1678[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 237

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +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	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +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	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +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 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +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 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	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	ABCB7, ABCD1 +1254 more	Copy number loss	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	LOC130068496, LOC130068497 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	MCTS1, MECP2 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	ABCD1, ACSL4 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	LOC126863325, LOC126863326 +1225 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	LOC130068537, LOC130068538 +1206 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 146845	GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	LAMP2, LDOC1 +1197 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	ABCD1, ACSL4 +1193 more	Copy number loss	See cases	GPathogenic
Select item 154304	GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	NXF5, PABPC5 +241 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	LOC130068661, LOC130068662 +1181 more	Copy number loss	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	ABCD1, ACSL4 +1180 more	Copy number loss	See cases	GPathogenic
Select item 144262	GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	LOC130068480, LOC130068481 +1169 more	Copy number gain	See cases	GPathogenic
Select item 153756	GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	LOC101927830, LOC101928335 +1159 more	Copy number loss	See cases	GPathogenic
Select item 150509	GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	ABCD1, ACSL4 +1155 more	Copy number loss	See cases	GPathogenic
Select item 153730	GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	ABCD1, ACSL4 +1152 more	Copy number loss	See cases	GPathogenic
Select item 145981	GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	ABCD1, ACSL4 +1150 more	Copy number loss	See cases	GPathogenic
Select item 150337	GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3	LOC130068508, LOC130068509 +250 more	Copy number gain	See cases	GPathogenic
Select item 147352	GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	LOC126863349, LOC129391309 +1143 more	Copy number gain	See cases	GPathogenic
Select item 151255	GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1	ARL13A, ARMCX1 +133 more	Copy number loss	See cases	GPathogenic
Select item 148958	GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	LOC121627985, LOC121627986 +1141 more	Copy number gain	See cases	GPathogenic
Select item 57971	GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	ABCD1, ACSL4 +1123 more	Copy number loss	See cases	GPathogenic
Select item 146790	GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4	ACSL4, AMMECR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 155671	GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2	ARL13A, ARMCX4 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57972	GRCh38/hg38 Xq22.1(chrX:101323599-101596196)x1	ARMCX1, ARMCX4 +10 more	Copy number loss	See cases	GPathogenic
Select item 1312519	NC_000023.11:g.101345283_101347393del	TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 11323	NC_000023.11:g.(?_101345661)_(101348742_?)del	LOC130068494, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 21394	NM_004085.4(TIMM8A):c.503_505dup	TIMM8A	Duplication (3 prime UTR variant)	Deafness dystonia syndrome	GBenign
Select item 505064	NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg)	TIMM8A (S94R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2183176	NM_004085.4(TIMM8A):c.270T>C (p.Val90=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1582552	NM_004085.4(TIMM8A):c.267A>G (p.Pro89=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1617249	NM_004085.4(TIMM8A):c.258A>G (p.Lys86=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 513750	NM_004085.4(TIMM8A):c.252C>T (p.Thr84=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1220355	NM_004085.4(TIMM8A):c.251C>T (p.Thr84Ile)	TIMM8A (T84I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 3337673	NM_004085.4(TIMM8A):c.239G>A (p.Arg80Gln)	TIMM8A (R80Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 11324	NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter)	TIMM8A (R80*)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 1185678	NM_004085.4(TIMM8A):c.232_233insCAAT (p.Leu78fs)	TIMM8A (L78fs)	Insertion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GLikely pathogenic
Select item 2980875	NM_004085.4(TIMM8A):c.226T>C (p.Phe76Leu)	TIMM8A (F76L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1351579	NM_004085.4(TIMM8A):c.226T>G (p.Phe76Val)	TIMM8A (F76V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1596085	NM_004085.4(TIMM8A):c.225G>A (p.Gln75=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1703041	NM_004085.4(TIMM8A):c.223C>T (p.Gln75Ter)	TIMM8A (Q75*)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 2808185	NM_004085.4(TIMM8A):c.219A>C (p.Thr73=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193516	NM_004085.4(TIMM8A):c.216T>C (p.Asp72=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2825134	NM_004085.4(TIMM8A):c.206G>A (p.Arg69His)	TIMM8A (R69H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1178826	NM_004085.4(TIMM8A):c.199G>A (p.Val67Ile)	TIMM8A (V67I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 11321	NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	TIMM8A (C66W)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GLikely pathogenic
Select item 1686260	NM_004085.4(TIMM8A):c.181del (p.Ala61fs)	TIMM8A (A61fs)	Deletion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic

<< First< Prev

Page of 3