Abhd12 Variant Search Result - Rat Genome Database

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595 records found for search term Abhd12

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
617150261	CV4019186	single nucleotide variant	NM_001042472.3(ABHD12):c.-3G>C	not provided [RCV005423594]	uncertain significance	20	25390706	25390706	Human		name
150443106	CV1205079	single nucleotide variant	NM_001042472.3(ABHD12):c.*13G>T	not provided [RCV001583922]	likely benign	20	25300832	25300832	Human		name
150474923	CV1278956	single nucleotide variant	NM_001042472.3(ABHD12):c.-48G>A	not provided [RCV001713767]	benign	20	25390751	25390751	Human		name
405274904	CV3214304	single nucleotide variant	NM_015600.5(ABHD12):c.1158-8T>C	ABHD12-related disorder [RCV003932004]	likely benign	20	25295038	25295038	Human		name , trait , alternate_id
11631413	CV344843	single nucleotide variant	NM_001042472.3(ABHD12):c.-44C>G	PHARC syndrome [RCV000377467]\|not provided [RCV001613103]	benign\|uncertain significance	20	25390747	25390747	Human	1	name
11627630	CV350788	single nucleotide variant	NM_001042472.3(ABHD12):c.*83G>A	PHARC syndrome [RCV000285470]\|not provided [RCV001683348]	benign	20	25300762	25300762	Human	1	name
11630062	CV350789	single nucleotide variant	NM_001042472.3(ABHD12):c.*45G>C	PHARC syndrome [RCV000340407]	uncertain significance	20	25300800	25300800	Human	1	name
11629273	CV350796	single nucleotide variant	NM_001042472.3(ABHD12):c.-94C>T	PHARC syndrome [RCV000319286]\|not provided [RCV001712125]	benign\|likely benign	20	25390797	25390797	Human	1	name
28900150	CV885937	single nucleotide variant	NM_001042472.3(ABHD12):c.*22A>G	PHARC syndrome [RCV001142651]\|not provided [RCV001550297]	likely benign\|uncertain significance	20	25300823	25300823	Human	1	name
150495963	CV1205948	deletion	NM_015600.5(ABHD12):c.1158-92del	not provided [RCV001593630]	likely benign	20	25295122	25295122	Human		name
11623992	CV335045	single nucleotide variant	NM_001042472.3(ABHD12):c.*148C>T	PHARC syndrome [RCV000379946]\|not provided [RCV001672590]	benign	20	25300697	25300697	Human	1	name
11662738	CV335075	single nucleotide variant	NM_001042472.2(ABHD12):c.-260G>A	PHARC syndrome [RCV000388933]	uncertain significance	20	25390963	25390963	Human	1	name
11646981	CV344830	single nucleotide variant	NM_001042472.3(ABHD12):c.*377C>T	PHARC syndrome [RCV000273574]	uncertain significance	20	25300468	25300468	Human	1	name
11627803	CV344832	single nucleotide variant	NM_001042472.3(ABHD12):c.*321G>T	PHARC syndrome [RCV000288684]	benign\|likely benign	20	25300524	25300524	Human	1	name
11629508	CV344834	single nucleotide variant	NM_001042472.3(ABHD12):c.*297C>G	PHARC syndrome [RCV000325016]\|not provided [RCV001534919]	benign	20	25300548	25300548	Human	1	name
11629855	CV344851	single nucleotide variant	NM_001042472.2(ABHD12):c.-221G>A	PHARC syndrome [RCV000334337]	uncertain significance	20	25390924	25390924	Human	1	name
11629760	CV349775	single nucleotide variant	NM_001042472.3(ABHD12):c.*454G>A	PHARC syndrome [RCV000332184]\|not provided [RCV004703816]	likely benign	20	25300391	25300391	Human	1	name
11660563	CV349778	deletion	NM_001042472.3(ABHD12):c.*414del	PHARC syndrome [RCV000368074]	uncertain significance	20	25300431	25300431	Human	1	name
11655835	CV349781	single nucleotide variant	NM_001042472.3(ABHD12):c.*353G>A	PHARC syndrome [RCV000328464]	uncertain significance	20	25300492	25300492	Human	1	name
11627302	CV349784	single nucleotide variant	NM_001042472.2(ABHD12):c.-220G>A	PHARC syndrome [RCV000279252]\|not provided [RCV001613104]	benign	20	25390923	25390923	Human	1	name
11661168	CV350797	single nucleotide variant	NM_001042472.3(ABHD12):c.-118T>C	PHARC syndrome [RCV000373803]	uncertain significance	20	25390821	25390821	Human	1	name
28893195	CV885932	single nucleotide variant	NM_001042472.3(ABHD12):c.*541G>A	PHARC syndrome [RCV001140043]\|not provided [RCV004717759]	benign	20	25300304	25300304	Human	1	name
28895233	CV885933	single nucleotide variant	NM_001042472.3(ABHD12):c.*331G>C	PHARC syndrome [RCV001140797]	uncertain significance	20	25300514	25300514	Human	1	name
28895238	CV885934	single nucleotide variant	NM_001042472.3(ABHD12):c.*331G>A	PHARC syndrome [RCV001140798]	uncertain significance	20	25300514	25300514	Human	1	name
28900144	CV885935	single nucleotide variant	NM_001042472.3(ABHD12):c.*177C>T	PHARC syndrome [RCV001142649]	uncertain significance	20	25300668	25300668	Human	1	name
28900147	CV885936	single nucleotide variant	NM_001042472.3(ABHD12):c.*149G>A	PHARC syndrome [RCV001142650]	uncertain significance	20	25300696	25300696	Human	1	name
126734838	CV1021974	single nucleotide variant	NM_001042472.3(ABHD12):c.867+2C>T	PHARC syndrome [RCV001780256]\|not provided [RCV001338578]	pathogenic\|uncertain significance	20	25307964	25307964	Human	1	name
127256200	CV1064793	single nucleotide variant	NM_001042472.3(ABHD12):c.316+2T>A	not provided [RCV001386507]	pathogenic	20	25339225	25339225	Human		name
127233312	CV1085191	single nucleotide variant	NM_001042472.3(ABHD12):c.619+7T>G	not provided [RCV001396070]	likely benign	20	25314918	25314918	Human		name
127262250	CV1106905	deletion	NM_001042472.3(ABHD12):c.788-7del	not provided [RCV001438896]	likely benign	20	25308052	25308052	Human		name
127279693	CV1106909	single nucleotide variant	NM_001042472.3(ABHD12):c.316+8G>A	not provided [RCV001445940]	likely benign	20	25339219	25339219	Human		name
127330461	CV1128325	single nucleotide variant	NM_001042472.3(ABHD12):c.868-4C>A	not provided [RCV001470874]	likely benign	20	25306919	25306919	Human		name
127318566	CV1128329	single nucleotide variant	NM_001042472.3(ABHD12):c.317-5T>C	not provided [RCV001466257]	likely benign	20	25323435	25323435	Human		name
127322363	CV1149262	single nucleotide variant	NM_001042472.3(ABHD12):c.868-7T>C	not provided [RCV001484914]	likely benign	20	25306922	25306922	Human		name
127290869	CV1149264	single nucleotide variant	NM_001042472.3(ABHD12):c.573+7G>A	not provided [RCV001496084]	likely benign	20	25317041	25317041	Human		name
150513783	CV1210678	single nucleotide variant	NM_015600.5(ABHD12):c.1158-204T>C	not provided [RCV001598719]	benign	20	25295234	25295234	Human		name
150439005	CV1221249	single nucleotide variant	NM_015600.5(ABHD12):c.1158-224G>T	not provided [RCV001609943]	benign	20	25295254	25295254	Human		name
150458876	CV1236000	single nucleotide variant	NM_015600.5(ABHD12):c.1158-177G>A	not provided [RCV001648971]	benign	20	25295207	25295207	Human		name
150507093	CV1242374	single nucleotide variant	NM_015600.5(ABHD12):c.1158-129G>C	not provided [RCV001658729]	benign	20	25295159	25295159	Human		name
151852366	CV1376059	single nucleotide variant	NM_001042472.3(ABHD12):c.191+6G>A	not provided [RCV001996131]	uncertain significance	20	25390507	25390507	Human		name
151815073	CV1382463	deletion	NM_001042472.3(ABHD12):c.951-9del	not provided [RCV001992202]	likely benign\|uncertain significance	20	25303637	25303637	Human		name
151715260	CV1385228	single nucleotide variant	NM_001042472.3(ABHD12):c.951-1G>A	not provided [RCV002002808]	likely pathogenic	20	25303629	25303629	Human		name
151819885	CV1386921	single nucleotide variant	NM_001042472.3(ABHD12):c.191+4A>G	not provided [RCV001954655]	uncertain significance	20	25390509	25390509	Human		name
151722754	CV1406698	single nucleotide variant	NM_001042472.3(ABHD12):c.574-6T>G	not provided [RCV002003899]	uncertain significance	20	25314976	25314976	Human		name
152163496	CV1619021	single nucleotide variant	NM_001042472.3(ABHD12):c.191+7C>A	not provided [RCV002123619]	likely benign	20	25390506	25390506	Human		name
152034773	CV1635017	single nucleotide variant	NM_001042472.3(ABHD12):c.542+9G>T	not provided [RCV002087028]	likely benign	20	25320190	25320190	Human		name
329356650	CV1708462	single nucleotide variant	NM_001042472.3(ABHD12):c.788-1G>T	PHARC syndrome [RCV003164454]	likely pathogenic	20	25308046	25308046	Human	1	name
10053189	CV195921	single nucleotide variant	NM_001042472.3(ABHD12):c.787+3G>A	not provided [RCV000180201]	conflicting interpretations of pathogenicity\|uncertain significance	20	25308454	25308454	Human		name
156409350	CV1961762	single nucleotide variant	NM_001042472.3(ABHD12):c.951-9C>T	not provided [RCV002586790]	likely benign	20	25303637	25303637	Human		name
155967517	CV1967814	single nucleotide variant	NM_001042472.3(ABHD12):c.192-4G>A	not provided [RCV002617023]	likely benign	20	25339355	25339355	Human		name
156076384	CV1985679	single nucleotide variant	NM_001042472.3(ABHD12):c.620-3C>T	not provided [RCV002638756]	uncertain significance	20	25309578	25309578	Human		name
156099681	CV1991112	single nucleotide variant	NM_001042472.3(ABHD12):c.788-8T>C	not provided [RCV002622164]	likely benign	20	25308053	25308053	Human		name
156348970	CV2005458	single nucleotide variant	NM_001042472.3(ABHD12):c.750-3T>C	not provided [RCV002650738]	uncertain significance	20	25308497	25308497	Human		name
156377596	CV2050598	single nucleotide variant	NM_001042472.3(ABHD12):c.192-3C>T	not provided [RCV002814826]	uncertain significance	20	25339354	25339354	Human		name
156256778	CV2090079	single nucleotide variant	NM_001042472.3(ABHD12):c.620-9C>T	not provided [RCV002877129]	likely benign	20	25309584	25309584	Human		name
155977358	CV2132490	single nucleotide variant	NM_001042472.3(ABHD12):c.574-3C>A	not provided [RCV002995922]	uncertain significance	20	25314973	25314973	Human		name
155910283	CV2156952	single nucleotide variant	NM_001042472.3(ABHD12):c.868-8G>A	not provided [RCV003012202]	likely benign	20	25306923	25306923	Human		name
156070857	CV2172608	single nucleotide variant	NM_001042472.3(ABHD12):c.619+8T>G	not provided [RCV003053712]	likely benign	20	25314917	25314917	Human		name
405011336	CV2933704	single nucleotide variant	NM_001042472.3(ABHD12):c.750-6T>G	not provided [RCV003576758]	likely benign	20	25308500	25308500	Human		name
402478567	CV2980379	single nucleotide variant	NM_001042472.3(ABHD12):c.423-7T>C	not provided [RCV003686346]	likely benign	20	25320325	25320325	Human		name
405012808	CV3128223	single nucleotide variant	NM_001042472.3(ABHD12):c.750-2A>G	not provided [RCV003829103]	likely pathogenic	20	25308496	25308496	Human		name
405209510	CV3162598	single nucleotide variant	NM_001042472.3(ABHD12):c.422+5G>A	not provided [RCV003861897]	uncertain significance	20	25323320	25323320	Human		name
408366444	CV3509556	single nucleotide variant	NM_001042472.3(ABHD12):c.620-7C>T	ABHD12-related disorder [RCV004756671]	likely benign	20	25309582	25309582	Human		name , trait , alternate_id
597961937	CV3795315	single nucleotide variant	NM_001042472.3(ABHD12):c.191+8T>C	not provided [RCV005139007]	likely benign	20	25390505	25390505	Human		name
597940334	CV3818836	single nucleotide variant	NM_001042472.3(ABHD12):c.620-4C>T	not provided [RCV005158842]	likely benign	20	25309579	25309579	Human		name
597976211	CV3829228	single nucleotide variant	NM_001042472.3(ABHD12):c.749+9C>A	not provided [RCV005169677]	likely benign	20	25309437	25309437	Human		name
616933995	CV4011971	single nucleotide variant	NM_001042472.3(ABHD12):c.867+5G>A	not specified [RCV005408521]	uncertain significance	20	25307961	25307961	Human		name
13435150	CV431810	single nucleotide variant	NM_001042472.3(ABHD12):c.620-2A>G	PHARC syndrome [RCV001542617]\|Retinal dystrophy [RCV000505023]	likely pathogenic	20	25309577	25309577	Human	3	name
26910895	CV857299	single nucleotide variant	NM_001042472.3(ABHD12):c.750-4C>G	ABHD12-related disorder [RCV003938436]\|Retinal dystrophy [RCV001075629]	likely benign\|uncertain significance	20	25308498	25308498	Human	3	name , trait , alternate_id
28893526	CV887436	single nucleotide variant	NM_001042472.3(ABHD12):c.542+6G>A	PHARC syndrome [RCV001140162]	uncertain significance	20	25320193	25320193	Human	1	name
38465261	CV960311	single nucleotide variant	NM_001042472.3(ABHD12):c.951-3C>T	not provided [RCV001237961]	uncertain significance	20	25303631	25303631	Human		name
38462492	CV960312	single nucleotide variant	NM_001042472.3(ABHD12):c.573+8C>T	not provided [RCV001232782]	likely benign\|uncertain significance	20	25317040	25317040	Human		name
38468922	CV960936	single nucleotide variant	NM_001042472.3(ABHD12):c.749+1G>A	not provided [RCV001245826]	likely pathogenic	20	25309445	25309445	Human		name
127276412	CV1085189	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+8C>T	not provided [RCV001407154]	likely benign	20	25303542	25303542	Human		name
127264022	CV1085190	single nucleotide variant	NM_001042472.3(ABHD12):c.787+12G>C	not provided [RCV001403142]	likely benign	20	25308445	25308445	Human		name
127269677	CV1106906	single nucleotide variant	NM_001042472.3(ABHD12):c.788-11T>G	not provided [RCV001441139]	likely benign\|conflicting interpretations of pathogenicity	20	25308056	25308056	Human		name
127310426	CV1128330	single nucleotide variant	NM_001042472.3(ABHD12):c.191+12C>G	not provided [RCV001463850]	likely benign	20	25390501	25390501	Human		name
127337634	CV1149259	single nucleotide variant	NM_001042472.3(ABHD12):c.1158-6G>T	not provided [RCV001492957]	likely benign	20	25300890	25300890	Human		name
127334044	CV1149266	single nucleotide variant	NM_001042472.3(ABHD12):c.191+10C>T	not provided [RCV001490573]	likely benign	20	25390503	25390503	Human		name
150332514	CV1173334	single nucleotide variant	NM_001042472.3(ABHD12):c.191+19C>G	not provided [RCV001539073]	benign	20	25390494	25390494	Human		name
150410490	CV1178446	single nucleotide variant	NM_001042472.3(ABHD12):c.868-86T>A	not provided [RCV001546667]	likely benign	20	25307001	25307001	Human		name
150411012	CV1178450	single nucleotide variant	NM_001042472.3(ABHD12):c.191+26G>A	not provided [RCV001546935]	likely benign	20	25390487	25390487	Human		name
150404643	CV1179008	single nucleotide variant	NM_001042472.3(ABHD12):c.951-79A>G	PHARC syndrome [RCV001549027]\|not provided [RCV001647415]	benign	20	25303707	25303707	Human	1	name
150404756	CV1179010	single nucleotide variant	NM_001042472.3(ABHD12):c.191+24G>C	PHARC syndrome [RCV001549198]\|not provided [RCV001713035]	benign	20	25390489	25390489	Human	1	name
150422334	CV1181843	single nucleotide variant	NM_001042472.3(ABHD12):c.867+25T>A	not provided [RCV001552511]	likely benign	20	25307941	25307941	Human		name
150419022	CV1181845	single nucleotide variant	NM_001042472.3(ABHD12):c.749+86C>T	not provided [RCV001550854]	likely benign	20	25309360	25309360	Human		name
150423024	CV1181846	single nucleotide variant	NM_001042472.3(ABHD12):c.574-52C>T	not provided [RCV001553451]	likely benign	20	25315022	25315022	Human		name
150427845	CV1188844	single nucleotide variant	NM_001042472.3(ABHD12):c.788-23C>T	not provided [RCV001561468]	likely benign	20	25308068	25308068	Human		name
150404885	CV1195484	single nucleotide variant	NM_001042472.3(ABHD12):c.573+39T>C	not provided [RCV001571382]	likely benign	20	25317009	25317009	Human		name
150432927	CV1200895	single nucleotide variant	NM_001042472.3(ABHD12):c.422+69G>C	not provided [RCV001581619]	likely benign	20	25323256	25323256	Human		name
150433064	CV1203533	single nucleotide variant	NM_001042472.3(ABHD12):c.787+80G>T	not provided [RCV001581688]	likely benign	20	25308377	25308377	Human		name
150467387	CV1218461	single nucleotide variant	NM_001042472.3(ABHD12):c.191+14C>G	not provided [RCV001614498]	benign	20	25390499	25390499	Human		name
150431340	CV1243663	single nucleotide variant	NM_001042472.3(ABHD12):c.317-45T>C	not provided [RCV001663283]	benign	20	25323475	25323475	Human		name
150474768	CV1252911	single nucleotide variant	NM_001042472.3(ABHD12):c.867+97G>A	not provided [RCV001671819]	benign	20	25307869	25307869	Human		name
150493104	CV1257486	single nucleotide variant	NM_001042472.3(ABHD12):c.191+17A>G	not provided [RCV001675159]	benign\|likely benign	20	25390496	25390496	Human		name
150462973	CV1263737	single nucleotide variant	NM_001042472.3(ABHD12):c.191+24G>T	not provided [RCV001682438]	benign	20	25390489	25390489	Human		name
150495340	CV1272610	microsatellite	NM_015600.5(ABHD12):c.*44AACTAA[1]	not provided [RCV001688533]	benign	20	25294918	25294923	Human		name
150479523	CV1282302	single nucleotide variant	NM_001042472.3(ABHD12):c.422+29C>T	not provided [RCV001714480]	benign	20	25323296	25323296	Human		name
150493890	CV1282303	single nucleotide variant	NM_001042472.3(ABHD12):c.191+36C>G	not provided [RCV001717099]	benign	20	25390477	25390477	Human		name
151233058	CV1317702	single nucleotide variant	NM_001042472.3(ABHD12):c.750-12C>T	not provided [RCV001787468]	likely benign	20	25308506	25308506	Human		name
151750758	CV1335585	single nucleotide variant	NM_001042472.3(ABHD12):c.750-26A>G	not provided [RCV001847427]	likely benign	20	25308520	25308520	Human		name
151811488	CV1448659	deletion	NM_001042472.3(ABHD12):c.1158-8del	not provided [RCV001974818]	likely benign\|uncertain significance	20	25300892	25300892	Human		name
152118401	CV1535023	single nucleotide variant	NM_001042472.3(ABHD12):c.543-10T>C	not provided [RCV002153942]	likely benign	20	25317088	25317088	Human		name
152088963	CV1539895	single nucleotide variant	NM_001042472.3(ABHD12):c.191+20G>T	not provided [RCV002131803]	likely benign	20	25390493	25390493	Human		name
152147112	CV1545967	single nucleotide variant	NM_001042472.3(ABHD12):c.787+19C>T	not provided [RCV002157601]	benign	20	25308438	25308438	Human		name
152051839	CV1569367	single nucleotide variant	NM_001042472.3(ABHD12):c.574-16A>G	not provided [RCV002207619]	benign	20	25314986	25314986	Human		name
152162340	CV1606301	single nucleotide variant	NM_001042472.3(ABHD12):c.423-10C>T	not provided [RCV002181145]	likely benign	20	25320328	25320328	Human		name
152109644	CV1617511	single nucleotide variant	NM_001042472.3(ABHD12):c.868-15C>T	not provided [RCV002116382]	likely benign	20	25306930	25306930	Human		name
152030798	CV1622354	single nucleotide variant	NM_001042472.3(ABHD12):c.868-13A>G	not provided [RCV002186562]	likely benign	20	25306928	25306928	Human		name
152065983	CV1646936	single nucleotide variant	NM_001042472.3(ABHD12):c.191+20G>C	not provided [RCV002128981]	likely benign	20	25390493	25390493	Human		name
152174032	CV1660231	single nucleotide variant	NM_001042472.3(ABHD12):c.620-16C>T	not provided [RCV002163013]	likely benign	20	25309591	25309591	Human		name
155717805	CV1780675	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+3G>C	not provided [RCV002306276]	not provided	20	25302216	25302216	Human		name
156373381	CV1953515	deletion	NM_001042472.3(ABHD12):c.542+13del	not provided [RCV002582603]	likely benign	20	25320186	25320186	Human		name
156143646	CV1973724	deletion	NM_001042472.3(ABHD12):c.191+13del	not provided [RCV002593916]	likely benign	20	25390500	25390500	Human		name
156191782	CV1974499	duplication	NM_001042472.3(ABHD12):c.317-12dup	not provided [RCV002625443]	likely benign	20	25323441	25323442	Human		name
156192172	CV1974541	single nucleotide variant	NM_001042472.3(ABHD12):c.620-11C>T	not provided [RCV002625454]	likely benign	20	25309586	25309586	Human		name
156043783	CV1977947	single nucleotide variant	NM_001042472.3(ABHD12):c.788-14G>A	not provided [RCV002590425]	likely benign	20	25308059	25308059	Human		name
156250930	CV1984757	single nucleotide variant	NM_001042472.3(ABHD12):c.620-15G>A	not provided [RCV002645894]	likely benign	20	25309590	25309590	Human		name
156298114	CV2005577	single nucleotide variant	NM_001042472.3(ABHD12):c.950+14G>A	not provided [RCV002671036]	likely benign	20	25306819	25306819	Human		name
156012869	CV2013110	single nucleotide variant	NM_001042472.3(ABHD12):c.950+12G>A	not provided [RCV002734988]	likely benign	20	25306821	25306821	Human		name
155970192	CV2062420	single nucleotide variant	NM_001042472.3(ABHD12):c.191+18G>A	not provided [RCV002842041]	likely benign	20	25390495	25390495	Human		name
155991491	CV2066833	single nucleotide variant	NM_001042472.3(ABHD12):c.423-12T>G	not provided [RCV002842977]	likely benign	20	25320330	25320330	Human		name
156390088	CV2122388	single nucleotide variant	NM_001042472.3(ABHD12):c.316+17C>T	not provided [RCV002943807]	likely benign	20	25339210	25339210	Human		name
156215081	CV2127946	single nucleotide variant	NM_001042472.3(ABHD12):c.316+13T>C	not provided [RCV002957911]	likely benign	20	25339214	25339214	Human		name
156244665	CV2147701	single nucleotide variant	NM_001042472.3(ABHD12):c.573+13A>G	not provided [RCV003026132]	likely benign	20	25317035	25317035	Human		name
156103277	CV2164502	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+1G>T	not provided [RCV003038663]	likely pathogenic	20	25303549	25303549	Human		name
156069577	CV2176310	single nucleotide variant	NM_001042472.3(ABHD12):c.422+16C>T	not provided [RCV003053676]	uncertain significance	20	25323309	25323309	Human		name
405013238	CV2933921	duplication	NM_001042472.3(ABHD12):c.1158-5dup	not provided [RCV003576846]	likely benign	20	25300888	25300889	Human		name
402520878	CV2940105	single nucleotide variant	NM_001042472.3(ABHD12):c.1030-7T>C	Syndromic retinitis pigmentosa [RCV005419664]\|not provided [RCV003663296]	likely benign\|uncertain significance	20	25302353	25302353	Human	1	name
402489323	CV2941714	single nucleotide variant	NM_001042472.3(ABHD12):c.750-15T>C	not provided [RCV003660393]	likely benign	20	25308509	25308509	Human		name
405229262	CV2980880	single nucleotide variant	NM_001042472.3(ABHD12):c.620-20C>T	not provided [RCV003711165]	likely benign	20	25309595	25309595	Human		name
405239391	CV2997112	single nucleotide variant	NM_001042472.3(ABHD12):c.191+16G>T	not provided [RCV003718855]	likely benign	20	25390497	25390497	Human		name
405121881	CV3126198	single nucleotide variant	NM_001042472.3(ABHD12):c.868-17T>G	not provided [RCV003814950]	likely benign	20	25306932	25306932	Human		name
405215867	CV3143317	single nucleotide variant	NM_001042472.3(ABHD12):c.951-20G>A	not provided [RCV003846481]	likely benign	20	25303648	25303648	Human		name
11622960	CV335060	single nucleotide variant	NM_001042472.3(ABHD12):c.543-13T>C	PHARC syndrome [RCV000366322]\|not provided [RCV002057728]	likely benign\|uncertain significance	20	25317091	25317091	Human	1	name
11666912	CV353583	single nucleotide variant	NM_015600.5(ABHD12):c.1157+2023C>T	PHARC syndrome [RCV000393403]	uncertain significance	20	25300196	25300196	Human	1	name
597922959	CV3738564	single nucleotide variant	NM_001042472.3(ABHD12):c.191+20G>A	not provided [RCV005074972]	likely benign	20	25390493	25390493	Human		name
597846886	CV3746278	single nucleotide variant	NM_001042472.3(ABHD12):c.868-17T>C	not provided [RCV005060096]\|not specified [RCV005407374]	likely benign	20	25306932	25306932	Human		name
597849292	CV3746569	single nucleotide variant	NM_001042472.3(ABHD12):c.951-13C>G	not provided [RCV005060388]	likely benign	20	25303641	25303641	Human		name
597925874	CV3748832	single nucleotide variant	NM_001042472.3(ABHD12):c.787+18C>T	not provided [RCV005075288]	likely benign	20	25308439	25308439	Human		name
597894072	CV3763577	single nucleotide variant	NM_001042472.3(ABHD12):c.316+16C>G	not provided [RCV005111158]	likely benign	20	25339211	25339211	Human		name
597875850	CV3775885	single nucleotide variant	NM_001042472.3(ABHD12):c.867+12T>C	not provided [RCV005123412]	likely benign	20	25307954	25307954	Human		name
597930685	CV3826998	single nucleotide variant	NM_001042472.3(ABHD12):c.619+17A>C	not provided [RCV005157011]	likely benign	20	25314908	25314908	Human		name
597833043	CV3831438	single nucleotide variant	NM_001042472.3(ABHD12):c.619+20A>G	not provided [RCV005170640]	likely benign	20	25314905	25314905	Human		name
597974985	CV3832161	single nucleotide variant	NM_001042472.3(ABHD12):c.423-18C>G	not provided [RCV005168897]	likely benign	20	25320336	25320336	Human		name
597928110	CV3851736	single nucleotide variant	NM_001042472.3(ABHD12):c.950+19G>A	not provided [RCV005206204]	likely benign	20	25306814	25306814	Human		name
13837237	CV588524	single nucleotide variant	NM_001042472.3(ABHD12):c.317-10T>A	not provided [RCV000733591]	conflicting interpretations of pathogenicity\|uncertain significance	20	25323440	25323440	Human		name
14731187	CV670451	single nucleotide variant	NM_001042472.3(ABHD12):c.573+44T>C	not provided [RCV000836007]	likely benign	20	25317004	25317004	Human		name
14731184	CV670454	single nucleotide variant	NM_001042472.3(ABHD12):c.423-68C>T	PHARC syndrome [RCV001549196]\|not provided [RCV000836005]	benign	20	25320386	25320386	Human	1	name
26910562	CV857300	single nucleotide variant	NM_001042472.3(ABHD12):c.620-16C>A	Retinal dystrophy [RCV001075132]	uncertain significance	20	25309591	25309591	Human	2	name
28895554	CV887437	single nucleotide variant	NM_001042472.3(ABHD12):c.191+15G>A	PHARC syndrome [RCV001140920]\|not provided [RCV001472250]	likely benign\|uncertain significance	20	25390498	25390498	Human	1	name
38471534	CV940498	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+3G>A	ABHD12-related disorder [RCV003963127]\|not provided [RCV001211271]	likely benign\|uncertain significance	20	25302216	25302216	Human	1	name , trait , alternate_id
127296453	CV1128324	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+10G>C	not provided [RCV001477357]	likely benign	20	25303540	25303540	Human		name
150335303	CV1173333	single nucleotide variant	NM_001042472.3(ABHD12):c.542+319C>T	not provided [RCV001540495]	likely benign	20	25319880	25319880	Human		name
150407961	CV1178447	single nucleotide variant	NM_001042472.3(ABHD12):c.316+296G>C	not provided [RCV001545741]	likely benign	20	25338931	25338931	Human		name
150410716	CV1178448	single nucleotide variant	NM_001042472.3(ABHD12):c.191+127C>T	not provided [RCV001546791]	likely benign	20	25390386	25390386	Human	1	name
150410716	CV1178448	single nucleotide variant	NM_001042472.3(ABHD12):c.191+127C>T	not provided [RCV001546791]	likely benign	20	25390386	25390387	Human	1	name
150423028	CV1181844	single nucleotide variant	NM_001042472.3(ABHD12):c.787+119G>A	not provided [RCV001553455]	likely benign	20	25308338	25308338	Human		name
150422823	CV1181847	single nucleotide variant	NM_001042472.3(ABHD12):c.317-329C>T	not provided [RCV001553169]	likely benign	20	25323759	25323759	Human		name
150428717	CV1188845	single nucleotide variant	NM_001042472.3(ABHD12):c.542+263G>A	not provided [RCV001562634]	likely benign	20	25319936	25319936	Human		name
150412530	CV1192226	single nucleotide variant	NM_001042472.3(ABHD12):c.1158-98G>A	not provided [RCV001566954]	likely benign	20	25300982	25300982	Human		name
150414186	CV1192229	single nucleotide variant	NM_001042472.3(ABHD12):c.951-271T>C	not provided [RCV001567435]	likely benign	20	25303899	25303899	Human		name
150408357	CV1195483	duplication	NM_001042472.3(ABHD12):c.750-285dup	not provided [RCV001572607]	likely benign	20	25308778	25308779	Human		name
150419870	CV1199205	single nucleotide variant	NM_001042472.3(ABHD12):c.867+253G>T	not provided [RCV001577365]	likely benign	20	25307713	25307713	Human		name
150416256	CV1199206	single nucleotide variant	NM_001042472.3(ABHD12):c.750-259G>A	not provided [RCV001575756]	likely benign	20	25308753	25308753	Human		name
150440217	CV1201657	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+85G>A	not provided [RCV001583469]	likely benign	20	25303465	25303465	Human		name
150456746	CV1202534	single nucleotide variant	NM_001042472.3(ABHD12):c.750-313A>C	not provided [RCV001586187]	likely benign	20	25308807	25308807	Human		name
150498661	CV1208957	single nucleotide variant	NM_001042472.3(ABHD12):c.191+176C>G	not provided [RCV001594174]	likely benign	20	25390337	25390337	Human		name
150464893	CV1215352	deletion	NM_001042472.3(ABHD12):c.619+246del	not provided [RCV001614051]	benign	20	25314679	25314679	Human		name
150506704	CV1226411	single nucleotide variant	NM_001042472.3(ABHD12):c.620-301G>T	not provided [RCV001635779]	benign	20	25309876	25309876	Human		name
150430143	CV1232018	single nucleotide variant	NM_001042472.3(ABHD12):c.620-332A>G	not provided [RCV001641280]	benign	20	25309907	25309907	Human		name
150470438	CV1247992	single nucleotide variant	NM_001042472.3(ABHD12):c.951-253A>C	not provided [RCV001671028]	benign	20	25303881	25303881	Human		name
150488482	CV1251675	single nucleotide variant	NM_001042472.3(ABHD12):c.574-181A>G	not provided [RCV001674347]	benign	20	25315151	25315151	Human		name
150502459	CV1254537	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+62G>T	not provided [RCV001677239]	benign	20	25303488	25303488	Human		name
150472124	CV1259242	single nucleotide variant	NM_001042472.3(ABHD12):c.749+205C>T	not provided [RCV001684488]	benign	20	25309241	25309241	Human		name
150437397	CV1262298	single nucleotide variant	NM_001042472.3(ABHD12):c.192-241A>T	not provided [RCV001678656]	benign	20	25339592	25339592	Human		name
150454598	CV1266036	single nucleotide variant	NM_001042472.3(ABHD12):c.543-195C>T	not provided [RCV001692613]	benign	20	25317273	25317273	Human		name
150455362	CV1277782	single nucleotide variant	NM_001042472.3(ABHD12):c.317-223C>T	not provided [RCV001708959]	benign	20	25323653	25323653	Human		name
152115805	CV1540867	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+18C>T	not provided [RCV002197381]	likely benign	20	25303532	25303532	Human		name
152152047	CV1664412	single nucleotide variant	NM_001042472.3(ABHD12):c.1030-14C>A	not provided [RCV002158338]	likely benign	20	25302360	25302360	Human		name
402487661	CV3034107	single nucleotide variant	NM_001042472.3(ABHD12):c.1030-10C>T	not provided [RCV003713440]	likely benign	20	25302356	25302356	Human		name
11648724	CV344846	deletion	NM_001042472.3(ABHD12):c.-82_-76del	PHARC syndrome [RCV000282988]	uncertain significance	20	25390779	25390785	Human	1	name
150338964	CV1167751	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+327A>G	not provided [RCV001533938]	benign	20	25301892	25301892	Human		name
150339492	CV1167752	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+102G>A	not provided [RCV001534275]	likely benign	20	25302117	25302117	Human		name
150331522	CV1169858	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+214C>T	not provided [RCV001536509]	likely benign	20	25302005	25302005	Human		name
150423049	CV1181842	single nucleotide variant	NM_001042472.3(ABHD12):c.1030-266T>C	not provided [RCV001553482]	likely benign	20	25302612	25302612	Human		name
150413945	CV1192227	single nucleotide variant	NM_001042472.3(ABHD12):c.1030-175T>A	not provided [RCV001567358]	likely benign	20	25302521	25302521	Human		name
150412331	CV1192228	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+211G>C	not provided [RCV001566907]	likely benign	20	25303339	25303339	Human		name
150418349	CV1199204	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+183C>T	not provided [RCV001576705]	likely benign	20	25303367	25303367	Human		name
150444632	CV1216654	single nucleotide variant	NM_001042472.3(ABHD12):c.1158-213A>G	not provided [RCV001610954]	benign	20	25301097	25301097	Human		name
150512661	CV1228814	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+247A>G	not provided [RCV001637655]	benign	20	25301972	25301972	Human		name
150474263	CV1234420	single nucleotide variant	NM_001042472.3(ABHD12):c.1157+229A>C	not provided [RCV001651740]	benign	20	25301990	25301990	Human		name
150434289	CV1243914	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+188G>A	not provided [RCV001665121]	likely benign	20	25303362	25303362	Human		name
150439868	CV1266836	single nucleotide variant	NM_001042472.3(ABHD12):c.1158-314C>G	not provided [RCV001690271]	benign	20	25301198	25301198	Human		name
150490744	CV1267664	single nucleotide variant	NM_001042472.3(ABHD12):c.1029+196G>C	not provided [RCV001687688]	benign	20	25303354	25303354	Human		name
151891696	CV1368153	microsatellite	NM_001042472.3(ABHD12):c.1030-11TC[2]	not provided [RCV001888809]	uncertain significance	20	25302352	25302353	Human		name
11631590	CV350785	deletion	NM_001042472.3(ABHD12):c.320_321del	PHARC syndrome [RCV000382988]	likely benign	20	25300524	25300525	Human	1	name
127269395	CV1106903	deletion	NM_001042472.3(ABHD12):c.867+8_867+9del	not provided [RCV001441062]	likely benign	20	25307957	25307958	Human		name
152050478	CV1569052	single nucleotide variant	NM_001042472.3(ABHD12):c.9G>A (p.Lys3=)	not provided [RCV002207458]	likely benign	20	25390695	25390695	Human		name
597958648	CV3848482	single nucleotide variant	NM_001042472.3(ABHD12):c.6G>A (p.Arg2=)	not provided [RCV005192183]	likely benign	20	25390698	25390698	Human		name
14708578	CV670157	microsatellite	NM_001042472.3(ABHD12):c.951-9_951-6del	not provided [RCV000828314]	likely benign\|conflicting interpretations of pathogenicity	20	25303634	25303637	Human		name
152097775	CV1639732	single nucleotide variant	NM_001042472.3(ABHD12):c.12G>T (p.Arg4=)	not provided [RCV002078582]	likely benign	20	25390692	25390692	Human		name
152053923	CV1665343	single nucleotide variant	NM_001042472.3(ABHD12):c.27C>T (p.Ala9=)	not provided [RCV002089483]	likely benign	20	25390677	25390677	Human		name
153349152	CV1693811	single nucleotide variant	NM_001042472.3(ABHD12):c.18G>A (p.Glu6=)	not provided [RCV002275544]	likely benign	20	25390686	25390686	Human		name
10053399	CV196210	microsatellite	NM_001042472.3(ABHD12):c.788-10_788-7del	ABHD12-related disorder [RCV003955100]\|not provided [RCV000180549]\|not specified [RCV005237665]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25308052	25308055	Human		name , trait , alternate_id
156100466	CV2011563	single nucleotide variant	NM_001042472.3(ABHD12):c.15C>T (p.Thr5=)	not provided [RCV002695288]	likely benign	20	25390689	25390689	Human		name
150404754	CV1179009	deletion	NM_001042472.3(ABHD12):c.191+31_191+36del	PHARC syndrome [RCV001549197]\|not provided [RCV001713128]	benign	20	25390477	25390482	Human	1	name
150466364	CV1218177	single nucleotide variant	NM_015600.5(ABHD12):c.1207C>T (p.Leu403=)	not provided [RCV001614303]	benign	20	25294981	25294981	Human		name
150438103	CV1260509	single nucleotide variant	NM_015600.5(ABHD12):c.1203A>G (p.Ser401=)	not provided [RCV001681000]\|not specified [RCV001699594]	benign	20	25294985	25294985	Human	1	name
151235147	CV1318408	duplication	NM_001042472.3(ABHD12):c.191+34_191+35dup	not provided [RCV001794731]	likely benign	20	25390477	25390478	Human		name
151857858	CV1503346	single nucleotide variant	NM_001042472.3(ABHD12):c.57C>T (p.Gly19=)	not provided [RCV001979747]	likely benign\|uncertain significance	20	25390647	25390647	Human		name
152090258	CV1563246	single nucleotide variant	NM_001042472.3(ABHD12):c.63C>T (p.Ser21=)	not provided [RCV002113980]	likely benign	20	25390641	25390641	Human		name
152033575	CV1572908	duplication	NM_001042472.3(ABHD12):c.749+11_749+12dup	not provided [RCV002187115]	likely benign	20	25309433	25309434	Human		name
156374265	CV1902031	single nucleotide variant	NM_001042472.3(ABHD12):c.69C>T (p.Ser23=)	not provided [RCV003092726]	likely benign	20	25390635	25390635	Human		name
156315412	CV2027998	single nucleotide variant	NM_001042472.3(ABHD12):c.99C>T (p.Asp33=)	not provided [RCV002716770]	likely benign	20	25390605	25390605	Human		name
155956964	CV2087048	deletion	NM_001042472.3(ABHD12):c.750-23_750-19del	not provided [RCV002862659]	likely benign	20	25308513	25308517	Human		name
156218175	CV2087395	deletion	NM_001042472.3(ABHD12):c.317-13_317-12del	not provided [RCV002875759]	likely benign	20	25323442	25323443	Human		name
155944077	CV2111334	single nucleotide variant	NM_001042472.3(ABHD12):c.57C>A (p.Gly19=)	not provided [RCV002904662]	likely benign	20	25390647	25390647	Human		name
597959140	CV3848612	single nucleotide variant	NM_001042472.3(ABHD12):c.93C>T (p.Asp31=)	not provided [RCV005192313]	likely benign	20	25390611	25390611	Human		name
13834407	CV585653	single nucleotide variant	NM_001042472.3(ABHD12):c.66C>T (p.Ser22=)	not provided [RCV000729917]	conflicting interpretations of pathogenicity\|uncertain significance	20	25390638	25390638	Human		name
126760790	CV1014043	single nucleotide variant	NM_001042472.3(ABHD12):c.135G>A (p.Pro45=)	not provided [RCV001318442]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25390569	25390569	Human		name
126750353	CV1014044	single nucleotide variant	NM_001042472.3(ABHD12):c.129G>A (p.Thr43=)	not provided [RCV001315902]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25390575	25390575	Human		name
127257368	CV1106910	single nucleotide variant	NM_001042472.3(ABHD12):c.267C>T (p.Leu89=)	not provided [RCV001437892]	likely benign	20	25339276	25339276	Human		name
127310697	CV1158767	single nucleotide variant	NM_001042472.3(ABHD12):c.189C>G (p.Gly63=)	ABHD12-related disorder [RCV003940947]\|not provided [RCV001518370]	benign\|likely benign	20	25390515	25390515	Human	1	name , trait , alternate_id
151840269	CV1377429	single nucleotide variant	NM_001042472.3(ABHD12):c.19C>T (p.Pro7Ser)	not provided [RCV001936023]	uncertain significance	20	25390685	25390685	Human		name
151878286	CV1383436	single nucleotide variant	NM_001042472.3(ABHD12):c.132C>T (p.Gly44=)	not provided [RCV001907342]	likely benign\|uncertain significance	20	25390572	25390572	Human		name
151877247	CV1480853	single nucleotide variant	NM_001042472.3(ABHD12):c.16G>C (p.Glu6Gln)	not provided [RCV001982057]	uncertain significance	20	25390688	25390688	Human		name
151764110	CV1516890	single nucleotide variant	NM_001042472.3(ABHD12):c.22G>A (p.Val8Ile)	not provided [RCV002024711]	uncertain significance	20	25390682	25390682	Human		name
152061412	CV1540781	single nucleotide variant	NM_001042472.3(ABHD12):c.162C>G (p.Ala54=)	not provided [RCV002110159]	likely benign	20	25390542	25390542	Human		name
152127645	CV1572115	single nucleotide variant	NM_001042472.3(ABHD12):c.183G>T (p.Ala61=)	not provided [RCV002217628]	likely benign	20	25390521	25390521	Human		name
152150389	CV1598096	single nucleotide variant	NM_001042472.3(ABHD12):c.165C>T (p.Asp55=)	not provided [RCV002121658]	likely benign	20	25390539	25390539	Human		name
152163882	CV1604936	single nucleotide variant	NM_001042472.3(ABHD12):c.249C>T (p.Tyr83=)	not provided [RCV002203920]	likely benign	20	25339294	25339294	Human		name
152066577	CV1636547	single nucleotide variant	NM_001042472.3(ABHD12):c.184C>T (p.Leu62=)	not provided [RCV002110872]	likely benign	20	25390520	25390520	Human		name
152074839	CV1638298	single nucleotide variant	NM_001042472.3(ABHD12):c.129G>T (p.Thr43=)	not provided [RCV002192272]	likely benign	20	25390575	25390575	Human		name
156190618	CV1961702	single nucleotide variant	NM_001042472.3(ABHD12):c.276A>G (p.Leu92=)	not provided [RCV002574397]	likely benign	20	25339267	25339267	Human		name
156015810	CV1986342	single nucleotide variant	NM_001042472.3(ABHD12):c.204G>A (p.Val68=)	not provided [RCV002636459]	likely benign	20	25339339	25339339	Human		name
155928233	CV2391683	single nucleotide variant	NM_001042472.3(ABHD12):c.25G>A (p.Ala9Thr)	Inborn genetic diseases [RCV002773932]	uncertain significance	20	25390679	25390679	Human	1	name
402525005	CV2868256	single nucleotide variant	NM_001042472.3(ABHD12):c.141G>T (p.Ala47=)	not provided [RCV003547965]	likely benign	20	25390563	25390563	Human		name
402495588	CV2883786	single nucleotide variant	NM_001042472.3(ABHD12):c.171A>G (p.Gly57=)	not provided [RCV003573464]	likely benign	20	25390533	25390533	Human		name
402491319	CV2949121	duplication	NM_001042472.3(ABHD12):c.78dup (p.Ala27fs)	not provided [RCV003660575]	pathogenic	20	25390625	25390626	Human		name
