C2936783[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184896	NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)	MUTYH (P272S +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 90488	NC_000002.12:g.47402967G>C	MSH2	Single nucleotide variant	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 230000	NM_000251.1(MSH2):c.-182C>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184792	NM_000251.3(MSH2):c.-181G>A	MSH2	Single nucleotide variant	Lynch syndrome 1 +5 more	GUncertain significance
Select item 141069	NM_000251.1(MSH2):c.-179C>T	MSH2	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 90495	NM_000251.2(MSH2):c.-81dup	MSH2	Duplication (5 prime UTR variant)	not provided +2 more	GUncertain significance
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 127624	NM_000251.3(MSH2):c.-3G>C	MSH2	Single nucleotide variant (5 prime UTR variant +1 more)	Lynch syndrome 1 +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 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 232346	NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)	MSH2 (Q4L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
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 183934	NM_000251.3(MSH2):c.42G>A (p.Ala14=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome +3 more	GBenign/Likely benign
Select item 182595	NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)	MSH2 (F19L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 185297	NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)	MSH2 (P27L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185140	NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)	MSH2 (P30L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 91267	NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	MSH2 (T33P)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 371804	NM_000251.3(MSH2):c.108T>C (p.Leu36=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely 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 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 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 90662	NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	MSH2 (E48*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90675	NM_000251.3(MSH2):c.146A>T (p.Asp49Val)	MSH2 (D49V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
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 185536	NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)	MSH2 (A54S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 90798	NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)	MSH2 (Q61P)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 182608	NM_000251.3(MSH2):c.198C>T (p.Tyr66=)	MSH2	Single nucleotide variant (non-coding transcript variant +2 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 232807	NM_000251.3(MSH2):c.200T>A (p.Met67Lys)	MSH2 (M67K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 378154	NM_000251.3(MSH2):c.211+8C>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1 +4 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 141032	NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)	MSH2 (S87C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 91041	NM_000251.3(MSH2):c.274C>G (p.Leu92Val)	MSH2 (L92V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 91053	NM_000251.3(MSH2):c.287G>A (p.Arg96His)	MSH2 (R96H +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91054	NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)	MSH2 (Q97* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91060	NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)	MSH2	Deletion (inframe_deletion)	Lynch syndrome	GLikely pathogenic
Select item 36575	NM_000251.3(MSH2):c.304G>A (p.Val102Ile)	MSH2 (V102I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91061	NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)	MSH2 (Y103C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
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 548765	NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)	MSH2 (Y118* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 371862	NM_000251.3(MSH2):c.366+24A>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 372070	NM_000251.3(MSH2):c.366+25C>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 182607	NM_000251.3(MSH2):c.367-19A>T	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 371972	NM_000251.3(MSH2):c.376G>C (p.Gly126Arg)	MSH2 (G126R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +3 more	GUncertain significance
Select item 182576	NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	MSH2 (L128R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 91092	NM_000251.3(MSH2):c.399C>T (p.Asp133=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary nonpolyposis colorectal neoplasms +4 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 231613	NM_000251.3(MSH2):c.433A>G (p.Ile145Val)	MSH2 (I145V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +9 more	GConflicting classifications of pathogenicity
Select item 186918	NM_000251.3(MSH2):c.437G>T (p.Gly146Val)	MSH2 (G146V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 91098	NM_000251.3(MSH2):c.438T>C (p.Gly146=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome 1 +4 more	GBenign/Likely benign
Select item 91100	NM_000251.3(MSH2):c.459C>T (p.Ser153=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 216361	NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)	MSH2 (G157A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 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 220154	NM_000251.3(MSH2):c.507A>G (p.Ile169Met)	MSH2 (I169M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 91133	NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)	MSH2 (N120S)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 182583	NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	MSH2 (A189G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 220000	NM_000251.3(MSH2):c.606C>T (p.Pro202=)	MSH2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 127647	NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)	MSH2 (G203R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127648	NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)	MSH2 (G204R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 220153	NM_000251.3(MSH2):c.646-3T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 91174	NM_000251.3(MSH2):c.672C>G (p.Ile224Met)	MSH2 (I224M +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 182588	NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)	MSH2 (T234I +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 91185	NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)	MSH2 (Q239* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 182589	NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)	MSH2 (Q239R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 91189	NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)	MSH2 (R243Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 91200	NM_000251.3(MSH2):c.762T>C (p.Asn254=)	MSH2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 182590	NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)	MSH2 (A256T +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91206	NM_000251.3(MSH2):c.792+5A>G	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 371908	NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)	MSH2 (S269* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 91222	NM_000251.3(MSH2):c.811_814del (p.Ser271fs)	MSH2 (S205fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 41651	NM_000251.3(MSH2):c.815C>T (p.Ala272Val)	MSH2 (A272V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 187433	NM_000251.3(MSH2):c.820A>G (p.Ile274Val)	MSH2 (I274V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 135865	NM_000251.3(MSH2):c.835C>G (p.Leu279Val)	MSH2 (L279V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127654	NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)	MSH2 (D282G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 230546	NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)	MSH2 (D295E +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 91242	NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)	MSH2 (L302* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 219619	NM_000251.3(MSH2):c.934C>G (p.Leu312Val)	MSH2 (L312V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 548811	NM_000251.3(MSH2):c.943-25T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 91254	NM_000251.3(MSH2):c.943-2A>G	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 142516	NM_000251.3(MSH2):c.965G>T (p.Gly322Val)	MSH2 (G322V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 187194	NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)	MSH2 (S323F +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 91260	NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)	MSH2 (S323C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 91264	NM_000251.3(MSH2):c.972G>A (p.Gln324=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 548741	NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)	MSH2 (A328P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 408558	NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)	MSH2 (A328T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 91271	NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)	MSH2 (N331D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
Select item 91273	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2 (C333Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 90500	NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser)	MSH2 (P336S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 220628	NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)	MSH2 (G338A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 232192	NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)	MSH2 (L341V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 187660	NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)	MSH2 (Q348R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GUncertain significance
Select item 90513	NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)	MSH2 (P349R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 188133	NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)	MSH2 (E357A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 548718	NM_000251.3(MSH2):c.1076+23C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GLikely benign
Select item 516283	NM_000251.3(MSH2):c.1077-15G>T	MSH2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 237358	NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)	MSH2 (Q377R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity

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