C3805604[trait identifier] AND "Wessex Regional Genetics Laboratory, S - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Congenital ocular coloboma +8 more	GConflicting classifications of pathogenicity
Select item 279862	NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	PAX6 (R261* +9 more)	Single nucleotide variant (nonsense +1 more)	PAX6-related disorders +9 more	GPathogenic
Select item 372441	NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	ELP4, PAX6 (R208W +9 more)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 3470	NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)	PAX6 (R128C +7 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 800413	NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)	PAX6 (G153R +5 more)	Single nucleotide variant (missense variant +3 more)	Foveal hypoplasia 1	GLikely pathogenic
Select item 637045	NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)	PAX6 (R38G +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar