ClinVar for MedGen (Select 1633554) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076037	NM_000251.3(MSH2):c.115dup (p.Arg39fs)	MSH2 (R39fs)	Duplication (frameshift variant +3 more)	Lynch syndrome	GPathogenic
Select item 3076013	NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)	PMS2 (S113* +2 more)	Single nucleotide variant (intron variant +3 more)	Lynch syndrome	GPathogenic
Select item 3075845	NM_000179.3(MSH6):c.2410_2411insT (p.Lys804fs)	MSH6 (K502fs +8 more)	Insertion (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075803	NM_000251.3(MSH2):c.940del (p.Gln314fs)	MSH2 (Q15fs +5 more)	Deletion (frameshift variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 3075799	NM_000535.7(PMS2):c.2350del (p.Asp784fs)	PMS2 (D383fs +28 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 3075798	NM_000249.4(MLH1):c.1451del (p.Asp484fs)	MLH1 (D126fs +5 more)	Deletion (frameshift variant)	Lynch syndrome	GLikely pathogenic
Select item 3075797	NM_000251.3(MSH2):c.969_970del (p.Gln324fs)	MSH2 (Q184fs +6 more)	Microsatellite (non-coding transcript variant +2 more)	Lynch syndrome	GPathogenic
Select item 3075777	NM_000535.7(PMS2):c.13dup (p.Glu5fs)	PMS2 (E5fs)	Duplication (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075776	NM_000535.7(PMS2):c.63_75del (p.Ser22fs)	PMS2 (S22fs +1 more)	Deletion (frameshift variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 3075775	NM_000535.7(PMS2):c.559dup (p.Val187fs)	PMS2 (V187fs +5 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075774	NM_000179.3(MSH6):c.3430_3431insAA (p.Met1144fs)	MSH6 (M1014fs +14 more)	Insertion (frameshift variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 3075773	NM_000179.3(MSH6):c.1630del (p.Glu544fs)	MSH6 (E242fs +8 more)	Deletion (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075772	NM_000251.3(MSH2):c.1213_1217dup (p.Leu407fs)	MSH2 (L108fs +6 more)	Duplication (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075771	NM_000249.4(MLH1):c.83del (p.Pro28fs)	MLH1 (P28fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 3075770	NM_000249.4(MLH1):c.765_766insA (p.Cys256fs)	MLH1 (C158fs +3 more)	Insertion (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3075758	NM_000249.4(MLH1):c.885-1G>T	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 3075525	NM_000535.7(PMS2):c.1238A>G (p.Lys413Arg)	PMS2 (K102R +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075505	NM_000249.4(MLH1):c.1621G>T (p.Ala541Ser)	MLH1 (A183S +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GUncertain significance
Select item 3075504	NM_000249.4(MLH1):c.1458C>T (p.Ser486=)	MLH1	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 3075503	NM_000249.4(MLH1):c.925C>G (p.Pro309Ala)	MLH1 (P211A +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075502	NM_000249.4(MLH1):c.51C>A (p.Asn17Lys)	MLH1 (N17K)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3075501	NM_000179.3(MSH6):c.4004_4006dup (p.Glu1335_Val1336insGlu)	MSH6	Duplication (inframe_insertion +3 more)	Lynch syndrome	GUncertain significance
Select item 3075498	NM_000535.7(PMS2):c.1193A>G (p.Glu398Gly)	PMS2 (E141G +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075432	NM_000251.3(MSH2):c.2175C>G (p.Phe725Leu)	MSH2 (F273L +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3075285	NM_000179.3(MSH6):c.1764C>G (p.His588Gln)	MSH6 (H286Q +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075212	NM_000535.7(PMS2):c.122A>T (p.Glu41Val)	PMS2 (E103V +1 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3075084	NM_000251.3(MSH2):c.942+4_942+5insTA	MSH2	Insertion (intron variant)	Lynch syndrome	GUncertain significance
Select item 3075076	NM_000179.3(MSH6):c.1811A>C (p.Glu604Ala)	MSH6 (E302A +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3075055	NM_000249.4(MLH1):c.1543G>C (p.Glu515Gln)	MLH1 (E157Q +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GUncertain significance
Select item 3075039	NM_000179.3(MSH6):c.1999G>A (p.Asp667Asn)	MSH6 (D365N +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074989	NM_000179.3(MSH6):c.3447A>G (p.Leu1149=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 3074958	NM_000179.3(MSH6):c.3883_3901dup (p.Asn1301delinsThrTer)	MSH6 (M1297fs)	Duplication (nonsense +3 more)	Lynch syndrome	GLikely pathogenic
Select item 3074943	NM_000251.3(MSH2):c.908A>G (p.Asp303Gly)	MSH2 (D163G +5 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3074851	NM_000251.3(MSH2):c.*2A>C	MSH2	Single nucleotide variant (3 prime UTR variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074817	NM_000251.3(MSH2):c.2637A>C (p.Gln879His)	MSH2 (Q427H +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074794	NM_000535.7(PMS2):c.446A>G (p.Tyr149Cys)	PMS2 (Y149C +5 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3074552	NM_000251.3(MSH2):c.389A>G (p.Gln130Arg)	MSH2 (Q110R +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074546	NM_000249.4(MLH1):c.130T>C (p.Ser44Pro)	MLH1 (S44P)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074532	NM_000251.3(MSH2):c.769G>T (p.Val257Leu)	MSH2 (V117L +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074526	NM_000535.7(PMS2):c.1643A>T (p.Asp548Val)	PMS2 (D237V +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074521	NM_000249.4(MLH1):c.944A>T (p.His315Leu)	MLH1 (H217L +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074504	NM_000251.3(MSH2):c.761A>C (p.Asn254Thr)	MSH2 (N114T +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074490	NM_000179.3(MSH6):c.3439-6dup	MSH6	Duplication (intron variant)	Lynch syndrome	GLikely benign
Select item 3074468	NM_000179.3(MSH6):c.2839A>G (p.Asn947Asp)	MSH6 (N262D +9 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074426	NM_000179.3(MSH6):c.1809G>C (p.Lys603Asn)	MSH6 (K301N +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074422	NM_000251.3(MSH2):c.947C>G (p.Ser316Cys)	MSH2 (S176C +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074415	NM_000179.3(MSH6):c.3919_3920insGAT (p.Asn1307delinsArgTyr)	MSH6	Insertion (inframe_indel +3 more)	Lynch syndrome	GUncertain significance
Select item 3074414	NM_000179.3(MSH6):c.3918_3919delinsAGAT (p.Asn1307fs)	MSH6 (L1302fs +15 more)	Indel (frameshift variant +2 more)	Lynch syndrome	GLikely pathogenic
Select item 3074399	NM_000179.3(MSH6):c.1756G>A (p.Val586Met)	MSH6 (V284M +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074364	NM_000249.4(MLH1):c.709A>C (p.Thr237Pro)	MLH1 (T139P +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074332	NM_000179.3(MSH6):c.202A>C (p.Lys68Gln)	MSH6 (K68Q)	Single nucleotide variant (missense variant +4 more)	Lynch syndrome	GUncertain significance
Select item 3074281	NM_000251.3(MSH2):c.1599T>G (p.Leu533=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 3074221	NM_000179.3(MSH6):c.1541G>C (p.Cys514Ser)	MSH6 (C212S +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074155	NM_000251.3(MSH2):c.653A>G (p.Gln218Arg)	MSH2 (Q152R +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3074063	NM_000179.3(MSH6):c.2212G>T (p.Val738Leu)	MSH6 (V436L +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073989	NM_000179.3(MSH6):c.2740A>T (p.Thr914Ser)	MSH6 (T229S +9 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073881	NM_000251.3(MSH2):c.1864C>T (p.Pro622Ser)	MSH2 (P170S +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073850	NM_000251.3(MSH2):c.1387-13G>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GUncertain significance
Select item 3073839	NM_000179.3(MSH6):c.616G>A (p.Glu206Lys)	MSH6 (E107K +6 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3073836	NM_000249.4(MLH1):c.737T>C (p.Ile246Thr)	MLH1 (I148T +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073783	NM_000535.7(PMS2):c.1585T>A (p.Ser529Thr)	PMS2 (S218T +19 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073713	NM_000251.3(MSH2):c.243T>A (p.Ser81Arg)	MSH2 (S15R +1 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3073686	NM_000179.3(MSH6):c.3647-11T>C	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 3073620	NM_000251.3(MSH2):c.2722T>A (p.Leu908Ile)	MSH2 (L908I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GUncertain significance
Select item 3073611	NM_000179.3(MSH6):c.893G>C (p.Arg298Pro)	MSH6 (R123P +7 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3073605	NM_000179.3(MSH6):c.3835A>G (p.Ser1279Gly)	MSH6 (S1104G +14 more)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GUncertain significance
