55289[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 153254	GRCh38/hg38 2q13(chr2:110631041-111007139)x1	ACOXL, BUB1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	LOC129934578, LOC129934579 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 223093	NC_000002.12:g.(?_110649261)_(112345017_?)del	ACOXL, ACOXL-AS1 +50 more	Deletion	not provided	GLikely pathogenic
Select item 148494	GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148389	GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3	ACOXL, ACOXL-AS1 +51 more	Copy number gain	See cases	GLikely benign
Select item 59324	GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 151397	GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 32080	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 154416	GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 2263355	NM_001142807.4(ACOXL):c.58C>T (p.Arg20Cys)	ACOXL (R20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304363	NM_001142807.4(ACOXL):c.148A>G (p.Thr50Ala)	ACOXL (T50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331773	NM_001142807.4(ACOXL):c.155T>A (p.Val52Glu)	ACOXL (V52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138602	NM_001142807.4(ACOXL):c.278C>A (p.Thr93Asn)	ACOXL (T93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326325	NM_001142807.4(ACOXL):c.280G>A (p.Glu94Lys)	ACOXL (E94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348775	NM_001142807.4(ACOXL):c.325A>G (p.Thr109Ala)	ACOXL (T109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458935	NM_001142807.4(ACOXL):c.377C>T (p.Ala126Val)	ACOXL (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398867	NM_001142807.4(ACOXL):c.442A>T (p.Ile148Leu)	ACOXL (I148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275190	NM_001142807.4(ACOXL):c.467A>T (p.His156Leu)	ACOXL, LOC126806307 (H156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467648	NM_001142807.4(ACOXL):c.470G>A (p.Cys157Tyr)	ACOXL, LOC126806307 (C157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372609	NM_001142807.4(ACOXL):c.571A>G (p.Ile191Val)	ACOXL (I191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368050	NM_001142807.4(ACOXL):c.682T>C (p.Phe228Leu)	ACOXL (F228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380345	NM_001142807.4(ACOXL):c.724G>T (p.Val242Leu)	ACOXL (V242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237480	NM_001142807.4(ACOXL):c.746C>T (p.Ala249Val)	ACOXL (A249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546544	NM_001142807.4(ACOXL):c.766A>G (p.Ile256Val)	ACOXL (I256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138644	NM_001142807.4(ACOXL):c.768A>G (p.Ile256Met)	ACOXL (I256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138649	NM_001142807.4(ACOXL):c.770C>G (p.Ala257Gly)	ACOXL (A257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211672	NM_001142807.4(ACOXL):c.856C>T (p.Arg286Trp)	ACOXL (R286W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289560	NM_001142807.4(ACOXL):c.865C>A (p.Pro289Thr)	ACOXL (P289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319845	NM_001142807.4(ACOXL):c.911C>T (p.Ala304Val)	ACOXL (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138656	NM_001142807.4(ACOXL):c.962G>A (p.Ser321Asn)	ACOXL (S321N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262360	NM_001142807.4(ACOXL):c.965G>A (p.Arg322His)	ACOXL (R322H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300194	NM_001142807.4(ACOXL):c.1040G>A (p.Arg347His)	ACOXL (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612088	NM_001142807.4(ACOXL):c.1048A>G (p.Thr350Ala)	ACOXL (T350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604706	NM_001142807.4(ACOXL):c.1051G>A (p.Gly351Arg)	ACOXL (G351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138554	NM_001142807.4(ACOXL):c.1069C>T (p.Arg357Trp)	ACOXL (R357W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138559	NM_001142807.4(ACOXL):c.1070G>A (p.Arg357Gln)	ACOXL (R387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249151	NM_001142807.4(ACOXL):c.1100A>G (p.Tyr367Cys)	ACOXL (Y367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552504	NM_001142807.4(ACOXL):c.1120G>C (p.Gly374Arg)	ACOXL (G374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363516	NM_001142807.4(ACOXL):c.1121G>A (p.Gly374Asp)	ACOXL (G404D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262370	NM_001142807.4(ACOXL):c.1226T>A (p.Val409Glu)	ACOXL (V409E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223812	NM_001142807.4(ACOXL):c.1253G>A (p.Arg418Gln)	ACOXL (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601623	NM_001142807.4(ACOXL):c.1283T>C (p.Val428Ala)	ACOXL (V428A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138575	NM_001142807.4(ACOXL):c.1333C>T (p.His445Tyr)	ACOXL (H475Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138578	NM_001142807.4(ACOXL):c.1348T>G (p.Ser450Ala)	ACOXL (S480A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615817	NM_001142807.4(ACOXL):c.1454A>G (p.Tyr485Cys)	ACOXL (Y485C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138581	NM_001142807.4(ACOXL):c.1481G>A (p.Arg494Gln)	ACOXL (R494Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408664	NM_001142807.4(ACOXL):c.1481G>T (p.Arg494Leu)	ACOXL (R524L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398553	NM_001142807.4(ACOXL):c.1487G>T (p.Trp496Leu)	ACOXL (W496L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138591	NM_001142807.4(ACOXL):c.1526C>T (p.Thr509Met)	ACOXL (T539M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138596	NM_001142807.4(ACOXL):c.1696C>T (p.Arg566Trp)	ACOXL (R566W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242293	GRCh37/hg19 2q13(chr2:111394609-112009912)x1	ACOXL, BCL2L11 +1 more	Copy number loss	not provided	GPathogenic
Select item 3148895	GRCh37/hg19 2q13(chr2:111397950-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2580318	GRCh37/hg19 2q13(chr2:111335152-113127204)x1	ACOXL, ANAPC1 +9 more	Copy number loss	2q13 microdeletion syndrome	GPathogenic
Select item 2578904	GRCh37/hg19 2q13(chr2:111395541-113090065)x1	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2498870	GRCh37/hg19 2q13(chr2:111368292-113191030)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1809118	GRCh37/hg19 2q13(chr2:111423886-111709177)x1	ACOXL, BUB1	Copy number loss	not provided	GUncertain significance
Select item 1808718	GRCh37/hg19 2q13(chr2:111366256-113127751)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1808680	GRCh37/hg19 2q13(chr2:111365996-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808613	GRCh37/hg19 2q13(chr2:111397786-113111856)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807763	GRCh37/hg19 2q13(chr2:111369264-113142794)x1	ACOXL, ANAPC1 +8 more	Copy number loss	not provided	GPathogenic
Select item 1705942	GRCh37/hg19 2q13(chr2:111365995-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	Anemia, unspecified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339793	GRCh37/hg19 2q13(chr2:111409518-113127751)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	Gnot provided
Select item 983183	GRCh37/hg19 2q13(chr2:111368818-113065741)x3	ZC3H6, ANAPC1 +7 more	Copy number gain	See cases	GLikely pathogenic
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 814293	GRCh37/hg19 2q13(chr2:111520742-112240320)x3	BCL2L11, ACOXL	Copy number gain	not provided	GUncertain significance
Select item 688671	GRCh37/hg19 2q13(chr2:111388619-113137529)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 687786	GRCh37/hg19 2q13(chr2:111388619-113199850)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 686865	GRCh37/hg19 2q13(chr2:111382460-113115979)x3	ACOXL, ANAPC1 +7 more	Copy number gain	not provided	GPathogenic
Select item 686485	GRCh37/hg19 2q13(chr2:111382460-113137975)x3	ACOXL, ANAPC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625831	GRCh37/hg19 2q13(chr2:111395603-113251000)	ACOXL, ANAPC1 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 625548	GRCh37/hg19 2q13(chr2:111395351-113102594)	ACOXL, ANAPC1 +7 more	Copy number loss	not provided	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562655	GRCh37/hg19 2q13(chr2:110980294-113137529)x1	ACOXL, ANAPC1 +10 more	Copy number loss	not provided	GPathogenic
Select item 562650	GRCh37/hg19 2q13(chr2:111366255-113111856)x1	MERTK, TMEM87B +7 more	Copy number loss	not provided	GPathogenic
Select item 562649	GRCh37/hg19 2q13(chr2:111388618-113127751)x3	MERTK, FBLN7 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 562628	GRCh37/hg19 2q13(chr2:110504318-111622976)x3	LIMS4, NPHP1 +6 more	Copy number gain	not provided	GLikely benign
Select item 562607	GRCh37/hg19 2q13(chr2:111872164-112530684)x3	BCL2L11, ACOXL +1 more	Copy number gain	not provided	GUncertain significance
Select item 560135	Single allele	ACOXL, BCL2L11 +20 more	Duplication	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443191	GRCh37/hg19 2q13(chr2:111388618-113111870)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442807	GRCh37/hg19 2q13(chr2:111388618-113115979)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GLikely benign
Select item 442732	GRCh37/hg19 2q13(chr2:111400705-113111856)x1	ACOXL, ANAPC1 +7 more	Copy number loss	See cases	GUncertain significance

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