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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRF2BPL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
IRF2BPL
(Q113fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
GLikely benign
IRF2BPL
(Q127del)
Deletion
(inframe_deletion)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
+1 more
GBenign
IRF2BPL, LOC107984638
Deletion
(inframe_deletion)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
+1 more
GUncertain significance
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