"SIB Swiss Institute of Bioinformatics"[submitter] AND "IREB2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633461	NM_004136.4(IREB2):c.1069G>T (p.Gly357Ter)	IREB2 (G357* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	GLikely pathogenic
Select item 633460	NM_004136.4(IREB2):c.1255C>T (p.Arg419Ter)	IREB2 (R419* +2 more)	Single nucleotide variant (nonsense)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	GLikely pathogenic