"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65505	NM_005413.4(SIX3):c.90G>T (p.Ala30=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 6099	NM_005413.4(SIX3):c.339G>T (p.Trp113Cys)	SIX3 (W113C)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 586592	NM_005413.4(SIX3):c.348C>T (p.Pro116=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GBenign/Likely benign
Select item 193311	NM_005413.4(SIX3):c.525G>A (p.Gln175=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 65500	NM_005413.4(SIX3):c.576C>T (p.Arg192=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +3 more	GBenign
Select item 167690	NM_005413.4(SIX3):c.942A>G (p.Ala314=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

ClinVar