"ITMI"[submitter] AND "MSH2"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134840	NM_000251.3(MSH2):c.5C>T (p.Ala2Val)	MSH2 (A2V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 134841	NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)	MSH2 (A70T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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)	not specified +7 more	GConflicting classifications of pathogenicity
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 1762	NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	MSH2 (G322D +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 41641	NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)	MSH2 (L390F +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
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 127632	NM_000251.3(MSH2):c.1601G>A (p.Arg534His)	MSH2 (R534H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 134842	NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)	MSH2 (I544T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 134843	NM_000251.3(MSH2):c.1662C>T (p.Ser554=)	MSH2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 134844	NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)	MSH2 (A600S +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +3 more	GConflicting classifications of pathogenicity
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 41648	NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)	MSH2 (E809K +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 134845	NM_000251.3(MSH2):c.2545C>G (p.Leu849Val)	MSH2 (L849V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 135565	NC_000002.12:g.47512385C>T	KCNK12, MSH2	Single nucleotide variant (genic downstream transcript variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 135566	NC_000002.12:g.47512394G>A	KCNK12, MSH2	Single nucleotide variant (genic downstream transcript variant)	not specified	Gnot provided
Select item 41867	NC_000002.12:g.47512412A>G	KCNK12, MSH2	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 135568	NC_000002.12:g.47678251C>G	MSH2	Single nucleotide variant	not specified	Gnot provided
Select item 135567	NC_000002.12:g.47678251C>A	MSH2	Single nucleotide variant	not specified	Gnot provided
Select item 135569	NC_000002.12:g.47678259C>A	MSH2	Single nucleotide variant	not specified	Gnot provided

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Items: 22