"GeneReviews"[submitter] AND "SIX1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8310	NM_005982.4(SIX1):c.397_399del (p.Glu133del)	SIX1 (E133del)	Deletion (inframe_deletion)	Branchiootic syndrome 3 +2 more	GPathogenic/Likely pathogenic
Select item 8308	NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)	SIX1 (Y129C)	Single nucleotide variant (missense variant)	SIX1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 208361	NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)	SIX1 (E125K)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GLikely pathogenic
Select item 65697	NM_005982.4(SIX1):c.334C>T (p.Arg112Cys)	SIX1 (R112C)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	Gnot provided
Select item 8309	NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)	SIX1 (R110W)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +2 more	GPathogenic
Select item 65696	NM_005982.4(SIX1):c.317T>G (p.Val106Gly)	SIX1 (V106G)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	Gnot provided
Select item 65698	NM_005982.4(SIX1):c.50T>A (p.Val17Glu)	SIX1 (V17E)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	Gnot provided

ClinVar