"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872755	NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	ARX	Deletion (nonsense)	not provided +2 more	GPathogenic
Select item 986995	NM_139058.3(ARX):c.1256_1260del (p.Phe419fs)	ARX (F419fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 96455	NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	ARX, LOC109610631	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +5 more	GPathogenic

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