Acsf3 Variant Search Result - Rat Genome Database

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996 records found for search term Acsf3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
408378284	CV3511784	single nucleotide variant	NM_001243279.3(ACSF3):c.*3C>G	ACSF3-related disorder [RCV004752203]	likely benign	16	89154210	89154210	Human		name , trait , alternate_id
40905267	CV979820	single nucleotide variant	NM_001243279.3(ACSF3):c.-8T>A	Combined malonic and methylmalonic acidemia [RCV002480899]\|Methylmalonic acidemia [RCV001278418]	uncertain significance	16	89100674	89100674	Human	3	name
40906964	CV979873	single nucleotide variant	NM_001243279.3(ACSF3):c.*4G>A	ACSF3-related disorder [RCV003973176]\|Methylmalonic acidemia [RCV001280424]	likely benign\|uncertain significance	16	89154211	89154211	Human	3	name , trait , alternate_id
150451100	CV1220816	single nucleotide variant	NM_001243279.3(ACSF3):c.*73C>T	not provided [RCV001611910]	benign	16	89154280	89154280	Human		name
150535411	CV1311879	single nucleotide variant	NM_001243279.3(ACSF3):c.*66G>T	not provided [RCV001779689]	likely benign	16	89154273	89154273	Human		name
12846316	CV374713	single nucleotide variant	NM_001243279.3(ACSF3):c.-29G>C	not specified [RCV000441415]	likely benign	16	89098755	89098755	Human		name
12834751	CV375615	single nucleotide variant	NM_001243279.3(ACSF3):c.-23T>C	not provided [RCV000420499]	uncertain significance	16	89098761	89098761	Human		name
12847319	CV375759	single nucleotide variant	NM_001243279.3(ACSF3):c.-22G>C	not specified [RCV000443272]	likely benign	16	89098762	89098762	Human		name
12836667	CV377897	single nucleotide variant	NM_001243279.3(ACSF3):c.-15C>G	not specified [RCV000423811]	likely benign	16	89100667	89100667	Human		name
13535635	CV506081	single nucleotide variant	NM_001243279.3(ACSF3):c.-30C>A	not specified [RCV000602479]	likely benign	16	89098754	89098754	Human		name
14744298	CV656392	single nucleotide variant	NM_001243279.3(ACSF3):c.-36C>T	not provided [RCV000842661]	likely benign	16	89098748	89098748	Human		name
14743708	CV656393	single nucleotide variant	NM_001243279.3(ACSF3):c.-30C>G	not provided [RCV000842246]	likely benign	16	89098754	89098754	Human		name
40905266	CV979819	single nucleotide variant	NM_001243279.3(ACSF3):c.-10T>G	Methylmalonic acidemia [RCV001278417]	uncertain significance	16	89100672	89100672	Human	2	name
40906965	CV979874	single nucleotide variant	NM_001243279.3(ACSF3):c.*10C>T	ACSF3-related disorder [RCV003892167]\|Methylmalonic acidemia [RCV001280425]	likely benign\|uncertain significance	16	89154217	89154217	Human	3	name , trait , alternate_id
150339626	CV1167671	single nucleotide variant	NM_001243279.3(ACSF3):c.*265C>A	not provided [RCV001534385]	benign	16	89154472	89154472	Human		name
150447042	CV1216050	single nucleotide variant	NM_001243279.3(ACSF3):c.*231G>A	not provided [RCV001611348]	benign	16	89154438	89154438	Human		name
150438041	CV1237969	single nucleotide variant	NM_001243279.3(ACSF3):c.-269C>G	not provided [RCV001644467]	benign	16	89093921	89093921	Human		name
150505595	CV1286231	single nucleotide variant	NM_001243279.3(ACSF3):c.-315C>G	not provided [RCV001719656]	benign	16	89093875	89093875	Human		name
12841350	CV374704	single nucleotide variant	NM_001243279.3(ACSF3):c.-187C>T	not provided [RCV001703764]	likely benign	16	89098597	89098597	Human		name
127250219	CV1056359	single nucleotide variant	NM_001243279.3(ACSF3):c.978-1G>A	Combined malonic and methylmalonic acidemia [RCV001378316]	likely pathogenic	16	89114338	89114338	Human	1	name
127272428	CV1104350	single nucleotide variant	NM_001243279.3(ACSF3):c.823-8C>G	Combined malonic and methylmalonic acidemia [RCV001431278]	likely benign	16	89112084	89112084	Human	1	name
127325520	CV1125765	single nucleotide variant	NM_001243279.3(ACSF3):c.823-4G>A	Combined malonic and methylmalonic acidemia [RCV001468531]	likely benign	16	89112088	89112088	Human	1	name
127331461	CV1125770	single nucleotide variant	NM_001243279.3(ACSF3):c.978-4G>A	Combined malonic and methylmalonic acidemia [RCV001471593]	likely benign	16	89114335	89114335	Human	1	name
127311896	CV1146644	single nucleotide variant	NM_001243279.3(ACSF3):c.667-7C>T	Combined malonic and methylmalonic acidemia [RCV001481563]	likely benign	16	89102597	89102597	Human	1	name
127328291	CV1146649	single nucleotide variant	NM_001243279.3(ACSF3):c.978-6G>T	Combined malonic and methylmalonic acidemia [RCV001486720]	likely benign	16	89114333	89114333	Human	1	name
150543949	CV1313057	single nucleotide variant	NM_001243279.3(ACSF3):c.666+1G>A	Combined malonic and methylmalonic acidemia [RCV001783134]	pathogenic\|likely pathogenic	16	89101348	89101348	Human	1	name
151891451	CV1347062	single nucleotide variant	NM_001243279.3(ACSF3):c.977+1G>C	Combined malonic and methylmalonic acidemia [RCV002039124]	likely pathogenic	16	89112247	89112247	Human	1	name
8690021	CV139971	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-4C>G	Combined malonic and methylmalonic acidemia [RCV001533783]\|not provided [RCV004709299]	benign	16	89100658	89100658	Human	1	name
151841265	CV1462840	single nucleotide variant	NM_001243279.3(ACSF3):c.822+1G>A	Combined malonic and methylmalonic acidemia [RCV002015363]	likely pathogenic	16	89102760	89102760	Human	1	name
151756299	CV1517043	single nucleotide variant	NM_001243279.3(ACSF3):c.822+2T>C	Combined malonic and methylmalonic acidemia [RCV002043777]	likely pathogenic	16	89102761	89102761	Human	1	name
156256121	CV1894317	single nucleotide variant	NM_001243279.3(ACSF3):c.978-2A>G	Combined malonic and methylmalonic acidemia [RCV003086280]	likely pathogenic	16	89114337	89114337	Human	1	name
156340097	CV1902623	single nucleotide variant	NM_001243279.3(ACSF3):c.977+1G>A	Combined malonic and methylmalonic acidemia [RCV003090313]	likely pathogenic	16	89112247	89112247	Human	1	name
156307675	CV1912696	single nucleotide variant	NM_001243279.3(ACSF3):c.667-9C>A	Combined malonic and methylmalonic acidemia [RCV002599482]	likely benign	16	89102595	89102595	Human	1	name
156414458	CV1986666	single nucleotide variant	NM_001243279.3(ACSF3):c.667-2A>G	Combined malonic and methylmalonic acidemia [RCV002609209]	likely pathogenic	16	89102602	89102602	Human	1	name
155934410	CV2061034	single nucleotide variant	NM_001243279.3(ACSF3):c.978-8C>T	Combined malonic and methylmalonic acidemia [RCV002815264]	likely benign	16	89114331	89114331	Human	1	name
156013558	CV2133810	single nucleotide variant	NM_001243279.3(ACSF3):c.667-1G>T	Combined malonic and methylmalonic acidemia [RCV003017872]	likely pathogenic	16	89102603	89102603	Human	1	name
156213174	CV2176406	single nucleotide variant	NM_001243279.3(ACSF3):c.666+1G>T	Combined malonic and methylmalonic acidemia [RCV003024886]	likely pathogenic	16	89101348	89101348	Human	1	name
401948359	CV2838977	single nucleotide variant	NM_001243279.3(ACSF3):c.977+1G>T	Combined malonic and methylmalonic acidemia [RCV003466676]	likely pathogenic	16	89112247	89112247	Human	1	name
402486151	CV2949487	single nucleotide variant	NM_001243279.3(ACSF3):c.667-6C>G	Combined malonic and methylmalonic acidemia [RCV003643228]	likely benign	16	89102598	89102598	Human	1	name
402489689	CV2973055	single nucleotide variant	NM_001243279.3(ACSF3):c.667-4G>A	Combined malonic and methylmalonic acidemia [RCV003643697]	likely benign	16	89102600	89102600	Human	1	name
402495514	CV3014417	single nucleotide variant	NM_001243279.3(ACSF3):c.823-7T>A	Combined malonic and methylmalonic acidemia [RCV003644324]	likely benign	16	89112085	89112085	Human	1	name
402478891	CV3050123	single nucleotide variant	NM_001243279.3(ACSF3):c.823-1G>A	Combined malonic and methylmalonic acidemia [RCV003642471]	likely pathogenic	16	89112091	89112091	Human	1	name
405222213	CV3158234	single nucleotide variant	NM_001243279.3(ACSF3):c.667-9C>G	Combined malonic and methylmalonic acidemia [RCV003863730]	likely benign	16	89102595	89102595	Human	1	name
408378514	CV3512224	single nucleotide variant	NM_001243279.3(ACSF3):c.978-5C>A	ACSF3-related disorder [RCV004752226]	uncertain significance	16	89114334	89114334	Human		name , trait , alternate_id
597714153	CV3715867	single nucleotide variant	NM_001243279.3(ACSF3):c.977+2T>C	Combined malonic and methylmalonic acidemia [RCV005010053]	likely pathogenic	16	89112248	89112248	Human	1	name
12845829	CV374719	single nucleotide variant	NM_001243279.3(ACSF3):c.978-7C>T	ACSF3-related disorder [RCV003942427]\|Combined malonic and methylmalonic acidemia [RCV000953568]\|not provided [RCV004567922]\|not specified [RCV000440521]	likely benign	16	89114332	89114332	Human	1	name , trait , alternate_id
12836320	CV375761	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-6C>G	not provided [RCV001721318]	likely benign	16	89100656	89100656	Human		name
12832900	CV375783	single nucleotide variant	NM_001243279.3(ACSF3):c.978-6G>A	Combined malonic and methylmalonic acidemia [RCV000649673]\|not specified [RCV000417470]	likely benign	16	89114333	89114333	Human	1	name
597959094	CV3848601	single nucleotide variant	NM_001243279.3(ACSF3):c.822+9G>C	Combined malonic and methylmalonic acidemia [RCV005192302]	likely benign	16	89102768	89102768	Human	1	name
13437126	CV433339	single nucleotide variant	NM_001243279.3(ACSF3):c.823-6T>C	Combined malonic and methylmalonic acidemia [RCV000508337]	benign	16	89112086	89112086	Human	1	name
15167731	CV744896	single nucleotide variant	NM_001243279.3(ACSF3):c.823-4G>C	ACSF3-related disorder [RCV003950635]\|Combined malonic and methylmalonic acidemia [RCV000904710]	likely benign	16	89112088	89112088	Human	1	name , trait , alternate_id
15149943	CV744945	single nucleotide variant	NM_001243279.3(ACSF3):c.667-9C>T	ACSF3-related disorder [RCV003922963]\|Combined malonic and methylmalonic acidemia [RCV000901043]	likely benign	16	89102595	89102595	Human	1	name , trait , alternate_id
15193794	CV760503	single nucleotide variant	NM_001243279.3(ACSF3):c.978-5C>T	Combined malonic and methylmalonic acidemia [RCV001442639]	likely benign	16	89114334	89114334	Human	1	name
15134618	CV776412	single nucleotide variant	NM_001243279.3(ACSF3):c.823-5C>T	Combined malonic and methylmalonic acidemia [RCV000942778]	likely benign	16	89112087	89112087	Human	1	name
15132851	CV776598	single nucleotide variant	NM_001243279.3(ACSF3):c.666+9C>T	Combined malonic and methylmalonic acidemia [RCV000942471]	likely benign	16	89101356	89101356	Human	1	name
127243025	CV1056361	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+1G>A	Combined malonic and methylmalonic acidemia [RCV001377030]	likely pathogenic	16	89114488	89114488	Human	1	name
127241844	CV1082560	single nucleotide variant	NM_001243279.3(ACSF3):c.822+10G>C	Combined malonic and methylmalonic acidemia [RCV001393241]	likely benign	16	89102769	89102769	Human	1	name
127244514	CV1082564	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-7C>A	Combined malonic and methylmalonic acidemia [RCV001393725]	likely benign	16	89120794	89120794	Human	1	name
127238536	CV1082567	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+8A>T	Combined malonic and methylmalonic acidemia [RCV001392491]	likely benign	16	89120921	89120921	Human	1	name
127266502	CV1082570	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-8A>G	Combined malonic and methylmalonic acidemia [RCV001403887]	likely benign	16	89145930	89145930	Human	1	name
127247916	CV1104361	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+9C>T	Combined malonic and methylmalonic acidemia [RCV001435711]	likely benign	16	89133271	89133271	Human	1	name
127295013	CV1125763	single nucleotide variant	NM_001243279.3(ACSF3):c.666+10G>A	Combined malonic and methylmalonic acidemia [RCV001459632]	likely benign	16	89101357	89101357	Human	1	name
127300757	CV1125778	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-4G>A	Combined malonic and methylmalonic acidemia [RCV001461168]	likely benign	16	89120797	89120797	Human	1	name
127324803	CV1125783	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-4T>A	Combined malonic and methylmalonic acidemia [RCV001468284]	likely benign	16	89145263	89145263	Human	1	name
127334059	CV1125788	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+9G>T	Combined malonic and methylmalonic acidemia [RCV001473353]	likely benign	16	89146058	89146058	Human	1	name
150338783	CV1167113	single nucleotide variant	NM_001243279.3(ACSF3):c.666+37C>T	Combined malonic and methylmalonic acidemia [RCV001533599]\|not provided [RCV001673140]	benign	16	89101384	89101384	Human	1	name
150338786	CV1167115	single nucleotide variant	NM_001243279.3(ACSF3):c.667-77G>C	Combined malonic and methylmalonic acidemia [RCV001533601]\|not provided [RCV001595095]	benign	16	89102527	89102527	Human	1	name
150338788	CV1167116	single nucleotide variant	NM_001243279.3(ACSF3):c.667-31T>C	Combined malonic and methylmalonic acidemia [RCV001533602]\|not provided [RCV001655822]	benign	16	89102573	89102573	Human	1	name
150338790	CV1167117	single nucleotide variant	NM_001243279.3(ACSF3):c.822+38C>G	Combined malonic and methylmalonic acidemia [RCV001533603]\|not provided [RCV001685446]	benign	16	89102797	89102797	Human	1	name
150404657	CV1178992	single nucleotide variant	NM_001243279.3(ACSF3):c.978-83C>G	Combined malonic and methylmalonic acidemia [RCV001549048]\|not provided [RCV001673187]	benign	16	89114256	89114256	Human	1	name
150432641	CV1200731	single nucleotide variant	NM_001243279.3(ACSF3):c.666+52G>A	not provided [RCV001581454]	likely benign	16	89101399	89101399	Human		name
150462861	CV1214704	single nucleotide variant	NM_001243279.3(ACSF3):c.666+73C>T	not provided [RCV001613697]	benign	16	89101420	89101420	Human		name
150453909	CV1219900	single nucleotide variant	NM_001243279.3(ACSF3):c.978-52C>T	not provided [RCV001612281]	benign	16	89114287	89114287	Human	2	name
150453909	CV1219900	single nucleotide variant	NM_001243279.3(ACSF3):c.978-52C>T	not provided [RCV001612281]	benign	16	89114287	89114288	Human	2	name
150493899	CV1238761	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-21C>A	not provided [RCV001655305]	benign	16	89100641	89100641	Human		name
150473015	CV1272584	single nucleotide variant	NM_001243279.3(ACSF3):c.823-52C>T	not provided [RCV001695640]	benign	16	89112040	89112040	Human		name
150483907	CV1280312	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-82G>A	not provided [RCV001715267]	benign	16	89100580	89100580	Human	2	name
150483907	CV1280312	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-82G>A	not provided [RCV001715267]	benign	16	89100580	89100581	Human	2	name
150535892	CV1312087	single nucleotide variant	NM_001243279.3(ACSF3):c.822+22C>T	not provided [RCV001779899]	likely benign	16	89102781	89102781	Human		name
8690030	CV139980	single nucleotide variant	NM_001243279.3(ACSF3):c.667-12C>T	Combined malonic and methylmalonic acidemia [RCV001515889]\|not provided [RCV004709308]\|not specified [RCV000123497]	benign	16	89102592	89102592	Human	1	name
151799958	CV1479941	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+1G>A	Combined malonic and methylmalonic acidemia [RCV001898971]	pathogenic\|likely pathogenic	16	89146050	89146050	Human	1	name
151859185	CV1484630	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+2T>C	Combined malonic and methylmalonic acidemia [RCV001958998]	pathogenic	16	89146051	89146051	Human	1	name
151847129	CV1514882	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+9C>G	Combined malonic and methylmalonic acidemia [RCV001978433]	likely benign	16	89133271	89133271	Human	1	name
152152426	CV1545880	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-8C>G	Combined malonic and methylmalonic acidemia [RCV002179658]	likely benign	16	89154082	89154082	Human	1	name
152074742	CV1630329	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-8C>T	Combined malonic and methylmalonic acidemia [RCV002169756]	likely benign	16	89154082	89154082	Human	1	name
152113139	CV1659399	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+7C>T	Combined malonic and methylmalonic acidemia [RCV002080525]	likely benign	16	89146056	89146056	Human	1	name
155945046	CV1875310	single nucleotide variant	NM_001243279.3(ACSF3):c.666+17G>A	Combined malonic and methylmalonic acidemia [RCV003073791]	likely benign	16	89101364	89101364	Human	1	name
156394573	CV1876417	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+4C>T	Combined malonic and methylmalonic acidemia [RCV003068437]	uncertain significance	16	89145405	89145405	Human	1	name
156236112	CV1882113	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+5G>A	Combined malonic and methylmalonic acidemia [RCV003085568]	uncertain significance	16	89114492	89114492	Human	1	name
156020957	CV1882304	single nucleotide variant	NM_001243279.3(ACSF3):c.666+10G>T	Combined malonic and methylmalonic acidemia [RCV003077617]	likely benign	16	89101357	89101357	Human	1	name
156132870	CV1914255	single nucleotide variant	NM_001243279.3(ACSF3):c.823-19T>C	Combined malonic and methylmalonic acidemia [RCV002623376]	likely benign	16	89112073	89112073	Human	1	name
156396979	CV1925092	duplication	NM_001243279.3(ACSF3):c.822+12dup	Combined malonic and methylmalonic acidemia [RCV002655011]	likely benign	16	89102770	89102771	Human	1	name
156344392	CV1958092	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+1G>T	Combined malonic and methylmalonic acidemia [RCV002580689]	likely pathogenic	16	89145402	89145402	Human	1	name
156278823	CV2053726	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-1G>C	Combined malonic and methylmalonic acidemia [RCV002806919]	likely pathogenic	16	89133135	89133135	Human	1	name
156289505	CV2058479	single nucleotide variant	NM_001243279.3(ACSF3):c.823-18G>T	Combined malonic and methylmalonic acidemia [RCV002833140]	likely benign	16	89112074	89112074	Human	1	name
155975637	CV2088894	single nucleotide variant	NM_001243279.3(ACSF3):c.667-10T>C	Combined malonic and methylmalonic acidemia [RCV002863518]	likely benign	16	89102594	89102594	Human	1	name
156022221	CV2111117	single nucleotide variant	NM_001243279.3(ACSF3):c.666+12C>T	Combined malonic and methylmalonic acidemia [RCV002909667]	likely benign	16	89101359	89101359	Human	1	name
156034868	CV2128104	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+5G>C	Combined malonic and methylmalonic acidemia [RCV002923672]\|not specified [RCV005239556]	uncertain significance	16	89114492	89114492	Human	1	name
156210410	CV2160465	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+1G>A	Combined malonic and methylmalonic acidemia [RCV003042309]	likely pathogenic	16	89133263	89133263	Human	1	name
156336901	CV2190030	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+7C>T	Combined malonic and methylmalonic acidemia [RCV003064017]	likely benign	16	89120920	89120920	Human	1	name
156067212	CV2221782	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+3A>G	Inborn genetic diseases [RCV002737157]\|not specified [RCV004690380]	uncertain significance	16	89133265	89133265	Human	1	name
243052730	CV2409704	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-2A>G	Combined malonic and methylmalonic acidemia [RCV003143976]	likely pathogenic	16	89154088	89154088	Human	1	name
401723235	CV2738113	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+2T>G	Combined malonic and methylmalonic acidemia [RCV003315470]	pathogenic	16	89120915	89120915	Human	1	name
401941112	CV2838825	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-1G>A	Combined malonic and methylmalonic acidemia [RCV003460358]	likely pathogenic	16	89133135	89133135	Human	1	name
401949627	CV2838863	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+1G>A	Combined malonic and methylmalonic acidemia [RCV003474488]	likely pathogenic	16	89145402	89145402	Human	1	name
401949669	CV2838866	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+1G>T	Combined malonic and methylmalonic acidemia [RCV003474491]	likely pathogenic	16	89133263	89133263	Human	1	name
401949697	CV2838915	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+1G>A	Combined malonic and methylmalonic acidemia [RCV003474540]	likely pathogenic	16	89120914	89120914	Human	1	name
405021212	CV2860526	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-7T>C	Combined malonic and methylmalonic acidemia [RCV003528509]	likely benign	16	89154083	89154083	Human	1	name
405026737	CV2876188	single nucleotide variant	NM_001243279.3(ACSF3):c.667-14C>T	Combined malonic and methylmalonic acidemia [RCV003529051]	likely benign	16	89102590	89102590	Human	1	name
405026595	CV2879591	single nucleotide variant	NM_001243279.3(ACSF3):c.978-19C>T	Combined malonic and methylmalonic acidemia [RCV003529040]	likely benign	16	89114320	89114320	Human	1	name
405035107	CV2912881	single nucleotide variant	NM_001243279.3(ACSF3):c.977+18A>G	Combined malonic and methylmalonic acidemia [RCV003529768]	likely benign	16	89112264	89112264	Human	1	name
405035047	CV2915758	single nucleotide variant	NM_001243279.3(ACSF3):c.822+15G>A	Combined malonic and methylmalonic acidemia [RCV003529763]	likely benign	16	89102774	89102774	Human	1	name
405018079	CV2927151	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-2A>T	Combined malonic and methylmalonic acidemia [RCV003527941]	likely pathogenic	16	89120799	89120799	Human	1	name
405018538	CV2930219	single nucleotide variant	NM_001243279.3(ACSF3):c.822+10G>A	Combined malonic and methylmalonic acidemia [RCV003527985]	likely benign	16	89102769	89102769	Human	1	name
402491178	CV2982175	single nucleotide variant	NM_001243279.3(ACSF3):c.978-20C>T	Combined malonic and methylmalonic acidemia [RCV003643848]	likely benign	16	89114319	89114319	Human	1	name
402493387	CV2992955	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-6C>T	Combined malonic and methylmalonic acidemia [RCV003644083]	likely benign	16	89133130	89133130	Human	1	name
402495575	CV3021471	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-1G>C	Combined malonic and methylmalonic acidemia [RCV003644329]	likely pathogenic	16	89145937	89145937	Human	1	name
402478572	CV3042563	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-8T>A	Combined malonic and methylmalonic acidemia [RCV003642430]	likely benign	16	89145259	89145259	Human	1	name
402479852	CV3045862	single nucleotide variant	NM_001243279.3(ACSF3):c.822+16G>C	Combined malonic and methylmalonic acidemia [RCV003642591]	likely benign	16	89102775	89102775	Human	1	name
402478992	CV3046920	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-6C>A	Combined malonic and methylmalonic acidemia [RCV003642483]	likely benign	16	89145932	89145932	Human	1	name
402479087	CV3053960	single nucleotide variant	NM_001243279.3(ACSF3):c.667-19G>A	Combined malonic and methylmalonic acidemia [RCV003642495]	likely benign	16	89102585	89102585	Human	1	name
402479256	CV3054384	single nucleotide variant	NM_001243279.3(ACSF3):c.666+10G>C	Combined malonic and methylmalonic acidemia [RCV003642517]	likely benign	16	89101357	89101357	Human	1	name
402486614	CV3073966	single nucleotide variant	NM_001243279.3(ACSF3):c.667-11G>A	Combined malonic and methylmalonic acidemia [RCV003643378]	likely benign	16	89102593	89102593	Human	1	name
402486830	CV3076663	single nucleotide variant	NM_001243279.3(ACSF3):c.666+16C>T	Combined malonic and methylmalonic acidemia [RCV003643404]	likely benign	16	89101363	89101363	Human	1	name
405169442	CV3122402	single nucleotide variant	NM_001243279.3(ACSF3):c.667-14C>G	Combined malonic and methylmalonic acidemia [RCV003818991]	likely benign	16	89102590	89102590	Human	1	name
405195185	CV3128658	single nucleotide variant	NM_001243279.3(ACSF3):c.666+19C>T	Combined malonic and methylmalonic acidemia [RCV003821396]	likely benign	16	89101366	89101366	Human	1	name
405141685	CV3131265	single nucleotide variant	NM_001243279.3(ACSF3):c.978-19C>G	Combined malonic and methylmalonic acidemia [RCV003839305]	likely benign	16	89114320	89114320	Human	1	name
402510912	CV3178339	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-7T>G	Combined malonic and methylmalonic acidemia [RCV003878956]	likely benign	16	89133129	89133129	Human	1	name
405872442	CV3399950	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-2A>C	Combined malonic and methylmalonic acidemia [RCV004575453]	likely pathogenic	16	89145265	89145265	Human	1	name
597905693	CV3738691	single nucleotide variant	NM_001243279.3(ACSF3):c.666+19C>G	Combined malonic and methylmalonic acidemia [RCV005072925]	likely benign	16	89101366	89101366	Human	1	name
12842134	CV374728	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-6C>T	Combined malonic and methylmalonic acidemia [RCV000970572]\|not provided [RCV004710016]\|not specified [RCV000433873]	benign	16	89145261	89145261	Human	1	name
12841841	CV374736	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-6C>T	Combined malonic and methylmalonic acidemia [RCV000908272]\|not specified [RCV000433306]	likely benign	16	89154084	89154084	Human	1	name
597940930	CV3757307	single nucleotide variant	NM_001243279.3(ACSF3):c.666+12C>A	Combined malonic and methylmalonic acidemia [RCV005077493]	likely benign	16	89101359	89101359	Human	1	name
597942283	CV3757479	single nucleotide variant	NM_001243279.3(ACSF3):c.822+17G>A	Combined malonic and methylmalonic acidemia [RCV005077665]	likely benign	16	89102776	89102776	Human	1	name
12843105	CV375763	single nucleotide variant	NM_001243279.3(ACSF3):c.666+20G>A	Combined malonic and methylmalonic acidemia [RCV002522495]\|not specified [RCV000435623]	benign\|likely benign	16	89101367	89101367	Human	1	name
12836257	CV375793	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+4C>T	Combined malonic and methylmalonic acidemia [RCV000970570]\|not specified [RCV000423083]	benign	16	89114491	89114491	Human	1	name
597856245	CV3758766	single nucleotide variant	NM_001243279.3(ACSF3):c.823-17C>G	Combined malonic and methylmalonic acidemia [RCV005088726]	likely benign	16	89112075	89112075	Human	1	name
597952821	CV3776284	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-8A>C	Combined malonic and methylmalonic acidemia [RCV005121412]	likely benign	16	89145930	89145930	Human	1	name
12833873	CV377896	single nucleotide variant	NM_001243279.3(ACSF3):c.-193-5G>C	not provided [RCV001720037]	likely benign	16	89098586	89098586	Human		name
13436670	CV433338	single nucleotide variant	NM_001243279.3(ACSF3):c.823-26T>C	Combined malonic and methylmalonic acidemia [RCV000507574]\|not provided [RCV004710079]	benign	16	89112066	89112066	Human	1	name
13532932	CV505660	single nucleotide variant	NM_001243279.3(ACSF3):c.822+18C>T	Combined malonic and methylmalonic acidemia [RCV002063052]\|not provided [RCV001722635]	benign\|likely benign	16	89102777	89102777	Human	1	name
13541464	CV506590	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-11C>A	not specified [RCV000616195]	likely benign	16	89100651	89100651	Human		name
13538209	CV506593	single nucleotide variant	NM_001243279.3(ACSF3):c.667-13T>C	Combined malonic and methylmalonic acidemia [RCV001518210]\|not provided [RCV001718997]	benign\|likely benign	16	89102591	89102591	Human	1	name
13537143	CV506600	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+9C>G	Combined malonic and methylmalonic acidemia [RCV000892883]\|not specified [RCV000609990]	likely benign	16	89120922	89120922	Human	1	name
13536571	CV506607	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-5C>T	Combined malonic and methylmalonic acidemia [RCV000975607]\|not specified [RCV000609192]	likely benign	16	89145933	89145933	Human	1	name
13838485	CV589790	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-2A>G	Combined malonic and methylmalonic acidemia [RCV001048461]\|not provided [RCV000735190]	pathogenic\|likely pathogenic	16	89145936	89145936	Human	1	name
15148808	CV731119	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-4G>A	ACSF3-related disorder [RCV003908379]\|Combined malonic and methylmalonic acidemia [RCV000879031]\|Inborn genetic diseases [RCV002539276]	likely benign	16	89145934	89145934	Human	2	name , trait , alternate_id
15151084	CV745259	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-5T>C	Combined malonic and methylmalonic acidemia [RCV000901289]	likely benign	16	89120796	89120796	Human	1	name
15170743	CV779853	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+8T>G	Combined malonic and methylmalonic acidemia [RCV001274047]	likely benign\|uncertain significance	16	89146057	89146057	Human	1	name
15136371	CV787943	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-7C>G	Combined malonic and methylmalonic acidemia [RCV000982100]	likely benign	16	89120794	89120794	Human	1	name
15130964	CV788103	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-8C>T	Combined malonic and methylmalonic acidemia [RCV000981132]	likely benign	16	89133128	89133128	Human	1	name
40905944	CV979856	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-9C>T	Combined malonic and methylmalonic acidemia [RCV001464591]\|Methylmalonic acidemia [RCV001279232]	likely benign\|uncertain significance	16	89120792	89120792	Human	3	name
40906952	CV979861	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+8C>T	Combined malonic and methylmalonic acidemia [RCV001395076]\|Methylmalonic acidemia [RCV001280412]	likely benign\|uncertain significance	16	89133270	89133270	Human	3	name
40906955	CV979864	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+3A>C	Combined malonic and methylmalonic acidemia [RCV003135914]\|Methylmalonic acidemia [RCV001280415]	uncertain significance	16	89146052	89146052	Human	3	name
40906957	CV979865	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+7C>G	Methylmalonic acidemia [RCV001280417]	uncertain significance	16	89146056	89146056	Human	2	name
40906958	CV979867	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+8T>A	Methylmalonic acidemia [RCV001280418]	uncertain significance	16	89146057	89146057	Human	2	name
127272073	CV1104355	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+10C>T	Combined malonic and methylmalonic acidemia [RCV001442033]	likely benign	16	89114497	89114497	Human	1	name
127332235	CV1125785	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-10C>T	Combined malonic and methylmalonic acidemia [RCV001472103]	likely benign	16	89145928	89145928	Human	1	name
127337352	CV1146657	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+10C>T	Combined malonic and methylmalonic acidemia [RCV001492801]	likely benign	16	89145411	89145411	Human	1	name
150338784	CV1167114	single nucleotide variant	NM_001243279.3(ACSF3):c.667-101T>C	Combined malonic and methylmalonic acidemia [RCV001533600]\|not provided [RCV001707893]	benign	16	89102503	89102503	Human	1	name
150338792	CV1167118	single nucleotide variant	NM_001243279.3(ACSF3):c.822+145T>C	Combined malonic and methylmalonic acidemia [RCV001533604]\|not provided [RCV001713110]	benign	16	89102904	89102904	Human	1	name
150338822	CV1167119	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+40G>T	Combined malonic and methylmalonic acidemia [RCV001533660]\|not provided [RCV001673143]	benign	16	89114527	89114527	Human	1	name
150338824	CV1167120	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+57G>C	Combined malonic and methylmalonic acidemia [RCV001533661]\|not provided [RCV001685448]	benign	16	89120970	89120970	Human	1	name
150338943	CV1167670	single nucleotide variant	NM_001243279.3(ACSF3):c.-194+48A>G	not provided [RCV001533911]	benign	16	89094044	89094044	Human		name
150335325	CV1172921	single nucleotide variant	NM_001243279.3(ACSF3):c.822+106T>C	not provided [RCV001540508]	benign	16	89102865	89102865	Human		name
150404650	CV1178988	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-129C>T	Combined malonic and methylmalonic acidemia [RCV001549044]\|not provided [RCV001713027]	benign	16	89100533	89100533	Human	1	name
150404652	CV1178989	single nucleotide variant	NM_001243279.3(ACSF3):c.666+195G>A	Combined malonic and methylmalonic acidemia [RCV001549045]\|not provided [RCV001725227]	benign	16	89101542	89101542	Human	1	name
150404653	CV1178990	single nucleotide variant	NM_001243279.3(ACSF3):c.666+199T>C	Combined malonic and methylmalonic acidemia [RCV001549046]\|not provided [RCV001619974]	benign	16	89101546	89101546	Human	1	name
150425319	CV1185181	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-67C>T	not provided [RCV001557848]	likely benign	16	89145200	89145200	Human		name
150405078	CV1195121	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-22C>T	not provided [RCV001571460]	likely benign	16	89133114	89133114	Human		name
150406680	CV1195122	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+41G>A	not provided [RCV001572091]	likely benign	16	89145442	89145442	Human		name
150513951	CV1210783	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-64A>T	not provided [RCV001598824]	benign	16	89145874	89145874	Human		name
150449767	CV1232590	single nucleotide variant	NM_001243279.3(ACSF3):c.822+117G>A	not provided [RCV001647664]	benign	16	89102876	89102876	Human	1	name
150449767	CV1232590	single nucleotide variant	NM_001243279.3(ACSF3):c.822+117G>A	not provided [RCV001647664]	benign	16	89102876	89102877	Human	1	name
150459391	CV1236089	single nucleotide variant	NM_001243279.3(ACSF3):c.667-287A>G	not provided [RCV001649060]	benign	16	89102317	89102317	Human		name
150480777	CV1239649	single nucleotide variant	NM_001243279.3(ACSF3):c.977+185T>C	not provided [RCV001652812]	benign	16	89112431	89112431	Human		name
150458419	CV1248931	single nucleotide variant	NM_001243279.3(ACSF3):c.977+119A>G	not provided [RCV001669107]	benign	16	89112365	89112365	Human		name
150455302	CV1259847	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-263A>G	not provided [RCV001681326]	benign	16	89100399	89100399	Human		name
150454439	CV1260667	single nucleotide variant	NM_001243279.3(ACSF3):c.-20-238G>A	not provided [RCV001681160]	benign	16	89100424	89100424	Human		name
150446302	CV1261344	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-25C>T	not provided [RCV001680018]	benign	16	89154065	89154065	Human		name
150487518	CV1283836	single nucleotide variant	NM_001243279.3(ACSF3):c.667-289C>T	not provided [RCV001715965]	benign	16	89102315	89102315	Human		name
150488909	CV1284122	single nucleotide variant	NM_001243279.3(ACSF3):c.-193-25C>A	not provided [RCV001716181]	benign	16	89098566	89098566	Human		name
150535370	CV1311865	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+12T>G	not provided [RCV001779675]	likely benign	16	89146061	89146061	Human		name
150535898	CV1312090	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+81C>T	not provided [RCV001779902]	likely benign	16	89120994	89120994	Human		name
151234728	CV1320449	single nucleotide variant	NM_001243279.3(ACSF3):c.-194+57G>A	not provided [RCV001800073]	likely benign	16	89094053	89094053	Human		name
8690020	CV139970	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-13C>G	Combined malonic and methylmalonic acidemia [RCV001511913]\|not provided [RCV004709298]\|not specified [RCV000123487]	benign	16	89145254	89145254	Human	1	name
152159117	CV1522558	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-12T>C	Combined malonic and methylmalonic acidemia [RCV002140609]	benign	16	89154078	89154078	Human	1	name
152157214	CV1615876	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+10T>C	Combined malonic and methylmalonic acidemia [RCV002158992]	likely benign	16	89120923	89120923	Human	1	name
153001375	CV1679975	single nucleotide variant	NM_001243279.3(ACSF3):c.-194+84T>A	not provided [RCV002251654]	likely benign	16	89094080	89094080	Human		name
156023341	CV1892454	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-14C>A	Combined malonic and methylmalonic acidemia [RCV003077735]	likely benign	16	89120787	89120787	Human	1	name
156111110	CV1903930	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-13C>T	Combined malonic and methylmalonic acidemia [RCV003080975]	likely benign	16	89145925	89145925	Human	1	name
156348770	CV2125232	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+17C>T	Combined malonic and methylmalonic acidemia [RCV002966134]	likely benign	16	89146066	89146066	Human	1	name
405026162	CV2879298	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-17T>C	Combined malonic and methylmalonic acidemia [RCV003529005]	likely benign	16	89133119	89133119	Human	1	name
405029593	CV2882445	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-11C>T	Combined malonic and methylmalonic acidemia [RCV003529309]	likely benign	16	89145256	89145256	Human	1	name
405027945	CV2884126	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-14C>G	Combined malonic and methylmalonic acidemia [RCV003529144]	likely benign	16	89120787	89120787	Human	1	name
405029457	CV2886091	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+20G>T	Combined malonic and methylmalonic acidemia [RCV003529297]	likely benign	16	89146069	89146069	Human	1	name
405028414	CV2891388	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-19G>A	Combined malonic and methylmalonic acidemia [RCV003529185]	likely benign	16	89154071	89154071	Human	1	name
405029079	CV2892403	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+20C>T	Combined malonic and methylmalonic acidemia [RCV003529265]	likely benign	16	89145421	89145421	Human	1	name
405034463	CV2912029	single nucleotide variant	NM_001243279.3(ACSF3):c.1613+18G>A	Combined malonic and methylmalonic acidemia [RCV003529712]	likely benign	16	89146067	89146067	Human	1	name
405016015	CV2921181	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+18A>C	Combined malonic and methylmalonic acidemia [RCV003527748]	likely benign	16	89114505	89114505	Human	1	name
405016901	CV2928344	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+19G>A	Combined malonic and methylmalonic acidemia [RCV003527826]	likely benign	16	89120932	89120932	Human	1	name
402486141	CV2951848	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+15C>T	Combined malonic and methylmalonic acidemia [RCV003643328]	likely benign	16	89133277	89133277	Human	1	name
402488696	CV2971332	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-13C>T	Combined malonic and methylmalonic acidemia [RCV003643592]	likely benign	16	89145254	89145254	Human	1	name
402491048	CV2988461	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-15G>T	Combined malonic and methylmalonic acidemia [RCV003643834]	likely benign	16	89145252	89145252	Human	1	name
402496805	CV3024142	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-18G>A	Combined malonic and methylmalonic acidemia [RCV003644458]	likely benign	16	89133118	89133118	Human	1	name
402479218	CV3044054	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-20A>G	Combined malonic and methylmalonic acidemia [RCV003642512]	likely benign	16	89145918	89145918	Human	1	name
402479771	CV3048758	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+11G>C	Combined malonic and methylmalonic acidemia [RCV003642580]	likely benign	16	89133273	89133273	Human	1	name
402479078	CV3053911	deletion	NM_001243279.3(ACSF3):c.1613+16del	Combined malonic and methylmalonic acidemia [RCV003642494]	benign	16	89146062	89146062	Human	1	name
402481213	CV3059265	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+11C>A	Combined malonic and methylmalonic acidemia [RCV003642757]	likely benign	16	89120924	89120924	Human	1	name
402480503	CV3060708	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-12C>G	Combined malonic and methylmalonic acidemia [RCV003642671]	likely benign	16	89120789	89120789	Human	1	name
402481751	CV3060977	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+14C>T	Combined malonic and methylmalonic acidemia [RCV003642674]	likely benign	16	89120927	89120927	Human	1	name
402481163	CV3062020	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-19T>C	Combined malonic and methylmalonic acidemia [RCV003642750]	likely benign	16	89133117	89133117	Human	1	name
402480304	CV3067506	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-16G>A	Combined malonic and methylmalonic acidemia [RCV003642647]	likely benign	16	89154074	89154074	Human	1	name
402487106	CV3074523	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+20G>C	Combined malonic and methylmalonic acidemia [RCV003643437]	likely benign	16	89120933	89120933	Human	1	name
402487131	CV3074629	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+17T>C	Combined malonic and methylmalonic acidemia [RCV003643440]	likely benign	16	89133279	89133279	Human	1	name
402482228	CV3075887	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-15C>G	Combined malonic and methylmalonic acidemia [RCV003642841]	likely benign	16	89133121	89133121	Human	1	name
402487057	CV3077131	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-18G>A	Combined malonic and methylmalonic acidemia [RCV003643431]	likely benign	16	89120783	89120783	Human	1	name
402482013	CV3078606	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+13G>A	Combined malonic and methylmalonic acidemia [RCV003642823]	likely benign	16	89120926	89120926	Human	1	name
402486739	CV3079719	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-12C>T	Combined malonic and methylmalonic acidemia [RCV003643393]	likely benign	16	89120789	89120789	Human	1	name
405175561	CV3123113	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-20A>G	Combined malonic and methylmalonic acidemia [RCV003819512]	likely benign	16	89133116	89133116	Human	1	name
405123489	CV3136337	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+12G>A	Combined malonic and methylmalonic acidemia [RCV003837667]	likely benign	16	89145413	89145413	Human	1	name
405147105	CV3141846	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+16A>G	Combined malonic and methylmalonic acidemia [RCV003839768]	likely benign	16	89133278	89133278	Human	1	name
405174515	CV3148161	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-11A>C	Combined malonic and methylmalonic acidemia [RCV003858133]	likely benign	16	89133125	89133125	Human	1	name
402491850	CV3182538	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+11C>G	Combined malonic and methylmalonic acidemia [RCV003877025]	likely benign	16	89120924	89120924	Human	1	name
404980992	CV3183446	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+18G>A	Combined malonic and methylmalonic acidemia [RCV003880469]	likely benign	16	89145419	89145419	Human	1	name
12835843	CV374703	single nucleotide variant	NM_001243279.3(ACSF3):c.-194+20C>G	not provided [RCV001703576]	likely benign	16	89094016	89094016	Human		name
12847783	CV375757	single nucleotide variant	NM_001243279.3(ACSF3):c.-193-14A>G	not specified [RCV000444107]	benign	16	89098577	89098577	Human		name
12846424	CV375796	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+11G>A	Combined malonic and methylmalonic acidemia [RCV003642888]\|not specified [RCV000441621]	likely benign	16	89145412	89145412	Human	1	name
12841006	CV375801	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-10G>C	Combined malonic and methylmalonic acidemia [RCV000880843]\|not specified [RCV000431797]	likely benign	16	89154080	89154080	Human	1	name
12840366	CV377913	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-18C>G	Combined malonic and methylmalonic acidemia [RCV001412234]\|not specified [RCV000430571]	likely benign	16	89145920	89145920	Human	1	name
597930858	CV3780280	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-13C>A	Combined malonic and methylmalonic acidemia [RCV005116600]	likely benign	16	89145254	89145254	Human	1	name
597842539	CV3831037	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-18A>G	Combined malonic and methylmalonic acidemia [RCV005172418]	likely benign	16	89145249	89145249	Human	1	name
13534737	CV505849	single nucleotide variant	NM_001243279.3(ACSF3):c.-194+14G>C	not specified [RCV000601991]	likely benign	16	89094010	89094010	Human		name
150404658	CV1178993	single nucleotide variant	NM_001243279.3(ACSF3):c.1502-146A>G	Combined malonic and methylmalonic acidemia [RCV001549049]\|not provided [RCV001713126]	benign	16	89145792	89145792	Human	1	name
150412781	CV1191871	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-130C>T	not provided [RCV001567013]	likely benign	16	89133006	89133006	Human		name
150404432	CV1195120	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-199G>A	not provided [RCV001571151]	likely benign	16	89132937	89132937	Human		name
150444561	CV1216645	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-222G>A	not provided [RCV001610945]	benign	16	89145045	89145045	Human		name
150452727	CV1219749	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-183G>A	not provided [RCV001612130]	benign	16	89145084	89145084	Human		name
150480616	CV1222004	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+117G>A	not provided [RCV001616801]	benign	16	89114604	89114604	Human		name
150514807	CV1228637	single nucleotide variant	NM_001243279.3(ACSF3):c.1366+220C>G	not provided [RCV001638625]	benign	16	89133482	89133482	Human		name
150433160	CV1230427	single nucleotide variant	NM_001243279.3(ACSF3):c.1501+210A>G	not provided [RCV001643372]	benign	16	89145611	89145611	Human		name
150498457	CV1235569	single nucleotide variant	NM_001243279.3(ACSF3):c.1127-341C>T	not provided [RCV001656252]	benign	16	89120460	89120460	Human		name
150499252	CV1235700	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-338C>G	not provided [RCV001656383]	benign	16	89153752	89153752	Human		name
150494245	CV1238829	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-220T>C	not provided [RCV001655373]	benign	16	89153870	89153870	Human		name
150441211	CV1265748	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-195C>T	not provided [RCV001690473]	benign	16	89145072	89145072	Human		name
150455023	CV1266118	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+244T>G	not provided [RCV001692695]	benign	16	89114731	89114731	Human	3	name
150455023	CV1266118	single nucleotide variant	NM_001243279.3(ACSF3):c.1126+244T>G	not provided [RCV001692695]	benign	16	89114731	89114732	Human	3	name
150478236	CV1271024	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-321G>A	not provided [RCV001696460]	benign	16	89153769	89153769	Human		name
150478803	CV1273359	single nucleotide variant	NM_001243279.3(ACSF3):c.1240-339G>A	not provided [RCV001696562]	benign	16	89132797	89132797	Human		name
150479019	CV1273396	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-264A>T	not provided [RCV001696599]	benign	16	89145003	89145003	Human		name
150535304	CV1311843	single nucleotide variant	NM_001243279.3(ACSF3):c.1614-118G>A	not provided [RCV001779653]	likely benign	16	89153972	89153972	Human		name
153002167	CV1685436	single nucleotide variant	NM_001243279.3(ACSF3):c.1367-464C>T	Combined malonic and methylmalonic acidemia [RCV002259423]	uncertain significance	16	89144803	89144803	Human	1	name
407460032	CV3496898	single nucleotide variant	NM_001243279.3(ACSF3):c.1239+1351C>A	Combined malonic and methylmalonic acidemia [RCV004698713]	benign	16	89122264	89122264	Human	1	name
155959766	CV2083395	deletion	NM_001243279.3(ACSF3):c.1231_1239+9del	Combined malonic and methylmalonic acidemia [RCV002862801]	likely pathogenic	16	89120905	89120922	Human	1	name
8568818	CV40099	deletion	ACSF3, LYS462THR AND GLY465_GLY470 DEL	Combined malonic and methylmalonic acidemia [RCV000024138]	pathogenic				Human		name
127312087	CV1125749	single nucleotide variant	NM_001243279.3(ACSF3):c.12T>C (p.His4=)	Combined malonic and methylmalonic acidemia [RCV001464289]	likely benign	16	89100693	89100693	Human	1	name
243054735	CV2409731	microsatellite	NM_001243279.3(ACSF3):c.1367-23_1396del	Combined malonic and methylmalonic acidemia [RCV003144652]	likely pathogenic\|conflicting interpretations of pathogenicity	16	89145184	89145236	Human		name
402494916	CV3009855	single nucleotide variant	NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)	Combined malonic and methylmalonic acidemia [RCV003644254]	likely benign	16	89100705	89100705	Human	1	name
402496045	CV3019099	single nucleotide variant	NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)	Combined malonic and methylmalonic acidemia [RCV003644380]	likely benign	16	89100708	89100708	Human	1	name
597951070	CV3765319	deletion	NM_001243279.3(ACSF3):c.978-11_978-9del	Combined malonic and methylmalonic acidemia [RCV005120963]	likely benign	16	89114328	89114330	Human	1	name
597856035	CV3806243	single nucleotide variant	NM_001243279.3(ACSF3):c.24C>T (p.Thr8=)	Combined malonic and methylmalonic acidemia [RCV005145985]	likely benign	16	89100705	89100705	Human	1	name
40905268	CV979821	single nucleotide variant	NM_001243279.3(ACSF3):c.18G>A (p.Val6=)	Combined malonic and methylmalonic acidemia [RCV001880259]\|Methylmalonic acidemia [RCV001278419]	likely benign\|uncertain significance	16	89100699	89100699	Human	3	name
127278772	CV1082551	single nucleotide variant	NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)	Combined malonic and methylmalonic acidemia [RCV001408692]	likely benign	16	89100747	89100747	Human	1	name
127263290	CV1082552	single nucleotide variant	NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)	ACSF3-related disorder [RCV003908575]\|Combined malonic and methylmalonic acidemia [RCV001402960]	likely benign	16	89100753	89100753	Human	1	name , trait , alternate_id
127245624	CV1104339	single nucleotide variant	NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)	Combined malonic and methylmalonic acidemia [RCV001435247]	likely benign	16	89100741	89100741	Human	1	name
127300448	CV1125750	single nucleotide variant	NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)	Combined malonic and methylmalonic acidemia [RCV001478418]	likely benign	16	89100732	89100732	Human	1	name
127288157	CV1125751	single nucleotide variant	NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)	Combined malonic and methylmalonic acidemia [RCV001450384]	likely benign	16	89100732	89100732	Human	1	name
127310873	CV1125752	single nucleotide variant	NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)	Combined malonic and methylmalonic acidemia [RCV001456717]	likely benign	16	89100747	89100747	Human	1	name
127314742	CV1125753	single nucleotide variant	NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)	Combined malonic and methylmalonic acidemia [RCV001465052]	likely benign	16	89100756	89100756	Human	1	name
150404655	CV1178991	deletion	NM_001243279.3(ACSF3):c.822+53_822+54del	Combined malonic and methylmalonic acidemia [RCV001549047]\|not provided [RCV001658280]	benign	16	89102812	89102813	Human	1	name
151760442	CV1380038	deletion	NM_001243279.3(ACSF3):c.16del (p.Val6fs)	Combined malonic and methylmalonic acidemia [RCV001970116]	pathogenic\|likely pathogenic	16	89100696	89100696	Human	1	name
8690022	CV139972	single nucleotide variant	NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro)	Combined malonic and methylmalonic acidemia [RCV001523135]\|Methylmalonic acidemia [RCV001274008]\|not provided [RCV004709300]\|not specified [RCV000123489]	benign	16	89100686	89100686	Human	3	name
8690024	CV139974	single nucleotide variant	NM_001243279.3(ACSF3):c.51G>C (p.Ala17=)	Combined malonic and methylmalonic acidemia [RCV001523136]\|Methylmalonic acidemia [RCV001274010]\|not provided [RCV004709302]\|not specified [RCV000123491]	benign	16	89100732	89100732	Human	3	name
152107746	CV1624097	single nucleotide variant	NM_001243279.3(ACSF3):c.54C>T (p.Ser18=)	Combined malonic and methylmalonic acidemia [RCV002134080]	likely benign	16	89100735	89100735	Human	1	name
152176457	CV1631368	single nucleotide variant	NM_001243279.3(ACSF3):c.72G>C (p.Ala24=)	Combined malonic and methylmalonic acidemia [RCV002164602]	likely benign	16	89100753	89100753	Human	1	name
156075841	CV1890215	single nucleotide variant	NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)	Combined malonic and methylmalonic acidemia [RCV003079700]	likely benign	16	89100714	89100714	Human	1	name
156446230	CV1951266	single nucleotide variant	NM_001243279.3(ACSF3):c.79A>C (p.Arg27=)	Combined malonic and methylmalonic acidemia [RCV003117199]	likely benign	16	89100760	89100760	Human	1	name
10058729	CV200302	single nucleotide variant	NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)	ACSF3-related disorder [RCV003416112]\|Combined malonic and methylmalonic acidemia [RCV002282016]\|not provided [RCV000185752]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	16	89100682	89100682	Human	1	name , trait , alternate_id
156219974	CV2083842	deletion	NM_001243279.3(ACSF3):c.1367-2_1367-1del	Combined malonic and methylmalonic acidemia [RCV002875830]	likely pathogenic	16	89145265	89145266	Human	1	name
155988158	CV2150046	single nucleotide variant	NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)	Combined malonic and methylmalonic acidemia [RCV003016694]\|not provided [RCV003427544]	likely benign	16	89100717	89100717	Human	1	name
156261620	CV2191052	single nucleotide variant	NM_001243279.3(ACSF3):c.45C>T (p.Ala15=)	Combined malonic and methylmalonic acidemia [RCV003044137]	likely benign	16	89100726	89100726	Human	1	name
402488351	CV2963614	deletion	NM_001243279.3(ACSF3):c.822+12_822+61del	Combined malonic and methylmalonic acidemia [RCV003643554]	likely benign	16	89102767	89102816	Human	1	name
402488372	CV2963783	single nucleotide variant	NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)	Combined malonic and methylmalonic acidemia [RCV003643556]	likely benign	16	89100714	89100714	Human	1	name
402493352	CV2996438	single nucleotide variant	NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)	Combined malonic and methylmalonic acidemia [RCV003644079]	likely benign	16	89100765	89100765	Human	1	name
13540450	CV505850	single nucleotide variant	NM_001243279.3(ACSF3):c.60G>T (p.Arg20=)	Combined malonic and methylmalonic acidemia [RCV002066570]\|not specified [RCV000614714]	likely benign	16	89100741	89100741	Human	1	name
15183289	CV726924	single nucleotide variant	NM_001243279.3(ACSF3):c.45C>G (p.Ala15=)	Combined malonic and methylmalonic acidemia [RCV000886194]	likely benign	16	89100726	89100726	Human	1	name
15202023	CV755535	single nucleotide variant	NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)	Combined malonic and methylmalonic acidemia [RCV001455120]\|Methylmalonic acidemia [RCV001278421]	likely benign\|uncertain significance	16	89100723	89100723	Human	3	name
40906956	CV979866	deletion	NM_001243279.3(ACSF3):c.1613+7_1613+8del	Methylmalonic acidemia [RCV001280416]	uncertain significance	16	89146056	89146057	Human	2	name
127281500	CV1082553	single nucleotide variant	NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)	Combined malonic and methylmalonic acidemia [RCV001410541]	likely benign	16	89100804	89100804	Human	1	name
127276317	CV1082554	single nucleotide variant	NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)	Combined malonic and methylmalonic acidemia [RCV001407123]	likely benign	16	89100813	89100813	Human	1	name
127236824	CV1082555	single nucleotide variant	NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)	Combined malonic and methylmalonic acidemia [RCV001396972]	likely benign	16	89100897	89100897	Human	1	name
127280078	CV1104340	single nucleotide variant	NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)	ACSF3-related disorder [RCV003920956]\|Combined malonic and methylmalonic acidemia [RCV001446224]	likely benign	16	89100852	89100852	Human	1	name , trait , alternate_id
127242911	CV1104341	single nucleotide variant	NM_001243279.3(ACSF3):c.189C>T (p.His63=)	Combined malonic and methylmalonic acidemia [RCV001434733]	likely benign	16	89100870	89100870	Human	1	name
127271025	CV1104342	single nucleotide variant	NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)	Combined malonic and methylmalonic acidemia [RCV001430803]	likely benign	16	89100900	89100900	Human	1	name
127299719	CV1125754	single nucleotide variant	NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)	Combined malonic and methylmalonic acidemia [RCV001453652]	likely benign	16	89100816	89100816	Human	1	name
127304436	CV1125755	single nucleotide variant	NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)	Combined malonic and methylmalonic acidemia [RCV001454965]	likely benign	16	89100828	89100828	Human	1	name
127308455	CV1125756	single nucleotide variant	NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)	Combined malonic and methylmalonic acidemia [RCV001456092]\|not provided [RCV004704573]	likely benign	16	89100882	89100882	Human	1	name
127304028	CV1125782	deletion	NM_001243279.3(ACSF3):c.1367-36_1367-7del	Combined malonic and methylmalonic acidemia [RCV001454884]	likely benign	16	89145228	89145257	Human	1	name
127320151	CV1157894	microsatellite	NM_001243279.3(ACSF3):c.1502-11_1502-9del	Combined malonic and methylmalonic acidemia [RCV001522489]\|not provided [RCV001712943]	benign	16	89145923	89145925	Human		name
151735370	CV1508831	single nucleotide variant	NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)	Combined malonic and methylmalonic acidemia [RCV002021746]	uncertain significance	16	89100697	89100697	Human	1	name
152032810	CV1537962	single nucleotide variant	NM_001243279.3(ACSF3):c.105C>T (p.Ala35=)	Combined malonic and methylmalonic acidemia [RCV002186968]	likely benign	16	89100786	89100786	Human	1	name
152165179	CV1543711	single nucleotide variant	NM_001243279.3(ACSF3):c.141C>T (p.Phe47=)	Combined malonic and methylmalonic acidemia [RCV002123958]	likely benign	16	89100822	89100822	Human	1	name
152109799	CV1585870	single nucleotide variant	NM_001243279.3(ACSF3):c.294C>G (p.Val98=)	Combined malonic and methylmalonic acidemia [RCV002134334]	likely benign	16	89100975	89100975	Human	1	name
152153564	CV1592842	single nucleotide variant	NM_001243279.3(ACSF3):c.297C>A (p.Ser99=)	Combined malonic and methylmalonic acidemia [RCV002202346]	likely benign	16	89100978	89100978	Human	1	name
152052974	CV1619193	single nucleotide variant	NM_001243279.3(ACSF3):c.237C>T (p.Ser79=)	Combined malonic and methylmalonic acidemia [RCV002167101]	likely benign	16	89100918	89100918	Human	1	name
152027361	CV1626885	single nucleotide variant	NM_001243279.3(ACSF3):c.282G>A (p.Arg94=)	Combined malonic and methylmalonic acidemia [RCV002185472]	likely benign	16	89100963	89100963	Human	1	name
152073604	CV1638031	single nucleotide variant	NM_001243279.3(ACSF3):c.117C>T (p.Arg39=)	Combined malonic and methylmalonic acidemia [RCV002192119]	likely benign	16	89100798	89100798	Human	1	name
156208850	CV1906129	single nucleotide variant	NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)	Combined malonic and methylmalonic acidemia [RCV003084512]	uncertain significance	16	89100692	89100692	Human	1	name
156309402	CV1917289	single nucleotide variant	NM_001243279.3(ACSF3):c.231C>T (p.Arg77=)	Combined malonic and methylmalonic acidemia [RCV002599566]	likely benign	16	89100912	89100912	Human	1	name
156210403	CV1955730	single nucleotide variant	NM_001243279.3(ACSF3):c.177G>A (p.Leu59=)	Combined malonic and methylmalonic acidemia [RCV002575130]	likely benign	16	89100858	89100858	Human	1	name
155909343	CV2044821	single nucleotide variant	NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)	Combined malonic and methylmalonic acidemia [RCV002771465]	likely benign	16	89100837	89100837	Human	1	name
156292216	CV2055410	single nucleotide variant	NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)	Combined malonic and methylmalonic acidemia [RCV002833252]	likely benign	16	89100801	89100801	Human	1	name
156214140	CV2114681	single nucleotide variant	NM_001243279.3(ACSF3):c.255C>T (p.Leu85=)	Combined malonic and methylmalonic acidemia [RCV002932188]	likely benign	16	89100936	89100936	Human	1	name
156316585	CV2161447	single nucleotide variant	NM_001243279.3(ACSF3):c.294C>T (p.Val98=)	Combined malonic and methylmalonic acidemia [RCV003046341]	likely benign	16	89100975	89100975	Human	1	name
156072592	CV2163685	single nucleotide variant	NM_001243279.3(ACSF3):c.162G>A (p.Gly54=)	Combined malonic and methylmalonic acidemia [RCV003020083]	likely benign	16	89100843	89100843	Human	1	name
402492821	CV2998918	single nucleotide variant	NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)	Combined malonic and methylmalonic acidemia [RCV003644022]	likely benign	16	89100789	89100789	Human	1	name
402494852	CV3013198	single nucleotide variant	NM_001243279.3(ACSF3):c.192C>T (p.Gly64=)	Combined malonic and methylmalonic acidemia [RCV003644247]	likely benign	16	89100873	89100873	Human	1	name
402479764	CV3048676	single nucleotide variant	NM_001243279.3(ACSF3):c.255C>G (p.Leu85=)	Combined malonic and methylmalonic acidemia [RCV003642579]	likely benign	16	89100936	89100936	Human	1	name
402480815	CV3068691	single nucleotide variant	NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)	Combined malonic and methylmalonic acidemia [RCV003642709]	likely benign	16	89100832	89100832	Human	1	name
405198332	CV3132155	single nucleotide variant	NM_001243279.3(ACSF3):c.261G>C (p.Gly87=)	Combined malonic and methylmalonic acidemia [RCV003821748]	likely benign	16	89100942	89100942	Human	1	name
405246052	CV3162203	single nucleotide variant	NM_001243279.3(ACSF3):c.252G>A (p.Arg84=)	Combined malonic and methylmalonic acidemia [RCV003868722]	likely benign	16	89100933	89100933	Human	1	name
405278352	CV3216515	single nucleotide variant	NM_001243279.3(ACSF3):c.282G>C (p.Arg94=)	ACSF3-related disorder [RCV003954437]	likely benign	16	89100963	89100963	Human		name , trait , alternate_id
12835933	CV374718	single nucleotide variant	NM_001243279.3(ACSF3):c.297C>T (p.Ser99=)	Combined malonic and methylmalonic acidemia [RCV001523082]\|not provided [RCV004710013]\|not specified [RCV000422540]	benign	16	89100978	89100978	Human	1	name
597869882	CV3771951	single nucleotide variant	NM_001243279.3(ACSF3):c.120G>C (p.Ser40=)	Combined malonic and methylmalonic acidemia [RCV005122461]	likely benign	16	89100801	89100801	Human	1	name
597906853	CV3773106	single nucleotide variant	NM_001243279.3(ACSF3):c.159T>C (p.Phe53=)	Combined malonic and methylmalonic acidemia [RCV005113170]	likely benign	16	89100840	89100840	Human	1	name
13526113	CV506084	single nucleotide variant	NM_001243279.3(ACSF3):c.258C>T (p.Cys86=)	Combined malonic and methylmalonic acidemia [RCV001463068]\|not specified [RCV000603684]	likely benign	16	89100939	89100939	Human	1	name
14742405	CV656394	single nucleotide variant	NM_001243279.3(ACSF3):c.285G>A (p.Glu95=)	Combined malonic and methylmalonic acidemia [RCV001085028]\|not provided [RCV000841366]	benign\|likely benign	16	89100966	89100966	Human	1	name
15107446	CV726925	single nucleotide variant	NM_001243279.3(ACSF3):c.267C>T (p.Val89=)	Combined malonic and methylmalonic acidemia [RCV000893480]	likely benign	16	89100948	89100948	Human	1	name
15184201	CV771183	single nucleotide variant	NM_001243279.3(ACSF3):c.120G>A (p.Ser40=)	Combined malonic and methylmalonic acidemia [RCV000930756]	benign	16	89100801	89100801	Human	1	name
15106224	CV771184	single nucleotide variant	NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)	Combined malonic and methylmalonic acidemia [RCV000937740]	likely benign	16	89100810	89100810	Human	1	name
15130613	CV771185	single nucleotide variant	NM_001243279.3(ACSF3):c.156C>T (p.Ala52=)	Combined malonic and methylmalonic acidemia [RCV000942081]\|not provided [RCV004704352]	likely benign	16	89100837	89100837	Human	1	name
15110421	CV785428	single nucleotide variant	NM_001243279.3(ACSF3):c.138G>A (p.Val46=)	Combined malonic and methylmalonic acidemia [RCV001429698]	likely benign	16	89100819	89100819	Human	1	name
40905274	CV979827	single nucleotide variant	NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)	Combined malonic and methylmalonic acidemia [RCV002541684]\|Methylmalonic acidemia [RCV001278428]	likely benign\|uncertain significance	16	89100816	89100816	Human	3	name
127253977	CV1082550	inversion	NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)	Combined malonic and methylmalonic acidemia [RCV001400712]	likely benign	16	89100686	89100687	Human		name
127236843	CV1082556	single nucleotide variant	NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)	Combined malonic and methylmalonic acidemia [RCV001414746]	likely benign	16	89101026	89101026	Human	1	name
127248195	CV1082557	single nucleotide variant	NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)	Combined malonic and methylmalonic acidemia [RCV001417081]	likely benign	16	89101155	89101155	Human	1	name
127243947	CV1082558	single nucleotide variant	NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)	Combined malonic and methylmalonic acidemia [RCV001398496]	likely benign	16	89101179	89101179	Human	1	name
127280128	CV1082559	single nucleotide variant	NM_001243279.3(ACSF3):c.555C>G (p.Val185=)	Combined malonic and methylmalonic acidemia [RCV001409611]	likely benign	16	89101236	89101236	Human	1	name
127274607	CV1104343	single nucleotide variant	NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)	Combined malonic and methylmalonic acidemia [RCV001432010]	likely benign	16	89101002	89101002	Human	1	name
127255526	CV1104344	single nucleotide variant	NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)	Combined malonic and methylmalonic acidemia [RCV001426609]	likely benign	16	89101065	89101065	Human	1	name
127271821	CV1104345	single nucleotide variant	NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)	Combined malonic and methylmalonic acidemia [RCV001441962]	likely benign	16	89101125	89101125	Human	1	name
127243570	CV1104346	single nucleotide variant	NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)	Combined malonic and methylmalonic acidemia [RCV001423976]	likely benign	16	89101227	89101227	Human	1	name
127280719	CV1104347	single nucleotide variant	NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)	Combined malonic and methylmalonic acidemia [RCV001446690]	likely benign	16	89102615	89102615	Human	1	name
127284456	CV1104348	single nucleotide variant	NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)	Combined malonic and methylmalonic acidemia [RCV001449471]	likely benign	16	89102666	89102666	Human	1	name
127267486	CV1104349	single nucleotide variant	NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)	Combined malonic and methylmalonic acidemia [RCV001440561]	likely benign	16	89102696	89102696	Human	1	name
127276020	CV1104351	single nucleotide variant	NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)	Combined malonic and methylmalonic acidemia [RCV001443620]	likely benign	16	89112187	89112187	Human	1	name
127272208	CV1104352	single nucleotide variant	NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)	Combined malonic and methylmalonic acidemia [RCV001431218]	likely benign	16	89112226	89112226	Human	1	name
127284128	CV1104353	single nucleotide variant	NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)	Combined malonic and methylmalonic acidemia [RCV001448996]	likely benign	16	89114351	89114351	Human	1	name
127307593	CV1125757	single nucleotide variant	NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)	Combined malonic and methylmalonic acidemia [RCV001455823]	likely benign	16	89101014	89101014	Human	1	name
127304495	CV1125758	single nucleotide variant	NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)	Combined malonic and methylmalonic acidemia [RCV001462262]	likely benign	16	89101074	89101074	Human	1	name
127311716	CV1125759	single nucleotide variant	NM_001243279.3(ACSF3):c.435G>A (p.Val145=)	Combined malonic and methylmalonic acidemia [RCV001456984]	likely benign	16	89101116	89101116	Human	1	name
127288132	CV1125760	single nucleotide variant	NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)	Combined malonic and methylmalonic acidemia [RCV001450376]	likely benign	16	89101183	89101183	Human	1	name
127295112	CV1125761	single nucleotide variant	NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)	Combined malonic and methylmalonic acidemia [RCV001477021]	likely benign	16	89101221	89101221	Human	1	name
127316728	CV1125762	single nucleotide variant	NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)	Combined malonic and methylmalonic acidemia [RCV001465617]	likely benign	16	89101326	89101326	Human	1	name
127324934	CV1125764	single nucleotide variant	NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)	Combined malonic and methylmalonic acidemia [RCV001468316]	likely benign	16	89102753	89102753	Human	1	name
127318145	CV1125766	single nucleotide variant	NM_001243279.3(ACSF3):c.867C>T (p.Val289=)	Combined malonic and methylmalonic acidemia [RCV001466089]	likely benign	16	89112136	89112136	Human	1	name
127301941	CV1125767	single nucleotide variant	NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)	Combined malonic and methylmalonic acidemia [RCV001461511]	likely benign	16	89112163	89112163	Human	1	name
127310616	CV1125768	single nucleotide variant	NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)	Combined malonic and methylmalonic acidemia [RCV001456655]	likely benign	16	89112169	89112169	Human	1	name
127327508	CV1125769	single nucleotide variant	NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)	Combined malonic and methylmalonic acidemia [RCV001469110]	likely benign	16	89112226	89112226	Human	1	name
127333354	CV1146635	single nucleotide variant	NM_001243279.3(ACSF3):c.369C>G (p.Val123=)	Combined malonic and methylmalonic acidemia [RCV001490126]	likely benign	16	89101050	89101050	Human	1	name
127330543	CV1146636	single nucleotide variant	NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)	Combined malonic and methylmalonic acidemia [RCV001488211]	likely benign	16	89101080	89101080	Human	1	name
127317191	CV1146637	single nucleotide variant	NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)	Combined malonic and methylmalonic acidemia [RCV001483089]	likely benign	16	89101155	89101155	Human	1	name
127310535	CV1146638	single nucleotide variant	NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)	Combined malonic and methylmalonic acidemia [RCV001481164]	likely benign	16	89101167	89101167	Human	1	name
127303084	CV1146639	single nucleotide variant	NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)	Combined malonic and methylmalonic acidemia [RCV001479152]	likely benign	16	89101179	89101179	Human	1	name
127289088	CV1146640	single nucleotide variant	NM_001243279.3(ACSF3):c.555C>T (p.Val185=)	Combined malonic and methylmalonic acidemia [RCV001495516]	likely benign	16	89101236	89101236	Human	1	name
127316621	CV1146641	single nucleotide variant	NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)	Combined malonic and methylmalonic acidemia [RCV001482926]	likely benign	16	89101239	89101239	Human	1	name
127330714	CV1146642	single nucleotide variant	NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)	Combined malonic and methylmalonic acidemia [RCV001488298]	likely benign	16	89101266	89101266	Human	1	name
127327310	CV1146643	single nucleotide variant	NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)	Combined malonic and methylmalonic acidemia [RCV001486311]	likely benign	16	89101344	89101344	Human	1	name
127311489	CV1146645	single nucleotide variant	NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)	Combined malonic and methylmalonic acidemia [RCV001481475]	likely benign	16	89102666	89102666	Human	1	name
127334721	CV1146646	single nucleotide variant	NM_001243279.3(ACSF3):c.741C>A (p.Val247=)	Combined malonic and methylmalonic acidemia [RCV001491054]	likely benign	16	89102678	89102678	Human	1	name
127312508	CV1146647	single nucleotide variant	NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)	Combined malonic and methylmalonic acidemia [RCV001501942]	likely benign	16	89102723	89102723	Human	1	name
127338204	CV1146648	single nucleotide variant	NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)	Combined malonic and methylmalonic acidemia [RCV001493680]	likely benign	16	89112115	89112115	Human	1	name
151890645	CV1349089	single nucleotide variant	NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)	Combined malonic and methylmalonic acidemia [RCV001943096]	uncertain significance	16	89100713	89100713	Human	1	name
151768898	CV1383527	single nucleotide variant	NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)	Combined malonic and methylmalonic acidemia [RCV001874249]	uncertain significance	16	89100772	89100772	Human	1	name
8690023	CV139973	single nucleotide variant	NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro)	Combined malonic and methylmalonic acidemia [RCV001523009]\|Methylmalonic acidemia [RCV001274009]\|not provided [RCV004709301]\|not specified [RCV000123490]	benign	16	89100730	89100730	Human	4	name
8690023	CV139973	single nucleotide variant	NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro)	Combined malonic and methylmalonic acidemia [RCV001523009]\|Methylmalonic acidemia [RCV001274009]\|not provided [RCV004709301]\|not specified [RCV000123490]	benign	16	89100730	89100731	Human	4	name
8690025	CV139975	single nucleotide variant	NM_001243279.3(ACSF3):c.306C>T (p.Cys102=)	Combined malonic and methylmalonic acidemia [RCV001523137]\|not provided [RCV004709303]\|not specified [RCV000123492]	benign	16	89100987	89100987	Human	1	name
8690026	CV139976	single nucleotide variant	NM_001243279.3(ACSF3):c.315T>C (p.Asp105=)	Combined malonic and methylmalonic acidemia [RCV001523138]\|Methylmalonic acidemia [RCV001274011]\|not provided [RCV004709304]\|not specified [RCV000123493]	benign	16	89100996	89100996	Human	3	name
8690027	CV139977	single nucleotide variant	NM_001243279.3(ACSF3):c.342G>C (p.Ala114=)	Combined malonic and methylmalonic acidemia [RCV001523139]\|Methylmalonic acidemia [RCV001274012]\|not provided [RCV004709305]\|not specified [RCV000123494]	benign	16	89101023	89101023	Human	3	name
8690028	CV139978	single nucleotide variant	NM_001243279.3(ACSF3):c.354T>C (p.Ser118=)	Combined malonic and methylmalonic acidemia [RCV001523140]\|Methylmalonic acidemia [RCV001274013]\|not provided [RCV004709306]\|not specified [RCV000123495]	benign	16	89101035	89101035	Human	3	name
8690029	CV139979	single nucleotide variant	NM_001243279.3(ACSF3):c.369C>A (p.Val123=)	Combined malonic and methylmalonic acidemia [RCV001523141]\|Methylmalonic acidemia [RCV001274014]\|not provided [RCV004709307]\|not specified [RCV000123496]	benign	16	89101050	89101050	Human	3	name
151756530	CV1426148	deletion	NM_001243279.3(ACSF3):c.134del (p.Pro45fs)	Combined malonic and methylmalonic acidemia [RCV002007382]	pathogenic	16	89100812	89100812	Human	1	name
152118298	CV1522315	single nucleotide variant	NM_001243279.3(ACSF3):c.648C>T (p.His216=)	Combined malonic and methylmalonic acidemia [RCV002081198]	likely benign	16	89101329	89101329	Human	1	name
152091404	CV1528736	single nucleotide variant	NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=)	Combined malonic and methylmalonic acidemia [RCV002094232]	likely benign	16	89101005	89101005	Human	1	name
152075040	CV1544772	single nucleotide variant	NM_001243279.3(ACSF3):c.792T>C (p.Cys264=)	Combined malonic and methylmalonic acidemia [RCV002169798]	likely benign	16	89102729	89102729	Human	1	name
152092287	CV1545028	single nucleotide variant	NM_001243279.3(ACSF3):c.999T>C (p.Ala333=)	Combined malonic and methylmalonic acidemia [RCV002171986]	likely benign	16	89114360	89114360	Human	1	name
152081279	CV1548238	single nucleotide variant	NM_001243279.3(ACSF3):c.573A>G (p.Gly191=)	Combined malonic and methylmalonic acidemia [RCV002076401]	likely benign	16	89101254	89101254	Human	1	name
152031392	CV1548707	single nucleotide variant	NM_001243279.3(ACSF3):c.366A>G (p.Ala122=)	Combined malonic and methylmalonic acidemia [RCV002086355]	likely benign	16	89101047	89101047	Human	1	name
152061928	CV1563637	single nucleotide variant	NM_001243279.3(ACSF3):c.870T>C (p.Phe290=)	Combined malonic and methylmalonic acidemia [RCV002208791]	likely benign	16	89112139	89112139	Human	1	name
152084623	CV1569776	single nucleotide variant	NM_001243279.3(ACSF3):c.750G>T (p.Val250=)	Combined malonic and methylmalonic acidemia [RCV002113217]	likely benign	16	89102687	89102687	Human	1	name
152104124	CV1570040	single nucleotide variant	NM_001243279.3(ACSF3):c.465C>T (p.Leu155=)	Combined malonic and methylmalonic acidemia [RCV002195926]	likely benign	16	89101146	89101146	Human	1	name
152038163	CV1576653	single nucleotide variant	NM_001243279.3(ACSF3):c.573A>T (p.Gly191=)	Combined malonic and methylmalonic acidemia [RCV002107333]	likely benign	16	89101254	89101254	Human	1	name
152137951	CV1591922	single nucleotide variant	NM_001243279.3(ACSF3):c.390C>G (p.Pro130=)	Combined malonic and methylmalonic acidemia [RCV002100370]	likely benign	16	89101071	89101071	Human	1	name
152121131	CV1593933	single nucleotide variant	NM_001243279.3(ACSF3):c.762G>A (p.Leu254=)	Combined malonic and methylmalonic acidemia [RCV002098164]	likely benign	16	89102699	89102699	Human	1	name
152091077	CV1595783	single nucleotide variant	NM_001243279.3(ACSF3):c.735C>T (p.His245=)	Combined malonic and methylmalonic acidemia [RCV002077720]	likely benign	16	89102672	89102672	Human	1	name
152150870	CV1598179	single nucleotide variant	NM_001243279.3(ACSF3):c.669G>T (p.Val223=)	Combined malonic and methylmalonic acidemia [RCV002121718]	likely benign	16	89102606	89102606	Human	1	name
152172006	CV1598932	single nucleotide variant	NM_001243279.3(ACSF3):c.987C>A (p.Val329=)	Combined malonic and methylmalonic acidemia [RCV002143630]	likely benign	16	89114348	89114348	Human	1	name
152165821	CV1612700	single nucleotide variant	NM_001243279.3(ACSF3):c.591C>T (p.Ala197=)	Combined malonic and methylmalonic acidemia [RCV002160523]	likely benign	16	89101272	89101272	Human	1	name
152121299	CV1613173	single nucleotide variant	NM_001243279.3(ACSF3):c.765C>T (p.Leu255=)	Combined malonic and methylmalonic acidemia [RCV002154292]	likely benign	16	89102702	89102702	Human	1	name
152034597	CV1621625	single nucleotide variant	NM_001243279.3(ACSF3):c.481A>C (p.Arg161=)	Combined malonic and methylmalonic acidemia [RCV002205374]	likely benign	16	89101162	89101162	Human	1	name
