"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 9

	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 982620	NM_001029896.2(WDR45):c.982_984delinsTTG (p.Val328Leu)	WDR45 (V328L +1 more)	Indel (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely benign
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 1329904	NM_001029896.2(WDR45):c.828-3C>A	WDR45	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 5	GUncertain significance
Select item 265508	NM_001029896.2(WDR45):c.827+1G>A	WDR45	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 976172	NM_001029896.2(WDR45):c.787_800del (p.Ile263fs)	WDR45 (I263fs +1 more)	Deletion (frameshift variant)	Intellectual disability +1 more	GPathogenic
Select item 871501	NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer)	WDR45	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 2576564	NM_001029896.2(WDR45):c.498_499del (p.Cys166fs)	WDR45 (C166fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 976376	NM_001029896.2(WDR45):c.476T>C (p.Leu159Pro)	WDR45 (L159P +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic