UBQLN2[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 305

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +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 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1398 more	Copy number gain	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 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 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	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 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 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 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 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 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	ABCB7, ACE2 +1798 more	Copy number gain	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 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 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 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	SYTL4, SYTL5 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	LOC130068430, LOC130068431 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068386, LOC130068387 +824 more	Copy number loss	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	ALAS2, APEX2 +162 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	LOC130068353, LOC130068354 +169 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 148338	GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2	ALAS2, APEX2 +93 more	Copy number gain	See cases	GPathogenic
Select item 146617	GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2	ALAS2, APEX2 +92 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	EDA2R, EFNB1 +410 more	Copy number loss	See cases	GPathogenic
Select item 58638	GRCh38/hg38 Xp11.21-q11.2(chrX:55895084-65038751)x2	AMER1, ARHGEF9 +65 more	Copy number gain	See cases	GPathogenic
Select item 153232	GRCh38/hg38 Xp11.21(chrX:56041093-57333244)x2	FAAH2, KLF8 +24 more	Copy number gain	See cases	GUncertain significance
Select item 148296	GRCh38/hg38 Xp11.21-q11.2(chrX:56127875-63867853)x2	ARHGEF9, ARHGEF9-IT1 +47 more	Copy number gain	See cases	GPathogenic
Select item 155064	GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1	ABCB7, AMER1 +269 more	Copy number loss	See cases	GPathogenic
Select item 368603	NM_013444.3(UBQLN2):c.-277A>C	UBQLN2	Single nucleotide variant	Amyotrophic lateral sclerosis type 15 +1 more	GUncertain significance
Select item 913560	NM_013444.3(UBQLN2):c.-272T>C	UBQLN2	Single nucleotide variant	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 368604	NM_013444.3(UBQLN2):c.-271G>C	UBQLN2	Single nucleotide variant	Amyotrophic lateral sclerosis type 15 +1 more	GUncertain significance
Select item 368605	NM_013444.4(UBQLN2):c.-163G>T	UBQLN2	Single nucleotide variant (5 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GBenign/Likely benign
Select item 913945	NM_013444.4(UBQLN2):c.-159A>G	UBQLN2	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 368606	NM_013444.4(UBQLN2):c.-55CT[5]	UBQLN2	Microsatellite (5 prime UTR variant)	Amyotrophic Lateral Sclerosis, Dominant	GUncertain significance
Select item 913946	NM_013444.4(UBQLN2):c.-54T>G	UBQLN2	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2419975	NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)	UBQLN2 (A2S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1515048	NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg)	UBQLN2 (S7R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2169931	NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)	UBQLN2 (P17S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1664641	NM_013444.4(UBQLN2):c.51T>A (p.Pro17=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GBenign
Select item 1433104	NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val)	UBQLN2 (A19V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2883380	NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2702115	NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)	UBQLN2 (A26S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1422203	NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro)	UBQLN2 (A28P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1910274	NM_013444.4(UBQLN2):c.138C>T (p.Phe46=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 3046320	NM_013444.4(UBQLN2):c.141G>A (p.Ala47=)	UBQLN2	Single nucleotide variant (synonymous variant)	UBQLN2-related disorder	GLikely benign
Select item 2660709	NM_013444.4(UBQLN2):c.144G>A (p.Val48=)	UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856652	NM_013444.4(UBQLN2):c.150G>A (p.Glu50=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2729522	NM_013444.4(UBQLN2):c.159G>T (p.Ser53=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2884352	NM_013444.4(UBQLN2):c.165G>A (p.Gln55=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 2698191	NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 2095462	NM_013444.4(UBQLN2):c.186G>A (p.Ser62=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15	GLikely benign
Select item 1988072	NM_013444.4(UBQLN2):c.195C>T (p.Phe65=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 15 +1 more	GLikely benign
Select item 368607	NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)	UBQLN2	Single nucleotide variant (synonymous variant)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 2683591	NM_013444.4(UBQLN2):c.253G>C (p.Asp85His)	UBQLN2 (D85H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748925	NM_013444.4(UBQLN2):c.264C>T (p.Ile88=)	UBQLN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502123	NM_013444.4(UBQLN2):c.267G>T (p.Gln89His)	UBQLN2 (Q89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310943	NM_013444.4(UBQLN2):c.278A>G (p.His93Arg)	UBQLN2 (H93R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15 +1 more	GUncertain significance
Select item 3019910	NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)	UBQLN2 (L96M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance
Select item 1301534	NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val)	UBQLN2 (I102V)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 1507448	NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln)	UBQLN2 (R107Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 15	GUncertain significance

<< First< Prev

Page of 4