Alg6 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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820 records found for search term Alg6

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11597517	CV281608	single nucleotide variant	NM_013339.4(ALG6):c.*89G>A	ALG6-congenital disorder of glycosylation 1C [RCV000395242]	uncertain significance	1	63437109	63437109	Human	1	name , trait
28883402	CV864694	single nucleotide variant	NM_013339.4(ALG6):c.*47A>T	ALG6-congenital disorder of glycosylation 1C [RCV001097488]	uncertain significance	1	63437067	63437067	Human	1	name , trait
127283229	CV1067508	single nucleotide variant	NM_013339.4(ALG6):c.82+7C>T	ALG6-congenital disorder of glycosylation 1C [RCV001411624]	likely benign	1	63371066	63371066	Human	1	name , trait
156318713	CV2025176	single nucleotide variant	NM_013339.4(ALG6):c.82+8A>G	ALG6-congenital disorder of glycosylation 1C [RCV002716955]	likely benign	1	63371067	63371067	Human	1	name , trait
156296344	CV2065335	single nucleotide variant	NM_013339.4(ALG6):c.83-9T>G	ALG6-congenital disorder of glycosylation 1C [RCV002856958]	likely benign	1	63396504	63396504	Human	1	name , trait
155958901	CV2066690	single nucleotide variant	NM_013339.4(ALG6):c.82+9T>G	ALG6-congenital disorder of glycosylation 1C [RCV002816670]	likely benign	1	63371068	63371068	Human	1	name , trait
156219330	CV2128155	single nucleotide variant	NM_013339.4(ALG6):c.83-8G>T	ALG6-congenital disorder of glycosylation 1C [RCV002958077]	likely benign	1	63396505	63396505	Human	1	name , trait
155940636	CV2142905	single nucleotide variant	NM_013339.4(ALG6):c.82+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV002994029]	likely pathogenic	1	63371060	63371060	Human	1	name , trait
11597973	CV280993	single nucleotide variant	NM_013339.4(ALG6):c.*436T>C	ALG6-congenital disorder of glycosylation 1C [RCV000400240]	uncertain significance	1	63437456	63437456	Human	1	name , trait
11589846	CV280997	single nucleotide variant	NM_013339.4(ALG6):c.*670G>A	ALG6-congenital disorder of glycosylation 1C [RCV000313999]	uncertain significance	1	63437690	63437690	Human	1	name , trait
11598058	CV280998	single nucleotide variant	NM_013339.4(ALG6):c.*761T>C	ALG6-congenital disorder of glycosylation 1C [RCV000401182]\|not provided [RCV004713697]	benign	1	63437781	63437781	Human	1	name , trait
11583778	CV281002	single nucleotide variant	NM_013339.4(ALG6):c.*844T>C	ALG6-congenital disorder of glycosylation 1C [RCV000268928]\|not provided [RCV004713698]	benign\|likely benign	1	63437864	63437864	Human	1	name , trait
11597409	CV281596	single nucleotide variant	NM_013339.4(ALG6):c.-136C>G	ALG6-congenital disorder of glycosylation 1C [RCV000393791]\|not provided [RCV001642914]	benign\|likely benign	1	63370842	63370842	Human	1	name , trait
11587829	CV281599	single nucleotide variant	NM_013339.4(ALG6):c.-128C>T	ALG6-congenital disorder of glycosylation 1C [RCV000298202]	uncertain significance	1	63370850	63370850	Human	1	name , trait
11648465	CV281609	single nucleotide variant	NM_013339.4(ALG6):c.*152T>C	ALG6-congenital disorder of glycosylation 1C [RCV000282149]	uncertain significance	1	63437172	63437172	Human	1	name , trait
11591155	CV281610	single nucleotide variant	NM_013339.4(ALG6):c.*961C>T	ALG6-congenital disorder of glycosylation 1C [RCV000326211]	likely benign\|uncertain significance	1	63437981	63437981	Human	1	name , trait
11651486	CV283089	single nucleotide variant	NM_013339.4(ALG6):c.-221C>G	ALG6-congenital disorder of glycosylation 1C [RCV000299449]\|not specified [RCV000417559]	likely benign\|uncertain significance	1	63367674	63367674	Human	1	name , trait
11656605	CV283091	single nucleotide variant	NM_013339.4(ALG6):c.*174A>G	ALG6-congenital disorder of glycosylation 1C [RCV000334989]	uncertain significance	1	63437194	63437194	Human	1	name , trait
11660844	CV283099	deletion	NM_013339.4(ALG6):c.*705del	Congenital disorder of glycosylation [RCV000370980]	uncertain significance	1	63437724	63437724	Human	1	name
13533425	CV498543	single nucleotide variant	NM_013339.4(ALG6):c.-196A>G	not specified [RCV000601659]	likely benign	1	63370782	63370782	Human		name
28883131	CV864684	single nucleotide variant	NM_013339.4(ALG6):c.-141A>G	ALG6-congenital disorder of glycosylation 1C [RCV001097400]	uncertain significance	1	63370837	63370837	Human	1	name , trait
28888575	CV864685	single nucleotide variant	NM_013339.4(ALG6):c.-121T>G	ALG6-congenital disorder of glycosylation 1C [RCV001099143]\|not provided [RCV001786433]	likely benign	1	63370857	63370857	Human	1	name , trait
28888578	CV864686	single nucleotide variant	NM_013339.4(ALG6):c.-120C>T	ALG6-congenital disorder of glycosylation 1C [RCV001099144]	uncertain significance	1	63370858	63370858	Human	1	name , trait
28883725	CV864695	single nucleotide variant	NM_013339.4(ALG6):c.*268C>T	ALG6-congenital disorder of glycosylation 1C [RCV001097589]	likely benign	1	63437288	63437288	Human	1	name , trait
28883731	CV864696	single nucleotide variant	NM_013339.4(ALG6):c.*404T>C	ALG6-congenital disorder of glycosylation 1C [RCV001097590]	uncertain significance	1	63437424	63437424	Human	1	name , trait
28883736	CV864697	single nucleotide variant	NM_013339.4(ALG6):c.*454C>T	ALG6-congenital disorder of glycosylation 1C [RCV001097591]	uncertain significance	1	63437474	63437474	Human	1	name , trait
8642445	CV101428	single nucleotide variant	NM_013339.4(ALG6):c.257+5G>A	ALG6-congenital disorder of glycosylation 1C [RCV000192479]\|ALG6-related disorder [RCV004755763]\|Inborn genetic diseases [RCV004019568]\|not provided [RCV000081557]	pathogenic\|likely pathogenic	1	63402348	63402348	Human	2	name , trait , alternate_id
127246763	CV1054868	single nucleotide variant	NM_013339.4(ALG6):c.258-2A>C	ALG6-congenital disorder of glycosylation 1C [RCV001377656]	likely pathogenic	1	63404451	63404451	Human	1	name , trait
127271613	CV1067521	single nucleotide variant	NM_013339.4(ALG6):c.988-8T>C	ALG6-congenital disorder of glycosylation 1C [RCV001405388]	likely benign	1	63419362	63419362	Human	1	name , trait
127271215	CV1089259	single nucleotide variant	NM_013339.4(ALG6):c.167+8A>G	ALG6-congenital disorder of glycosylation 1C [RCV001441745]\|ALG6-related disorder [RCV003908651]	likely benign	1	63396605	63396605	Human	1	name , trait , alternate_id
127304296	CV1110794	single nucleotide variant	NM_013339.4(ALG6):c.168-5T>C	ALG6-congenital disorder of glycosylation 1C [RCV001454935]	likely benign	1	63402249	63402249	Human	1	name , trait
127293767	CV1110799	single nucleotide variant	NM_013339.4(ALG6):c.681-8T>G	ALG6-congenital disorder of glycosylation 1C [RCV001476658]	likely benign	1	63411918	63411918	Human	1	name , trait
127304265	CV1131664	single nucleotide variant	NM_013339.4(ALG6):c.429+7T>G	ALG6-congenital disorder of glycosylation 1C [RCV001479433]	likely benign	1	63406406	63406406	Human	1	name , trait
127327052	CV1131665	single nucleotide variant	NM_013339.4(ALG6):c.495-8A>G	ALG6-congenital disorder of glycosylation 1C [RCV001506457]	likely benign	1	63411138	63411138	Human	1	name , trait
127336987	CV1131668	single nucleotide variant	NM_013339.4(ALG6):c.902+7G>T	ALG6-congenital disorder of glycosylation 1C [RCV001492523]	likely benign	1	63414153	63414153	Human	1	name , trait
150480589	CV1239611	single nucleotide variant	NM_013339.4(ALG6):c.82+76A>G	not provided [RCV001652774]	benign	1	63371135	63371135	Human		name
150479565	CV1282320	single nucleotide variant	NM_013339.4(ALG6):c.82+89T>G	not provided [RCV001714487]	benign	1	63371148	63371148	Human		name
151760904	CV1343294	single nucleotide variant	NM_013339.4(ALG6):c.495-2A>T	ALG6-congenital disorder of glycosylation 1C [RCV002024353]	likely pathogenic	1	63411144	63411144	Human	1	name , trait
151779460	CV1352320	single nucleotide variant	NM_013339.4(ALG6):c.429+2T>G	ALG6-congenital disorder of glycosylation 1C [RCV002009600]	likely pathogenic	1	63406401	63406401	Human	1	name , trait
151809702	CV1374927	single nucleotide variant	NM_013339.4(ALG6):c.816+4T>C	ALG6-congenital disorder of glycosylation 1C [RCV001933073]	uncertain significance	1	63412065	63412065	Human	1	name , trait
151878568	CV1409856	single nucleotide variant	NM_013339.4(ALG6):c.430-3C>T	ALG6-congenital disorder of glycosylation 1C [RCV001940703]	uncertain significance	1	63407059	63407059	Human	1	name , trait
151875506	CV1459897	single nucleotide variant	NM_013339.4(ALG6):c.680+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV002036207]	pathogenic\|likely pathogenic	1	63411332	63411332	Human	1	name , trait
151841914	CV1473476	single nucleotide variant	NM_013339.4(ALG6):c.988-1G>A	ALG6-congenital disorder of glycosylation 1C [RCV002031921]	pathogenic\|likely pathogenic	1	63419369	63419369	Human	1	name , trait
151827978	CV1489012	single nucleotide variant	NM_013339.4(ALG6):c.681-5T>C	ALG6-congenital disorder of glycosylation 1C [RCV001934776]	uncertain significance	1	63411921	63411921	Human	1	name , trait
152046023	CV1539554	single nucleotide variant	NM_013339.4(ALG6):c.258-4G>T	ALG6-congenital disorder of glycosylation 1C [RCV002145091]	likely benign	1	63404449	63404449	Human	1	name , trait
152031485	CV1561211	single nucleotide variant	NM_013339.4(ALG6):c.82+19T>C	ALG6-congenital disorder of glycosylation 1C [RCV002106167]	likely benign	1	63371078	63371078	Human	1	name , trait
152138666	CV1563551	single nucleotide variant	NM_013339.4(ALG6):c.903-4T>C	ALG6-congenital disorder of glycosylation 1C [RCV002200289]	likely benign	1	63415869	63415869	Human	1	name , trait
152128310	CV1583737	single nucleotide variant	NM_013339.4(ALG6):c.258-4G>C	ALG6-congenital disorder of glycosylation 1C [RCV002198982]	likely benign	1	63404449	63404449	Human	1	name , trait
152065331	CV1601439	single nucleotide variant	NM_013339.4(ALG6):c.168-9C>G	ALG6-congenital disorder of glycosylation 1C [RCV002168569]	likely benign	1	63402245	63402245	Human	1	name , trait
152107715	CV1657362	deletion	NM_013339.4(ALG6):c.681-3del	ALG6-congenital disorder of glycosylation 1C [RCV002215043]	benign	1	63411920	63411920	Human	1	name , trait
156325376	CV1871169	single nucleotide variant	NM_013339.4(ALG6):c.346+5A>G	ALG6-congenital disorder of glycosylation 1C [RCV003063365]	uncertain significance	1	63404546	63404546	Human	1	name , trait
156399068	CV1877382	single nucleotide variant	NM_013339.4(ALG6):c.429+9T>C	ALG6-congenital disorder of glycosylation 1C [RCV003068950]	likely benign	1	63406408	63406408	Human	1	name , trait
156068961	CV1883281	single nucleotide variant	NM_013339.4(ALG6):c.817-8C>G	ALG6-congenital disorder of glycosylation 1C [RCV003079476]	likely benign	1	63414053	63414053	Human	1	name , trait
156414966	CV1964806	single nucleotide variant	NM_013339.4(ALG6):c.816+4T>G	ALG6-congenital disorder of glycosylation 1C [RCV002588903]\|not provided [RCV005424960]	uncertain significance	1	63412065	63412065	Human	1	name , trait
155913191	CV2021814	duplication	NM_013339.4(ALG6):c.346+6dup	ALG6-congenital disorder of glycosylation 1C [RCV002726950]	benign	1	63404543	63404544	Human	1	name , trait
156376412	CV2024754	single nucleotide variant	NM_013339.4(ALG6):c.988-5T>C	ALG6-congenital disorder of glycosylation 1C [RCV002721958]	likely benign	1	63419365	63419365	Human	1	name , trait
155976706	CV2032131	single nucleotide variant	NM_013339.4(ALG6):c.903-8T>C	ALG6-congenital disorder of glycosylation 1C [RCV002755137]	likely benign	1	63415865	63415865	Human	1	name , trait
156259425	CV2037603	single nucleotide variant	NM_013339.4(ALG6):c.681-5T>G	ALG6-congenital disorder of glycosylation 1C [RCV002806276]	uncertain significance	1	63411921	63411921	Human	1	name , trait
8558738	CV20538	single nucleotide variant	NM_013339.4(ALG6):c.167+5G>A	ALG6-congenital disorder of glycosylation 1C [RCV000005834]	pathogenic	1	63396602	63396602	Human	1	name , trait
155980696	CV2101776	single nucleotide variant	NM_013339.4(ALG6):c.903-7T>C	ALG6-congenital disorder of glycosylation 1C [RCV002907692]	likely benign	1	63415866	63415866	Human	1	name , trait
156117481	CV2136557	single nucleotide variant	NM_013339.4(ALG6):c.258-3C>T	ALG6-congenital disorder of glycosylation 1C [RCV003002843]	uncertain significance	1	63404450	63404450	Human	1	name , trait
156318711	CV2155218	single nucleotide variant	NM_013339.4(ALG6):c.681-6T>G	ALG6-congenital disorder of glycosylation 1C [RCV003011551]	uncertain significance	1	63411920	63411920	Human	1	name , trait
156166264	CV2169635	single nucleotide variant	NM_013339.4(ALG6):c.429+2T>C	ALG6-congenital disorder of glycosylation 1C [RCV003023373]	likely pathogenic	1	63406401	63406401	Human	1	name , trait
156091831	CV2172908	single nucleotide variant	NM_013339.4(ALG6):c.680+4A>G	ALG6-congenital disorder of glycosylation 1C [RCV003054388]	uncertain significance	1	63411335	63411335	Human	1	name , trait
156024547	CV2175101	single nucleotide variant	NM_013339.4(ALG6):c.495-6G>A	ALG6-congenital disorder of glycosylation 1C [RCV003035899]	likely benign	1	63411140	63411140	Human	1	name , trait
156111388	CV2177391	single nucleotide variant	NM_013339.4(ALG6):c.816+8T>A	ALG6-congenital disorder of glycosylation 1C [RCV003055105]	likely benign	1	63412069	63412069	Human	1	name , trait
156062827	CV2179604	single nucleotide variant	NM_013339.4(ALG6):c.346+8A>G	ALG6-congenital disorder of glycosylation 1C [RCV003053471]	likely benign	1	63404549	63404549	Human	1	name , trait
11583567	CV281014	single nucleotide variant	NM_013339.4(ALG6):c.*1136C>T	ALG6-congenital disorder of glycosylation 1C [RCV000267539]	likely benign\|uncertain significance	1	63438156	63438156	Human	1	name , trait
11595993	CV281016	duplication	NM_013339.4(ALG6):c.*1156dup	Congenital disorder of glycosylation [RCV000377302]	likely benign	1	63438175	63438176	Human	1	name
11578222	CV281601	single nucleotide variant	NM_013339.4(ALG6):c.167+7T>C	ALG6-congenital disorder of glycosylation 1C [RCV000926554]\|not specified [RCV000605653]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	63396604	63396604	Human	1	name , trait
11581394	CV281602	single nucleotide variant	NM_013339.4(ALG6):c.430-9T>G	ALG6-congenital disorder of glycosylation 1C [RCV000367991]	conflicting interpretations of pathogenicity\|uncertain significance	1	63407053	63407053	Human	1	name , trait
11585262	CV281613	single nucleotide variant	NM_013339.4(ALG6):c.*1434T>C	ALG6-congenital disorder of glycosylation 1C [RCV000279583]	likely benign\|uncertain significance	1	63438454	63438454	Human	1	name , trait
11585350	CV282799	single nucleotide variant	NM_013339.4(ALG6):c.*1322A>G	ALG6-congenital disorder of glycosylation 1C [RCV000280501]	benign\|likely benign	1	63438342	63438342	Human	1	name , trait
11654638	CV282802	single nucleotide variant	NM_013339.4(ALG6):c.*1385T>C	Congenital disorder of glycosylation [RCV000319504]	uncertain significance	1	63438405	63438405	Human	1	name
11595551	CV282804	single nucleotide variant	NM_013339.4(ALG6):c.*1415T>G	ALG6-congenital disorder of glycosylation 1C [RCV000371913]	likely benign\|uncertain significance	1	63438435	63438435	Human	1	name , trait
11659635	CV283123	single nucleotide variant	NM_013339.4(ALG6):c.*1004C>A	ALG6-congenital disorder of glycosylation 1C [RCV000360008]	uncertain significance	1	63438024	63438024	Human	1	name , trait
11654721	CV283125	single nucleotide variant	NM_013339.4(ALG6):c.*1137G>A	ALG6-congenital disorder of glycosylation 1C [RCV000320248]	uncertain significance	1	63438157	63438157	Human	1	name , trait
401941164	CV2835671	deletion	NM_013339.4(ALG6):c.680+1del	ALG6-congenital disorder of glycosylation 1C [RCV003461480]	likely pathogenic	1	63411329	63411329	Human	1	name , trait
401941197	CV2835723	single nucleotide variant	NM_013339.4(ALG6):c.347-2A>G	ALG6-congenital disorder of glycosylation 1C [RCV003461513]	likely pathogenic	1	63406315	63406315	Human	1	name , trait
401941251	CV2835805	single nucleotide variant	NM_013339.4(ALG6):c.987+1G>T	ALG6-congenital disorder of glycosylation 1C [RCV003461567]	likely pathogenic	1	63415958	63415958	Human	1	name , trait
401942637	CV2835817	single nucleotide variant	NM_013339.4(ALG6):c.168-1G>A	ALG6-congenital disorder of glycosylation 1C [RCV003468198]	likely pathogenic	1	63402253	63402253	Human	1	name , trait
401942681	CV2835842	duplication	NM_013339.4(ALG6):c.902+2dup	ALG6-congenital disorder of glycosylation 1C [RCV003468209]	likely pathogenic	1	63414147	63414148	Human	1	name , trait
402478198	CV2880422	single nucleotide variant	NM_013339.4(ALG6):c.82+12T>G	ALG6-congenital disorder of glycosylation 1C [RCV003506128]	likely benign	1	63371071	63371071	Human	1	name , trait
402472475	CV2920995	single nucleotide variant	NM_013339.4(ALG6):c.429+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV003504911]	likely pathogenic	1	63406400	63406400	Human	1	name , trait
405089287	CV2972343	single nucleotide variant	NM_013339.4(ALG6):c.681-1G>T	ALG6-congenital disorder of glycosylation 1C [RCV003613597]	likely pathogenic	1	63411925	63411925	Human	1	name , trait
405091879	CV2978371	single nucleotide variant	NM_013339.4(ALG6):c.258-9G>T	ALG6-congenital disorder of glycosylation 1C [RCV003613795]	likely benign	1	63404444	63404444	Human	1	name , trait
405106563	CV3005122	deletion	NM_013339.4(ALG6):c.680+8del	ALG6-congenital disorder of glycosylation 1C [RCV003614652]	likely benign	1	63411339	63411339	Human	1	name , trait
405106497	CV3008151	duplication	NM_013339.4(ALG6):c.988-7dup	ALG6-congenital disorder of glycosylation 1C [RCV003614614]	likely benign	1	63419362	63419363	Human	1	name , trait
405107749	CV3026104	single nucleotide variant	NM_013339.4(ALG6):c.83-20C>A	ALG6-congenital disorder of glycosylation 1C [RCV003614898]	likely benign	1	63396493	63396493	Human	1	name , trait
405107972	CV3026983	deletion	NM_013339.4(ALG6):c.167+7del	ALG6-congenital disorder of glycosylation 1C [RCV003614957]	likely benign	1	63396604	63396604	Human	1	name , trait
405107940	CV3030147	single nucleotide variant	NM_013339.4(ALG6):c.82+13T>A	ALG6-congenital disorder of glycosylation 1C [RCV003614948]	likely benign	1	63371072	63371072	Human	1	name , trait
405108216	CV3031887	single nucleotide variant	NM_013339.4(ALG6):c.988-7C>A	ALG6-congenital disorder of glycosylation 1C [RCV003615011]	likely benign	1	63419363	63419363	Human	1	name , trait
405108851	CV3047425	single nucleotide variant	NM_013339.4(ALG6):c.82+17G>C	ALG6-congenital disorder of glycosylation 1C [RCV003615150]	likely benign	1	63371076	63371076	Human	1	name , trait
405171758	CV3151732	single nucleotide variant	NM_013339.4(ALG6):c.82+18G>A	ALG6-congenital disorder of glycosylation 1C [RCV003857883]	likely benign	1	63371077	63371077	Human	1	name , trait
405868448	CV3400452	single nucleotide variant	NM_013339.4(ALG6):c.680+1G>T	ALG6-congenital disorder of glycosylation 1C [RCV004576455]	likely pathogenic	1	63411332	63411332	Human	1	name , trait
597843826	CV3780067	single nucleotide variant	NM_013339.4(ALG6):c.168-2A>G	ALG6-congenital disorder of glycosylation 1C [RCV005119076]	likely pathogenic	1	63402252	63402252	Human	1	name , trait
597851095	CV3785612	single nucleotide variant	NM_013339.4(ALG6):c.258-9G>A	ALG6-congenital disorder of glycosylation 1C [RCV005126198]	likely benign	1	63404444	63404444	Human	1	name , trait
597880253	CV3811330	single nucleotide variant	NM_013339.4(ALG6):c.494+2T>C	ALG6-congenital disorder of glycosylation 1C [RCV005155365]	likely pathogenic	1	63407128	63407128	Human	1	name , trait
597906412	CV3845570	single nucleotide variant	NM_013339.4(ALG6):c.429+5G>A	ALG6-congenital disorder of glycosylation 1C [RCV005181380]	uncertain significance	1	63406404	63406404	Human	1	name , trait
8568338	CV39378	single nucleotide variant	NM_013339.4(ALG6):c.680+2T>G	ALG6-congenital disorder of glycosylation 1C [RCV000023374]	pathogenic\|likely pathogenic	1	63411333	63411333	Human	1	name , trait
13782576	CV541264	single nucleotide variant	NM_013339.4(ALG6):c.429+1G>T	ALG6-congenital disorder of glycosylation 1C [RCV000669033]\|not provided [RCV003228977]	likely pathogenic	1	63406400	63406400	Human	1	name , trait
13789325	CV541266	single nucleotide variant	NM_013339.4(ALG6):c.430-2A>G	ALG6-congenital disorder of glycosylation 1C [RCV000674454]	likely pathogenic	1	63407060	63407060	Human	1	name , trait
13791537	CV541268	single nucleotide variant	NM_013339.3(ALG6):c.680+2T>G	Congenital disorder of glycosylation type 1C [RCV000667576]	pathogenic	1	63411333	63411333	Human		name