152131846	CV1631188	single nucleotide variant	NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=)	Combined malonic and methylmalonic acidemia [RCV002119187]	likely benign	16	89101137	89101137	Human	1	name
152076340	CV1632691	single nucleotide variant	NM_001243279.3(ACSF3):c.810C>T (p.Phe270=)	Combined malonic and methylmalonic acidemia [RCV002169964]	likely benign	16	89102747	89102747	Human	1	name
152139338	CV1638133	single nucleotide variant	NM_001243279.3(ACSF3):c.939C>T (p.Ala313=)	Combined malonic and methylmalonic acidemia [RCV002177849]	likely benign	16	89112208	89112208	Human	1	name
152029411	CV1653211	single nucleotide variant	NM_001243279.3(ACSF3):c.747T>C (p.Gly249=)	Combined malonic and methylmalonic acidemia [RCV002085793]	likely benign	16	89102684	89102684	Human	1	name
152029694	CV1653419	single nucleotide variant	NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=)	Combined malonic and methylmalonic acidemia [RCV002085888]	likely benign	16	89112181	89112181	Human	1	name
152147938	CV1653817	single nucleotide variant	NM_001243279.3(ACSF3):c.669G>A (p.Val223=)	Combined malonic and methylmalonic acidemia [RCV002139084]	likely benign	16	89102606	89102606	Human	1	name
152147995	CV1656297	single nucleotide variant	NM_001243279.3(ACSF3):c.858G>C (p.Arg286=)	Combined malonic and methylmalonic acidemia [RCV002220350]	likely benign	16	89112127	89112127	Human	1	name
156408588	CV1870160	single nucleotide variant	NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)	Combined malonic and methylmalonic acidemia [RCV003071330]	uncertain significance	16	89100739	89100739	Human	1	name
156043353	CV1914705	single nucleotide variant	NM_001243279.3(ACSF3):c.333C>G (p.Ala111=)	Combined malonic and methylmalonic acidemia [RCV002620346]	likely benign	16	89101014	89101014	Human	1	name
155951534	CV1921987	single nucleotide variant	NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)	Combined malonic and methylmalonic acidemia [RCV002616250]\|Inborn genetic diseases [RCV005310931]	uncertain significance	16	89100725	89100725	Human	2	name
156114688	CV1958156	single nucleotide variant	NM_001243279.3(ACSF3):c.858G>T (p.Arg286=)	Combined malonic and methylmalonic acidemia [RCV002592901]	likely benign	16	89112127	89112127	Human	1	name
156224310	CV1981493	single nucleotide variant	NM_001243279.3(ACSF3):c.885A>G (p.Thr295=)	Combined malonic and methylmalonic acidemia [RCV002626561]	likely benign	16	89112154	89112154	Human	1	name
156228252	CV1991674	single nucleotide variant	NM_001243279.3(ACSF3):c.765C>G (p.Leu255=)	Combined malonic and methylmalonic acidemia [RCV002626697]	likely benign	16	89102702	89102702	Human	1	name
156082351	CV1992814	single nucleotide variant	NM_001243279.3(ACSF3):c.861C>T (p.Ile287=)	Combined malonic and methylmalonic acidemia [RCV002638940]	likely benign	16	89112130	89112130	Human	1	name
10056148	CV200303	single nucleotide variant	NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)	Combined malonic and methylmalonic acidemia [RCV002516959]\|not provided [RCV000224144]\|not specified [RCV003235109]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	16	89100709	89100709	Human	1	name
10056144	CV200304	single nucleotide variant	NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)	Combined malonic and methylmalonic acidemia [RCV002519572]\|Methylmalonic acidemia [RCV001278420]	likely benign\|uncertain significance	16	89100710	89100710	Human	3	name
156014489	CV2036100	single nucleotide variant	NM_001243279.3(ACSF3):c.498G>C (p.Pro166=)	Combined malonic and methylmalonic acidemia [RCV002756867]	likely benign	16	89101179	89101179	Human	1	name
155924763	CV2044956	single nucleotide variant	NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)	Combined malonic and methylmalonic acidemia [RCV002750878]	uncertain significance	16	89100730	89100730	Human	1	name
156045093	CV2049925	single nucleotide variant	NM_001243279.3(ACSF3):c.831A>G (p.Glu277=)	Combined malonic and methylmalonic acidemia [RCV002796578]	likely benign	16	89112100	89112100	Human	1	name
156245602	CV2053310	single nucleotide variant	NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)	Combined malonic and methylmalonic acidemia [RCV002791509]	uncertain significance	16	89100773	89100773	Human	1	name
156063722	CV2057576	single nucleotide variant	NM_001243279.3(ACSF3):c.906G>A (p.Glu302=)	Combined malonic and methylmalonic acidemia [RCV002797184]	likely benign	16	89112175	89112175	Human	1	name
156178014	CV2061181	single nucleotide variant	NM_001243279.3(ACSF3):c.867C>A (p.Val289=)	Combined malonic and methylmalonic acidemia [RCV002802167]	likely benign	16	89112136	89112136	Human	1	name
156053330	CV2064679	single nucleotide variant	NM_001243279.3(ACSF3):c.804T>C (p.Pro268=)	Combined malonic and methylmalonic acidemia [RCV002846511]	likely benign	16	89102741	89102741	Human	1	name
156299384	CV2075789	single nucleotide variant	NM_001243279.3(ACSF3):c.396C>A (p.Ala132=)	Combined malonic and methylmalonic acidemia [RCV002857092]	likely benign	16	89101077	89101077	Human	1	name
155960833	CV2138365	single nucleotide variant	NM_001243279.3(ACSF3):c.600C>T (p.Ile200=)	Combined malonic and methylmalonic acidemia [RCV002972377]	likely benign	16	89101281	89101281	Human	1	name
155918103	CV2152508	single nucleotide variant	NM_001243279.3(ACSF3):c.609T>C (p.Ser203=)	Combined malonic and methylmalonic acidemia [RCV002991762]	likely benign	16	89101290	89101290	Human	1	name
155955842	CV2162623	single nucleotide variant	NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)	Combined malonic and methylmalonic acidemia [RCV003015094]	likely benign	16	89114357	89114357	Human	1	name
156316438	CV2169184	single nucleotide variant	NM_001243279.3(ACSF3):c.468G>A (p.Leu156=)	Combined malonic and methylmalonic acidemia [RCV003028889]	likely benign	16	89101149	89101149	Human	1	name
155951272	CV2169544	single nucleotide variant	NM_001243279.3(ACSF3):c.699C>T (p.Thr233=)	Combined malonic and methylmalonic acidemia [RCV003014865]	likely benign	16	89102636	89102636	Human	1	name
156095858	CV2183541	single nucleotide variant	NM_001243279.3(ACSF3):c.549A>G (p.Ala183=)	Combined malonic and methylmalonic acidemia [RCV003054537]	likely benign	16	89101230	89101230	Human	1	name
401776555	CV2711191	single nucleotide variant	NM_001243279.3(ACSF3):c.62T>C (p.Leu21Pro)	Inborn genetic diseases [RCV003286470]	likely benign	16	89100743	89100743	Human	1	name
401796267	CV2740473	single nucleotide variant	NM_001243279.3(ACSF3):c.65C>T (p.Ala22Val)	not provided [RCV003321143]	uncertain significance	16	89100746	89100746	Human		name
405022172	CV2855346	single nucleotide variant	NM_001243279.3(ACSF3):c.864T>C (p.Asn288=)	Combined malonic and methylmalonic acidemia [RCV003528605]	likely benign	16	89112133	89112133	Human	1	name
405024398	CV2862908	duplication	NM_001243279.3(ACSF3):c.220dup (p.Arg74fs)	Combined malonic and methylmalonic acidemia [RCV003528847]	pathogenic	16	89100898	89100899	Human	1	name
405029282	CV2889055	single nucleotide variant	NM_001243279.3(ACSF3):c.732G>C (p.Leu244=)	Combined malonic and methylmalonic acidemia [RCV003529282]	likely benign	16	89102669	89102669	Human	1	name
405032125	CV2895452	single nucleotide variant	NM_001243279.3(ACSF3):c.558G>C (p.Pro186=)	Combined malonic and methylmalonic acidemia [RCV003529518]	likely benign	16	89101239	89101239	Human	1	name
405034203	CV2907713	single nucleotide variant	NM_001243279.3(ACSF3):c.838T>C (p.Leu280=)	Combined malonic and methylmalonic acidemia [RCV003529691]	likely benign	16	89112107	89112107	Human	1	name
405015179	CV2916457	single nucleotide variant	NM_001243279.3(ACSF3):c.856C>A (p.Arg286=)	Combined malonic and methylmalonic acidemia [RCV003527659]	likely benign	16	89112125	89112125	Human	1	name
405016970	CV2925629	single nucleotide variant	NM_001243279.3(ACSF3):c.477G>C (p.Val159=)	Combined malonic and methylmalonic acidemia [RCV003527834]	likely benign	16	89101158	89101158	Human	1	name
405018032	CV2930062	single nucleotide variant	NM_001243279.3(ACSF3):c.474G>C (p.Pro158=)	Combined malonic and methylmalonic acidemia [RCV003527937]	likely benign	16	89101155	89101155	Human	1	name
405017703	CV2932643	deletion	NM_001243279.3(ACSF3):c.238del (p.Gln80fs)	Combined malonic and methylmalonic acidemia [RCV003527903]	pathogenic	16	89100917	89100917	Human	1	name
402484179	CV2937023	single nucleotide variant	NM_001243279.3(ACSF3):c.582C>T (p.Asn194=)	Combined malonic and methylmalonic acidemia [RCV003643113]	likely benign	16	89101263	89101263	Human	1	name
402484452	CV2944363	single nucleotide variant	NM_001243279.3(ACSF3):c.723G>T (p.Val241=)	Combined malonic and methylmalonic acidemia [RCV003643138]	likely benign	16	89102660	89102660	Human	1	name
402487735	CV2958358	single nucleotide variant	NM_001243279.3(ACSF3):c.423C>G (p.Ser141=)	Combined malonic and methylmalonic acidemia [RCV003643299]	likely benign	16	89101104	89101104	Human	1	name
402491408	CV2982393	single nucleotide variant	NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)	Combined malonic and methylmalonic acidemia [RCV003643871]	likely benign	16	89114354	89114354	Human	1	name
402492891	CV2995689	single nucleotide variant	NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)	Combined malonic and methylmalonic acidemia [RCV003644030]	likely benign	16	89101314	89101314	Human	1	name
402494183	CV3011883	single nucleotide variant	NM_001243279.3(ACSF3):c.837C>T (p.Phe279=)	Combined malonic and methylmalonic acidemia [RCV003644169]	likely benign	16	89112106	89112106	Human	1	name
402496813	CV3024247	single nucleotide variant	NM_001243279.3(ACSF3):c.363G>A (p.Val121=)	Combined malonic and methylmalonic acidemia [RCV003644459]	likely benign	16	89101044	89101044	Human	1	name
402495738	CV3024981	deletion	NM_001243279.3(ACSF3):c.1366+11_1366+16del	Combined malonic and methylmalonic acidemia [RCV003644346]	likely benign	16	89133269	89133274	Human	1	name
402496696	CV3030527	single nucleotide variant	NM_001243279.3(ACSF3):c.771T>A (p.Pro257=)	Combined malonic and methylmalonic acidemia [RCV003644448]	likely benign	16	89102708	89102708	Human	1	name
402478603	CV3036934	single nucleotide variant	NM_001243279.3(ACSF3):c.714C>T (p.Ile238=)	Combined malonic and methylmalonic acidemia [RCV003642434]	likely benign	16	89102651	89102651	Human	1	name
402478457	CV3039266	single nucleotide variant	NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)	Combined malonic and methylmalonic acidemia [RCV003642416]	likely benign	16	89101293	89101293	Human	1	name
402480337	CV3060245	single nucleotide variant	NM_001243279.3(ACSF3):c.789C>G (p.Thr263=)	Combined malonic and methylmalonic acidemia [RCV003642651]	likely benign	16	89102726	89102726	Human	1	name
402480660	CV3061279	single nucleotide variant	NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)	Combined malonic and methylmalonic acidemia [RCV003642691]	likely benign	16	89101338	89101338	Human	1	name
402487239	CV3080428	single nucleotide variant	NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)	Combined malonic and methylmalonic acidemia [RCV003643454]	likely benign	16	89100984	89100984	Human	1	name
405225334	CV3142342	single nucleotide variant	NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)	Combined malonic and methylmalonic acidemia [RCV003847881]	likely benign	16	89101182	89101182	Human	1	name
405186230	CV3156371	single nucleotide variant	NM_001243279.3(ACSF3):c.453G>A (p.Glu151=)	Combined malonic and methylmalonic acidemia [RCV003859249]	likely benign	16	89101134	89101134	Human	1	name
404993418	CV3176448	single nucleotide variant	NM_001243279.3(ACSF3):c.876A>G (p.Ala292=)	Combined malonic and methylmalonic acidemia [RCV003881880]	likely benign	16	89112145	89112145	Human	1	name
404986656	CV3179672	single nucleotide variant	NM_001243279.3(ACSF3):c.693A>G (p.Ala231=)	Combined malonic and methylmalonic acidemia [RCV003881149]	likely benign	16	89102630	89102630	Human	1	name
405866607	CV3400982	single nucleotide variant	NM_001243279.3(ACSF3):c.83G>A (p.Gly28Glu)	Combined malonic and methylmalonic acidemia [RCV004577097]	uncertain significance	16	89100764	89100764	Human	1	name
597637332	CV3637000	single nucleotide variant	NM_001243279.3(ACSF3):c.71C>T (p.Ala24Val)	Inborn genetic diseases [RCV004970148]	likely benign	16	89100752	89100752	Human	1	name
12841038	CV374720	single nucleotide variant	NM_001243279.3(ACSF3):c.996A>T (p.Ser332=)	Combined malonic and methylmalonic acidemia [RCV001511912]\|Methylmalonic acidemia [RCV001274018]\|not provided [RCV004711038]\|not specified [RCV000431871]	benign	16	89114357	89114357	Human	3	name
12840695	CV375617	single nucleotide variant	NM_001243279.3(ACSF3):c.411C>T (p.Val137=)	ACSF3-related disorder [RCV003902556]\|Combined malonic and methylmalonic acidemia [RCV000887895]\|not specified [RCV000431204]	benign\|likely benign	16	89101092	89101092	Human	1	name , trait , alternate_id
12834916	CV375764	single nucleotide variant	NM_001243279.3(ACSF3):c.756C>T (p.Asn252=)	Combined malonic and methylmalonic acidemia [RCV000895214]\|not provided [RCV003418128]\|not specified [RCV000420768]	likely benign	16	89102693	89102693	Human	1	name
12833157	CV375770	single nucleotide variant	NM_001243279.3(ACSF3):c.852G>A (p.Thr284=)	Combined malonic and methylmalonic acidemia [RCV000966249]\|not specified [RCV000417986]	benign\|likely benign	16	89112121	89112121	Human	1	name
597853881	CV3805882	single nucleotide variant	NM_001243279.3(ACSF3):c.495C>T (p.Val165=)	Combined malonic and methylmalonic acidemia [RCV005145812]	likely benign	16	89101176	89101176	Human	1	name
597895761	CV3810446	single nucleotide variant	NM_001243279.3(ACSF3):c.501G>T (p.Leu167=)	Combined malonic and methylmalonic acidemia [RCV005151971]	likely benign	16	89101182	89101182	Human	1	name
12854351	CV384520	single nucleotide variant	NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	Combined malonic and methylmalonic acidemia [RCV001526740]\|Global developmental delay [RCV000449552]	uncertain significance	16	89100712	89100712	Human	3	name
597905094	CV3846270	single nucleotide variant	NM_001243279.3(ACSF3):c.606C>T (p.Thr202=)	Combined malonic and methylmalonic acidemia [RCV005181893]	likely benign	16	89101287	89101287	Human	1	name
13539614	CV506592	single nucleotide variant	NM_001243279.3(ACSF3):c.327C>T (p.Val109=)	Combined malonic and methylmalonic acidemia [RCV000917775]\|not specified [RCV000613521]	likely benign	16	89101008	89101008	Human	1	name
13838150	CV589446	single nucleotide variant	NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)	Combined malonic and methylmalonic acidemia [RCV002535394]\|Inborn genetic diseases [RCV003279039]\|not provided [RCV000734766]	uncertain significance	16	89100761	89100761	Human	2	name
14743525	CV656395	single nucleotide variant	NM_001243279.3(ACSF3):c.357C>T (p.Gly119=)	Combined malonic and methylmalonic acidemia [RCV001473315]\|Methylmalonic acidemia [RCV001278439]\|not provided [RCV000842120]	likely benign\|uncertain significance	16	89101038	89101038	Human	3	name
15157144	CV715199	single nucleotide variant	NM_001243279.3(ACSF3):c.390C>T (p.Pro130=)	Combined malonic and methylmalonic acidemia [RCV000969253]\|Methylmalonic acidemia [RCV001279210]	likely benign\|uncertain significance	16	89101071	89101071	Human	3	name
15179449	CV715200	single nucleotide variant	NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)	ACSF3-related disorder [RCV003936178]\|Combined malonic and methylmalonic acidemia [RCV000973912]	benign\|likely benign	16	89101314	89101314	Human	1	name , trait , alternate_id
15108562	CV726926	single nucleotide variant	NM_001243279.3(ACSF3):c.387T>C (p.His129=)	Combined malonic and methylmalonic acidemia [RCV002065600]	likely benign	16	89101068	89101068	Human	1	name
15100600	CV726927	single nucleotide variant	NM_001243279.3(ACSF3):c.417C>T (p.Cys139=)	Combined malonic and methylmalonic acidemia [RCV000892136]	likely benign	16	89101098	89101098	Human	1	name
15184335	CV726928	single nucleotide variant	NM_001243279.3(ACSF3):c.645G>A (p.Thr215=)	Combined malonic and methylmalonic acidemia [RCV000886423]	likely benign	16	89101326	89101326	Human	1	name
15187821	CV726929	single nucleotide variant	NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)	ACSF3-related disorder [RCV003948384]\|Combined malonic and methylmalonic acidemia [RCV000887359]	likely benign	16	89102609	89102609	Human	1	name , trait , alternate_id
15151806	CV726930	single nucleotide variant	NM_001243279.3(ACSF3):c.720C>T (p.His240=)	ACSF3-related disorder [RCV003967963]\|Combined malonic and methylmalonic acidemia [RCV000879675]	likely benign	16	89102657	89102657	Human	1	name , trait , alternate_id
15157414	CV726931	single nucleotide variant	NM_001243279.3(ACSF3):c.933G>A (p.Pro311=)	ACSF3-related disorder [RCV003955815]\|Combined malonic and methylmalonic acidemia [RCV000880815]	likely benign	16	89112202	89112202	Human	1	name , trait , alternate_id
15123843	CV740501	single nucleotide variant	NM_001243279.3(ACSF3):c.760C>T (p.Leu254=)	Combined malonic and methylmalonic acidemia [RCV001456415]	likely benign	16	89102697	89102697	Human	1	name
15114983	CV755536	single nucleotide variant	NM_001243279.3(ACSF3):c.480C>T (p.Val160=)	ACSF3-related disorder [RCV003913072]\|Combined malonic and methylmalonic acidemia [RCV001271492]	likely benign\|uncertain significance	16	89101161	89101161	Human	1	name , trait , alternate_id
15167006	CV755537	single nucleotide variant	NM_001243279.3(ACSF3):c.618G>T (p.Thr206=)	Combined malonic and methylmalonic acidemia [RCV001411760]	likely benign	16	89101299	89101299	Human	1	name
15137317	CV755538	single nucleotide variant	NM_001243279.3(ACSF3):c.705C>T (p.Asp235=)	Combined malonic and methylmalonic acidemia [RCV000921151]	likely benign	16	89102642	89102642	Human	1	name
15102820	CV755539	single nucleotide variant	NM_001243279.3(ACSF3):c.753C>G (p.Val251=)	not provided [RCV000915041]	likely benign	16	89102690	89102690	Human		name
15200083	CV755540	single nucleotide variant	NM_001243279.3(ACSF3):c.936C>T (p.His312=)	Combined malonic and methylmalonic acidemia [RCV000912739]	likely benign	16	89112205	89112205	Human	1	name
15135215	CV771186	single nucleotide variant	NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)	Combined malonic and methylmalonic acidemia [RCV000942881]\|Methylmalonic acidemia [RCV001278436]\|not provided [RCV003411901]	likely benign	16	89100993	89100993	Human	3	name
15130735	CV771187	single nucleotide variant	NM_001243279.3(ACSF3):c.579G>A (p.Arg193=)	Combined malonic and methylmalonic acidemia [RCV000942101]	benign	16	89101260	89101260	Human	1	name
15122679	CV771188	single nucleotide variant	NM_001243279.3(ACSF3):c.588C>T (p.Gly196=)	Combined malonic and methylmalonic acidemia [RCV000940722]	likely benign	16	89101269	89101269	Human	1	name
15187937	CV771189	single nucleotide variant	NM_001243279.3(ACSF3):c.708C>T (p.Asp236=)	Combined malonic and methylmalonic acidemia [RCV000931806]	likely benign	16	89102645	89102645	Human	1	name
15130808	CV771190	single nucleotide variant	NM_001243279.3(ACSF3):c.738C>T (p.His246=)	Combined malonic and methylmalonic acidemia [RCV000942113]	likely benign	16	89102675	89102675	Human	1	name
15100374	CV771191	single nucleotide variant	NM_001243279.3(ACSF3):c.759G>A (p.Ala253=)	ACSF3-related disorder [RCV003925821]\|Combined malonic and methylmalonic acidemia [RCV000936624]	likely benign	16	89102696	89102696	Human	1	name , trait , alternate_id
15201743	CV771192	single nucleotide variant	NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)	Combined malonic and methylmalonic acidemia [RCV000935748]\|Methylmalonic acidemia [RCV001279222]	likely benign	16	89112124	89112124	Human	3	name
15108639	CV785429	single nucleotide variant	NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)	Combined malonic and methylmalonic acidemia [RCV001497630]	likely benign	16	89101023	89101023	Human	1	name
15133780	CV785430	single nucleotide variant	NM_001243279.3(ACSF3):c.438C>T (p.Val146=)	Combined malonic and methylmalonic acidemia [RCV000981610]	likely benign	16	89101119	89101119	Human	1	name
15113467	CV785431	single nucleotide variant	NM_001243279.3(ACSF3):c.723G>A (p.Val241=)	Combined malonic and methylmalonic acidemia [RCV000978025]	likely benign	16	89102660	89102660	Human	1	name
15130804	CV785432	single nucleotide variant	NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)	Combined malonic and methylmalonic acidemia [RCV001274044]	likely benign\|uncertain significance	16	89102663	89102663	Human	1	name
26921516	CV844482	deletion	NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	Combined malonic and methylmalonic acidemia [RCV001061070]	pathogenic\|likely pathogenic	16	89100927	89100927	Human	1	name
38461023	CV937658	deletion	NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	Combined malonic and methylmalonic acidemia [RCV001211942]	pathogenic\|likely pathogenic	16	89100940	89100940	Human	1	name
38464833	CV957914	single nucleotide variant	NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)	Combined malonic and methylmalonic acidemia [RCV001247454]\|Inborn genetic diseases [RCV003263902]	uncertain significance	16	89100767	89100767	Human	2	name
40905269	CV979822	single nucleotide variant	NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	Combined malonic and methylmalonic acidemia [RCV002499471]\|Inborn genetic diseases [RCV002541683]\|Methylmalonic acidemia [RCV001278422]	conflicting interpretations of pathogenicity\|uncertain significance	16	89100724	89100724	Human	4	name
40905926	CV979838	single nucleotide variant	NM_001243279.3(ACSF3):c.507G>A (p.Pro169=)	Combined malonic and methylmalonic acidemia [RCV002069451]\|Methylmalonic acidemia [RCV001279213]	likely benign\|uncertain significance	16	89101188	89101188	Human	3	name
40905930	CV979842	single nucleotide variant	NM_001243279.3(ACSF3):c.561C>T (p.Val187=)	Combined malonic and methylmalonic acidemia [RCV001462644]\|Methylmalonic acidemia [RCV001279217]	likely benign\|uncertain significance	16	89101242	89101242	Human	3	name
40905931	CV979843	single nucleotide variant	NM_001243279.3(ACSF3):c.618G>A (p.Thr206=)	Combined malonic and methylmalonic acidemia [RCV002069452]\|Methylmalonic acidemia [RCV001279218]	likely benign\|uncertain significance	16	89101299	89101299	Human	3	name
40905934	CV979846	single nucleotide variant	NM_001243279.3(ACSF3):c.825T>C (p.Val275=)	Methylmalonic acidemia [RCV001279221]	uncertain significance	16	89112094	89112094	Human	2	name
126744876	CV1018180	single nucleotide variant	NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)	Combined malonic and methylmalonic acidemia [RCV001330533]\|not provided [RCV004692531]	uncertain significance	16	89100830	89100830	Human	1	name
127247123	CV1063784	single nucleotide variant	NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	ACSF3-related disorder [RCV003399204]\|Combined malonic and methylmalonic acidemia [RCV001384669]	pathogenic\|likely pathogenic	16	89100919	89100919	Human	1	name , trait , alternate_id
127267878	CV1063787	duplication	NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	Combined malonic and methylmalonic acidemia [RCV001389079]	pathogenic\|likely pathogenic	16	89102693	89102694	Human	1	name
127250632	CV1082561	single nucleotide variant	NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)	Combined malonic and methylmalonic acidemia [RCV001399914]	likely benign	16	89114411	89114411	Human	1	name
127240192	CV1082562	single nucleotide variant	NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)	Combined malonic and methylmalonic acidemia [RCV001392881]	likely benign	16	89114411	89114411	Human	1	name
127233759	CV1082563	single nucleotide variant	NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)	Combined malonic and methylmalonic acidemia [RCV001414032]	likely benign	16	89114483	89114483	Human	1	name
127283816	CV1082565	single nucleotide variant	NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)	Combined malonic and methylmalonic acidemia [RCV001412031]	likely benign	16	89120838	89120838	Human	1	name
127256313	CV1082566	single nucleotide variant	NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)	Combined malonic and methylmalonic acidemia [RCV001419024]	likely benign	16	89120898	89120898	Human	1	name
127282694	CV1082568	single nucleotide variant	NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)	Combined malonic and methylmalonic acidemia [RCV001411290]	likely benign	16	89145292	89145292	Human	1	name
127245967	CV1082569	single nucleotide variant	NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)	Combined malonic and methylmalonic acidemia [RCV001398849]	likely benign	16	89145355	89145355	Human	1	name
127241988	CV1082571	single nucleotide variant	NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)	Combined malonic and methylmalonic acidemia [RCV001393265]	likely benign	16	89146023	89146023	Human	1	name
127244827	CV1082572	single nucleotide variant	NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)	Combined malonic and methylmalonic acidemia [RCV001393773]	likely benign	16	89154171	89154171	Human	1	name
127233996	CV1082573	single nucleotide variant	NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)	Combined malonic and methylmalonic acidemia [RCV001396337]	likely benign	16	89154174	89154174	Human	1	name
127278527	CV1082574	single nucleotide variant	NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)	Combined malonic and methylmalonic acidemia [RCV001408514]	likely benign	16	89154186	89154186	Human	1	name
127280275	CV1082575	single nucleotide variant	NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)	Combined malonic and methylmalonic acidemia [RCV001409689]	likely benign	16	89154206	89154206	Human	1	name
127250351	CV1104354	single nucleotide variant	NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)	Combined malonic and methylmalonic acidemia [RCV001425359]	likely benign	16	89114441	89114441	Human	1	name
