ClinVar for Gene (Select 2182) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 314

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373454	NM_001318510.2(ACSL4):c.1211C>A (p.Pro404Gln)	ACSL4 (P404Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367462	NM_001318510.2(ACSL4):c.313G>A (p.Gly105Arg)	ACSL4 (G105R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367327	NM_001318510.2(ACSL4):c.1034T>C (p.Met345Thr)	ACSL4 (M345T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3365651	NM_001318510.2(ACSL4):c.1981A>C (p.Lys661Gln)	ACSL4 (K661Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364185	NM_001318510.2(ACSL4):c.629A>G (p.Glu210Gly)	ACSL4 (E210G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364111	NM_001318510.2(ACSL4):c.1855dup (p.Met619fs)	ACSL4 (M619fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3363479	NM_001318510.2(ACSL4):c.758A>G (p.Asn253Ser)	ACSL4 (N253S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362695	NM_001318510.2(ACSL4):c.1315+1G>A	ACSL4	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 3360140	NM_001318510.2(ACSL4):c.476A>T (p.Tyr159Phe)	ACSL4 (Y159F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360064	NM_001318510.2(ACSL4):c.-12-7T>G	ACSL4 (N35K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359030	NM_001318510.2(ACSL4):c.1001del (p.Pro334fs)	ACSL4 (P334fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 3342837	NM_001318510.2(ACSL4):c.727C>T (p.Arg243Ter)	ACSL4 (R243* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3342667	NM_001318510.2(ACSL4):c.1383G>T (p.Trp461Cys)	ACSL4 (W461C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336991	NM_001318510.2(ACSL4):c.1295G>A (p.Gly432Asp)	ACSL4 (G432D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3262880	NM_001318510.2(ACSL4):c.146T>A (p.Phe49Tyr)	ACSL4 (F49Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262860	NM_001318510.2(ACSL4):c.1669A>G (p.Ile557Val)	ACSL4 (I557V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3255102	NM_001318510.2(ACSL4):c.67C>T (p.His23Tyr)	ACSL4 (H23Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3238777	NM_001318510.2(ACSL4):c.1051A>G (p.Met351Val)	ACSL4 (M351V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 3235779	NM_001318510.2(ACSL4):c.430G>A (p.Gly144Ser)	ACSL4 (G144S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3139970	NM_001318510.2(ACSL4):c.1211C>T (p.Pro404Leu)	ACSL4 (P404L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3062474	GRCh37/hg19 Xq23(chrX:108933996-109340564)	ACSL4, TMEM164	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3040810	NM_001318510.2(ACSL4):c.1891C>T (p.Arg631Ter)	ACSL4 (R631* +1 more)	Single nucleotide variant (nonsense)	ACSL4-related disorder	GUncertain significance
Select item 3037160	NM_001318510.2(ACSL4):c.-12-40C>T	ACSL4	Single nucleotide variant (synonymous variant +1 more)	ACSL4-related disorder	GBenign
Select item 3029713	NM_001318510.2(ACSL4):c.120A>T (p.Lys40Asn)	ACSL4 (K40N +1 more)	Single nucleotide variant (missense variant)	ACSL4-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685003	GRCh37/hg19 Xq23(chrX:108963654-109197403)x3	ACSL4	Copy number gain	not provided	GUncertain significance
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2673254	NM_001318510.2(ACSL4):c.478C>A (p.Leu160Met)	ACSL4 (L160M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663155	NM_001318510.2(ACSL4):c.181C>G (p.Leu61Val)	ACSL4 (L102V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662472	NM_001318510.2(ACSL4):c.283A>G (p.Asn95Asp)	ACSL4 (N136D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661913	NM_001318510.2(ACSL4):c.1450A>C (p.Asn484His)	ACSL4 (N484H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2661187	NC_000023.11:g.109733429C>T	ACSL4, LOC105373311 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2661186	NM_001318510.2(ACSL4):c.82G>T (p.Ala28Ser)	ACSL4 (A28S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661185	NM_001318510.2(ACSL4):c.228+7T>G	ACSL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2661184	NM_001318510.2(ACSL4):c.395A>G (p.Tyr132Cys)	ACSL4 (Y132C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661183	NM_001318510.2(ACSL4):c.488G>C (p.Ser163Thr)	ACSL4 (S163T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661182	NM_001318510.2(ACSL4):c.680C>T (p.Thr227Met)	ACSL4 (T227M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661181	NM_001318510.2(ACSL4):c.773T>G (p.Met258Arg)	ACSL4 (M258R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661180	NM_001318510.2(ACSL4):c.1623T>C (p.Tyr541=)	ACSL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637803	NM_001318510.2(ACSL4):c.73G>A (p.Asp25Asn)	ACSL4 (D25N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582432	NM_001318510.2(ACSL4):c.1846G>T (p.Ala616Ser)	ACSL4 (A616S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2581860	NM_001318510.2(ACSL4):c.1022A>C (p.Tyr341Ser)	ACSL4 (Y341S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580002	NM_001318510.2(ACSL4):c.1910G>T (p.Trp637Leu)	ACSL4 (W637L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577685	NM_001318510.2(ACSL4):c.704T>C (p.Met235Thr)	ACSL4 (M235T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571842	NM_001318510.2(ACSL4):c.1487C>T (p.Thr496Ile)	ACSL4 (T496I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533519	NM_001318510.2(ACSL4):c.49C>T (p.Pro17Ser)	ACSL4 (P17S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2505655	NM_001318510.2(ACSL4):c.1771G>A (p.Val591Ile)	ACSL4 (V591I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502487	NM_001318510.2(ACSL4):c.1726del (p.Val576fs)	ACSL4 (V576fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2502074	NM_001318510.2(ACSL4):c.1100T>C (p.Leu367Ser)	ACSL4 (L367S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446218	NM_001318510.2(ACSL4):c.1482G>C (p.Glu494Asp)	ACSL4 (E494D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442101	NM_001318510.2(ACSL4):c.-10G>T	ACSL4 (K38N)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2438829	NM_001318510.2(ACSL4):c.805G>T (p.Gly269Ter)	ACSL4 (G269* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2438828	NM_001318510.2(ACSL4):c.1028A>C (p.Asn343Thr)	ACSL4 (N343T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 2428985	NM_001318510.2(ACSL4):c.-12-104T>G	ACSL4 (L3R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2266543	NM_001318510.2(ACSL4):c.1852G>A (p.Ala618Thr)	ACSL4 (A618T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2204097	NM_001318510.2(ACSL4):c.1508A>G (p.Asp503Gly)	ACSL4 (D503G +1 more)	Single nucleotide variant (missense variant)	ACSL4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1809431	GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	ACSL4, ALG13 +10 more	Copy number loss	not provided	GPathogenic
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1805575	NM_001318510.2(ACSL4):c.468G>T (p.Glu156Asp)	ACSL4 (E156D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1804765	NM_001318510.2(ACSL4):c.1070C>A (p.Thr357Asn)	ACSL4 (T357N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804263	NM_001318510.2(ACSL4):c.96C>G (p.Ile32Met)	ACSL4 (I32M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800993	NM_001318510.2(ACSL4):c.1973A>G (p.His658Arg)	ACSL4 (H658R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1784509	NM_001318510.2(ACSL4):c.1074G>T (p.Leu358=)	ACSL4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1782547	NM_001318510.2(ACSL4):c.1914C>A (p.Thr638=)	ACSL4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GBenign
Select item 1778562	NM_001318510.2(ACSL4):c.1710T>C (p.Tyr570=)	ACSL4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1772994	NM_001318510.2(ACSL4):c.1453A>G (p.Ile485Val)	ACSL4 (I485V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1772431	NM_001318510.2(ACSL4):c.1428T>C (p.Gly476=)	ACSL4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1765906	NM_001318510.2(ACSL4):c.912G>A (p.Pro304=)	ACSL4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1762576	NM_001318510.2(ACSL4):c.823A>G (p.Ile275Val)	ACSL4 (I316V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1723411	NM_001318510.2(ACSL4):c.-12-53C>G	ACSL4 (T20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1710853	NM_001318510.2(ACSL4):c.1906C>T (p.Pro636Ser)	ACSL4 (P636S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710542	NM_001318510.2(ACSL4):c.1393G>T (p.Gly465Cys)	ACSL4 (G465C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1710150	NM_001318510.2(ACSL4):c.257del (p.Asn86fs)	ACSL4 (N127fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 1709879	NM_001318510.2(ACSL4):c.1072_1073del (p.Leu358fs)	ACSL4 (L358fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1706284	NM_001318510.2(ACSL4):c.419A>G (p.Tyr140Cys)	ACSL4 (Y140C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706238	NM_001318510.2(ACSL4):c.602T>G (p.Phe201Cys)	ACSL4 (F201C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703079	NM_001318510.2(ACSL4):c.1790A>G (p.Asp597Gly)	ACSL4 (D597G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698469	NM_001318510.2(ACSL4):c.1490C>T (p.Ala497Val)	ACSL4 (A497V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696650	NM_001318510.2(ACSL4):c.1698-3dup	ACSL4	Duplication (intron variant)	Intellectual disability, X-linked 63	GUncertain significance
Select item 1695311	NM_001318510.2(ACSL4):c.386G>C (p.Cys129Ser)	ACSL4 (C129S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1691846	NM_001318510.2(ACSL4):c.1653_1654insT (p.Lys552Ter)	ACSL4 (K552* +1 more)	Insertion (nonsense)	Intellectual disability, X-linked 63	GLikely pathogenic
Select item 1679824	NM_001318510.2(ACSL4):c.332C>A (p.Thr111Asn)	ACSL4 (T111N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1675197	NM_001318510.2(ACSL4):c.802del (p.Leu268fs)	ACSL4 (L268fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 63	GPathogenic
Select item 1526841	GRCh37/hg19 Xq23(chrX:108739103-109292915)	ACSL4, KCNE5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1432673	NM_001318510.2(ACSL4):c.406+2dup	ACSL4	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 4