Related gene-specific medical variations for Gene (Select 6095) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	RORA-related condition	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 condition	GLikely benign
Select item 3047218	NM_134261.3(RORA):c.1014C>A (p.Ala338=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	RORA-related condition	GLikely benign
Select item 3043817	NM_134261.3(RORA):c.466T>C (p.Leu156=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	RORA-related condition	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 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 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 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, RORA-AS1 (G156R +3 more)	Single nucleotide variant (missense 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 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 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 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-AS1, RORA (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)	Inborn genetic diseases +1 more	GLikely benign
Select item 2365006	NM_134261.3(RORA):c.516C>G (p.His172Gln)	RORA-AS1, RORA (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	GUncertain significance
Select item 2304091	NM_134261.3(RORA):c.1268_1291delinsAT (p.Phe423fs)	RORA-AS1, RORA (F423fs +3 more)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2293103	NM_134261.3(RORA):c.700C>A (p.Leu234Ile)	RORA-AS1, RORA (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-AS1, RORA (A44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206512	NM_134261.3(RORA):c.1345A>G (p.Ile449Val)	RORA-AS1, RORA (I394V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1804298	NM_134261.3(RORA):c.1571_*29del (p.Ter524SerextTer?)	RORA, RORA-AS1	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1709497	NM_134261.3(RORA):c.215C>T (p.Pro72Leu)	RORA, RORA-AS1 (P105L +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 1705045	NM_134261.3(RORA):c.196+51343A>G	RORA-AS1, RORA (I21V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 1691814	NM_134261.3(RORA):c.1384C>T (p.Arg462Ter)	RORA, RORA-AS1 (R407* +3 more)	Single nucleotide variant	not provided	GPathogenic
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 1677314	NM_134261.3(RORA):c.197-26447T>C	RORA, RORA-AS1 (L49P)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GUncertain significance
Select item 1676501	NM_134261.3(RORA):c.284G>A (p.Gly95Asp)	RORA (G120D +3 more)	Single nucleotide 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)	RORA-related condition +1 more	GLikely benign
Select item 1348546	NM_134261.3(RORA):c.842C>G (p.Ser281Cys)	RORA-AS1, RORA (S314C +3 more)	Single nucleotide variant (missense variant)	not provided	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 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 1327966	NM_134261.3(RORA):c.1428C>A (p.Thr476=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GBenign
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 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 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 1304790	NM_134261.3(RORA):c.230G>T (p.Gly77Val)	RORA, RORA-AS1 (G102V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1273579	NM_134261.3(RORA):c.504G>A (p.Gln168=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1254934	NM_134261.3(RORA):c.351_354del (p.Asp118fs)	RORA, RORA-AS1 (D118fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 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 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 1098413	NM_134261.3(RORA):c.626_627del (p.Pro209fs)	RORA, RORA-AS1 (P154fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
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 1031122	NM_134261.3(RORA):c.197-11T>C	RORA, RORA-AS1	Single nucleotide variant (intron 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 992741	NM_134261.3(RORA):c.196+51382_196+51385del	RORA, RORA-AS1 (S34fs)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely benign
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 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 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 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 982776	NM_134261.3(RORA):c.1447C>T (p.Arg483Ter)	RORA, RORA-AS1 (R428* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 932229	NM_134261.3(RORA):c.802G>A (p.Val268Met)	RORA, RORA-AS1 (V293M +3 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 812183	15q22.2deletion	RORA	Deletion	15q22.2 deletion syndrome	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 803100	NM_134261.3(RORA):c.386G>A (p.Arg129Gln)	RORA, RORA-AS1 (R154Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	GLikely pathogenic
Select item 782594	NM_134261.3(RORA):c.987A>G (p.Glu329=)	RORA, RORA-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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