"Genome-Nilou Lab"[submitter] AND "IREB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1300039	NM_004136.4(IREB2):c.629+22A>C	IREB2	Single nucleotide variant (intron variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign
Select item 1300040	NM_004136.4(IREB2):c.883+19A>G	IREB2	Single nucleotide variant (intron variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign
Select item 1300041	NM_004136.4(IREB2):c.1739T>C (p.Ile580Thr)	IREB2 (I330T +2 more)	Single nucleotide variant (missense variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign
Select item 1300042	NM_004136.4(IREB2):c.2472+12A>C	IREB2	Single nucleotide variant (intron variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign
Select item 1300043	NM_004136.4(IREB2):c.2616C>T (p.Ala872=)	IREB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1300044	NM_004136.4(IREB2):c.2781+23T>C	IREB2	Single nucleotide variant (intron variant)	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +1 more	GBenign

ClinVar