C1833477[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41596	NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)	MSH6 (S144I)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GBenign
Select item 89267	NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	MSH6 (R772W +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 234622	NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)	MSH6 (Y969C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 428296	NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)	MSH6 (S1180* +2 more)	Single nucleotide variant (nonsense)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic
Select item 89434	NM_000179.3(MSH6):c.3647-1G>A	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GPathogenic
Select item 433928	NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)	MSH6 (Q1314fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GPathogenic

ClinVar