NR0B1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151565	GRCh38/hg38 Xp21.2(chrX:30303676-30307893)x1	NR0B1	Copy number loss	See cases	GUncertain significance
Select item 10974	NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA	NR0B1	Indel	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 1278137	NM_000475.5(NR0B1):c.*242del	NR0B1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 444073	NM_000475.5(NR0B1):c.1169-112_*17delinsTG	NR0B1	Indel (splice acceptor variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 444072	NC_000023.11:g.(?_30304579)_(30309363_?)del	NR0B1	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 3338867	NM_000475.5(NR0B1):c.1411T>G (p.Ter471Glu)	NR0B1	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 978419	NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)	NR0B1	Single nucleotide variant (stop lost)	Congenital adrenal hypoplasia, X-linked	GLikely pathogenic
Select item 1205002	NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)	NR0B1 (I470M)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +2 more	GBenign/Likely benign
Select item 2939716	NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 10960	NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)	NR0B1 (D459fs)	Indel (frameshift variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 492859	NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)	NR0B1 (T455fs)	Microsatellite (frameshift variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 436028	NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)	NR0B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2923653	NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 2935250	NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)	NR0B1 (I452V)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 591253	NM_000475.5(NR0B1):c.1354A>T (p.Ile452Phe)	NR0B1 (I452F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2328791	NM_000475.5(NR0B1):c.1351C>G (p.Pro451Ala)	NR0B1 (P451A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806119	NM_000475.5(NR0B1):c.1350del (p.Arg450fs)	NR0B1 (R450fs)	Deletion (frameshift variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 3066153	NM_000475.5(NR0B1):c.1346T>C (p.Phe449Ser)	NR0B1 (F449S)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GUncertain significance
Select item 492858	NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)	NR0B1 (L447P)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 1927151	NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 10957	NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)	NR0B1 (N440I)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 10969	NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser)	NR0B1 (I439S)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 1634697	NM_000475.5(NR0B1):c.1308G>A (p.Leu436=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 279854	NM_000475.5(NR0B1):c.1301del (p.Phe434fs)	NR0B1 (F434fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2929268	NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2014691	NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)	NR0B1 (L429fs)	Deletion (frameshift variant)	46,XY sex reversal 2 +1 more	GPathogenic
Select item 2138497	NM_000475.5(NR0B1):c.1292del (p.Ser431fs)	NR0B1 (S431fs)	Deletion (frameshift variant)	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2931279	NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2941449	NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)	NR0B1 (I427V)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 55874	NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)	NR0B1 (R425I)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 2629746	NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)	NR0B1 (R425G)	Single nucleotide variant (missense variant)	NR0B1-related disorder	GPathogenic
Select item 587537	NM_000475.5(NR0B1):c.1267del (p.His423fs)	NR0B1 (H423fs)	Deletion (frameshift variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 2929266	NM_000475.5(NR0B1):c.1257C>T (p.His419=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2934022	NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2942663	NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2947541	NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2932120	NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2224546	NM_000475.5(NR0B1):c.1235G>A (p.Ser412Asn)	NR0B1 (S412N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 444074	NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)	NR0B1	Deletion (nonsense)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 10967	NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)	NR0B1 (L411fs)	Deletion (frameshift variant)	46,XY sex reversal 2 +1 more	GLikely pathogenic
Select item 2526374	NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)	NR0B1 (T407A)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2927212	NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 1612281	NM_000475.5(NR0B1):c.1209C>G (p.Leu403=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 1707528	NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)	NR0B1 (Q401*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 2923000	NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)	NR0B1 (I400V)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 10975	NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter)	NR0B1 (Y399*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 1308081	NM_000475.5(NR0B1):c.1196A>G (p.Tyr399Cys)	NR0B1 (Y399C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2930922	NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 10958	NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter)	NR0B1 (Q395*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2937471	NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 1541353	NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign/Likely benign
