C1333991[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801695	NM_000249.4(MLH1):c.134_136del (p.Thr45del)	MLH1 (T45del)	Deletion (inframe_deletion +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely pathogenic
Select item 90112	NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	MLH1 (C77Y)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 2583151	NM_000249.4(MLH1):c.275_278del (p.Ala92fs)	MLH1 (A92fs)	Deletion (5 prime UTR variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2	GLikely pathogenic
Select item 90374	NM_000249.4(MLH1):c.791-5T>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 89672	NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)	MLH1 (Q391* +5 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89959	NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)	MLH1 (P654L +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90014	NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	MLH1 (R687W +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic

ClinVar