127282708	CV1104356	single nucleotide variant	NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)	Combined malonic and methylmalonic acidemia [RCV001448049]	likely benign	16	89120901	89120901	Human	1	name
127281339	CV1104357	single nucleotide variant	NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)	Combined malonic and methylmalonic acidemia [RCV001447081]	likely benign	16	89120907	89120907	Human	1	name
127280919	CV1104358	single nucleotide variant	NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)	Combined malonic and methylmalonic acidemia [RCV001446797]	likely benign	16	89133147	89133147	Human	1	name
127243581	CV1104359	single nucleotide variant	NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)	Combined malonic and methylmalonic acidemia [RCV001423978]	likely benign	16	89133153	89133153	Human	1	name
127241162	CV1104360	single nucleotide variant	NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)	Combined malonic and methylmalonic acidemia [RCV001423511]	likely benign	16	89133195	89133195	Human	1	name
127252498	CV1104362	single nucleotide variant	NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)	Combined malonic and methylmalonic acidemia [RCV001436813]	likely benign	16	89145367	89145367	Human	1	name
127242377	CV1104363	single nucleotide variant	NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)	Combined malonic and methylmalonic acidemia [RCV001434635]	likely benign	16	89145969	89145969	Human	1	name
127330769	CV1125771	single nucleotide variant	NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)	Combined malonic and methylmalonic acidemia [RCV001471122]	likely benign	16	89114393	89114393	Human	1	name
127297212	CV1125772	single nucleotide variant	NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)	Combined malonic and methylmalonic acidemia [RCV001460200]	likely benign	16	89114414	89114414	Human	1	name
127335447	CV1125773	single nucleotide variant	NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)	Combined malonic and methylmalonic acidemia [RCV001474304]	likely benign	16	89114441	89114441	Human	1	name
127293295	CV1125774	single nucleotide variant	NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)	Combined malonic and methylmalonic acidemia [RCV001476564]	likely benign	16	89114453	89114453	Human	1	name
127296842	CV1125775	single nucleotide variant	NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)	Combined malonic and methylmalonic acidemia [RCV001477470]	likely benign	16	89114453	89114453	Human	1	name
127336306	CV1125776	single nucleotide variant	NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)	Combined malonic and methylmalonic acidemia [RCV001474875]	likely benign	16	89114468	89114468	Human	1	name
127329657	CV1125777	single nucleotide variant	NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)	Combined malonic and methylmalonic acidemia [RCV001470356]	likely benign	16	89114468	89114468	Human	1	name
127335514	CV1125779	single nucleotide variant	NM_001243279.3(ACSF3):c.1212C>T (p.His404=)	Combined malonic and methylmalonic acidemia [RCV001474340]	likely benign	16	89120886	89120886	Human	1	name
127299489	CV1125780	single nucleotide variant	NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)	Combined malonic and methylmalonic acidemia [RCV001453602]	likely benign	16	89120910	89120910	Human	1	name
127310273	CV1125781	single nucleotide variant	NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)	Combined malonic and methylmalonic acidemia [RCV001456575]	likely benign	16	89133255	89133255	Human	1	name
127321526	CV1125784	single nucleotide variant	NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)	Combined malonic and methylmalonic acidemia [RCV001467298]	likely benign	16	89145349	89145349	Human	1	name
127296942	CV1125786	single nucleotide variant	NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)	Combined malonic and methylmalonic acidemia [RCV001477493]	likely benign	16	89146032	89146032	Human	1	name
127335465	CV1125787	single nucleotide variant	NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)	Combined malonic and methylmalonic acidemia [RCV001474314]	likely benign	16	89146041	89146041	Human	1	name
127299860	CV1125789	single nucleotide variant	NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	ACSF3-related disorder [RCV004751988]\|Combined malonic and methylmalonic acidemia [RCV001460962]\|Inborn genetic diseases [RCV004601503]	likely benign\|conflicting interpretations of pathogenicity	16	89154147	89154147	Human	2	name , trait , alternate_id
127337456	CV1125790	single nucleotide variant	NM_001243279.3(ACSF3):c.1722C>T (p.His574=)	Combined malonic and methylmalonic acidemia [RCV001475685]	likely benign	16	89154198	89154198	Human	1	name
127311585	CV1125791	single nucleotide variant	NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)	Combined malonic and methylmalonic acidemia [RCV001456948]	likely benign	16	89154204	89154204	Human	1	name
127313993	CV1146650	single nucleotide variant	NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)	Combined malonic and methylmalonic acidemia [RCV001502346]	likely benign	16	89114402	89114402	Human	1	name
127329957	CV1146651	single nucleotide variant	NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)	Combined malonic and methylmalonic acidemia [RCV001487787]	likely benign	16	89114477	89114477	Human	1	name
127331619	CV1146652	single nucleotide variant	NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)	Combined malonic and methylmalonic acidemia [RCV001488941]	likely benign	16	89133189	89133189	Human	1	name
127334887	CV1146653	single nucleotide variant	NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)	Combined malonic and methylmalonic acidemia [RCV001491162]	likely benign	16	89145268	89145268	Human	1	name
127330009	CV1146654	single nucleotide variant	NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)	Combined malonic and methylmalonic acidemia [RCV001487813]	likely benign	16	89145280	89145280	Human	1	name
127323587	CV1146655	single nucleotide variant	NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)	Combined malonic and methylmalonic acidemia [RCV001505489]	likely benign	16	89145295	89145295	Human	1	name
127287977	CV1146656	single nucleotide variant	NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)	Combined malonic and methylmalonic acidemia [RCV001495059]	likely benign	16	89145391	89145391	Human	1	name
127319571	CV1146658	single nucleotide variant	NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)	Combined malonic and methylmalonic acidemia [RCV001483926]	likely benign	16	89146017	89146017	Human	1	name
127329341	CV1146659	single nucleotide variant	NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)	Combined malonic and methylmalonic acidemia [RCV001487359]	likely benign	16	89146023	89146023	Human	1	name
127334813	CV1146660	single nucleotide variant	NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)	Combined malonic and methylmalonic acidemia [RCV001491123]	likely benign	16	89154108	89154108	Human	1	name
151870190	CV1516884	single nucleotide variant	NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)	Combined malonic and methylmalonic acidemia [RCV001981196]	uncertain significance	16	89100902	89100902	Human	1	name
152136988	CV1528563	single nucleotide variant	NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=)	Combined malonic and methylmalonic acidemia [RCV002100251]	likely benign	16	89133241	89133241	Human	1	name
152051582	CV1538733	single nucleotide variant	NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=)	Combined malonic and methylmalonic acidemia [RCV002189477]	likely benign	16	89114451	89114451	Human	1	name
152026149	CV1540581	single nucleotide variant	NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=)	Combined malonic and methylmalonic acidemia [RCV002104458]	likely benign	16	89120877	89120877	Human	1	name
152138419	CV1549522	single nucleotide variant	NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=)	Combined malonic and methylmalonic acidemia [RCV002156438]	likely benign	16	89120883	89120883	Human	1	name
152149129	CV1552176	single nucleotide variant	NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=)	Combined malonic and methylmalonic acidemia [RCV002157898]	likely benign	16	89133201	89133201	Human	1	name
152136155	CV1555272	single nucleotide variant	NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=)	Combined malonic and methylmalonic acidemia [RCV002119731]	likely benign	16	89114402	89114402	Human	1	name
152136249	CV1555327	single nucleotide variant	NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=)	Combined malonic and methylmalonic acidemia [RCV002119743]	likely benign	16	89120889	89120889	Human	1	name
152062392	CV1558529	single nucleotide variant	NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=)	Combined malonic and methylmalonic acidemia [RCV002128495]	likely benign	16	89145978	89145978	Human	1	name
152168591	CV1558821	single nucleotide variant	NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=)	Combined malonic and methylmalonic acidemia [RCV002142501]	likely benign	16	89145310	89145310	Human	1	name
152082604	CV1558872	single nucleotide variant	NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=)	Combined malonic and methylmalonic acidemia [RCV002149509]	likely benign	16	89145337	89145337	Human	1	name
152138713	CV1562690	single nucleotide variant	NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=)	Combined malonic and methylmalonic acidemia [RCV002100468]	likely benign	16	89114372	89114372	Human	1	name
152134958	CV1564898	single nucleotide variant	NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=)	Combined malonic and methylmalonic acidemia [RCV002199823]	likely benign	16	89145310	89145310	Human	1	name
152029416	CV1568269	single nucleotide variant	NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=)	ACSF3-related disorder [RCV003958698]\|Combined malonic and methylmalonic acidemia [RCV002105577]	likely benign	16	89114459	89114459	Human	1	name , trait , alternate_id
152134480	CV1576482	single nucleotide variant	NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=)	Combined malonic and methylmalonic acidemia [RCV002119512]	likely benign	16	89154195	89154195	Human	1	name
152172488	CV1599147	single nucleotide variant	NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=)	Combined malonic and methylmalonic acidemia [RCV002143794]	likely benign	16	89154105	89154105	Human	1	name
152042611	CV1603508	single nucleotide variant	NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=)	Combined malonic and methylmalonic acidemia [RCV002071214]	likely benign	16	89154141	89154141	Human	1	name
152136442	CV1603562	single nucleotide variant	NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=)	Combined malonic and methylmalonic acidemia [RCV002218780]	likely benign	16	89114480	89114480	Human	1	name
152087309	CV1608515	single nucleotide variant	NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=)	Combined malonic and methylmalonic acidemia [RCV002212221]	likely benign	16	89145325	89145325	Human	1	name
152162273	CV1608815	single nucleotide variant	NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=)	Combined malonic and methylmalonic acidemia [RCV002104023]	likely benign	16	89145307	89145307	Human	1	name
152043341	CV1621852	single nucleotide variant	NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=)	Combined malonic and methylmalonic acidemia [RCV002108037]	likely benign	16	89114366	89114366	Human	1	name
152042945	CV1624321	single nucleotide variant	NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=)	Combined malonic and methylmalonic acidemia [RCV002126322]	likely benign	16	89145391	89145391	Human	1	name
152048213	CV1627509	single nucleotide variant	NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=)	Combined malonic and methylmalonic acidemia [RCV002108603]	likely benign	16	89120868	89120868	Human	1	name
152075290	CV1635387	single nucleotide variant	NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=)	Combined malonic and methylmalonic acidemia [RCV002092141]	likely benign	16	89133156	89133156	Human	1	name
152162422	CV1635740	single nucleotide variant	NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=)	Combined malonic and methylmalonic acidemia [RCV002203666]	likely benign	16	89120862	89120862	Human	1	name
152165471	CV1654604	single nucleotide variant	NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=)	Combined malonic and methylmalonic acidemia [RCV002181741]	likely benign	16	89133216	89133216	Human	1	name
152066931	CV1660018	single nucleotide variant	NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=)	Combined malonic and methylmalonic acidemia [RCV002147554]	likely benign	16	89145268	89145268	Human	1	name
152081107	CV1663751	single nucleotide variant	NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=)	Combined malonic and methylmalonic acidemia [RCV002149321]	likely benign	16	89120904	89120904	Human	1	name
152113056	CV1665179	single nucleotide variant	NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=)	Combined malonic and methylmalonic acidemia [RCV002097111]	likely benign	16	89154132	89154132	Human	1	name
156328334	CV1881059	single nucleotide variant	NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)	Combined malonic and methylmalonic acidemia [RCV003063542]\|Inborn genetic diseases [RCV005310888]	uncertain significance	16	89100881	89100881	Human	2	name
156053268	CV1881858	single nucleotide variant	NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)	Combined malonic and methylmalonic acidemia [RCV003078955]	uncertain significance	16	89100901	89100901	Human	1	name
156295945	CV1888598	single nucleotide variant	NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)	Combined malonic and methylmalonic acidemia [RCV003061661]	uncertain significance	16	89145400	89145400	Human	1	name
156280207	CV1896727	single nucleotide variant	NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)	Combined malonic and methylmalonic acidemia [RCV003087086]	uncertain significance	16	89100879	89100879	Human	1	name
156320624	CV1897805	single nucleotide variant	NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=)	Combined malonic and methylmalonic acidemia [RCV002579215]	likely benign	16	89145960	89145960	Human	1	name
156403218	CV1904419	single nucleotide variant	NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=)	Combined malonic and methylmalonic acidemia [RCV002585166]	likely benign	16	89154120	89154120	Human	1	name
156378628	CV1906978	single nucleotide variant	NM_001243279.3(ACSF3):c.1560G>C (p.Val520=)	Combined malonic and methylmalonic acidemia [RCV003093087]	likely benign	16	89145996	89145996	Human	1	name
155941676	CV1910217	single nucleotide variant	NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)	Combined malonic and methylmalonic acidemia [RCV002615677]	uncertain significance	16	89100840	89100840	Human	1	name
156300486	CV1929571	single nucleotide variant	NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=)	Combined malonic and methylmalonic acidemia [RCV002647614]	likely benign	16	89154111	89154111	Human	1	name
156215785	CV1931097	single nucleotide variant	NM_001243279.3(ACSF3):c.1638G>A (p.Val546=)	Combined malonic and methylmalonic acidemia [RCV002644192]	likely benign	16	89154114	89154114	Human	1	name
156435372	CV1940731	single nucleotide variant	NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=)	Combined malonic and methylmalonic acidemia [RCV003104834]	likely benign	16	89145319	89145319	Human	1	name
156444033	CV1941315	single nucleotide variant	NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)	Combined malonic and methylmalonic acidemia [RCV003114950]	uncertain significance	16	89100898	89100898	Human	1	name
156449002	CV1944256	single nucleotide variant	NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=)	Combined malonic and methylmalonic acidemia [RCV003121111]	likely benign	16	89154183	89154183	Human	1	name
156434095	CV1946813	single nucleotide variant	NM_001243279.3(ACSF3):c.1512G>A (p.Val504=)	Combined malonic and methylmalonic acidemia [RCV003104277]	likely benign	16	89145948	89145948	Human	1	name
156394422	CV1958752	single nucleotide variant	NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)	Combined malonic and methylmalonic acidemia [RCV002584215]	uncertain significance	16	89100791	89100791	Human	1	name
156130216	CV1962666	single nucleotide variant	NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=)	Combined malonic and methylmalonic acidemia [RCV002572199]	likely benign	16	89154130	89154130	Human	1	name
156006256	CV1984501	single nucleotide variant	NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)	Combined malonic and methylmalonic acidemia [RCV002618681]	likely benign	16	89114414	89114414	Human	1	name
10056150	CV200305	single nucleotide variant	NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu)	Combined malonic and methylmalonic acidemia [RCV002516961]\|Methylmalonic acidemia [RCV001278424]	likely benign\|uncertain significance	16	89100800	89100800	Human	3	name
156206444	CV2021485	single nucleotide variant	NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=)	Combined malonic and methylmalonic acidemia [RCV002711592]	likely benign	16	89133159	89133159	Human	1	name
155975574	CV2031977	single nucleotide variant	NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=)	Combined malonic and methylmalonic acidemia [RCV002755086]	likely benign	16	89145346	89145346	Human	1	name
156098716	CV2050997	single nucleotide variant	NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=)	Combined malonic and methylmalonic acidemia [RCV002824474]	likely benign	16	89145960	89145960	Human	1	name
156311892	CV2063473	single nucleotide variant	NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)	Combined malonic and methylmalonic acidemia [RCV002834171]	uncertain significance	16	89100959	89100959	Human	1	name
156004172	CV2064666	single nucleotide variant	NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=)	Combined malonic and methylmalonic acidemia [RCV002843551]	likely benign	16	89133249	89133249	Human	1	name
156129959	CV2072945	single nucleotide variant	NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=)	Combined malonic and methylmalonic acidemia [RCV002825633]	likely benign	16	89145990	89145990	Human	1	name
155982229	CV2100946	single nucleotide variant	NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=)	Combined malonic and methylmalonic acidemia [RCV002881989]	likely benign	16	89145382	89145382	Human	1	name
156005134	CV2126529	single nucleotide variant	NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=)	Combined malonic and methylmalonic acidemia [RCV002975369]	likely benign	16	89145313	89145313	Human	1	name
156158705	CV2147207	single nucleotide variant	NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=)	Combined malonic and methylmalonic acidemia [RCV003023112]	likely benign	16	89154132	89154132	Human	1	name
156106168	CV2149421	single nucleotide variant	NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)	Combined malonic and methylmalonic acidemia [RCV003021224]	likely benign	16	89114423	89114423	Human	1	name
156107485	CV2149512	single nucleotide variant	NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=)	Combined malonic and methylmalonic acidemia [RCV003021271]	likely benign	16	89120883	89120883	Human	1	name
156324155	CV2163255	single nucleotide variant	NM_001243279.3(ACSF3):c.1155A>G (p.Val385=)	Combined malonic and methylmalonic acidemia [RCV003029375]	likely benign	16	89120829	89120829	Human	1	name
156073463	CV2165307	single nucleotide variant	NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=)	Combined malonic and methylmalonic acidemia [RCV003037639]	likely benign	16	89145319	89145319	Human	1	name
156305599	CV2167503	single nucleotide variant	NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)	Combined malonic and methylmalonic acidemia [RCV003045762]	likely benign	16	89114481	89114481	Human	1	name
156316946	CV2193130	single nucleotide variant	NM_001243279.3(ACSF3):c.183C>G (p.Asp61Glu)	Inborn genetic diseases [RCV002648747]	uncertain significance	16	89100864	89100864	Human	1	name
155925857	CV2208053	single nucleotide variant	NM_001243279.3(ACSF3):c.229C>T (p.Arg77Cys)	Inborn genetic diseases [RCV002683493]	uncertain significance	16	89100910	89100910	Human	1	name
156196844	CV2367270	single nucleotide variant	NM_001243279.3(ACSF3):c.268G>A (p.Gly90Ser)	Inborn genetic diseases [RCV002666227]	uncertain significance	16	89100949	89100949	Human	1	name
401941118	CV2838831	duplication	NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)	Combined malonic and methylmalonic acidemia [RCV003460364]	likely pathogenic	16	89101240	89101241	Human	1	name
401941129	CV2838842	single nucleotide variant	NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)	Combined malonic and methylmalonic acidemia [RCV003460375]	likely pathogenic	16	89100800	89100800	Human	1	name
401949742	CV2838926	single nucleotide variant	NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)	Combined malonic and methylmalonic acidemia [RCV003475613]	likely pathogenic	16	89100897	89100897	Human	1	name
401949752	CV2838936	deletion	NM_001243279.3(ACSF3):c.653del (p.Asn218fs)	Combined malonic and methylmalonic acidemia [RCV003475623]	likely pathogenic	16	89101331	89101331	Human	1	name
401948379	CV2838984	deletion	NM_001243279.3(ACSF3):c.967del (p.Glu323fs)	Combined malonic and methylmalonic acidemia [RCV003466683]	likely pathogenic	16	89112236	89112236	Human	1	name
405020887	CV2863474	single nucleotide variant	NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=)	Combined malonic and methylmalonic acidemia [RCV003528478]	likely benign	16	89146047	89146047	Human	1	name
405027574	CV2876848	single nucleotide variant	NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=)	Combined malonic and methylmalonic acidemia [RCV003529116]	likely benign	16	89145981	89145981	Human	1	name
405034271	CV2907877	single nucleotide variant	NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=)	Combined malonic and methylmalonic acidemia [RCV003529697]	likely benign	16	89145358	89145358	Human	1	name
405033968	CV2911746	single nucleotide variant	NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=)	Combined malonic and methylmalonic acidemia [RCV003529670]	likely benign	16	89145359	89145359	Human	1	name
405035033	CV2915693	single nucleotide variant	NM_001243279.3(ACSF3):c.1716C>T (p.His572=)	Combined malonic and methylmalonic acidemia [RCV003529762]	likely benign	16	89154192	89154192	Human	1	name
405018516	CV2930145	single nucleotide variant	NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=)	Combined malonic and methylmalonic acidemia [RCV003527983]	likely benign	16	89146035	89146035	Human	1	name
405018283	CV2933546	deletion	NM_001243279.3(ACSF3):c.973del (p.Ile325fs)	Combined malonic and methylmalonic acidemia [RCV003527960]	pathogenic	16	89112237	89112237	Human	1	name
402488508	CV2967253	single nucleotide variant	NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)	Combined malonic and methylmalonic acidemia [RCV003643571]	likely benign	16	89120880	89120880	Human	1	name
402488782	CV2967968	single nucleotide variant	NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=)	Combined malonic and methylmalonic acidemia [RCV003643601]	likely benign	16	89120818	89120818	Human	1	name
402490152	CV2976868	single nucleotide variant	NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)	Combined malonic and methylmalonic acidemia [RCV003643745]	pathogenic	16	89100865	89100865	Human	1	name
402491963	CV2986900	single nucleotide variant	NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=)	Combined malonic and methylmalonic acidemia [RCV003643930]	likely benign	16	89154183	89154183	Human	1	name
402492900	CV2992040	single nucleotide variant	NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)	Combined malonic and methylmalonic acidemia [RCV003644031]	likely benign	16	89114405	89114405	Human	1	name
402492882	CV2995645	single nucleotide variant	NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)	Combined malonic and methylmalonic acidemia [RCV003644029]	likely benign	16	89145331	89145331	Human	1	name
402493820	CV2997357	single nucleotide variant	NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)	Combined malonic and methylmalonic acidemia [RCV003644131]	likely benign	16	89145999	89145999	Human	1	name
402493502	CV3000112	single nucleotide variant	NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=)	Combined malonic and methylmalonic acidemia [RCV003644096]	likely benign	16	89133141	89133141	Human	1	name
402479909	CV3056059	duplication	NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)	Combined malonic and methylmalonic acidemia [RCV003642597]	pathogenic	16	89112156	89112157	Human	1	name
402480825	CV3068700	single nucleotide variant	NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)	Combined malonic and methylmalonic acidemia [RCV003642710]	likely benign	16	89120829	89120829	Human	1	name
402486899	CV3074451	deletion	NM_001243279.3(ACSF3):c.953del (p.Arg318fs)	Combined malonic and methylmalonic acidemia [RCV003643412]	pathogenic	16	89112222	89112222	Human	1	name
402487223	CV3080322	single nucleotide variant	NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)	Combined malonic and methylmalonic acidemia [RCV003643452]	uncertain significance	16	89100924	89100924	Human	1	name
405094447	CV3134719	single nucleotide variant	NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)	Combined malonic and methylmalonic acidemia [RCV003835065]	likely benign	16	89145310	89145310	Human	1	name
405188178	CV3149239	single nucleotide variant	NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=)	Combined malonic and methylmalonic acidemia [RCV003843165]	likely benign	16	89154093	89154093	Human	1	name
