212[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	LOC130068431, LOC130068432 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	KLHL13, KLHL15 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC126863269, LOC126863270 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068436, LOC130068437 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	CSAG1, CSAG2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068322, LOC130068323 +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	AMELX, AMER1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863254, LOC126863255 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130068048, LOC130068049 +1476 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	ASMTL-AS1, ATP6AP2 +1629 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	DCAF8L1, DCAF8L2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068203, LOC130068204 +1933 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	GPC4, GPKOW +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	LOC126863275, LOC126863276 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	ABCB7, ABCD1 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ACSL4, ACTRT1 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	NLGN3, NLGN4X +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC121853053, LOC121853054 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC126863325, LOC126863326 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	AMELX, AMER1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	LOC126863212, LOC126863213 +1155 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC130068015, LOC130068010 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC126863191, LOC126863192 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	LOC130067956, LOC130067957 +1131 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130068490, LOC130068491 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1217 more	Copy number loss	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130068278, LOC130068279 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC119407413, LOC119407414 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	LOC130068297, LOC130068298 +1164 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	FOXP3, FOXR2 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	ABCB7, ABCD1 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	LINC01545, LINC01546 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	APOOL, LOC130067933 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	LOC119369039, LOC119407397 +1131 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	VAMP7, VBP1 +2099 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	RPL36A, RPL36A-HNRNPH2 +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	ABCB7, ACSL4 +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	APEX2, ALAS2 +169 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	LOC130068846, LOC130068847 +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	ABCB7, ALAS2 +410 more	Copy number loss	See cases	GPathogenic
Select item 913522	NM_000032.5(ALAS2):c.*124C>T	ALAS2, APEX2	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GBenign/Likely benign
Select item 368590	NM_000032.5(ALAS2):c.*56A>C	ALAS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 40978	NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	ALAS2 (Y586F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 36 +2 more	GConflicting classifications of pathogenicity
Select item 2690872	NM_000032.5(ALAS2):c.1744_1746delinsA (p.Tyr582fs)	ALAS2 (Y545fs +2 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1351081	NM_000032.5(ALAS2):c.1742A>G (p.Gln581Arg)	ALAS2 (Q568R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3709734	NM_000032.5(ALAS2):c.1732A>C (p.Met578Leu)	ALAS2 (M541L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753250	NM_000032.5(ALAS2):c.1725C>T (p.Phe575=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214091	NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)	ALAS2 (S573F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 10482	NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)	ALAS2 (E532fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10476	NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly)	ALAS2 (S568G +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10483	NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)	ALAS2 (M530fs +2 more)	Deletion (frameshift variant)	X-linked erythropoietic protoporphyria	GPathogenic
Select item 214104	NM_000032.5(ALAS2):c.1699A>G (p.Met567Val)	ALAS2 (M567V +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3678115	NM_000032.5(ALAS2):c.1698C>G (p.Leu566=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607684	NM_000032.5(ALAS2):c.1696C>T (p.Leu566Phe)	ALAS2 (L566F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634710	NM_000032.5(ALAS2):c.1695G>C (p.Glu565Asp)	ALAS2 (E528D +2 more)	Single nucleotide variant (missense variant)	ALAS2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 393267	NM_000032.5(ALAS2):c.1693G>C (p.Glu565Gln)	ALAS2 (E565Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737235	NM_000032.5(ALAS2):c.1685T>C (p.Val562Ala)	ALAS2 (V562A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303063	NM_000032.5(ALAS2):c.1679G>A (p.Arg560His)	ALAS2 (R523H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873637	NM_000032.5(ALAS2):c.1678C>T (p.Arg560Cys)	ALAS2 (R523C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214100	NM_000032.5(ALAS2):c.1676G>C (p.Arg559Pro)	ALAS2 (R559P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 214090	NM_000032.5(ALAS2):c.1676G>A (p.Arg559His)	ALAS2 (R559H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 60674	NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs)	ALAS2 (S538fs +2 more)	Deletion (frameshift variant)	X-linked erythropoietic protoporphyria	GPathogenic
Select item 2683635	NM_000032.5(ALAS2):c.1646_1664dup (p.Cys555Ter)	ALAS2 (C518* +2 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 3779372	NM_000032.5(ALAS2):c.1651T>G (p.Ser551Ala)	ALAS2 (S514A +2 more)	Single nucleotide variant (missense variant)	X-linked erythropoietic protoporphyria	GUncertain significance
Select item 388258	NM_000032.5(ALAS2):c.1647T>C (p.Asp549=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 60673	NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter)	ALAS2 (Q548* +2 more)	Single nucleotide variant (nonsense)	X-linked erythropoietic protoporphyria	GPathogenic
Select item 3607761	NM_000032.5(ALAS2):c.1639C>G (p.Leu547Val)	ALAS2 (L510V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913904	NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)	ALAS2	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 368591	NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3360098	NM_000032.5(ALAS2):c.1623_1625del (p.Ala542del)	ALAS2 (A505del +2 more)	Deletion	not provided	GUncertain significance
Select item 1898749	NM_000032.5(ALAS2):c.1625C>T (p.Ala542Val)	ALAS2 (A505V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1613148	NM_000032.5(ALAS2):c.1623T>C (p.Thr541=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867811	NM_000032.5(ALAS2):c.1622C>T (p.Thr541Ile)	ALAS2 (T528I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986194	NM_000032.5(ALAS2):c.1621A>T (p.Thr541Ser)	ALAS2 (T541S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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