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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRF2BPL
(S735C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
IRF2BPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BPL
Insertion
(inframe_insertion)
IRF2BPL-related disorder
+1 more
GBenign/Likely benign
IRF2BPL
(A164del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GBenign
IRF2BPL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IRF2BPL
(Q113fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
GLikely benign
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