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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IREB2
(S218N +2 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GUncertain significance
IREB2
(R43Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GUncertain significance
IREB2
Single nucleotide variant
(intron variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GBenign
IREB2
Single nucleotide variant
(synonymous variant)
IREB2-related disorder
+2 more
GBenign
IREB2
Single nucleotide variant
(intron variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
+1 more
GBenign
IREB2
(I330T +2 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
+1 more
GBenign
IREB2
Single nucleotide variant
(intron variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
+1 more
GBenign
IREB2
Single nucleotide variant
(intron variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GBenign
IREB2
(S194del +2 more)
Deletion
(inframe_deletion)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GUncertain significance
IREB2
(G785R +2 more)
Single nucleotide variant
(missense variant)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GUncertain significance
IREB2
(G357* +2 more)
Single nucleotide variant
(nonsense +1 more)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GLikely pathogenic
IREB2
(R419* +2 more)
Single nucleotide variant
(nonsense)
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
GLikely pathogenic
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