"Clinical Genetics, Academic Medical Center"[submitter] AND "ZNF454"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284878	NM_000843.4(GRM6):c.2607G>A (p.Lys869=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166150	NM_000843.4(GRM6):c.2124+9G>A	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99641	NM_000843.4(GRM6):c.2092C>G (p.Leu698Val)	GRM6, ZNF454 (L698V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 966363	NM_000843.4(GRM6):c.2054C>T (p.Ser685Leu)	GRM6, ZNF454 (S685L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284784	NM_000843.4(GRM6):c.2000C>T (p.Ala667Val)	GRM6, ZNF454 (A667V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 93439	NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 522285	NM_000843.4(GRM6):c.1533C>T (p.His511=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1B +1 more	GBenign
Select item 198107	NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)	GRM6, ZNF454 (T436I)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1B +2 more	GBenign/Likely benign

ClinVar