C2936783[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827377	NM_000251.3(MSH2):c.79C>T (p.Pro27Ser)	MSH2 (P27S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 3065347	NM_000251.3(MSH2):c.211G>A (p.Gly71Arg)	MSH2 (D71N +2 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 2820975	NM_000251.3(MSH2):c.572T>C (p.Leu191Pro)	MSH2 (L125P +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 1 +1 more	GUncertain significance
Select item 695772	NM_000251.3(MSH2):c.942+24_942+29del	MSH2	Deletion	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 36580	NM_000251.3(MSH2):c.942+3A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 90577	NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	MSH2 (Q343fs)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 3064831	NM_000251.3(MSH2):c.1418C>A (p.Ser473Ter)	MSH2 (S174* +8 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1	GUncertain significance
Select item 928308	NM_000251.3(MSH2):c.1964del (p.Val655fs)	MSH2 (V655fs +1 more)	Deletion (frameshift variant)	Lynch syndrome 1 +1 more	GConflicting classifications of pathogenicity
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 3065320	NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del)	MSH2	Deletion (inframe_deletion +1 more)	Lynch syndrome 1	GUncertain significance
Select item 89559	NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)	MSH6 (R240* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 90452	NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	MLH1 (E319K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +9 more	GConflicting classifications of pathogenicity