"Human Genetics Bochum, Ruhr University Bochum"[submitter] AND "MSH2"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 428559	NM_000251.3(MSH2):c.211+1G>T	MSH2	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 91139	NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)	MSH2 (L191del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 91154	NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	MSH2 (Q215* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 525861	NM_000251.3(MSH2):c.788A>G (p.Asn263Ser)	MSH2 (N263S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 91258	NM_000251.3(MSH2):c.958dup (p.Thr320fs)	MSH2 (T320fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91273	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2 (C333Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 489908	NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)	MSH2 (P349S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 2583148	NM_000251.3(MSH2):c.1186del (p.Arg396fs)	MSH2 (R256fs +6 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90616	NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)	MSH2 (Q429* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic