"Blueprint Genetics"[submitter] AND "ZNF454"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866961	NM_000843.4(GRM6):c.2624C>A (p.Ala875Asp)	GRM6, ZNF454 (A875D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866338	NM_000843.4(GRM6):c.2240C>G (p.Ser747Trp)	GRM6, ZNF454 (S747W)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 5840	NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)	GRM6, ZNF454 (R621*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 225382	NM_000843.4(GRM6):c.1537G>A (p.Val513Met)	GRM6, ZNF454 (V513M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866780	NM_000843.4(GRM6):c.1405C>T (p.Arg469Trp)	GRM6, ZNF454 (R469W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866581	NM_000843.4(GRM6):c.1205_1229del (p.Gln402fs)	ZNF454, GRM6 (Q402fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic

ClinVar