"Revvity Omics, Revvity"[submitter] AND "WDR45"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212596	NM_001029896.2(WDR45):c.966dup (p.Val323fs)	WDR45 (V324fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic/Likely pathogenic
Select item 1325358	NM_001029896.2(WDR45):c.828-2A>C	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 803997	NM_001029896.2(WDR45):c.827+1G>T	WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic/Likely pathogenic
Select item 265508	NM_001029896.2(WDR45):c.827+1G>A	WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GPathogenic
Select item 2690448	NM_001029896.2(WDR45):c.364C>G (p.Arg122Gly)	WDR45 (R122G +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 2434636	NM_001029896.2(WDR45):c.130+1G>T	LOC126863256, WDR45	Single nucleotide variant (splice donor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic

ClinVar