"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142557	NM_000251.2(MSH2):c.-185C>A	MSH2	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 90495	NM_000251.2(MSH2):c.-81dup	MSH2	Duplication (5 prime UTR variant)	Lynch syndrome 1 +2 more	GUncertain significance
Select item 141079	NM_000251.2(MSH2):c.-73G>A	MSH2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182605	NM_000251.3(MSH2):c.-9G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 422224	NM_000251.3(MSH2):c.-8G>T	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 127624	NM_000251.3(MSH2):c.-3G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 90832	NM_000251.3(MSH2):c.1A>C (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 91114	NM_000251.3(MSH2):c.4_21dup (p.Ala2_Glu7dup)	MSH2	Duplication (inframe_insertion +2 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 41650	NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)	MSH2 (A2T)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely benign
Select item 134840	NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	MSH2 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 91181	NM_000251.3(MSH2):c.6G>T (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 182592	NM_000251.3(MSH2):c.11dup (p.Pro5fs)	MSH2 (P5fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 569035	NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)	MSH2 (Q4fs)	Indel (frameshift variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 90682	NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)	MSH2 (P5Q)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 491777	NM_000251.3(MSH2):c.15G>A (p.Pro5=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 455519	NM_000251.3(MSH2):c.16A>G (p.Lys6Glu)	MSH2 (K6E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 489932	NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)	MSH2 (E7A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 408481	NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)	MSH2 (E7G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 439195	NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)	MSH2 (A15T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 91113	NM_000251.3(MSH2):c.49G>T (p.Val17Phe)	MSH2 (V17F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 186237	NM_000251.3(MSH2):c.51C>A (p.Val17=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 188160	NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)	MSH2 (F23L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 185668	NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)	MSH2 (G25C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 185297	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	MSH2 (P27L)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 418943	NM_000251.3(MSH2):c.100G>A (p.Val34Met)	MSH2 (V34M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 231224	NM_000251.3(MSH2):c.108T>G (p.Leu36=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 90555	NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)	MSH2 (D38E)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 185640	NM_000251.3(MSH2):c.115C>A (p.Arg39=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 2682007	NM_000251.3(MSH2):c.120C>T (p.Gly40=)	MSH2	Single nucleotide variant (synonymous variant +3 more)	not provided	GUncertain significance
Select item 186463	NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)	MSH2 (D41E)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 182574	NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)	MSH2 (F42L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 408457	NM_000251.3(MSH2):c.132G>A (p.Thr44=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 752089	NM_000251.3(MSH2):c.135G>C (p.Ala45=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 408464	NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)	MSH2 (A50G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 186226	NM_000251.3(MSH2):c.159C>T (p.Ala53=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 220448	NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)	MSH2 (R55Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 188356	NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)	MSH2 (F58L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 90794	NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)	MSH2 (Q61*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 993113	NM_000251.3(MSH2):c.183G>A (p.Gln61=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184265	NM_000251.3(MSH2):c.186G>A (p.Gly62=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GLikely benign
Select item 619692	NM_000251.3(MSH2):c.188T>A (p.Val63Glu)	MSH2 (V63E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 182608	NM_000251.3(MSH2):c.198C>T (p.Tyr66=)	MSH2	Single nucleotide variant (synonymous variant +2 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 439189	NM_000251.3(MSH2):c.206C>T (p.Pro69Leu)	MSH2 (P69L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 993114	NM_000251.3(MSH2):c.210A>G (p.Ala70=)	MSH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 142708	NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	MSH2 (G71R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 428559	NM_000251.3(MSH2):c.211+1G>T	MSH2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 378154	NM_000251.3(MSH2):c.211+8C>T	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 90892	NM_000251.3(MSH2):c.212-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 567986	NM_000251.3(MSH2):c.218A>G (p.Lys73Arg)	MSH2 (K73R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134846	NM_000251.3(MSH2):c.220A>C (p.Asn74His)	MSH2 (N74H +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 142969	NM_000251.3(MSH2):c.228G>T (p.Gln76His)	MSH2 (Q76H +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 921106	NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)	MSH2 (F88S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1301317	NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)	MSH2 (D25Y +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
Select item 455586	NM_000251.3(MSH2):c.285T>C (p.Val95=)	MSH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 91062	NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)	MSH2 (R106K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 801210	NM_000251.3(MSH2):c.321del (p.Gly108fs)	MSH2 (G108fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 619867	NM_000251.3(MSH2):c.330G>C (p.Lys110Asn)	MSH2 (K110N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 135862	NM_000251.3(MSH2):c.336C>A (p.Ser112=)	MSH2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 619868	NM_000251.3(MSH2):c.339G>C (p.Lys113Asn)	MSH2 (K113N +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 237395	NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)	MSH2 (E114* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 408504	NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)	MSH2 (W117* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1330146	NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)	MSH2 (W117* +1 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic
Select item 483728	NM_000251.3(MSH2):c.353A>G (p.Tyr118Cys)	MSH2 (Y118C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2682011	NM_000251.3(MSH2):c.357G>T (p.Leu119Phe)	MSH2 (L119F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 91071	NM_000251.3(MSH2):c.366+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 577164	NM_000251.3(MSH2):c.367-3T>G	MSH2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 231360	NM_000251.3(MSH2):c.374C>T (p.Pro125Leu)	MSH2 (P125L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GUncertain significance
Select item 759567	NM_000251.3(MSH2):c.375T>G (p.Pro125=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GLikely benign
Select item 619869	NM_000251.3(MSH2):c.380dup (p.Asn127fs)	MSH2 (N61fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 91089	NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	MSH2 (Q130fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 127644	NM_000251.3(MSH2):c.382C>G (p.Leu128Val)	MSH2 (L128V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 187103	NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	MSH2 (L135V +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 127646	NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)	MSH2 (L135F +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 141500	NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)	MSH2 (G137R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 439193	NM_000251.3(MSH2):c.416A>G (p.Asn139Ser)	MSH2 (N139S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GUncertain significance
Select item 220510	NM_000251.3(MSH2):c.421_422del (p.Met141fs)	MSH2 (M141fs +1 more)	Microsatellite (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic
Select item 36578	NM_000251.3(MSH2):c.421A>G (p.Met141Val)	MSH2 (M141V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419266	NM_000251.3(MSH2):c.422T>C (p.Met141Thr)	MSH2 (M141T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 439194	NM_000251.3(MSH2):c.429T>C (p.Ala143=)	MSH2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 408460	NM_000251.3(MSH2):c.439G>A (p.Val147Ile)	MSH2 (V147I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 479821	NM_000251.3(MSH2):c.458C>G (p.Ser153Cys)	MSH2 (S153C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 455593	NM_000251.3(MSH2):c.464T>G (p.Val155Gly)	MSH2 (V155G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182580	NM_000251.3(MSH2):c.481G>A (p.Val161Ile)	MSH2 (V161I +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91105	NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	MSH2 (G162R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 91112	NM_000251.3(MSH2):c.499G>C (p.Asp167His)	MSH2 (D167H +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GBenign
Select item 525873	NM_000251.3(MSH2):c.501T>C (p.Asp167=)	MSH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 455594	NM_000251.3(MSH2):c.504C>T (p.Ser168=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 91115	NM_000251.3(MSH2):c.505A>G (p.Ile169Val)	MSH2 (I169V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 220157	NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)	MSH2 (Q170E +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 91117	NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)	MSH2 (Q170* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 428533	NM_000251.3(MSH2):c.509A>G (p.Gln170Arg)	MSH2 (Q170R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 439196	NM_000251.3(MSH2):c.516A>G (p.Lys172=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 91126	NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)	MSH2	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 91125	NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)	MSH2 (L175P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity

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