"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96453	NM_139058.3(ARX):c.1671G>A (p.Thr557=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +4 more	GConflicting classifications of pathogenicity
Select item 473007	NM_139058.3(ARX):c.1515A>G (p.Thr505=)	ARX	Single nucleotide variant (synonymous variant)	ARX-related condition +4 more	GLikely benign
Select item 157743	NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)	ARX	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +4 more	GBenign/Likely benign
Select item 136421	NM_139058.3(ARX):c.1074-3T>C	ARX	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign
Select item 156672	NM_139058.3(ARX):c.802G>T (p.Val268Leu)	ARX (V268L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 512275	NM_139058.3(ARX):c.596C>G (p.Thr199Arg)	ARX (T199R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GConflicting classifications of pathogenicity
Select item 379128	NM_139058.3(ARX):c.558G>T (p.Pro186=)	ARX	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign

ClinVar