Select item 3073403	NM_000179.3(MSH6):c.1686T>C (p.Asp562=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 3073290	NM_000179.3(MSH6):c.1942A>G (p.Ser648Gly)	MSH6 (S346G +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073252	NM_000179.3(MSH6):c.155A>C (p.Glu52Ala)	MSH6 (E52A)	Single nucleotide variant (missense variant +4 more)	Lynch syndrome	GLikely benign
Select item 3073211	NM_000179.3(MSH6):c.94G>C (p.Gly32Arg)	MSH6 (G32R)	Single nucleotide variant (missense variant +4 more)	Lynch syndrome	GUncertain significance
Select item 3073180	NM_001406801.1(MSH6):c.3705-4del	MSH6	Deletion (intron variant)	Lynch syndrome	GUncertain significance
Select item 3073143	NM_000251.3(MSH2):c.2698T>C (p.Ser900Pro)	MSH2 (S448P +4 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3073133	NM_000179.3(MSH6):c.4028_4038dup (p.Ala1347delinsGlnLeuTer)	MSH6	Duplication (nonsense +2 more)	Lynch syndrome	GUncertain significance
Select item 3073067	NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)	MSH6 (G1041* +14 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GLikely pathogenic
Select item 3073041	NM_000251.3(MSH2):c.-13A>G	MSH2	Single nucleotide variant (5 prime UTR variant +2 more)	Lynch syndrome	GLikely benign
Select item 3073029	NM_000251.3(MSH2):c.1511-10G>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 3072934	NM_000179.3(MSH6):c.2118T>G (p.Phe706Leu)	MSH6 (F404L +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072918	NM_000251.3(MSH2):c.1427C>T (p.Pro476Leu)	MSH2 (P177L +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3072852	NM_000251.3(MSH2):c.1938T>A (p.Asp646Glu)	MSH2 (D194E +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072795	NM_000179.3(MSH6):c.3778G>A (p.Val1260Ile)	MSH6 (V1085I +14 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3072777	NM_000251.3(MSH2):c.2206C>A (p.Leu736Ile)	MSH2 (L284I +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3072692	NM_000251.3(MSH2):c.942+11_942+29del	MSH2	Deletion (intron variant)	Lynch syndrome	GLikely benign
Select item 3072568	NM_000251.3(MSH2):c.1841G>C (p.Gly614Ala)	MSH2 (G162A +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072556	NM_000179.3(MSH6):c.3557-14T>A	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GUncertain significance
Select item 3072555	NM_000251.3(MSH2):c.1820G>A (p.Ser607Asn)	MSH2 (S155N +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072528	NM_000251.3(MSH2):c.1056T>A (p.Asp352Glu)	MSH2 (D212E +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072527	NM_000251.3(MSH2):c.2597T>C (p.Met866Thr)	MSH2 (M414T +8 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3072507	NM_000179.3(MSH6):c.1003A>C (p.Asn335His)	MSH6 (N160H +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072469	NM_000249.4(MLH1):c.703G>A (p.Asp235Asn)	MLH1 (D137N +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072453	NM_000535.7(PMS2):c.1100T>C (p.Val367Ala)	PMS2 (V110A +14 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072371	NM_000249.4(MLH1):c.948C>G (p.Phe316Leu)	MLH1 (F218L +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072355	NM_000179.3(MSH6):c.3557-5T>G	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GUncertain significance
Select item 3072323	NM_000179.3(MSH6):c.1536G>A (p.Glu512=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GLikely benign
Select item 3072306	NM_000249.4(MLH1):c.1182T>C (p.Asp394=)	MLH1	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 3072276	NM_000249.4(MLH1):c.2081A>C (p.Glu694Ala)	MLH1 (E336A +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3072261	NM_000249.4(MLH1):c.372T>C (p.Cys124=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GUncertain significance
Select item 3072153	NM_000251.3(MSH2):c.1222T>C (p.Tyr408His)	MSH2 (Y109H +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072141	NM_000179.3(MSH6):c.3917C>G (p.Ala1306Gly)	MSH6 (A1004G +15 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072092	NM_000179.3(MSH6):c.2324A>T (p.Lys775Met)	MSH6 (K473M +8 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 3072051	NM_000251.3(MSH2):c.1031A>G (p.Gln344Arg)	MSH2 (Q204R +6 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance

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