"Revvity Omics, Revvity"[submitter] AND "ARX"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439216	NM_139058.3(ARX):c.1161G>C (p.Glu387Asp)	ARX (E387D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057574	NM_139058.3(ARX):c.821T>C (p.Val274Ala)	ARX (V274A)	Single nucleotide variant (missense variant)	ARX-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2439218	NM_139058.3(ARX):c.803T>G (p.Val268Gly)	ARX (V268G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439219	NM_139058.3(ARX):c.668C>A (p.Thr223Asn)	ARX (T223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190034	NM_139058.3(ARX):c.596C>A (p.Thr199Lys)	ARX (T199K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2688609	NM_139058.3(ARX):c.446C>T (p.Ala149Val)	ARX, LOC109610631 (A149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439214	NM_139058.3(ARX):c.376C>A (p.Pro126Thr)	ARX, LOC109610631 (P126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395940	NM_139058.3(ARX):c.373G>A (p.Ala125Thr)	ARX, LOC109610631 (A125T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GUncertain significance
Select item 473009	NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1641295	NM_139058.3(ARX):c.291T>C (p.Leu97=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2439217	NM_139058.3(ARX):c.34G>A (p.Glu12Lys)	ARX (E12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance