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

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435461	NM_134261.3(RORA):c.1560A>C (p.Gln520His)	RORA, RORA-AS1 (Q465H +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2435462	NM_134261.3(RORA):c.1165G>A (p.Asp389Asn)	RORA, RORA-AS1 (D334N +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2435459	NM_134261.3(RORA):c.613G>A (p.Asp205Asn)	RORA-AS1, RORA (D150N +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2435457	NM_134261.3(RORA):c.592G>A (p.Asp198Asn)	RORA, RORA-AS1 (D143N +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2435458	NM_134261.3(RORA):c.509G>A (p.Arg170His)	RORA, RORA-AS1 (R115H +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia +1 more	GUncertain significance
Select item 2435463	NM_134261.3(RORA):c.56G>C (p.Gly19Ala)	RORA (G19A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2435460	NM_134261.3(RORA):c.19G>T (p.Ala7Ser)	RORA (A7S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance