ClinVar for MedGen (Select 423615) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066204	NM_000251.3(MSH2):c.922_926del (p.Arg308fs)	MSH2 (R168fs +5 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 3066122	NM_000251.3(MSH2):c.2495_2496dup (p.Leu833fs)	MSH2 (L381fs +8 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 3065347	NM_000251.3(MSH2):c.211G>A (p.Gly71Arg)	MSH2 (D71N +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 3065320	NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del)	MSH2	Deletion (inframe_deletion +1 more)	Lynch syndrome 1	GUncertain significance
Select item 3064831	NM_000251.3(MSH2):c.1418C>A (p.Ser473Ter)	MSH2 (S174* +8 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2820975	NM_000251.3(MSH2):c.572T>C (p.Leu191Pro)	MSH2 (L125P +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 2691716	NM_000251.3:c.(1759+1_1760-1)_(2458+1_2459-1)del	MSH2	Deletion	Lynch syndrome 1	GPathogenic
Select item 2676722	NM_000251.3(MSH2):c.1527dup (p.Gln510fs)	MSH2 (Q211fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2676721	NM_000251.3(MSH2):c.367-3T>A	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1	GUncertain significance
Select item 2676720	NM_000251.3(MSH2):c.158C>T (p.Ala53Val)	MSH2 (A53V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 2676719	NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)	MSH2 (I295fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2676717	NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala)	MSH2 (G406A +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676716	NM_000251.3(MSH2):c.557A>C (p.Asn186Thr)	MSH2 (N120T +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 2676714	NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu)	MSH2 (A319E +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676713	NM_000251.3(MSH2):c.1696A>C (p.Asn566His)	MSH2 (N114H +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 2676712	NM_000251.3(MSH2):c.1396C>G (p.His466Asp)	MSH2 (H14D +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676711	NM_000251.3(MSH2):c.652C>A (p.Gln218Lys)	MSH2 (Q152K +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 2676710	NM_000251.3(MSH2):c.1427C>G (p.Pro476Arg)	MSH2 (P177R +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 2676708	NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)	MSH2 (V378F +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2676706	NM_000251.3(MSH2):c.2258G>T (p.Gly753Val)	MSH2 (G301V +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GUncertain significance
Select item 2674584	NM_000251.3(MSH2):c.943-51_988del	MSH2	Deletion (splice acceptor variant)	Lynch syndrome 1	GLikely pathogenic
Select item 2674583	NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)	MSH2 (L130R +3 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674582	NM_000251.3(MSH2):c.2005+2T>A	MSH2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674581	NM_000251.3(MSH2):c.2635-2del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674579	NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)	MSH2 (E297G +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674578	NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)	MSH2 (T280P +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674577	NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)	MSH2 (P244R +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674575	NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)	MSH2 (L190R +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2674574	NM_000251.3(MSH2):c.1272_1276+6del	MSH2	Deletion (splice donor variant)	Lynch syndrome 1	GLikely pathogenic
Select item 2674031	NM_000251.3(MSH2):c.1387-2A>T	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome 1 +1 more	GLikely pathogenic
Select item 2674020	NM_000251.3(MSH2):c.363_366dup (p.Ala123Ter)	MSH2 (A103* +2 more)	Duplication (nonsense +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2673989	NM_000251.3(MSH2):c.1051dup (p.Met351fs)	MSH2 (M211fs +6 more)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673899	NM_000251.3(MSH2):c.2637del (p.Gly880fs)	MSH2 (G428fs +4 more)	Deletion (intron variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2673480	NM_000251.3(MSH2):c.239_240dup (p.Ser81fs)	MSH2 (S15fs +1 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673479	NM_000251.3(MSH2):c.2557_2560dup (p.Phe854Ter)	MSH2 (F402* +8 more)	Duplication (nonsense +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673478	NM_000251.3(MSH2):c.158_159dup (p.Ala54fs)	MSH2 (A54fs)	Duplication (frameshift variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673477	NM_000251.3(MSH2):c.1248_1253delinsATCA (p.Asn416fs)	MSH2 (N117fs +6 more)	Indel (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673476	NM_000251.3(MSH2):c.1802_1803dup (p.Leu602fs)	MSH2 (L150fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673475	NM_000251.3(MSH2):c.1862_1907del (p.Arg621fs)	MSH2 (R169fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673474	NM_000251.3(MSH2):c.1228_1240delinsTACAA (p.Gly410fs)	MSH2 (G111fs +6 more)	Indel (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673473	NM_000251.3(MSH2):c.922dup (p.Arg308fs)	MSH2 (R168fs +5 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673472	NM_000251.3(MSH2):c.2263del (p.Ser755fs)	MSH2 (S303fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673471	NM_000251.3(MSH2):c.2163dup (p.Val722fs)	MSH2 (V270fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673470	NM_000251.3(MSH2):c.2263_2269del (p.Ser755fs)	MSH2 (S303fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673469	NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)	MSH2 (R200* +6 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673468	NM_000251.3(MSH2):c.656_664delinsATAGATAATTTCT (p.Arg219_Ile222delinsAsnArgTer)	MSH2	Indel (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673467	NM_000251.3(MSH2):c.1933del (p.Gln645fs)	MSH2 (Q193fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673465	NM_000251.3(MSH2):c.1366del (p.Thr456fs)	MSH2 (T157fs +7 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673464	NM_000251.3(MSH2):c.1049_1050del (p.Leu350fs)	MSH2 (L210fs +6 more)	Microsatellite (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673463	NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)	MSH2 (L140* +4 more)	Single nucleotide