"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1174647	NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup)	IRF2BPL	Insertion (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 1328204	NM_024496.4(IRF2BPL):c.462CGC[11] (p.Ala163_Ala164dup)	IRF2BPL	Microsatellite (inframe_insertion)	IRF2BPL-related disorder +1 more	GBenign/Likely benign
Select item 1299890	NM_024496.4(IRF2BPL):c.462CGC[6] (p.Ala162_Ala164del)	IRF2BPL	Microsatellite (inframe_deletion)	not specified +1 more	GBenign/Likely benign
Select item 1174972	NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del)	IRF2BPL (A164del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign
Select item 1175173	NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs)	IRF2BPL (Q113fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	GLikely benign

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