C2936783[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90675	NM_000251.3(MSH2):c.146A>T (p.Asp49Val)	MSH2 (D49V)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +5 more	GUncertain significance
Select item 91041	NM_000251.3(MSH2):c.274C>G (p.Leu92Val)	MSH2 (L92V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 91136	NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)	MSH2	Deletion (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 1767288	NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)	MSH2 (E268* +6 more)	Single nucleotide variant (nonsense)	Lynch syndrome 1 +1 more	GPathogenic
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 90745	NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	MSH2 (E561K +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 183719	NM_000251.3(MSH2):c.2006-4G>A	MSH2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 234622	NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)	MSH6 (Y969C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 930948	NM_000534.5(PMS1):c.440G>A (p.Arg147Lys)	PMS1 (R86K +1 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GUncertain significance
Select item 90116	NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)	MLH1 (T82A)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 9234	NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	PMS2 (R134* +2 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 142650	NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)	PMS2 (Q30*)	Single nucleotide variant (nonsense +3 more)	not provided +7 more	GPathogenic