"Color Diagnostics, LLC DBA Color Health"[submitter] AND "MLH1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +3 more	GUncertain significance
Select item 89590	NM_000249.4(MLH1):c.-28A>G	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 220516	NM_000249.4(MLH1):c.-27C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
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 1171947	NM_000249.4(MLH1):c.-15_28del (p.Met1fs)	MLH1 (M1fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 491666	NM_000249.4(MLH1):c.-16C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 918587	NM_000249.4(MLH1):c.-15T>C	MLH1	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome +1 more	GConflicting classifications of pathogenicity
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 629796	NM_000249.4(MLH1):c.-11C>G	MLH1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 421030	NM_000249.4(MLH1):c.-11C>T	MLH1	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 491697	NM_000249.4(MLH1):c.1A>C (p.Met1Leu)	MLH1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 928016	NM_000249.4(MLH1):c.5_7del (p.Ser2del)	MLH1 (S2del)	Deletion (inframe_deletion +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GUncertain significance
Select item 90211	NM_000249.4(MLH1):c.3G>A (p.Met1Ile)	MLH1 (M1I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 182533	NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)	MLH1 (S2L)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 629220	NM_000249.4(MLH1):c.6G>A (p.Ser2=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 237346	NM_000249.4(MLH1):c.7T>C (p.Phe3Leu)	MLH1 (F3L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 185790	NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)	MLH1 (F3L)	Single nucleotide variant (missense variant +1 more)	not specified +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 1776125	NM_000249.4(MLH1):c.15A>G (p.Ala5=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
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 182534	NM_000249.4(MLH1):c.19G>T (p.Val7Phe)	MLH1 (V7F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	not specified +2 more	GLikely benign
Select item 923063	NM_000249.4(MLH1):c.22A>G (p.Ile8Val)	MLH1 (I8V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 919271	NM_000249.4(MLH1):c.25C>G (p.Arg9Gly)	MLH1 (R9G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 90122	NM_000249.4(MLH1):c.25C>T (p.Arg9Trp)	MLH1 (R9W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 576418	NM_000249.4(MLH1):c.26G>A (p.Arg9Gln)	MLH1 (R9Q)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 385415	NM_000249.4(MLH1):c.27G>T (p.Arg9=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 489898	NM_000249.4(MLH1):c.28C>T (p.Arg10Trp)	MLH1 (R10W)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GUncertain significance
Select item 439176	NM_000249.4(MLH1):c.28C>G (p.Arg10Gly)	MLH1 (R10G)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +3 more	GUncertain significance
Select item 489899	NM_000249.4(MLH1):c.29G>T (p.Arg10Leu)	MLH1 (R10L)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 230802	NM_000249.4(MLH1):c.29G>A (p.Arg10Gln)	MLH1 (R10Q)	Single nucleotide variant (missense variant +1 more)	Muir-Torré syndrome +3 more	GUncertain significance
Select item 926161	NM_000249.4(MLH1):c.30G>A (p.Arg10=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 380379	NM_000249.4(MLH1):c.30G>T (p.Arg10=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 525949	NM_000249.4(MLH1):c.33G>A (p.Leu11=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +2 more	GLikely benign
Select item 824094	NM_000249.4(MLH1):c.36C>T (p.Asp12=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 142017	NM_000249.4(MLH1):c.36C>G (p.Asp12Glu)	MLH1 (D12E)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GUncertain significance
Select item 486850	NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)	MLH1 (E13Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 192220	NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)	MLH1 (E13K)	Single nucleotide variant (missense variant +1 more)	not provided +5 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 644911	NM_000249.4(MLH1):c.43G>C (p.Val15Leu)	MLH1 (V15L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 220145	NM_000249.4(MLH1):c.44T>C (p.Val15Ala)	MLH1 (V15A)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +3 more	GUncertain significance
Select item 439180	NM_000249.4(MLH1):c.45G>C (p.Val15=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +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)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 232514	NM_000249.4(MLH1):c.46G>A (p.Val16Met)	MLH1 (V16M)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 449059	NM_000249.4(MLH1):c.47T>G (p.Val16Gly)	MLH1 (V16G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 924351	NM_000249.4(MLH1):c.57C>G (p.Ile19Met)	MLH1 (I19M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 489901	NM_000249.4(MLH1):c.58G>A (p.Ala20Thr)	MLH1 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919247	NM_000249.4(MLH1):c.59C>T (p.Ala20Val)	MLH1 (A20V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 920736	NM_000249.4(MLH1):c.60G>T (p.Ala20=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 455447	NM_000249.4(MLH1):c.63G>A (p.Ala21=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +2 more	GLikely benign
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 (synonymous variant +1 more)	Breast and/or ovarian cancer +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)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1759729	NM_000249.4(MLH1):c.75C>T (p.Ile25=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 489903	NM_000249.4(MLH1):c.79C>G (p.Arg27Gly)	MLH1 (R27G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 479677	NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)	MLH1 (R27W)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 216337	NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)	MLH1 (R27Q)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 627728	NM_000249.4(MLH1):c.82C>T (p.Pro28Ser)	MLH1 (P28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 90388	NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)	MLH1 (P28L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 629311	NM_000249.4(MLH1):c.86C>A (p.Ala29Asp)	MLH1 (A29D)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +2 more	GUncertain significance
Select item 925482	NM_000249.4(MLH1):c.89A>G (p.Asn30Ser)	MLH1 (N30S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 420921	NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)	MLH1 (A31T)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +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 924296	NM_000249.4(MLH1):c.93T>C (p.Ala31=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 36560	NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	MLH1 (I32V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1332664	NM_000249.4(MLH1):c.96C>T (p.Ile32=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 455465	NM_000249.4(MLH1):c.96C>G (p.Ile32Met)	MLH1 (I32M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 823596	NM_000249.4(MLH1):c.99A>C (p.Lys33Asn)	MLH1 (K33N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 855922	NM_000249.4(MLH1):c.102G>T (p.Glu34Asp)	MLH1 (E34D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 577034	NM_000249.4(MLH1):c.107T>C (p.Ile36Thr)	MLH1 (I36T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 413374	NM_000249.4(MLH1):c.114C>T (p.Asn38=)	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GLikely benign
Select item 89651	NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)	MLH1 (N38K)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 628023	NM_000249.4(MLH1):c.116+4C>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 218011	NM_000249.4(MLH1):c.116+5G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome +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)	Hereditary nonpolyposis colorectal neoplasms +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 925316	NM_000249.4(MLH1):c.116+9G>A	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 413378	NM_000249.4(MLH1):c.116+10_116+12del	MLH1	Deletion (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 491671	NM_000249.4(MLH1):c.116+10G>T	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 455375	NM_000249.4(MLH1):c.116+10G>C	MLH1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GLikely benign
Select item 924152	NM_000249.4(MLH1):c.116+12dup	MLH1	Duplication (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	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 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 630825	NM_000249.4(MLH1):c.117-9A>T	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 413369	NM_000249.4(MLH1):c.117-9A>G	MLH1	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2773557	NM_000249.4(MLH1):c.117-5G>A	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	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 794298	NM_000249.4(MLH1):c.126A>G (p.Ala42=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 629129	NM_000249.4(MLH1):c.126A>C (p.Ala42=)	MLH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 920470	NM_000249.4(MLH1):c.132del (p.Thr45fs)	MLH1 (T45fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic

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