"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ARX"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588454	NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)	ARX (L484F)	Single nucleotide variant (missense variant)	Partington syndrome +5 more	GUncertain significance
Select item 1164076	NM_139058.3(ARX):c.1406_1415del (p.Ala469fs)	ARX (A469fs)	Deletion (frameshift variant)	X-linked spasticity-intellectual disability-epilepsy syndrome	GPathogenic
Select item 234531	NM_139058.3(ARX):c.1170C>T (p.Gly390=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +6 more	GConflicting classifications of pathogenicity
Select item 1494703	NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	ARX (R332G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GPathogenic/Likely pathogenic
Select item 157762	NM_139058.3(ARX):c.807C>T (p.Ala269=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +6 more	GBenign/Likely benign
Select item 473008	NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 187818	NM_139058.3(ARX):c.260G>C (p.Arg87Pro)	ARX (R87P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +4 more	GUncertain significance
Select item 581240	NM_139058.3(ARX):c.187G>A (p.Ala63Thr)	ARX (A63T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity