"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517597	NM_005982.4(SIX1):c.746C>A (p.Pro249Gln)	SIX1 (P249Q)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GBenign/Likely benign
Select item 229251	NM_005982.4(SIX1):c.487C>G (p.Leu163Val)	MIR9718, SIX1 (L163V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 666609	NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)	SIX1 (Y129S)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 3075842	NM_005982.4(SIX1):c.207C>T (p.Ile69=)	SIX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 227075	NM_005982.4(SIX1):c.162G>A (p.Ala54=)	SIX1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 517563	NM_005982.4(SIX1):c.114C>T (p.Pro38=)	SIX1	Single nucleotide variant (synonymous variant)	SIX1-related disorder +2 more	GLikely benign

ClinVar