SATL1[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	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +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	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +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 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	ABCB7, AKAP4 +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 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	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 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	LOC113875008, LOC113875009 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068588, LOC130068589 +1467 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC116309158, LOC116309159 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	GPRASP2, GPRASP3 +1464 more	Copy number loss	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	LOC130068848, LOC130068849 +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	DNAAF6, DNASE1L1 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	ABCD1, ACSL4 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	LOC130068886, LOC130068887 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	TCP11X2, TENM1 +1225 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	FAM3A, FAM50A +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	LOC113875015, LOC113875016 +1197 more	Copy number loss	See cases	GPathogenic
Select item 57134	GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1	APOOL, BRWD3 +40 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	CT45A10, CT45A2 +1193 more	Copy number loss	See cases	GPathogenic
Select item 57928	GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1	APOOL, BRWD3 +29 more	Copy number loss	See cases	GPathogenic
Select item 150837	GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0	APOOL, BRWD3 +38 more	Copy number loss	See cases	GPathogenic
Select item 154304	GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	APOOL, ARL13A +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 57931	GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1	APOOL, CHM +21 more	Copy number loss	See cases	GPathogenic
Select item 57965	GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1	APOOL, CHM +21 more	Copy number loss	See cases	GPathogenic
Select item 57967	GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0	APOOL, CHM +21 more	Copy number loss	See cases	GPathogenic
Select item 146002	GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1	APOOL, CHM +19 more	Copy number loss	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	ABCD1, ACSL4 +1181 more	Copy number loss	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	LOC130068516, LOC130068517 +1180 more	Copy number loss	See cases	GPathogenic
Select item 155039	GRCh38/hg38 Xq21.1-21.2(chrX:85089622-85949735)x2	APOOL, CHM +6 more	Copy number gain	See cases	GUncertain significance
Select item 2204645	NM_001367857.2(SATL1):c.1852T>C (p.Phe618Leu)	SATL1 (F618L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042534	NM_001367857.2(SATL1):c.1762C>T (p.Gln588Ter)	SATL1 (Q588*)	Single nucleotide variant (nonsense)	SATL1-related condition	GLikely benign
Select item 3037120	NM_001367857.2(SATL1):c.1755C>T (p.Asn585=)	SATL1	Single nucleotide variant (synonymous variant)	SATL1-related condition	GBenign
Select item 2526737	NM_001367857.2(SATL1):c.1703G>C (p.Arg568Thr)	SATL1 (R568T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059185	NM_001367857.2(SATL1):c.1694-8T>C	SATL1	Single nucleotide variant (intron variant)	SATL1-related condition	GBenign
Select item 3059876	NM_001367857.2(SATL1):c.1693+6G>A	SATL1	Single nucleotide variant (intron variant)	SATL1-related condition	GBenign
Select item 2542970	NM_001367857.2(SATL1):c.1681T>A (p.Leu561Ile)	SATL1 (L561I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556647	NM_001367857.2(SATL1):c.1600G>A (p.Ala534Thr)	SATL1 (A534T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044223	NM_001367857.2(SATL1):c.1428G>A (p.Arg476=)	SATL1	Single nucleotide variant (synonymous variant)	SATL1-related condition	GBenign
Select item 3049685	NM_001367857.2(SATL1):c.1414A>T (p.Ser472Cys)	SATL1 (S472C)	Single nucleotide variant (missense variant)	SATL1-related condition	GBenign
Select item 2355688	NM_001367857.2(SATL1):c.1413G>A (p.Met471Ile)	SATL1 (M471I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399099	NM_001367857.2(SATL1):c.1408G>A (p.Gly470Ser)	SATL1 (G470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271530	NM_001367857.2(SATL1):c.1349T>C (p.Val450Ala)	SATL1 (V450A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391927	NM_001367857.2(SATL1):c.1345C>G (p.Gln449Glu)	SATL1 (Q449E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044194	NM_001367857.2(SATL1):c.1325G>A (p.Trp442Ter)	SATL1 (W442*)	Single nucleotide variant (nonsense)	SATL1-related condition	GBenign
Select item 2221518	NM_001367857.2(SATL1):c.1157T>C (p.Met386Thr)	SATL1 (M386T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601664	NM_001367857.2(SATL1):c.1097C>T (p.Thr366Met)	SATL1 (T366M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241210	NM_001367857.2(SATL1):c.1085G>A (p.Arg362Lys)	SATL1 (R362K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545103	NM_001367857.2(SATL1):c.1071C>G (p.Ser357Arg)	SATL1 (S357R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034538	NM_001367857.2(SATL1):c.929A>T (p.Asp310Val)	SATL1 (D310V)	Single nucleotide variant (missense variant)	SATL1-related condition	GLikely benign
Select item 3047371	NM_001367857.2(SATL1):c.907C>T (p.Gln303Ter)	SATL1 (Q303*)	Single nucleotide variant (nonsense)	SATL1-related condition	GLikely benign
Select item 2661000	NM_001367857.2(SATL1):c.906G>A (p.Arg302=)	SATL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597297	NM_001367857.2(SATL1):c.840T>A (p.Ser280Arg)	SATL1 (S280R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059278	NM_001367857.2(SATL1):c.835T>C (p.Trp279Arg)	SATL1 (W279R)	Single nucleotide variant (missense variant)	SATL1-related condition	GBenign
Select item 2271148	NM_001367857.2(SATL1):c.778G>A (p.Gly260Ser)	SATL1 (G260S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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