"RORA-AS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 138

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 1804298	NM_134261.3(RORA):c.1571_*29del (p.Ter524SerextTer?)	RORA, RORA-AS1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 559568	NM_134261.3(RORA):c.1498C>T (p.Arg500Ter)	RORA, RORA-AS1 (R500* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 982776	NM_134261.3(RORA):c.1447C>T (p.Arg483Ter)	RORA, RORA-AS1 (R428* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1327966	NM_134261.3(RORA):c.1428C>A (p.Thr476=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 776893	NM_134261.3(RORA):c.1428= (p.Thr476=)	RORA, RORA-AS1	Variation (no sequence alteration)	not provided	GBenign
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 1310499	NM_134261.3(RORA):c.1397T>C (p.Ile466Thr)	RORA, RORA-AS1 (I411T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675578	NM_134261.3(RORA):c.1395A>T (p.Gly465=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 549842	NM_134261.3(RORA):c.1385G>A (p.Arg462Gln)	RORA, RORA-AS1 (R462Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691814	NM_134261.3(RORA):c.1384C>T (p.Arg462Ter)	RORA, RORA-AS1 (R407* +3 more)	Single nucleotide variant	not provided	GPathogenic
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 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 978160	NM_134261.3(RORA):c.1365C>A (p.His455Gln)	RORA, RORA-AS1 (H400Q +3 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1321271	NM_134261.3(RORA):c.1355C>T (p.Ala452Val)	RORA, RORA-AS1 (A397V +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely benign
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 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 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 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 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 1031120	NM_134261.3(RORA):c.1210T>C (p.Phe404Leu)	RORA, RORA-AS1 (F349L +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 1696694	NM_134261.3(RORA):c.1183+8G>T	RORA, RORA-AS1	Single nucleotide variant (intron 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 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 2645387	NM_134261.3(RORA):c.1134C>T (p.Thr378=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1694753	NM_134261.3(RORA):c.1096A>G (p.Ile366Val)	RORA, RORA-AS1 (I311V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992354	NM_134261.3(RORA):c.1092_1095dup (p.Ile366fs)	RORA, RORA-AS1 (I311fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 1310282	NM_134261.3(RORA):c.1072G>A (p.Ala358Thr)	RORA, RORA-AS1 (A303T +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 1810617	NM_134261.3(RORA):c.1022T>C (p.Ile341Thr)	RORA, RORA-AS1 (I286T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374220	NM_134261.3(RORA):c.1019del (p.Arg340fs)	RORA, RORA-AS1 (R340fs +3 more)	Deletion (frameshift variant)	Severe intellectual deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 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 1685069	NM_134261.3(RORA):c.994C>A (p.Gln332Lys)	RORA, RORA-AS1 (Q277K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782594	NM_134261.3(RORA):c.987A>G (p.Glu329=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia +1 more	GBenign/Likely benign
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 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 1342581	NM_134261.3(RORA):c.932A>G (p.Tyr311Cys)	RORA, RORA-AS1 (Y256C +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 1709209	NM_134261.3(RORA):c.919G>C (p.Glu307Gln)	RORA, RORA-AS1 (E252Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 987229	NM_134261.3(RORA):c.919G>T (p.Glu307Ter)	RORA, RORA-AS1 (E252* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1064858	NM_134261.3(RORA):c.900G>A (p.Trp300Ter)	RORA, RORA-AS1 (W245* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 807672	NM_134261.3(RORA):c.867_876dup (p.Glu293fs)	RORA, RORA-AS1 (E293fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GPathogenic
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 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 1348546	NM_134261.3(RORA):c.842C>G (p.Ser281Cys)	RORA, RORA-AS1 (S314C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636257	NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG	RORA, RORA-AS1	Indel (splice acceptor variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
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 1251925	NM_134261.3(RORA):c.821-1G>C	RORA, RORA-AS1	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 549841	NM_134261.3(RORA):c.804_805del (p.Ser269fs)	RORA-AS1, RORA (S269fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 932229	NM_134261.3(RORA):c.802G>A (p.Val268Met)	RORA, RORA-AS1 (V293M +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia +1 more	GUncertain significance
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 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 776906	NM_134261.3(RORA):c.783C>T (p.Asn261=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1302482	NM_134261.3(RORA):c.773C>G (p.Ser258Trp)	RORA, RORA-AS1 (S203W +3 more)	Single nucleotide variant (missense variant)	not provided	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 2645389	NM_134261.3(RORA):c.750A>G (p.Ala250=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335184	NM_134261.3(RORA):c.746C>G (p.Pro249Arg)	RORA, RORA-AS1 (P194R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2645390	NM_134261.3(RORA):c.651C>T (p.Ala217=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770623	NM_134261.3(RORA):c.648C>T (p.Ser216=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1098413	NM_134261.3(RORA):c.626_627del (p.Pro209fs)	RORA, RORA-AS1 (P154fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
Select item 714655	NM_134261.3(RORA):c.615C>T (p.Asp205=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1297475	NM_134261.3(RORA):c.604A>G (p.Asn202Asp)	RORA, RORA-AS1 (N147D +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 1213741	NM_134261.3(RORA):c.591C>G (p.His197Gln)	RORA, RORA-AS1 (H142Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
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 2645392	NM_134261.3(RORA):c.573C>T (p.Asn191=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 1273579	NM_134261.3(RORA):c.504G>A (p.Gln168=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 1300412	NM_134261.3(RORA):c.439C>T (p.Arg147Ter)	RORA, RORA-AS1 (R147* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 3367380	NM_134261.3(RORA):c.424+4A>C	RORA, RORA-AS1	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 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 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

<< First< Prev

Page of 2