ClinVar for Gene (Select 8310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262342	NM_003501.3(ACOX3):c.994A>T (p.Thr332Ser)	ACOX3 (T332S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262333	NM_003501.3(ACOX3):c.117G>A (p.Thr39=)	ACOX3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3262323	NM_003501.3(ACOX3):c.23G>A (p.Gly8Asp)	ACOX3 (G8D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262313	NM_003501.3(ACOX3):c.781G>T (p.Ala261Ser)	ACOX3 (A237S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262302	NM_003501.3(ACOX3):c.1576C>G (p.Leu526Val)	ACOX3 (L431V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262294	NM_003501.3(ACOX3):c.1675G>C (p.Ala559Pro)	ACOX3 (A559P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262285	NM_003501.3(ACOX3):c.692G>C (p.Arg231Pro)	ACOX3 (R136P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262278	NM_003501.3(ACOX3):c.1837T>A (p.Phe613Ile)	ACOX3 (F518I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262269	NM_003501.3(ACOX3):c.1933G>A (p.Ala645Thr)	ACOX3 (R622H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262258	NM_003501.3(ACOX3):c.1268G>T (p.Arg423Leu)	ACOX3 (R423L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262247	NM_003501.3(ACOX3):c.1754G>A (p.Arg585Gln)	ACOX3 (R585Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262236	NM_003501.3(ACOX3):c.997C>T (p.Arg333Trp)	ACOX3 (R238W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262228	NM_003501.3(ACOX3):c.489C>A (p.His163Gln)	ACOX3 (H139Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262219	NM_003501.3(ACOX3):c.1388A>G (p.Asn463Ser)	ACOX3 (N463S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262210	NM_003501.3(ACOX3):c.1306C>T (p.Arg436Trp)	ACOX3 (R341W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262205	NM_003501.3(ACOX3):c.784A>G (p.Met262Val)	ACOX3 (M238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262201	NM_003501.3(ACOX3):c.4G>A (p.Ala2Thr)	ACOX3 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3138530	NM_003501.3(ACOX3):c.886C>G (p.Arg296Gly)	ACOX3 (R201G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138521	NM_003501.3(ACOX3):c.872A>C (p.Lys291Thr)	ACOX3 (K196T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138513	NM_003501.3(ACOX3):c.808C>T (p.Arg270Cys)	ACOX3 (R175C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138496	NM_003501.3(ACOX3):c.718C>T (p.Pro240Ser)	ACOX3 (P145S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138491	NM_003501.3(ACOX3):c.698C>T (p.Pro233Leu)	ACOX3 (P138L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138475	NM_003501.3(ACOX3):c.491G>A (p.Gly164Asp)	ACOX3 (G140D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138461	NM_003501.3(ACOX3):c.250C>T (p.Arg84Trp)	ACOX3 (R84W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138458	NM_003501.3(ACOX3):c.242G>A (p.Arg81Gln)	ACOX3 (R81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138450	NM_003501.3(ACOX3):c.2036G>A (p.Arg679Gln)	ACOX3 (R679Q +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3138445	NM_003501.3(ACOX3):c.2035C>T (p.Arg679Trp)	ACOX3 (R655W +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3138425	NM_003501.3(ACOX3):c.188G>A (p.Arg63His)	ACOX3 (R63H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138405	NM_003501.3(ACOX3):c.1714C>T (p.His572Tyr)	ACOX3 (H477Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138400	NM_003501.3(ACOX3):c.1676C>T (p.Ala559Val)	ACOX3 (A464V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138383	NM_003501.3(ACOX3):c.1439G>A (p.Arg480His)	ACOX3 (R385H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138379	NM_003501.3(ACOX3):c.1424A>T (p.Asp475Val)	ACOX3 (D380V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138370	NM_003501.3(ACOX3):c.1204G>A (p.Ala402Thr)	ACOX3 (A307T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138357	NM_003501.3(ACOX3):c.1129C>G (p.Leu377Val)	ACOX3 (L282V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138354	NM_003501.3(ACOX3):c.1115C>T (p.Ser372Leu)	ACOX3 (S277L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138344	NM_003501.3(ACOX3):c.1058A>G (p.Gln353Arg)	ACOX3 (Q258R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3026440	NM_003501.3(ACOX3):c.259G>C (p.Glu87Gln)	ACOX3 (E87Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024969	NM_003501.3(ACOX3):c.445A>G (p.Arg149Gly)	ACOX3 (R125G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685958	GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685103	GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1	ACOX3, CPZ +2 more	Copy number loss	not provided	GUncertain significance
Select item 2654657	NM_003501.3(ACOX3):c.1236G>A (p.Ser412=)	ACOX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654656	NM_003501.3(ACOX3):c.1404C>T (p.Leu468=)	ACOX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654655	NM_003501.3(ACOX3):c.1848G>A (p.Glu616=)	ACOX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620043	NM_003501.3(ACOX3):c.1917C>T (p.Ala639=)	ACOX3 (P617S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2614657	NM_003501.3(ACOX3):c.1925A>C (p.Asp642Ala)	ACOX3 (D618A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602022	NM_003501.3(ACOX3):c.107C>T (p.Ala36Val)	ACOX3 (A36V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2568498	NM_003501.3(ACOX3):c.313G>A (p.Ala105Thr)	ACOX3 (A10T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555471	NM_003501.3(ACOX3):c.1981G>A (p.Glu661Lys)	ACOX3 (E566K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2542042	NM_003501.3(ACOX3):c.1753C>T (p.Arg585Trp)	ACOX3 (R490W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528871	NM_003501.3(ACOX3):c.1747T>G (p.Ser583Ala)	ACOX3 (S583A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523292	NM_003501.3(ACOX3):c.1810G>T (p.Ala604Ser)	ACOX3 (A509S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508081	NM_003501.3(ACOX3):c.934G>A (p.Val312Met)	ACOX3 (V288M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480322	NM_003501.3(ACOX3):c.1613G>A (p.Arg538Lys)	ACOX3 (R514K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475553	NM_003501.3(ACOX3):c.546A>T (p.Glu182Asp)	ACOX3 (E158D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467275	NM_003501.3(ACOX3):c.877G>A (p.Val293Ile)	ACOX3 (V293I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466816	NM_003501.3(ACOX3):c.740T>C (p.Ile247Thr)	ACOX3 (I152T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457441	NM_003501.3(ACOX3):c.1876G>A (p.Val626Ile)	ACOX3 (V602I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406840	NM_003501.3(ACOX3):c.1663G>A (p.Gly555Ser)	ACOX3 (G531S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392384	NM_003501.3(ACOX3):c.130A>C (p.Met44Leu)	ACOX3 (M44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385627	NM_003501.3(ACOX3):c.923G>A (p.Arg308Gln)	ACOX3 (R308Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379331	NM_003501.3(ACOX3):c.370C>T (p.His124Tyr)	ACOX3 (H29Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378000	NM_003501.3(ACOX3):c.1145G>A (p.Arg382Gln)	ACOX3 (R358Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370188	NM_003501.3(ACOX3):c.1534G>A (p.Ala512Thr)	ACOX3 (A488T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363783	NM_003501.3(ACOX3):c.1666C>T (p.Arg556Cys)	ACOX3 (R461C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357298	NM_003501.3(ACOX3):c.887G>A (p.Arg296His)	ACOX3 (R201H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356184	NM_003501.3(ACOX3):c.854C>T (p.Thr285Ile)	ACOX3 (T261I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344794	NM_003501.3(ACOX3):c.2060C>T (p.Ser687Phe)	ACOX3 (S577F +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2338448	NM_003501.3(ACOX3):c.1574T>C (p.Leu525Pro)	ACOX3 (L430P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331050	NM_003501.3(ACOX3):c.763G>A (p.Gly255Ser)	ACOX3 (G255S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320369	NM_003501.3(ACOX3):c.185C>T (p.Ala62Val)	ACOX3 (A62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316603	NM_003501.3(ACOX3):c.766C>A (p.Leu256Met)	ACOX3 (L232M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305428	NM_003501.3(ACOX3):c.1663G>C (p.Gly555Arg)	ACOX3 (G555R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280697	NM_003501.3(ACOX3):c.92G>A (p.Ser31Asn)	ACOX3 (S31N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277186	NM_003501.3(ACOX3):c.1165C>T (p.Arg389Cys)	ACOX3 (R389C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270131	NM_003501.3(ACOX3):c.2002G>A (p.Gly668Ser)	ACOX3 (G573S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2259790	NM_003501.3(ACOX3):c.74G>A (p.Arg25Gln)	ACOX3 (R25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253065	NM_003501.3(ACOX3):c.452A>T (p.Glu151Val)	ACOX3 (E151V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244985	NM_003501.3(ACOX3):c.1267C>T (p.Arg423Trp)	ACOX3 (R328W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222367	NM_003501.3(ACOX3):c.1769G>A (p.Arg590Gln)	ACOX3 (R566Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218035	NM_003501.3(ACOX3):c.598A>G (p.Met200Val)	ACOX3 (M105V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216290	NM_003501.3(ACOX3):c.511C>G (p.Arg171Gly)	ACOX3 (R147G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211757	NM_003501.3(ACOX3):c.529G>A (p.Asp177Asn)	ACOX3 (D153N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207750	NM_003501.3(ACOX3):c.1093G>A (p.Ala365Thr)	ACOX3 (A270T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808808	GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3	ACOX3, CPZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic

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