"Baylor Genetics"[submitter] AND "WDR45"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41912	NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)	WDR45 (R234* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +8 more	GPathogenic
Select item 280097	NM_001029896.2(WDR45):c.584_585del (p.Ile195fs)	WDR45 (I195fs +1 more)	Deletion (frameshift 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 689799	NM_001029896.2(WDR45):c.342-2A>C	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 1030190	NM_001029896.2(WDR45):c.235+5G>A	LOC126863256, WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GConflicting classifications of pathogenicity
Select item 848898	NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)	LOC126863256, WDR45 (N61K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 218903	NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del)	LOC126863256, WDR45 (V54del)	Microsatellite (inframe_deletion)	Neurodegeneration with brain iron accumulation 5 +1 more	GConflicting classifications of pathogenicity
Select item 560932	NM_001029896.2(WDR45):c.131-11_145del	LOC126863256, WDR45	Deletion (splice acceptor variant)	X-linked cerebral-cerebellar-coloboma syndrome syndrome	GPathogenic