Select item 2010449	NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 2584486	NM_000475.5(NR0B1):c.1169-1G>T	NR0B1	Single nucleotide variant (splice acceptor variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 444075	NM_000475.5(NR0B1):c.1169-1G>A	NR0B1	Single nucleotide variant (splice acceptor variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 2941789	NM_000475.5(NR0B1):c.1169-8C>A	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2954059	NM_000475.5(NR0B1):c.1169-10C>T	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 492857	NM_000475.5(NR0B1):c.1168+1_1168+20del	NR0B1	Deletion (splice donor variant)	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 2922259	NM_000475.5(NR0B1):c.1168+13dup	NR0B1	Duplication (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2198975	NM_000475.5(NR0B1):c.1168+10C>G	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 2947831	NM_000475.5(NR0B1):c.1168+7G>T	NR0B1	Single nucleotide variant (intron variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 1371683	NM_000475.5(NR0B1):c.1168+1del	NR0B1	Deletion (splice donor variant)	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 1186881	NM_000475.5(NR0B1):c.1168+1G>T	NR0B1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2946827	NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2944703	NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2940020	NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)	NR0B1 (L386R)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2950342	NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)	NR0B1 (T384I)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 10964	NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)	NR0B1 (K382N)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 492856	NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	NR0B1 (L381P)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely pathogenic
Select item 10971	NM_000475.5(NR0B1):c.1142T>A (p.Leu381His)	NR0B1 (L381H)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 36665	NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)	NR0B1 (L381F)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic/Likely pathogenic
Select item 10973	NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp)	NR0B1 (Y380D)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 2951794	NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 492855	NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)	NR0B1 (T375fs)	Insertion (frameshift variant)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 1387098	NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)	NR0B1 (S374N)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2921915	NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2630071	NM_000475.5(NR0B1):c.1109G>A (p.Ser370Asn)	NR0B1 (S370N)	Single nucleotide variant (missense variant)	NR0B1-related disorder	GUncertain significance
Select item 10950	NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)	NR0B1 (W369*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 2941501	NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)	NR0B1 (C368*)	Single nucleotide variant (nonsense)	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2925662	NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)	NR0B1 (C368F)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 36664	NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)	NR0B1 (L365P)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GLikely pathogenic
Select item 2582295	NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)	NR0B1 (I361S)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked	GUncertain significance
Select item 2635085	NM_000475.5(NR0B1):c.1069del (p.Gln357fs)	NR0B1 (Q357fs)	Deletion (frameshift variant)	NR0B1-related disorder	GPathogenic
Select item 2922875	NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2928911	NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2953125	NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2943620	NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2925800	NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 836245	NM_000475.5(NR0B1):c.1042del (p.Glu348fs)	NR0B1 (E348fs)	Deletion (frameshift variant)	46,XY sex reversal 2 +1 more	GPathogenic
Select item 2184211	NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)	NR0B1 (A347E)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign
Select item 2396848	NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)	NR0B1 (P345T)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2660230	NM_000475.5(NR0B1):c.1032A>C (p.Ala344=)	NR0B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 703336	NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +3 more	GBenign/Likely benign
Select item 2950390	NM_000475.5(NR0B1):c.1023C>T (p.His341=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 2925711	NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)	NR0B1 (H341R)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GUncertain significance
Select item 2935184	NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 981459	NM_000475.5(NR0B1):c.1006dup (p.Val336fs)	NR0B1 (V336fs)	Duplication (frameshift variant)	Congenital adrenal hypoplasia, X-linked	GLikely pathogenic
Select item 2186176	NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)	NR0B1	Single nucleotide variant (synonymous variant)	Congenital adrenal hypoplasia, X-linked +1 more	GLikely benign
Select item 3201854	NM_000475.5(NR0B1):c.1004C>A (p.Pro335His)	NR0B1 (P335H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994658	NM_000475.5(NR0B1):c.998_1001dup (p.Pro335fs)	NR0B1 (P335fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2927059	NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)	NR0B1 (E332Q)	Single nucleotide variant (missense variant)	Congenital adrenal hypoplasia, X-linked +1 more	GBenign

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