C3550973[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41911	NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)	WDR45 (Y335fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5 +2 more	GPathogenic
Select item 2444398	NM_001029896.2(WDR45):c.892del (p.Ala298fs)	WDR45 (A298fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 976312	NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)	WDR45 (Q289* +1 more)	Single nucleotide variant (nonsense)	Neurodegeneration with brain iron accumulation 5	GPathogenic
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 2572404	NM_001029896.2(WDR45):c.773_787del (p.Lys258_His262del)	WDR45	Deletion (inframe_deletion)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 1320133	NM_001029896.2(WDR45):c.604del (p.Gln202fs)	WDR45 (Q202fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GPathogenic
Select item 2444042	NM_001029896.2(WDR45):c.437-2A>T	WDR45	Single nucleotide variant (splice acceptor variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 976755	NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs)	WDR45 (Y124fs +1 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GPathogenic
Select item 280098	NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)	LOC126863256, WDR45 (R7*)	Single nucleotide variant (nonsense)	Global developmental delay +4 more	GPathogenic