24762[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3192406	NM_198581.3(ZC3H6):c.17A>C (p.His6Pro)	LOC129934580, ZC3H6 (H6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595674	NM_198581.3(ZC3H6):c.43G>A (p.Glu15Lys)	ZC3H6 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293511	NM_198581.3(ZC3H6):c.77T>C (p.Phe26Ser)	ZC3H6 (F26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264858	NM_198581.3(ZC3H6):c.161A>C (p.Lys54Thr)	ZC3H6 (K54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234221	NM_198581.3(ZC3H6):c.215A>G (p.His72Arg)	ZC3H6 (H72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334098	NM_198581.3(ZC3H6):c.242C>T (p.Ser81Leu)	ZC3H6 (S81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192412	NM_198581.3(ZC3H6):c.302G>A (p.Gly101Asp)	ZC3H6 (G101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244268	NM_198581.3(ZC3H6):c.314A>G (p.Asp105Gly)	ZC3H6 (D105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334104	NM_198581.3(ZC3H6):c.329T>G (p.Phe110Cys)	ZC3H6 (F110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336263	NM_198581.3(ZC3H6):c.338G>A (p.Arg113His)	ZC3H6 (R113H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400461	NM_198581.3(ZC3H6):c.445G>A (p.Gly149Ser)	ZC3H6 (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192414	NM_198581.3(ZC3H6):c.469G>T (p.Gly157Cys)	ZC3H6 (G157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192415	NM_198581.3(ZC3H6):c.479G>T (p.Gly160Val)	ZC3H6 (G160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651273	NM_198581.3(ZC3H6):c.525G>A (p.Arg175=)	ZC3H6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192416	NM_198581.3(ZC3H6):c.539C>T (p.Thr180Ile)	ZC3H6 (T180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334096	NM_198581.3(ZC3H6):c.632A>G (p.Lys211Arg)	ZC3H6 (K211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484797	NM_198581.3(ZC3H6):c.655C>T (p.Arg219Cys)	ZC3H6 (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337365	NM_198581.3(ZC3H6):c.658G>A (p.Gly220Ser)	ZC3H6 (G220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334101	NM_198581.3(ZC3H6):c.659G>A (p.Gly220Asp)	ZC3H6 (G220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334099	NM_198581.3(ZC3H6):c.763A>G (p.Lys255Glu)	ZC3H6 (K255E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326293	NM_198581.3(ZC3H6):c.775G>T (p.Val259Phe)	ZC3H6 (V259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226867	NM_198581.3(ZC3H6):c.829A>G (p.Ile277Val)	ZC3H6 (I277V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606587	NM_198581.3(ZC3H6):c.871C>A (p.Gln291Lys)	ZC3H6 (Q291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293365	NM_198581.3(ZC3H6):c.908G>A (p.Arg303Lys)	ZC3H6 (R303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192418	NM_198581.3(ZC3H6):c.923A>G (p.Lys308Arg)	ZC3H6 (K308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483488	NM_198581.3(ZC3H6):c.1342C>T (p.Pro448Ser)	ZC3H6 (P448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318146	NM_198581.3(ZC3H6):c.1370C>A (p.Pro457Gln)	ZC3H6 (P457Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192403	NM_198581.3(ZC3H6):c.1416C>G (p.Ile472Met)	ZC3H6 (I472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396284	NM_198581.3(ZC3H6):c.1418A>G (p.Tyr473Cys)	ZC3H6 (Y473C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261963	NM_198581.3(ZC3H6):c.1433G>A (p.Ser478Asn)	ZC3H6 (S478N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192404	NM_198581.3(ZC3H6):c.1444G>A (p.Gly482Arg)	ZC3H6 (G482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280212	NM_198581.3(ZC3H6):c.1568C>T (p.Pro523Leu)	ZC3H6 (P523L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334100	NM_198581.3(ZC3H6):c.1594G>A (p.Ala532Thr)	ZC3H6 (A532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455141	NM_198581.3(ZC3H6):c.1663G>A (p.Gly555Ser)	ZC3H6 (G555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192405	NM_198581.3(ZC3H6):c.1664G>A (p.Gly555Asp)	ZC3H6 (G555D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518601	NM_198581.3(ZC3H6):c.1754A>G (p.Asn585Ser)	ZC3H6 (N585S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529955	NM_198581.3(ZC3H6):c.1756A>G (p.Thr586Ala)	ZC3H6 (T586A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615661	NM_198581.3(ZC3H6):c.1768T>C (p.Ser590Pro)	ZC3H6 (S590P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352486	NM_198581.3(ZC3H6):c.1828T>G (p.Phe610Val)	ZC3H6 (F610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192407	NM_198581.3(ZC3H6):c.1907C>T (p.Ser636Leu)	ZC3H6 (S636L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392568	NM_198581.3(ZC3H6):c.1958G>A (p.Gly653Asp)	ZC3H6 (G653D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192408	NM_198581.3(ZC3H6):c.2107T>G (p.Ser703Ala)	ZC3H6 (S703A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651274	NM_198581.3(ZC3H6):c.2121G>A (p.Glu707=)	ZC3H6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303588	NM_198581.3(ZC3H6):c.2152A>G (p.Lys718Glu)	ZC3H6 (K718E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475718	NM_198581.3(ZC3H6):c.2206G>C (p.Glu736Gln)	ZC3H6 (E736Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192409	NM_198581.3(ZC3H6):c.2221A>G (p.Thr741Ala)	ZC3H6 (T741A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412543	NM_198581.3(ZC3H6):c.2452C>T (p.His818Tyr)	ZC3H6 (H818Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472724	NM_198581.3(ZC3H6):c.2453A>G (p.His818Arg)	ZC3H6 (H818R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495558	NM_198581.3(ZC3H6):c.2590A>G (p.Met864Val)	ZC3H6 (M864V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192410	NM_198581.3(ZC3H6):c.2686T>G (p.Ser896Ala)	ZC3H6 (S896A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280213	NM_198581.3(ZC3H6):c.2692A>G (p.Ile898Val)	ZC3H6 (I898V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192411	NM_198581.3(ZC3H6):c.2708C>A (p.Pro903His)	ZC3H6 (P903H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493987	NM_198581.3(ZC3H6):c.2860C>T (p.His954Tyr)	ZC3H6 (H954Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241127	NM_198581.3(ZC3H6):c.2941T>G (p.Ser981Ala)	ZC3H6 (S981A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336327	NM_198581.3(ZC3H6):c.2956A>T (p.Met986Leu)	ZC3H6 (M986L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334103	NM_198581.3(ZC3H6):c.3050G>A (p.Gly1017Asp)	ZC3H6 (G1017D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243824	NM_198581.3(ZC3H6):c.3154A>G (p.Arg1052Gly)	ZC3H6 (R1052G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192413	NM_198581.3(ZC3H6):c.3210C>G (p.Asn1070Lys)	ZC3H6 (N1070K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382775	NM_198581.3(ZC3H6):c.3344C>T (p.Ala1115Val)	ZC3H6 (A1115V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294766	NM_198581.3(ZC3H6):c.3379C>G (p.Pro1127Ala)	ZC3H6 (P1127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334102	NM_198581.3(ZC3H6):c.3476C>T (p.Pro1159Leu)	ZC3H6 (P1159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544660	NM_198581.3(ZC3H6):c.3485A>T (p.Asp1162Val)	ZC3H6 (D1162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932706	NM_198581.3(ZC3H6):c.3507A>G (p.Thr1169=)	ZC3H6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	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 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

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