ClinVar for MedGen (Select 318886) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379262	NM_000179.3(MSH6):c.3008dup (p.Cys1003fs)	MSH6 (C1003fs +9 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 3379248	NM_000179.3(MSH6):c.3410_3414delinsACT (p.Met1137fs)	MSH6 (M1007fs +14 more)	Indel (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 3359102	NM_000179.3(MSH6):c.2806del (p.Asp936fs)	MSH6 (D251fs +9 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GLikely pathogenic
Select item 3358986	NM_000179.3(MSH6):c.3811dup (p.Val1271fs)	MSH6 (V1096fs +14 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 3358951	NM_000179.3(MSH6):c.3647-2A>G	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome 5	GLikely pathogenic
Select item 3296358	NM_000179.3(MSH6):c.261-2A>C	MSH6	Single nucleotide variant (5 prime UTR variant +2 more)	Lynch syndrome 5 +1 more	GLikely pathogenic
Select item 3256612	NM_000179.3(MSH6):c.1046A>T (p.Gln349Leu)	MSH6 (Q174L +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5	GUncertain significance
Select item 3256158	NM_000179.3(MSH6):c.2561_2562delinsTT	MSH6 (K854M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254383	NM_000179.3(MSH6):c.2392dup (p.Leu798fs)	MSH6 (L496fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 3254381	NM_000179.3(MSH6):c.2614dup (p.Ile872fs)	MSH6 (I570fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 3254026	NM_000179.3(MSH6):c.3604_3605del (p.Met1202fs)	MSH6 (M1027fs +14 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 3242599	NM_000179.3(MSH6):c.1655A>C (p.His552Pro)	MSH6 (H250P +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5	GUncertain significance
Select item 3235204	NM_000179.3(MSH6):c.1245G>C (p.Gln415His)	MSH6 (Q113H +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5	GUncertain significance
Select item 3230582	NM_000179.3(MSH6):c.466del (p.Ser156fs)	MSH6 (S100fs +5 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 3148719	NM_000179.3(MSH6):c.3865_3887dup (p.Lys1296fs)	MSH6 (K1008fs +14 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GLikely pathogenic
Select item 3148696	NM_000179.3(MSH6):c.3874_3899del (p.Lys1291_Gly1292insTer)	MSH6 (R1287fs)	Deletion (nonsense +3 more)	Lynch syndrome 5	GPathogenic
Select item 3148686	NM_000179.3(MSH6):c.3858_3859dup (p.Tyr1287fs)	MSH6 (Y1231fs +15 more)	Microsatellite (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 3148676	NM_000179.3(MSH6):c.692_693dup (p.Gln232fs)	MSH6 (Q176fs +7 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 3148673	NM_000179.3(MSH6):c.2187_2194del (p.Tyr730fs)	MSH6 (Y704fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 3148653	NM_000179.3(MSH6):c.1559delinsTAC (p.Gly520fs)	MSH6 (G345fs +8 more)	Indel (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 3065147	NM_000179.3(MSH6):c.1846T>C (p.Ser616Pro)	MSH6 (S314P +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5	GLikely benign
Select item 3063704	NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]	PMS2 (S523T +23 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2708474	NM_000179.3(MSH6):c.1633A>T (p.Lys545Ter)	MSH6 (K415* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2683985	NM_000179.3(MSH6):c.3067G>C (p.Glu1023Gln)	MSH6 (E1023Q +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2674027	NM_000179.3(MSH6):c.3849_3850del (p.Thr1284fs)	MSH6 (L1279fs +15 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2674014	NM_000179.3(MSH6):c.2615_2616del (p.Ile872fs)	MSH6 (I570fs +8 more)	Microsatellite (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2674013	NM_000179.3(MSH6):c.706del (p.Gln236fs)	MSH6 (Q106fs +7 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2674011	NM_000179.3(MSH6):c.3701_3702insT (p.Glu1234fs)	MSH6 (E1059fs +14 more)	Insertion (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2674010	NM_000179.3(MSH6):c.1283dup (p.Val429fs)	MSH6 (V127fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2674009	NM_000179.3(MSH6):c.1990dup (p.Ser664fs)	MSH6 (S362fs +8 more)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2674006	NM_000179.3(MSH6):c.3305_3306insA (p.Gly1105fs)	MSH6 (G1006fs +13 more)	Insertion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673994	NM_000179.3(MSH6):c.2697_2698insT (p.Gly900fs)	MSH6 (G215fs +9 more)	Insertion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673924	NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)	MSH6 (E206* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673898	NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)	MSH6 (R1032L +14 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 5	GLikely pathogenic
Select item 2673798	NM_000179.3(MSH6):c.2883_2886dup (p.Gly963fs)	MSH6 (G278fs +9 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673797	NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)	MSH6 (S663* +14 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673796	NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)	MSH6 (K390* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673795	NM_000179.3(MSH6):c.3110_3111insA (p.Phe1037fs)	MSH6 (F1011fs +9 more)	Insertion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673794	NM_000179.3(MSH6):c.745del (p.Arg249fs)	MSH6 (R119fs +7 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673792	NM_000179.3(MSH6):c.1406delinsTG (p.Tyr469fs)	MSH6 (Y167fs +8 more)	Indel (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673791	NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)	MSH6 (K241* +8 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2673790	NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)	MSH6 (L377* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673789	NM_000179.3(MSH6):c.533dup (p.Ala179fs)	MSH6 (A123fs +6 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673788	NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)	MSH6 (E231* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673787	NM_000179.3(MSH6):c.3915_3916insA (p.Ala1306fs)	MSH6 (A1004fs +15 more)	Insertion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673786	NM_000179.3(MSH6):c.767del (p.Ser256fs)	MSH6 (S126fs +7 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673785	NM_000179.3(MSH6):c.3189_3192dup (p.Asn1065delinsGlyTer)	MSH6	Duplication (nonsense +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673784	NM_000179.3(MSH6):c.1965dup (p.Pro656fs)	MSH6 (P354fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673783	NM_000179.3(MSH6):c.2778dup (p.Ile927fs)	MSH6 (I242fs +9 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673782	NM_000179.3(MSH6):c.3518_3519insA (p.Phe1174fs)	MSH6 (F101fs +14 more)	Insertion (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673781	NM_000179.3(MSH6):c.3602_3614del (p.Leu1201fs)	MSH6 (L1026fs +14 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673780	NM_000179.3(MSH6):c.702dup (p.Thr235fs)	MSH6 (T105fs +7 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673779	NM_000179.3(MSH6):c.3932_3933dup (p.Val1312fs)	MSH6 (L1308fs +15 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673778	NM_000179.3(MSH6):c.748del (p.Val250fs)	MSH6 (V120fs +7 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673777	NM_000179.3(MSH6):c.962delinsAGAGCTAGTTGCT (p.Ser321Ter)	MSH6 (S146* +8 more)	Indel (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673776	NM_000179.3(MSH6):c.3863_3876del (p.Lys1288fs)	MSH6 (K1000fs +15 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673775	NM_000179.3(MSH6):c.693dup (p.Gln232fs)	MSH6 (Q102fs +7 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673774	NM_000179.3(MSH6):c.2834_2845delinsA (p.Arg945fs)	MSH6 (R260fs +9 more)	Indel (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673773	NM_000179.3(MSH6):c.2830del (p.Asp943_Ile944insTer)	MSH6	Deletion (nonsense +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673772	NM_000179.3(MSH6):c.2441dup (p.Leu815fs)	MSH6 (L513fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673771	NM_000179.3(MSH6):c.1975_1976insCT (p.Leu659fs)	MSH6 (L357fs +8 more)	Insertion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673770	NM_000179.3(MSH6):c.1593_1596del (p.Ser532fs)	MSH6 (S230fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673769	NM_000179.3(MSH6):c.506dup (p.Pro170fs)	MSH6 (P114fs +5 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673768	NM_000179.3(MSH6):c.3812dup (p.Glu1272fs)	MSH6 (E1097fs +14 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673767	NM_000179.3(MSH6):c.418dup (p.Arg140fs)	MSH6 (R114fs +4 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673766	NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)	MSH6	Deletion (nonsense +2 more)	Lynch syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 2673765	NM_000179.3(MSH6):c.677dup (p.Ser227fs)	MSH6 (S128fs +7 