1):c.94del (p.Ile32fs)	MLH1 (I32fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 36560	NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	MLH1 (I32V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 237353	NM_000249.4(MLH1):c.97A>G (p.Lys33Glu)	MLH1 (K33E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 186462	NM_000249.4(MLH1):c.108T>C (p.Ile36=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 182535	NM_000249.4(MLH1):c.108T>G (p.Ile36Met)	MLH1 (I36M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 413374	NM_000249.4(MLH1):c.114C>T (p.Asn38=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 89655	NM_000249.4(MLH1):c.115T>C (p.Cys39Arg)	MLH1 (C39R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 390881	NM_000249.4(MLH1):c.116+4C>T	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
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 89658	NM_000249.4(MLH1):c.116+5G>C	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome	GPathogenic
Select item 385116	NM_000249.4(MLH1):c.116+6G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 388132	NM_000249.4(MLH1):c.116+8G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 391201	NM_000249.4(MLH1):c.116+12G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 516449	NM_000249.4(MLH1):c.116+14C>G	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 138229	NM_000249.4(MLH1):c.116+220T>G	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 89665	NM_000249.4(MLH1):c.117-43_117-39del	MLH1	Deletion (intron variant)	Lynch syndrome	GLikely benign
Select item 419053	NM_000249.4(MLH1):c.117-16_117-15del	MLH1	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 386028	NM_000249.4(MLH1):c.117-16C>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 237310	NM_000249.4(MLH1):c.117-10G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 413369	NM_000249.4(MLH1):c.117-9A>G	MLH1	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GLikely benign
Select item 142856	NM_000249.4(MLH1):c.117-2A>G	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 89682	NM_000249.4(MLH1):c.121G>C (p.Asp41His)	MLH1 (D41H)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GPathogenic
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 89738	NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)	MLH1 (Q48*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
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 801201	NM_000249.4(MLH1):c.145G>A (p.Val49Met)	MLH1 (V49M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 420207	NM_000249.4(MLH1):c.150_153del (p.Val51fs)	MLH1 (V51fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 182512	NM_000249.4(MLH1):c.155_156del (p.Lys52fs)	MLH1 (K52fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 234586	NM_000249.4(MLH1):c.157G>A (p.Glu53Lys)	MLH1 (E53K)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance

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