"St. Jude Molecular Pathology, St. Jude Children's Research Hospital"[ - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 182561	NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)	MSH2 (P5L)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 650519	NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)	MSH2 (F19S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 408521	NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)	MSH2 (F58L)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 231690	NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)	MSH2 (S87Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 187103	NM_000251.3(MSH2):c.403C>G (p.Leu135Val)	MSH2 (L135V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 182580	NM_000251.3(MSH2):c.481G>A (p.Val161Ile)	MSH2 (V161I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 408546	NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)	MSH2 (Q239E +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135865	NM_000251.3(MSH2):c.835C>G (p.Leu279Val)	MSH2 (L279V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 140960	NM_000251.3(MSH2):c.894G>C (p.Gln298His)	MSH2 (Q298H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 188133	NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)	MSH2 (E357A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 232371	NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)	MSH2 (R382C +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 620607	NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn)	MSH2 (D386N +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +2 more	GConflicting classifications of pathogenicity
Select item 187607	NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln)	MSH2 (R389Q +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 141281	NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)	MSH2 (I454V +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 620635	NM_000251.3(MSH2):c.1511-13_1511-9delinsGT	MSH2	Indel (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 182563	NM_000251.3(MSH2):c.1530G>C (p.Gln510His)	MSH2 (Q510H +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 186484	NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)	MSH2 (L533V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GUncertain significance
Select item 183783	NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)	MSH2 (E569G +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 229675	NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)	MSH2 (N583I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 41646	NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	MSH2 (N596S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 183758	NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)	MSH2 (D597A +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 590849	NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs)	MSH2 (N653fs +1 more)	Deletion (frameshift variant)	Glioblastoma	GPathogenic
Select item 216348	NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)	MSH2 (G683V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182571	NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)	MSH2 (C707Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 408514	NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)	MSH2 (I774T +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141042	NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)	MSH2 (E852D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 91039	NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)	MSH2 (L911R +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity

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Items: 27