ClinVar for Gene (Select 6095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381688	NM_134261.3(RORA):c.43C>G (p.Pro15Ala)	RORA (P15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377945	NM_134261.3(RORA):c.1486C>G (p.Pro496Ala)	RORA, RORA-AS1 (P441A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377903	NM_134261.3(RORA):c.416C>G (p.Ser139Cys)	RORA, RORA-AS1 (S139C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376139	NM_134261.3(RORA):c.1151A>G (p.Lys384Arg)	RORA, RORA-AS1 (K329R +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 3375957	NM_134261.3(RORA):c.437G>A (p.Gly146Asp)	RORA, RORA-AS1 (G146D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375530	NM_134261.3(RORA):c.196+51420G>A	RORA, RORA-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3373026	NM_134261.3(RORA):c.251A>C (p.His84Pro)	RORA, RORA-AS1 (H109P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3372839	NM_134261.3(RORA):c.573C>G (p.Asn191Lys)	RORA, RORA-AS1 (N136K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370230	NM_134261.3(RORA):c.127G>A (p.Ala43Thr)	RORA (A43T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368426	NM_134261.3(RORA):c.1018C>T (p.Arg340Cys)	RORA, RORA-AS1 (R285C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367380	NM_134261.3(RORA):c.424+4A>C	RORA, RORA-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3365469	NM_134261.3(RORA):c.1549C>G (p.Pro517Ala)	RORA, RORA-AS1 (P462A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365271	NM_134261.3(RORA):c.370C>A (p.Arg124Ser)	RORA, RORA-AS1 (R124S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359018	NM_134261.3(RORA):c.731dup (p.Cys245fs)	RORA (C190fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GPathogenic
Select item 3346414	NM_134261.3(RORA):c.197-26463C>G	RORA, RORA-AS1	Single nucleotide variant (intron variant)	RORA-related disorder	GUncertain significance
Select item 3346327	NM_134261.3(RORA):c.823C>T (p.His275Tyr)	RORA, RORA-AS1 (H220Y +3 more)	Single nucleotide variant (missense variant)	RORA-related disorder	GUncertain significance
Select item 3342822	NM_134261.3(RORA):c.1013C>A (p.Ala338Asp)	RORA, RORA-AS1 (A283D +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3336359	NM_134261.3(RORA):c.799A>G (p.Thr267Ala)	RORA, RORA-AS1 (T212A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3315046	NM_134261.3(RORA):c.61G>A (p.Asp21Asn)	RORA (D21N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253371	NM_134261.3(RORA):c.419G>A (p.Arg140Gln)	RORA, RORA-AS1 (R140Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239418	NM_134261.3(RORA):c.196+63654C>T	RORA, RORA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3236194	NM_134261.3(RORA):c.851A>C (p.His284Pro)	RORA, RORA-AS1 (H229P +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 3236192	NM_134261.3(RORA):c.1345del (p.Ile449fs)	RORA, RORA-AS1 (I394fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 3235869	NM_134261.3(RORA):c.386G>C (p.Arg129Pro)	RORA, RORA-AS1 (R129P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235694	NM_134261.3(RORA):c.274G>A (p.Gly92Ser)	RORA, RORA-AS1 (G117S +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 3234605	NM_134261.3(RORA):c.66G>A (p.Ala22=)	RORA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234206	NM_134261.3(RORA):c.196+63756G>A	RORA, RORA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3234024	NM_134261.3(RORA):c.1571A>T (p.Ter524Leu)	RORA, RORA-AS1	Single nucleotide variant (stop lost)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 3233699	NM_134261.3(RORA):c.497AGC[5] (p.Gln169_Arg170insGln)	RORA, RORA-AS1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
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 3155740	NM_134261.3(RORA):c.68C>A (p.Ala23Asp)	RORA (A23D)	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 3155738	NM_134261.3(RORA):c.20C>T (p.Ala7Val)	RORA (A7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3066132	NM_134261.3(RORA):c.974_975delinsAA (p.Ile325Lys)	RORA, RORA-AS1 (I270K +3 more)	Indel (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 3055059	NM_134261.3(RORA):c.197-26447T>A	RORA, RORA-AS1 (L49H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3051953	NM_134261.3(RORA):c.197-25064A>G	RORA, RORA-AS1 (Q78R)	Single nucleotide variant (missense variant +1 more)	RORA-related disorder	GLikely benign
Select item 3047218	NM_134261.3(RORA):c.1014C>A (p.Ala338=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	RORA-related disorder	GLikely benign
Select item 3043817	NM_134261.3(RORA):c.466T>C (p.Leu156=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	RORA-related disorder	GLikely benign
Select item 3024237	NM_134261.3(RORA):c.499C>T (p.Gln167Ter)	RORA, RORA-AS1 (Q112* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GPathogenic
