LOC108663984[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 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 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 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 383456	NM_000032.5(ALAS2):c.390A>G (p.Thr130=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 381284	NM_000032.5(ALAS2):c.381G>A (p.Gly127=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 434119	NM_000032.5(ALAS2):c.373A>G (p.Ile125Val)	LOC108663984, ALAS2 (I125V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3108450	NM_000032.5(ALAS2):c.367G>A (p.Glu123Lys)	ALAS2, LOC108663984 (E123K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2443107	NM_000032.5(ALAS2):c.352G>A (p.Gly118Ser)	ALAS2, LOC108663984 (G118S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2893480	NM_000032.5(ALAS2):c.351C>T (p.Ser117=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987273	NM_000032.5(ALAS2):c.332G>A (p.Ser111Asn)	ALAS2, LOC108663984 (S111N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438967	NM_000032.5(ALAS2):c.314G>A (p.Ser105Asn)	ALAS2, LOC108663984 (S105N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2071111	NM_000032.5(ALAS2):c.305-8C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 799463	NM_000032.5(ALAS2):c.305-8C>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2843852	NM_000032.5(ALAS2):c.305-16T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262393	NM_000032.5(ALAS2):c.305-204A>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186036	NM_000032.5(ALAS2):c.305-229T>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634698	NM_000032.5(ALAS2):c.304+19C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3075690	NM_000032.5(ALAS2):c.304+2T>A	ALAS2, LOC108663984	Single nucleotide variant (splice donor variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 2777950	NM_000032.5(ALAS2):c.292G>A (p.Ala98Thr)	ALAS2, LOC108663984 (A122T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438962	NM_000032.5(ALAS2):c.287T>C (p.Val96Ala)	ALAS2, LOC108663984 (V120A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136358	NM_000032.5(ALAS2):c.282A>G (p.Glu94=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 392108	NM_000032.5(ALAS2):c.278A>G (p.Gln93Arg)	ALAS2, LOC108663984 (Q93R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1907350	NM_000032.5(ALAS2):c.239G>A (p.Gly80Glu)	ALAS2, LOC108663984 (G104E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514393	NM_000032.5(ALAS2):c.231C>A (p.Leu77=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +2 more	GBenign/Likely benign
Select item 2420608	NM_000032.5(ALAS2):c.225G>A (p.Ser75=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 214094	NM_000032.5(ALAS2):c.224C>T (p.Ser75Leu)	LOC108663984, ALAS2 (S75L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1283968	NM_000032.5(ALAS2):c.220C>T (p.Leu74=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 136357	NM_000032.5(ALAS2):c.198G>A (p.Ala66=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 796854	NM_000032.5(ALAS2):c.197C>T (p.Ala66Val)	ALAS2, LOC108663984 (A90V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 214093	NM_000032.5(ALAS2):c.190T>C (p.Ser64Pro)	ALAS2, LOC108663984 (S64P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2955924	NM_000032.5(ALAS2):c.182-8T>C	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799845	NM_000032.5(ALAS2):c.182-15C>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963183	NM_000032.5(ALAS2):c.182-18T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201264	NM_000032.5(ALAS2):c.182-77T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241604	NM_000032.5(ALAS2):c.182-286C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203476	NM_000032.5(ALAS2):c.181+52A>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931266	NM_000032.5(ALAS2):c.181+19C>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022999	NM_000032.5(ALAS2):c.181+11G>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign

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