Atp6v0a2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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736 records found for search term Atp6v0a2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8555840	CV15885	single nucleotide variant	ATP6V0A2, 10132G-A	Wrinkly skin syndrome [RCV000000889]	pathogenic				Human		name
8570434	CV48052	insertion	ATP6V0A2, 1-BP INS, 100A	Cutis laxa with osteodystrophy [RCV000032648]	pathogenic				Human	1	name , alternate_id
8642431	CV101414	single nucleotide variant	NM_012463.4(ATP6V0A2):c.-14C>T	Cutis Laxa, Recessive [RCV000339426]\|Cutis laxa with osteodystrophy [RCV001111206]\|Joubert syndrome [RCV000305731]\|Meckel-Gruber syndrome [RCV000407551]\|not provided [RCV004703229]\|not specified [RCV000081542]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	123712552	123712552	Human	4	name , alternate_id
11644938	CV329793	duplication	NM_012463.4(ATP6V0A2):c.*60dup	Cutis Laxa, Recessive [RCV000262548]	uncertain significance	12	123758089	123758090	Human	1	name
28870098	CV869494	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*63C>T	Cutis laxa with osteodystrophy [RCV001113405]	uncertain significance	12	123758095	123758095	Human	1	name , alternate_id
11665621	CV316275	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-222C>G	Cutis Laxa, Recessive [RCV000291555]\|Joubert syndrome [RCV000340470]\|Meckel-Gruber syndrome [RCV000283085]\|not provided [RCV001597065]	benign\|likely benign	12	123712344	123712344	Human	3	name
11605944	CV316277	single nucleotide variant	NM_012463.4(ATP6V0A2):c.-170C>A	Cutis Laxa, Recessive [RCV000325607]\|Cutis laxa with osteodystrophy [RCV001111204]	uncertain significance	12	123712396	123712396	Human	2	name , alternate_id
11658749	CV316289	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*564T>C	Cutis laxa with osteodystrophy [RCV000351389]	uncertain significance	12	123758596	123758596	Human	1	name , alternate_id
11603836	CV316290	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*998T>C	Cutis laxa with osteodystrophy [RCV000303399]	likely benign	12	123759030	123759030	Human	1	name , alternate_id
11606450	CV323665	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*191T>C	Cutis laxa with osteodystrophy [RCV000331687]\|not provided [RCV001582945]	benign\|likely benign\|uncertain significance	12	123758223	123758223	Human	1	name , alternate_id
11607842	CV323681	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*709C>T	Cutis laxa with osteodystrophy [RCV000347720]	uncertain significance	12	123758741	123758741	Human	1	name , alternate_id
11611524	CV323683	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*785T>C	Cutis laxa with osteodystrophy [RCV000395960]	likely benign\|uncertain significance	12	123758817	123758817	Human	1	name , alternate_id
11656214	CV329777	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-243C>A	Cutis Laxa, Recessive [RCV000331533]	uncertain significance	12	123712323	123712323	Human	1	name
11662080	CV329778	single nucleotide variant	NM_012463.4(ATP6V0A2):c.-148C>T	Cutis laxa with osteodystrophy [RCV000382496]	uncertain significance	12	123712418	123712418	Human	1	name , alternate_id
11624173	CV329794	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*574C>T	Cutis laxa with osteodystrophy [RCV000382600]\|not provided [RCV004708241]	benign\|likely benign	12	123758606	123758606	Human	1	name , alternate_id
11615715	CV329803	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*577C>T	Cutis laxa with osteodystrophy [RCV000288240]	uncertain significance	12	123758609	123758609	Human	1	name , alternate_id
11624264	CV331041	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-227A>G	Cutis Laxa, Recessive [RCV000383636]\|not provided [RCV000838619]	likely benign	12	123712339	123712339	Human	1	name
11615512	CV331046	single nucleotide variant	NM_012463.4(ATP6V0A2):c.-117C>T	Cutis laxa with osteodystrophy [RCV000286699]	likely benign\|uncertain significance	12	123712449	123712449	Human	1	name , alternate_id
11662461	CV331086	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*271A>G	Cutis laxa with osteodystrophy [RCV000386176]	uncertain significance	12	123758303	123758303	Human	1	name , alternate_id
11651056	CV331087	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*434T>A	Cutis laxa with osteodystrophy [RCV000296453]	uncertain significance	12	123758466	123758466	Human	1	name , alternate_id
8566950	CV34350	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*115C>T	Cutis laxa with osteodystrophy [RCV000020687]	benign	12	123758147	123758147	Human	1	name , alternate_id
14713561	CV665464	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-407A>T	not provided [RCV000828752]	benign	12	123712159	123712159	Human		name
14730517	CV665466	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-399A>T	not provided [RCV000835720]	benign	12	123712167	123712167	Human		name
14714263	CV666139	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-511T>A	not provided [RCV000828978]	likely benign	12	123712055	123712055	Human		name
14730355	CV666144	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-378G>C	not provided [RCV000835639]	benign	12	123712188	123712188	Human		name
14713566	CV666329	single nucleotide variant	NM_012463.3(ATP6V0A2):c.-400G>C	not provided [RCV000828753]	benign	12	123712166	123712166	Human		name
28911803	CV869480	single nucleotide variant	NM_012463.4(ATP6V0A2):c.-114G>A	Cutis laxa with osteodystrophy [RCV001111205]	uncertain significance	12	123712452	123712452	Human	1	name , alternate_id
28873003	CV869495	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*575G>A	Cutis laxa with osteodystrophy [RCV001114799]	uncertain significance	12	123758607	123758607	Human	1	name , alternate_id
28873005	CV869496	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*643C>T	Cutis laxa with osteodystrophy [RCV001114800]	uncertain significance	12	123758675	123758675	Human	1	name , alternate_id
28873009	CV869497	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*706T>G	Cutis laxa with osteodystrophy [RCV001114801]	uncertain significance	12	123758738	123758738	Human	1	name , alternate_id
28873013	CV869498	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*742G>A	Cutis laxa with osteodystrophy [RCV001114802]	uncertain significance	12	123758774	123758774	Human	1	name , alternate_id
8642442	CV101425	single nucleotide variant	NM_012463.4(ATP6V0A2):c.825+2T>C	not provided [RCV000180309]	pathogenic	12	123735626	123735626	Human		name
151746549	CV1364485	single nucleotide variant	NM_012463.4(ATP6V0A2):c.118-1G>T	ALG9 congenital disorder of glycosylation [RCV001985792]	likely pathogenic	12	123718622	123718622	Human	1	name
152056113	CV1590995	single nucleotide variant	NM_012463.4(ATP6V0A2):c.197-4A>G	ALG9 congenital disorder of glycosylation [RCV002109560]	likely benign	12	123722347	123722347	Human	1	name
156081160	CV1982793	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+9C>A	ALG9 congenital disorder of glycosylation [RCV002638905]	likely benign	12	123712691	123712691	Human	1	name
156082499	CV2012056	single nucleotide variant	NM_012463.4(ATP6V0A2):c.196+8T>A	ALG9 congenital disorder of glycosylation [RCV002706034]	likely benign	12	123718709	123718709	Human	1	name
156302244	CV2079561	single nucleotide variant	NM_012463.4(ATP6V0A2):c.731+6A>G	ALG9 congenital disorder of glycosylation [RCV002857231]	uncertain significance	12	123734014	123734014	Human	1	name
156244969	CV2086161	single nucleotide variant	NM_012463.4(ATP6V0A2):c.118-9T>G	ALG9 congenital disorder of glycosylation [RCV002876736]	likely benign	12	123718614	123718614	Human	1	name
11582143	CV268636	single nucleotide variant	NM_012463.4(ATP6V0A2):c.522-9G>A	ALG9 congenital disorder of glycosylation [RCV002059154]\|ATP6V0A2-related disorder [RCV003920076]\|Cutis laxa with osteodystrophy [RCV000399420]\|not provided [RCV000277913]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123727774	123727774	Human	2	name , trait , alternate_id
402469746	CV2881610	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+7G>A	ALG9 congenital disorder of glycosylation [RCV003504179]	likely benign	12	123712689	123712689	Human	1	name
402471307	CV2898983	deletion	NM_012463.4(ATP6V0A2):c.117+1del	ALG9 congenital disorder of glycosylation [RCV003504570]\|Cutis laxa with osteodystrophy [RCV005013034]	likely pathogenic	12	123712683	123712683	Human	2	name , alternate_id
402466177	CV2924995	single nucleotide variant	NM_012463.4(ATP6V0A2):c.118-4T>C	ALG9 congenital disorder of glycosylation [RCV003503229]	likely benign	12	123718619	123718619	Human	1	name
402466182	CV2924996	deletion	NM_012463.4(ATP6V0A2):c.118-6del	ALG9 congenital disorder of glycosylation [RCV003503230]	benign	12	123718614	123718614	Human	1	name
405045077	CV2964704	single nucleotide variant	NM_012463.4(ATP6V0A2):c.433-5T>C	ALG9 congenital disorder of glycosylation [RCV003610097]	likely benign	12	123726192	123726192	Human	1	name
11608395	CV316293	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1454A>G	Cutis laxa with osteodystrophy [RCV000354384]	uncertain significance	12	123759486	123759486	Human	1	name , alternate_id
11606308	CV316294	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1693C>G	Cutis laxa with osteodystrophy [RCV000330111]\|not provided [RCV004708243]	benign	12	123759725	123759725	Human	1	name , alternate_id
11647344	CV316296	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1828C>G	Cutis laxa with osteodystrophy [RCV000275733]	uncertain significance	12	123759860	123759860	Human	1	name , alternate_id
11610339	CV316304	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3425G>A	Cutis laxa with osteodystrophy [RCV000380607]\|not provided [RCV004706916]	benign	12	123761457	123761457	Human	1	name , alternate_id
11605194	CV316306	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3553G>A	Cutis laxa with osteodystrophy [RCV000316824]\|not provided [RCV004708244]	benign	12	123761585	123761585	Human	1	name , alternate_id
11609685	CV316307	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3603G>A	Cutis laxa with osteodystrophy [RCV000371515]\|not provided [RCV004706917]	benign\|likely benign	12	123761635	123761635	Human	1	name , alternate_id
11611495	CV323685	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1205C>G	Cutis laxa with osteodystrophy [RCV000395958]	benign\|likely benign	12	123759237	123759237	Human	1	name , alternate_id
11603903	CV323690	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1252A>G	Cutis laxa with osteodystrophy [RCV000304256]	uncertain significance	12	123759284	123759284	Human	1	name , alternate_id
11603545	CV323692	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1600G>A	Cutis laxa with osteodystrophy [RCV000300917]\|not provided [RCV004708242]	benign\|likely benign	12	123759632	123759632	Human	1	name , alternate_id
11659214	CV323693	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1680C>T	Cutis laxa with osteodystrophy [RCV000355737]	uncertain significance	12	123759712	123759712	Human	1	name , alternate_id
11607032	CV323694	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2485C>T	Cutis laxa with osteodystrophy [RCV000338585]	likely benign\|uncertain significance	12	123760517	123760517	Human	1	name , alternate_id
11611401	CV323702	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2646A>G	Cutis laxa with osteodystrophy [RCV000394243]	benign\|likely benign	12	123760678	123760678	Human	1	name , alternate_id
11609391	CV323703	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2877T>A	Cutis laxa with osteodystrophy [RCV000367430]\|not provided [RCV004706913]	benign\|likely benign	12	123760909	123760909	Human	1	name , alternate_id
11604911	CV323721	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3000G>A	Cutis laxa with osteodystrophy [RCV000314254]	benign\|likely benign	12	123761032	123761032	Human	1	name , alternate_id
11599911	CV323722	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3159G>A	Cutis laxa with osteodystrophy [RCV000269552]	uncertain significance	12	123761191	123761191	Human	1	name , alternate_id
11606268	CV323726	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3166C>T	Cutis laxa with osteodystrophy [RCV000329366]	uncertain significance	12	123761198	123761198	Human	1	name , alternate_id
11609236	CV323736	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3227C>G	Cutis laxa with osteodystrophy [RCV000365499]\|not provided [RCV004706914]	benign\|likely benign	12	123761259	123761259	Human	1	name , alternate_id
11612468	CV329806	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1599C>T	Cutis laxa with osteodystrophy [RCV000259548]	uncertain significance	12	123759631	123759631	Human	1	name , alternate_id
11624673	CV329807	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1799A>C	Cutis laxa with osteodystrophy [RCV000388835]	uncertain significance	12	123759831	123759831	Human	1	name , alternate_id
11655513	CV329810	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2039C>G	Cutis laxa with osteodystrophy [RCV000326148]	uncertain significance	12	123760071	123760071	Human	1	name , alternate_id
11624049	CV329820	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2085C>G	Cutis laxa with osteodystrophy [RCV000380794]	likely benign\|uncertain significance	12	123760117	123760117	Human	1	name , alternate_id
11648696	CV329837	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2198C>T	Cutis laxa with osteodystrophy [RCV000283059]	uncertain significance	12	123760230	123760230	Human	1	name , alternate_id
11625039	CV329841	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2353G>T	Cutis laxa with osteodystrophy [RCV000394260]	benign\|uncertain significance	12	123760385	123760385	Human	1	name , alternate_id
11618336	CV329843	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2833A>T	Cutis laxa with osteodystrophy [RCV000312715]	uncertain significance	12	123760865	123760865	Human	1	name , alternate_id
11660146	CV329849	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3042T>G	Cutis laxa with osteodystrophy [RCV000364215]	uncertain significance	12	123761074	123761074	Human	1	name , alternate_id
11613217	CV329854	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3235A>G	Cutis laxa with osteodystrophy [RCV000266180]\|not provided [RCV004706915]	benign\|likely benign	12	123761267	123761267	Human	1	name , alternate_id
11615128	CV329858	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3665T>G	Cutis laxa with osteodystrophy [RCV000282625]	uncertain significance	12	123761697	123761697	Human	1	name , alternate_id
11620687	CV331090	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1128T>C	Cutis laxa with osteodystrophy [RCV000339651]\|not provided [RCV004706912]	benign	12	123759160	123759160	Human	1	name , alternate_id
11614217	CV331091	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1681G>A	Cutis laxa with osteodystrophy [RCV000275077]	uncertain significance	12	123759713	123759713	Human	1	name , alternate_id
11658090	CV331099	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2161C>G	Cutis laxa with osteodystrophy [RCV000346281]	uncertain significance	12	123760193	123760193	Human	1	name , alternate_id
11616753	CV331103	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2454T>C	Cutis laxa with osteodystrophy [RCV000297711]	uncertain significance	12	123760486	123760486	Human	1	name , alternate_id
11619099	CV331104	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3269A>G	Cutis laxa with osteodystrophy [RCV000321388]	uncertain significance	12	123761301	123761301	Human	1	name , alternate_id
11615388	CV331106	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3505A>G	Cutis laxa with osteodystrophy [RCV000285088]	uncertain significance	12	123761537	123761537	Human	1	name , alternate_id
8566951	CV34351	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+1G>A	Cutis laxa with osteodystrophy [RCV000020688]\|Wrinkly skin syndrome [RCV000000889]	pathogenic	12	123722449	123722449	Human	2	name , alternate_id
8566953	CV34353	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-2A>G	ALG9 congenital disorder of glycosylation [RCV003502507]\|Cutis laxa with osteodystrophy [RCV000020690]\|not provided [RCV002281042]	pathogenic\|not provided	12	123735529	123735529	Human	2	name , alternate_id
597971991	CV3798953	single nucleotide variant	NM_012463.4(ATP6V0A2):c.295-4T>A	ALG9 congenital disorder of glycosylation [RCV005142365]	likely benign	12	123724650	123724650	Human	1	name
597935818	CV3845307	deletion	NM_012463.4(ATP6V0A2):c.117+7del	ALG9 congenital disorder of glycosylation [RCV005186620]	likely benign	12	123712689	123712689	Human	1	name
597928152	CV3851742	single nucleotide variant	NM_012463.4(ATP6V0A2):c.825+9G>A	ALG9 congenital disorder of glycosylation [RCV005206210]	likely benign	12	123735633	123735633	Human	1	name
597900312	CV3855004	single nucleotide variant	NM_012463.4(ATP6V0A2):c.295-7G>A	ALG9 congenital disorder of glycosylation [RCV005201913]	likely benign	12	123724647	123724647	Human	1	name
598125064	CV3885564	single nucleotide variant	NM_012463.4(ATP6V0A2):c.196+5G>A	not specified [RCV005240142]	uncertain significance	12	123718706	123718706	Human		name
598217546	CV3895368	single nucleotide variant	NM_012463.4(ATP6V0A2):c.197-1G>A	Cutis laxa with osteodystrophy [RCV005360253]	likely pathogenic	12	123722350	123722350	Human	1	name , alternate_id
13530915	CV504549	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-3C>T	not provided [RCV001712632]	likely benign	12	123735528	123735528	Human		name
28910430	CV869499	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1064G>A	Cutis laxa with osteodystrophy [RCV001109167]	benign	12	123759096	123759096	Human	1	name , alternate_id
28910431	CV869500	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1122A>G	Cutis laxa with osteodystrophy [RCV001109168]	benign	12	123759154	123759154	Human	1	name , alternate_id
28912019	CV869501	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1620T>A	Cutis laxa with osteodystrophy [RCV001111507]	uncertain significance	12	123759652	123759652	Human	1	name , alternate_id
28912020	CV869502	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1645G>A	Cutis laxa with osteodystrophy [RCV001111508]	benign	12	123759677	123759677	Human	1	name , alternate_id
28870295	CV869503	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1731C>T	Cutis laxa with osteodystrophy [RCV001113493]	benign	12	123759763	123759763	Human	1	name , alternate_id
28870298	CV869504	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1803C>T	Cutis laxa with osteodystrophy [RCV001113494]	uncertain significance	12	123759835	123759835	Human	1	name , alternate_id
28870301	CV869505	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1837T>C	Cutis laxa with osteodystrophy [RCV001113495]	benign	12	123759869	123759869	Human	1	name , alternate_id
28870304	CV869506	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*1950G>A	Cutis laxa with osteodystrophy [RCV001113496]	uncertain significance	12	123759982	123759982	Human	1	name , alternate_id
28873255	CV869507	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2090C>T	Cutis laxa with osteodystrophy [RCV001114912]	uncertain significance	12	123760122	123760122	Human	1	name , alternate_id
28873256	CV869508	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2329G>A	Cutis laxa with osteodystrophy [RCV001114913]	benign	12	123760361	123760361	Human	1	name , alternate_id
28873258	CV869509	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2357C>T	Cutis laxa with osteodystrophy [RCV001114914]\|not provided [RCV004707552]	benign	12	123760389	123760389	Human	4	name , alternate_id
28873258	CV869509	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2357C>T	Cutis laxa with osteodystrophy [RCV001114914]\|not provided [RCV004707552]	benign	12	123760389	123760390	Human	4	name , alternate_id
28910543	CV869510	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2618A>G	Cutis laxa with osteodystrophy [RCV001109266]	uncertain significance	12	123760650	123760650	Human	1	name , alternate_id
28910544	CV869511	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2710G>A	Cutis laxa with osteodystrophy [RCV001109267]	benign	12	123760742	123760742	Human	1	name , alternate_id
28910547	CV869512	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2759T>C	Cutis laxa with osteodystrophy [RCV001109268]	uncertain significance	12	123760791	123760791	Human	1	name , alternate_id
28910548	CV869513	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2771A>G	Cutis laxa with osteodystrophy [RCV001109269]	uncertain significance	12	123760803	123760803	Human	1	name , alternate_id
28910550	CV869514	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2782C>A	Cutis laxa with osteodystrophy [RCV001109270]	uncertain significance	12	123760814	123760814	Human	1	name , alternate_id
28910552	CV869515	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2875A>C	Cutis laxa with osteodystrophy [RCV001109271]\|not provided [RCV003405319]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123760907	123760907	Human	1	name , alternate_id
28912069	CV869516	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2876A>T	Cutis laxa with osteodystrophy [RCV001111596]	uncertain significance	12	123760908	123760908	Human	1	name , alternate_id
28912070	CV869517	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*2929C>G	Cutis laxa with osteodystrophy [RCV001111597]	uncertain significance	12	123760961	123760961	Human	1	name , alternate_id
28912071	CV869518	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3167G>A	Cutis laxa with osteodystrophy [RCV001111598]	benign	12	123761199	123761199	Human	1	name , alternate_id
28867826	CV869519	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3262G>A	Cutis laxa with osteodystrophy [RCV001112076]	uncertain significance	12	123761294	123761294	Human	1	name , alternate_id
28867827	CV869520	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3357G>C	Cutis laxa with osteodystrophy [RCV001112077]	benign	12	123761389	123761389	Human	1	name , alternate_id
28867828	CV869521	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3368T>G	Cutis laxa with osteodystrophy [RCV001112078]	uncertain significance	12	123761400	123761400	Human	1	name , alternate_id
28873458	CV869522	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3654A>G	Cutis laxa with osteodystrophy [RCV001115015]	benign	12	123761686	123761686	Human	1	name , alternate_id
28873462	CV869523	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3684C>T	Cutis laxa with osteodystrophy [RCV001115016]	uncertain significance	12	123761716	123761716	Human	1	name , alternate_id
28873464	CV869524	single nucleotide variant	NM_012463.4(ATP6V0A2):c.*3707A>G	Cutis laxa with osteodystrophy [RCV001115017]	uncertain significance	12	123761739	123761739	Human	1	name , alternate_id
28910173	CV872205	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826-5C>T	Cutis laxa with osteodystrophy [RCV001108955]	uncertain significance	12	123737054	123737054	Human	1	name , alternate_id
8642435	CV101418	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1514+1G>A	ALG9 congenital disorder of glycosylation [RCV003502514]\|Cutis laxa with osteodystrophy [RCV002498429]\|not provided [RCV000174367]	pathogenic\|likely pathogenic	12	123744785	123744785	Human	2	name , alternate_id
8642440	CV101423	single nucleotide variant	NM_012463.4(ATP6V0A2):c.432+14C>T	ALG9 congenital disorder of glycosylation [RCV001516701]\|Cutis laxa with osteodystrophy [RCV000298475]\|Wrinkly skin syndrome [RCV001553944]\|not provided [RCV004706501]\|not specified [RCV000081552]	benign	12	123724805	123724805	Human	3	name , alternate_id
127318661	CV1156937	duplication	NM_012463.4(ATP6V0A2):c.2466-3dup	ALG9 congenital disorder of glycosylation [RCV001521749]\|not provided [RCV001587460]	benign\|likely benign	12	123757911	123757912	Human	1	name
150426048	CV1184645	single nucleotide variant	NM_012463.4(ATP6V0A2):c.433-60C>T	not provided [RCV001558839]	likely benign	12	123726137	123726137	Human		name
150428681	CV1187859	single nucleotide variant	NM_012463.4(ATP6V0A2):c.521+40C>T	not provided [RCV001562581]	likely benign	12	123726325	123726325	Human		name
150467505	CV1207108	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+81G>T	not provided [RCV001587900]	likely benign	12	123712763	123712763	Human		name
150498152	CV1208874	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-23T>G	not provided [RCV001594091]	likely benign	12	123735508	123735508	Human		name
150466420	CV1240406	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+51A>C	not provided [RCV001650167]	benign	12	123712733	123712733	Human		name
150493574	CV1282057	single nucleotide variant	NM_012463.4(ATP6V0A2):c.522-49A>G	not provided [RCV001717036]	benign	12	123727734	123727734	Human		name
150536688	CV1314118	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2293+1G>A	ALG9 congenital disorder of glycosylation [RCV003609191]\|not provided [RCV001780636]	pathogenic\|likely pathogenic	12	123754538	123754538	Human	1	name
151771793	CV1417790	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+4A>C	ALG9 congenital disorder of glycosylation [RCV001874523]\|Inborn genetic diseases [RCV004040451]	likely pathogenic\|uncertain significance	12	123751233	123751233	Human	2	name
152172197	CV1575756	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826-14T>G	ALG9 congenital disorder of glycosylation [RCV002183760]	likely benign	12	123737045	123737045	Human	1	name
152032323	CV1624820	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+19A>T	ALG9 congenital disorder of glycosylation [RCV002186873]	likely benign	12	123712701	123712701	Human	1	name
152115520	CV1641184	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1935+8A>G	ALG9 congenital disorder of glycosylation [RCV002117132]	likely benign	12	123748793	123748793	Human	1	name
156313696	CV1874665	single nucleotide variant	NM_012463.4(ATP6V0A2):c.197-16A>G	ALG9 congenital disorder of glycosylation [RCV003062611]	uncertain significance	12	123722335	123722335	Human	1	name
156187719	CV1882579	duplication	NM_012463.4(ATP6V0A2):c.1190-7dup	ALG9 congenital disorder of glycosylation [RCV003083770]	benign	12	123744188	123744189	Human	1	name
156016029	CV1885216	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826-20C>T	ALG9 congenital disorder of glycosylation [RCV003077365]	likely benign	12	123737039	123737039	Human	1	name
156207511	CV1906030	single nucleotide variant	NM_012463.4(ATP6V0A2):c.118-13A>G	ALG9 congenital disorder of glycosylation [RCV003084461]	likely benign	12	123718610	123718610	Human	1	name
156373385	CV1921085	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826-15G>A	ALG9 congenital disorder of glycosylation [RCV002603374]	likely benign	12	123737044	123737044	Human	1	name
155906119	CV1972137	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+8C>T	ALG9 congenital disorder of glycosylation [RCV002613683]	likely benign	12	123751237	123751237	Human	1	name
156168417	CV2041412	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1515-9T>C	ALG9 congenital disorder of glycosylation [RCV002741786]	likely benign	12	123744873	123744873	Human	1	name
156100015	CV2042142	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+16C>T	ALG9 congenital disorder of glycosylation [RCV002761283]	likely benign	12	123722464	123722464	Human	1	name
156048792	CV2059957	single nucleotide variant	NM_012463.4(ATP6V0A2):c.648+13C>T	ALG9 congenital disorder of glycosylation [RCV002796693]	likely benign	12	123727922	123727922	Human	1	name
156306368	CV2079817	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+18A>G	ALG9 congenital disorder of glycosylation [RCV002857426]	likely benign	12	123722466	123722466	Human	1	name
156184974	CV2086506	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-1G>A	ALG9 congenital disorder of glycosylation [RCV002851954]	likely pathogenic	12	123743784	123743784	Human	1	name
156342029	CV2103366	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1326+7A>C	ALG9 congenital disorder of glycosylation [RCV002900529]	likely benign	12	123744344	123744344	Human	1	name
156136461	CV2113358	single nucleotide variant	NM_012463.4(ATP6V0A2):c.649-20T>C	ALG9 congenital disorder of glycosylation [RCV002928398]	likely benign	12	123733906	123733906	Human	1	name
243056677	CV2418876	duplication	NM_012463.4(ATP6V0A2):c.2056-2dup	not specified [RCV003155843]	uncertain significance	12	123752280	123752281	Human		name
11548085	CV254452	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-23T>C	Cutis laxa with osteodystrophy [RCV001554138]\|Wrinkly skin syndrome [RCV001554139]\|not provided [RCV001689863]\|not specified [RCV000248627]	benign	12	123735508	123735508	Human	2	name , alternate_id
402468938	CV2875965	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+13C>T	ALG9 congenital disorder of glycosylation [RCV003503850]	likely benign	12	123712695	123712695	Human	1	name
405131859	CV2903203	single nucleotide variant	NM_012463.4(ATP6V0A2):c.197-14T>A	ALG9 congenital disorder of glycosylation [RCV003502224]	likely benign	12	123722337	123722337	Human	1	name
402469086	CV2924014	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1515-9T>G	ALG9 congenital disorder of glycosylation [RCV003503999]	likely benign	12	123744873	123744873	Human	1	name
405037975	CV2957457	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+17G>A	ALG9 congenital disorder of glycosylation [RCV003609515]	likely benign	12	123722465	123722465	Human	1	name
405030353	CV2994087	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+10G>A	ALG9 congenital disorder of glycosylation [RCV003608809]\|ATP6V0A2-related disorder [RCV003929280]	likely benign	12	123712692	123712692	Human	1	name , trait , alternate_id
405030249	CV2997263	single nucleotide variant	NM_012463.4(ATP6V0A2):c.649-15A>G	ALG9 congenital disorder of glycosylation [RCV003608801]	likely benign	12	123733911	123733911	Human	1	name
405051273	CV3030727	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826-18C>G	ALG9 congenital disorder of glycosylation [RCV003610540]	likely benign	12	123737041	123737041	Human	1	name
405053121	CV3049824	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2056-2A>G	ALG9 congenital disorder of glycosylation [RCV003610715]	likely pathogenic	12	123752281	123752281	Human	1	name
405042654	CV3076846	single nucleotide variant	NM_012463.4(ATP6V0A2):c.731+12A>G	ALG9 congenital disorder of glycosylation [RCV003609918]	likely benign	12	123734020	123734020	Human	1	name
405041603	CV3079256	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+9G>A	ALG9 congenital disorder of glycosylation [RCV003609828]	likely benign	12	123751238	123751238	Human	1	name
405046831	CV3080935	deletion	NM_012463.4(ATP6V0A2):c.2466-3del	ALG9 congenital disorder of glycosylation [RCV003609993]	benign	12	123757912	123757912	Human	1	name
405020115	CV3129196	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+16C>A	ALG9 congenital disorder of glycosylation [RCV003829759]	likely benign	12	123722464	123722464	Human	1	name
405025512	CV3133066	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+19A>G	ALG9 congenital disorder of glycosylation [RCV003830213]	likely benign	12	123712701	123712701	Human	1	name
405225416	CV3142358	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1725-9C>T	ALG9 congenital disorder of glycosylation [RCV003847897]	likely benign	12	123748566	123748566	Human	1	name
405230012	CV3176706	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+20C>G	ALG9 congenital disorder of glycosylation [RCV003865080]	likely benign	12	123712702	123712702	Human	1	name
402503363	CV3181367	single nucleotide variant	NM_012463.4(ATP6V0A2):c.731+16A>G	ALG9 congenital disorder of glycosylation [RCV003878200]	likely benign	12	123734024	123734024	Human	1	name
597702244	CV3713832	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1724+2T>C	Cutis laxa with osteodystrophy [RCV005008889]	likely pathogenic	12	123747727	123747727	Human	1	name , alternate_id
12840879	CV372875	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+14G>A	ALG9 congenital disorder of glycosylation [RCV002059001]\|Cutis laxa with osteodystrophy [RCV001113216]\|not provided [RCV001720235]	benign\|likely benign	12	123712696	123712696	Human	2	name , alternate_id
597845894	CV3736389	single nucleotide variant	NM_012463.4(ATP6V0A2):c.196+11T>G	ALG9 congenital disorder of glycosylation [RCV005059967]	likely benign	12	123718712	123718712	Human	1	name
597831479	CV3750960	single nucleotide variant	NM_012463.4(ATP6V0A2):c.118-12T>C	ALG9 congenital disorder of glycosylation [RCV005084704]	likely benign	12	123718611	123718611	Human	1	name
597962790	CV3753785	deletion	NM_012463.4(ATP6V0A2):c.521+11del	ALG9 congenital disorder of glycosylation [RCV005082089]	likely benign	12	123726295	123726295	Human	1	name
597936588	CV3764872	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1725-6T>G	ALG9 congenital disorder of glycosylation [RCV005117571]	likely benign	12	123748569	123748569	Human	1	name
597902537	CV3779273	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+8C>A	ALG9 congenital disorder of glycosylation [RCV005127350]	likely benign	12	123751237	123751237	Human	1	name
597969774	CV3832027	single nucleotide variant	NM_012463.4(ATP6V0A2):c.117+10G>T	ALG9 congenital disorder of glycosylation [RCV005166283]	likely benign	12	123712692	123712692	Human	1	name
597940888	CV3836577	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1724+5G>A	ALG9 congenital disorder of glycosylation [RCV005187598]	uncertain significance	12	123747730	123747730	Human	1	name
597906341	CV3846702	single nucleotide variant	NM_012463.4(ATP6V0A2):c.522-11C>T	ALG9 congenital disorder of glycosylation [RCV005182129]	likely benign	12	123727772	123727772	Human	1	name
616933573	CV4013619	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1935+1G>C	Cutis laxa with osteodystrophy [RCV005411120]	likely pathogenic	12	123748786	123748786	Human	1	name , alternate_id
12899521	CV408546	deletion	NM_012463.4(ATP6V0A2):c.522-13del	ALG9 congenital disorder of glycosylation [RCV002063757]\|not provided [RCV001704622]	benign\|likely benign	12	123727768	123727768	Human	1	name
13526665	CV503580	single nucleotide variant	NM_012463.4(ATP6V0A2):c.295-17C>A	not specified [RCV000604433]	likely benign	12	123724637	123724637	Human		name
13533547	CV503918	single nucleotide variant	NM_012463.4(ATP6V0A2):c.521+14C>G	not specified [RCV000601696]	likely benign	12	123726299	123726299	Human		name
13541400	CV503919	single nucleotide variant	NM_012463.4(ATP6V0A2):c.521+17G>A	ALG9 congenital disorder of glycosylation [RCV003767552]\|not specified [RCV000616110]	likely benign	12	123726302	123726302	Human	1	name
13529177	CV504151	single nucleotide variant	NM_012463.4(ATP6V0A2):c.196+15T>G	ALG9 congenital disorder of glycosylation [RCV005091701]\|not specified [RCV000605649]	likely benign	12	123718716	123718716	Human	1	name
13608592	CV526711	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1936-7C>T	ALG9 congenital disorder of glycosylation [RCV001078731]\|not provided [RCV000841760]	likely benign	12	123751103	123751103	Human	1	name
14733465	CV665478	single nucleotide variant	NM_012463.4(ATP6V0A2):c.118-73G>A	not provided [RCV000837107]	likely benign	12	123718550	123718550	Human		name
14742559	CV666148	single nucleotide variant	NM_012463.4(ATP6V0A2):c.432+12C>T	not provided [RCV000841477]	likely benign	12	123724803	123724803	Human		name
14743717	CV666567	single nucleotide variant	NM_012463.4(ATP6V0A2):c.521+14C>T	ALG9 congenital disorder of glycosylation [RCV002067555]\|not provided [RCV000842253]	likely benign	12	123726299	123726299	Human	1	name
14727188	CV666575	single nucleotide variant	NM_012463.4(ATP6V0A2):c.649-36G>A	not provided [RCV000834201]	likely benign	12	123733890	123733890	Human		name
14731435	CV666582	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2294-4G>A	ALG9 congenital disorder of glycosylation [RCV001519146]\|Cutis laxa with osteodystrophy [RCV001111399]\|not provided [RCV000836123]	benign\|likely benign	12	123756811	123756811	Human	2	name , alternate_id
15118823	CV744662	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2294-6T>C	not provided [RCV000895612]	likely benign	12	123756809	123756809	Human		name
28910299	CV872207	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2176-5C>G	Cutis laxa with osteodystrophy [RCV001109060]	uncertain significance	12	123754415	123754415	Human	1	name , alternate_id
38496141	CV960776	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1605+1G>A	ALG9 congenital disorder of glycosylation [RCV001242368]	pathogenic	12	123744973	123744973	Human	1	name
150336871	CV1172371	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+103T>C	Cutis laxa with osteodystrophy [RCV001553941]\|Wrinkly skin syndrome [RCV001553942]\|not provided [RCV001541246]	benign	12	123722551	123722551	Human	2	name , alternate_id
150415075	CV1177570	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-94C>A	not provided [RCV001548414]	likely benign	12	123743691	123743691	Human		name
150407428	CV1182431	single nucleotide variant	NM_012463.4(ATP6V0A2):c.649-114T>G	Cutis laxa with osteodystrophy [RCV001553946]\|Wrinkly skin syndrome [RCV001553947]\|not provided [RCV001615308]	benign	12	123733812	123733812	Human	2	name , alternate_id
150424202	CV1184643	single nucleotide variant	NM_012463.4(ATP6V0A2):c.197-263T>C	not provided [RCV001556353]	likely benign	12	123722088	123722088	Human		name
150423439	CV1184644	deletion	NM_012463.4(ATP6V0A2):c.295-112del	not provided [RCV001555322]	likely benign	12	123724529	123724529	Human		name
150424391	CV1184646	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-102G>A	not provided [RCV001556597]	likely benign	12	123735429	123735429	Human		name
150425960	CV1184647	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-12T>C	ALG9 congenital disorder of glycosylation [RCV002072111]\|not provided [RCV001558717]	benign\|likely benign	12	123743773	123743773	Human	1	name
150429213	CV1187858	single nucleotide variant	NM_012463.4(ATP6V0A2):c.295-265G>A	not provided [RCV001563299]	likely benign	12	123724389	123724389	Human		name
150426402	CV1187860	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826-217T>C	not provided [RCV001559536]	likely benign	12	123736842	123736842	Human		name
150427691	CV1187861	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-32T>A	not provided [RCV001561267]	likely benign	12	123743753	123743753	Human	2	name
150427691	CV1187861	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-32T>A	not provided [RCV001561267]	likely benign	12	123743753	123743754	Human	2	name
150411049	CV1191356	single nucleotide variant	NM_012463.4(ATP6V0A2):c.197-283A>G	not provided [RCV001566367]	likely benign	12	123722068	123722068	Human		name
150410982	CV1191357	single nucleotide variant	NM_012463.4(ATP6V0A2):c.432+251T>C	not provided [RCV001566331]	likely benign	12	123725042	123725042	Human		name
150414243	CV1198329	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-247C>T	not provided [RCV001574875]	likely benign	12	123735284	123735284	Human		name
150432959	CV1203480	single nucleotide variant	NM_012463.4(ATP6V0A2):c.522-306G>T	not provided [RCV001581635]	likely benign	12	123727477	123727477	Human		name
150461824	CV1214560	single nucleotide variant	NM_012463.4(ATP6V0A2):c.196+235G>A	not provided [RCV001613553]	benign	12	123718936	123718936	Human		name
150448799	CV1215028	single nucleotide variant	NM_012463.4(ATP6V0A2):c.295-190G>A	not provided [RCV001611617]	benign	12	123724464	123724464	Human		name
150472801	CV1217240	duplication	NM_012463.4(ATP6V0A2):c.196+173dup	not provided [RCV001615535]	benign	12	123718867	123718868	Human		name
150454417	CV1219979	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+217T>C	not provided [RCV001612361]	benign	12	123722665	123722665	Human		name
150473465	CV1234284	single nucleotide variant	NM_012463.4(ATP6V0A2):c.433-195C>T	not provided [RCV001651603]	benign	12	123726002	123726002	Human		name
150497076	CV1236962	duplication	NM_012463.4(ATP6V0A2):c.2466-73dup	not provided [RCV001656026]	benign	12	123757843	123757844	Human		name
150490254	CV1239080	duplication	NM_012463.4(ATP6V0A2):c.295-112dup	not provided [RCV001654648]	benign	12	123724528	123724529	Human		name
150465282	CV1240213	single nucleotide variant	NM_012463.4(ATP6V0A2):c.294+214C>T	not provided [RCV001649974]	benign	12	123722662	123722662	Human		name
150510849	CV1242523	single nucleotide variant	NM_012463.4(ATP6V0A2):c.522-284G>C	not provided [RCV001660875]	benign	12	123727499	123727499	Human		name
150451358	CV1254816	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-168T>C	not provided [RCV001667875]	benign	12	123735363	123735363	Human		name
150470346	CV1259810	single nucleotide variant	NM_012463.4(ATP6V0A2):c.731+242A>G	not provided [RCV001684112]	benign	12	123734250	123734250	Human		name
150479688	CV1282356	single nucleotide variant	NM_012463.4(ATP6V0A2):c.433-117T>C	not provided [RCV001714507]	benign	12	123726080	123726080	Human		name
150494690	CV1282725	single nucleotide variant	NM_012463.4(ATP6V0A2):c.825+183A>C	not provided [RCV001717246]	benign	12	123735807	123735807	Human		name
150480474	CV1282726	single nucleotide variant	NM_012463.4(ATP6V0A2):c.522-159T>C	not provided [RCV001714655]	benign	12	123727624	123727624	Human		name
150443576	CV1287903	single nucleotide variant	NM_012463.4(ATP6V0A2):c.432+230C>T	not provided [RCV001725625]	benign	12	123725021	123725021	Human		name
151868812	CV1426206	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1605+13C>T	ALG9 congenital disorder of glycosylation [RCV002035392]	likely benign	12	123744985	123744985	Human	1	name
152128455	CV1554388	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1038+19C>T	ALG9 congenital disorder of glycosylation [RCV002176473]	likely benign	12	123737290	123737290	Human	1	name
152160767	CV1568514	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1605+16T>G	ALG9 congenital disorder of glycosylation [RCV002203391]	likely benign	12	123744988	123744988	Human	1	name
152075673	CV1653156	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-13G>A	ALG9 congenital disorder of glycosylation [RCV002075698]	likely benign	12	123743772	123743772	Human	1	name
156035056	CV1890099	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2294-12A>G	ALG9 congenital disorder of glycosylation [RCV003078279]	likely benign	12	123756803	123756803	Human	1	name
156434081	CV1946799	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2466-10T>G	ALG9 congenital disorder of glycosylation [RCV003104263]	likely benign	12	123757917	123757917	Human	1	name
155957250	CV2010517	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2056-20T>C	ALG9 congenital disorder of glycosylation [RCV002686331]	likely benign	12	123752263	123752263	Human	1	name
156056352	CV2050535	deletion	NM_012463.4(ATP6V0A2):c.1725-10del	ALG9 congenital disorder of glycosylation [RCV002796939]	benign	12	123748562	123748562	Human	1	name
156266517	CV2097108	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2056-14C>T	ALG9 congenital disorder of glycosylation [RCV002877457]	likely benign	12	123752269	123752269	Human	1	name
156331467	CV2188003	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2466-16C>T	ALG9 congenital disorder of glycosylation [RCV003063722]	likely benign	12	123757911	123757911	Human	1	name
402468165	CV2871750	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2056-10T>C	ALG9 congenital disorder of glycosylation [RCV003503773]	likely benign	12	123752273	123752273	Human	1	name
402469871	CV2882076	duplication	NM_012463.4(ATP6V0A2):c.1724+20dup	ALG9 congenital disorder of glycosylation [RCV003504239]	benign	12	123747736	123747737	Human	1	name
402470298	CV2883151	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1605+10C>T	ALG9 congenital disorder of glycosylation [RCV003504354]	likely benign	12	123744982	123744982	Human	1	name
405037693	CV2939397	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-15T>C	ALG9 congenital disorder of glycosylation [RCV003609467]	likely benign	12	123743770	123743770	Human	1	name
405046132	CV2969389	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1724+11A>T	ALG9 congenital disorder of glycosylation [RCV003610174]	likely benign	12	123747736	123747736	Human	1	name
405053577	CV3047013	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2466-16C>G	ALG9 congenital disorder of glycosylation [RCV003610753]	likely benign	12	123757911	123757911	Human	1	name
405213520	CV3142811	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2465+20T>C	ALG9 congenital disorder of glycosylation [RCV003846169]	likely benign	12	123757006	123757006	Human	1	name
11605716	CV316282	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-14T>C	ALG9 congenital disorder of glycosylation [RCV002056278]\|Cutis laxa with osteodystrophy [RCV000322890]\|not provided [RCV004708240]\|not specified [RCV000426196]	benign\|likely benign	12	123743771	123743771	Human	2	name , alternate_id
11650830	CV329787	deletion	NM_012463.4(ATP6V0A2):c.1724+20del	ALG9 congenital disorder of glycosylation [RCV002056279]\|Cutis Laxa, Recessive [RCV000295227]\|not provided [RCV001653511]	benign\|likely benign	12	123747737	123747737	Human	2	name
12842089	CV371882	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1189+12G>T	ALG9 congenital disorder of glycosylation [RCV002063585]\|Cutis laxa with osteodystrophy [RCV001113314]\|not specified [RCV000433780]	benign\|likely benign\|uncertain significance	12	123743947	123743947	Human	2	name , alternate_id
12835200	CV372614	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1606-12G>A	ALG9 congenital disorder of glycosylation [RCV001517104]\|Cutis laxa with osteodystrophy [RCV001114687]\|not provided [RCV004707249]\|not specified [RCV000421277]	benign	12	123747595	123747595	Human	2	name , alternate_id
12844587	CV372880	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1724+20T>A	ALG9 congenital disorder of glycosylation [RCV003766422]\|not specified [RCV000438251]	likely benign	12	123747745	123747745	Human	1	name
597837922	CV3740248	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+15G>A	ALG9 congenital disorder of glycosylation [RCV005064276]	likely benign	12	123751244	123751244	Human	1	name
597925634	CV3808819	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2176-14G>C	ALG9 congenital disorder of glycosylation [RCV005156334]	likely benign	12	123754406	123754406	Human	1	name
597950351	CV3818969	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1514+16C>T	ALG9 congenital disorder of glycosylation [RCV005161039]	likely benign	12	123744800	123744800	Human	1	name
597928476	CV3837268	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1725-19G>T	ALG9 congenital disorder of glycosylation [RCV005185426]	likely benign	12	123748556	123748556	Human	1	name
597938567	CV3852860	duplication	NM_012463.4(ATP6V0A2):c.1326+13dup	ALG9 congenital disorder of glycosylation [RCV005187261]	likely benign	12	123744347	123744348	Human	1	name
13533694	CV503591	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1327-16G>A	ALG9 congenital disorder of glycosylation [RCV002065290]\|Cutis laxa with osteodystrophy [RCV002491267]\|not specified [RCV000601741]	benign\|likely benign	12	123744581	123744581	Human	2	name , alternate_id
13541178	CV503593	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2056-14C>G	ALG9 congenital disorder of glycosylation [RCV002063225]\|not specified [RCV000615789]	likely benign	12	123752269	123752269	Human	1	name
13540520	CV504154	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-13G>T	ALG9 congenital disorder of glycosylation [RCV002064382]\|not provided [RCV001704794]	likely benign	12	123743772	123743772	Human	1	name
14710167	CV665483	deletion	NM_012463.4(ATP6V0A2):c.295-276del	not provided [RCV000843319]	benign	12	123724370	123724370	Human		name
14736574	CV665487	single nucleotide variant	NM_012463.4(ATP6V0A2):c.433-170A>G	not provided [RCV000838536]	benign	12	123726027	123726027	Human		name
14745366	CV665490	single nucleotide variant	NM_012463.4(ATP6V0A2):c.732-287C>T	not provided [RCV000843320]	benign	12	123735244	123735244	Human		name
14735376	CV666150	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1935+75T>C	not provided [RCV000837979]	likely benign	12	123748860	123748860	Human		name
14730519	CV666589	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2465+58T>C	not provided [RCV000835721]	benign	12	123757044	123757044	Human		name
28869900	CV872206	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1515-12T>G	ALG9 congenital disorder of glycosylation [RCV003502589]\|Cutis laxa with osteodystrophy [RCV001113319]	likely benign\|uncertain significance	12	123744870	123744870	Human	2	name , alternate_id
150331698	CV1163576	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-127A>C	not provided [RCV001527909]	likely benign	12	123743658	123743658	Human		name
150331595	CV1163577	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1190-123C>T	not provided [RCV001527866]	benign	12	123744078	123744078	Human		name
150330747	CV1172373	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+114A>G	not provided [RCV001538255]	benign	12	123751343	123751343	Human		name
150421797	CV1180957	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2175+267G>A	not provided [RCV001552180]	likely benign	12	123752669	123752669	Human		name
150427857	CV1187862	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+166C>G	not provided [RCV001561484]	likely benign	12	123751395	123751395	Human		name
150418449	CV1194631	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-110A>C	not provided [RCV001569224]	likely benign	12	123743675	123743675	Human		name
150438586	CV1201424	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1039-303C>T	not provided [RCV001583236]	likely benign	12	123743482	123743482	Human		name
150462625	CV1206616	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1190-115T>C	not provided [RCV001587017]	likely benign	12	123744086	123744086	Human		name
150517294	CV1226742	deletion	NM_012463.4(ATP6V0A2):c.1039-123del	not provided [RCV001639836]	benign	12	123743654	123743654	Human		name
150472201	CV1259254	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1606-301G>A	not provided [RCV001684500]	benign	12	123747306	123747306	Human		name
243052254	CV2404344	microsatellite	NM_012463.4(ATP6V0A2):c.826-89GA[3]	not provided [RCV003129370]	likely benign	12	123736969	123736970	Human		name
14745372	CV665492	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2056-333C>T	not provided [RCV000843322]	benign	12	123751950	123751950	Human		name
14745370	CV666335	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2055+252C>T	not provided [RCV000843321]	benign	12	123751481	123751481	Human		name
14736745	CV666579	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1936-147C>T	not provided [RCV000838620]	likely benign	12	123750963	123750963	Human		name
21404475	CV802179	microsatellite	NM_012463.4(ATP6V0A2):c.2176-10TC[2]	Cutis laxa with osteodystrophy [RCV001004863]	uncertain significance	12	123754410	123754413	Human		name , alternate_id
11657524	CV316303	duplication	NM_012463.4(ATP6V0A2):c.2344_2346dup	Cutis Laxa, Recessive [RCV000342083]	uncertain significance	12	123760374	123760375	Human	1	name
11647625	CV323707	deletion	NM_012463.4(ATP6V0A2):c.2984_2986del	Cutis Laxa, Recessive [RCV000277620]	uncertain significance	12	123761014	123761016	Human	1	name
11661560	CV329835	deletion	NM_012463.4(ATP6V0A2):c.2186_2189del	Cutis Laxa, Recessive [RCV000377536]	uncertain significance	12	123760215	123760218	Human	1	name
11650189	CV331097	deletion	NM_012463.4(ATP6V0A2):c.2128_2129del	Cutis Laxa, Recessive [RCV000291376]	likely benign	12	123760159	123760160	Human	1	name
13833924	CV585164	deletion	NM_012463.4(ATP6V0A2):c.118-7_118-3del	ALG9 congenital disorder of glycosylation [RCV001868941]\|not provided [RCV000729315]	conflicting interpretations of pathogenicity\|uncertain significance	12	123718616	123718620	Human	1	name
127281206	CV1079134	single nucleotide variant	NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=)	ALG9 congenital disorder of glycosylation [RCV001410274]	likely benign	12	123712583	123712583	Human	1	name
598217554	CV3895369	deletion	NM_012463.4(ATP6V0A2):c.1501_1514+15del	Cutis laxa with osteodystrophy [RCV005360254]	likely pathogenic	12	123744769	123744797	Human	1	name , alternate_id
150544366	CV1297939	deletion	NM_012463.4(ATP6V0A2):c.1515-3_1515-2del	not provided [RCV001772847]	uncertain significance	12	123744878	123744879	Human		name
152032320	CV1624819	microsatellite	NM_012463.4(ATP6V0A2):c.117+18_117+19del	ALG9 congenital disorder of glycosylation [RCV002186872]	likely benign	12	123712698	123712699	Human		name
156029650	CV1910559	single nucleotide variant	NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)	ALG9 congenital disorder of glycosylation [RCV002619792]	likely benign	12	123712643	123712643	Human	1	name
10048246	CV192668	deletion	NM_012463.4(ATP6V0A2):c.2466-4_2466-3del	not specified [RCV000176091]	benign	12	123757912	123757913	Human		name
156363404	CV1931919	single nucleotide variant	NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)	ALG9 congenital disorder of glycosylation [RCV002632836]	likely benign	12	123712628	123712628	Human	1	name
155914213	CV2026218	single nucleotide variant	NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)	ALG9 congenital disorder of glycosylation [RCV002750361]	likely benign	12	123712646	123712646	Human	1	name
156006936	CV2054373	single nucleotide variant	NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=)	ALG9 congenital disorder of glycosylation [RCV002819925]	likely benign	12	123712637	123712637	Human	1	name
405054399	CV3045020	single nucleotide variant	NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)	ALG9 congenital disorder of glycosylation [RCV003610823]	likely benign	12	123712655	123712655	Human	1	name
405041322	CV3059278	deletion	NM_012463.4(ATP6V0A2):c.1515-7_1515-5del	ALG9 congenital disorder of glycosylation [RCV003609704]	likely benign	12	123744873	123744875	Human	1	name
405263525	CV3189719	duplication	NM_012463.4(ATP6V0A2):c.2466-4_2466-3dup	ATP6V0A2-related disorder [RCV003896768]	likely benign	12	123757911	123757912	Human		name , trait , alternate_id
8566948	CV34348	deletion	NM_012463.4(ATP6V0A2):c.2176-3_2176-2del	Cutis laxa with osteodystrophy [RCV000020685]	pathogenic	12	123754417	123754418	Human	1	name , alternate_id
407495085	CV3496496	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1A>T (p.Met1Leu)	not provided [RCV004696696]	likely pathogenic	12	123712566	123712566	Human		name
597914225	CV3778825	single nucleotide variant	NM_012463.4(ATP6V0A2):c.57G>A (p.Ser19=)	ALG9 congenital disorder of glycosylation [RCV005129170]	likely benign	12	123712622	123712622	Human	1	name
15199808	CV702192	single nucleotide variant	NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=)	ALG9 congenital disorder of glycosylation [RCV000957146]	likely benign	12	123712598	123712598	Human	1	name
151729441	CV1505362	single nucleotide variant	NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln)	ALG9 congenital disorder of glycosylation [RCV002021139]	uncertain significance	12	123712582	123712582	Human	1	name
156100255	CV1920692	single nucleotide variant	NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)	ALG9 congenital disorder of glycosylation [RCV002592248]\|not provided [RCV005002960]	uncertain significance	12	123712584	123712584	Human	1	name
156146845	CV1932208	insertion	NM_012463.4(ATP6V0A2):c.117+20_117+21insT	ALG9 congenital disorder of glycosylation [RCV002623864]	likely benign	12	123712702	123712703	Human	1	name
156175700	CV2022989	single nucleotide variant	NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)	ALG9 congenital disorder of glycosylation [RCV002765455]	likely benign	12	123712667	123712667	Human	1	name
11632797	CV270637	duplication	NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)	ALG9 congenital disorder of glycosylation [RCV000689436]\|Cutis laxa [RCV002265727]\|Cutis laxa with osteodystrophy [RCV005008254]\|not provided [RCV000599054]	pathogenic\|likely pathogenic	12	123712642	123712643	Human	4	name , alternate_id
405040752	CV3066561	single nucleotide variant	NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)	ALG9 congenital disorder of glycosylation [RCV003609752]	likely benign	12	123722388	123722388	Human	1	name
11611397	CV316279	single nucleotide variant	NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)	ALG9 congenital disorder of glycosylation [RCV002056276]\|ATP6V0A2-related disorder [RCV003967885]\|Cutis laxa with osteodystrophy [RCV000394202]\|not provided [RCV000884990]	likely benign\|uncertain significance	12	123722418	123722418	Human	2	name , trait , alternate_id
405292506	CV3196479	single nucleotide variant	NM_012463.4(ATP6V0A2):c.177A>G (p.Glu59=)	ATP6V0A2-related disorder [RCV003964544]	likely benign	12	123718682	123718682	Human		name , trait , alternate_id
597946494	CV3755596	single nucleotide variant	NM_012463.4(ATP6V0A2):c.219T>C (p.Asn73=)	ALG9 congenital disorder of glycosylation [RCV005078606]	likely benign	12	123722373	123722373	Human	1	name
597907148	CV3842956	single nucleotide variant	NM_012463.4(ATP6V0A2):c.165G>C (p.Val55=)	ALG9 congenital disorder of glycosylation [RCV005182264]	likely benign	12	123718670	123718670	Human	1	name
12905981	CV413355	single nucleotide variant	NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)	ALG9 congenital disorder of glycosylation [RCV002525989]\|Cutis laxa with osteodystrophy [RCV001111207]\|Cutis laxa with osteodystrophy [RCV005010401]\|Inborn genetic diseases [RCV002527000]\|not provided [RCV000488263]	uncertain significance	12	123712591	123712591	Human	3	name , alternate_id
13517381	CV489736	single nucleotide variant	NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	ALG9 congenital disorder of glycosylation [RCV001085019]\|Cutis laxa with osteodystrophy [RCV001113217]\|not provided [RCV000726817]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123722418	123722418	Human	2	name , alternate_id
15138261	CV693155	single nucleotide variant	NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=)	not provided [RCV000877131]	likely benign	12	123722391	123722391	Human		name
15113339	CV768928	single nucleotide variant	NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=)	ALG9 congenital disorder of glycosylation [RCV003502578]	likely benign	12	123722388	123722388	Human	1	name
15144467	CV784295	single nucleotide variant	NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=)	ALG9 congenital disorder of glycosylation [RCV000983496]	likely benign	12	123722418	123722418	Human	1	name
15144128	CV787746	duplication	NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup	ALG9 congenital disorder of glycosylation [RCV000983442]	likely benign	12	123744342	123744343	Human	1	name
8642439	CV101422	single nucleotide variant	NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)	ALG9 congenital disorder of glycosylation [RCV001516700]\|Cutis laxa with osteodystrophy [RCV000394212]\|Wrinkly skin syndrome [RCV001553943]\|not provided [RCV004707939]\|not specified [RCV000081551]	benign	12	123724785	123724785	Human	3	name , alternate_id
8642441	CV101424	single nucleotide variant	NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)	ALG9 congenital disorder of glycosylation [RCV001516702]\|Cutis laxa with osteodystrophy [RCV000369580]\|Wrinkly skin syndrome [RCV001553945]\|not provided [RCV004706502]\|not specified [RCV000081553]	benign	12	123726235	123726235	Human	3	name , alternate_id
150497816	CV1208818	deletion	NM_012463.4(ATP6V0A2):c.194del (p.Leu65fs)	not provided [RCV001594035]	pathogenic	12	123718698	123718698	Human		name
151755073	CV1340305	single nucleotide variant	NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)	ALG9 congenital disorder of glycosylation [RCV001894718]\|Cutis laxa with osteodystrophy [RCV002482562]\|Inborn genetic diseases [RCV002551039]\|not provided [RCV004591607]	uncertain significance	12	123712593	123712593	Human	3	name , alternate_id
151803338	CV1354492	single nucleotide variant	NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val)	ALG9 congenital disorder of glycosylation [RCV001867324]	uncertain significance	12	123712599	123712599	Human	1	name
152133324	CV1544898	single nucleotide variant	NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=)	ALG9 congenital disorder of glycosylation [RCV002177092]	likely benign	12	123737145	123737145	Human	1	name
152123525	CV1587265	single nucleotide variant	NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=)	ALG9 congenital disorder of glycosylation [RCV002136018]	likely benign	12	123727882	123727882	Human	1	name
152132591	CV1630223	single nucleotide variant	NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=)	ALG9 congenital disorder of glycosylation [RCV002176998]	likely benign	12	123735618	123735618	Human	1	name
152133104	CV1666151	single nucleotide variant	NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=)	ALG9 congenital disorder of glycosylation [RCV002099751]	likely benign	12	123733982	123733982	Human	1	name
156391303	CV1879555	single nucleotide variant	NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)	ALG9 congenital disorder of glycosylation [RCV003068056]	likely benign	12	123735543	123735543	Human	1	name
156405650	CV1884526	single nucleotide variant	NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)	ALG9 congenital disorder of glycosylation [RCV003070089]	likely benign	12	123737232	123737232	Human	1	name
156436063	CV1937314	single nucleotide variant	NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)	ALG9 congenital disorder of glycosylation [RCV003105176]	likely benign	12	123724692	123724692	Human	1	name
156174553	CV2000241	single nucleotide variant	NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)	ALG9 congenital disorder of glycosylation [RCV002642827]	likely benign	12	123737082	123737082	Human	1	name
156112133	CV2008695	microsatellite	NM_012463.4(ATP6V0A2):c.2056-18_2056-17del	ALG9 congenital disorder of glycosylation [RCV002695711]	likely benign	12	123752263	123752264	Human		name
156032755	CV2037043	duplication	NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup	ALG9 congenital disorder of glycosylation [RCV002781178]	likely benign	12	123751246	123751247	Human	1	name
156296096	CV2065321	single nucleotide variant	NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)	ALG9 congenital disorder of glycosylation [RCV002856948]	likely benign	12	123726283	123726283	Human	1	name
155954869	CV2077511	microsatellite	NM_012463.4(ATP6V0A2):c.1038+20_1038+22del	ALG9 congenital disorder of glycosylation [RCV002880707]	likely benign	12	123737288	123737290	Human		name
156120024	CV2077852	single nucleotide variant	NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)	ALG9 congenital disorder of glycosylation [RCV002889523]	likely benign	12	123727789	123727789	Human	1	name
156149462	CV2131144	single nucleotide variant	NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)	ALG9 congenital disorder of glycosylation [RCV002982600]	likely benign	12	123737097	123737097	Human	1	name
156296740	CV2149342	single nucleotide variant	NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)	ALG9 congenital disorder of glycosylation [RCV003010198]	likely benign	12	123737172	123737172	Human	1	name
401962779	CV2845401	single nucleotide variant	NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)	ALG9 congenital disorder of glycosylation [RCV003609301]\|not provided [RCV003482862]	likely benign\|uncertain significance	12	123726280	123726280	Human	1	name
405037223	CV2945551	single nucleotide variant	NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)	ALG9 congenital disorder of glycosylation [RCV003609425]	likely benign	12	123727906	123727906	Human	1	name
405044635	CV2971154	single nucleotide variant	NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)	ALG9 congenital disorder of glycosylation [RCV003610065]	likely benign	12	123724695	123724695	Human	1	name
405052506	CV3041656	single nucleotide variant	NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)	ALG9 congenital disorder of glycosylation [RCV003610639]	likely benign	12	123735567	123735567	Human	1	name
405039978	CV3061600	single nucleotide variant	NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)	ALG9 congenital disorder of glycosylation [RCV003609662]	likely benign	12	123737109	123737109	Human	1	name
405219687	CV3154301	single nucleotide variant	NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)	ALG9 congenital disorder of glycosylation [RCV003846993]	likely benign	12	123724692	123724692	Human	1	name
402508947	CV3182103	single nucleotide variant	NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)	ALG9 congenital disorder of glycosylation [RCV003878756]	likely benign	12	123726223	123726223	Human	1	name
11606204	CV323630	single nucleotide variant	NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)	ALG9 congenital disorder of glycosylation [RCV002520795]\|ATP6V0A2-related disorder [RCV003897705]\|Cutis laxa with osteodystrophy [RCV000328554]\|not provided [RCV001697658]	likely benign\|uncertain significance	12	123737226	123737226	Human	2	name , trait , alternate_id
11623056	CV329780	single nucleotide variant	NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=)	ALG9 congenital disorder of glycosylation [RCV000872369]\|Cutis laxa with osteodystrophy [RCV000368021]\|not provided [RCV004708239]\|not specified [RCV000424244]	benign\|likely benign	12	123735576	123735576	Human	2	name , alternate_id
11620571	CV331051	single nucleotide variant	NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)	ALG9 congenital disorder of glycosylation [RCV002056277]\|Cutis laxa with osteodystrophy [RCV000338336]\|not provided [RCV000910841]	likely benign\|uncertain significance	12	123724671	123724671	Human	2	name , alternate_id
596947436	CV3548991	single nucleotide variant	NM_012463.4(ATP6V0A2):c.82G>T (p.Ala28Ser)	not provided [RCV004811315]	uncertain significance	12	123712647	123712647	Human		name
597847440	CV3746355	single nucleotide variant	NM_012463.4(ATP6V0A2):c.339G>A (p.Lys113=)	ALG9 congenital disorder of glycosylation [RCV005060173]	likely benign	12	123724698	123724698	Human	1	name
12842340	CV374647	single nucleotide variant	NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=)	ALG9 congenital disorder of glycosylation [RCV003105907]\|not specified [RCV000434225]	likely benign	12	123735594	123735594	Human	1	name
597892535	CV3763151	single nucleotide variant	NM_012463.4(ATP6V0A2):c.894T>C (p.Arg298=)	ALG9 congenital disorder of glycosylation [RCV005110923]	likely benign	12	123737127	123737127	Human	1	name
597973159	CV3790977	single nucleotide variant	NM_012463.4(ATP6V0A2):c.594G>A (p.Gly198=)	ALG9 congenital disorder of glycosylation [RCV005143192]	likely benign	12	123727855	123727855	Human	1	name
597974470	CV3801809	single nucleotide variant	NM_012463.4(ATP6V0A2):c.924C>T (p.Ile308=)	ALG9 congenital disorder of glycosylation [RCV005143798]	likely benign	12	123737157	123737157	Human	1	name
597880004	CV3810205	single nucleotide variant	NM_012463.4(ATP6V0A2):c.309G>A (p.Lys103=)	ALG9 congenital disorder of glycosylation [RCV005149667]	likely benign	12	123724668	123724668	Human	1	name
597920542	CV3811798	single nucleotide variant	NM_012463.4(ATP6V0A2):c.714T>A (p.Val238=)	ALG9 congenital disorder of glycosylation [RCV005155629]	likely benign	12	123733991	123733991	Human	1	name
597831683	CV3830692	single nucleotide variant	NM_012463.4(ATP6V0A2):c.606G>A (p.Val202=)	ALG9 congenital disorder of glycosylation [RCV005170090]	likely benign	12	123727867	123727867	Human	1	name
597966479	CV3859119	single nucleotide variant	NM_012463.4(ATP6V0A2):c.381G>A (p.Glu127=)	ALG9 congenital disorder of glycosylation [RCV005194514]	likely benign	12	123724740	123724740	Human	1	name
13535503	CV503921	single nucleotide variant	NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=)	not specified [RCV000607822]	likely benign	12	123737073	123737073	Human		name
13537086	CV504153	single nucleotide variant	NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=)	ALG9 congenital disorder of glycosylation [RCV002531635]\|not provided [RCV001719039]	likely benign	12	123737086	123737086	Human	1	name
13592652	CV504551	single nucleotide variant	NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=)	ALG9 congenital disorder of glycosylation [RCV002064054]\|ATP6V0A2-related disorder [RCV003935681]\|not specified [RCV000605764]	likely benign	12	123735567	123735567	Human	1	name , trait , alternate_id
13833101	CV584329	single nucleotide variant	NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)	ALG9 congenital disorder of glycosylation [RCV001078478]\|not provided [RCV000728258]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123737073	123737073	Human	1	name
13833414	CV584648	single nucleotide variant	NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)	ALG9 congenital disorder of glycosylation [RCV001412196]\|Cutis laxa with osteodystrophy [RCV001111307]\|not provided [RCV000728672]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123737187	123737187	Human	2	name , alternate_id
14731422	CV656109	single nucleotide variant	NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)	ALG9 congenital disorder of glycosylation [RCV002068554]\|Cutis laxa with osteodystrophy [RCV001114576]\|not provided [RCV000836118]	benign\|likely benign\|uncertain significance	12	123726211	123726211	Human	2	name , alternate_id
28886485	CV859947	single nucleotide variant	NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val)	not provided [RCV001091865]	uncertain significance	12	123712630	123712630	Human		name
28911804	CV869481	single nucleotide variant	NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp)	Cutis laxa with osteodystrophy [RCV001111208]	uncertain significance	12	123712654	123712654	Human	1	name , alternate_id
8634555	CV89775	single nucleotide variant	NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)	ALG9 congenital disorder of glycosylation [RCV002054920]\|Cutis laxa with osteodystrophy [RCV001114577]	benign\|uncertain significance\|not provided	12	123727864	123727864	Human	2	name , alternate_id
126734694	CV1010149	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=)	ALG9 congenital disorder of glycosylation [RCV001313607]	uncertain significance	12	123737271	123737271	Human	1	name
126770848	CV1010151	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)	ALG9 congenital disorder of glycosylation [RCV001322817]\|not provided [RCV003883608]	likely benign\|uncertain significance	12	123756897	123756897	Human	1	name
8642436	CV101419	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)	ALG9 congenital disorder of glycosylation [RCV001516703]\|Cutis laxa with osteodystrophy [RCV000374481]\|Wrinkly skin syndrome [RCV001554140]\|not provided [RCV004706498]\|not specified [RCV000081547]	benign	12	123744882	123744882	Human	3	name , alternate_id
127327497	CV1143201	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=)	ALG9 congenital disorder of glycosylation [RCV001506653]	likely benign	12	123754494	123754494	Human	1	name
150332437	CV1172372	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=)	ALG9 congenital disorder of glycosylation [RCV002071944]\|not provided [RCV001539035]	likely benign	12	123751145	123751145	Human	1	name
150426214	CV1184648	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=)	ALG9 congenital disorder of glycosylation [RCV002072115]\|not provided [RCV001559066]	likely benign	12	123752393	123752393	Human	1	name
150497980	CV1208845	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=)	ALG9 congenital disorder of glycosylation [RCV002592496]\|not provided [RCV001594062]\|not specified [RCV004526137]	likely benign	12	123754488	123754488	Human	1	name
150531737	CV1302012	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2505C>T (p.Thr835=)	not provided [RCV001757230]	uncertain significance	12	123757966	123757966	Human		name
151875653	CV1405857	single nucleotide variant	NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val)	ALG9 congenital disorder of glycosylation [RCV001981867]	uncertain significance	12	123722417	123722417	Human	1	name
151725011	CV1452150	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=)	ALG9 congenital disorder of glycosylation [RCV002040571]	uncertain significance	12	123757963	123757963	Human	1	name
151722750	CV1500103	single nucleotide variant	NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)	ALG9 congenital disorder of glycosylation [RCV001909964]\|Inborn genetic diseases [RCV004042787]	uncertain significance	12	123722445	123722445	Human	2	name
152115814	CV1526332	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=)	ALG9 congenital disorder of glycosylation [RCV002174911]	likely benign	12	123747693	123747693	Human	1	name
152105008	CV1536615	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=)	ALG9 congenital disorder of glycosylation [RCV002173595]	likely benign	12	123743904	123743904	Human	1	name
152093138	CV1567923	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=)	ALG9 congenital disorder of glycosylation [RCV002213004]	likely benign	12	123748713	123748713	Human	1	name
8555839	CV15884	single nucleotide variant	NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	ALG9 congenital disorder of glycosylation [RCV003502506]\|Cutis laxa [RCV004579513]\|Cutis laxa with osteodystrophy [RCV000000888]\|Cutis laxa with osteodystrophy [RCV005007801]\|not provided [RCV000790836]	pathogenic	12	123718692	123718692	Human	4	name , alternate_id
155644736	CV1710368	single nucleotide variant	NM_012463.4(ATP6V0A2):c.128A>G (p.Asn43Ser)	not provided [RCV002293664]	uncertain significance	12	123718633	123718633	Human		name
156018567	CV1882076	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)	ALG9 congenital disorder of glycosylation [RCV003077499]	uncertain significance	12	123757951	123757951	Human	1	name
156018659	CV1882083	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)	ALG9 congenital disorder of glycosylation [RCV003077504]	likely benign	12	123744707	123744707	Human	1	name
156309617	CV1895229	single nucleotide variant	NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)	ALG9 congenital disorder of glycosylation [RCV003088363]\|not provided [RCV004820271]	uncertain significance	12	123718693	123718693	Human	1	name
156093014	CV1909900	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)	ALG9 congenital disorder of glycosylation [RCV002591980]	likely benign	12	123744761	123744761	Human	1	name
156418013	CV1914307	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)	ALG9 congenital disorder of glycosylation [RCV002611185]	likely benign	12	123751115	123751115	Human	1	name
10050504	CV192025	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	ALG9 congenital disorder of glycosylation [RCV001087624]\|ATP6V0A2-related disorder [RCV003907567]\|Cutis Laxa, Recessive [RCV000364298]\|not provided [RCV000724863]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123754473	123754473	Human	2	name , trait , alternate_id
156352929	CV1923731	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)	ALG9 congenital disorder of glycosylation [RCV002651034]	likely benign	12	123754474	123754474	Human	1	name
156035069	CV1932658	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)	ALG9 congenital disorder of glycosylation [RCV002637335]	likely benign	12	123743874	123743874	Human	1	name
156419403	CV1932768	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)	ALG9 congenital disorder of glycosylation [RCV002612635]	likely benign	12	123748782	123748782	Human	1	name
156445298	CV1945301	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)	ALG9 congenital disorder of glycosylation [RCV003116238]	likely benign	12	123751127	123751127	Human	1	name
156446669	CV1948020	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)	ALG9 congenital disorder of glycosylation [RCV003118181]\|ATP6V0A2-related disorder [RCV003936702]	likely benign	12	123752378	123752378	Human	1	name , trait , alternate_id
156127109	CV1962972	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)	ALG9 congenital disorder of glycosylation [RCV002572086]	likely benign	12	123754500	123754500	Human	1	name
156340184	CV1984808	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)	ALG9 congenital disorder of glycosylation [RCV002631391]	likely benign	12	123747675	123747675	Human	1	name
155919714	CV2027307	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)	ALG9 congenital disorder of glycosylation [RCV002750650]	likely benign	12	123747666	123747666	Human	1	name
156236096	CV2031506	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)	ALG9 congenital disorder of glycosylation [RCV002745495]	likely benign	12	123752294	123752294	Human	1	name
156210741	CV2032267	single nucleotide variant	NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)	ALG9 congenital disorder of glycosylation [RCV002711753]	uncertain significance	12	123722359	123722359	Human	1	name
155960151	CV2040414	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)	ALG9 congenital disorder of glycosylation [RCV002776227]	likely benign	12	123756909	123756909	Human	1	name
156273744	CV2046267	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)	ALG9 congenital disorder of glycosylation [RCV002770136]	likely benign	12	123756849	123756849	Human	1	name
10404442	CV207942	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)	ALG9 congenital disorder of glycosylation [RCV001088570]\|ATP6V0A2-related disorder [RCV003917736]\|Cutis laxa with osteodystrophy [RCV001109061]\|not provided [RCV000871111]\|not specified [RCV000195070]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123754482	123754482	Human	2	name , trait , alternate_id
156311742	CV2087432	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)	ALG9 congenital disorder of glycosylation [RCV002857705]	likely benign	12	123744623	123744623	Human	1	name
156236540	CV2090222	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)	ALG9 congenital disorder of glycosylation [RCV002894758]	likely benign	12	123754467	123754467	Human	1	name
155915998	CV2091753	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)	ALG9 congenital disorder of glycosylation [RCV002903087]	likely benign	12	123743844	123743844	Human	1	name
155997379	CV2122661	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)	ALG9 congenital disorder of glycosylation [RCV002975016]	likely benign	12	123758002	123758002	Human	1	name
155943874	CV2130075	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)	ALG9 congenital disorder of glycosylation [RCV002971466]	likely benign	12	123744746	123744746	Human	1	name
156105353	CV2149362	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)	ALG9 congenital disorder of glycosylation [RCV003021197]	likely benign	12	123744322	123744322	Human	1	name
156042022	CV2188002	insertion	NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA	ALG9 congenital disorder of glycosylation [RCV003036605]	likely benign	12	123757910	123757911	Human	1	name
156204849	CV2401454	deletion	NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)	Cutis laxa with osteodystrophy [RCV002789998]	likely pathogenic	12	123712581	123712584	Human	1	name , alternate_id
329353681	CV2467056	single nucleotide variant	NM_012463.4(ATP6V0A2):c.170G>C (p.Arg57Thr)	Inborn genetic diseases [RCV003201447]	uncertain significance	12	123718675	123718675	Human	1	name
329351543	CV2476550	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=)	not provided [RCV003222782]	likely benign	12	123744230	123744230	Human		name
11639257	CV270347	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)	ALG9 congenital disorder of glycosylation [RCV002059192]\|not provided [RCV000317767]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123744728	123744728	Human	1	name
11643753	CV270351	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)	ALG9 congenital disorder of glycosylation [RCV001088720]\|ATP6V0A2-related disorder [RCV003957452]\|not provided [RCV000399908]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123744888	123744888	Human	1	name , trait , alternate_id
401740768	CV2738754	single nucleotide variant	NM_012463.4(ATP6V0A2):c.230T>G (p.Ile77Ser)	not provided [RCV003318148]	uncertain significance	12	123722384	123722384	Human		name
401934083	CV2817058	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=)	not provided [RCV003410942]	likely benign	12	123743898	123743898	Human		name
402467743	CV2877946	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)	ALG9 congenital disorder of glycosylation [RCV003503657]	likely benign	12	123747678	123747678	Human	1	name
402470767	CV2894025	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)	ALG9 congenital disorder of glycosylation [RCV003504459]	likely benign	12	123744680	123744680	Human	1	name
405133079	CV2897530	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)	ALG9 congenital disorder of glycosylation [RCV003502354]	likely benign	12	123756891	123756891	Human	1	name
405036005	CV2946242	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)	ALG9 congenital disorder of glycosylation [RCV003609317]	likely benign	12	123744725	123744725	Human	1	name
405036701	CV2947517	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)	ALG9 congenital disorder of glycosylation [RCV003609378]	likely benign	12	123756969	123756969	Human	1	name
405036881	CV2947943	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)	ALG9 congenital disorder of glycosylation [RCV003609394]	likely benign	12	123748605	123748605	Human	1	name
405043909	CV2963286	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)	ALG9 congenital disorder of glycosylation [RCV003610013]	likely benign	12	123748626	123748626	Human	1	name
405045909	CV2965876	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)	ALG9 congenital disorder of glycosylation [RCV003610157]	likely benign	12	123747616	123747616	Human	1	name
405049028	CV2982812	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)	ALG9 congenital disorder of glycosylation [RCV003610370]	likely benign	12	123744259	123744259	Human	1	name
405032701	CV3010956	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)	ALG9 congenital disorder of glycosylation [RCV003609000]	likely benign	12	123748680	123748680	Human	1	name
405032355	CV3012607	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)	ALG9 congenital disorder of glycosylation [RCV003608898]	likely benign	12	123747640	123747640	Human	1	name
405032876	CV3014238	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)	ALG9 congenital disorder of glycosylation [RCV003609016]	likely benign	12	123744743	123744743	Human	1	name
405055602	CV3052761	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)	ALG9 congenital disorder of glycosylation [RCV003610912]	likely benign	12	123758014	123758014	Human	1	name
405056208	CV3057488	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)	ALG9 congenital disorder of glycosylation [RCV003610955]	likely benign	12	123757933	123757933	Human	1	name
405039754	CV3061353	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)	ALG9 congenital disorder of glycosylation [RCV003609644]\|ATP6V0A2-related disorder [RCV003929324]	likely benign	12	123744632	123744632	Human	1	name , trait , alternate_id
405040607	CV3062856	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)	ALG9 congenital disorder of glycosylation [RCV003609738]	likely benign	12	123744677	123744677	Human	1	name
405043570	CV3070627	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)	ALG9 congenital disorder of glycosylation [RCV003609810]	likely benign	12	123748617	123748617	Human	1	name
405042387	CV3071573	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)	ALG9 congenital disorder of glycosylation [RCV003609897]	likely benign	12	123754533	123754533	Human	1	name
405043266	CV3077512	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)	ALG9 congenital disorder of glycosylation [RCV003609965]	likely benign	12	123744256	123744256	Human	1	name
405191799	CV3149781	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)	ALG9 congenital disorder of glycosylation [RCV003843507]	likely benign	12	123751208	123751208	Human	1	name
402494875	CV3183034	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)	ALG9 congenital disorder of glycosylation [RCV003877342]	likely benign	12	123752324	123752324	Human	1	name
405272680	CV3197487	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1764C>T (p.Ile588=)	ATP6V0A2-related disorder [RCV003901456]	likely benign	12	123748614	123748614	Human		name , trait , alternate_id
405269079	CV3201230	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1986C>G (p.Val662=)	ATP6V0A2-related disorder [RCV003899336]	likely benign	12	123751160	123751160	Human		name , trait , alternate_id
405291769	CV3206061	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2388C>T (p.Leu796=)	ALG9 congenital disorder of glycosylation [RCV005064889]\|ATP6V0A2-related disorder [RCV003964148]	likely benign	12	123756909	123756909	Human	1	name , trait , alternate_id
405289448	CV3218224	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1281G>A (p.Leu427=)	ATP6V0A2-related disorder [RCV003983626]	likely benign	12	123744292	123744292	Human		name , trait , alternate_id
11600008	CV323632	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=)	ALG9 congenital disorder of glycosylation [RCV003765807]\|Cutis laxa with osteodystrophy [RCV000270186]	uncertain significance	12	123737271	123737271	Human	2	name , alternate_id
11609216	CV323662	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=)	ALG9 congenital disorder of glycosylation [RCV000872370]\|Cutis laxa with osteodystrophy [RCV000365310]\|not specified [RCV000434512]	benign\|likely benign	12	123748722	123748722	Human	2	name , alternate_id
11611951	CV323664	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	ALG9 congenital disorder of glycosylation [RCV000865321]\|Cutis laxa with osteodystrophy [RCV000401678]\|not provided [RCV001718625]	benign\|likely benign\|uncertain significance	12	123751188	123751188	Human	2	name , alternate_id
11620280	CV329783	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)	ALG9 congenital disorder of glycosylation [RCV000557036]\|ATP6V0A2-related disorder [RCV004757203]\|Cutis laxa with osteodystrophy [RCV000334860]\|not provided [RCV001705461]\|not specified [RCV000421499]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123744957	123744957	Human	2	name , trait , alternate_id
11612712	CV329789	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=)	ATP6V0A2-related disorder [RCV003940172]\|Cutis laxa with osteodystrophy [RCV000261650]	likely benign\|uncertain significance	12	123757966	123757966	Human	1	name , trait , alternate_id
11625388	CV331073	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)	ALG9 congenital disorder of glycosylation [RCV000873262]\|Cutis laxa with osteodystrophy [RCV000397995]\|not provided [RCV001697741]	benign\|likely benign\|uncertain significance	12	123747699	123747699	Human	2	name , alternate_id
8566954	CV34354	deletion	NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)	Cutis laxa with osteodystrophy [RCV000020691]	pathogenic\|not provided	12	123737072	123737072	Human	1	name , alternate_id
408381880	CV3524032	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=)	not provided [RCV004766430]	uncertain significance	12	123743862	123743862	Human		name
597702179	CV3713827	single nucleotide variant	NM_012463.4(ATP6V0A2):c.124C>T (p.Gln42Ter)	Cutis laxa with osteodystrophy [RCV005008883]	likely pathogenic	12	123718629	123718629	Human	1	name , alternate_id
597702201	CV3713829	single nucleotide variant	NM_012463.4(ATP6V0A2):c.208C>T (p.Gln70Ter)	Cutis laxa with osteodystrophy [RCV005008885]	likely pathogenic	12	123722362	123722362	Human	1	name , alternate_id
12836454	CV372612	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)	ALG9 congenital disorder of glycosylation [RCV002521753]\|not specified [RCV000423417]	likely benign	12	123744722	123744722	Human	1	name
597888218	CV3739232	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1101C>T (p.Pro367=)	ALG9 congenital disorder of glycosylation [RCV005070779]	likely benign	12	123743847	123743847	Human	1	name
12835225	CV374655	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=)	ALG9 congenital disorder of glycosylation [RCV002063336]\|ATP6V0A2-related disorder [RCV003902573]\|not provided [RCV003884527]\|not specified [RCV000421320]	likely benign	12	123744755	123744755	Human	1	name , trait , alternate_id
12834790	CV374657	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=)	ALG9 congenital disorder of glycosylation [RCV002525504]\|not specified [RCV000420559]	likely benign	12	123756829	123756829	Human	1	name
597843869	CV3752504	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2127G>A (p.Glu709=)	ALG9 congenital disorder of glycosylation [RCV005086910]	likely benign	12	123752354	123752354	Human	1	name
597899999	CV3771147	single nucleotide variant	NM_012463.4(ATP6V0A2):c.112C>T (p.Arg38Ter)	ALG9 congenital disorder of glycosylation [RCV005112112]	pathogenic	12	123712677	123712677	Human	1	name
597971989	CV3798954	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2277T>C (p.Leu759=)	ALG9 congenital disorder of glycosylation [RCV005142366]	likely benign	12	123754521	123754521	Human	1	name
597960295	CV3815528	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2154T>C (p.Cys718=)	ALG9 congenital disorder of glycosylation [RCV005163461]	likely benign	12	123752381	123752381	Human	1	name
597871571	CV3835711	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1101C>G (p.Pro367=)	ALG9 congenital disorder of glycosylation [RCV005176702]	likely benign	12	123743847	123743847	Human	1	name
597904443	CV3856374	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1644C>T (p.Asn548=)	ALG9 congenital disorder of glycosylation [RCV005202602]	likely benign	12	123747645	123747645	Human	1	name
617152998	CV4020784	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2478G>A (p.Gln826=)	not provided [RCV005428537]	likely benign	12	123757939	123757939	Human		name
13538225	CV503597	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=)	ALG9 congenital disorder of glycosylation [RCV003767631]\|not provided [RCV000611514]	likely benign	12	123756888	123756888	Human	1	name
13540830	CV504166	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)	ALG9 congenital disorder of glycosylation [RCV002529481]\|not specified [RCV000615259]	likely benign	12	123744226	123744226	Human	1	name
13532976	CV504171	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)	ALG9 congenital disorder of glycosylation [RCV002064269]\|not provided [RCV001698098]	benign\|likely benign	12	123756861	123756861	Human	1	name
13535700	CV504554	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=)	ALG9 congenital disorder of glycosylation [RCV002531503]\|not specified [RCV000607960]	likely benign	12	123757930	123757930	Human	1	name
13808233	CV577256	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)	ALG9 congenital disorder of glycosylation [RCV003609167]\|not provided [RCV000710655]	likely benign\|uncertain significance	12	123737247	123737247	Human	1	name
14741230	CV656110	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=)	ALG9 congenital disorder of glycosylation [RCV001088794]\|ATP6V0A2-related disorder [RCV003948030]\|not provided [RCV000840694]	benign\|likely benign	12	123743874	123743874	Human	1	name , trait , alternate_id
14743827	CV656111	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=)	ALG9 congenital disorder of glycosylation [RCV002068616]\|ATP6V0A2-related disorder [RCV004757292]\|not provided [RCV000842332]	likely benign	12	123744205	123744205	Human	1	name , trait , alternate_id
14708147	CV656112	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2148T>C (p.Asp716=)	not provided [RCV000827053]	likely benign	12	123752375	123752375	Human		name
15159371	CV738523	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=)	ALG9 congenital disorder of glycosylation [RCV003502564]	likely benign	12	123743811	123743811	Human	1	name
15114586	CV738524	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=)	ALG9 congenital disorder of glycosylation [RCV001416611]	likely benign	12	123747666	123747666	Human	1	name
15142195	CV738525	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=)	ALG9 congenital disorder of glycosylation [RCV002537524]	likely benign	12	123748698	123748698	Human	1	name
15151803	CV753179	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1164C>T (p.Val388=)	ALG9 congenital disorder of glycosylation [RCV005092770]	likely benign	12	123743910	123743910	Human	1	name
15198659	CV753180	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=)	ALG9 congenital disorder of glycosylation [RCV002065825]	likely benign	12	123754518	123754518	Human	1	name
15138355	CV753181	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=)	not provided [RCV000921318]	likely benign	12	123756879	123756879	Human		name
15158534	CV753182	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=)	not provided [RCV000925090]	likely benign	12	123756903	123756903	Human		name
15195567	CV753183	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=)	ALG9 congenital disorder of glycosylation [RCV002065808]	likely benign	12	123758017	123758017	Human	1	name
15126668	CV753184	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=)	ALG9 congenital disorder of glycosylation [RCV003502572]	likely benign	12	123758020	123758020	Human	1	name
15102531	CV768929	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=)	ALG9 congenital disorder of glycosylation [RCV001493530]	likely benign	12	123748776	123748776	Human	1	name
15129051	CV768930	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=)	ALG9 congenital disorder of glycosylation [RCV001482854]\|not provided [RCV000941816]	likely benign	12	123751217	123751217	Human	1	name
15111535	CV768931	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=)	not provided [RCV000938768]	likely benign	12	123754464	123754464	Human		name
21074386	CV796711	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=)	ALG9 congenital disorder of glycosylation [RCV002068720]\|not provided [RCV000995003]	likely benign\|uncertain significance	12	123756841	123756841	Human	1	name
28869893	CV869488	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)	ALG9 congenital disorder of glycosylation [RCV003502588]\|Cutis laxa with osteodystrophy [RCV001113316]	likely benign\|uncertain significance	12	123744334	123744334	Human	2	name , alternate_id
28872746	CV869490	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)	ALG9 congenital disorder of glycosylation [RCV002069848]\|Cutis laxa with osteodystrophy [RCV001114686]\|not provided [RCV001561688]	likely benign\|uncertain significance	12	123744891	123744891	Human	2	name , alternate_id
28911953	CV869491	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=)	Cutis laxa with osteodystrophy [RCV001111401]	uncertain significance	12	123756933	123756933	Human	1	name , alternate_id
28911954	CV869492	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)	ALG9 congenital disorder of glycosylation [RCV003609178]\|Cutis laxa with osteodystrophy [RCV001111402]	likely benign\|uncertain significance	12	123756960	123756960	Human	2	name , alternate_id
150420206	CV1180956	single nucleotide variant	NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)	ALG9 congenital disorder of glycosylation [RCV001859371]\|Cutis laxa with osteodystrophy [RCV002476854]\|Cutis laxa with osteodystrophy [RCV005369912]\|Inborn genetic diseases [RCV002570691]\|not provided [RCV001551431]	uncertain significance	12	123727800	123727800	Human	3	name , alternate_id
150465680	CV1201116	single nucleotide variant	NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu)	ALG9 congenital disorder of glycosylation [RCV002573276]\|not provided [RCV001587596]	uncertain significance	12	123737101	123737101	Human	1	name
150450697	CV1232709	deletion	NM_012463.4(ATP6V0A2):c.2293+168_2293+171del	not provided [RCV001647784]	benign	12	123754702	123754705	Human		name
150431387	CV1243679	single nucleotide variant	NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys)	ALG9 congenital disorder of glycosylation [RCV001882750]\|Inborn genetic diseases [RCV002538535]\|not provided [RCV001663299]	uncertain significance	12	123737110	123737110	Human	2	name
150532811	CV1293686	single nucleotide variant	NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	ALG9 congenital disorder of glycosylation [RCV001882830]\|Cutis laxa with osteodystrophy [RCV002496074]\|Inborn genetic diseases [RCV004968244]\|not provided [RCV001757963]	uncertain significance	12	123724781	123724781	Human	3	name , alternate_id
150540732	CV1296130	single nucleotide variant	NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)	ALG9 congenital disorder of glycosylation [RCV002538811]\|not provided [RCV001760599]	uncertain significance	12	123733935	123733935	Human	1	name
150545824	CV1296933	single nucleotide variant	NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu)	ALG9 congenital disorder of glycosylation [RCV002544047]\|not provided [RCV001763224]	uncertain significance	12	123726199	123726199	Human	1	name
150530856	CV1299143	single nucleotide variant	NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)	ALG9 congenital disorder of glycosylation [RCV001868453]\|Cutis laxa with osteodystrophy [RCV002477953]\|Inborn genetic diseases [RCV002544073]\|not provided [RCV001756836]	uncertain significance	12	123737116	123737116	Human	3	name , alternate_id
150549790	CV1299876	single nucleotide variant	NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His)	not provided [RCV001765345]\|not specified [RCV001825022]	uncertain significance	12	123735605	123735605	Human		name
150527998	CV1301018	single nucleotide variant	NM_012463.4(ATP6V0A2):c.576G>T (p.Leu192Phe)	not provided [RCV001754878]	uncertain significance	12	123727837	123727837	Human		name
150536669	CV1314108	single nucleotide variant	NM_012463.4(ATP6V0A2):c.987G>A (p.Trp329Ter)	not provided [RCV001780626]	pathogenic\|likely pathogenic	12	123737220	123737220	Human		name
150536728	CV1314240	deletion	NM_012463.4(ATP6V0A2):c.1214del (p.Pro405fs)	not provided [RCV001780665]	likely pathogenic	12	123744223	123744223	Human		name
151233113	CV1317716	single nucleotide variant	NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)	ALG9 congenital disorder of glycosylation [RCV002034632]\|Cutis laxa with osteodystrophy [RCV003147679]\|Inborn genetic diseases [RCV004040837]\|not provided [RCV001787482]	uncertain significance	12	123737227	123737227	Human	3	name , alternate_id
151235001	CV1318260	single nucleotide variant	NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg)	ALG9 congenital disorder of glycosylation [RCV002544318]\|not provided [RCV001794583]	uncertain significance	12	123735617	123735617	Human	1	name
151729276	CV1335339	single nucleotide variant	NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile)	Inborn genetic diseases [RCV003163994]\|not specified [RCV001844657]	uncertain significance	12	123724769	123724769	Human	1	name
151890774	CV1350643	single nucleotide variant	NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala)	ALG9 congenital disorder of glycosylation [RCV002038902]	uncertain significance	12	123724768	123724768	Human	1	name
151715399	CV1355108	single nucleotide variant	NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys)	ALG9 congenital disorder of glycosylation [RCV001965133]	uncertain significance	12	123737120	123737120	Human	1	name
151711839	CV1401432	single nucleotide variant	NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu)	ALG9 congenital disorder of glycosylation [RCV001964458]	uncertain significance	12	123737089	123737089	Human	1	name
153305655	CV1688710	single nucleotide variant	NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu)	not specified [RCV002266449]	uncertain significance	12	123724657	123724657	Human		name
156047577	CV1868817	single nucleotide variant	NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)	ALG9 congenital disorder of glycosylation [RCV003052884]	uncertain significance	12	123724765	123724765	Human	1	name
156018142	CV1914690	single nucleotide variant	NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)	ALG9 congenital disorder of glycosylation [RCV002636574]\|Inborn genetic diseases [RCV002620333]	uncertain significance	12	123735604	123735604	Human	2	name
156155928	CV1926198	single nucleotide variant	NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)	ALG9 congenital disorder of glycosylation [RCV002624180]	uncertain significance	12	123733998	123733998	Human	1	name
156395817	CV1928072	single nucleotide variant	NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)	ALG9 congenital disorder of glycosylation [RCV002654898]\|not provided [RCV004775309]	uncertain significance	12	123727818	123727818	Human	1	name
10048732	CV194452	single nucleotide variant	NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter)	not provided [RCV000178289]	pathogenic	12	123724663	123724663	Human		name
156442462	CV1945274	single nucleotide variant	NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)	ALG9 congenital disorder of glycosylation [RCV003112807]	uncertain significance	12	123724741	123724741	Human	1	name
156326012	CV1972706	single nucleotide variant	NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)	ALG9 congenital disorder of glycosylation [RCV002600530]\|not provided [RCV003443063]	uncertain significance	12	123735568	123735568	Human	1	name
156090899	CV1984062	single nucleotide variant	NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)	ALG9 congenital disorder of glycosylation [RCV002621855]	uncertain significance	12	123733945	123733945	Human	1	name
156114910	CV1985894	single nucleotide variant	NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)	ALG9 congenital disorder of glycosylation [RCV002622721]\|not provided [RCV004763443]	uncertain significance	12	123734005	123734005	Human	1	name
156330271	CV1992766	single nucleotide variant	NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)	ALG9 congenital disorder of glycosylation [RCV002649779]	uncertain significance	12	123727825	123727825	Human	1	name
156297244	CV2005439	single nucleotide variant	NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)	ALG9 congenital disorder of glycosylation [RCV002671002]	uncertain significance	12	123724732	123724732	Human	1	name
156067960	CV2054633	single nucleotide variant	NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)	ALG9 congenital disorder of glycosylation [RCV002797313]	pathogenic	12	123724661	123724661	Human	1	name
156238726	CV2119370	single nucleotide variant	NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)	ALG9 congenital disorder of glycosylation [RCV002958790]\|Cutis laxa with osteodystrophy [RCV004725432]\|Inborn genetic diseases [RCV002962036]	likely benign\|uncertain significance	12	123737209	123737209	Human	3	name , alternate_id
155993174	CV2145582	single nucleotide variant	NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)	ALG9 congenital disorder of glycosylation [RCV002996662]	uncertain significance	12	123737195	123737195	Human	1	name
156296586	CV2149300	single nucleotide variant	NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)	ALG9 congenital disorder of glycosylation [RCV003010191]	uncertain significance	12	123724729	123724729	Human	1	name
156304390	CV2187899	single nucleotide variant	NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)	ALG9 congenital disorder of glycosylation [RCV003062114]	uncertain significance	12	123733956	123733956	Human	1	name
156167604	CV2373711	single nucleotide variant	NM_012463.4(ATP6V0A2):c.472G>A (p.Asp158Asn)	Inborn genetic diseases [RCV002698637]\|not provided [RCV004765741]	uncertain significance	12	123726236	123726236	Human	1	name
156451277	CV2402670	deletion	NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)	Cutis laxa [RCV003123476]	likely pathogenic	12	123756914	123756914	Human	2	name
401735552	CV2699297	single nucleotide variant	NM_012463.4(ATP6V0A2):c.803C>G (p.Thr268Ser)	Inborn genetic diseases [RCV003291090]	uncertain significance	12	123735602	123735602	Human	1	name
401718582	CV2704676	single nucleotide variant	NM_012463.4(ATP6V0A2):c.979G>C (p.Glu327Gln)	Inborn genetic diseases [RCV003266578]	uncertain significance	12	123737212	123737212	Human	1	name
11637618	CV270542	single nucleotide variant	NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys)	ALG9 congenital disorder of glycosylation [RCV002519224]\|Cutis laxa with osteodystrophy [RCV005365226]\|Inborn genetic diseases [RCV005286052]\|not provided [RCV000289008]	uncertain significance	12	123733929	123733929	Human	3	name , alternate_id
402464627	CV2854136	single nucleotide variant	NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)	ALG9 congenital disorder of glycosylation [RCV003502815]	uncertain significance	12	123724772	123724772	Human	1	name
402467729	CV2877685	single nucleotide variant	NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)	ALG9 congenital disorder of glycosylation [RCV003503653]	uncertain significance	12	123737126	123737126	Human	1	name
405038516	CV2953074	single nucleotide variant	NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)	ALG9 congenital disorder of glycosylation [RCV003609476]	pathogenic	12	123733943	123733943	Human	1	name
405046146	CV2969429	deletion	NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)	ALG9 congenital disorder of glycosylation [RCV003610175]	pathogenic	12	123744970	123744970	Human	1	name
407474963	CV3042733	deletion	NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)	Cutis laxa with osteodystrophy [RCV004690466]	likely pathogenic	12	123743792	123743792	Human	1	name , alternate_id
405053540	CV3151335	deletion	NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)	ALG9 congenital disorder of glycosylation [RCV003849744]	pathogenic	12	123756825	123756825	Human	1	name
405204196	CV3165223	single nucleotide variant	NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)	ALG9 congenital disorder of glycosylation [RCV003861084]	pathogenic	12	123737110	123737110	Human	1	name
405666977	CV3297636	single nucleotide variant	NM_012463.4(ATP6V0A2):c.427G>A (p.Val143Ile)	Inborn genetic diseases [RCV004418714]	uncertain significance	12	123724786	123724786	Human	1	name
405666982	CV3297637	single nucleotide variant	NM_012463.4(ATP6V0A2):c.598A>G (p.Thr200Ala)	Inborn genetic diseases [RCV004418715]	uncertain significance	12	123727859	123727859	Human	1	name
11614895	CV331050	single nucleotide variant	NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)	ALG9 congenital disorder of glycosylation [RCV001348420]\|Cutis laxa with osteodystrophy [RCV000280712]\|Cutis laxa with osteodystrophy [RCV000763801]\|Inborn genetic diseases [RCV004965395]\|not provided [RCV000767074]\|not specified [RCV000439999]	uncertain significance	12	123724668	123724668	Human	3	name , alternate_id
11618184	CV331071	single nucleotide variant	NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	ALG9 congenital disorder of glycosylation [RCV000872211]\|Cutis laxa with osteodystrophy [RCV000310903]\|Cutis laxa with osteodystrophy [RCV000763803]\|Inborn genetic diseases [RCV004021535]\|not provided [RCV001705460]\|not specified [RCV000493630]	likely benign\|uncertain significance	12	123727875	123727875	Human	3	name , alternate_id
11613721	CV331072	single nucleotide variant	NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu)	ALG9 congenital disorder of glycosylation [RCV001850627]\|Cutis laxa with osteodystrophy [RCV000271126]	uncertain significance	12	123735593	123735593	Human	2	name , alternate_id
407428123	CV3410076	single nucleotide variant	NM_012463.4(ATP6V0A2):c.313G>A (p.Glu105Lys)	Inborn genetic diseases [RCV004676345]\|not provided [RCV005412668]\|not specified [RCV004587684]	uncertain significance	12	123724672	123724672	Human	1	name
8566947	CV34347	deletion	NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)	Cutis laxa with osteodystrophy [RCV000020684]	pathogenic\|likely pathogenic	12	123748779	123748779	Human	1	name , alternate_id
407528189	CV3489050	single nucleotide variant	NM_012463.4(ATP6V0A2):c.654A>C (p.Glu218Asp)	Inborn genetic diseases [RCV004680293]	uncertain significance	12	123733931	123733931	Human	1	name
407528191	CV3489051	single nucleotide variant	NM_012463.4(ATP6V0A2):c.874G>A (p.Ala292Thr)	Inborn genetic diseases [RCV004680294]	uncertain significance	12	123737107	123737107	Human	1	name
408388340	CV3520735	single nucleotide variant	NM_012463.4(ATP6V0A2):c.466G>C (p.Glu156Gln)	not provided [RCV004761568]	uncertain significance	12	123726230	123726230	Human		name
408388715	CV3529048	single nucleotide variant	NM_012463.4(ATP6V0A2):c.724T>G (p.Cys242Gly)	not provided [RCV004773870]	uncertain significance	12	123734001	123734001	Human		name
596931167	CV3531500	deletion	NM_012463.4(ATP6V0A2):c.1236del (p.Phe412fs)	not provided [RCV004781062]	pathogenic	12	123744245	123744245	Human		name
597628626	CV3610525	single nucleotide variant	NM_012463.4(ATP6V0A2):c.946A>G (p.Ser316Gly)	Inborn genetic diseases [RCV004966891]	uncertain significance	12	123737179	123737179	Human	1	name
597702211	CV3713830	single nucleotide variant	NM_012463.4(ATP6V0A2):c.726T>A (p.Cys242Ter)	Cutis laxa with osteodystrophy [RCV005008886]	likely pathogenic	12	123734003	123734003	Human	1	name , alternate_id
597702270	CV3713834	deletion	NM_012463.4(ATP6V0A2):c.2442del (p.Leu815fs)	Cutis laxa with osteodystrophy [RCV005008891]	likely pathogenic	12	123756961	123756961	Human	1	name , alternate_id
12840658	CV371874	single nucleotide variant	NM_012463.4(ATP6V0A2):c.968G>A (p.Cys323Tyr)	not provided [RCV000431133]	uncertain significance	12	123737201	123737201	Human		name
12842606	CV372608	single nucleotide variant	NM_012463.4(ATP6V0A2):c.604G>A (p.Val202Met)	Inborn genetic diseases [RCV004965452]\|not provided [RCV000434722]	uncertain significance	12	123727865	123727865	Human	1	name
12835708	CV372878	single nucleotide variant	NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)	ALG9 congenital disorder of glycosylation [RCV000797679]\|not provided [RCV000422153]	uncertain significance	12	123726279	123726279	Human	1	name
597719625	CV3733525	single nucleotide variant	NM_012463.4(ATP6V0A2):c.743A>G (p.His248Arg)	not provided [RCV005052715]	uncertain significance	12	123735542	123735542	Human		name
12836300	CV374645	single nucleotide variant	NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	ALG9 congenital disorder of glycosylation [RCV001861625]\|Cutis laxa with osteodystrophy [RCV000763802]\|Cutis laxa with osteodystrophy [RCV001113218]\|not provided [RCV000729905]\|not specified [RCV000423155]	likely benign\|uncertain significance	12	123724781	123724781	Human	2	name , alternate_id
597971464	CV3750735	single nucleotide variant	NM_012463.4(ATP6V0A2):c.826G>C (p.Val276Leu)	ALG9 congenital disorder of glycosylation [RCV005084479]	uncertain significance	12	123737059	123737059	Human	1	name
597965853	CV3793820	single nucleotide variant	NM_012463.4(ATP6V0A2):c.986G>A (p.Trp329Ter)	ALG9 congenital disorder of glycosylation [RCV005140202]	pathogenic	12	123737219	123737219	Human	1	name
598176537	CV3924195	single nucleotide variant	NM_012463.4(ATP6V0A2):c.425A>G (p.Asn142Ser)	Inborn genetic diseases [RCV005285654]	uncertain significance	12	123724784	123724784	Human	1	name
617152698	CV4020936	single nucleotide variant	NM_012463.4(ATP6V0A2):c.391A>G (p.Met131Val)	not provided [RCV005428689]	uncertain significance	12	123724750	123724750	Human		name
12900843	CV408545	single nucleotide variant	NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)	ALG9 congenital disorder of glycosylation [RCV002526950]\|ATP6V0A2-related disorder [RCV003915336]\|not provided [RCV000483300]	likely benign\|uncertain significance	12	123724747	123724747	Human	1	name , trait , alternate_id
12902524	CV408547	single nucleotide variant	NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)	ALG9 congenital disorder of glycosylation [RCV003766724]\|not provided [RCV000487324]	uncertain significance	12	123735563	123735563	Human	1	name
13216871	CV429403	single nucleotide variant	NM_012463.4(ATP6V0A2):c.548G>A (p.Gly183Glu)	not specified [RCV000504303]	uncertain significance	12	123727809	123727809	Human		name
13462118	CV438801	single nucleotide variant	NM_012463.4(ATP6V0A2):c.482T>G (p.Leu161Trp)	not provided [RCV000513755]	uncertain significance	12	123726246	123726246	Human		name
13473252	CV444941	single nucleotide variant	NM_012463.4(ATP6V0A2):c.588C>G (p.Cys196Trp)	not provided [RCV000519336]	uncertain significance	12	123727849	123727849	Human		name
13488939	CV444942	single nucleotide variant	NM_012463.4(ATP6V0A2):c.779G>A (p.Arg260Lys)	not provided [RCV000523731]	uncertain significance	12	123735578	123735578	Human		name
13808236	CV577255	single nucleotide variant	NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)	ALG9 congenital disorder of glycosylation [RCV001078886]\|ATP6V0A2-related disorder [RCV003965460]\|not provided [RCV000710656]	likely benign\|conflicting interpretations of pathogenicity	12	123735572	123735572	Human	1	name , trait , alternate_id
14396801	CV612941	single nucleotide variant	NM_012463.4(ATP6V0A2):c.892C>T (p.Arg298Cys)	not provided [RCV000761847]	uncertain significance	12	123737125	123737125	Human		name
14734038	CV640670	single nucleotide variant	NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)	ALG9 congenital disorder of glycosylation [RCV000818950]\|Inborn genetic diseases [RCV002535492]	uncertain significance	12	123735544	123735544	Human	2	name
26898884	CV839379	single nucleotide variant	NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)	ALG9 congenital disorder of glycosylation [RCV001070793]	uncertain significance	12	123733929	123733929	Human	1	name
26917722	CV839380	duplication	NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)	ALG9 congenital disorder of glycosylation [RCV001042830]	pathogenic	12	123743804	123743805	Human	1	name
28872505	CV869482	single nucleotide variant	NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)	ALG9 congenital disorder of glycosylation [RCV001856507]\|Cutis laxa with osteodystrophy [RCV001114575]\|Inborn genetic diseases [RCV002558139]\|not provided [RCV001567082]	uncertain significance	12	123726204	123726204	Human	3	name , alternate_id
28910167	CV869483	single nucleotide variant	NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln)	ALG9 congenital disorder of glycosylation [RCV005093506]\|Cutis laxa with osteodystrophy [RCV001108951]\|not provided [RCV001580565]	uncertain significance	12	123735575	123735575	Human	2	name , alternate_id
28910169	CV869484	single nucleotide variant	NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met)	Cutis laxa with osteodystrophy [RCV001108952]	uncertain significance	12	123735585	123735585	Human	1	name , alternate_id
28910170	CV869485	single nucleotide variant	NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)	ALG9 congenital disorder of glycosylation [RCV001324109]\|Cutis laxa with osteodystrophy [RCV001108953]	uncertain significance	12	123735590	123735590	Human	2	name , alternate_id
28910171	CV869486	single nucleotide variant	NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)	ALG9 congenital disorder of glycosylation [RCV002556129]\|Cutis laxa with osteodystrophy [RCV001108954]\|Inborn genetic diseases [RCV003339512]\|not provided [RCV001537393]	uncertain significance	12	123735592	123735592	Human	3	name , alternate_id
28911880	CV869487	single nucleotide variant	NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)	ALG9 congenital disorder of glycosylation [RCV001856480]\|Cutis laxa with osteodystrophy [RCV001111306]\|not provided [RCV001664691]	uncertain significance	12	123737153	123737153	Human	2	name , alternate_id
42723844	CV983767	deletion	NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)	Cutis laxa with osteodystrophy [RCV001290340]	pathogenic	12	123737235	123737235	Human	1	name , alternate_id
126760568	CV994928	single nucleotide variant	NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)	ALG9 congenital disorder of glycosylation [RCV001299829]	uncertain significance	12	123737230	123737230	Human	1	name
126760359	CV1010150	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val)	ALG9 congenital disorder of glycosylation [RCV001318315]	uncertain significance	12	123744702	123744702	Human	1	name
8642432	CV101415	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)	ALG9 congenital disorder of glycosylation [RCV000536694]\|Cutis laxa with osteodystrophy [RCV000362304]\|not provided [RCV000224904]\|not specified [RCV000081543]	benign\|likely benign	12	123737249	123737249	Human	2	name , alternate_id
8642433	CV101416	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)	ALG9 congenital disorder of glycosylation [RCV001079902]\|Cutis laxa with osteodystrophy [RCV000283557]\|not provided [RCV000224475]\|not specified [RCV000081544]	benign\|likely benign	12	123743867	123743867	Human	2	name , alternate_id
8642434	CV101417	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)	ALG9 congenital disorder of glycosylation [RCV001079380]\|ATP6V0A2-related disorder [RCV003915081]\|Cutis laxa with osteodystrophy [RCV001113315]\|not provided [RCV000864597]\|not specified [RCV000081545]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123744269	123744269	Human	2	name , trait , alternate_id
8642437	CV101420	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)	ALG9 congenital disorder of glycosylation [RCV000538030]\|Cutis laxa with osteodystrophy [RCV000358680]\|not provided [RCV004706499]\|not specified [RCV000081549]	benign\|likely benign	12	123756959	123756959	Human	2	name , alternate_id
8642438	CV101421	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)	ALG9 congenital disorder of glycosylation [RCV001514987]\|Cutis laxa with osteodystrophy [RCV000371563]\|not provided [RCV004706500]\|not specified [RCV000081550]	benign\|uncertain significance	12	123758010	123758010	Human	4	name , alternate_id
8642438	CV101421	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)	ALG9 congenital disorder of glycosylation [RCV001514987]\|Cutis laxa with osteodystrophy [RCV000371563]\|not provided [RCV004706500]\|not specified [RCV000081550]	benign\|uncertain significance	12	123758010	123758011	Human	4	name , alternate_id
126744833	CV1021002	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)	ALG9 congenital disorder of glycosylation [RCV001865860]\|ATP6V0A2-related disorder [RCV004757411]\|Cutis laxa with osteodystrophy [RCV001337117]\|not provided [RCV004720861]	uncertain significance	12	123743858	123743858	Human	2	name , trait , alternate_id
127263585	CV1062593	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)	ALG9 congenital disorder of glycosylation [RCV001387990]	pathogenic	12	123754447	123754447	Human	1	name
127261682	CV1087366	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys)	Cutis laxa with osteodystrophy [RCV001420582]	uncertain significance	12	123751206	123751206	Human	1	name , alternate_id
150410199	CV1191358	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2186G>A (p.Gly729Glu)	not provided [RCV001565925]	uncertain significance	12	123754430	123754430	Human		name
150411081	CV1191359	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)	ALG9 congenital disorder of glycosylation [RCV001866001]\|not provided [RCV001566384]	uncertain significance	12	123756815	123756815	Human	1	name
150420112	CV1194632	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys)	ALG9 congenital disorder of glycosylation [RCV001866019]\|not provided [RCV001569974]	uncertain significance	12	123743857	123743857	Human	1	name
150415999	CV1198330	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)	ALG9 congenital disorder of glycosylation [RCV001882687]\|not provided [RCV001575645]	uncertain significance	12	123743872	123743872	Human	1	name
150529724	CV1292945	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2558A>G (p.Asp853Gly)	not provided [RCV001756338]	uncertain significance	12	123758019	123758019	Human		name
150540821	CV1298544	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu)	ALG9 congenital disorder of glycosylation [RCV002540311]\|Inborn genetic diseases [RCV002540310]\|not provided [RCV001760692]	uncertain significance	12	123748672	123748672	Human	2	name
150541437	CV1298791	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1355A>C (p.Tyr452Ser)	not provided [RCV001760939]	uncertain significance	12	123744625	123744625	Human		name
150534220	CV1300475	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2374C>T (p.Pro792Ser)	not provided [RCV001758603]	uncertain significance	12	123756895	123756895	Human		name
150552266	CV1301208	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)	ALG9 congenital disorder of glycosylation [RCV002544083]\|not provided [RCV001767618]	uncertain significance	12	123744627	123744627	Human	1	name
150555579	CV1304726	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1420A>G (p.Lys474Glu)	not provided [RCV001772974]	uncertain significance	12	123744690	123744690	Human		name
151354648	CV1327715	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1577G>A (p.Arg526Gln)	not specified [RCV001819190]	uncertain significance	12	123744944	123744944	Human		name
151662741	CV1333440	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys)	ALG9 congenital disorder of glycosylation [RCV002034704]\|not provided [RCV001837632]	uncertain significance	12	123737248	123737248	Human	1	name
151731125	CV1335338	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)	ALG9 congenital disorder of glycosylation [RCV001869869]\|not provided [RCV003883709]\|not specified [RCV001844656]	uncertain significance	12	123743803	123743803	Human	1	name
151864100	CV1336777	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1249C>T (p.His417Tyr)	not provided [RCV002034820]	likely pathogenic	12	123744260	123744260	Human		name
151811861	CV1349440	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala)	ALG9 congenital disorder of glycosylation [RCV001974852]	uncertain significance	12	123743845	123743845	Human	1	name
151802262	CV1351576	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys)	ALG9 congenital disorder of glycosylation [RCV001974013]\|Inborn genetic diseases [RCV004970689]\|not provided [RCV003225214]	uncertain significance	12	123743875	123743875	Human	2	name
151852422	CV1357166	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val)	ALG9 congenital disorder of glycosylation [RCV001904274]	uncertain significance	12	123756856	123756856	Human	1	name
151865027	CV1357560	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr)	ALG9 congenital disorder of glycosylation [RCV001905779]	uncertain significance	12	123743825	123743825	Human	1	name
151711197	CV1373537	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys)	ALG9 congenital disorder of glycosylation [RCV001889418]	uncertain significance	12	123748693	123748693	Human	1	name
151851673	CV1378187	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val)	ALG9 congenital disorder of glycosylation [RCV002016671]	uncertain significance	12	123744669	123744669	Human	1	name
151866321	CV1381391	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val)	ALG9 congenital disorder of glycosylation [RCV001905926]	uncertain significance	12	123747724	123747724	Human	1	name
151768283	CV1387900	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu)	ALG9 congenital disorder of glycosylation [RCV001970929]	uncertain significance	12	123744258	123744258	Human	1	name
151818906	CV1395288	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)	ALG9 congenital disorder of glycosylation [RCV001975534]\|not specified [RCV005238127]	uncertain significance	12	123744621	123744621	Human	1	name
151746918	CV1402999	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile)	ALG9 congenital disorder of glycosylation [RCV001912534]	uncertain significance	12	123743840	123743840	Human	1	name
151743981	CV1406815	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His)	ALG9 congenital disorder of glycosylation [RCV002006104]\|Inborn genetic diseases [RCV002592560]	uncertain significance	12	123751207	123751207	Human	2	name
151834487	CV1408332	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys)	ALG9 congenital disorder of glycosylation [RCV001935400]	uncertain significance	12	123756875	123756875	Human	1	name
151841176	CV1423704	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val)	ALG9 congenital disorder of glycosylation [RCV001977711]\|Inborn genetic diseases [RCV004681372]	uncertain significance	12	123752392	123752392	Human	2	name
151817297	CV1427393	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly)	ALG9 congenital disorder of glycosylation [RCV001878873]	uncertain significance	12	123744738	123744738	Human	1	name
151864163	CV1431507	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu)	ALG9 congenital disorder of glycosylation [RCV001924394]	uncertain significance	12	123737255	123737255	Human	1	name
151862362	CV1457987	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys)	ALG9 congenital disorder of glycosylation [RCV001938717]	uncertain significance	12	123751202	123751202	Human	1	name
151877516	CV1460199	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu)	ALG9 congenital disorder of glycosylation [RCV002036437]\|Inborn genetic diseases [RCV002549029]	uncertain significance	12	123743866	123743866	Human	2	name
151779047	CV1473652	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg)	ALG9 congenital disorder of glycosylation [RCV001864794]	uncertain significance	12	123751218	123751218	Human	1	name
151817202	CV1511410	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)	ALG9 congenital disorder of glycosylation [RCV001954397]\|Cutis laxa with osteodystrophy [RCV002479600]\|not provided [RCV003149012]	uncertain significance	12	123756848	123756848	Human	2	name , alternate_id
8555838	CV15883	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)	ALG9 congenital disorder of glycosylation [RCV005055499]\|Cutis laxa with osteodystrophy [RCV000000887]	pathogenic	12	123754537	123754537	Human	2	name , alternate_id
152156960	CV1668851	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu)	Cutis laxa with osteodystrophy [RCV005008482]\|not specified [RCV002223077]	likely pathogenic\|uncertain significance	12	123744225	123744225	Human	1	name , alternate_id
152980224	CV1675883	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln)	ALG9 congenital disorder of glycosylation [RCV003093949]\|not provided [RCV002244474]	uncertain significance	12	123743852	123743852	Human	1	name
153345711	CV1691352	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)	Cutis laxa with osteodystrophy [RCV002272834]	uncertain significance	12	123756962	123756962	Human	1	name , alternate_id
155267745	CV1705128	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)	ALG9 congenital disorder of glycosylation [RCV003097691]\|not provided [RCV002285733]	uncertain significance	12	123743816	123743816	Human	1	name
9692698	CV177270	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	ALG9 congenital disorder of glycosylation [RCV001088927]\|ATP6V0A2-related disorder [RCV003895048]\|Cutis laxa with osteodystrophy [RCV000322153]\|Inborn genetic diseases [RCV003338429]\|not provided [RCV000723907]\|not specified [RCV000194414]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123744756	123744756	Human	3	name , trait , alternate_id
155672726	CV1774054	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)	ALG9 congenital disorder of glycosylation [RCV002297610]	uncertain significance	12	123754450	123754450	Human	1	name
155737667	CV1774602	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)	ALG9 congenital disorder of glycosylation [RCV002302058]	uncertain significance	12	123744320	123744320	Human	1	name
155692615	CV1775252	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)	ALG9 congenital disorder of glycosylation [RCV002299395]	uncertain significance	12	123751189	123751189	Human	1	name
155720264	CV1781238	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1493A>G (p.His498Arg)	not provided [RCV002306314]	uncertain significance	12	123744763	123744763	Human		name
156390662	CV1872686	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)	ALG9 congenital disorder of glycosylation [RCV003051277]\|Inborn genetic diseases [RCV003294427]	uncertain significance	12	123756970	123756970	Human	2	name
156409256	CV1873862	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)	ALG9 congenital disorder of glycosylation [RCV003071593]	uncertain significance	12	123756904	123756904	Human	1	name
156207671	CV1874577	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)	ALG9 congenital disorder of glycosylation [RCV003058403]	pathogenic	12	123751189	123751189	Human	1	name
156393584	CV1876179	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)	ALG9 congenital disorder of glycosylation [RCV003068311]	uncertain significance	12	123757970	123757970	Human	1	name
156329325	CV1887598	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)	ALG9 congenital disorder of glycosylation [RCV003089695]\|Inborn genetic diseases [RCV004676140]	uncertain significance	12	123744234	123744234	Human	2	name
156031438	CV1893670	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)	ALG9 congenital disorder of glycosylation [RCV003078121]	uncertain significance	12	123747668	123747668	Human	1	name
156406296	CV1894859	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)	ALG9 congenital disorder of glycosylation [RCV003070307]	uncertain significance	12	123744242	123744242	Human	1	name
156289285	CV1897282	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)	ALG9 congenital disorder of glycosylation [RCV002598684]	uncertain significance	12	123747629	123747629	Human	1	name
10049993	CV191248	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)	ALG9 congenital disorder of glycosylation [RCV002516628]\|Cutis laxa with osteodystrophy [RCV001113318]\|Inborn genetic diseases [RCV002517675]\|not provided [RCV000174366]	uncertain significance	12	123744700	123744700	Human	3	name , alternate_id
156406303	CV1921532	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)	ALG9 congenital disorder of glycosylation [RCV002606550]\|Inborn genetic diseases [RCV004676156]	uncertain significance	12	123743903	123743903	Human	2	name
156379502	CV1927413	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)	ALG9 congenital disorder of glycosylation [RCV002634153]	uncertain significance	12	123756850	123756850	Human	1	name
156275867	CV1957396	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)	ALG9 congenital disorder of glycosylation [RCV002577324]	uncertain significance	12	123757952	123757952	Human	1	name
156345683	CV1989088	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)	ALG9 congenital disorder of glycosylation [RCV002631668]	uncertain significance	12	123744640	123744640	Human	1	name
156211346	CV2000984	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)	ALG9 congenital disorder of glycosylation [RCV002666857]	uncertain significance	12	123744751	123744751	Human	1	name
156056261	CV2003415	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)	ALG9 congenital disorder of glycosylation [RCV002659531]	uncertain significance	12	123751162	123751162	Human	1	name
156363406	CV2016860	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)	ALG9 congenital disorder of glycosylation [RCV002721022]	uncertain significance	12	123757992	123757992	Human	1	name
156026723	CV2048429	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)	ALG9 congenital disorder of glycosylation [RCV002795846]	uncertain significance	12	123744754	123744754	Human	1	name
156061932	CV2057387	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)	ALG9 congenital disorder of glycosylation [RCV002797130]	uncertain significance	12	123748630	123748630	Human	1	name
156191614	CV2066402	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)	ALG9 congenital disorder of glycosylation [RCV002828626]	uncertain significance	12	123752284	123752284	Human	1	name
156108727	CV2085644	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)	ALG9 congenital disorder of glycosylation [RCV002848362]	pathogenic	12	123748776	123748776	Human	1	name
156159040	CV2118521	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)	ALG9 congenital disorder of glycosylation [RCV002929173]	uncertain significance	12	123751122	123751122	Human	1	name
156024448	CV2139081	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)	ALG9 congenital disorder of glycosylation [RCV002998842]	uncertain significance	12	123754437	123754437	Human	1	name
156306185	CV2167564	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)	ALG9 congenital disorder of glycosylation [RCV003045790]	uncertain significance	12	123743827	123743827	Human	1	name
156081750	CV2184210	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)	ALG9 congenital disorder of glycosylation [RCV003054052]	uncertain significance	12	123751173	123751173	Human	1	name
156353945	CV2190663	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)	ALG9 congenital disorder of glycosylation [RCV003048540]	uncertain significance	12	123737240	123737240	Human	1	name
156328638	CV2213655	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1403A>G (p.Tyr468Cys)	Inborn genetic diseases [RCV002673034]	uncertain significance	12	123744673	123744673	Human	1	name
156358391	CV2251073	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2501G>A (p.Gly834Asp)	Inborn genetic diseases [RCV002812441]	uncertain significance	12	123757962	123757962	Human	1	name
156187673	CV2318920	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1661T>C (p.Met554Thr)	Inborn genetic diseases [RCV002930793]	uncertain significance	12	123747662	123747662	Human	1	name
11350577	CV236963	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)	ALG9 congenital disorder of glycosylation [RCV001089165]\|ATP6V0A2-related disorder [RCV003919901]\|Cutis laxa with osteodystrophy [RCV001109058]\|not provided [RCV000224010]\|not specified [RCV000419132]	benign\|likely benign	12	123751228	123751228	Human	2	name , trait , alternate_id
156147150	CV2381839	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1558A>T (p.Ser520Cys)	ALG9 congenital disorder of glycosylation [RCV005099117]\|Inborn genetic diseases [RCV002709433]	uncertain significance	12	123744925	123744925	Human	2	name
243064838	CV2411996	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1084A>G (p.Thr362Ala)	not provided [RCV003143654]	uncertain significance	12	123743830	123743830	Human		name
329350631	CV2477415	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2120T>C (p.Ile707Thr)	not provided [RCV003221740]	uncertain significance	12	123752347	123752347	Human		name
11581030	CV268988	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)	ALG9 congenital disorder of glycosylation [RCV001057289]\|Cutis laxa with osteodystrophy [RCV000352754]\|not provided [RCV000725521]\|not specified [RCV001820821]	uncertain significance	12	123748616	123748616	Human	2	name , alternate_id
11641242	CV270365	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)	ALG9 congenital disorder of glycosylation [RCV001859640]\|Inborn genetic diseases [RCV004021193]\|not provided [RCV000353417]	uncertain significance	12	123743794	123743794	Human	2	name
401857377	CV2760129	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1981C>G (p.Pro661Ala)	Inborn genetic diseases [RCV003356546]	uncertain significance	12	123751155	123751155	Human	1	name
401878093	CV2760252	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1300C>A (p.His434Asn)	Inborn genetic diseases [RCV003363766]	uncertain significance	12	123744311	123744311	Human	1	name
401891693	CV2780672	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2533C>T (p.Leu845Phe)	Inborn genetic diseases [RCV003369571]	uncertain significance	12	123757994	123757994	Human	1	name
405131350	CV2902780	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)	ALG9 congenital disorder of glycosylation [RCV003502171]\|Cutis laxa with osteodystrophy [RCV005013044]	likely pathogenic	12	123743935	123743935	Human	2	name , alternate_id
402466213	CV2925315	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)	ALG9 congenital disorder of glycosylation [RCV003503238]	uncertain significance	12	123744302	123744302	Human	1	name
402469171	CV2927774	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)	ALG9 congenital disorder of glycosylation [RCV003504022]	uncertain significance	12	123748747	123748747	Human	1	name
405031330	CV2996801	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)	ALG9 congenital disorder of glycosylation [RCV003608776]	pathogenic	12	123751168	123751168	Human	1	name
405051754	CV3040522	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)	ALG9 congenital disorder of glycosylation [RCV003610579]	likely benign	12	123744661	123744661	Human	1	name
405041051	CV3070530	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)	ALG9 congenital disorder of glycosylation [RCV003609778]	uncertain significance	12	123737252	123737252	Human	1	name
405040893	CV3073138	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)	ALG9 congenital disorder of glycosylation [RCV003609765]	uncertain significance	12	123754499	123754499	Human	1	name
405175585	CV3152267	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)	ALG9 congenital disorder of glycosylation [RCV003858222]	uncertain significance	12	123744925	123744925	Human	1	name
11611659	CV316283	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val)	Cutis laxa with osteodystrophy [RCV000397985]\|Inborn genetic diseases [RCV002520796]	uncertain significance	12	123748639	123748639	Human	2	name , alternate_id
405295328	CV3211253	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1431C>G (p.Asn477Lys)	ATP6V0A2-related disorder [RCV003937228]	uncertain significance	12	123744701	123744701	Human		name , trait , alternate_id
11610359	CV323637	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)	ALG9 congenital disorder of glycosylation [RCV001057370]\|Cutis laxa with osteodystrophy [RCV000380335]\|Inborn genetic diseases [RCV004965396]\|not provided [RCV000522764]	uncertain significance	12	123743842	123743842	Human	3	name , alternate_id
11601453	CV323661	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)	ALG9 congenital disorder of glycosylation [RCV002522225]\|Cutis laxa with osteodystrophy [RCV000282196]\|Cutis laxa with osteodystrophy [RCV002502211]\|Inborn genetic diseases [RCV005286059]\|not provided [RCV002272210]	uncertain significance	12	123744932	123744932	Human	3	name , alternate_id
405666955	CV3297632	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1672T>G (p.Leu558Val)	Inborn genetic diseases [RCV004418710]	uncertain significance	12	123747673	123747673	Human	1	name
405666962	CV3297633	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1705C>G (p.Leu569Val)	Inborn genetic diseases [RCV004418711]	uncertain significance	12	123747706	123747706	Human	1	name
405666967	CV3297634	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2359G>A (p.Val787Ile)	Inborn genetic diseases [RCV004418712]	uncertain significance	12	123756880	123756880	Human	1	name
11645825	CV329788	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val)	Cutis laxa with osteodystrophy [RCV000267400]\|not provided [RCV001770245]	uncertain significance	12	123754517	123754517	Human	1	name , alternate_id
11618927	CV329790	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu)	Cutis laxa with osteodystrophy [RCV000319194]\|not provided [RCV001764276]	uncertain significance	12	123758003	123758003	Human	1	name , alternate_id
11653787	CV331076	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys)	Cutis laxa with osteodystrophy [RCV000313038]	uncertain significance	12	123748670	123748670	Human	1	name , alternate_id
11617752	CV331083	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)	ALG9 congenital disorder of glycosylation [RCV001859843]\|Cutis laxa with osteodystrophy [RCV000307371]\|Cutis laxa with osteodystrophy [RCV002487367]\|not provided [RCV001653512]	uncertain significance	12	123752299	123752299	Human	2	name , alternate_id
11619016	CV331085	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)	ALG9 congenital disorder of glycosylation [RCV002520797]\|Cutis laxa with osteodystrophy [RCV000320280]\|Cutis laxa with osteodystrophy [RCV002494961]\|not provided [RCV001582944]	uncertain significance	12	123756854	123756854	Human	2	name , alternate_id
405853412	CV3392743	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1886A>C (p.Asn629Thr)	not specified [RCV004526468]	uncertain significance	12	123748736	123748736	Human		name
408386030	CV3415505	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg)	Cutis laxa with osteodystrophy [RCV004767606]	likely pathogenic	12	123747610	123747610	Human	1	name , alternate_id
8566946	CV34346	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)	Cutis laxa with osteodystrophy [RCV000020683]	pathogenic\|not provided	12	123744335	123744335	Human	1	name , alternate_id
8566949	CV34349	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)	Cutis laxa with osteodystrophy [RCV000020686]	benign\|not provided	12	123756823	123756823	Human	1	name , alternate_id
407528166	CV3489037	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1650C>G (p.Phe550Leu)	Inborn genetic diseases [RCV004680285]\|not provided [RCV005241558]	uncertain significance	12	123747651	123747651	Human	1	name
407573061	CV3498838	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1529G>T (p.Arg510Ile)	not specified [RCV004699807]	uncertain significance	12	123744896	123744896	Human		name
408366927	CV3507819	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2136C>G (p.His712Gln)	ATP6V0A2-related disorder [RCV004757650]	uncertain significance	12	123752363	123752363	Human		name , trait , alternate_id
408366966	CV3507877	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1805T>C (p.Ile602Thr)	ATP6V0A2-related disorder [RCV004757651]	uncertain significance	12	123748655	123748655	Human		name , trait , alternate_id
408389991	CV3519089	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1627C>T (p.Arg543Cys)	Inborn genetic diseases [RCV004968626]\|not provided [RCV004762398]	uncertain significance	12	123747628	123747628	Human	1	name
408385967	CV3528767	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1562T>C (p.Ile521Thr)	not provided [RCV004772600]	uncertain significance	12	123744929	123744929	Human		name
596931608	CV3531892	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1453G>A (p.Val485Met)	not provided [RCV004781454]	uncertain significance	12	123744723	123744723	Human		name
12740966	CV360027	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)	ALG9 congenital disorder of glycosylation [RCV001850997]\|not specified [RCV000413672]	uncertain significance	12	123754490	123754490	Human	1	name
12740909	CV360097	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1852A>G (p.Arg618Gly)	not specified [RCV000413466]	uncertain significance	12	123748702	123748702	Human		name
597628621	CV3610517	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1765C>T (p.Pro589Ser)	Inborn genetic diseases [RCV004966890]	uncertain significance	12	123748615	123748615	Human	1	name
597628631	CV3610527	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1503G>A (p.Met501Ile)	Inborn genetic diseases [RCV004966892]	uncertain significance	12	123744773	123744773	Human	1	name
597628634	CV3610533	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1196T>C (p.Phe399Ser)	Inborn genetic diseases [RCV004966893]	uncertain significance	12	123744207	123744207	Human	1	name
597628640	CV3610535	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2062T>C (p.Tyr688His)	Inborn genetic diseases [RCV004966894]	uncertain significance	12	123752289	123752289	Human	1	name
597628646	CV3610545	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2530C>G (p.Leu844Val)	Inborn genetic diseases [RCV004966895]	uncertain significance	12	123757991	123757991	Human	1	name
597702232	CV3713831	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1418C>G (p.Ser473Ter)	Cutis laxa with osteodystrophy [RCV005008888]	likely pathogenic	12	123744688	123744688	Human	1	name , alternate_id
597702259	CV3713833	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2137C>T (p.Gln713Ter)	Cutis laxa with osteodystrophy [RCV005008890]	likely pathogenic	12	123752364	123752364	Human	1	name , alternate_id
12845756	CV372619	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)	ALG9 congenital disorder of glycosylation [RCV002521668]\|not provided [RCV000440387]	uncertain significance	12	123751179	123751179	Human	1	name
12833203	CV374654	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)	ALG9 congenital disorder of glycosylation [RCV001851065]\|not provided [RCV000418070]	uncertain significance	12	123744727	123744727	Human	1	name
12837544	CV374656	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)	ALG9 congenital disorder of glycosylation [RCV001865370]\|Inborn genetic diseases [RCV004022431]\|not provided [RCV000425347]	uncertain significance	12	123751144	123751144	Human	2	name
597895529	CV3773457	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2537C>T (p.Ser846Leu)	ALG9 congenital disorder of glycosylation [RCV005111364]	uncertain significance	12	123757998	123757998	Human	1	name
597931676	CV3789282	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2089G>A (p.Glu697Lys)	ALG9 congenital disorder of glycosylation [RCV005131563]	uncertain significance	12	123752316	123752316	Human	1	name
598208805	CV3891144	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1831G>T (p.Val611Phe)	Cutis laxa with osteodystrophy [RCV005358266]\|not provided [RCV005251997]	uncertain significance	12	123748681	123748681	Human	1	name , alternate_id
598203823	CV3896537	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1100C>G (p.Pro367Arg)	Cutis laxa with osteodystrophy [RCV005356764]	uncertain significance	12	123743846	123743846	Human	1	name , alternate_id
598197326	CV3924164	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2220C>G (p.Ile740Met)	Inborn genetic diseases [RCV005289564]	uncertain significance	12	123754464	123754464	Human	1	name
598197423	CV3924184	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1179A>T (p.Glu393Asp)	Inborn genetic diseases [RCV005289577]	uncertain significance	12	123743925	123743925	Human	1	name
13212302	CV425957	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)	ALG9 congenital disorder of glycosylation [RCV002056828]\|Inborn genetic diseases [RCV005286107]\|not provided [RCV000498620]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	123743815	123743815	Human	2	name
13215432	CV429404	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1147G>A (p.Val383Met)	not specified [RCV000502507]	uncertain significance	12	123743893	123743893	Human		name
13483530	CV441533	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met)	not specified [RCV000518196]	uncertain significance	12	123744671	123744671	Human		name
13483857	CV441534	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)	ALG9 congenital disorder of glycosylation [RCV000698250]\|not provided [RCV003151782]\|not specified [RCV000518290]	likely benign\|uncertain significance	12	123756905	123756905	Human	1	name
13476204	CV444943	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	ALG9 congenital disorder of glycosylation [RCV002527632]\|Cutis laxa with osteodystrophy [RCV000763804]\|Inborn genetic diseases [RCV004678730]\|not provided [RCV000520087]	uncertain significance	12	123737251	123737251	Human	3	name , alternate_id
13486740	CV444944	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2030G>A (p.Gly677Glu)	not provided [RCV000523013]	uncertain significance	12	123751204	123751204	Human		name
13522463	CV491320	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys)	Cutis laxa with osteodystrophy [RCV001332966]\|not provided [RCV000591771]	uncertain significance	12	123756859	123756859	Human	1	name , alternate_id
13515500	CV494078	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly)	Inborn genetic diseases [RCV004024861]\|not provided [RCV000594358]	uncertain significance	12	123744893	123744893	Human	1	name
13608589	CV526714	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)	ALG9 congenital disorder of glycosylation [RCV000640158]\|Cutis laxa with osteodystrophy [RCV001111400]	uncertain significance	12	123756860	123756860	Human	2	name , alternate_id
21074387	CV796710	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu)	not provided [RCV000995002]	uncertain significance	12	123744765	123744765	Human		name
26885420	CV839381	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)	ALG9 congenital disorder of glycosylation [RCV001065442]	uncertain significance	12	123758015	123758015	Human	1	name
28881336	CV859948	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	ALG9 congenital disorder of glycosylation [RCV002555959]\|Cutis laxa with osteodystrophy [RCV001109059]\|Cutis laxa with osteodystrophy [RCV002482165]\|not provided [RCV001092698]	uncertain significance	12	123752343	123752343	Human	2	name , alternate_id
28894508	CV859949	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro)	not provided [RCV001092699]	uncertain significance	12	123756835	123756835	Human		name
28869897	CV869489	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)	ALG9 congenital disorder of glycosylation [RCV001862889]\|Cutis laxa with osteodystrophy [RCV001113317]\|Inborn genetic diseases [RCV003259099]\|not provided [RCV001760081]	uncertain significance	12	123744700	123744700	Human	3	name , alternate_id
28870095	CV869493	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu)	Cutis laxa with osteodystrophy [RCV001113404]\|Inborn genetic diseases [RCV002556212]\|not provided [RCV005093517]	uncertain significance	12	123758008	123758008	Human	2	name , alternate_id
34890636	CV904563	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg)	not provided [RCV001171666]	uncertain significance	12	123743911	123743911	Human		name
38467701	CV920846	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)	Cutis laxa with osteodystrophy [RCV002497684]\|not provided [RCV001200354]	uncertain significance	12	123747667	123747667	Human	1	name , alternate_id
38478009	CV926483	single nucleotide variant	NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)	ALG9 congenital disorder of glycosylation [RCV001216411]\|not provided [RCV001760196]	likely benign\|uncertain significance	12	123743864	123743864	Human	1	name
40815225	CV970955	single nucleotide variant	NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp)	Wrinkly skin syndrome [RCV001262499]	uncertain significance	12	123754467	123754467	Human	1	name
13526608	CV504149	indel	NM_012463.4(ATP6V0A2):c.117+17_117+20delinsTCT	not specified [RCV000604354]	likely benign	12	123712699	123712702	Human		name
405029883	CV3000026	deletion	NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)	ALG9 congenital disorder of glycosylation [RCV003608745]	pathogenic	12	123724735	123724736	Human	1	name
8566952	CV34352	deletion	NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)	Cutis laxa with osteodystrophy [RCV000020689]	pathogenic\|not provided	12	123724712	123724713	Human	1	name , alternate_id
151720096	CV1498252	inversion	NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)	ALG9 congenital disorder of glycosylation [RCV001965840]	uncertain significance	12	123724785	123724786	Human		name
156091898	CV1895620	microsatellite	NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)	ALG9 congenital disorder of glycosylation [RCV003080252]	uncertain significance	12	123744765	123744767	Human		name
150536676	CV1314112	duplication	NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)	Cutis laxa with osteodystrophy [RCV003485991]	pathogenic	12	123754472	123754473	Human	1	name , alternate_id
156336335	CV2189925	deletion	NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)	ALG9 congenital disorder of glycosylation [RCV003063983]	pathogenic	12	123751119	123751120	Human	1	name
598217179	CV3891449	microsatellite	NM_012463.4(ATP6V0A2):c.1776_1777dup (p.Phe593fs)	Cutis laxa with osteodystrophy [RCV005252291]	pathogenic	12	123748622	123748623	Human		name , alternate_id
8570433	CV48051	deletion	NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)	Cutis laxa with osteodystrophy [RCV000032647]	pathogenic	12	123756876	123756882	Human	1	name , alternate_id
151721597	CV1419635	inversion	NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)	ALG9 congenital disorder of glycosylation [RCV001983165]	uncertain significance	12	123744882	123744883	Human		name
597702190	CV3713828	deletion	NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer)	ALG9 congenital disorder of glycosylation [RCV005112541]\|Cutis laxa with osteodystrophy [RCV005008884]	pathogenic	12	123718635	123718635	Human	2	name , alternate_id
38470680	CV956765	indel	NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs)	ALG9 congenital disorder of glycosylation [RCV001248468]	pathogenic	12	123748681	123748682	Human		name
405049953	CV2990318	deletion	NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)	ALG9 congenital disorder of glycosylation [RCV003610439]	pathogenic	12	123737082	123737082	Human	1	name
597889224	CV3839589	deletion	NM_012463.4(ATP6V0A2):c.913del (p.Lys304_Met305insTer)	ALG9 congenital disorder of glycosylation [RCV005179481]	pathogenic	12	123737143	123737143	Human	1	name
42723840	CV983763	deletion	NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)	Cutis laxa with osteodystrophy [RCV001290336]	pathogenic	12	123727795	123727795	Human	1	name , alternate_id
156312806	CV1874576	duplication	NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)	ALG9 congenital disorder of glycosylation [RCV003062556]\|Cutis laxa with osteodystrophy [RCV005010898]	pathogenic	12	123724747	123724748	Human	2	name , alternate_id
597877710	CV3813358	duplication	NM_012463.4(ATP6V0A2):c.1519_1540dup (p.Ile514delinsLysArgArgTer)	ALG9 congenital disorder of glycosylation [RCV005149294]	pathogenic	12	123744885	123744886	Human	1	name

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