Select item 2687487	NM_134261.3(RORA):c.440G>A (p.Arg147Gln)	RORA, RORA-AS1 (R147Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2685518	GRCh37/hg19 15q22.2(chr15:60688155-60888244)x1	ICE2, ANXA2 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2672163	NM_134261.3(RORA):c.698_719dup (p.Lys240_Pro241insSerTer)	RORA, RORA-AS1	Duplication (nonsense +1 more)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 2664777	NM_134261.3(RORA):c.409G>A (p.Gly137Arg)	RORA, RORA-AS1 (G137R +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2663181	NM_134261.3(RORA):c.506A>T (p.Gln169Leu)	RORA, RORA-AS1 (Q114L +3 more)	Single nucleotide variant (missense variant)	not provided	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 2645396	NM_134261.3(RORA):c.196+51362G>A	RORA, RORA-AS1 (R27Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2645395	NM_134261.3(RORA):c.197-26462G>A	RORA, RORA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645394	NM_134261.3(RORA):c.197-26453A>G	RORA, RORA-AS1 (D47G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2645393	NM_134261.3(RORA):c.283-8T>C	RORA, RORA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645392	NM_134261.3(RORA):c.573C>T (p.Asn191=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645391	NM_134261.3(RORA):c.616G>A (p.Gly206Arg)	RORA, RORA-AS1 (G151R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645390	NM_134261.3(RORA):c.651C>T (p.Ala217=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645389	NM_134261.3(RORA):c.750A>G (p.Ala250=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645388	NM_134261.3(RORA):c.774G>A (p.Ser258=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645387	NM_134261.3(RORA):c.1134C>T (p.Thr378=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2584975	NM_134261.3(RORA):c.842C>T (p.Ser281Phe)	RORA-AS1, RORA (S226F +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2582544	NM_134261.3(RORA):c.196+51284T>A	RORA, RORA-AS1 (M1K)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 2581972	NM_134261.3(RORA):c.1087G>C (p.Val363Leu)	RORA, RORA-AS1 (V308L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578526	NM_134261.3(RORA):c.505C>T (p.Gln169Ter)	RORA, RORA-AS1 (Q114* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GPathogenic
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 2574191	NM_134261.3(RORA):c.22C>A (p.Pro8Thr)	RORA (P8T)	Single nucleotide variant (missense variant)	not provided	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 2572286	NM_134261.3(RORA):c.424+1G>A	RORA, RORA-AS1	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GPathogenic
Select item 2505975	NM_134261.3(RORA):c.443T>C (p.Met148Thr)	RORA, RORA-AS1 (M148T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501285	NM_134261.3(RORA):c.1304G>A (p.Trp435Ter)	RORA, RORA-AS1 (W380* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
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 2445967	NM_134261.3(RORA):c.57C>A (p.Gly19=)	RORA	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2445966	NM_134261.3(RORA):c.196+51339G>A	RORA, RORA-AS1 (W19*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2442497	NM_134261.3(RORA):c.1382A>G (p.His461Arg)	RORA, RORA-AS1 (H406R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442252	NM_134261.3(RORA):c.1069A>T (p.Lys357Ter)	RORA, RORA-AS1 (K302* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GPathogenic
Select item 2442153	NM_134261.3(RORA):c.1251A>C (p.Glu417Asp)	RORA, RORA-AS1 (E362D +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	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 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 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 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 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 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 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 2430758	NM_134261.3(RORA):c.451A>C (p.Lys151Gln)	RORA-AS1, RORA (K151Q +3 more)	Single nucleotide variant (missense 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 2429099	NM_134261.3(RORA):c.203T>A (p.Ile68Asn)	RORA, RORA-AS1 (I101N +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 2428808	NM_134261.3(RORA):c.788A>G (p.Glu263Gly)	RORA, RORA-AS1 (E208G +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 2307580	NM_134261.3(RORA):c.184A>T (p.Lys62Ter)	RORA (K62*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 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 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 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 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

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