ClinVar for MedGen (Select 1750327) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382152	NM_000251.3(MSH2):c.2395_2396insTT (p.Asn799fs)	MSH2 (N347fs +8 more)	Insertion (frameshift variant +1 more)	Lynch syndrome 1 +2 more	GLikely pathogenic
Select item 1490001	NM_000251.3(MSH2):c.943G>T (p.Gly315Cys)	MSH2 (G249C +1 more)	Single nucleotide variant (missense variant)	Muir-Torré syndrome +3 more	GUncertain significance
Select item 1066844	NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs)	MSH2 (R148fs +1 more)	Insertion (frameshift variant)	Mismatch repair cancer syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 856670	NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)	MSH2 (Y497C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 820600	NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)	MSH2 (A623T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 666004	NM_000251.3(MSH2):c.242G>A (p.Ser81Asn)	MSH2 (S15N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 491780	NM_000251.3(MSH2):c.1661+11C>T	MSH2	Single nucleotide variant (intron variant)	Muir-Torré syndrome +5 more	GLikely benign
Select item 485836	NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)	MSH2 (M485T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 483664	NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)	MSH2 (S554N +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 480911	NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)	MSH2 (N331S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 455532	NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)	MSH2 (R631K +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 455484	NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)	MSH2 (E452K +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 254090	NM_000251.2(MSH2):c.-125_1076+?del	MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 233001	NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)	MSH2 (S494P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 229770	NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)	MSH2 (T754S +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 220157	NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)	MSH2 (Q170E +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 216352	NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)	MSH2 (T754A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 185668	NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)	MSH2 (G25C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 184792	NM_000251.3(MSH2):c.-181G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182583	NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	MSH2 (A189G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	not provided +8 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)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 134846	NM_000251.3(MSH2):c.220A>C (p.Asn74His)	MSH2 (N74H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 127648	NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)	MSH2 (G204R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 91271	NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)	MSH2 (N331D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GUncertain significance
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 91154	NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	MSH2 (Q215* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91115	NM_000251.3(MSH2):c.505A>G (p.Ile169Val)	MSH2 (I169V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 91050	NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)	MSH2 (L94del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GBenign
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 90849	NM_000251.3(MSH2):c.2006-5T>A	MSH2	Single nucleotide variant (intron variant)	Mismatch repair cancer syndrome 2	GPathogenic
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 90812	NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)	MSH2 (Q629R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90750	NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)	MSH2 (T564A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90744	NM_000251.3(MSH2):c.1680T>C (p.Asn560=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GLikely benign
Select item 90727	NM_000251.3(MSH2):c.1662-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 90720	NM_000251.3(MSH2):c.1661+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
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 90643	NM_000251.3(MSH2):c.1386+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90592	NM_000251.3(MSH2):c.1276+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 90583	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)	MSH2 (Q419K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 90557	NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	MSH2 (R389* +1 more)	Single nucleotide variant (nonsense)	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 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36568	NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 36566	NM_000251.3(MSH2):c.1511-9A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 1768	NM_000251.3(MSH2):c.454del (p.Met152fs)	MSH2 (M86fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic

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Items: 47