13787435	CV541329	duplication	NM_013339.4(ALG6):c.257+2dup	ALG6-congenital disorder of glycosylation 1C [RCV000664837]	pathogenic\|likely pathogenic	1	63402344	63402345	Human	1	name , trait
13791456	CV541342	single nucleotide variant	NM_013339.4(ALG6):c.495-2A>G	ALG6-congenital disorder of glycosylation 1C [RCV000667480]	likely pathogenic\|conflicting interpretations of pathogenicity	1	63411144	63411144	Human	1	name , trait
13811349	CV557401	single nucleotide variant	NM_013339.4(ALG6):c.902+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV000688706]	likely pathogenic	1	63414147	63414147	Human	1	name , trait
14710043	CV657870	duplication	NM_013339.4(ALG6):c.988-8dup	ALG6-congenital disorder of glycosylation 1C [RCV003505133]\|not provided [RCV000841287]	benign\|likely benign	1	63419356	63419357	Human	1	name , trait
15172586	CV777144	single nucleotide variant	NM_013339.4(ALG6):c.168-9C>T	not provided [RCV000950057]	likely benign	1	63402245	63402245	Human		name
15126889	CV787058	single nucleotide variant	NM_013339.4(ALG6):c.258-8A>G	ALG6-congenital disorder of glycosylation 1C [RCV001407454]	likely benign	1	63404445	63404445	Human	1	name , trait
28889227	CV864698	single nucleotide variant	NM_013339.4(ALG6):c.*1169G>A	ALG6-congenital disorder of glycosylation 1C [RCV001099352]	uncertain significance	1	63438189	63438189	Human	1	name , trait
28894322	CV864699	single nucleotide variant	NM_013339.4(ALG6):c.*1238A>C	ALG6-congenital disorder of glycosylation 1C [RCV001101342]	uncertain significance	1	63438258	63438258	Human	1	name , trait
28894325	CV864700	single nucleotide variant	NM_013339.4(ALG6):c.*1313T>C	ALG6-congenital disorder of glycosylation 1C [RCV001101343]	uncertain significance	1	63438333	63438333	Human	1	name , trait
28894329	CV864701	single nucleotide variant	NM_013339.4(ALG6):c.*1464A>C	ALG6-congenital disorder of glycosylation 1C [RCV001101344]	uncertain significance	1	63438484	63438484	Human	1	name , trait
38457300	CV959568	single nucleotide variant	NM_013339.4(ALG6):c.257+2T>C	ALG6-congenital disorder of glycosylation 1C [RCV001228628]	likely pathogenic	1	63402345	63402345	Human	1	name , trait
40905018	CV977554	single nucleotide variant	NM_013339.4(ALG6):c.346+7G>C	ALG6-congenital disorder of glycosylation 1C [RCV001278129]	uncertain significance	1	63404548	63404548	Human	1	name , trait
127277479	CV1067523	single nucleotide variant	NM_013339.4(ALG6):c.1327-8C>T	ALG6-congenital disorder of glycosylation 1C [RCV001407855]	likely benign	1	63436815	63436815	Human	1	name , trait
127262819	CV1089270	single nucleotide variant	NM_013339.4(ALG6):c.1059-9C>T	ALG6-congenital disorder of glycosylation 1C [RCV001439139]	likely benign	1	63428724	63428724	Human	1	name , trait
127258983	CV1089271	single nucleotide variant	NM_013339.4(ALG6):c.1059-8G>T	ALG6-congenital disorder of glycosylation 1C [RCV001427508]	likely benign	1	63428725	63428725	Human	1	name , trait
127280212	CV1089272	single nucleotide variant	NM_013339.4(ALG6):c.1127+8A>G	ALG6-congenital disorder of glycosylation 1C [RCV001446321]	likely benign	1	63428809	63428809	Human	1	name , trait
127336180	CV1110802	single nucleotide variant	NM_013339.4(ALG6):c.1326+8C>G	ALG6-congenital disorder of glycosylation 1C [RCV001474805]	likely benign	1	63429134	63429134	Human	1	name , trait
150330426	CV1170101	single nucleotide variant	NM_013339.4(ALG6):c.494+74A>G	ALG6-congenital disorder of glycosylation 1C [RCV001537970]\|not provided [RCV001685455]	benign	1	63407200	63407200	Human	1	name , trait
150423173	CV1182951	single nucleotide variant	NM_013339.4(ALG6):c.429+46T>C	not provided [RCV001554974]	likely benign	1	63406445	63406445	Human		name
150425328	CV1182952	single nucleotide variant	NM_013339.4(ALG6):c.987+36C>T	not provided [RCV001557858]	likely benign	1	63415993	63415993	Human		name
150427355	CV1186219	single nucleotide variant	NM_013339.4(ALG6):c.903-23T>A	not provided [RCV001560814]	likely benign	1	63415850	63415850	Human		name
150416363	CV1196649	single nucleotide variant	NM_013339.4(ALG6):c.258-22G>A	not provided [RCV001575813]	likely benign	1	63404431	63404431	Human		name
150507950	CV1257267	single nucleotide variant	NM_013339.4(ALG6):c.903-30A>T	not provided [RCV001678566]	benign	1	63415843	63415843	Human		name
150535774	CV1312028	single nucleotide variant	NM_013339.4(ALG6):c.903-36A>G	not provided [RCV001779839]	likely benign	1	63415837	63415837	Human		name
150548667	CV1316460	single nucleotide variant	NM_013339.4(ALG6):c.902+67T>C	not provided [RCV001786262]	likely benign	1	63414213	63414213	Human		name
151236124	CV1319555	single nucleotide variant	NM_013339.4(ALG6):c.258-25T>C	not provided [RCV001797500]	likely benign	1	63404428	63404428	Human		name
151798700	CV1347361	single nucleotide variant	NM_013339.4(ALG6):c.1127+4A>G	ALG6-congenital disorder of glycosylation 1C [RCV002027889]	uncertain significance	1	63428805	63428805	Human	1	name , trait
151726519	CV1387189	single nucleotide variant	NM_013339.4(ALG6):c.1326+6T>A	ALG6-congenital disorder of glycosylation 1C [RCV001910406]	uncertain significance	1	63429132	63429132	Human	1	name , trait
151737437	CV1422324	single nucleotide variant	NM_013339.4(ALG6):c.347-13C>G	ALG6-congenital disorder of glycosylation 1C [RCV001984882]\|not specified [RCV005057808]	uncertain significance	1	63406304	63406304	Human	1	name , trait
151799650	CV1430696	single nucleotide variant	NM_013339.4(ALG6):c.1326+1G>T	ALG6-congenital disorder of glycosylation 1C [RCV001877260]	pathogenic	1	63429127	63429127	Human	1	name , trait
151840063	CV1493045	single nucleotide variant	NM_013339.4(ALG6):c.1058+6T>C	ALG6-congenital disorder of glycosylation 1C [RCV001881238]	uncertain significance	1	63419446	63419446	Human	1	name , trait
152155612	CV1520335	single nucleotide variant	NM_013339.4(ALG6):c.903-20G>T	ALG6-congenital disorder of glycosylation 1C [RCV002140124]\|not provided [RCV004711873]	likely benign	1	63415853	63415853	Human	1	name , trait
152038796	CV1524239	single nucleotide variant	NM_013339.4(ALG6):c.495-14T>G	ALG6-congenital disorder of glycosylation 1C [RCV002125771]	likely benign	1	63411132	63411132	Human	1	name , trait
152091089	CV1525810	single nucleotide variant	NM_013339.4(ALG6):c.346+16G>A	ALG6-congenital disorder of glycosylation 1C [RCV002150597]	likely benign	1	63404557	63404557	Human	1	name , trait
152151778	CV1530571	single nucleotide variant	NM_013339.4(ALG6):c.168-15T>A	ALG6-congenital disorder of glycosylation 1C [RCV002102336]	likely benign	1	63402239	63402239	Human	1	name , trait
152097301	CV1534209	single nucleotide variant	NM_013339.4(ALG6):c.347-18A>G	ALG6-congenital disorder of glycosylation 1C [RCV002095020]	likely benign	1	63406299	63406299	Human	1	name , trait
152110286	CV1536959	duplication	NM_013339.4(ALG6):c.1327-9dup	ALG6-congenital disorder of glycosylation 1C [RCV002215390]	benign	1	63436807	63436808	Human	1	name , trait
152059727	CV1540514	single nucleotide variant	NM_013339.4(ALG6):c.258-15T>A	ALG6-congenital disorder of glycosylation 1C [RCV002109964]	likely benign	1	63404438	63404438	Human	1	name , trait
152144130	CV1543087	single nucleotide variant	NM_013339.4(ALG6):c.987+11C>A	ALG6-congenital disorder of glycosylation 1C [RCV002178461]	likely benign	1	63415968	63415968	Human	1	name , trait
152133085	CV1547023	single nucleotide variant	NM_013339.4(ALG6):c.816+18C>A	ALG6-congenital disorder of glycosylation 1C [RCV002155797]	likely benign	1	63412079	63412079	Human	1	name , trait
152051228	CV1569222	single nucleotide variant	NM_013339.4(ALG6):c.258-16A>G	ALG6-congenital disorder of glycosylation 1C [RCV002207546]	likely benign	1	63404437	63404437	Human	1	name , trait
152103631	CV1571958	single nucleotide variant	NM_013339.4(ALG6):c.1128-9C>T	ALG6-congenital disorder of glycosylation 1C [RCV002173424]	likely benign	1	63428919	63428919	Human	1	name , trait
152064544	CV1575397	single nucleotide variant	NM_013339.4(ALG6):c.257+15C>A	ALG6-congenital disorder of glycosylation 1C [RCV002110588]	likely benign	1	63402358	63402358	Human	1	name , trait
152171848	CV1575636	single nucleotide variant	NM_013339.4(ALG6):c.902+15G>A	ALG6-congenital disorder of glycosylation 1C [RCV002183640]	likely benign	1	63414161	63414161	Human	1	name , trait
152092520	CV1593145	single nucleotide variant	NM_013339.4(ALG6):c.495-16C>A	ALG6-congenital disorder of glycosylation 1C [RCV002094385]	likely benign	1	63411130	63411130	Human	1	name , trait
152085795	CV1599304	single nucleotide variant	NM_013339.4(ALG6):c.1059-7A>G	ALG6-congenital disorder of glycosylation 1C [RCV002093464]	likely benign	1	63428726	63428726	Human	1	name , trait
152069861	CV1600968	single nucleotide variant	NM_013339.4(ALG6):c.257+11C>G	ALG6-congenital disorder of glycosylation 1C [RCV002091437]	likely benign	1	63402354	63402354	Human	1	name , trait
152094622	CV1603631	single nucleotide variant	NM_013339.4(ALG6):c.988-20C>T	ALG6-congenital disorder of glycosylation 1C [RCV002213195]	likely benign	1	63419350	63419350	Human	1	name , trait
152035337	CV1604133	single nucleotide variant	NM_013339.4(ALG6):c.1127+9T>A	ALG6-congenital disorder of glycosylation 1C [RCV002087115]	likely benign	1	63428810	63428810	Human	1	name , trait
152052367	CV1607228	single nucleotide variant	NM_013339.4(ALG6):c.346+16G>T	ALG6-congenital disorder of glycosylation 1C [RCV002109135]	likely benign	1	63404557	63404557	Human	1	name , trait
152158731	CV1630818	single nucleotide variant	NM_013339.4(ALG6):c.168-17C>G	ALG6-congenital disorder of glycosylation 1C [RCV002122817]	benign	1	63402237	63402237	Human	1	name , trait
152105655	CV1640799	single nucleotide variant	NM_013339.4(ALG6):c.258-14G>A	ALG6-congenital disorder of glycosylation 1C [RCV002096123]	likely benign	1	63404439	63404439	Human	1	name , trait
152108495	CV1643537	single nucleotide variant	NM_013339.4(ALG6):c.680+14A>T	ALG6-congenital disorder of glycosylation 1C [RCV002096519]	likely benign	1	63411345	63411345	Human	1	name , trait
152147900	CV1647405	single nucleotide variant	NM_013339.4(ALG6):c.1058+7A>G	ALG6-congenital disorder of glycosylation 1C [RCV002201510]	likely benign	1	63419447	63419447	Human	1	name , trait
152108540	CV1648295	single nucleotide variant	NM_013339.4(ALG6):c.903-13A>G	ALG6-congenital disorder of glycosylation 1C [RCV002116239]	benign\|likely benign	1	63415860	63415860	Human	1	name , trait
152026120	CV1666213	single nucleotide variant	NM_013339.4(ALG6):c.680+12T>C	ALG6-congenital disorder of glycosylation 1C [RCV002084693]	likely benign	1	63411343	63411343	Human	1	name , trait
156379812	CV1873428	single nucleotide variant	NM_013339.4(ALG6):c.257+17T>C	ALG6-congenital disorder of glycosylation 1C [RCV003067072]	likely benign	1	63402360	63402360	Human	1	name , trait
155984054	CV1883833	single nucleotide variant	NM_013339.4(ALG6):c.816+16T>C	ALG6-congenital disorder of glycosylation 1C [RCV003075802]	likely benign	1	63412077	63412077	Human	1	name , trait
156131552	CV1885553	single nucleotide variant	NM_013339.4(ALG6):c.681-17C>G	ALG6-congenital disorder of glycosylation 1C [RCV003081859]	likely benign	1	63411909	63411909	Human	1	name , trait
156143894	CV1898736	single nucleotide variant	NM_013339.4(ALG6):c.680+11T>G	ALG6-congenital disorder of glycosylation 1C [RCV003082305]	likely benign	1	63411342	63411342	Human	1	name , trait
156371767	CV1901448	single nucleotide variant	NM_013339.4(ALG6):c.346+19G>A	ALG6-congenital disorder of glycosylation 1C [RCV002582470]	uncertain significance	1	63404560	63404560	Human	1	name , trait
156262668	CV1902786	single nucleotide variant	NM_013339.4(ALG6):c.681-18C>G	ALG6-congenital disorder of glycosylation 1C [RCV003086497]	uncertain significance	1	63411908	63411908	Human	1	name , trait
156368051	CV1902991	single nucleotide variant	NM_013339.4(ALG6):c.988-18C>T	ALG6-congenital disorder of glycosylation 1C [RCV003092202]	likely benign	1	63419352	63419352	Human	1	name , trait
156032063	CV1910884	deletion	NM_013339.4(ALG6):c.988-14del	ALG6-congenital disorder of glycosylation 1C [RCV002619895]	benign	1	63419350	63419350	Human	1	name , trait
156218557	CV1928067	single nucleotide variant	NM_013339.4(ALG6):c.258-19T>C	ALG6-congenital disorder of glycosylation 1C [RCV002644306]	likely benign	1	63404434	63404434	Human	1	name , trait
156273478	CV1957291	single nucleotide variant	NM_013339.4(ALG6):c.346+15G>T	ALG6-congenital disorder of glycosylation 1C [RCV002577242]	likely benign	1	63404556	63404556	Human	1	name , trait
156411963	CV1972934	single nucleotide variant	NM_013339.4(ALG6):c.1128-3C>T	ALG6-congenital disorder of glycosylation 1C [RCV002587662]	uncertain significance	1	63428925	63428925	Human	1	name , trait
156224802	CV1981511	single nucleotide variant	NM_013339.4(ALG6):c.1059-7A>C	ALG6-congenital disorder of glycosylation 1C [RCV002626579]	likely benign	1	63428726	63428726	Human	1	name , trait
156390907	CV1995455	single nucleotide variant	NM_013339.4(ALG6):c.167+19G>C	ALG6-congenital disorder of glycosylation 1C [RCV002680752]	likely benign	1	63396616	63396616	Human	1	name , trait
156209177	CV2000841	single nucleotide variant	NM_013339.4(ALG6):c.167+15A>G	ALG6-congenital disorder of glycosylation 1C [RCV002666779]	likely benign	1	63396612	63396612	Human	1	name , trait
156267052	CV2030521	duplication	NM_013339.4(ALG6):c.1326+2dup	ALG6-congenital disorder of glycosylation 1C [RCV002746509]	uncertain significance	1	63429127	63429128	Human	1	name , trait
155917552	CV2031918	single nucleotide variant	NM_013339.4(ALG6):c.902+13A>G	ALG6-congenital disorder of glycosylation 1C [RCV002727214]	likely benign	1	63414159	63414159	Human	1	name , trait
155930337	CV2035014	single nucleotide variant	NM_013339.4(ALG6):c.347-17T>C	ALG6-congenital disorder of glycosylation 1C [RCV002751124]	likely benign	1	63406300	63406300	Human	1	name , trait
156152995	CV2098556	single nucleotide variant	NM_013339.4(ALG6):c.680+10T>C	ALG6-congenital disorder of glycosylation 1C [RCV002890717]	likely benign	1	63411341	63411341	Human	1	name , trait
156034589	CV2112684	deletion	NM_013339.4(ALG6):c.816+11del	ALG6-congenital disorder of glycosylation 1C [RCV002910215]	likely benign	1	63412070	63412070	Human	1	name , trait
156215960	CV2127988	single nucleotide variant	NM_013339.4(ALG6):c.495-10A>C	ALG6-congenital disorder of glycosylation 1C [RCV002957945]	likely benign	1	63411136	63411136	Human	1	name , trait
156201423	CV2153973	single nucleotide variant	NM_013339.4(ALG6):c.430-10G>C	ALG6-congenital disorder of glycosylation 1C [RCV003006337]	likely benign	1	63407052	63407052	Human	1	name , trait
156032980	CV2156566	single nucleotide variant	NM_013339.4(ALG6):c.1327-5T>G	ALG6-congenital disorder of glycosylation 1C [RCV003018752]	likely benign	1	63436818	63436818	Human	1	name , trait
156314267	CV2158335	single nucleotide variant	NM_013339.4(ALG6):c.816+12C>A	ALG6-congenital disorder of glycosylation 1C [RCV003028764]	likely benign	1	63412073	63412073	Human	1	name , trait
156099685	CV2164250	single nucleotide variant	NM_013339.4(ALG6):c.1326+8C>T	ALG6-congenital disorder of glycosylation 1C [RCV003038533]	likely benign	1	63429134	63429134	Human	1	name , trait
