RORA[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2307580	NM_134261.3(RORA):c.184A>T (p.Lys62Ter)	RORA (K62*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2602486	NM_134261.3(RORA):c.179C>T (p.Thr60Met)	RORA (T60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1098628	NM_134261.3(RORA):c.167-69528A>G	RORA	Single nucleotide variant (intron variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 1701625	NM_134261.3(RORA):c.167-186181C>T	RORA	Single nucleotide variant (intron variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2645397	NM_134261.3(RORA):c.166+191459C>T	RORA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1696665	NM_134261.3(RORA):c.166+91672A>G	RORA	Single nucleotide variant (intron variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2572897	NM_134261.3(RORA):c.166+3A>G	RORA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2430418	NM_134261.3(RORA):c.147C>G (p.Ser49Arg)	RORA (S49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031121	NM_134261.3(RORA):c.140G>C (p.Arg47Thr)	RORA (R47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878520	NM_134261.3(RORA):c.133G>A (p.Val45Met)	RORA (V45M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 1298626	NM_134261.3(RORA):c.132G>C (p.Pro44=)	RORA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310465	NM_134261.3(RORA):c.130C>G (p.Pro44Ala)	RORA (P44A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298627	NM_134261.3(RORA):c.90G>A (p.Pro30=)	RORA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2393562	NM_134261.3(RORA):c.82G>A (p.Glu28Lys)	RORA (E28K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155740	NM_134261.3(RORA):c.68C>A (p.Ala23Asp)	RORA (A23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234605	NM_134261.3(RORA):c.66G>A (p.Ala22=)	RORA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445967	NM_134261.3(RORA):c.57C>A (p.Gly19=)	RORA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1696456	NM_134261.3(RORA):c.32C>T (p.Ala11Val)	RORA (A11V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2574191	NM_134261.3(RORA):c.22C>A (p.Pro8Thr)	RORA (P8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155738	NM_134261.3(RORA):c.20C>T (p.Ala7Val)	RORA (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
Select item 638529	NM_134261.3(RORA):c.17C>T (p.Ala6Val)	RORA (A6V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 812183	15q22.2deletion	RORA	Deletion	15q22.2 deletion syndrome	GLikely pathogenic
Select item 1676501	NM_134261.3(RORA):c.284G>A (p.Gly95Asp)	RORA (G120D +3 more)	Single nucleotide variant	not provided	GUncertain significance

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Items: 25