NR0B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	VAMP7, VBP1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148082	GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	LOC130067993, LOC130067994 +919 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1398 more	Copy number gain	See cases	GPathogenic
Select item 148018	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	ACE2, ACE2-DT +1013 more	Copy number loss	See cases	GPathogenic
Select item 146239	GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	PDK3, PHEX +530 more	Copy number loss	See cases	GPathogenic
Select item 145623	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	FRMPD4-AS1, FTHL17 +1024 more	Copy number gain	See cases	GPathogenic
Select item 144263	GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	ACE2, ACE2-DT +983 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068159, LOC130068160 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59181	GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	ACE2, ACE2-DT +818 more	Copy number loss	See cases	GPathogenic
Select item 57339	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	ACE2, ACE2-DT +1022 more	Copy number loss	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC111365170, LOC111365174 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC110120679, LOC110120680 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	LOC130068097, LOC130068098 +1041 more	Copy number loss	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068002, LOC130068003 +1069 more	Copy number loss	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	GK, GK-AS1 +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 148957	GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	ACE2, ACE2-DT +536 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	ABCB7, ACE2 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	LOC130068016, LOC130068017 +1163 more	Copy number loss	See cases	GPathogenic
Select item 148356	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	LOC130067965, LOC130067966 +1008 more	Copy number loss	See cases	GPathogenic
Select item 148339	GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	ACE2, ACE2-DT +909 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068277, LOC130068278 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	ABCB7, ACE2 +1932 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	GAGE12H, GAGE12I +1163 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC126863344, LOC126863345 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144335	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	ACE2, ACE2-DT +1024 more	Copy number loss	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC125467792, LOC125467793 +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ABCB7, ABCD1 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	VCX3B, VEGFD +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	CENPVL1, CENPVL2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	CT47A6, CT47A7 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	LOC121627957, LOC121627958 +1154 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	CTPS2, CUL4B +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC130068611, LOC130068612 +2632 more	Copy number loss	See cases	GPathogenic
Select item 145973	GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	ACE2, ACE2-DT +533 more	Copy number loss	See cases	GPathogenic
Select item 155429	GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	FANCB, FRMPD4 +529 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	LOC130068209, LOC130068210 +1130 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	ABCB7, ACE2 +1798 more	Copy number gain	See cases	GPathogenic
Select item 153302	GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	LOC126863219, LOC126863220 +986 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC109396974, LOC109504725 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	ACE2, ACE2-DT +999 more	Copy number loss	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	WDR13, WDR44 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LINC00629, LINC00630 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	LOC107652445, LOC107985657 +1163 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	MIR1321, MIR1468 +1493 more	Copy number loss	See cases	GPathogenic
Select item 58559	GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	PHKA2-AS1, PIGA +708 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	TSR2, TXLNG +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	DMRTC1, DMRTC1B +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	DLG3, DLG3-AS1 +2593 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	ACE2, ACE2-DT +1130 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC116309156, LOC116309157 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130068344, LOC130068345 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC129391311, LOC129391312 +2585 more	Copy number gain	See cases	GPathogenic
Select item 152748	GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	LOC130067992, LOC130067993 +488 more	Copy number gain	See cases	GUncertain significance
Select item 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	LOC130068092, LOC130068093 +960 more	Copy number loss	See cases	GPathogenic
Select item 149009	GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	ACE2, ACE2-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	SYTL4, SYTL5 +2046 more	Copy number loss	See cases	GPathogenic
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 155618	GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3	CFAP47, CYBB +64 more	Copy number gain	See cases	GUncertain significance
Select item 149018	GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3	CFAP47, CYBB +64 more	Copy number gain	See cases	GUncertain significance
Select item 444069	NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del	DMD, FTHL17 +43 more	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 444070	NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del	LOC113875019, LOC116309149 +14 more	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 149148	GRCh38/hg38 Xp21.2(chrX:29601718-30322946)x3	IL1RAPL1, LOC108410393 +11 more	Copy number gain	See cases	GLikely benign
Select item 444071	NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del	LOC130068087, LOC130068088 +33 more	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 152876	GRCh38/hg38 Xp21.2(chrX:30027017-30322887)x0	LOC108410393, LOC113875019 +8 more	Copy number loss	See cases	GPathogenic
Select item 147348	GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0	DMD, FTHL17 +37 more	Copy number loss	See cases	GPathogenic
Select item 151565	GRCh38/hg38 Xp21.2(chrX:30303676-30307893)x1	NR0B1	Copy number loss	See cases	GUncertain significance
Select item 150926	GRCh38/hg38 Xp21.2(chrX:30303940-30322946)x2	LOC108410393, NR0B1	Copy number gain	See cases	GPathogenic
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 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)	NR0B1-related condition +3 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)	NR0B1-related condition +3 more	GBenign/Likely benign
Select item 2923653	NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)	NR0B1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 2 +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

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