597937610	CV3774722	single nucleotide variant	NM_001042472.3(ABHD12):c.117C>T (p.Asn39=)	not provided [RCV005117755]	likely benign	20	25390587	25390587	Human		name
8628478	CV83622	single nucleotide variant	NM_015600.4(ABHD12):c.326C>T (p.Pro109Leu)	Malignant melanoma [RCV000063703]	not provided	20	25323421	25323421	Human		name
28900408	CV885946	single nucleotide variant	NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val)	PHARC syndrome [RCV001142764]\|not provided [RCV001551242]	uncertain significance	20	25390678	25390678	Human	1	name
126766103	CV1014045	single nucleotide variant	NM_001042472.3(ABHD12):c.74C>T (p.Ser25Leu)	not provided [RCV001320307]	uncertain significance	20	25390630	25390630	Human		name
126760231	CV1034626	single nucleotide variant	NM_001042472.3(ABHD12):c.70G>A (p.Gly24Ser)	Inborn genetic diseases [RCV003169615]\|not provided [RCV001340353]	uncertain significance	20	25390634	25390634	Human	1	name
126916820	CV1051642	single nucleotide variant	NM_001042472.3(ABHD12):c.83C>G (p.Ala28Gly)	not provided [RCV001371728]	uncertain significance	20	25390621	25390621	Human		name
126918348	CV1051643	single nucleotide variant	NM_001042472.3(ABHD12):c.36T>G (p.His12Gln)	not provided [RCV001372606]	uncertain significance	20	25390668	25390668	Human		name
127230096	CV1085192	single nucleotide variant	NM_001042472.3(ABHD12):c.540C>T (p.Thr180=)	not provided [RCV001412345]	likely benign\|conflicting interpretations of pathogenicity	20	25320201	25320201	Human		name
127241744	CV1085193	single nucleotide variant	NM_001042472.3(ABHD12):c.375G>A (p.Thr125=)	not provided [RCV001398062]	likely benign	20	25323372	25323372	Human		name
127273714	CV1106902	single nucleotide variant	NM_001042472.3(ABHD12):c.879C>T (p.Tyr293=)	not provided [RCV001442650]	likely benign	20	25306904	25306904	Human		name
127235801	CV1106904	single nucleotide variant	NM_001042472.3(ABHD12):c.804C>T (p.Ala268=)	not provided [RCV001433189]	likely benign	20	25308029	25308029	Human		name
127249682	CV1106907	single nucleotide variant	NM_001042472.3(ABHD12):c.558C>T (p.Arg186=)	not provided [RCV001425189]	likely benign	20	25317063	25317063	Human		name
127256645	CV1106908	single nucleotide variant	NM_001042472.3(ABHD12):c.405C>T (p.Asp135=)	not provided [RCV001426853]	likely benign	20	25323342	25323342	Human		name
127302243	CV1128326	single nucleotide variant	NM_001042472.3(ABHD12):c.792G>A (p.Thr264=)	not provided [RCV001461576]	likely benign	20	25308041	25308041	Human		name
127315431	CV1128327	single nucleotide variant	NM_001042472.3(ABHD12):c.633A>G (p.Ser211=)	not provided [RCV001465209]	likely benign	20	25309562	25309562	Human		name
127298711	CV1128328	single nucleotide variant	NM_001042472.3(ABHD12):c.621T>C (p.Gly207=)	not provided [RCV001477972]	likely benign	20	25309574	25309574	Human		name
127325934	CV1149261	single nucleotide variant	NM_001042472.3(ABHD12):c.987C>T (p.His329=)	not provided [RCV001485917]	likely benign	20	25303592	25303592	Human		name
127288886	CV1149263	single nucleotide variant	NM_001042472.3(ABHD12):c.726C>T (p.Ile242=)	not provided [RCV001495449]	likely benign	20	25309469	25309469	Human		name
127329650	CV1149265	single nucleotide variant	NM_001042472.3(ABHD12):c.552C>T (p.Asp184=)	not provided [RCV001487572]	likely benign	20	25317069	25317069	Human		name
150415154	CV1178449	insertion	NM_001042472.3(ABHD12):c.191+36_191+37insGG	not provided [RCV001548448]	likely benign	20	25390476	25390477	Human		name
8658854	CV133704	single nucleotide variant	NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)	PHARC syndrome [RCV000609598]\|not provided [RCV001517392]\|not specified [RCV000116215]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	25307996	25307996	Human	1	name
151809362	CV1338703	single nucleotide variant	NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser)	Inborn genetic diseases [RCV002564341]\|PHARC syndrome [RCV002492094]\|Retinal dystrophy [RCV004816812]\|not provided [RCV002012284]	uncertain significance	20	25390610	25390610	Human	4	name
151777803	CV1342757	single nucleotide variant	NM_001042472.3(ABHD12):c.573G>A (p.Lys191=)	not provided [RCV001988851]	uncertain significance	20	25317048	25317048	Human		name
151814606	CV1349094	single nucleotide variant	NM_001042472.3(ABHD12):c.85G>A (p.Ala29Thr)	not provided [RCV001918956]	uncertain significance	20	25390619	25390619	Human		name
151749945	CV1377393	single nucleotide variant	NM_001042472.3(ABHD12):c.88C>G (p.Leu30Val)	not provided [RCV001948040]	uncertain significance	20	25390616	25390616	Human		name
151736941	CV1391593	single nucleotide variant	NM_001042472.3(ABHD12):c.53C>G (p.Ala18Gly)	not provided [RCV002041819]	uncertain significance	20	25390651	25390651	Human		name
151771955	CV1410971	single nucleotide variant	NM_001042472.3(ABHD12):c.47C>T (p.Ala16Val)	not provided [RCV001971270]	uncertain significance	20	25390657	25390657	Human		name
151751903	CV1459064	single nucleotide variant	NM_001042472.3(ABHD12):c.696A>G (p.Lys232=)	not provided [RCV002043369]	likely benign\|uncertain significance	20	25309499	25309499	Human		name
151714642	CV1469911	single nucleotide variant	NM_001042472.3(ABHD12):c.951C>T (p.Asn317=)	not provided [RCV001890077]	uncertain significance	20	25303628	25303628	Human		name
151815687	CV1475806	single nucleotide variant	NM_001042472.3(ABHD12):c.62C>T (p.Ser21Phe)	Retinal dystrophy [RCV004816896]\|not provided [RCV001992262]	uncertain significance	20	25390642	25390642	Human	2	name
151768828	CV1486401	single nucleotide variant	NM_001042472.3(ABHD12):c.65C>G (p.Ser22Cys)	Inborn genetic diseases [RCV005262569]\|not provided [RCV001914785]	uncertain significance	20	25390639	25390639	Human	1	name
151756535	CV1496961	single nucleotide variant	NM_001042472.3(ABHD12):c.750C>T (p.Gly250=)	not provided [RCV001913503]	uncertain significance	20	25308494	25308494	Human		name
151753220	CV1508643	single nucleotide variant	NM_001042472.3(ABHD12):c.65C>T (p.Ser22Phe)	not provided [RCV001986505]	uncertain significance	20	25390639	25390639	Human		name
152142423	CV1526668	single nucleotide variant	NM_001042472.3(ABHD12):c.531C>T (p.Asn177=)	not provided [RCV002084338]	likely benign	20	25320210	25320210	Human		name
152164259	CV1557540	single nucleotide variant	NM_001042472.3(ABHD12):c.579G>C (p.Leu193=)	not provided [RCV002141483]	likely benign	20	25314965	25314965	Human		name
152040293	CV1561592	single nucleotide variant	NM_001042472.3(ABHD12):c.678C>T (p.His226=)	not provided [RCV002188157]	likely benign	20	25309517	25309517	Human		name
152135930	CV1624675	single nucleotide variant	NM_001042472.3(ABHD12):c.333C>T (p.Phe111=)	not provided [RCV002177417]	likely benign	20	25323414	25323414	Human		name
152130432	CV1630964	single nucleotide variant	NM_001042472.3(ABHD12):c.408G>A (p.Val136=)	not provided [RCV002119017]	likely benign	20	25323339	25323339	Human		name
155803903	CV1858470	single nucleotide variant	NM_001042472.3(ABHD12):c.39G>C (p.Glu13Asp)	not provided [RCV002462780]	uncertain significance	20	25390665	25390665	Human		name
156270636	CV1970927	single nucleotide variant	NM_001042472.3(ABHD12):c.71G>A (p.Gly24Asp)	not provided [RCV002598078]	uncertain significance	20	25390633	25390633	Human		name
156057162	CV2089910	single nucleotide variant	NM_001042472.3(ABHD12):c.490T>C (p.Leu164=)	not provided [RCV002867980]	likely benign	20	25320251	25320251	Human		name
156162678	CV2136913	single nucleotide variant	NM_001042472.3(ABHD12):c.747T>C (p.Thr249=)	not provided [RCV003005126]	likely benign	20	25309448	25309448	Human		name
155944945	CV2139373	single nucleotide variant	NM_001042472.3(ABHD12):c.717C>T (p.Pro239=)	not provided [RCV002994287]	likely benign	20	25309478	25309478	Human		name
156020660	CV2142706	single nucleotide variant	NM_001042472.3(ABHD12):c.699A>C (p.Ala233=)	not provided [RCV002998657]	likely benign	20	25309496	25309496	Human		name
156224923	CV2144432	single nucleotide variant	NM_001042472.3(ABHD12):c.59C>T (p.Ser20Leu)	not provided [RCV003007524]	uncertain significance	20	25390645	25390645	Human		name
156185497	CV2169292	single nucleotide variant	NM_001042472.3(ABHD12):c.669C>T (p.Asp223=)	not provided [RCV003041487]	likely benign	20	25309526	25309526	Human		name
156194024	CV2175395	duplication	NM_001042472.3(ABHD12):c.126dup (p.Thr43fs)	not provided [RCV003057932]	pathogenic	20	25390577	25390578	Human		name
156139557	CV2177784	single nucleotide variant	NM_001042472.3(ABHD12):c.666T>C (p.Tyr222=)	not provided [RCV003039987]	likely benign	20	25309529	25309529	Human		name
156166591	CV2184758	single nucleotide variant	NM_001042472.3(ABHD12):c.82G>A (p.Ala28Thr)	not provided [RCV003057090]	uncertain significance	20	25390622	25390622	Human		name
156048681	CV2186615	single nucleotide variant	NM_001042472.3(ABHD12):c.774C>T (p.Arg258=)	not provided [RCV003036835]	likely benign	20	25308470	25308470	Human		name
156271623	CV2187440	single nucleotide variant	NM_001042472.3(ABHD12):c.912T>C (p.Pro304=)	not provided [RCV003044472]	likely benign	20	25306871	25306871	Human		name
156365632	CV2192211	single nucleotide variant	NM_001042472.3(ABHD12):c.76G>A (p.Ala26Thr)	not provided [RCV003065932]	uncertain significance	20	25390628	25390628	Human		name
156024068	CV2242089	single nucleotide variant	NM_001042472.3(ABHD12):c.74C>G (p.Ser25Trp)	Inborn genetic diseases [RCV002757555]	uncertain significance	20	25390630	25390630	Human	1	name
329350712	CV2476859	single nucleotide variant	NM_015600.5(ABHD12):c.1196T>C (p.Met399Thr)	not provided [RCV003223091]	uncertain significance	20	25294992	25294992	Human		name
405230630	CV2964327	single nucleotide variant	NM_001042472.3(ABHD12):c.648T>C (p.Ser216=)	not provided [RCV003682128]	likely benign	20	25309547	25309547	Human		name
402482196	CV3001251	single nucleotide variant	NM_001042472.3(ABHD12):c.471G>A (p.Gln157=)	not provided [RCV003686700]	likely benign	20	25320270	25320270	Human		name
402481151	CV3041561	single nucleotide variant	NM_001042472.3(ABHD12):c.978C>T (p.Leu326=)	not provided [RCV003712860]	likely benign	20	25303601	25303601	Human		name
405228033	CV3180243	single nucleotide variant	NM_001042472.3(ABHD12):c.318A>G (p.Val106=)	not provided [RCV003864663]	likely benign	20	25323429	25323429	Human		name
405292061	CV3207812	single nucleotide variant	NM_001042472.3(ABHD12):c.429C>T (p.Thr143=)	ABHD12-related disorder [RCV003929491]	likely benign	20	25320312	25320312	Human		name , trait , alternate_id
405294390	CV3214891	single nucleotide variant	NM_001042472.3(ABHD12):c.432C>G (p.Val144=)	ABHD12-related disorder [RCV003934291]	likely benign	20	25320309	25320309	Human		name , trait , alternate_id
405676022	CV3286865	single nucleotide variant	NM_001042472.3(ABHD12):c.70G>C (p.Gly24Arg)	Inborn genetic diseases [RCV004420673]	uncertain significance	20	25390634	25390634	Human	1	name
11613793	CV335067	single nucleotide variant	NM_001042472.3(ABHD12):c.453C>T (p.Asn151=)	ABHD12-related disorder [RCV003910312]\|PHARC syndrome [RCV000271406]\|not provided [RCV002057729]	likely benign\|uncertain significance	20	25320288	25320288	Human	1	name , trait , alternate_id
11628203	CV344839	single nucleotide variant	NM_001042472.3(ABHD12):c.858A>C (p.Pro286=)	PHARC syndrome [RCV000297381]\|not provided [RCV001411319]	likely benign\|uncertain significance	20	25307975	25307975	Human	1	name
407489199	CV3473708	single nucleotide variant	NM_001042472.3(ABHD12):c.29T>G (p.Leu10Trp)	Inborn genetic diseases [RCV004666007]	uncertain significance	20	25390675	25390675	Human	1	name
407490083	CV3483978	single nucleotide variant	NM_001042472.3(ABHD12):c.68C>G (p.Ser23Cys)	Inborn genetic diseases [RCV004666152]	uncertain significance	20	25390636	25390636	Human	1	name
597693013	CV3580733	single nucleotide variant	NM_001042472.3(ABHD12):c.35A>T (p.His12Leu)	Inborn genetic diseases [RCV004954422]	uncertain significance	20	25390669	25390669	Human	1	name
597692488	CV3583815	single nucleotide variant	NM_001042472.3(ABHD12):c.71G>T (p.Gly24Val)	Inborn genetic diseases [RCV004954349]	uncertain significance	20	25390633	25390633	Human	1	name
597863248	CV3745290	single nucleotide variant	NM_001042472.3(ABHD12):c.642G>A (p.Thr214=)	not provided [RCV005067646]	likely benign	20	25309553	25309553	Human		name
597940154	CV3788941	single nucleotide variant	NM_001042472.3(ABHD12):c.390G>T (p.Leu130=)	not provided [RCV005133404]	likely benign	20	25323357	25323357	Human		name
597955885	CV3796343	single nucleotide variant	NM_001042472.3(ABHD12):c.411C>T (p.Thr137=)	not provided [RCV005137161]	likely benign	20	25323336	25323336	Human		name
598226375	CV3894374	single nucleotide variant	NM_001042472.3(ABHD12):c.783G>A (p.Glu261=)	not provided [RCV005257617]	likely benign	20	25308461	25308461	Human		name
25318467	CV806068	deletion	NM_001042472.3(ABHD12):c.258del (p.Pro87fs)	not provided [RCV001008635]	pathogenic	20	25339285	25339285	Human		name
26904115	CV848258	single nucleotide variant	NM_001042472.3(ABHD12):c.315C>T (p.Phe105=)	PHARC syndrome [RCV001140918]\|not provided [RCV001052213]	uncertain significance	20	25339228	25339228	Human	1	name
28886787	CV885939	single nucleotide variant	NM_001042472.3(ABHD12):c.960C>T (p.His320=)	PHARC syndrome [RCV001137914]\|not provided [RCV001402813]	likely benign\|uncertain significance	20	25303619	25303619	Human	1	name
28893520	CV885941	single nucleotide variant	NM_001042472.3(ABHD12):c.792G>T (p.Thr264=)	PHARC syndrome [RCV001140160]\|not provided [RCV002559353]	likely benign\|uncertain significance	20	25308041	25308041	Human	1	name
38468530	CV938926	single nucleotide variant	NM_001042472.3(ABHD12):c.549C>T (p.Gly183=)	ABHD12-related disorder [RCV003938560]\|not provided [RCV001203866]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25317072	25317072	Human	1	name , trait , alternate_id
38464907	CV951018	single nucleotide variant	NM_001042472.3(ABHD12):c.741G>A (p.Leu247=)	not provided [RCV001237330]	likely benign\|uncertain significance	20	25309454	25309454	Human		name
126744379	CV1014042	single nucleotide variant	NM_001042472.3(ABHD12):c.296A>G (p.Lys99Arg)	not provided [RCV001325752]	uncertain significance	20	25339247	25339247	Human		name
126748563	CV1034624	single nucleotide variant	NM_001042472.3(ABHD12):c.272A>C (p.Lys91Thr)	not provided [RCV001337676]	uncertain significance	20	25339271	25339271	Human		name
126735984	CV1034625	single nucleotide variant	NM_001042472.3(ABHD12):c.268A>G (p.Ile90Val)	not provided [RCV001350164]	uncertain significance	20	25339275	25339275	Human		name
126916860	CV1051641	single nucleotide variant	NM_001042472.3(ABHD12):c.280C>G (p.Pro94Ala)	not provided [RCV001371749]	uncertain significance	20	25339263	25339263	Human		name
127265428	CV1085188	single nucleotide variant	NM_001042472.3(ABHD12):c.1047A>G (p.Ala349=)	not provided [RCV001403569]	likely benign	20	25302329	25302329	Human		name
127272884	CV1106901	single nucleotide variant	NM_001042472.3(ABHD12):c.1071C>T (p.Phe357=)	not provided [RCV001442357]	likely benign	20	25302305	25302305	Human		name
127329987	CV1149260	single nucleotide variant	NM_001042472.3(ABHD12):c.1143G>C (p.Leu381=)	not provided [RCV001487802]	likely benign	20	25302233	25302233	Human		name
127334168	CV1149267	single nucleotide variant	NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val)	ABHD12-related disorder [RCV003931007]\|not provided [RCV001490678]	likely benign\|conflicting interpretations of pathogenicity	20	25390586	25390586	Human	1	name , trait , alternate_id
150473902	CV1217709	single nucleotide variant	NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)	ABHD12-related disorder [RCV003405739]\|Inborn genetic diseases [RCV002538501]\|Optic atrophy [RCV004815581]\|not provided [RCV001615720]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25390601	25390601	Human	4	name , trait , alternate_id
8658853	CV133703	single nucleotide variant	NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)	PHARC syndrome [RCV000282089]\|not provided [RCV001512892]\|not specified [RCV000116214]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	25302308	25302308	Human	1	name
151883418	CV1337871	single nucleotide variant	NM_001042472.3(ABHD12):c.182C>A (p.Ala61Glu)	not provided [RCV001962124]	uncertain significance	20	25390522	25390522	Human		name
151712136	CV1396870	single nucleotide variant	NM_001042472.3(ABHD12):c.121C>T (p.Arg41Cys)	not provided [RCV001889606]	uncertain significance	20	25390583	25390583	Human		name
151791919	CV1399195	single nucleotide variant	NM_001042472.3(ABHD12):c.170G>A (p.Gly57Glu)	not provided [RCV001898262]	uncertain significance	20	25390534	25390534	Human		name
151746052	CV1401175	single nucleotide variant	NM_001042472.3(ABHD12):c.160G>T (p.Ala54Ser)	not provided [RCV002022830]	uncertain significance	20	25390544	25390544	Human		name
151772576	CV1402696	single nucleotide variant	NM_001042472.3(ABHD12):c.199G>T (p.Gly67Cys)	not provided [RCV001896486]	uncertain significance	20	25339344	25339344	Human		name
151772974	CV1417069	single nucleotide variant	NM_001042472.3(ABHD12):c.226C>G (p.Leu76Val)	not provided [RCV001971363]	uncertain significance	20	25339317	25339317	Human		name
151718051	CV1419570	single nucleotide variant	NM_001042472.3(ABHD12):c.1156A>C (p.Arg386=)	not provided [RCV001965526]	uncertain significance	20	25302220	25302220	Human		name
151744231	CV1432814	single nucleotide variant	NM_001042472.3(ABHD12):c.149C>A (p.Pro50Gln)	not provided [RCV001968460]	uncertain significance	20	25390555	25390555	Human		name
151745811	CV1433149	single nucleotide variant	NM_001042472.3(ABHD12):c.106C>G (p.Leu36Val)	not provided [RCV001968627]	uncertain significance	20	25390598	25390598	Human		name
151827325	CV1471972	single nucleotide variant	NM_001042472.3(ABHD12):c.275T>C (p.Leu92Pro)	not provided [RCV002030458]	uncertain significance	20	25339268	25339268	Human		name
151802172	CV1483845	single nucleotide variant	NM_001042472.3(ABHD12):c.211C>T (p.Arg71Cys)	not provided [RCV001899160]	uncertain significance	20	25339332	25339332	Human		name
151778348	CV1493313	single nucleotide variant	NM_001042472.3(ABHD12):c.157G>C (p.Ala53Pro)	not provided [RCV001915639]	uncertain significance	20	25390547	25390547	Human		name
151845134	CV1496593	single nucleotide variant	NM_001042472.3(ABHD12):c.293C>T (p.Ala98Val)	not provided [RCV001922013]	uncertain significance	20	25339250	25339250	Human		name
8555382	CV15064	indel	NM_015600.4(ABHD12):c.-6898_191+7002delinsCC	PHARC syndrome [RCV000000042]	pathogenic	20	25383511	25397601	Human		name
151724216	CV1514881	single nucleotide variant	NM_001042472.3(ABHD12):c.128C>T (p.Thr43Met)	not provided [RCV001983480]	uncertain significance	20	25390576	25390576	Human		name
151730239	CV1517764	single nucleotide variant	NM_001042472.3(ABHD12):c.149C>T (p.Pro50Leu)	not provided [RCV002052379]	uncertain significance	20	25390555	25390555	Human		name
152170621	CV1592512	single nucleotide variant	NM_001042472.3(ABHD12):c.1002G>A (p.Pro334=)	not provided [RCV002161834]	likely benign	20	25303577	25303577	Human		name
155644872	CV1710439	single nucleotide variant	NM_001042472.3(ABHD12):c.224T>A (p.Ile75Lys)	not provided [RCV002293735]	uncertain significance	20	25339319	25339319	Human		name
155746394	CV1771637	single nucleotide variant	NM_001042472.3(ABHD12):c.254C>A (p.Ala85Asp)	not provided [RCV002303418]	uncertain significance	20	25339289	25339289	Human		name
329846341	CV1784724	duplication	NM_001042472.3(ABHD12):c.601dup (p.Val201fs)	PHARC syndrome [RCV003228068]	pathogenic	20	25314942	25314943	Human	1	name
10049947	CV191179	single nucleotide variant	NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)	ABHD12-related disorder [RCV003937562]\|not provided [RCV000174273]\|not specified [RCV005237646]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25302263	25302263	Human	1	name , trait , alternate_id
156449957	CV1938522	single nucleotide variant	NM_001042472.3(ABHD12):c.158C>T (p.Ala53Val)	not provided [RCV003122089]	uncertain significance	20	25390546	25390546	Human		name
156251547	CV1984817	single nucleotide variant	NM_001042472.3(ABHD12):c.1083T>C (p.Phe361=)	not provided [RCV002645913]	likely benign	20	25302293	25302293	Human		name
156193151	CV2024234	duplication	NM_001042472.3(ABHD12):c.809dup (p.Leu271fs)	not provided [RCV002711156]	pathogenic	20	25308023	25308024	Human		name
155953880	CV2086829	single nucleotide variant	NM_001042472.3(ABHD12):c.1110C>T (p.Tyr370=)	not provided [RCV002862492]	likely benign	20	25302266	25302266	Human		name
156168415	CV2133472	single nucleotide variant	NM_001042472.3(ABHD12):c.275T>G (p.Leu92Arg)	not provided [RCV003005311]	uncertain significance	20	25339268	25339268	Human		name
156074699	CV2141659	single nucleotide variant	NM_001042472.3(ABHD12):c.1086G>A (p.Val362=)	not provided [RCV002979055]	likely benign	20	25302290	25302290	Human		name
156085128	CV2144856	single nucleotide variant	NM_001042472.3(ABHD12):c.230T>C (p.Phe77Ser)	not provided [RCV003020483]	uncertain significance	20	25339313	25339313	Human		name
156126345	CV2144894	single nucleotide variant	NM_001042472.3(ABHD12):c.191G>A (p.Arg64Lys)	not provided [RCV003003185]	uncertain significance	20	25390513	25390513	Human		name
155971046	CV2152587	single nucleotide variant	NM_001042472.3(ABHD12):c.1104T>C (p.Leu368=)	not provided [RCV003015937]	likely benign	20	25302272	25302272	Human		name
156181155	CV2298513	single nucleotide variant	NM_001042472.3(ABHD12):c.287T>C (p.Ile96Thr)	Inborn genetic diseases [RCV002891981]	uncertain significance	20	25339256	25339256	Human	1	name
243051996	CV2404250	single nucleotide variant	NM_001042472.3(ABHD12):c.194G>A (p.Arg65Gln)	not provided [RCV003129276]	uncertain significance	20	25339349	25339349	Human		name
243052047	CV2404268	duplication	NM_001042472.3(ABHD12):c.348dup (p.Pro117fs)	not provided [RCV003129294]	likely pathogenic	20	25323398	25323399	Human		name
329364090	CV2469724	single nucleotide variant	NM_001042472.3(ABHD12):c.181G>C (p.Ala61Pro)	Inborn genetic diseases [RCV003206593]	uncertain significance	20	25390523	25390523	Human	1	name
11582013	CV267423	single nucleotide variant	NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)	PHARC syndrome [RCV000394241]\|not provided [RCV000272244]	conflicting interpretations of pathogenicity\|uncertain significance	20	25302335	25302335	Human	1	name
11640283	CV271199	single nucleotide variant	NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=)	not provided [RCV001520720]\|not specified [RCV000336150]	benign\|likely benign	20	25302235	25302235	Human		name
405221671	CV3038605	duplication	NM_001042472.3(ABHD12):c.350dup (p.Gln118fs)	not provided [RCV003710066]	pathogenic	20	25323396	25323397	Human		name
405209814	CV3162670	single nucleotide variant	NM_001042472.3(ABHD12):c.1134C>T (p.Ser378=)	not provided [RCV003861969]	likely benign	20	25302242	25302242	Human		name
405675947	CV3286850	single nucleotide variant	NM_001042472.3(ABHD12):c.239T>C (p.Leu80Ser)	Inborn genetic diseases [RCV004420658]	uncertain significance	20	25339304	25339304	Human	1	name
11625035	CV335048	single nucleotide variant	NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=)	PHARC syndrome [RCV000394234]\|not provided [RCV001520577]	benign\|likely benign	20	25300866	25300866	Human	1	name
11619196	CV335074	insertion	NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC	PHARC syndrome [RCV000322802]\|not provided [RCV000835999]	benign	20	25390742	25390743	Human	1	name
11626679	CV344840	single nucleotide variant	NM_001042472.3(ABHD12):c.202G>A (p.Val68Met)	PHARC syndrome [RCV000625283]\|not provided [RCV000887285]\|not specified [RCV000615405]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25339341	25339341	Human	1	name
11630894	CV349782	single nucleotide variant	NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala)	PHARC syndrome [RCV000362453]\|Retinal dystrophy [RCV004816583]\|not provided [RCV000997762]	uncertain significance	20	25339340	25339340	Human	3	name
597692471	CV3587507	single nucleotide variant	NM_001042472.3(ABHD12):c.188G>A (p.Gly63Asp)	Inborn genetic diseases [RCV004954347]	uncertain significance	20	25390516	25390516	Human	1	name
597853703	CV3743537	single nucleotide variant	NM_001042472.3(ABHD12):c.1089C>G (p.Pro363=)	not provided [RCV005060887]	likely benign	20	25302287	25302287	Human		name
12847992	CV377976	single nucleotide variant	NM_001042472.3(ABHD12):c.212G>A (p.Arg71His)	not provided [RCV000444480]	uncertain significance	20	25339331	25339331	Human		name
597974208	CV3821153	single nucleotide variant	NM_001042472.3(ABHD12):c.1035T>C (p.Tyr345=)	not provided [RCV005168474]	likely benign	20	25302341	25302341	Human		name
616934177	CV4012097	single nucleotide variant	NM_001042472.3(ABHD12):c.128C>G (p.Thr43Arg)	not specified [RCV005409131]	uncertain significance	20	25390576	25390576	Human		name
13435015	CV431811	single nucleotide variant	NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter)	Retinal dystrophy [RCV000504760]	pathogenic	20	25339350	25339350	Human	2	name
13786182	CV509045	single nucleotide variant	NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter)	PHARC syndrome [RCV000677260]	pathogenic	20	25339294	25339294	Human	1	name
14708990	CV656624	single nucleotide variant	NM_001042472.3(ABHD12):c.1185G>A (p.Glu395=)	ABHD12-related disorder [RCV003928297]\|not provided [RCV000827313]	likely benign	20	25300857	25300857	Human	1	name , trait , alternate_id
15111119	CV728583	single nucleotide variant	NM_001042472.3(ABHD12):c.1092T>C (p.Phe364=)	not provided [RCV000894208]	likely benign	20	25302284	25302284	Human		name
21068141	CV797971	duplication	NM_001042472.3(ABHD12):c.341dup (p.Leu114fs)	not provided [RCV000997759]	pathogenic\|likely pathogenic	20	25323405	25323406	Human		name
26900088	CV848259	single nucleotide variant	NM_001042472.3(ABHD12):c.233G>A (p.Cys78Tyr)	not provided [RCV001038536]	uncertain significance	20	25339310	25339310	Human		name
26910145	CV856964	single nucleotide variant	NM_001042472.3(ABHD12):c.259C>A (p.Pro87Thr)	Retinal dystrophy [RCV001074495]\|not provided [RCV001862561]	uncertain significance	20	25339284	25339284	Human	2	name
28886783	CV885938	single nucleotide variant	NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=)	ABHD12-related disorder [RCV003898133]\|PHARC syndrome [RCV001137913]\|not provided [RCV002070617]	likely benign\|uncertain significance	20	25302332	25302332	Human	1	name , trait , alternate_id
28895552	CV885943	single nucleotide variant	NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val)	PHARC syndrome [RCV001140919]\|not provided [RCV001204105]	uncertain significance	20	25339293	25339293	Human	1	name
28895557	CV885944	single nucleotide variant	NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val)	PHARC syndrome [RCV001140921]\|not provided [RCV001882427]	uncertain significance	20	25390537	25390537	Human	1	name
28900406	CV885945	single nucleotide variant	NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly)	PHARC syndrome [RCV001142763]	uncertain significance	20	25390567	25390567	Human	1	name
126754159	CV998924	single nucleotide variant	NM_001042472.3(ABHD12):c.134C>G (p.Pro45Arg)	not provided [RCV001298061]	uncertain significance	20	25390570	25390570	Human		name
126768716	CV1014041	single nucleotide variant	NM_001042472.3(ABHD12):c.556C>T (p.Arg186Cys)	not provided [RCV001321525]	uncertain significance	20	25317065	25317065	Human		name
126734834	CV1021975	single nucleotide variant	NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln)	PHARC syndrome [RCV001334711]\|not provided [RCV002546695]	uncertain significance	20	25309542	25309542	Human	1	name
126767387	CV1034614	single nucleotide variant	NM_001042472.3(ABHD12):c.988G>A (p.Ala330Thr)	Inborn genetic diseases [RCV002546971]\|not provided [RCV001342804]	uncertain significance	20	25303591	25303591	Human	1	name
126748084	CV1034615	single nucleotide variant	NM_001042472.3(ABHD12):c.895T>C (p.Trp299Arg)	not provided [RCV001337587]	uncertain significance	20	25306888	25306888	Human		name
126768226	CV1034616	single nucleotide variant	NM_001042472.3(ABHD12):c.871T>C (p.Tyr291His)	not provided [RCV001343223]	uncertain significance	20	25306912	25306912	Human		name
126770653	CV1034617	single nucleotide variant	NM_001042472.3(ABHD12):c.766G>A (p.Val256Met)	not provided [RCV001344594]	uncertain significance	20	25308478	25308478	Human		name
126736840	CV1034618	single nucleotide variant	NM_001042472.3(ABHD12):c.758C>G (p.Thr253Arg)	not provided [RCV001350277]	uncertain significance	20	25308486	25308486	Human		name
126771151	CV1034619	single nucleotide variant	NM_001042472.3(ABHD12):c.656G>T (p.Gly219Val)	not provided [RCV001344877]	uncertain significance	20	25309539	25309539	Human		name
126770991	CV1034620	single nucleotide variant	NM_001042472.3(ABHD12):c.656G>A (p.Gly219Asp)	not provided [RCV001344784]	uncertain significance	20	25309539	25309539	Human		name
126768320	CV1034621	single nucleotide variant	NM_001042472.3(ABHD12):c.598G>A (p.Val200Met)	Inborn genetic diseases [RCV002546984]\|not provided [RCV001343290]	uncertain significance	20	25314946	25314946	Human	1	name
126763433	CV1034622	single nucleotide variant	NM_001042472.3(ABHD12):c.572A>G (p.Lys191Arg)	not provided [RCV001341273]	uncertain significance	20	25317049	25317049	Human		name
126749165	CV1034623	single nucleotide variant	NM_001042472.3(ABHD12):c.470A>C (p.Gln157Pro)	not provided [RCV001352001]	uncertain significance	20	25320271	25320271	Human		name
126920362	CV1051636	single nucleotide variant	NM_001042472.3(ABHD12):c.991G>A (p.Glu331Lys)	not provided [RCV001362831]	uncertain significance	20	25303588	25303588	Human		name
126922805	CV1051637	single nucleotide variant	NM_001042472.3(ABHD12):c.641C>T (p.Thr214Met)	not provided [RCV001365103]	uncertain significance	20	25309554	25309554	Human		name
126923532	CV1051638	single nucleotide variant	NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val)	PHARC syndrome [RCV003136035]\|not provided [RCV001365952]	uncertain significance	20	25309575	25309575	Human	1	name
126924118	CV1051639	single nucleotide variant	NM_001042472.3(ABHD12):c.532G>A (p.Ala178Thr)	not provided [RCV001366652]	uncertain significance	20	25320209	25320209	Human		name
126909235	CV1051640	single nucleotide variant	NM_001042472.3(ABHD12):c.451A>C (p.Asn151His)	not provided [RCV001368314]	uncertain significance	20	25320290	25320290	Human		name
126910704	CV1053394	single nucleotide variant	NM_001042472.3(ABHD12):c.838G>A (p.Glu280Lys)	Hearing impairment [RCV001375317]\|not provided [RCV005057342]	uncertain significance	20	25307995	25307995	Human	2	name
8647088	CV106724	single nucleotide variant	NM_001042472.3(ABHD12):c.935T>G (p.Phe312Cys)	not provided [RCV000087226]	uncertain significance	20	25306848	25306848	Human		name
150446955	CV1201806	single nucleotide variant	NM_001042472.3(ABHD12):c.430G>A (p.Val144Ile)	not provided [RCV001584674]	uncertain significance	20	25320311	25320311	Human		name
150435674	CV1221709	deletion	NM_001042472.3(ABHD12):c.1029+284_1029+285del	not provided [RCV001609398]	benign	20	25303265	25303266	Human		name
151870973	CV1340426	single nucleotide variant	NM_001042472.3(ABHD12):c.454G>A (p.Ala152Thr)	Inborn genetic diseases [RCV004042840]\|not provided [RCV001939795]	uncertain significance	20	25320287	25320287	Human	1	name
151887494	CV1341403	single nucleotide variant	NM_001042472.3(ABHD12):c.826A>G (p.Thr276Ala)	not provided [RCV001887772]	uncertain significance	20	25308007	25308007	Human		name
151799969	CV1343900	single nucleotide variant	NM_001042472.3(ABHD12):c.374C>T (p.Thr125Met)	not provided [RCV002027996]	uncertain significance	20	25323373	25323373	Human		name
151810651	CV1345167	single nucleotide variant	NM_001042472.3(ABHD12):c.827C>T (p.Thr276Ile)	not provided [RCV001878236]	uncertain significance	20	25308006	25308006	Human		name
151794289	CV1348185	single nucleotide variant	NM_001042472.3(ABHD12):c.729G>A (p.Trp243Ter)	not provided [RCV001876798]	pathogenic	20	25309466	25309466	Human		name
151828790	CV1348332	single nucleotide variant	NM_001042472.3(ABHD12):c.367A>T (p.Asn123Tyr)	not provided [RCV001870328]	uncertain significance	20	25323380	25323380	Human		name
151736383	CV1351408	single nucleotide variant	NM_001042472.3(ABHD12):c.335T>C (p.Ile112Thr)	not provided [RCV002021859]	uncertain significance	20	25323412	25323412	Human		name
151841627	CV1362868	single nucleotide variant	NM_001042472.3(ABHD12):c.548G>A (p.Gly183Asp)	not provided [RCV002015406]	uncertain significance	20	25317073	25317073	Human		name
151831929	CV1370092	single nucleotide variant	NM_001042472.3(ABHD12):c.550G>A (p.Asp184Asn)	not provided [RCV001993789]	uncertain significance	20	25317071	25317071	Human		name
151787020	CV1393468	single nucleotide variant	NM_001042472.3(ABHD12):c.423G>A (p.Trp141Ter)	not provided [RCV001972653]	pathogenic	20	25320318	25320318	Human		name
151877202	CV1395426	single nucleotide variant	NM_001042472.3(ABHD12):c.917C>T (p.Thr306Ile)	not provided [RCV002019681]	uncertain significance	20	25306866	25306866	Human		name
151785807	CV1397250	single nucleotide variant	NM_001042472.3(ABHD12):c.349C>A (p.Pro117Thr)	not provided [RCV001930886]	uncertain significance	20	25323398	25323398	Human		name
151859587	CV1398470	single nucleotide variant	NM_001042472.3(ABHD12):c.772C>T (p.Arg258Cys)	Inborn genetic diseases [RCV005264160]\|not provided [RCV002017592]	uncertain significance	20	25308472	25308472	Human	1	name
151879244	CV1412651	single nucleotide variant	NM_001042472.3(ABHD12):c.830A>G (p.Asn277Ser)	not provided [RCV001926216]	uncertain significance	20	25308003	25308003	Human		name
151795979	CV1421432	single nucleotide variant	NM_001042472.3(ABHD12):c.595C>T (p.His199Tyr)	not provided [RCV001917264]	uncertain significance	20	25314949	25314949	Human		name
151755676	CV1434018	single nucleotide variant	NM_001042472.3(ABHD12):c.788A>G (p.Glu263Gly)	not provided [RCV002043728]	uncertain significance	20	25308045	25308045	Human		name
151874443	CV1475777	single nucleotide variant	NM_001042472.3(ABHD12):c.733C>T (p.His245Tyr)	not provided [RCV002019362]	uncertain significance	20	25309462	25309462	Human		name
151884175	CV1476839	single nucleotide variant	NM_001042472.3(ABHD12):c.473T>C (p.Met158Thr)	not provided [RCV001887094]	uncertain significance	20	25320268	25320268	Human		name
151799338	CV1497688	single nucleotide variant	NM_001042472.3(ABHD12):c.784C>T (p.Arg262Ter)	not provided [RCV001952773]	pathogenic	20	25308460	25308460	Human		name
151799591	CV1509371	single nucleotide variant	NM_001042472.3(ABHD12):c.316G>A (p.Val106Ile)	not provided [RCV001867007]	uncertain significance	20	25339227	25339227	Human		name
151733174	CV1509865	single nucleotide variant	NM_001042472.3(ABHD12):c.536G>C (p.Gly179Ala)	not provided [RCV001892471]	uncertain significance	20	25320205	25320205	Human		name
9480397	CV152959	single nucleotide variant	NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)	PHARC syndrome [RCV000132768]	pathogenic	20	25320264	25320264	Human	1	name
9480375	CV152960	single nucleotide variant	NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)	Cone dystrophy [RCV000678518]\|PHARC syndrome [RCV000132769]	pathogenic\|uncertain significance	20	25317064	25317064	Human	3	name
152979532	CV1676568	single nucleotide variant	NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg)	PHARC syndrome [RCV002246162]	uncertain significance	20	25317077	25317077	Human	1	name
153001210	CV1679939	single nucleotide variant	NM_001042472.3(ABHD12):c.745A>G (p.Thr249Ala)	ABHD12-related disorder [RCV004756389]\|Inborn genetic diseases [RCV003094093]\|not provided [RCV002251618]	uncertain significance	20	25309450	25309450	Human	2	name , trait , alternate_id
155717547	CV1775451	single nucleotide variant	NM_001042472.3(ABHD12):c.333C>A (p.Phe111Leu)	not provided [RCV002301133]	uncertain significance	20	25323414	25323414	Human		name
156419634	CV1973867	single nucleotide variant	NM_001042472.3(ABHD12):c.707G>T (p.Gly236Val)	not provided [RCV002612873]	uncertain significance	20	25309488	25309488	Human		name
155915957	CV1980863	single nucleotide variant	NM_001042472.3(ABHD12):c.947A>G (p.Glu316Gly)	ABHD12-related disorder [RCV004756411]\|not provided [RCV002614314]	uncertain significance	20	25306836	25306836	Human	1	name , trait , alternate_id
156349697	CV1989366	single nucleotide variant	NM_001042472.3(ABHD12):c.301A>G (p.Ile101Val)	not provided [RCV002631891]	uncertain significance	20	25339242	25339242	Human		name
156387475	CV1995907	single nucleotide variant	NM_001042472.3(ABHD12):c.825C>G (p.Phe275Leu)	not provided [RCV002654095]	uncertain significance	20	25308008	25308008	Human		name
155910490	CV2017632	single nucleotide variant	NM_001042472.3(ABHD12):c.415G>A (p.Gly139Arg)	not provided [RCV002681680]	uncertain significance	20	25323332	25323332	Human		name
156272121	CV2027020	single nucleotide variant	NM_001042472.3(ABHD12):c.933A>C (p.Lys311Asn)	not provided [RCV002746676]	uncertain significance	20	25306850	25306850	Human		name
156173688	CV2037961	single nucleotide variant	NM_001042472.3(ABHD12):c.917C>G (p.Thr306Arg)	not provided [RCV002741937]	uncertain significance	20	25306866	25306866	Human		name
156272385	CV2046177	single nucleotide variant	NM_001042472.3(ABHD12):c.468C>G (p.Asp156Glu)	not provided [RCV002770088]	uncertain significance	20	25320273	25320273	Human		name
156030538	CV2125458	single nucleotide variant	NM_001042472.3(ABHD12):c.979A>G (p.Ile327Val)	not provided [RCV002949206]	uncertain significance	20	25303600	25303600	Human		name
156097969	CV2152838	single nucleotide variant	NM_001042472.3(ABHD12):c.547G>A (p.Gly183Ser)	not provided [RCV003020940]	uncertain significance	20	25317074	25317074	Human		name
156250824	CV2157524	single nucleotide variant	NM_001042472.3(ABHD12):c.653G>C (p.Arg218Pro)	Inborn genetic diseases [RCV004960904]\|not provided [RCV003008436]	uncertain significance	20	25309542	25309542	Human	1	name
156228062	CV2164826	single nucleotide variant	NM_001042472.3(ABHD12):c.894C>G (p.Asp298Glu)	not provided [RCV003042978]	uncertain significance	20	25306889	25306889	Human		name
156078251	CV2170957	single nucleotide variant	NM_001042472.3(ABHD12):c.687C>G (p.Asp229Glu)	not provided [RCV003020261]	uncertain significance	20	25309508	25309508	Human		name
156338594	CV2188253	single nucleotide variant	NM_001042472.3(ABHD12):c.770G>A (p.Arg257Gln)	not provided [RCV003064107]	uncertain significance	20	25308474	25308474	Human		name
329352215	CV2452248	single nucleotide variant	NM_001042472.3(ABHD12):c.365T>G (p.Leu122Trp)	Inborn genetic diseases [RCV003200377]	uncertain significance	20	25323382	25323382	Human	1	name
11558272	CV260803	single nucleotide variant	NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)	PHARC syndrome [RCV000256396]	likely pathogenic	20	25303608	25303608	Human	1	name
405172558	CV2854401	single nucleotide variant	NM_001042472.3(ABHD12):c.671C>G (p.Ala224Gly)	not provided [RCV003542152]	uncertain significance	20	25309524	25309524	Human		name
405171608	CV2864331	single nucleotide variant	NM_001042472.3(ABHD12):c.775C>T (p.Leu259Phe)	not provided [RCV003542210]	uncertain significance	20	25308469	25308469	Human		name
405117390	CV2992988	single nucleotide variant	NM_001042472.3(ABHD12):c.976C>T (p.Leu326Phe)	not provided [RCV003723508]	uncertain significance	20	25303603	25303603	Human		name
11618223	CV335051	single nucleotide variant	NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)	ABHD12-related disorder [RCV003910311]\|PHARC syndrome [RCV000311548]\|Retinal dystrophy [RCV004816582]\|not provided [RCV000762340]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25308475	25308475	Human	3	name , trait , alternate_id
596942010	CV3408396	single nucleotide variant	NM_001042472.3(ABHD12):c.625G>C (p.Gly209Arg)	Retinal dystrophy [RCV004816067]	uncertain significance	20	25309570	25309570	Human	2	name
407492297	CV3473406	single nucleotide variant	NM_001042472.3(ABHD12):c.670G>A (p.Ala224Thr)	Inborn genetic diseases [RCV004667079]	uncertain significance	20	25309525	25309525	Human	1	name
407489578	CV3473806	single nucleotide variant	NM_001042472.3(ABHD12):c.883C>G (p.Pro295Ala)	Inborn genetic diseases [RCV004666084]	uncertain significance	20	25306900	25306900	Human	1	name
407574010	CV3498359	duplication	NM_001042472.3(ABHD12):c.1170dup (p.Lys391fs)	not specified [RCV004702834]	uncertain significance	20	25300871	25300872	Human		name
11632131	CV350792	single nucleotide variant	NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser)	PHARC syndrome [RCV000399246]\|not provided [RCV001458236]	likely benign\|uncertain significance	20	25308031	25308031	Human	1	name
11629559	CV350793	single nucleotide variant	NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe)	PHARC syndrome [RCV000326437]\|not provided [RCV001070173]	uncertain significance	20	25323413	25323413	Human	1	name
596946746	CV3548576	single nucleotide variant	NM_001042472.3(ABHD12):c.605C>T (p.Thr202Ile)	not provided [RCV004810403]	pathogenic	20	25314939	25314939	Human		name
597692577	CV3583903	single nucleotide variant	NM_001042472.3(ABHD12):c.593A>G (p.Tyr198Cys)	Inborn genetic diseases [RCV004954362]	uncertain significance	20	25314951	25314951	Human	1	name
597692860	CV3583997	single nucleotide variant	NM_001042472.3(ABHD12):c.410C>G (p.Thr137Ser)	Inborn genetic diseases [RCV004954402]	uncertain significance	20	25323337	25323337	Human	1	name
597692958	CV3584093	single nucleotide variant	NM_001042472.3(ABHD12):c.923G>A (p.Ser308Asn)	Inborn genetic diseases [RCV004954415]	uncertain significance	20	25306860	25306860	Human	1	name
597657210	CV3731654	single nucleotide variant	NM_001042472.3(ABHD12):c.385T>C (p.Tyr129His)	not provided [RCV005001835]	uncertain significance	20	25323362	25323362	Human		name
597721013	CV3733623	single nucleotide variant	NM_001042472.3(ABHD12):c.690G>A (p.Trp230Ter)	PHARC syndrome [RCV005052928]	pathogenic	20	25309505	25309505	Human	1	name
12833425	CV377969	single nucleotide variant	NM_001042472.3(ABHD12):c.836G>A (p.Arg279His)	PHARC syndrome [RCV001140159]\|not provided [RCV000418476]	uncertain significance	20	25307997	25307997	Human	1	name
598169970	CV3907687	single nucleotide variant	NM_001042472.3(ABHD12):c.919A>C (p.Ser307Arg)	Inborn genetic diseases [RCV005262955]	uncertain significance	20	25306864	25306864	Human	1	name
598170253	CV3907786	single nucleotide variant	NM_001042472.3(ABHD12):c.506C>G (p.Pro169Arg)	Inborn genetic diseases [RCV005263051]	uncertain significance	20	25320235	25320235	Human	1	name
598178197	CV3907885	single nucleotide variant	NM_001042472.3(ABHD12):c.419T>C (p.Val140Ala)	Inborn genetic diseases [RCV005264628]	uncertain significance	20	25323328	25323328	Human	1	name
13490014	CV446212	single nucleotide variant	NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)	PHARC syndrome [RCV000656405]\|not provided [RCV000524077]	pathogenic\|likely pathogenic	20	25306909	25306909	Human	1	name
13482823	CV446213	single nucleotide variant	NM_001042472.3(ABHD12):c.527G>A (p.Gly176Glu)	not provided [RCV000521889]	uncertain significance	20	25320214	25320214	Human		name
13521006	CV495874	duplication	NM_001042472.3(ABHD12):c.1092dup (p.His365fs)	not provided [RCV000599096]	uncertain significance	20	25302283	25302284	Human		name
13795121	CV551590	single nucleotide variant	NM_001042472.3(ABHD12):c.447G>A (p.Trp149Ter)	Cone dystrophy [RCV000678517]	pathogenic	20	25320294	25320294	Human	2	name
13834877	CV586127	single nucleotide variant	NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu)	not provided [RCV000730501]	conflicting interpretations of pathogenicity\|uncertain significance	20	25323342	25323342	Human		name
21068138	CV797969	single nucleotide variant	NM_001042472.3(ABHD12):c.835C>T (p.Arg279Cys)	Inborn genetic diseases [RCV003160143]\|not provided [RCV000997757]	uncertain significance	20	25307998	25307998	Human	1	name
21068139	CV797970	single nucleotide variant	NM_001042472.3(ABHD12):c.783G>T (p.Glu261Asp)	Inborn genetic diseases [RCV002549980]\|not provided [RCV000997758]	uncertain significance	20	25308461	25308461	Human	1	name
21068142	CV797972	single nucleotide variant	NM_001042472.3(ABHD12):c.338A>T (p.Asp113Val)	not provided [RCV000997760]	uncertain significance	20	25323409	25323409	Human		name
21068143	CV797973	single nucleotide variant	NM_001042472.3(ABHD12):c.337G>T (p.Asp113Tyr)	not provided [RCV000997761]	uncertain significance	20	25323410	25323410	Human		name
25319713	CV806067	deletion	NM_001042472.3(ABHD12):c.1075del (p.Val359fs)	See cases [RCV004797890]\|not provided [RCV001009046]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	25302301	25302301	Human		name
26904684	CV848252	single nucleotide variant	NM_001042472.3(ABHD12):c.970C>T (p.Pro324Ser)	not provided [RCV001055281]	uncertain significance	20	25303609	25303609	Human		name
26900278	CV848253	single nucleotide variant	NM_001042472.3(ABHD12):c.929T>C (p.Ile310Thr)	not provided [RCV001039025]	uncertain significance	20	25306854	25306854	Human		name
26906910	CV848254	single nucleotide variant	NM_001042472.3(ABHD12):c.751G>A (p.Val251Met)	not provided [RCV001065991]	uncertain significance	20	25308493	25308493	Human		name
26906329	CV848255	single nucleotide variant	NM_001042472.3(ABHD12):c.709G>A (p.Asp237Asn)	not provided [RCV001062723]	uncertain significance	20	25309486	25309486	Human		name
26899567	CV848256	single nucleotide variant	NM_001042472.3(ABHD12):c.665A>G (p.Tyr222Cys)	not provided [RCV001036579]	uncertain significance	20	25309530	25309530	Human		name
26904298	CV848257	single nucleotide variant	NM_001042472.3(ABHD12):c.571A>G (p.Lys191Glu)	not provided [RCV001053292]	uncertain significance	20	25317050	25317050	Human		name
26909794	CV856961	duplication	NM_001042472.3(ABHD12):c.1036dup (p.Ser346fs)	Retinal dystrophy [RCV001073985]	likely pathogenic	20	25302339	25302340	Human	2	name
26909971	CV856962	single nucleotide variant	NM_001042472.3(ABHD12):c.755C>T (p.Ala252Val)	Retinal dystrophy [RCV001074217]	likely pathogenic	20	25308489	25308489	Human	2	name
26909974	CV856963	single nucleotide variant	NM_001042472.3(ABHD12):c.400G>T (p.Glu134Ter)	Retinal dystrophy [RCV001074221]	likely pathogenic	20	25323347	25323347	Human	2	name
28886791	CV885940	single nucleotide variant	NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln)	PHARC syndrome [RCV001137915]\|not provided [RCV001760097]	uncertain significance	20	25306908	25306908	Human	1	name
28893523	CV885942	single nucleotide variant	NM_001042472.3(ABHD12):c.718G>A (p.Val240Met)	PHARC syndrome [RCV001140161]\|not provided [RCV001456141]	likely benign\|uncertain significance	20	25309477	25309477	Human	1	name
38471380	CV938923	single nucleotide variant	NM_001042472.3(ABHD12):c.870A>G (p.Ile290Met)	Inborn genetic diseases [RCV002562367]\|not provided [RCV001210877]	uncertain significance	20	25306913	25306913	Human	1	name
38468130	CV938924	single nucleotide variant	NM_001042472.3(ABHD12):c.619G>A (p.Gly207Ser)	not provided [RCV001203058]	uncertain significance	20	25314925	25314925	Human		name
38467896	CV938925	single nucleotide variant	NM_001042472.3(ABHD12):c.559G>A (p.Val187Met)	not provided [RCV001202466]	uncertain significance	20	25317062	25317062	Human		name
38461352	CV951017	single nucleotide variant	NM_001042472.3(ABHD12):c.952G>A (p.Val318Met)	Inborn genetic diseases [RCV002563741]\|not provided [RCV001230634]	uncertain significance	20	25303627	25303627	Human	1	name
38464632	CV951019	single nucleotide variant	NM_001042472.3(ABHD12):c.710A>G (p.Asp237Gly)	not provided [RCV001236771]	uncertain significance	20	25309485	25309485	Human		name
38463040	CV951020	single nucleotide variant	NM_001042472.3(ABHD12):c.607T>A (p.Phe203Ile)	not provided [RCV001233626]	uncertain significance	20	25314937	25314937	Human		name
38460198	CV951021	single nucleotide variant	NM_001042472.3(ABHD12):c.406G>A (p.Val136Met)	not provided [RCV001227287]	uncertain significance	20	25323341	25323341	Human		name
38466631	CV958797	single nucleotide variant	NM_001042472.3(ABHD12):c.970C>G (p.Pro324Ala)	not provided [RCV001240647]	uncertain significance	20	25303609	25303609	Human		name
38466366	CV958798	single nucleotide variant	NM_001042472.3(ABHD12):c.806T>C (p.Leu269Pro)	not provided [RCV001240055]	uncertain significance	20	25308027	25308027	Human		name
38468455	CV958799	single nucleotide variant	NM_001042472.3(ABHD12):c.413T>C (p.Ile138Thr)	not provided [RCV001245289]	uncertain significance	20	25323334	25323334	Human		name
126740258	CV998920	single nucleotide variant	NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg)	PHARC syndrome [RCV003135921]\|not provided [RCV001295734]	uncertain significance	20	25303612	25303612	Human	1	name
126760873	CV998921	single nucleotide variant	NM_001042472.3(ABHD12):c.844G>A (p.Ala282Thr)	not provided [RCV001299924]	uncertain significance	20	25307989	25307989	Human		name
126747074	CV998922	single nucleotide variant	NM_001042472.3(ABHD12):c.551A>T (p.Asp184Val)	not provided [RCV001306191]	uncertain significance	20	25317070	25317070	Human		name
126753235	CV998923	single nucleotide variant	NM_001042472.3(ABHD12):c.403G>A (p.Asp135Asn)	not provided [RCV001297867]	uncertain significance	20	25323344	25323344	Human		name
126756785	CV1034627	microsatellite	NM_001042472.3(ABHD12):c.61TCC[2] (p.Ser23del)	not provided [RCV001339378]	uncertain significance	20	25390635	25390637	Human		name
126921281	CV1051634	single nucleotide variant	NM_001042472.3(ABHD12):c.1157G>A (p.Arg386Lys)	not provided [RCV001374299]	uncertain significance	20	25302219	25302219	Human		name
126916439	CV1051635	single nucleotide variant	NM_001042472.3(ABHD12):c.1055G>A (p.Arg352Gln)	not provided [RCV001371509]	uncertain significance	20	25302321	25302321	Human		name
150404641	CV1179007	insertion	NM_001042472.3(ABHD12):c.1029+247_1029+248insC	PHARC syndrome [RCV001549026]\|not provided [RCV001655877]	benign	20	25303302	25303303	Human	1	name
150545971	CV1291309	single nucleotide variant	NM_001042472.3(ABHD12):c.1042G>A (p.Ala348Thr)	not provided [RCV001732737]	uncertain significance	20	25302334	25302334	Human		name
150541914	CV1312907	single nucleotide variant	NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)	PHARC syndrome [RCV001782038]	pathogenic	20	25303564	25303564	Human	1	name
151234687	CV1320414	single nucleotide variant	NM_001042472.3(ABHD12):c.1175C>T (p.Ser392Leu)	Inborn genetic diseases [RCV002544372]\|not provided [RCV001800038]	uncertain significance	20	25300867	25300867	Human	1	name
8658852	CV133702	single nucleotide variant	NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)	PHARC syndrome [RCV000337167]\|not provided [RCV000991475]\|not specified [RCV000116213]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	25302331	25302331	Human	1	name
151840974	CV1361197	single nucleotide variant	NM_001042472.3(ABHD12):c.1022G>A (p.Gly341Asp)	not provided [RCV001881348]	uncertain significance	20	25303557	25303557	Human		name
151730914	CV1421233	single nucleotide variant	NM_001042472.3(ABHD12):c.1122C>A (p.Tyr374Ter)	not provided [RCV001892241]	pathogenic\|uncertain significance	20	25302254	25302254	Human		name
151825759	CV1429592	single nucleotide variant	NM_001042472.3(ABHD12):c.1063C>T (p.Arg355Ter)	not provided [RCV001993217]	pathogenic	20	25302313	25302313	Human		name
151841093	CV1463058	single nucleotide variant	NM_001042472.3(ABHD12):c.1138G>T (p.Glu380Ter)	not provided [RCV002031827]	uncertain significance	20	25302238	25302238	Human		name
151850994	CV1465055	single nucleotide variant	NM_001042472.3(ABHD12):c.1183G>A (p.Glu395Lys)	not provided [RCV001995960]	uncertain significance	20	25300859	25300859	Human		name
151747238	CV1485318	single nucleotide variant	NM_001042472.3(ABHD12):c.1001C>T (p.Pro334Leu)	not provided [RCV002006452]	uncertain significance	20	25303578	25303578	Human		name
151892610	CV1493750	single nucleotide variant	NM_001042472.3(ABHD12):c.1091T>G (p.Phe364Cys)	Inborn genetic diseases [RCV003264296]\|not provided [RCV001944294]	uncertain significance	20	25302285	25302285	Human	1	name
151838237	CV1501346	single nucleotide variant	NM_001042472.3(ABHD12):c.1014C>A (p.Phe338Leu)	not provided [RCV001977382]	uncertain significance	20	25303565	25303565	Human		name
151888363	CV1502143	single nucleotide variant	NM_001042472.3(ABHD12):c.1144C>T (p.Pro382Ser)	not provided [RCV001942573]	uncertain significance	20	25302232	25302232	Human		name
8594836	CV15066	single nucleotide variant	NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)	PHARC syndrome [RCV000000044]\|not provided [RCV001208516]	pathogenic	20	25302322	25302322	Human	1	name
9480374	CV152958	single nucleotide variant	NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	PHARC syndrome [RCV000132767]	pathogenic	20	25302260	25302260	Human	1	name
152036684	CV1609883	single nucleotide variant	NM_001042472.3(ABHD12):c.1000C>A (p.Pro334Thr)	not provided [RCV002165062]	likely benign	20	25303579	25303579	Human		name
10045005	CV188962	single nucleotide variant	NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter)	PHARC syndrome [RCV001331521]\|not provided [RCV000171343]\|not specified [RCV005237636]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	25300853	25300853	Human	1	name
156061449	CV1892397	single nucleotide variant	NM_001042472.3(ABHD12):c.1192C>T (p.His398Tyr)	not provided [RCV003079239]	uncertain significance	20	25300850	25300850	Human		name
156354090	CV1974894	single nucleotide variant	NM_001042472.3(ABHD12):c.1099G>T (p.Asp367Tyr)	not provided [RCV002602036]	uncertain significance	20	25302277	25302277	Human		name
155910982	CV2141618	single nucleotide variant	NM_001042472.3(ABHD12):c.1159G>A (p.Glu387Lys)	not provided [RCV002968049]	uncertain significance	20	25300883	25300883	Human		name
405132247	CV2905527	single nucleotide variant	NM_001042472.3(ABHD12):c.1129A>T (p.Lys377Ter)	not provided [RCV003560138]	likely pathogenic	20	25302247	25302247	Human		name
597914013	CV3778791	single nucleotide variant	NM_001042472.3(ABHD12):c.1078C>T (p.Gln360Ter)	not provided [RCV005129136]	pathogenic	20	25302298	25302298	Human		name
598123408	CV3884893	single nucleotide variant	NM_001042472.3(ABHD12):c.1030C>A (p.Leu344Ile)	not specified [RCV005238502]	uncertain significance	20	25302346	25302346	Human		name
13518875	CV490919	single nucleotide variant	NM_001042472.3(ABHD12):c.1064G>A (p.Arg355Gln)	not provided [RCV000597660]	uncertain significance	20	25302312	25302312	Human		name
26907822	CV848249	single nucleotide variant	NM_001042472.3(ABHD12):c.1145C>T (p.Pro382Leu)	Inborn genetic diseases [RCV002554630]\|not provided [RCV001071701]	uncertain significance	20	25302231	25302231	Human	1	name
26907459	CV848250	single nucleotide variant	NM_001042472.3(ABHD12):c.1131G>C (p.Lys377Asn)	not provided [RCV001069368]	uncertain significance	20	25302245	25302245	Human		name
26899643	CV848251	single nucleotide variant	NM_001042472.3(ABHD12):c.1114C>T (p.His372Tyr)	not provided [RCV001036897]	uncertain significance	20	25302262	25302262	Human		name
38469765	CV938922	single nucleotide variant	NM_001042472.3(ABHD12):c.1006G>A (p.Val336Met)	not provided [RCV001206382]	uncertain significance	20	25303573	25303573	Human		name
38464914	CV951012	single nucleotide variant	NM_001042472.3(ABHD12):c.1195T>C (p.Ter399Arg)	not provided [RCV001237334]	uncertain significance	20	25300847	25300847	Human		name
38459791	CV951013	single nucleotide variant	NM_001042472.3(ABHD12):c.1190A>G (p.Gln397Arg)	not provided [RCV001226433]	uncertain significance	20	25300852	25300852	Human		name
38463179	CV951014	single nucleotide variant	NM_001042472.3(ABHD12):c.1148G>A (p.Arg383Gln)	ABHD12-related disorder [RCV004756195]\|not provided [RCV001233842]\|not specified [RCV005408768]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	25302228	25302228	Human	1	name , trait , alternate_id
38461331	CV951015	single nucleotide variant	NM_001042472.3(ABHD12):c.1043C>T (p.Ala348Val)	not provided [RCV001230582]	uncertain significance	20	25302333	25302333	Human		name
38459695	CV951016	single nucleotide variant	NM_001042472.3(ABHD12):c.1018C>T (p.Leu340Phe)	not provided [RCV001226264]	uncertain significance	20	25303561	25303561	Human		name
126746933	CV998919	single nucleotide variant	NM_001042472.3(ABHD12):c.1075G>A (p.Val359Ile)	not provided [RCV001306173]	uncertain significance	20	25302301	25302301	Human		name
151790297	CV1373469	microsatellite	NM_001042472.3(ABHD12):c.205_206del (p.Trp69fs)	not provided [RCV001898113]	pathogenic	20	25339337	25339338	Human		name
13519553	CV424226	deletion	NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)	PHARC syndrome [RCV000585749]\|not provided [RCV002524060]	pathogenic	20	25339320	25339332	Human	1	name
150407344	CV1200087	deletion	NM_001042472.3(ABHD12):c.337_338del (p.Asp113fs)	not provided [RCV001579745]	pathogenic	20	25323409	25323410	Human		name
151864986	CV1477399	deletion	NM_001042472.3(ABHD12):c.738_748del (p.Leu247fs)	not provided [RCV001939048]	pathogenic	20	25309447	25309457	Human		name
8555383	CV15065	duplication	NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)	PHARC syndrome [RCV000000043]	pathogenic	20	25307980	25307981	Human	1	name
151800439	CV1382030	insertion	NM_001042472.3(ABHD12):c.1092_1093insA (p.His365fs)	not provided [RCV001952873]	pathogenic\|uncertain significance	20	25302283	25302284	Human		name
156325278	CV2097522	indel	NM_001042472.3(ABHD12):c.347_348delinsG (p.Lys116fs)	not provided [RCV002899589]	pathogenic	20	25323399	25323400	Human		name
8594835	CV15063	indel	NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)	PHARC syndrome [RCV000000041]\|not provided [RCV000522470]	pathogenic	20	25323409	25323410	Human		name
617153527	CV4016622	indel	NM_001042472.3(ABHD12):c.835_837delinsTGT (p.Arg279Cys)	not provided [RCV005415719]	uncertain significance	20	25307996	25307998	Human		name
13674019	CV535709	deletion	NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)	PHARC syndrome [RCV000656406]	likely pathogenic	20	25302247	25302252	Human	1	name
38470571	CV938921	deletion	NM_001042472.3(ABHD12):c.1195_1196del (p.Ter399SerextTer?)	not provided [RCV001208517]	uncertain significance	20	25300846	25300847	Human		name
405274041	CV3191042	single nucleotide variant	NC_000020.11:g.25294968T>C	ABHD12-related disorder [RCV003921460]	likely benign	20	25294968	25294968	Human		trait , alternate_id
156329371	CV2342394	single nucleotide variant	NM_001206673.2(ABHD12B):c.7G>A (p.Ala3Thr)	not specified [RCV004194007]	uncertain significance	14	50872181	50872181	Human		name
401902011	CV2810418	single nucleotide variant	NM_001206673.2(ABHD12B):c.132C>T (p.Leu44=)	not provided [RCV003393429]	likely benign	14	50877979	50877979	Human		name
156287770	CV2288429	single nucleotide variant	NM_001206673.2(ABHD12B):c.71C>A (p.Ala24Asp)	not specified [RCV004151977]	uncertain significance	14	50872245	50872245	Human		name
156289371	CV2333122	single nucleotide variant	NM_001206673.2(ABHD12B):c.35C>T (p.Pro12Leu)	not specified [RCV004194415]	likely benign	14	50872209	50872209	Human		name
329351612	CV2476570	single nucleotide variant	NM_001206673.2(ABHD12B):c.813A>G (p.Thr271=)	not provided [RCV003222802]	likely benign	14	50901861	50901861	Human		name
156016179	CV2360404	single nucleotide variant	NM_001206673.2(ABHD12B):c.155A>G (p.Tyr52Cys)	not specified [RCV004208731]	uncertain significance	14	50878002	50878002	Human		name
329377947	CV2436087	single nucleotide variant	NM_001206673.2(ABHD12B):c.112C>G (p.Pro38Ala)	not specified [RCV004255303]	uncertain significance	14	50877959	50877959	Human		name
401752005	CV2682666	single nucleotide variant	NM_001206673.2(ABHD12B):c.128T>C (p.Met43Thr)	not specified [RCV004281648]	likely benign	14	50877975	50877975	Human		name
407501144	CV3480593	single nucleotide variant	NM_001206673.2(ABHD12B):c.212T>C (p.Met71Thr)	not specified [RCV004669728]	uncertain significance	14	50878059	50878059	Human		name
597778947	CV3580984	single nucleotide variant	NM_001206673.2(ABHD12B):c.172A>G (p.Lys58Glu)	not specified [RCV004853135]	uncertain significance	14	50878019	50878019	Human		name
598247146	CV3904576	single nucleotide variant	NM_001206673.2(ABHD12B):c.220T>A (p.Tyr74Asn)	not specified [RCV005258599]	uncertain significance	14	50878067	50878067	Human		name
156014909	CV2301631	single nucleotide variant	NM_001206673.2(ABHD12B):c.334T>C (p.Trp112Arg)	not specified [RCV004162535]	uncertain significance	14	50878846	50878846	Human		name
156395497	CV2329226	single nucleotide variant	NM_001206673.2(ABHD12B):c.974A>T (p.Asn325Ile)	not specified [RCV004173972]	uncertain significance	14	50904105	50904105	Human		name
156291670	CV2339889	single nucleotide variant	NM_001206673.2(ABHD12B):c.791A>T (p.Asn264Ile)	not specified [RCV004189995]	uncertain significance	14	50901839	50901839	Human		name
156263929	CV2388910	single nucleotide variant	NM_001206673.2(ABHD12B):c.553A>G (p.Lys185Glu)	not specified [RCV004241914]	uncertain significance	14	50885786	50885786	Human		name
156038328	CV2390172	single nucleotide variant	NM_001206673.2(ABHD12B):c.536T>C (p.Phe179Ser)	not specified [RCV004240555]	uncertain significance	14	50885769	50885769	Human		name
329351844	CV2455380	single nucleotide variant	NM_001206673.2(ABHD12B):c.985G>T (p.Val329Phe)	not specified [RCV004274876]	uncertain significance	14	50904116	50904116	Human		name
329379437	CV2456149	single nucleotide variant	NM_001206673.2(ABHD12B):c.470G>C (p.Arg157Thr)	not specified [RCV004273344]	uncertain significance	14	50881610	50881610	Human		name
401750009	CV2695906	single nucleotide variant	NM_001206673.2(ABHD12B):c.422T>C (p.Ile141Thr)	not specified [RCV004308183]	uncertain significance	14	50880538	50880538	Human		name
401891100	CV2769031	single nucleotide variant	NM_001206673.2(ABHD12B):c.940A>G (p.Lys314Glu)	not specified [RCV004348901]	uncertain significance	14	50903465	50903465	Human		name
401858548	CV2774346	single nucleotide variant	NM_001206673.2(ABHD12B):c.525C>A (p.Asp175Glu)	not specified [RCV004347695]	uncertain significance	14	50885652	50885652	Human		name
401892170	CV2775979	single nucleotide variant	NM_001206673.2(ABHD12B):c.916A>G (p.Thr306Ala)	not specified [RCV004344995]	uncertain significance	14	50903441	50903441	Human		name
405676513	CV3283080	single nucleotide variant	NM_001206673.2(ABHD12B):c.548C>T (p.Thr183Ile)	not specified [RCV004420741]	uncertain significance	14	50885781	50885781	Human		name
405676548	CV3283087	single nucleotide variant	NM_001206673.2(ABHD12B):c.575C>T (p.Thr192Ile)	not specified [RCV004420748]	uncertain significance	14	50885808	50885808	Human		name
405676578	CV3283093	single nucleotide variant	NM_001206673.2(ABHD12B):c.583G>A (p.Ala195Thr)	not specified [RCV004420754]	uncertain significance	14	50885816	50885816	Human		name
405676237	CV3286906	single nucleotide variant	NM_001206673.2(ABHD12B):c.314C>T (p.Pro105Leu)	not specified [RCV004420714]	uncertain significance	14	50878826	50878826	Human		name
405676410	CV3286915	single nucleotide variant	NM_001206673.2(ABHD12B):c.407G>C (p.Arg136Pro)	not specified [RCV004420723]	uncertain significance	14	50880523	50880523	Human		name
407425105	CV3409354	single nucleotide variant	NM_001206673.2(ABHD12B):c.958C>T (p.Arg320Cys)	not provided [RCV004585285]	likely benign	14	50904089	50904089	Human		name
407469363	CV3480407	single nucleotide variant	NM_001206673.2(ABHD12B):c.707C>A (p.Pro236Gln)	not specified [RCV004661452]	uncertain significance	14	50888830	50888830	Human		name
407493355	CV3480504	single nucleotide variant	NM_001206673.2(ABHD12B):c.568G>A (p.Gly190Arg)	not specified [RCV004667363]	uncertain significance	14	50885801	50885801	Human		name
407490162	CV3484070	single nucleotide variant	NM_001206673.2(ABHD12B):c.536T>G (p.Phe179Cys)	not specified [RCV004666220]	uncertain significance	14	50885769	50885769	Human		name
407490356	CV3484166	single nucleotide variant	NM_001206673.2(ABHD12B):c.848T>C (p.Phe283Ser)	not specified [RCV004666286]	uncertain significance	14	50901896	50901896	Human		name
407492986	CV3484260	single nucleotide variant	NM_001206673.2(ABHD12B):c.382T>C (p.Cys128Arg)	not specified [RCV004667270]	likely benign	14	50880498	50880498	Human		name
596946474	CV3548295	single nucleotide variant	NM_001206673.2(ABHD12B):c.919G>C (p.Val307Leu)	not provided [RCV004810120]	likely benign	14	50903444	50903444	Human		name
597778543	CV3580793	single nucleotide variant	NM_001206673.2(ABHD12B):c.544T>G (p.Ser182Ala)	not specified [RCV004853032]	uncertain significance	14	50885777	50885777	Human		name
597778773	CV3580833	single nucleotide variant	NM_001206673.2(ABHD12B):c.788G>A (p.Arg263Gln)	not specified [RCV004853056]	uncertain significance	14	50901836	50901836	Human		name
597778574	CV3580890	single nucleotide variant	NM_001206673.2(ABHD12B):c.993G>A (p.Met331Ile)	not specified [RCV004853064]	uncertain significance	14	50904124	50904124	Human		name
598180625	CV3904432	single nucleotide variant	NM_001206673.2(ABHD12B):c.749G>T (p.Trp250Leu)	not specified [RCV005265052]	uncertain significance	14	50888872	50888872	Human		name
598246638	CV3904495	single nucleotide variant	NM_001206673.2(ABHD12B):c.521T>C (p.Val174Ala)	not specified [RCV005258519]	uncertain significance	14	50885648	50885648	Human		name
401900012	CV2780178	single nucleotide variant	NM_001206673.2(ABHD12B):c.1055C>A (p.Thr352Asn)	not specified [RCV004355826]	uncertain significance	14	50904186	50904186	Human		name

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