C1834877[trait identifier] AND "GeneReviews"[submitter] - 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 65493	NM_005413.4(SIX3):c.219C>T (p.Pro73=)	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)	not provided +3 more	GBenign
Select item 6093	NM_005413.4(SIX3):c.676C>G (p.Leu226Val)	SIX3 (L226V)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GPathogenic
Select item 65501	NM_005413.4(SIX3):c.696_705del (p.Asn232fs)	SIX3 (N232fs)	Deletion (frameshift variant)	Holoprosencephaly 2	GPathogenic
Select item 6095	NM_005413.4(SIX3):c.749T>C (p.Val250Ala)	SIX3 (V250A)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GPathogenic
Select item 6094	NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)	SIX3 (R257P)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GLikely pathogenic
Select item 65506	SIX3:c.942G>A		Single nucleotide variant	Holoprosencephaly 2	GBenign

ClinVar