405223540	CV3155018	single nucleotide variant	NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=)	Combined malonic and methylmalonic acidemia [RCV003847514]	likely benign	16	89154201	89154201	Human	1	name
402471202	CV3171510	single nucleotide variant	NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)	Combined malonic and methylmalonic acidemia [RCV003874294]	likely benign	16	89154180	89154180	Human	1	name
402477129	CV3173919	single nucleotide variant	NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)	Combined malonic and methylmalonic acidemia [RCV003875457]	likely benign	16	89114468	89114468	Human	1	name
405228630	CV3180403	single nucleotide variant	NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)	Combined malonic and methylmalonic acidemia [RCV003864824]	likely benign	16	89133192	89133192	Human	1	name
597758831	CV3715866	deletion	NM_001243279.3(ACSF3):c.947del (p.Phe316fs)	Combined malonic and methylmalonic acidemia [RCV005017889]	likely pathogenic	16	89112214	89112214	Human	1	name
12842698	CV375621	single nucleotide variant	NM_001243279.3(ACSF3):c.1239G>A (p.Lys413=)	not provided [RCV000434895]	uncertain significance	16	89120913	89120913	Human		name
12843644	CV375625	single nucleotide variant	NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=)	ACSF3-related disorder [RCV003922755]\|Combined malonic and methylmalonic acidemia [RCV000887816]\|not specified [RCV000436572]	likely benign	16	89154105	89154105	Human	1	name , trait , alternate_id
12839733	CV375794	single nucleotide variant	NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=)	Combined malonic and methylmalonic acidemia [RCV000957492]\|not provided [RCV004705563]\|not specified [RCV000429378]	benign\|likely benign	16	89120805	89120805	Human	1	name
12843880	CV377899	single nucleotide variant	NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=)	Combined malonic and methylmalonic acidemia [RCV002521742]\|not specified [RCV000437012]	likely benign	16	89114462	89114462	Human	1	name
12837873	CV377904	single nucleotide variant	NM_001243279.3(ACSF3):c.1467G>C (p.Val489=)	ACSF3-related disorder [RCV004751516]\|Combined malonic and methylmalonic acidemia [RCV000889113]\|not provided [RCV001703761]	benign\|likely benign	16	89145367	89145367	Human	1	name , trait , alternate_id
597888636	CV3859534	single nucleotide variant	NM_001243279.3(ACSF3):c.1437T>C (p.Thr479=)	Combined malonic and methylmalonic acidemia [RCV005200190]	likely benign	16	89145337	89145337	Human	1	name
13525104	CV505662	single nucleotide variant	NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=)	Combined malonic and methylmalonic acidemia [RCV001443990]\|not specified [RCV000602704]	likely benign	16	89114456	89114456	Human	1	name
13537405	CV505665	single nucleotide variant	NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=)	Combined malonic and methylmalonic acidemia [RCV000931679]\|not provided [RCV004704122]\|not specified [RCV000610360]	likely benign	16	89114474	89114474	Human	1	name
13541219	CV505666	single nucleotide variant	NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=)	ACSF3-related disorder [RCV003953018]\|Combined malonic and methylmalonic acidemia [RCV000937551]\|not specified [RCV000615852]	likely benign	16	89133162	89133162	Human	1	name , trait , alternate_id
13540643	CV505854	single nucleotide variant	NM_001243279.3(ACSF3):c.1134G>A (p.Val378=)	Combined malonic and methylmalonic acidemia [RCV000957493]\|Methylmalonic acidemia [RCV001274020]\|not provided [RCV004710142]\|not specified [RCV000614995]	benign	16	89120808	89120808	Human	3	name
13805260	CV568454	single nucleotide variant	NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)	Combined malonic and methylmalonic acidemia [RCV000685625]	uncertain significance	16	89100803	89100803	Human	1	name
14701175	CV645124	deletion	NM_001243279.3(ACSF3):c.305del (p.Cys102fs)	Combined malonic and methylmalonic acidemia [RCV000814483]	pathogenic\|likely pathogenic	16	89100986	89100986	Human	1	name
14717967	CV645129	deletion	NM_001243279.3(ACSF3):c.675del (p.Leu226fs)	Combined malonic and methylmalonic acidemia [RCV000809509]	pathogenic	16	89102610	89102610	Human	1	name
15179759	CV715201	single nucleotide variant	NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=)	Combined malonic and methylmalonic acidemia [RCV000973986]	likely benign	16	89120871	89120871	Human	1	name
15149126	CV726933	single nucleotide variant	NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)	ACSF3-related disorder [RCV003975502]\|Combined malonic and methylmalonic acidemia [RCV000879099]	likely benign	16	89145960	89145960	Human	1	name , trait , alternate_id
15185479	CV740502	single nucleotide variant	NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)	Combined malonic and methylmalonic acidemia [RCV000908541]	likely benign	16	89133138	89133138	Human	1	name
15147584	CV755541	single nucleotide variant	NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=)	Combined malonic and methylmalonic acidemia [RCV001274045]	likely benign	16	89114435	89114435	Human	1	name
15107155	CV771193	single nucleotide variant	NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=)	ACSF3-related disorder [RCV004751829]\|Combined malonic and methylmalonic acidemia [RCV000937916]\|not provided [RCV004704348]	likely benign	16	89114435	89114435	Human	1	name , trait , alternate_id
15200147	CV771194	single nucleotide variant	NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=)	Combined malonic and methylmalonic acidemia [RCV000935302]	likely benign	16	89145274	89145274	Human	1	name
15126949	CV771196	single nucleotide variant	NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)	Combined malonic and methylmalonic acidemia [RCV000941468]	benign	16	89145298	89145298	Human	1	name
15191183	CV771197	single nucleotide variant	NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=)	Combined malonic and methylmalonic acidemia [RCV001409162]	likely benign	16	89154126	89154126	Human	1	name
15193660	CV771198	single nucleotide variant	NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)	ACSF3-related disorder [RCV003942917]\|Combined malonic and methylmalonic acidemia [RCV000933425]	likely benign	16	89154180	89154180	Human	1	name , trait , alternate_id
15116092	CV785433	single nucleotide variant	NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=)	Combined malonic and methylmalonic acidemia [RCV000978531]	likely benign	16	89114453	89114453	Human	1	name
15121448	CV785434	single nucleotide variant	NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=)	Combined malonic and methylmalonic acidemia [RCV001455202]	likely benign	16	89120805	89120805	Human	1	name
15119470	CV785435	single nucleotide variant	NM_001243279.3(ACSF3):c.1476C>T (p.His492=)	Combined malonic and methylmalonic acidemia [RCV001438675]	likely benign	16	89145376	89145376	Human	1	name
26887551	CV844483	single nucleotide variant	NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)	Combined malonic and methylmalonic acidemia [RCV001044905]	pathogenic	16	89100967	89100967	Human	1	name
26915757	CV844485	deletion	NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	Combined malonic and methylmalonic acidemia [RCV001055927]\|Inborn genetic diseases [RCV002553359]	pathogenic\|likely pathogenic	16	89102739	89102739	Human	2	name
38491373	CV928004	single nucleotide variant	NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)	Combined malonic and methylmalonic acidemia [RCV001222795]	uncertain significance	16	89100972	89100972	Human	1	name
38456880	CV957915	single nucleotide variant	NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)	Combined malonic and methylmalonic acidemia [RCV001245922]\|Inborn genetic diseases [RCV002564098]	uncertain significance	16	89100932	89100932	Human	2	name
40905270	CV979823	single nucleotide variant	NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)	Combined malonic and methylmalonic acidemia [RCV001880260]\|Inborn genetic diseases [RCV004035470]\|Methylmalonic acidemia [RCV001278423]\|not provided [RCV003225173]	uncertain significance	16	89100797	89100797	Human	4	name
40905271	CV979824	single nucleotide variant	NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu)	Methylmalonic acidemia [RCV001278425]\|not specified [RCV004769993]	uncertain significance	16	89100804	89100804	Human	2	name
40905272	CV979825	single nucleotide variant	NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	Combined malonic and methylmalonic acidemia [RCV001559237]\|Methylmalonic acidemia [RCV001278426]	uncertain significance	16	89100811	89100811	Human	3	name
40905273	CV979826	single nucleotide variant	NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu)	Methylmalonic acidemia [RCV001278427]	uncertain significance	16	89100815	89100815	Human	2	name
40905275	CV979828	single nucleotide variant	NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	Combined malonic and methylmalonic acidemia [RCV001559238]\|Inborn genetic diseases [RCV002541685]\|Methylmalonic acidemia [RCV001278429]	uncertain significance	16	89100826	89100826	Human	4	name
40905276	CV979829	single nucleotide variant	NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)	Combined malonic and methylmalonic acidemia [RCV002542896]\|Methylmalonic acidemia [RCV001278430]\|not provided [RCV003320819]	uncertain significance	16	89100860	89100860	Human	3	name
40905277	CV979830	single nucleotide variant	NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser)	Methylmalonic acidemia [RCV001278431]	uncertain significance	16	89100871	89100871	Human	2	name
40905278	CV979831	single nucleotide variant	NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)	Combined malonic and methylmalonic acidemia [RCV002537793]\|Inborn genetic diseases [RCV004035471]\|Methylmalonic acidemia [RCV001278432]	likely benign\|uncertain significance	16	89100875	89100875	Human	4	name
40905279	CV979832	single nucleotide variant	NM_001243279.3(ACSF3):c.278T>A (p.Leu93His)	Methylmalonic acidemia [RCV001278433]	uncertain significance	16	89100959	89100959	Human	2	name
40905280	CV979833	single nucleotide variant	NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)	Combined malonic and methylmalonic acidemia [RCV001880261]\|Methylmalonic acidemia [RCV001278434]	uncertain significance	16	89100961	89100961	Human	3	name
40905281	CV979834	single nucleotide variant	NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln)	Inborn genetic diseases [RCV004035472]\|Methylmalonic acidemia [RCV001278435]	uncertain significance	16	89100964	89100964	Human	3	name
40905941	CV979853	single nucleotide variant	NM_001243279.3(ACSF3):c.1056G>C (p.Leu352=)	Methylmalonic acidemia [RCV001279229]	uncertain significance	16	89114417	89114417	Human	2	name
40906949	CV979858	single nucleotide variant	NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=)	Combined malonic and methylmalonic acidemia [RCV002541749]\|Methylmalonic acidemia [RCV001280409]	likely benign\|uncertain significance	16	89133147	89133147	Human	3	name
40906951	CV979860	single nucleotide variant	NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)	Combined malonic and methylmalonic acidemia [RCV001511905]\|Methylmalonic acidemia [RCV001280411]\|not provided [RCV001673042]\|not specified [RCV001529539]	benign	16	89133243	89133243	Human	3	name
40906960	CV979869	single nucleotide variant	NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)	Combined malonic and methylmalonic acidemia [RCV001425619]\|Methylmalonic acidemia [RCV001280420]	likely benign\|uncertain significance	16	89154097	89154097	Human	3	name
126730693	CV986081	deletion	NM_001243279.3(ACSF3):c.866del (p.Val289fs)	Combined malonic and methylmalonic acidemia [RCV003460312]	pathogenic\|likely pathogenic	16	89112135	89112135	Human	1	name
126730164	CV1012485	single nucleotide variant	NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)	Combined malonic and methylmalonic acidemia [RCV001312818]	uncertain significance	16	89102725	89102725	Human	1	name
126913499	CV1038489	single nucleotide variant	NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)	Combined malonic and methylmalonic acidemia [RCV002486487]\|Inborn genetic diseases [RCV002548519]\|not provided [RCV001357421]	uncertain significance	16	89101073	89101073	Human	2	name
126918262	CV1049964	single nucleotide variant	NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)	Combined malonic and methylmalonic acidemia [RCV001372554]	uncertain significance	16	89102719	89102719	Human	1	name
127245112	CV1063785	single nucleotide variant	NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	Combined malonic and methylmalonic acidemia [RCV001384302]	pathogenic\|likely pathogenic	16	89101257	89101257	Human	1	name
127240340	CV1063788	single nucleotide variant	NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)	Combined malonic and methylmalonic acidemia [RCV001383440]	pathogenic	16	89102757	89102757	Human	1	name
127259147	CV1063790	single nucleotide variant	NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	Combined malonic and methylmalonic acidemia [RCV001380093]	pathogenic\|likely pathogenic	16	89112160	89112160	Human	1	name
127273027	CV1063791	deletion	NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	Combined malonic and methylmalonic acidemia [RCV001390658]	pathogenic\|likely pathogenic	16	89133162	89133162	Human	1	name
127268408	CV1063792	deletion	NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	Combined malonic and methylmalonic acidemia [RCV001382155]	pathogenic\|likely pathogenic	16	89133192	89133192	Human	1	name
127235828	CV1063794	deletion	NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	Combined malonic and methylmalonic acidemia [RCV001382481]	pathogenic\|likely pathogenic	16	89133224	89133224	Human	1	name
150414482	CV1178076	single nucleotide variant	NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)	Combined malonic and methylmalonic acidemia [RCV001803356]\|not provided [RCV001548149]	uncertain significance	16	89101306	89101306	Human	1	name
150412506	CV1185963	single nucleotide variant	NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	Combined malonic and methylmalonic acidemia [RCV001559236]\|Inborn genetic diseases [RCV002568387]	likely benign\|uncertain significance	16	89101072	89101072	Human	2	name
150546792	CV1291667	single nucleotide variant	NM_001243279.3(ACSF3):c.395C>A (p.Ala132Asp)	not specified [RCV001733413]	uncertain significance	16	89101076	89101076	Human		name
150540713	CV1296109	single nucleotide variant	NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)	Combined malonic and methylmalonic acidemia [RCV002503207]\|not provided [RCV001760578]	uncertain significance	16	89101309	89101309	Human	1	name
150548086	CV1314126	single nucleotide variant	NM_001243279.3(ACSF3):c.397C>T (p.Gln133Ter)	Combined malonic and methylmalonic acidemia [RCV001785879]	likely pathogenic	16	89101078	89101078	Human		name
151794284	CV1353996	single nucleotide variant	NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)	Combined malonic and methylmalonic acidemia [RCV001990361]	uncertain significance	16	89101052	89101052	Human	1	name
151771173	CV1366330	deletion	NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)	Combined malonic and methylmalonic acidemia [RCV001929531]	pathogenic\|likely pathogenic	16	89114362	89114362	Human	1	name
151884074	CV1366602	single nucleotide variant	NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)	Combined malonic and methylmalonic acidemia [RCV001941649]	pathogenic\|likely pathogenic	16	89101264	89101264	Human	1	name
151710519	CV1372449	single nucleotide variant	NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)	Combined malonic and methylmalonic acidemia [RCV001964200]	uncertain significance	16	89101046	89101046	Human	1	name
151800873	CV1378696	deletion	NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)	Combined malonic and methylmalonic acidemia [RCV001877362]	pathogenic\|likely pathogenic	16	89114471	89114471	Human	1	name
151769187	CV1388076	single nucleotide variant	NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)	Combined malonic and methylmalonic acidemia [RCV001971011]\|Inborn genetic diseases [RCV004603122]	uncertain significance	16	89101080	89101080	Human	2	name
151787071	CV1393488	deletion	NM_001243279.3(ACSF3):c.1104del (p.Thr369fs)	Combined malonic and methylmalonic acidemia [RCV001972657]	pathogenic	16	89114465	89114465	Human	1	name
151754661	CV1429666	single nucleotide variant	NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)	Combined malonic and methylmalonic acidemia [RCV002007207]	pathogenic\|likely pathogenic	16	89102754	89102754	Human	1	name
151805200	CV1440487	single nucleotide variant	NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)	Combined malonic and methylmalonic acidemia [RCV001932674]	pathogenic\|likely pathogenic	16	89101089	89101089	Human	1	name
151864846	CV1477355	deletion	NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)	Combined malonic and methylmalonic acidemia [RCV001939030]	pathogenic\|likely pathogenic	16	89146043	89146043	Human	1	name
152156942	CV1668840	single nucleotide variant	NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)	Combined malonic and methylmalonic acidemia [RCV003464406]\|not specified [RCV002223066]	likely pathogenic\|uncertain significance	16	89100992	89100992	Human	1	name
153305334	CV1688447	single nucleotide variant	NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)	Combined malonic and methylmalonic acidemia [RCV002266181]	likely pathogenic	16	89101084	89101084	Human	1	name
156264836	CV1869466	single nucleotide variant	NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)	Combined malonic and methylmalonic acidemia [RCV003060495]\|Inborn genetic diseases [RCV004070262]	uncertain significance	16	89102736	89102736	Human	2	name
156257014	CV1875392	single nucleotide variant	NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)	Combined malonic and methylmalonic acidemia [RCV003060226]	uncertain significance	16	89101009	89101009	Human	1	name
155977944	CV1886197	single nucleotide variant	NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)	Combined malonic and methylmalonic acidemia [RCV003075508]\|not provided [RCV005233079]	uncertain significance	16	89112221	89112221	Human	1	name
156404144	CV1886570	single nucleotide variant	NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)	Combined malonic and methylmalonic acidemia [RCV003069638]	uncertain significance	16	89101095	89101095	Human	1	name
155982888	CV1887116	single nucleotide variant	NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)	Combined malonic and methylmalonic acidemia [RCV003075747]\|Inborn genetic diseases [RCV004071920]	uncertain significance	16	89112120	89112120	Human	2	name
156125730	CV1889015	single nucleotide variant	NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)	Combined malonic and methylmalonic acidemia [RCV003081626]	uncertain significance	16	89102692	89102692	Human	1	name
156411237	CV1893029	single nucleotide variant	NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)	Combined malonic and methylmalonic acidemia [RCV003072394]	uncertain significance	16	89102694	89102694	Human	1	name
156290787	CV1897509	single nucleotide variant	NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)	Combined malonic and methylmalonic acidemia [RCV002598745]	uncertain significance	16	89102646	89102646	Human	1	name
156402143	CV1908079	single nucleotide variant	NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)	Combined malonic and methylmalonic acidemia [RCV002584998]	uncertain significance	16	89112221	89112221	Human	1	name
156369442	CV1920005	single nucleotide variant	NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)	Combined malonic and methylmalonic acidemia [RCV002603059]	uncertain significance	16	89102683	89102683	Human	1	name
156055017	CV1924092	single nucleotide variant	NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)	Combined malonic and methylmalonic acidemia [RCV002638076]	uncertain significance	16	89101304	89101304	Human	1	name
156066645	CV1952333	single nucleotide variant	NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)	Combined malonic and methylmalonic acidemia [RCV002569478]	uncertain significance	16	89102608	89102608	Human	1	name
156409583	CV1961854	deletion	NM_001243279.3(ACSF3):c.1720del (p.His574fs)	Combined malonic and methylmalonic acidemia [RCV002586865]	uncertain significance	16	89154195	89154195	Human	1	name
156157369	CV1967702	single nucleotide variant	NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)	Combined malonic and methylmalonic acidemia [RCV002594345]	uncertain significance	16	89101109	89101109	Human	1	name
10058730	CV200306	single nucleotide variant	NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	Combined malonic and methylmalonic acidemia [RCV001380117]	pathogenic\|likely pathogenic	16	89101029	89101029	Human	1	name
10056145	CV200307	single nucleotide variant	NM_001243279.3(ACSF3):c.584A>G (p.Lys195Arg)	not specified [RCV000185747]	likely benign	16	89101265	89101265	Human		name
10058732	CV200308	single nucleotide variant	NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)	Combined malonic and methylmalonic acidemia [RCV002516960]\|not provided [RCV000185756]	pathogenic\|uncertain significance	16	89101270	89101270	Human	1	name
10056149	CV200309	single nucleotide variant	NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg)	Combined malonic and methylmalonic acidemia [RCV001833107]\|not provided [RCV000185757]	uncertain significance	16	89102610	89102610	Human	1	name
10058733	CV200310	single nucleotide variant	NM_001243279.3(ACSF3):c.706G>A (p.Asp236Asn)	not provided [RCV000185758]	likely pathogenic	16	89102643	89102643	Human		name
10058734	CV200313	deletion	NM_001243279.3(ACSF3):c.1718del (p.Phe573fs)	Combined malonic and methylmalonic acidemia [RCV001827991]\|not provided [RCV000185759]	pathogenic\|likely pathogenic	16	89154193	89154193	Human	1	name
156405846	CV2004488	single nucleotide variant	NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)	Combined malonic and methylmalonic acidemia [RCV002658411]	pathogenic\|likely pathogenic	16	89112209	89112209	Human	1	name
155949782	CV2013905	single nucleotide variant	NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)	Combined malonic and methylmalonic acidemia [RCV002685954]	uncertain significance	16	89101319	89101319	Human	1	name
156030141	CV2022620	single nucleotide variant	NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)	Combined malonic and methylmalonic acidemia [RCV002735774]	uncertain significance	16	89102695	89102695	Human	1	name
156024910	CV2025640	single nucleotide variant	NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)	Combined malonic and methylmalonic acidemia [RCV002735549]	uncertain significance	16	89112131	89112131	Human	1	name
156121040	CV2052313	duplication	NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs)	Combined malonic and methylmalonic acidemia [RCV002825299]	pathogenic	16	89120807	89120808	Human	1	name
155938109	CV2071647	deletion	NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)	Combined malonic and methylmalonic acidemia [RCV002839225]	pathogenic\|likely pathogenic	16	89145388	89145388	Human	1	name
155911792	CV2084984	deletion	NM_001243279.3(ACSF3):c.1183del (p.Gln395fs)	Combined malonic and methylmalonic acidemia [RCV002858549]	pathogenic	16	89120857	89120857	Human	1	name
156024504	CV2106013	single nucleotide variant	NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)	Combined malonic and methylmalonic acidemia [RCV002923227]	uncertain significance	16	89102680	89102680	Human	1	name
156001833	CV2106808	single nucleotide variant	NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)	Combined malonic and methylmalonic acidemia [RCV002947826]	uncertain significance	16	89112114	89112114	Human	1	name
156239112	CV2115799	single nucleotide variant	NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)	Combined malonic and methylmalonic acidemia [RCV002919231]	uncertain significance	16	89112125	89112125	Human	1	name
156098567	CV2117004	single nucleotide variant	NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)	Combined malonic and methylmalonic acidemia [RCV002952650]	uncertain significance	16	89101154	89101154	Human	1	name
155934393	CV2129402	single nucleotide variant	NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)	Combined malonic and methylmalonic acidemia [RCV002970829]	uncertain significance	16	89102692	89102692	Human	1	name
156093394	CV2143147	single nucleotide variant	NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)	Combined malonic and methylmalonic acidemia [RCV002979696]	uncertain significance	16	89112184	89112184	Human	1	name
156362548	CV2158998	single nucleotide variant	NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)	Combined malonic and methylmalonic acidemia [RCV003031668]	uncertain significance	16	89101219	89101219	Human	1	name
156318053	CV2161608	single nucleotide variant	NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)	Combined malonic and methylmalonic acidemia [RCV003046424]	uncertain significance	16	89112149	89112149	Human	1	name
156004725	CV2166694	single nucleotide variant	NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)	Combined malonic and methylmalonic acidemia [RCV003017438]	pathogenic	16	89101129	89101129	Human	1	name
156369895	CV2174357	single nucleotide variant	NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)	Combined malonic and methylmalonic acidemia [RCV003049618]	pathogenic	16	89112197	89112197	Human	1	name
156376024	CV2210420	single nucleotide variant	NM_001243279.3(ACSF3):c.739G>A (p.Val247Ile)	Inborn genetic diseases [RCV002677732]	uncertain significance	16	89102676	89102676	Human	1	name
329387049	CV2436233	single nucleotide variant	NM_001243279.3(ACSF3):c.758C>T (p.Ala253Val)	Inborn genetic diseases [RCV003189931]	uncertain significance	16	89102695	89102695	Human	1	name
