C2936783[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 142464	NM_000251.3(MSH2):c.209C>T (p.Ala70Val)	MSH2 (A70V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 91105	NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	MSH2 (G162R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 91239	NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)	MSH2 (Q298* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90548	NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)	MSH2 (Q374* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90554	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2 (R383* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 142169	NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)	MSH2 (H424Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 90590	NM_000251.3(MSH2):c.1276+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GPathogenic
Select item 182602	NM_000251.3(MSH2):c.1276+11A>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 141147	NM_000251.3(MSH2):c.1697del (p.Asn566fs)	MSH2 (N500fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1 +2 more	GPathogenic
Select item 90766	NM_000251.3(MSH2):c.1759+1G>A	MSH2	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GLikely pathogenic
Select item 957906	NM_000251.3(MSH2):c.1993del (p.His665fs)	MSH2 (H665fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GPathogenic
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
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 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 17087	NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	MLH1 (R226* +2 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 520540	NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)	MLH1 (I276R +3 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1	GPathogenic