variant (nonsense +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673462	NM_000251.3(MSH2):c.1301del (p.Ala434fs)	MSH2 (A135fs +6 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673461	NM_000251.3(MSH2):c.2222_2225del (p.Lys741fs)	MSH2 (K289fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673460	NM_000251.3(MSH2):c.1332_1333dup (p.Ser445fs)	MSH2 (S146fs +6 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673459	NM_000251.3(MSH2):c.486_487del (p.Val163fs)	MSH2 (V143fs +3 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673458	NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)	MSH2 (L236* +6 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673456	NM_000251.3(MSH2):c.1405dup (p.Leu469fs)	MSH2 (L170fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673455	NM_000251.3(MSH2):c.2397_2400del (p.Leu800fs)	MSH2 (L348fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673454	NM_000251.3(MSH2):c.1311_1312dup (p.Thr438fs)	MSH2 (T139fs +6 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673453	NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)	MSH2 (L107* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673452	NM_000251.3(MSH2):c.1221dup (p.Tyr408fs)	MSH2 (Y109fs +6 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673451	NM_000251.3(MSH2):c.1242_1248dup (p.Val417delinsThrTer)	MSH2	Duplication (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673450	NM_000251.3(MSH2):c.2109del (p.Ile704fs)	MSH2 (I252fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673448	NM_000251.3(MSH2):c.1424dup (p.Asp475fs)	MSH2 (D176fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673447	NM_000251.3(MSH2):c.177_178insTACCCTTGGGGTACAAG (p.Thr60fs)	MSH2 (T60fs)	Insertion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673446	NM_000251.3(MSH2):c.448_452del (p.Val150fs)	MSH2 (V10fs +3 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673444	NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)	MSH2 (L118* +3 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673442	NM_000251.3(MSH2):c.1908_1923del (p.Ser637fs)	MSH2 (S185fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673441	NM_000251.3(MSH2):c.1723del (p.Asp575fs)	MSH2 (D123fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673440	NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs)	MSH2 (E356fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673439	NM_000251.3(MSH2):c.2382_2403del (p.Ile794fs)	MSH2 (I342fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673437	NM_000251.3(MSH2):c.74del (p.Gly25fs)	MSH2 (G25fs)	Deletion (non-coding transcript variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673436	NM_000251.3(MSH2):c.1804_1805insAG (p.Leu602fs)	MSH2 (L150fs +8 more)	Insertion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673435	NM_000251.3(MSH2):c.1679_1680insGA (p.Asn560fs)	MSH2 (N108fs +8 more)	Insertion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673434	NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)	MSH2 (Y305* +8 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673432	NM_000251.3(MSH2):c.715dup (p.Gln239fs)	MSH2 (Q173fs +3 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673431	NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)	MSH2 (G301* +8 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673429	NM_000251.3(MSH2):c.1534_1535delinsG (p.Lys512fs)	MSH2 (K213fs +8 more)	Indel (non-coding transcript variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673428	NM_000251.3(MSH2):c.247del (p.Lys82_Met83insTer)	MSH2	Deletion (nonsense +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673426	NM_000251.3(MSH2):c.792+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome 1	GPathogenic
Select item 2673425	NM_000251.3(MSH2):c.934_938dup (p.Gln314fs)	MSH2 (Q15fs +5 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673424	NM_000251.3(MSH2):c.1003dup (p.Thr335fs)	MSH2 (T195fs +6 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673423	NM_000251.3(MSH2):c.2437dup (p.Met813fs)	MSH2 (M361fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673422	NM_000251.3(MSH2):c.2150del (p.Ser717fs)	MSH2 (S265fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673421	NM_000251.3(MSH2):c.232_233del (p.Val78fs)	MSH2 (V12fs +1 more)	Microsatellite (frameshift variant +3 more)	Lynch syndrome 1	GPathogenic
Select item 2673420	NM_000251.3(MSH2):c.450del (p.Met152fs)	MSH2 (M12fs +3 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
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 2673418	NM_000251.3(MSH2):c.493_499del (p.Tyr165fs)	MSH2 (Y145fs +3 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673417	NM_000251.3(MSH2):c.2166_2188dup (p.Leu730fs)	MSH2 (L278fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673416	NM_000251.3(MSH2):c.2361_2364dup (p.Ala789fs)	MSH2 (A337fs +8 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673415	NM_000251.3(MSH2):c.2450_2451insC (p.Lys818fs)	MSH2 (K366fs +8 more)	Insertion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673414	NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)	MSH2 (R33* +2 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673413	NM_000251.3(MSH2):c.89del (p.Pro30fs)	MSH2 (P30fs)	Deletion (frameshift variant +3 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 2673412	NM_000251.3(MSH2):c.1195del (p.Ala399fs)	MSH2 (A100fs +6 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673411	NM_000251.3(MSH2):c.1326_1333del (p.Asp442_Leu443insTer)	MSH2	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673410	NM_000251.3(MSH2):c.2374_2375del (p.Asn792fs)	MSH2 (N340fs +8 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673409	NM_000251.3(MSH2):c.530_539del (p.Glu177fs)	MSH2 (E111fs +3 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673408	NM_000251.3(MSH2):c.1203_1204insTAA (p.Gln402Ter)	MSH2 (Q103* +6 more)	Insertion (nonsense +2 more)	Lynch syndrome 1	GPathogenic
Select item 2673407	NM_000251.3(MSH2):c.2613_2614delinsAT (p.Lys872Ter)	MSH2 (K420* +8 more)	Indel (nonsense +1 more)	Lynch syndrome 1	GPathogenic
Select item 2673406	NM_000251.3(MSH2):c.1036_1037dup (p.Lys347fs)	MSH2 (K207fs +6 more)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673405	NM_000251.3(MSH2):c.940_942+2del	MSH2	Deletion (splice donor variant +1 more)	Lynch syndrome 1	GPathogenic

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