C2936783[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Sarcoma +8 more	GConflicting classifications of pathogenicity
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 90953	NM_000251.3(MSH2):c.229_230del (p.Ser77fs)	MSH2 (S11fs +1 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +9 more	GConflicting classifications of pathogenicity
Select item 565544	NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	MSH2 (V161A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 91219	NM_000251.3(MSH2):c.795del (p.Ala266fs)	MSH2 (A200fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 801683	NM_000251.3(MSH2):c.942+22_942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 439908	NM_000251.3(MSH2):c.942+27_942+29del	MSH2	Deletion (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 374958	NM_000251.3(MSH2):c.942+29del	MSH2	Deletion (intron variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 252474	NM_000251.3(MSH2):c.942+25_942+29del	MSH2	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91273	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2 (C333Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 90574	NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)	MSH2 (Y408C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 492702	NM_000251.3(MSH2):c.1386+23T>G	MSH2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 566832	NM_000251.3(MSH2):c.1759+1G>T	MSH2	Single nucleotide variant (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 976425	NM_000251.3(MSH2):c.2367del (p.Leu790fs)	MSH2 (L724fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 983053	NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys)	MSH2 (Y749C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 90981	NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)	MSH2	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 428495	NM_000251.3(MSH2):c.2562del (p.Gln855fs)	MSH2 (Q789fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 237391	NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)	MSH2 (M899I +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 36581	NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	MSH6 (G39E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89947	NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)	MLH1 (N64S)	Single nucleotide variant (missense variant +2 more)	Muir-Torré syndrome +9 more	GConflicting classifications of pathogenicity
Select item 29654	NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	MLH1 (R265C +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 89753	NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	MLH1 (R399fs +5 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91330	NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	PMS2 (L538fs +7 more)	Microsatellite (frameshift variant +1 more)	Lynch syndrome	GUncertain significance
Select item 41705	NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	PMS2 (R563L +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 41713	NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	PMS2 (I18V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely benign
Select item 91323	NM_000535.7(PMS2):c.1A>G (p.Met1Val)	PMS2 (M1V)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome 1	GLikely pathogenic
Select item 1299337	NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del	MSH2	Deletion	Lynch syndrome 1	GPathogenic

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Items: 35