C2936783[trait identifier] AND "Division of Medical Genetics, Universi - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127643	NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)	MSH2 (Y121C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 218048	NM_000251.3(MSH2):c.793-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic/Likely pathogenic
Select item 418314	NM_000251.3(MSH2):c.818T>C (p.Val273Ala)	MSH2 (V273A +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 231153	NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)	MSH2 (Q374R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 182594	NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)	MSH2 (Q397E +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +5 more	GConflicting classifications of pathogenicity
Select item 90745	NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	MSH2 (E561K +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 216348	NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)	MSH2 (G683V +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 91003	NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)	MSH2 (Y856C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity