TCEAL1[gene] - ClinVar - NCBI

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	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 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 57973	GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1	ARMCX1, ARMCX2 +90 more	Copy number loss	See cases	GPathogenic
Select item 58664	GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3	ARMCX2, ARMCX3 +108 more	Copy number gain	See cases	GPathogenic
Select item 148341	GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	MAGEA8-AS1, MAGEA9 +1075 more	Copy number loss	See cases	GPathogenic
Select item 144469	GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2	BEX3, H2BW1 +28 more	Copy number gain	See cases	GPathogenic
Select item 150055	GRCh38/hg38 Xq22.2(chrX:103404405-103913265)x2	LINC02589, LL0XNC01-250H12.3 +22 more	Copy number gain	See cases	GPathogenic
Select item 11093	NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup	H2BW2, IL1RAPL2 +32 more	Duplication	Pelizaeus-Merzbacher disease	GPathogenic
Select item 152902	GRCh38/hg38 Xq22.2(chrX:103602874-103881017)x2	LOC113845781, LOC126863297 +11 more	Copy number gain	See cases	GPathogenic
Select item 147479	GRCh38/hg38 Xq22.2(chrX:103602874-103832685)x2	LOC113845781, LOC126863297 +11 more	Copy number gain	See cases	GPathogenic
Select item 2661100	NM_004780.3(TCEAL1):c.6C>T (p.Asp2=)	LOC130068513, TCEAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3175048	NM_004780.3(TCEAL1):c.28G>C (p.Glu10Gln)	TCEAL1 (E10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175049	NM_004780.3(TCEAL1):c.34C>T (p.Pro12Ser)	TCEAL1 (P12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673275	NM_004780.3(TCEAL1):c.61G>T (p.Glu21Ter)	TCEAL1 (E21*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic
Select item 2573533	NM_004780.3(TCEAL1):c.84dup (p.Pro29fs)	TCEAL1 (P29fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 3068455	NM_004780.3(TCEAL1):c.88_89insT (p.Glu30fs)	TCEAL1 (E30fs)	Insertion (frameshift variant)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GUncertain significance
Select item 2263861	NM_004780.3(TCEAL1):c.98C>T (p.Ser33Phe)	TCEAL1 (S33F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580920	NM_004780.3(TCEAL1):c.124_138dup (p.Glu46_Glu47insGlnSerSerGluGlu)	TCEAL1	Duplication (inframe_insertion)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GUncertain significance
Select item 2298985	NM_004780.3(TCEAL1):c.148C>T (p.Pro50Ser)	TCEAL1 (P50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2673276	NM_004780.3(TCEAL1):c.151G>T (p.Glu51Ter)	TCEAL1 (E51*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic
Select item 1700035	NM_004780.3(TCEAL1):c.169del (p.Leu57fs)	TCEAL1 (L57fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 3175047	NM_004780.3(TCEAL1):c.196G>T (p.Glu66Ter)	TCEAL1 (E66*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1700031	NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter)	TCEAL1 (Q87*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 1700032	NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr)	TCEAL1 (C90Y)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2661101	NM_004780.3(TCEAL1):c.276A>G (p.Val92=)	TCEAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700030	NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs)	TCEAL1 (G100fs)	Microsatellite (frameshift variant)	See cases	GLikely pathogenic
Select item 2673278	NM_004780.3(TCEAL1):c.311_314del (p.Glu104fs)	TCEAL1 (E104fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic

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