"Génétique des Maladies du Développement, Hospices Civils de Lyon"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 212592	NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	WDR45 (R134* +1 more)	Single nucleotide variant (nonsense)	X-linked cerebral-cerebellar-coloboma syndrome syndrome +2 more	GPathogenic/Likely pathogenic
Select item 813807	NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro)	LOC126863256, WDR45 (L62P)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 977628	NM_001029896.2(WDR45):c.81_82del (p.Gly28fs)	LOC126863256, WDR45 (G28fs)	Deletion (frameshift variant)	Global developmental delay	GPathogenic
Select item 280098	NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)	LOC126863256, WDR45 (R7*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 620005	NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)	LOC126863256, WDR45 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar