ClinVar for MedGen (Select 902559) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 962282	NM_024741.3(ZNF408):c.925T>G (p.Leu309Val)	ZNF408 (L301V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958331	NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val)	ZNF408 (A643V +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 6 +2 more	GUncertain significance
Select item 931150	NM_024741.3(ZNF408):c.943C>T (p.Gln315Ter)	ZNF408 (Q307* +1 more)	Single nucleotide variant (nonsense)	Exudative vitreoretinopathy 6	GLikely pathogenic
Select item 861438	NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe)	ZNF408 (L153F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 204317	NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)	ZNF408 (R541C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 204315	NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn)	ZNF408 (S126N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 204314	NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr)	ZNF408 (H455Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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