"Centre for Inherited Metabolic Diseases, Karolinska University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2412814	NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)	ARHGEF9 (W162* +7 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 8	GLikely pathogenic
Select item 2501685	NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)	ARHGEF9 (A105fs +6 more)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 8	GLikely pathogenic