"Pathway Genomics"[submitter] AND "MSH6"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36581	NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	MSH6 (G39E)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 89519	NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)	MSH6 (W142*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 89534	NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)	MSH6 (S156*)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 36582	NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	MSH6 (L396V +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 156507	NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)	MSH6 (F267fs +1 more)	Deletion (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic
Select item 135835	NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)	MSH6 (I795T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 192222	NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)	MSH6 (K1358E +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +3 more	GUncertain significance