329952037	CV2668777	duplication	NM_001243279.3(ACSF3):c.1577dup (p.His526fs)	Combined malonic and methylmalonic acidemia [RCV003230858]	likely pathogenic	16	89146012	89146013	Human	1	name
401773626	CV2705455	single nucleotide variant	NM_001243279.3(ACSF3):c.724C>T (p.Leu242Phe)	Inborn genetic diseases [RCV003262265]	uncertain significance	16	89102661	89102661	Human	1	name
401865666	CV2755588	single nucleotide variant	NM_001243279.3(ACSF3):c.802C>T (p.Pro268Ser)	Inborn genetic diseases [RCV003344693]	uncertain significance	16	89102739	89102739	Human	1	name
401857190	CV2755609	single nucleotide variant	NM_001243279.3(ACSF3):c.379A>G (p.Arg127Gly)	Inborn genetic diseases [RCV003341257]	uncertain significance	16	89101060	89101060	Human	1	name
401889743	CV2763359	single nucleotide variant	NM_001243279.3(ACSF3):c.929A>G (p.Gln310Arg)	Inborn genetic diseases [RCV003354048]	uncertain significance	16	89112198	89112198	Human	1	name
401858452	CV2774310	single nucleotide variant	NM_001243279.3(ACSF3):c.434T>G (p.Val145Gly)	Inborn genetic diseases [RCV003356824]	uncertain significance	16	89101115	89101115	Human	1	name
401870381	CV2792358	single nucleotide variant	NM_001243279.3(ACSF3):c.842G>A (p.Ser281Asn)	Inborn genetic diseases [RCV003381208]	uncertain significance	16	89112111	89112111	Human	1	name
401941087	CV2838800	single nucleotide variant	NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)	Combined malonic and methylmalonic acidemia [RCV003460333]	likely pathogenic	16	89101315	89101315	Human	1	name
401941123	CV2838836	duplication	NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)	Combined malonic and methylmalonic acidemia [RCV003460369]	likely pathogenic	16	89133225	89133226	Human	1	name
401949621	CV2838857	deletion	NM_001243279.3(ACSF3):c.1293del (p.Val432fs)	Combined malonic and methylmalonic acidemia [RCV003474482]	likely pathogenic	16	89133188	89133188	Human	1	name
401949635	CV2838875	deletion	NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)	Combined malonic and methylmalonic acidemia [RCV003474500]	likely pathogenic	16	89133140	89133140	Human	1	name
401949754	CV2838938	single nucleotide variant	NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)	Combined malonic and methylmalonic acidemia [RCV003475625]	likely pathogenic	16	89101165	89101165	Human	1	name
401949758	CV2838942	single nucleotide variant	NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)	Combined malonic and methylmalonic acidemia [RCV003475629]	pathogenic\|likely pathogenic	16	89112178	89112178	Human	1	name
401949778	CV2838962	single nucleotide variant	NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)	Combined malonic and methylmalonic acidemia [RCV003475649]	pathogenic\|likely pathogenic	16	89101256	89101256	Human	1	name
401941139	CV2838966	single nucleotide variant	NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)	Combined malonic and methylmalonic acidemia [RCV003460385]	likely pathogenic	16	89112098	89112098	Human	1	name
401948395	CV2838989	duplication	NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)	Combined malonic and methylmalonic acidemia [RCV003466688]	pathogenic\|likely pathogenic	16	89145979	89145980	Human	1	name
401948457	CV2838996	duplication	NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)	Combined malonic and methylmalonic acidemia [RCV003466695]	likely pathogenic	16	89145387	89145388	Human	1	name
402491208	CV2978507	deletion	NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)	Combined malonic and methylmalonic acidemia [RCV003643851]	pathogenic	16	89120861	89120861	Human	1	name
402496391	CV3023048	deletion	NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)	Combined malonic and methylmalonic acidemia [RCV003644417]	pathogenic	16	89146036	89146036	Human	1	name
405190558	CV3157009	single nucleotide variant	NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)	Combined malonic and methylmalonic acidemia [RCV003859697]	uncertain significance	16	89101016	89101016	Human	1	name
405255598	CV3172579	single nucleotide variant	NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)	Combined malonic and methylmalonic acidemia [RCV003872517]	pathogenic	16	89112173	89112173	Human	1	name
405739919	CV3292451	single nucleotide variant	NM_001243279.3(ACSF3):c.583A>G (p.Lys195Glu)	Inborn genetic diseases [RCV004430540]	uncertain significance	16	89101264	89101264	Human	1	name
405739959	CV3292457	single nucleotide variant	NM_001243279.3(ACSF3):c.594G>A (p.Met198Ile)	Inborn genetic diseases [RCV004430546]	uncertain significance	16	89101275	89101275	Human	1	name
405740000	CV3292463	single nucleotide variant	NM_001243279.3(ACSF3):c.647A>C (p.His216Pro)	Inborn genetic diseases [RCV004430552]	uncertain significance	16	89101328	89101328	Human	1	name
405873195	CV3398448	single nucleotide variant	NM_001243279.3(ACSF3):c.556C>G (p.Pro186Ala)	not provided [RCV004575944]	uncertain significance	16	89101237	89101237	Human		name
405872469	CV3399971	single nucleotide variant	NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter)	Combined malonic and methylmalonic acidemia [RCV004575475]	likely pathogenic	16	89102633	89102633	Human	1	name
405872578	CV3399983	duplication	NM_001243279.3(ACSF3):c.1448dup (p.Val484fs)	Combined malonic and methylmalonic acidemia [RCV004575487]	likely pathogenic	16	89145346	89145347	Human	1	name
405872494	CV3399987	deletion	NM_001243279.3(ACSF3):c.1192del (p.Ala398fs)	Combined malonic and methylmalonic acidemia [RCV004575491]	likely pathogenic	16	89120866	89120866	Human	1	name
405872496	CV3399989	deletion	NM_001243279.3(ACSF3):c.1234del (p.Thr412fs)	Combined malonic and methylmalonic acidemia [RCV004575493]	likely pathogenic	16	89120908	89120908	Human	1	name
407496897	CV3428174	single nucleotide variant	NM_001243279.3(ACSF3):c.985G>A (p.Val329Ile)	Inborn genetic diseases [RCV004606220]	uncertain significance	16	89114346	89114346	Human	1	name
597637330	CV3636989	single nucleotide variant	NM_001243279.3(ACSF3):c.953G>T (p.Arg318Leu)	Inborn genetic diseases [RCV004970147]	uncertain significance	16	89112222	89112222	Human	1	name
597637370	CV3637030	single nucleotide variant	NM_001243279.3(ACSF3):c.829G>A (p.Glu277Lys)	Inborn genetic diseases [RCV004970158]	uncertain significance	16	89112098	89112098	Human	1	name
597637373	CV3637041	single nucleotide variant	NM_001243279.3(ACSF3):c.665T>C (p.Val222Ala)	Inborn genetic diseases [RCV004970159]	uncertain significance	16	89101346	89101346	Human	1	name
597637377	CV3637050	single nucleotide variant	NM_001243279.3(ACSF3):c.760C>A (p.Leu254Met)	Inborn genetic diseases [RCV004970160]	uncertain significance	16	89102697	89102697	Human	1	name
597714122	CV3715862	single nucleotide variant	NM_001243279.3(ACSF3):c.344C>A (p.Ser115Ter)	Combined malonic and methylmalonic acidemia [RCV005010050]	likely pathogenic	16	89101025	89101025	Human	1	name
597714131	CV3715863	single nucleotide variant	NM_001243279.3(ACSF3):c.628A>T (p.Lys210Ter)	Combined malonic and methylmalonic acidemia [RCV005010051]	likely pathogenic	16	89101309	89101309	Human	1	name
597714143	CV3715865	single nucleotide variant	NM_001243279.3(ACSF3):c.776G>A (p.Trp259Ter)	Combined malonic and methylmalonic acidemia [RCV005010052]	likely pathogenic	16	89102713	89102713	Human	1	name
597714166	CV3715868	deletion	NM_001243279.3(ACSF3):c.1113del (p.Val372fs)	Combined malonic and methylmalonic acidemia [RCV005010054]	likely pathogenic	16	89114473	89114473	Human	1	name
597714208	CV3715872	deletion	NM_001243279.3(ACSF3):c.1663del (p.Glu555fs)	Combined malonic and methylmalonic acidemia [RCV005010058]	likely pathogenic	16	89154138	89154138	Human	1	name
12838913	CV375620	single nucleotide variant	NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)	Combined malonic and methylmalonic acidemia [RCV001000007]\|not provided [RCV001528491]\|not specified [RCV000427844]	benign\|likely benign	16	89112123	89112123	Human	1	name
597960017	CV3815472	single nucleotide variant	NM_001243279.3(ACSF3):c.358G>T (p.Gly120Cys)	Combined malonic and methylmalonic acidemia [RCV005163406]	uncertain significance	16	89101039	89101039	Human	1	name
598163401	CV3942565	single nucleotide variant	NM_001243279.3(ACSF3):c.660G>C (p.Arg220Ser)	Inborn genetic diseases [RCV005307381]	uncertain significance	16	89101341	89101341	Human	1	name
8602440	CV40097	single nucleotide variant	NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)	Combined malonic and methylmalonic acidemia [RCV000024136]\|not specified [RCV003114202]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	89102665	89102665	Human	1	name
8602441	CV40098	single nucleotide variant	NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg)	Combined malonic and methylmalonic acidemia [RCV000024137]	pathogenic\|likely pathogenic	16	89101274	89101274	Human	1	name
616934025	CV4012001	single nucleotide variant	NM_001243279.3(ACSF3):c.634G>T (p.Val212Leu)	not specified [RCV005408552]	uncertain significance	16	89101315	89101315	Human		name
12900609	CV409781	single nucleotide variant	NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)	Combined malonic and methylmalonic acidemia [RCV002525945]\|Inborn genetic diseases [RCV004023200]\|Methylmalonic acidemia [RCV001274017]\|not provided [RCV000482760]\|not specified [RCV004782398]	uncertain significance	16	89102733	89102733	Human	4	name
12907497	CV415525	duplication	NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	Combined malonic and methylmalonic acidemia [RCV001835826]\|not provided [RCV000489924]	pathogenic\|likely pathogenic	16	89145276	89145277	Human	1	name
13462529	CV439337	single nucleotide variant	NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)	Combined malonic and methylmalonic acidemia [RCV002524998]\|Methylmalonic acidemia [RCV001274016]\|not provided [RCV000514315]	likely benign\|uncertain significance	16	89101226	89101226	Human	3	name
13504425	CV445661	single nucleotide variant	NM_001243279.3(ACSF3):c.336G>T (p.Gln112His)	not provided [RCV000519259]	uncertain significance	16	89101017	89101017	Human		name
13822184	CV568456	single nucleotide variant	NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)	Combined malonic and methylmalonic acidemia [RCV000696936]\|not provided [RCV004692145]	uncertain significance	16	89101039	89101039	Human	1	name
13820138	CV574204	single nucleotide variant	NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)	Combined malonic and methylmalonic acidemia [RCV000694756]	uncertain significance	16	89101222	89101222	Human	1	name
14701314	CV645125	single nucleotide variant	NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)	Combined malonic and methylmalonic acidemia [RCV000815680]\|Inborn genetic diseases [RCV003243328]\|Methylmalonic acidemia [RCV001278437]	uncertain significance	16	89100994	89100994	Human	4	name
14717249	CV645126	single nucleotide variant	NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)	Combined malonic and methylmalonic acidemia [RCV000807181]	uncertain significance	16	89101112	89101112	Human	1	name
14714373	CV645127	single nucleotide variant	NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	Combined malonic and methylmalonic acidemia [RCV000796173]	pathogenic\|likely pathogenic	16	89101132	89101132	Human	1	name
14715573	CV645128	single nucleotide variant	NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)	Combined malonic and methylmalonic acidemia [RCV000800704]\|Inborn genetic diseases [RCV004028035]	uncertain significance	16	89101187	89101187	Human	2	name
14713625	CV645130	single nucleotide variant	NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)	Combined malonic and methylmalonic acidemia [RCV000793580]\|Inborn genetic diseases [RCV005306149]	uncertain significance	16	89102619	89102619	Human	2	name
14714258	CV645131	single nucleotide variant	NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	Combined malonic and methylmalonic acidemia [RCV000795961]	pathogenic\|likely pathogenic	16	89102626	89102626	Human	1	name
14715640	CV645132	single nucleotide variant	NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)	Combined malonic and methylmalonic acidemia [RCV000801009]	pathogenic\|likely pathogenic	16	89112097	89112097	Human	1	name
14731597	CV656396	single nucleotide variant	NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met)	Combined malonic and methylmalonic acidemia [RCV001086430]\|not provided [RCV000836203]	benign\|likely benign	16	89101281	89101281	Human	1	name
26915991	CV844484	single nucleotide variant	NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)	Combined malonic and methylmalonic acidemia [RCV001041671]\|Methylmalonic acidemia [RCV001274015]	pathogenic\|likely pathogenic	16	89101105	89101105	Human	3	name
26916726	CV844489	duplication	NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)	Combined malonic and methylmalonic acidemia [RCV001042177]	pathogenic	16	89146035	89146036	Human	1	name
38459563	CV919683	single nucleotide variant	NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)	Combined malonic and methylmalonic acidemia [RCV001195941]	uncertain significance	16	89101172	89101172	Human	1	name
38477056	CV937659	single nucleotide variant	NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	Combined malonic and methylmalonic acidemia [RCV001204919]	pathogenic\|likely pathogenic	16	89102627	89102627	Human	1	name
38471612	CV937660	single nucleotide variant	NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	Combined malonic and methylmalonic acidemia [RCV001213816]	pathogenic\|likely pathogenic	16	89102718	89102718	Human	1	name
38461916	CV949627	single nucleotide variant	NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	Combined malonic and methylmalonic acidemia [RCV001229626]	pathogenic\|likely pathogenic	16	89101089	89101089	Human	1	name
38474844	CV949628	single nucleotide variant	NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	Combined malonic and methylmalonic acidemia [RCV001232362]	pathogenic\|likely pathogenic	16	89112096	89112096	Human	1	name
38499199	CV957916	single nucleotide variant	NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)	Combined malonic and methylmalonic acidemia [RCV001244315]	uncertain significance	16	89102628	89102628	Human	1	name
38494465	CV957917	single nucleotide variant	NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)	Combined malonic and methylmalonic acidemia [RCV001241328]\|not specified [RCV002222684]	uncertain significance	16	89112097	89112097	Human	1	name
38597352	CV965208	duplication	NM_001243279.3(ACSF3):c.1721dup (p.His574fs)	Combined malonic and methylmalonic acidemia [RCV001254594]\|not provided [RCV001559843]\|not specified [RCV002307714]	pathogenic\|likely pathogenic\|uncertain significance	16	89154196	89154197	Human	1	name
40905282	CV979835	single nucleotide variant	NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)	Combined malonic and methylmalonic acidemia [RCV002493478]\|Methylmalonic acidemia [RCV001278438]	uncertain significance	16	89101037	89101037	Human	3	name
40905924	CV979836	single nucleotide variant	NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile)	Methylmalonic acidemia [RCV001279211]	uncertain significance	16	89101117	89101117	Human	2	name
40905925	CV979837	single nucleotide variant	NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)	Combined malonic and methylmalonic acidemia [RCV002537836]\|Methylmalonic acidemia [RCV001279212]	uncertain significance	16	89101178	89101178	Human	3	name
40905927	CV979839	single nucleotide variant	NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met)	Methylmalonic acidemia [RCV001279214]	uncertain significance	16	89101203	89101203	Human	2	name
40905928	CV979840	single nucleotide variant	NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)	Combined malonic and methylmalonic acidemia [RCV001342314]\|Inborn genetic diseases [RCV004035483]\|Methylmalonic acidemia [RCV001279215]	uncertain significance	16	89101208	89101208	Human	4	name
40905929	CV979841	single nucleotide variant	NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)	Combined malonic and methylmalonic acidemia [RCV002542920]\|Methylmalonic acidemia [RCV001279216]	uncertain significance	16	89101238	89101238	Human	3	name
40905932	CV979844	single nucleotide variant	NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile)	Methylmalonic acidemia [RCV001279219]	uncertain significance	16	89102638	89102638	Human	2	name
40905933	CV979845	single nucleotide variant	NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)	Combined malonic and methylmalonic acidemia [RCV002486055]\|Inborn genetic diseases [RCV003294176]\|Methylmalonic acidemia [RCV001279220]\|not provided [RCV001760320]	uncertain significance	16	89102658	89102658	Human	4	name
40905935	CV979847	single nucleotide variant	NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln)	Methylmalonic acidemia [RCV001279223]	uncertain significance	16	89112126	89112126	Human	2	name
40905936	CV979848	single nucleotide variant	NM_001243279.3(ACSF3):c.877G>A (p.Val293Met)	Methylmalonic acidemia [RCV001279224]	uncertain significance	16	89112146	89112146	Human	2	name
40905937	CV979849	single nucleotide variant	NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)	Combined malonic and methylmalonic acidemia [RCV002541703]\|Methylmalonic acidemia [RCV001279225]	uncertain significance	16	89112212	89112212	Human	3	name
40905938	CV979850	single nucleotide variant	NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)	Combined malonic and methylmalonic acidemia [RCV002486056]\|Methylmalonic acidemia [RCV001279226]	uncertain significance	16	89112222	89112222	Human	3	name
126773564	CV1012486	single nucleotide variant	NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)	Combined malonic and methylmalonic acidemia [RCV001324405]	uncertain significance	16	89114448	89114448	Human	1	name
126744868	CV1018181	single nucleotide variant	NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)	Combined malonic and methylmalonic acidemia [RCV001330531]	pathogenic\|likely pathogenic	16	89145301	89145301	Human	1	name
126744872	CV1018182	single nucleotide variant	NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)	Combined malonic and methylmalonic acidemia [RCV001330532]	uncertain significance	16	89145344	89145344	Human	1	name
126744880	CV1018183	single nucleotide variant	NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	Combined malonic and methylmalonic acidemia [RCV001330534]	pathogenic\|likely pathogenic	16	89145972	89145972	Human	1	name
127252960	CV1056360	single nucleotide variant	NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)	Combined malonic and methylmalonic acidemia [RCV001378855]	likely pathogenic	16	89114436	89114436	Human	1	name
127260150	CV1063793	single nucleotide variant	NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)	Combined malonic and methylmalonic acidemia [RCV001380278]	pathogenic	16	89133207	89133207	Human	1	name
127265229	CV1063795	duplication	NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	Combined malonic and methylmalonic acidemia [RCV001381409]	pathogenic\|likely pathogenic	16	89133224	89133225	Human	1	name
150411907	CV1178077	single nucleotide variant	NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)	Combined malonic and methylmalonic acidemia [RCV001826392]\|not provided [RCV001547341]	pathogenic\|likely pathogenic	16	89146016	89146016	Human	1	name
150412502	CV1185964	single nucleotide variant	NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)	Combined malonic and methylmalonic acidemia [RCV001559234]	uncertain significance	16	89120819	89120819	Human	1	name
150548957	CV1293994	single nucleotide variant	NM_001243279.3(ACSF3):c.1305A>T (p.Glu435Asp)	not provided [RCV001764834]	uncertain significance	16	89133201	89133201	Human		name
150540761	CV1298485	single nucleotide variant	NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)	Combined malonic and methylmalonic acidemia [RCV002503208]\|not provided [RCV001760633]	uncertain significance	16	89114445	89114445	Human	1	name
150548087	CV1314127	single nucleotide variant	NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)	Combined malonic and methylmalonic acidemia [RCV001785880]\|not specified [RCV002282576]	likely pathogenic\|uncertain significance	16	89154149	89154149	Human	1	name
151729952	CV1335455	single nucleotide variant	NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)	Combined malonic and methylmalonic acidemia [RCV002543337]\|not specified [RCV001844773]	uncertain significance	16	89154146	89154146	Human	1	name
151893296	CV1338051	single nucleotide variant	NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)	Combined malonic and methylmalonic acidemia [RCV001944892]	uncertain significance	16	89154094	89154094	Human	1	name
151841441	CV1350793	single nucleotide variant	NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)	Combined malonic and methylmalonic acidemia [RCV001902891]	pathogenic	16	89154119	89154119	Human	1	name
151855569	CV1376140	single nucleotide variant	NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)	Combined malonic and methylmalonic acidemia [RCV002033725]	uncertain significance	16	89145971	89145971	Human	1	name
151841933	CV1438292	single nucleotide variant	NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)	Combined malonic and methylmalonic acidemia [RCV001921637]	uncertain significance	16	89114365	89114365	Human	1	name
151875187	CV1461203	single nucleotide variant	NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)	Combined malonic and methylmalonic acidemia [RCV001925724]\|Inborn genetic diseases [RCV004970500]	uncertain significance	16	89133239	89133239	Human	2	name
151888805	CV1468482	single nucleotide variant	NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)	Combined malonic and methylmalonic acidemia [RCV002001159]	uncertain significance	16	89145395	89145395	Human	1	name
151855140	CV1478617	single nucleotide variant	NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)	Combined malonic and methylmalonic acidemia [RCV002017081]	uncertain significance	16	89154187	89154187	Human	1	name
151760440	CV1500043	single nucleotide variant	NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)	Combined malonic and methylmalonic acidemia [RCV001895246]	uncertain significance	16	89146043	89146043	Human	1	name
151729330	CV1515827	single nucleotide variant	NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)	Combined malonic and methylmalonic acidemia [RCV001984028]	uncertain significance	16	89114478	89114478	Human	1	name
153305335	CV1688448	single nucleotide variant	NM_001243279.3(ACSF3):c.1061G>A (p.Arg354Gln)	not specified [RCV002266182]	uncertain significance	16	89114422	89114422	Human		name
155730877	CV1780909	single nucleotide variant	NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)	Combined malonic and methylmalonic acidemia [RCV002308699]	likely pathogenic	16	89133199	89133199	Human	1	name
155947128	CV1872312	single nucleotide variant	NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)	Combined malonic and methylmalonic acidemia [RCV003073920]	uncertain significance	16	89114478	89114478	Human	1	name
156071406	CV1924732	single nucleotide variant	NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)	Combined malonic and methylmalonic acidemia [RCV002638611]\|Inborn genetic diseases [RCV003162088]	uncertain significance	16	89120836	89120836	Human	2	name
156365596	CV1928739	single nucleotide variant	NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)	Combined malonic and methylmalonic acidemia [RCV002632985]\|Inborn genetic diseases [RCV004070608]	uncertain significance	16	89145952	89145952	Human	2	name
156375705	CV1930450	single nucleotide variant	NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)	Combined malonic and methylmalonic acidemia [RCV002633814]	uncertain significance	16	89154191	89154191	Human	1	name
156002606	CV1987926	single nucleotide variant	NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)	Combined malonic and methylmalonic acidemia [RCV002618522]	uncertain significance	16	89145991	89145991	Human	1	name
10056146	CV200311	single nucleotide variant	NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	ACSF3-related disorder [RCV003977489]\|Combined malonic and methylmalonic acidemia [RCV000660548]\|Inborn genetic diseases [RCV004020249]\|not provided [RCV000658756]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	89145306	89145306	Human	2	name , trait , alternate_id
10056147	CV200312	single nucleotide variant	NM_001243279.3(ACSF3):c.1556T>G (p.Val519Gly)	not provided [RCV000185750]	uncertain significance	16	89145992	89145992	Human		name
156124766	CV2036268	single nucleotide variant	NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)	Combined malonic and methylmalonic acidemia [RCV002800372]	pathogenic\|likely pathogenic	16	89120846	89120846	Human	1	name
155937516	CV2045086	single nucleotide variant	NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)	Combined malonic and methylmalonic acidemia [RCV002774978]	pathogenic	16	89114390	89114390	Human	1	name
156000868	CV2045552	single nucleotide variant	NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)	Combined malonic and methylmalonic acidemia [RCV002756198]	uncertain significance	16	89145302	89145302	Human	1	name
156273198	CV2046229	single nucleotide variant	NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)	Combined malonic and methylmalonic acidemia [RCV002770118]	uncertain significance	16	89133176	89133176	Human	1	name
156246698	CV2053357	single nucleotide variant	NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)	Combined malonic and methylmalonic acidemia [RCV002791548]	pathogenic	16	89154108	89154108	Human	1	name
156235487	CV2081754	single nucleotide variant	NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)	Combined malonic and methylmalonic acidemia [RCV002876401]	pathogenic	16	89120893	89120893	Human	1	name
156355422	CV2129863	single nucleotide variant	NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)	Combined malonic and methylmalonic acidemia [RCV002966620]	pathogenic\|likely pathogenic	16	89154121	89154121	Human	1	name
156283126	CV2175816	single nucleotide variant	NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)	Combined malonic and methylmalonic acidemia [RCV003027386]	pathogenic	16	89120857	89120857	Human	1	name
156279410	CV2188578	single nucleotide variant	NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)	Combined malonic and methylmalonic acidemia [RCV003044729]	uncertain significance	16	89145394	89145394	Human	1	name
155965481	CV2206474	single nucleotide variant	NM_001243279.3(ACSF3):c.1006C>A (p.Pro336Thr)	Inborn genetic diseases [RCV002687021]	uncertain significance	16	89114367	89114367	Human	1	name
156381077	CV2218544	single nucleotide variant	NM_001243279.3(ACSF3):c.1301G>A (p.Arg434Gln)	Inborn genetic diseases [RCV002722522]	uncertain significance	16	89133197	89133197	Human	1	name
156119796	CV2219296	single nucleotide variant	NM_001243279.3(ACSF3):c.1499C>G (p.Thr500Arg)	Inborn genetic diseases [RCV002707760]	uncertain significance	16	89145399	89145399	Human	1	name
156331892	CV2220595	single nucleotide variant	NM_001243279.3(ACSF3):c.1495A>G (p.Ile499Val)	Inborn genetic diseases [RCV002718090]	uncertain significance	16	89145395	89145395	Human	1	name
156074465	CV2248175	single nucleotide variant	NM_001243279.3(ACSF3):c.1474C>T (p.His492Tyr)	Inborn genetic diseases [RCV002783361]	uncertain significance	16	89145374	89145374	Human	1	name
155946307	CV2266048	single nucleotide variant	NM_001243279.3(ACSF3):c.1721A>C (p.His574Pro)	Inborn genetic diseases [RCV002839864]	uncertain significance	16	89154197	89154197	Human	1	name
155985016	CV2274795	single nucleotide variant	NM_001243279.3(ACSF3):c.1123C>A (p.Pro375Thr)	Inborn genetic diseases [RCV002864001]	uncertain significance	16	89114484	89114484	Human	1	name
156037319	CV2374062	single nucleotide variant	NM_001243279.3(ACSF3):c.1568G>A (p.Arg523Gln)	Inborn genetic diseases [RCV002704098]	likely benign	16	89146004	89146004	Human	1	name
156448610	CV2402017	single nucleotide variant	NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)	Combined malonic and methylmalonic acidemia [RCV003120176]	uncertain significance	16	89114413	89114413	Human	1	name
329398009	CV2464688	single nucleotide variant	NM_001243279.3(ACSF3):c.1100C>G (p.Pro367Arg)	Inborn genetic diseases [RCV003220278]	uncertain significance	16	89114461	89114461	Human	1	name
401732827	CV2685345	single nucleotide variant	NM_001243279.3(ACSF3):c.1064A>G (p.Tyr355Cys)	Inborn genetic diseases [RCV003249014]	uncertain significance	16	89114425	89114425	Human	1	name
401730014	CV2700365	single nucleotide variant	NM_001243279.3(ACSF3):c.1625C>T (p.Ala542Val)	Inborn genetic diseases [RCV003271164]	uncertain significance	16	89154101	89154101	Human	1	name
401757823	CV2707984	single nucleotide variant	NM_001243279.3(ACSF3):c.1292C>T (p.Ser431Phe)	Inborn genetic diseases [RCV003256179]	uncertain significance	16	89133188	89133188	Human	1	name
401718435	CV2708286	single nucleotide variant	NM_001243279.3(ACSF3):c.1067G>T (p.Gly356Val)	Inborn genetic diseases [RCV003266502]	uncertain significance	16	89114428	89114428	Human	1	name
401781178	CV2726447	single nucleotide variant	NM_001243279.3(ACSF3):c.1321G>C (p.Glu441Gln)	Inborn genetic diseases [RCV003308495]	uncertain significance	16	89133217	89133217	Human	1	name
401797268	CV2742100	single nucleotide variant	NM_001243279.3(ACSF3):c.1073C>A (p.Thr358Asn)	not specified [RCV003324278]	uncertain significance	16	89114434	89114434	Human		name
401949660	CV2838903	single nucleotide variant	NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)	Combined malonic and methylmalonic acidemia [RCV003474528]	likely pathogenic	16	89133220	89133220	Human	1	name
401949770	CV2838954	single nucleotide variant	NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)	Combined malonic and methylmalonic acidemia [RCV003475641]	likely pathogenic	16	89120877	89120877	Human	1	name
404977913	CV2851862	single nucleotide variant	NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)	Combined malonic and methylmalonic acidemia [RCV003486353]	uncertain significance	16	89145276	89145276	Human	1	name
402494503	CV3015336	single nucleotide variant	NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)	Combined malonic and methylmalonic acidemia [RCV003644208]	pathogenic	16	89145300	89145300	Human	1	name
402488005	CV3081583	single nucleotide variant	NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)	Combined malonic and methylmalonic acidemia [RCV003643519]	uncertain significance	16	89114377	89114377	Human	1	name
405739146	CV3292364	single nucleotide variant	NM_001243279.3(ACSF3):c.1355G>T (p.Trp452Leu)	Inborn genetic diseases [RCV004430453]	uncertain significance	16	89133251	89133251	Human	1	name
405872575	CV3399948	single nucleotide variant	NM_001243279.3(ACSF3):c.1632C>G (p.Tyr544Ter)	Combined malonic and methylmalonic acidemia [RCV004575451]	likely pathogenic	16	89154108	89154108	Human	1	name
407496824	CV3428151	single nucleotide variant	NM_001243279.3(ACSF3):c.1294G>A (p.Val432Met)	Inborn genetic diseases [RCV004606200]	uncertain significance	16	89133190	89133190	Human	1	name
407496870	CV3428165	single nucleotide variant	NM_001243279.3(ACSF3):c.1015G>A (p.Val339Met)	Inborn genetic diseases [RCV004606212]	uncertain significance	16	89114376	89114376	Human	1	name
407496913	CV3428179	single nucleotide variant	NM_001243279.3(ACSF3):c.1658T>C (p.Val553Ala)	Inborn genetic diseases [RCV004606225]	uncertain significance	16	89154134	89154134	Human	1	name
407496932	CV3428187	single nucleotide variant	NM_001243279.3(ACSF3):c.1426A>G (p.Ile476Val)	Inborn genetic diseases [RCV004606232]	uncertain significance	16	89145326	89145326	Human	1	name
596920916	CV3534385	single nucleotide variant	NM_001243279.3(ACSF3):c.1447A>G (p.Lys483Glu)	not specified [RCV004783604]	uncertain significance	16	89145347	89145347	Human		name
12743060	CV361409	duplication	NM_174917.4(ACSF3):c.1377dupG (p.Val460Glyfs)	not provided [RCV000415951]	likely pathogenic	16	89145277	89145277	Human		name
597637325	CV3636968	single nucleotide variant	NM_001243279.3(ACSF3):c.1483G>A (p.Ala495Thr)	Inborn genetic diseases [RCV004970146]	uncertain significance	16	89145383	89145383	Human	1	name
597637347	CV3637009	single nucleotide variant	NM_001243279.3(ACSF3):c.1634C>T (p.Ala545Val)	Inborn genetic diseases [RCV004970152]	uncertain significance	16	89154110	89154110	Human	1	name
597637366	CV3637019	single nucleotide variant	NM_001243279.3(ACSF3):c.1484C>A (p.Ala495Asp)	Inborn genetic diseases [RCV004970157]	uncertain significance	16	89145384	89145384	Human	1	name
12850235	CV364195	single nucleotide variant	NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr)	Combined malonic and methylmalonic acidemia [RCV001828398]\|not provided [RCV000443555]	uncertain significance	16	89133188	89133188	Human	1	name
597759140	CV3715869	duplication	NM_001243279.3(ACSF3):c.1202dup (p.Tyr401Ter)	Combined malonic and methylmalonic acidemia [RCV005017890]	likely pathogenic	16	89120875	89120876	Human	1	name
12847975	CV375624	single nucleotide variant	NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	Combined malonic and methylmalonic acidemia [RCV001245382]\|not provided [RCV000444454]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	89145370	89145370	Human	1	name
12849239	CV377918	single nucleotide variant	NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	Combined malonic and methylmalonic acidemia [RCV001062791]\|not provided [RCV000426583]	pathogenic\|likely pathogenic	16	89146044	89146044	Human	1	name
597939514	CV3836466	single nucleotide variant	NM_001243279.3(ACSF3):c.1523C>T (p.Pro508Leu)	Combined malonic and methylmalonic acidemia [RCV005187487]	uncertain significance	16	89145959	89145959	Human	1	name
597907004	CV3842932	single nucleotide variant	NM_001243279.3(ACSF3):c.1469A>T (p.Glu490Val)	Combined malonic and methylmalonic acidemia [RCV005182240]	likely pathogenic	16	89145369	89145369	Human	1	name
597906212	CV3846679	single nucleotide variant	NM_001243279.3(ACSF3):c.1724C>A (p.Pro575His)	Combined malonic and methylmalonic acidemia [RCV005182106]	uncertain significance	16	89154200	89154200	Human	1	name
598210410	CV3942546	single nucleotide variant	NM_001243279.3(ACSF3):c.1465G>A (p.Val489Met)	Inborn genetic diseases [RCV005315864]	uncertain significance	16	89145365	89145365	Human	1	name
598163258	CV3942548	single nucleotide variant	NM_001243279.3(ACSF3):c.1108A>G (p.Thr370Ala)	Inborn genetic diseases [RCV005307365]	likely benign	16	89114469	89114469	Human	1	name
598163351	CV3942560	single nucleotide variant	NM_001243279.3(ACSF3):c.1577A>G (p.His526Arg)	Inborn genetic diseases [RCV005307375]	uncertain significance	16	89146013	89146013	Human	1	name
598163433	CV3942570	single nucleotide variant	NM_001243279.3(ACSF3):c.1489C>T (p.Pro497Ser)	Inborn genetic diseases [RCV005307385]	uncertain significance	16	89145389	89145389	Human	1	name
8602434	CV40091	single nucleotide variant	NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	ACSF3-related disorder [RCV003407360]\|Combined malonic and methylmalonic acidemia [RCV000024130]\|not provided [RCV000185751]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	16	89154148	89154148	Human	1	name , trait , alternate_id
8602435	CV40092	single nucleotide variant	NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)	Combined malonic and methylmalonic acidemia [RCV000024131]	pathogenic	16	89146003	89146003	Human	1	name
8602436	CV40093	single nucleotide variant	NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	ACSF3-related disorder [RCV003415738]\|Combined malonic and methylmalonic acidemia [RCV000024132]\|Methylmalonic acidemia [RCV001274019]\|not provided [RCV000185748]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	89114436	89114436	Human	3	name , trait , alternate_id
8602437	CV40094	single nucleotide variant	NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	Combined malonic and methylmalonic acidemia [RCV000024133]\|Inborn genetic diseases [RCV004965263]\|Methylmalonic acidemia [RCV001274022]\|not provided [RCV001588825]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	89145311	89145311	Human	4	name
8602438	CV40095	single nucleotide variant	NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	Combined malonic and methylmalonic acidemia [RCV000024134]\|not provided [RCV001531864]\|not specified [RCV003226167]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	89145312	89145312	Human	1	name
8602439	CV40096	single nucleotide variant	NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)	Combined malonic and methylmalonic acidemia [RCV000024135]\|not provided [RCV005229827]\|not specified [RCV004689427]	pathogenic\|uncertain significance	16	89114434	89114434	Human	1	name
617154016	CV4022179	single nucleotide variant	NM_001243279.3(ACSF3):c.1202A>T (p.Tyr401Phe)	not provided [RCV005429535]	uncertain significance	16	89120876	89120876	Human		name
12902256	CV409782	single nucleotide variant	NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)	ACSF3-related disorder [RCV003401529]\|Combined malonic and methylmalonic acidemia [RCV001274046]\|Inborn genetic diseases [RCV004023130]\|not provided [RCV000486667]	uncertain significance	16	89133197	89133197	Human	2	name , trait , alternate_id
12914057	CV422124	single nucleotide variant	NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)	Combined malonic and methylmalonic acidemia [RCV003476188]\|not provided [RCV000494593]	pathogenic\|likely pathogenic	16	89114389	89114389	Human	1	name
12913852	CV422125	single nucleotide variant	NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn)	Combined malonic and methylmalonic acidemia [RCV003992302]\|Inborn genetic diseases [RCV003362802]\|Methylmalonic acidemia [RCV001274021]\|not provided [RCV000494337]	pathogenic\|uncertain significance	16	89145269	89145269	Human	4	name
13622454	CV530701	single nucleotide variant	NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	Combined malonic and methylmalonic acidemia [RCV000649671]\|not provided [RCV001093042]\|not specified [RCV002307575]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	89114442	89114442	Human	1	name
13813686	CV570613	single nucleotide variant	NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	Combined malonic and methylmalonic acidemia [RCV000690332]	pathogenic\|likely pathogenic	16	89145305	89145305	Human	1	name
14713205	CV645133	single nucleotide variant	NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	Combined malonic and methylmalonic acidemia [RCV000792573]	pathogenic\|likely pathogenic	16	89133196	89133196	Human	1	name
15147686	CV715202	single nucleotide variant	NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)	ACSF3-related disorder [RCV003960786]\|Combined malonic and methylmalonic acidemia [RCV000967389]	benign\|likely benign	16	89145998	89145998	Human	1	name , trait , alternate_id
15197778	CV726932	single nucleotide variant	NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)	ACSF3-related disorder [RCV003930771]\|Combined malonic and methylmalonic acidemia [RCV000890161]	likely benign	16	89145356	89145356	Human	1	name , trait , alternate_id
15154726	CV755542	single nucleotide variant	NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr)	Combined malonic and methylmalonic acidemia [RCV000924318]	likely benign	16	89120887	89120887	Human	1	name
15185223	CV771195	single nucleotide variant	NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg)	Combined malonic and methylmalonic acidemia [RCV000930999]	likely benign	16	89145294	89145294	Human	1	name
26895089	CV844486	single nucleotide variant	NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	Combined malonic and methylmalonic acidemia [RCV001047795]	pathogenic\|likely pathogenic	16	89133206	89133206	Human	1	name
26891553	CV844487	single nucleotide variant	NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	Combined malonic and methylmalonic acidemia [RCV001046509]	pathogenic\|likely pathogenic	16	89145971	89145971	Human	1	name
26917655	CV844488	single nucleotide variant	NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)	Combined malonic and methylmalonic acidemia [RCV001057166]	pathogenic\|likely pathogenic	16	89146009	89146009	Human	1	name
26912343	CV844490	single nucleotide variant	NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)	Combined malonic and methylmalonic acidemia [RCV001039227]	pathogenic\|likely pathogenic	16	89146043	89146043	Human	1	name
38488567	CV928005	single nucleotide variant	NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)	Combined malonic and methylmalonic acidemia [RCV001221292]	uncertain significance	16	89114482	89114482	Human	1	name
38456236	CV949630	single nucleotide variant	NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)	Combined malonic and methylmalonic acidemia [RCV001228285]	uncertain significance	16	89145365	89145365	Human	1	name
38461144	CV957918	single nucleotide variant	NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)	Combined malonic and methylmalonic acidemia [RCV001246878]	uncertain significance	16	89114421	89114421	Human	1	name
38495434	CV957919	single nucleotide variant	NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)	Combined malonic and methylmalonic acidemia [RCV001241937]\|Inborn genetic diseases [RCV002568546]\|not provided [RCV002564012]\|not specified [RCV003331087]	uncertain significance	16	89145979	89145979	Human	2	name
38468609	CV957920	single nucleotide variant	NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)	Combined malonic and methylmalonic acidemia [RCV001248069]	conflicting interpretations of pathogenicity\|uncertain significance	16	89145989	89145989	Human	1	name
40905939	CV979851	single nucleotide variant	NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)	Combined malonic and methylmalonic acidemia [RCV002504406]\|Methylmalonic acidemia [RCV001279227]	uncertain significance	16	89114374	89114374	Human	3	name
40905940	CV979852	single nucleotide variant	NM_001243279.3(ACSF3):c.1043G>A (p.Gly348Asp)	Methylmalonic acidemia [RCV001279228]	uncertain significance	16	89114404	89114404	Human	2	name
40905942	CV979854	single nucleotide variant	NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)	Combined malonic and methylmalonic acidemia [RCV001335556]\|Inborn genetic diseases [RCV002541704]\|Methylmalonic acidemia [RCV001279230]	uncertain significance	16	89114457	89114457	Human	4	name
40905943	CV979855	single nucleotide variant	NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)	Combined malonic and methylmalonic acidemia [RCV001514024]\|Methylmalonic acidemia [RCV001279231]\|not provided [RCV001713077]\|not specified [RCV001529500]	benign	16	89114475	89114475	Human	3	name
40905945	CV979857	single nucleotide variant	NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met)	Methylmalonic acidemia [RCV001279233]	uncertain significance	16	89120912	89120912	Human	2	name
40906950	CV979859	single nucleotide variant	NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)	Combined malonic and methylmalonic acidemia [RCV003479307]\|Inborn genetic diseases [RCV004035510]\|Methylmalonic acidemia [RCV001280410]	likely benign\|uncertain significance	16	89133230	89133230	Human	4	name
40906953	CV979862	single nucleotide variant	NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)	Combined malonic and methylmalonic acidemia [RCV002537895]\|Inborn genetic diseases [RCV004967947]\|Methylmalonic acidemia [RCV001280413]	uncertain significance	16	89145275	89145275	Human	4	name
40906954	CV979863	single nucleotide variant	NM_001243279.3(ACSF3):c.1571A>G (p.Glu524Gly)	Methylmalonic acidemia [RCV001280414]	uncertain significance	16	89146007	89146007	Human	2	name
40906961	CV979870	single nucleotide variant	NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)	Combined malonic and methylmalonic acidemia [RCV001559235]\|Methylmalonic acidemia [RCV001280421]	uncertain significance	16	89154119	89154119	Human	3	name
40906962	CV979871	single nucleotide variant	NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	Combined malonic and methylmalonic acidemia [RCV002499489]\|Methylmalonic acidemia [RCV001280422]\|not specified [RCV004699265]	conflicting interpretations of pathogenicity\|uncertain significance	16	89154149	89154149	Human	3	name
40906963	CV979872	single nucleotide variant	NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)	Combined malonic and methylmalonic acidemia [RCV002480926]\|Inborn genetic diseases [RCV003294180]\|Methylmalonic acidemia [RCV001280423]	uncertain significance	16	89154179	89154179	Human	4	name
127263458	CV1063782	deletion	NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	Combined malonic and methylmalonic acidemia [RCV001387960]	pathogenic\|likely pathogenic	16	89100833	89100839	Human	1	name
127249110	CV1063783	duplication	NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)	Combined malonic and methylmalonic acidemia [RCV001385042]	pathogenic	16	89100866	89100867	Human	1	name
150548084	CV1314125	deletion	NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	Combined malonic and methylmalonic acidemia [RCV001785878]	likely pathogenic	16	89100813	89100823	Human	1	name
156181464	CV2058650	microsatellite	NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs)	Combined malonic and methylmalonic acidemia [RCV002828317]	pathogenic	16	89100974	89100975	Human		name
401941120	CV2838833	microsatellite	NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)	Combined malonic and methylmalonic acidemia [RCV003460366]	likely pathogenic	16	89100942	89100943	Human		name
401941122	CV2838835	deletion	NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs)	Combined malonic and methylmalonic acidemia [RCV003460368]	likely pathogenic	16	89100868	89100878	Human	1	name
401949686	CV2838895	deletion	NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)	Combined malonic and methylmalonic acidemia [RCV003474520]	likely pathogenic	16	89100827	89100833	Human	1	name
40906959	CV979868	insertion	NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG	Methylmalonic acidemia [RCV001280419]	uncertain significance	16	89146057	89146058	Human	2	name
127269397	CV1063786	deletion	NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)	Combined malonic and methylmalonic acidemia [RCV001389505]	pathogenic	16	89101324	89101328	Human	1	name
156343483	CV2186092	duplication	NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs)	Combined malonic and methylmalonic acidemia [RCV003047875]	pathogenic	16	89101081	89101082	Human	1	name
401941138	CV2838851	deletion	NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)	Combined malonic and methylmalonic acidemia [RCV003460384]	likely pathogenic	16	89101087	89101088	Human	1	name
401949647	CV2838887	indel	NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG	Combined malonic and methylmalonic acidemia [RCV003474512]	likely pathogenic	16	89145226	89145298	Human		name
401949773	CV2838957	duplication	NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)	Combined malonic and methylmalonic acidemia [RCV003475644]	likely pathogenic	16	89102733	89102734	Human	1	name
401948441	CV2839005	microsatellite	NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)	Combined malonic and methylmalonic acidemia [RCV003466704]	likely pathogenic	16	89102683	89102684	Human		name
402490904	CV2981517	duplication	NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)	Combined malonic and methylmalonic acidemia [RCV003643819]	pathogenic	16	89112164	89112165	Human	1	name
402481075	CV3069221	deletion	NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)	Combined malonic and methylmalonic acidemia [RCV003642740]	pathogenic	16	89102746	89102752	Human	1	name
405872439	CV3399949	deletion	NM_001243279.3(ACSF3):c.516_522del (p.Ala173fs)	Combined malonic and methylmalonic acidemia [RCV004575452]	likely pathogenic	16	89101196	89101202	Human	1	name
151807555	CV1477652	microsatellite	NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)	Combined malonic and methylmalonic acidemia [RCV001953501]	pathogenic\|likely pathogenic	16	89120855	89120856	Human		name
156281111	CV2042836	microsatellite	NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs)	Combined malonic and methylmalonic acidemia [RCV002770389]	pathogenic	16	89120899	89120900	Human		name
401941114	CV2838827	duplication	NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs)	Combined malonic and methylmalonic acidemia [RCV003460360]	likely pathogenic	16	89145997	89145998	Human	1	name
405872479	CV3399978	microsatellite	NM_001243279.3(ACSF3):c.1333_1334del (p.Ser445fs)	Combined malonic and methylmalonic acidemia [RCV004575482]	likely pathogenic	16	89133227	89133228	Human		name
597714187	CV3715871	duplication	NM_001243279.3(ACSF3):c.1485_1486dup (p.His496fs)	Combined malonic and methylmalonic acidemia [RCV005010056]	likely pathogenic	16	89145383	89145384	Human	1	name
38466902	CV949629	deletion	NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)	Combined malonic and methylmalonic acidemia [RCV001230340]	likely pathogenic	16	89145306	89145307	Human	1	name
38458440	CV957921	indel	NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)	Combined malonic and methylmalonic acidemia [RCV001246335]	likely pathogenic	16	89154105	89154105	Human		name
12900704	CV409780	insertion	NM_174917.4(ACSF3):c.-15_-14insCCCAGGAGGCTCCCGGGAG	not specified [RCV000482996]	benign	16	89100667	89100668	Human		name
151854137	CV1511071	indel	NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)	Combined malonic and methylmalonic acidemia [RCV001979318]	uncertain significance	16	89100996	89100997	Human		name
10056143	CV200301	insertion	NM_001243279.3(ACSF3):c.-14_-13insCCAGGAGGCTCCCGGGAGC	not specified [RCV000185745]	benign	16	89100667	89100668	Human		name
127258177	CV1063796	insertion	NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs)	Combined malonic and methylmalonic acidemia [RCV001386893]	pathogenic	16	89154099	89154100	Human		name
597758825	CV3715861	indel	NM_001243279.3(ACSF3):c.342_344delinsCTG (p.Ser115Ter)	Combined malonic and methylmalonic acidemia [RCV005017888]	likely pathogenic	16	89101023	89101025	Human		name
597699178	CV1689680	deletion	NM_001243279.3(ACSF3):c.1394_1411del (p.Gln465_Gly470del)	Combined malonic and methylmalonic acidemia [RCV005008501]	likely pathogenic	16	89145290	89145307	Human	1	name
401949760	CV2838944	indel	NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs)	Combined malonic and methylmalonic acidemia [RCV003475631]	likely pathogenic	16	89154100	89154107	Human		name
405872448	CV3399954	deletion	NM_001243279.3(ACSF3):c.1382_1383del (p.Val460_Phe461insTer)	Combined malonic and methylmalonic acidemia [RCV004575457]	likely pathogenic	16	89145281	89145282	Human	1	name
401949768	CV2838952	indel	NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)	Combined malonic and methylmalonic acidemia [RCV003475639]	likely pathogenic	16	89101154	89101162	Human		name
12893806	CV409783	deletion	NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	Combined malonic and methylmalonic acidemia [RCV001383441]\|Methylmalonic acidemia [RCV001274023]\|not provided [RCV000480293]	pathogenic	16	89145345	89145346	Human	3	name
156343314	CV1871471	indel	NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)	Combined malonic and methylmalonic acidemia [RCV003064368]\|not specified [RCV003235762]	conflicting interpretations of pathogenicity\|uncertain significance	16	89145285	89145307	Human		name
402493063	CV2999422	duplication	NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)	Combined malonic and methylmalonic acidemia [RCV003644048]	pathogenic	16	89101003	89101004	Human	1	name

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