"CZECANCA consortium"[submitter] AND "MSH2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90683	NM_000251.3(MSH2):c.1500dup (p.Arg501fs)	MSH2 (R435fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90743	NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)	MSH2	Deletion (nonsense)	Lynch syndrome	GPathogenic
Select item 90761	NM_000251.3(MSH2):c.1720del (p.Gln574fs)	MSH2 (Q574fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 90800	NM_000251.3(MSH2):c.1853del (p.Pro618fs)	MSH2 (P618fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 187518	NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)	MSH2 (C697Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 2430176	NM_000251.2(MSH2):c.2459-2_2472del	MSH2	Deletion (genic downstream transcript variant)	Uterine corpus cancer	GLikely pathogenic

ClinVar