C2936783[trait identifier] AND "Baylor Genetics"[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 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 630046	NM_000251.3(MSH2):c.7G>T (p.Val3Leu)	MSH2 (V3L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 582790	NM_000251.3(MSH2):c.7G>A (p.Val3Met)	MSH2 (V3M)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 237357	NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)	MSH2 (Q4K)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 577145	NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)	MSH2 (Q4P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182561	NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)	MSH2 (P5L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 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 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 485834	NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)	MSH2 (E7Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 408516	NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)	MSH2 (T8R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1023819	NM_000251.3(MSH2):c.25C>G (p.Leu9Val)	MSH2 (L9V)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 455590	NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)	MSH2 (E12A)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 245828	NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)	MSH2 (S13N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 573526	NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)	MSH2 (S13R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 421121	NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)	MSH2 (E16A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 408552	NM_000251.3(MSH2):c.48G>C (p.Glu16Asp)	MSH2 (E16D)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +2 more	GUncertain significance
Select item 491829	NM_000251.3(MSH2):c.49G>A (p.Val17Ile)	MSH2 (V17I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 650519	NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)	MSH2 (F19S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 644882	NM_000251.3(MSH2):c.58G>C (p.Val20Leu)	MSH2 (V20L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 419807	NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)	MSH2 (R21L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 142964	NM_000251.3(MSH2):c.66C>G (p.Phe22Leu)	MSH2 (F22L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 184810	NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)	MSH2 (G25D)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +5 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 1767524	NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)	MSH2 (T32I)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +2 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 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 142842	NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)	MSH2 (R39P)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 90560	NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)	MSH2 (G40S)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 237361	NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)	MSH2 (D41Y)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 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 182574	NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)	MSH2 (F42L)	Single nucleotide variant (missense variant +1 more)	not specified +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 142872	NM_000251.3(MSH2):c.131C>A (p.Thr44Lys)	MSH2 (T44K)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 483663	NM_000251.3(MSH2):c.136C>T (p.His46Tyr)	MSH2 (H46Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 182582	NM_000251.3(MSH2):c.147C>G (p.Asp49Glu)	MSH2 (D49E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GUncertain significance
Select item 231884	NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)	MSH2 (A53S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2676720	NM_000251.3(MSH2):c.158C>T (p.Ala53Val)	MSH2 (A53V)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 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 483666	NM_000251.3(MSH2):c.161C>T (p.Ala54Val)	MSH2 (A54V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142277	NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)	MSH2 (R55G)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 455516	NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)	MSH2 (E56Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135854	NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)	MSH2 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 408521	NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)	MSH2 (F58L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 246289	NM_000251.3(MSH2):c.185G>C (p.Gly62Ala)	MSH2 (G62A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 489927	NM_000251.3(MSH2):c.187G>T (p.Val63Leu)	MSH2 (V63L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 856802	NM_000251.3(MSH2):c.190A>G (p.Ile64Val)	MSH2 (I64V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 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 820583	NM_000251.3(MSH2):c.203G>A (p.Gly68Glu)	MSH2 (G2E +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 134841	NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)	MSH2 (A70T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
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 1786095	NM_000251.3(MSH2):c.211+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 483670	NM_000251.3(MSH2):c.211+3G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome +3 more	GConflicting classifications of pathogenicity
Select item 848138	NM_000251.3(MSH2):c.211+5G>A	MSH2	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 408473	NM_000251.3(MSH2):c.211+5G>T	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 919817	NM_000251.3(MSH2):c.247A>C (p.Met83Leu)	MSH2 (M17L +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 408535	NM_000251.3(MSH2):c.247A>G (p.Met83Val)	MSH2 (M83V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 923746	NM_000251.3(MSH2):c.249G>C (p.Met83Ile)	MSH2 (M83I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GUncertain significance
Select item 662989	NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr)	MSH2 (N18Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 660955	NM_000251.3(MSH2):c.257A>G (p.Glu86Gly)	MSH2 (E20G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2587534	NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)	MSH2 (D71A +2 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 234193	NM_000251.3(MSH2):c.272A>T (p.Asp91Val)	MSH2 (D91V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 91060	NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)	MSH2	Deletion (inframe_deletion)	Lynch syndrome	GLikely pathogenic
Select item 91063	NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)	MSH2 (A107P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 479818	NM_000251.3(MSH2):c.320C>T (p.Ala107Val)	MSH2 (A107V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231062	NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)	MSH2 (A107G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 479788	NM_000251.3(MSH2):c.323G>T (p.Gly108Val)	MSH2 (G108V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 127642	NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)	MSH2 (K110Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 246010	NM_000251.3(MSH2):c.335C>T (p.Ser112Phe)	MSH2 (S112F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 823686	NM_000251.3(MSH2):c.337A>G (p.Lys113Glu)	MSH2 (K113E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 91070	NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)	MSH2 (Y121* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 655121	NM_000251.3(MSH2):c.364A>G (p.Lys122Glu)	MSH2 (K122E +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 2676721	NM_000251.3(MSH2):c.367-3T>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GUncertain significance
Select item 182575	NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)	MSH2 (A123G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
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 186849	NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)	MSH2 (G126S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 91089	NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	MSH2 (Q130fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
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 182577	NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)	MSH2 (S129C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127645	NM_000251.3(MSH2):c.386C>T (p.Ser129Phe)	MSH2 (S129F +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 408452	NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	MSH2 (Q130* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 91090	NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	MSH2 (Q64fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 932193	NM_000251.3(MSH2):c.395A>T (p.Glu132Val)	MSH2 (E132V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GUncertain significance
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 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 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 2673419	NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)	MSH2	Microsatellite (nonsense +2 more)	Lynch syndrome 1	GPathogenic/Likely pathogenic
Select item 91099	NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)	MSH2 (G149D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 3239756	NM_000251.3(MSH2):c.449_454delinsCGGACATTT (p.Val150_Met152delinsAlaAspIleLeu)	MSH2	Indel (inframe_indel +2 more)	Lynch syndrome 1	GUncertain significance
Select item 825021	NM_000251.3(MSH2):c.458C>T (p.Ser153Phe)	MSH2 (S153F +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 847146	NM_000251.3(MSH2):c.463del (p.Val155fs)	MSH2 (V155fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic

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