lynch[Disease/Phenotype] AND insight[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90492	NM_000251.1(MSH2):c.-4729_367-353del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90486	NM_000251.1(MSH2):c.-1753_645+922del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90497	NM_000251.1(MSH2):c.-956_1077-5607del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90496	NM_000251.1(MSH2):c.-823_1076+5984del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90490	NM_000251.1(MSH2):c.-433T>G	MSH2	Single nucleotide variant	Lynch syndrome	GBenign
Select item 90485	NM_000251.2(MSH2):c.-118T>C	MSH2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GBenign
Select item 90494	NM_000251.2(MSH2):c.-78_-77del	MSH2	Deletion (5 prime UTR variant)	Lynch syndrome	GLikely pathogenic
Select item 90477	NM_000251.1(MSH2):c.(?_-68)_942+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90476	NM_000251.1(MSH2):c.(?_-68)_792+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90474	NM_000251.1(MSH2):c.(?_-68)_645+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90473	NM_000251.1(MSH2):c.(?_-68)_366+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90472	NM_000251.1(MSH2):c.(?_-68)_2634+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90471	NM_000251.1(MSH2):c.(?_-68)_211+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90470	NM_000251.1(MSH2):c.(?_-68)_1759+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90469	NM_000251.1(MSH2):c.(?_-68)_1661+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90468	NM_000251.1(MSH2):c.(?_-68)_1386+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90467	NM_000251.1(MSH2):c.(?_-68)_1276+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90465	NM_000251.2(MSH2):c.(?_-68)_1076+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90834	NM_000251.3(MSH2):c.1A>T (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 90833	NM_000251.3(MSH2):c.1A>G (p.Met1Val)	MSH2 (M1V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
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 91181	NM_000251.3(MSH2):c.6G>T (p.Ala2=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 630046	NM_000251.3(MSH2):c.7G>T (p.Val3Leu)	MSH2 (V3L)	Single nucleotide variant (intron variant +1 more)	Lynch syndrome	GBenign
Select item 90918	NM_000251.3(MSH2):c.21dup (p.Thr8fs)	MSH2 (T8fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90886	NM_000251.3(MSH2):c.20del (p.Glu7fs)	MSH2 (E7fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91058	NM_000251.3(MSH2):c.29dup (p.Leu11fs)	MSH2 (L11fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91055	NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)	MSH2 (Q10*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91068	NM_000251.3(MSH2):c.34dup (p.Glu12fs)	MSH2 (E12fs)	Duplication (intron variant +1 more)	Lynch syndrome	GPathogenic
Select item 91187	NM_000251.3(MSH2):c.71dup (p.Met26fs)	MSH2 (M26fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91193	NM_000251.3(MSH2):c.73_74insC (p.Gly25fs)	MSH2 (G25fs)	Insertion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91226	NM_000251.3(MSH2):c.82del (p.Glu28fs)	MSH2 (E28fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 91225	NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)	MSH2 (E28*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91257	NM_000251.3(MSH2):c.94_103del (p.Thr32fs)	MSH2 (T32fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90546	NM_000251.3(MSH2):c.110del (p.Phe37fs)	MSH2 (F37fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90563	NM_000251.3(MSH2):c.119del (p.Gly40fs)	MSH2 (G40fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90621	NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)	MSH2 (Y43*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90639	NM_000251.3(MSH2):c.136_164del (p.His46fs)	MSH2 (H46fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
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 90673	NM_000251.3(MSH2):c.145del (p.Asp49fs)	MSH2 (D49fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90672	NM_000251.3(MSH2):c.145_146del (p.Asp49fs)	MSH2 (D49fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90695	NM_000251.3(MSH2):c.154_155insG (p.Leu52fs)	MSH2 (L52fs)	Insertion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90712	NM_000251.3(MSH2):c.163del (p.Arg55fs)	MSH2 (R55fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 220448	NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)	MSH2 (R55Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 90742	NM_000251.3(MSH2):c.166del (p.Glu56fs)	MSH2 (E56fs)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90741	NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)	MSH2 (E56*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90794	NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)	MSH2 (Q61*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90809	NM_000251.3(MSH2):c.187dup (p.Val63fs)	MSH2 (V63fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90806	NM_000251.3(MSH2):c.186_187dup (p.Val63fs)	MSH2 (V63fs)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 90808	NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)	MSH2	Deletion (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90871	NM_000251.3(MSH2):c.204del (p.Pro69fs)	MSH2 (P69fs +1 more)	Deletion (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90891	NM_000251.3(MSH2):c.211+98T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90889	NM_000251.1(MSH2):c.211+1566_1277-3954del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90894	NM_000251.3(MSH2):c.212-478T>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 90893	NM_000251.3(MSH2):c.212-2A>G	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GLikely pathogenic
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 237382	NM_000251.3(MSH2):c.213A>G (p.Gly71=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome 1	GLikely benign
Select item 90939	NM_000251.3(MSH2):c.223_224del (p.Leu75fs)	MSH2 (L75fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90945	NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)	MSH2 (Q76* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90953	NM_000251.3(MSH2):c.229_230del (p.Ser77fs)	MSH2 (S11fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90973	NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)	MSH2	Indel (nonsense)	Lynch syndrome	GPathogenic
Select item 90975	NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)	MSH2 (K82* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91002	NM_000251.3(MSH2):c.255dup (p.Glu86Ter)	MSH2 (E86* +1 more)	Duplication (nonsense)	Lynch syndrome	GPathogenic
Select item 91001	NM_000251.3(MSH2):c.255_256del (p.Phe85fs)	MSH2 (F19fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91029	NM_000251.3(MSH2):c.263_264del (p.Phe88fs)	MSH2 (F88fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 1761	NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)	MSH2 (Y32fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
Select item 91044	NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)	MSH2 (L93F +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely pathogenic
Select item 91046	NM_000251.3(MSH2):c.278_279del (p.Leu93fs)	MSH2 (L93fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
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 91059	NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)	MSH2 (E101* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
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 91062	NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)	MSH2 (R106K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 36576	NM_000251.3(MSH2):c.339G>A (p.Lys113=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 91066	NM_000251.3(MSH2):c.344del (p.Asn115fs)	MSH2 (N115fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91067	NM_000251.3(MSH2):c.347_350del (p.Asp116fs)	MSH2 (D50fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91069	NM_000251.3(MSH2):c.352dup (p.Tyr118fs)	MSH2 (Y118fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
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 91071	NM_000251.3(MSH2):c.366+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 91079	NM_000251.3(MSH2):c.367-681_646-956del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91078	NM_000251.3(MSH2):c.367-466_645+658del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91077	NM_000251.3(MSH2):c.367-452_646-722del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91076	NM_000251.3(MSH2):c.367-371_646-513del	MSH2	Deletion (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 91075	NM_000251.3(MSH2):c.367-1G>A	MSH2	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 91086	NM_000251.3(MSH2):c.368del (p.Ala123fs)	MSH2 (A123fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91088	NM_000251.3(MSH2):c.380_381del (p.Asn127fs)	MSH2 (N61fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91089	NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	MSH2 (Q130fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91090	NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	MSH2 (Q64fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91093	NM_000251.3(MSH2):c.399del (p.Asp133fs)	MSH2 (D133fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91094	NM_000251.3(MSH2):c.408del (p.Phe136fs)	MSH2 (F136fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91095	NM_000251.3(MSH2):c.416del (p.Asn139fs)	MSH2 (N139fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91096	NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)	MSH2 (S142* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1768	NM_000251.3(MSH2):c.454del (p.Met152fs)	MSH2 (M86fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91101	NM_000251.3(MSH2):c.471C>A (p.Gly157=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign

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