C0152200[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438084	NM_007348.4(ATF6):c.417dup (p.Asn140Ter)	ATF6 (N140*)	Duplication (nonsense)	Achromatopsia	GLikely pathogenic
Select item 438042	NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	CNGB3 (R604*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 5225	NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	CNGB3	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 374027	NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	CNGB3	Deletion (frameshift variant)	Achromatopsia 3 +5 more	GPathogenic
Select item 438111	NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu)	PDE6C (K199E)	Single nucleotide variant (missense variant)	Achromatopsia	GLikely pathogenic
Select item 438112	NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter)	PDE6C (E211*)	Single nucleotide variant (nonsense)	Achromatopsia	GLikely pathogenic
Select item 438113	NM_006204.4(PDE6C):c.864+1G>A	PDE6C	Single nucleotide variant (splice donor variant)	Cone dystrophy 4	GLikely pathogenic
Select item 438110	NM_006204.4(PDE6C):c.1847+3_1847+6del	PDE6C	Microsatellite (splice donor variant)	Achromatopsia	GLikely pathogenic

ClinVar