C2751308[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191009	NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)	PDE6C (R238*)	Single nucleotide variant (nonsense)	Cone dystrophy 4 +1 more	GPathogenic/Likely pathogenic
Select item 487691	NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter)	PDE6C (R259*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2572553	NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)	PDE6C (E446*)	Single nucleotide variant (nonsense)	Cone dystrophy 4	GPathogenic/Likely pathogenic
Select item 1687312	NM_006204.4(PDE6C):c.2283+1G>T	PDE6C	Single nucleotide variant (splice donor variant)	Cone dystrophy 4	GPathogenic
Select item 8766	NM_006204.4(PDE6C):c.2367+1_2367+5del	PDE6C	Deletion (splice donor variant)	Cone dystrophy 4 +1 more	GPathogenic/Likely pathogenic
Select item 1333333	NM_006204.4(PDE6C):c.2424C>G (p.Asn808Lys)	PDE6C (N808K)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +1 more	GUncertain significance

ClinVar