"CZECANCA consortium"[submitter] AND "MLH1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 89738	NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)	MLH1 (Q48*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 17094	NM_000249.4(MLH1):c.350C>T (p.Thr117Met)	MLH1 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 989413	NM_000249.4(MLH1):c.381-75_454-739delinsTAAATC	MLH1	Indel (splice acceptor variant +1 more)	Breast and/or ovarian cancer	GPathogenic
Select item 90318	NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	MLH1 (R226Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90356	NM_000249.4(MLH1):c.790+1G>A	MLH1	Single nucleotide variant (splice donor variant +1 more)	Lynch syndrome	GPathogenic
Select item 2430175	NM_000249.4(MLH1):c.1483dup (p.Thr495fs)	MLH1 (T137fs +5 more)	Duplication (frameshift variant)	Endometrial carcinoma	GPathogenic
Select item 89753	NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	MLH1 (R399fs +5 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 989412	NM_000249.4(MLH1):c.2103+1dup	MLH1	Duplication (splice donor variant +1 more)	Breast and/or ovarian cancer	GPathogenic

ClinVar