C1333990[trait identifier] AND "GeneKor MSA"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89314	NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	MSH6 (R922* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89992	NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)	MLH1 (G67R)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 89705	NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)	MLH1 (G454R +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 89718	NM_000249.4(MLH1):c.1409+1G>A	MLH1	Single nucleotide variant (splice donor variant)	Lynch syndrome	GLikely pathogenic
Select item 17099	NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	MLH1 (A681T +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 127763	NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	PMS2 (S523T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 91299	NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	PMS2 (R421* +7 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 216072	NM_000535.7(PMS2):c.1239dup (p.Asp414fs)	PMS2 (D103fs +7 more)	Duplication (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer +5 more	GPathogenic
Select item 1705982	NG_007110.2:g.(?_47707835)_(47708005_?)dup	MSH2	Duplication	Hereditary nonpolyposis colon cancer	GPathogenic