"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284940	NM_024496.4(IRF2BPL):c.2203A>T (p.Ser735Cys)	IRF2BPL (S735C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328052	NM_024496.4(IRF2BPL):c.636C>T (p.Asn212=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174647	NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup)	IRF2BPL	Insertion (inframe_insertion)	not provided	GBenign
Select item 1174972	NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del)	IRF2BPL (A164del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1285034	NM_024496.4(IRF2BPL):c.387C>T (p.Asn129=)	IRF2BPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

ClinVar