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673764	NM_000179.3(MSH6):c.3301_3302del (p.Lys1101fs)	MSH6 (K1002fs +13 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673763	NM_000179.3(MSH6):c.1324_1366dup (p.Trp456delinsTyrTrpSerGlnTer)	MSH6	Duplication (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673762	NM_000179.3(MSH6):c.2332_2335dup (p.Cys779fs)	MSH6 (C477fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673761	NM_000179.3(MSH6):c.362del (p.Arg121fs)	MSH6 (R121fs +4 more)	Deletion (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673760	NM_000179.3(MSH6):c.2100_2105delinsA (p.Leu701fs)	MSH6 (L399fs +8 more)	Indel (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673759	NM_000179.3(MSH6):c.3947_3951dup (p.Arg1318fs)	MSH6 (I1313fs +15 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673758	NM_000179.3(MSH6):c.3859_3862dup (p.Lys1288delinsIleTer)	MSH6 (N1284fs)	Microsatellite (nonsense +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673757	NM_000179.3(MSH6):c.1754_1772del (p.Leu585fs)	MSH6 (L283fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673756	NM_000179.3(MSH6):c.1406del (p.Tyr469fs)	MSH6 (Y167fs +8 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2673755	NM_000179.3(MSH6):c.2502_2515del (p.Ser834fs)	MSH6 (S532fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673754	NM_000179.3(MSH6):c.699_702dup (p.Thr235Ter)	MSH6 (T105* +7 more)	Duplication (nonsense +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673753	NM_000179.3(MSH6):c.3959_3962dup (p.Arg1321fs)	MSH6 (E1317fs +15 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673752	NM_000179.3(MSH6):c.2872_2873dup (p.Gln958fs)	MSH6 (Q273fs +9 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673751	NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)	MSH6 (K568* +8 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673750	NM_000179.3(MSH6):c.1866_1887del (p.Ile622fs)	MSH6 (I320fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673749	NM_000179.3(MSH6):c.3587_3627dup (p.Val1210fs)	MSH6 (V1035fs +14 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673748	NM_000179.3(MSH6):c.3728del (p.Thr1243fs)	MSH6 (T1068fs +14 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673747	NM_000179.3(MSH6):c.3698_3699dup (p.Glu1234fs)	MSH6 (E1059fs +14 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673746	NM_000179.3(MSH6):c.3404dup (p.Asn1136fs)	MSH6 (N1006fs +14 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673745	NM_000179.3(MSH6):c.2291del (p.Thr764fs)	MSH6 (T462fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673744	NM_000179.3(MSH6):c.2497_2501del (p.Lys833fs)	MSH6 (K531fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673743	NM_000179.3(MSH6):c.2641_2642delinsA (p.Gly881fs)	MSH6 (G579fs +8 more)	Indel (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673742	NM_000179.3(MSH6):c.2159del (p.Thr720fs)	MSH6 (T418fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673741	NM_000179.3(MSH6):c.2993del (p.Ser998fs)	MSH6 (S1000fs +9 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673740	NM_000179.3(MSH6):c.3657dup (p.Ala1220fs)	MSH6 (A1045fs +14 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673739	NM_000179.3(MSH6):c.3863_3864del (p.Lys1288fs)	MSH6 (K1000fs +15 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673738	NM_000179.3(MSH6):c.1641dup (p.Asp548fs)	MSH6 (D246fs +8 more)	Duplication (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic
Select item 2673737	NM_000179.3(MSH6):c.3798_3801dup (p.Ala1268fs)	MSH6 (A1093fs +16 more)	Duplication (frameshift variant +1 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 2673736	NM_000179.3(MSH6):c.872dup (p.Asn291fs)	MSH6 (N116fs +7 more)	Duplication (frameshift variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673735	NM_000179.3(MSH6):c.666_667del (p.Asp222fs)	MSH6 (D123fs +7 more)	Deletion (5 prime UTR variant +3 more)	Lynch syndrome 5	GPathogenic
Select item 2673734	NC_000002.12:g.47806204_47806207del	MSH6	Deletion	Lynch syndrome 5	GPathogenic
Select item 2673733	NM_000179.3(MSH6):c.3601_3620del (p.Leu1201fs)	MSH6 (L1026fs +14 more)	Deletion (frameshift variant +1 more)	Lynch syndrome 5	GPathogenic
Select item 2673732	NM_000179.3(MSH6):c.1217_1220delinsATA (p.Cys406fs)	MSH6 (C104fs +8 more)	Indel (frameshift variant +2 more)	Lynch syndrome 5	GPathogenic

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