"Ambry Genetics"[submitter] AND "RORA"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315049	NM_134261.3(RORA):c.1399C>G (p.Leu467Val)	RORA, RORA-AS1 (L492V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315047	NM_134261.3(RORA):c.1383C>A (p.His461Gln)	RORA, RORA-AS1 (H406Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206512	NM_134261.3(RORA):c.1345A>G (p.Ile449Val)	RORA, RORA-AS1 (I394V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304091	NM_134261.3(RORA):c.1268_1291delinsAT (p.Phe423fs)	RORA, RORA-AS1 (F423fs +3 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3155736	NM_134261.3(RORA):c.1109G>A (p.Arg370His)	RORA, RORA-AS1 (R370H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985754	NM_134261.3(RORA):c.1016A>C (p.Lys339Thr)	RORA, RORA-AS1 (K284T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985819	NM_134261.3(RORA):c.983C>G (p.Thr328Arg)	RORA, RORA-AS1 (T273R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2377220	NM_134261.3(RORA):c.770G>C (p.Cys257Ser)	RORA, RORA-AS1 (C290S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293103	NM_134261.3(RORA):c.700C>A (p.Leu234Ile)	RORA, RORA-AS1 (L234I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575856	NM_134261.3(RORA):c.631G>A (p.Gly211Arg)	RORA-AS1, RORA (G156R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2365006	NM_134261.3(RORA):c.516C>G (p.His172Gln)	RORA, RORA-AS1 (H172Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493746	NM_134261.3(RORA):c.491G>A (p.Arg164Gln)	RORA, RORA-AS1 (R189Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155739	NM_134261.3(RORA):c.197-25050C>G	RORA, RORA-AS1 (P83A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373683	NM_134261.3(RORA):c.197-26379G>A	RORA, RORA-AS1 (V72I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2384804	NM_134261.3(RORA):c.197-26403G>T	RORA, RORA-AS1 (G64C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2273870	NM_134261.3(RORA):c.197-26458C>T	RORA, RORA-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2232668	NM_134261.3(RORA):c.196+51412G>T	RORA, RORA-AS1 (A44S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3155741	NM_134261.3(RORA):c.196+51380T>C	RORA, RORA-AS1 (M33T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349457	NM_134261.3(RORA):c.196+51356G>T	RORA, RORA-AS1 (C25F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1705045	NM_134261.3(RORA):c.196+51343A>G	RORA, RORA-AS1 (I21V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 3315046	NM_134261.3(RORA):c.61G>A (p.Asp21Asn)	RORA (D21N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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Items: 27