156021505	CV2174234	single nucleotide variant	NM_013339.4(ALG6):c.816+19C>T	ALG6-congenital disorder of glycosylation 1C [RCV003035753]	likely benign	1	63412080	63412080	Human	1	name , trait
156209532	CV2175586	single nucleotide variant	NM_013339.4(ALG6):c.681-16T>G	ALG6-congenital disorder of glycosylation 1C [RCV003024752]	likely benign	1	63411910	63411910	Human	1	name , trait
11660296	CV282798	microsatellite	NM_013339.4(ALG6):c.*796AT[6]	Congenital disorder of glycosylation [RCV000365841]	uncertain significance	1	63437814	63437815	Human		name
401942615	CV2835803	single nucleotide variant	NM_013339.4(ALG6):c.1326+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV003468192]	pathogenic\|likely pathogenic	1	63429127	63429127	Human	1	name , trait
401942736	CV2835860	single nucleotide variant	NM_013339.4(ALG6):c.1058+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV003468222]	likely pathogenic	1	63419441	63419441	Human	1	name , trait
402476524	CV2856560	single nucleotide variant	NM_013339.4(ALG6):c.258-13C>G	ALG6-congenital disorder of glycosylation 1C [RCV003505825]	likely benign	1	63404440	63404440	Human	1	name , trait
402474450	CV2864558	single nucleotide variant	NM_013339.4(ALG6):c.681-19A>C	ALG6-congenital disorder of glycosylation 1C [RCV003505441]	likely benign	1	63411907	63411907	Human	1	name , trait
402477292	CV2868011	single nucleotide variant	NM_013339.4(ALG6):c.816+14C>A	ALG6-congenital disorder of glycosylation 1C [RCV003505974]	likely benign	1	63412075	63412075	Human	1	name , trait
402478328	CV2873740	single nucleotide variant	NM_013339.4(ALG6):c.987+14T>C	ALG6-congenital disorder of glycosylation 1C [RCV003506149]	likely benign	1	63415971	63415971	Human	1	name , trait
402471457	CV2907910	single nucleotide variant	NM_013339.4(ALG6):c.430-19A>G	ALG6-congenital disorder of glycosylation 1C [RCV003504676]	likely benign	1	63407043	63407043	Human	1	name , trait
402471581	CV2918720	single nucleotide variant	NM_013339.4(ALG6):c.1059-4T>G	ALG6-congenital disorder of glycosylation 1C [RCV003504707]	likely benign	1	63428729	63428729	Human	1	name , trait
402475563	CV2929729	single nucleotide variant	NM_013339.4(ALG6):c.902+12A>T	ALG6-congenital disorder of glycosylation 1C [RCV003505650]	likely benign	1	63414158	63414158	Human	1	name , trait
405105015	CV2947745	single nucleotide variant	NM_013339.4(ALG6):c.347-14A>C	ALG6-congenital disorder of glycosylation 1C [RCV003614293]	likely benign	1	63406303	63406303	Human	1	name , trait
405105491	CV2957423	single nucleotide variant	NM_013339.4(ALG6):c.346+11A>G	ALG6-congenital disorder of glycosylation 1C [RCV003614399]	likely benign	1	63404552	63404552	Human	1	name , trait
405106006	CV2962969	deletion	NM_013339.4(ALG6):c.257+10del	ALG6-congenital disorder of glycosylation 1C [RCV003614508]	benign	1	63402349	63402349	Human	1	name , trait
405089067	CV2968215	single nucleotide variant	NM_013339.4(ALG6):c.258-18A>C	ALG6-congenital disorder of glycosylation 1C [RCV003613581]	likely benign	1	63404435	63404435	Human	1	name , trait
405106253	CV2993392	deletion	NM_013339.4(ALG6):c.257+14del	ALG6-congenital disorder of glycosylation 1C [RCV003614561]	likely benign	1	63402355	63402355	Human	1	name , trait
405093794	CV2995025	single nucleotide variant	NM_013339.4(ALG6):c.167+14A>G	ALG6-congenital disorder of glycosylation 1C [RCV003613954]	likely benign	1	63396611	63396611	Human	1	name , trait
405107330	CV3017550	single nucleotide variant	NM_013339.4(ALG6):c.258-18A>G	ALG6-congenital disorder of glycosylation 1C [RCV003614815]	likely benign	1	63404435	63404435	Human	1	name , trait
405108686	CV3049864	single nucleotide variant	NM_013339.4(ALG6):c.903-16T>C	ALG6-congenital disorder of glycosylation 1C [RCV003615115]	likely benign	1	63415857	63415857	Human	1	name , trait
405108630	CV3053037	single nucleotide variant	NM_013339.4(ALG6):c.346+13T>C	ALG6-congenital disorder of glycosylation 1C [RCV003615103]	likely benign	1	63404554	63404554	Human	1	name , trait
405109781	CV3058709	single nucleotide variant	NM_013339.4(ALG6):c.346+20T>C	ALG6-congenital disorder of glycosylation 1C [RCV003615330]	likely benign	1	63404561	63404561	Human	1	name , trait
405109587	CV3064346	single nucleotide variant	NM_013339.4(ALG6):c.988-14C>T	ALG6-congenital disorder of glycosylation 1C [RCV003615294]	likely benign	1	63419356	63419356	Human	1	name , trait
405109391	CV3067375	single nucleotide variant	NM_013339.4(ALG6):c.988-16C>T	ALG6-congenital disorder of glycosylation 1C [RCV003615258]	likely benign	1	63419354	63419354	Human	1	name , trait
405110678	CV3080388	single nucleotide variant	NM_013339.4(ALG6):c.903-11T>G	ALG6-congenital disorder of glycosylation 1C [RCV003615497]	likely benign	1	63415862	63415862	Human	1	name , trait
405111891	CV3080402	single nucleotide variant	NM_013339.4(ALG6):c.430-18C>T	ALG6-congenital disorder of glycosylation 1C [RCV003615498]	likely benign	1	63407044	63407044	Human	1	name , trait
405216664	CV3124738	single nucleotide variant	NM_013339.4(ALG6):c.346+12A>G	ALG6-congenital disorder of glycosylation 1C [RCV003824101]	likely benign	1	63404553	63404553	Human	1	name , trait
405094034	CV3134689	single nucleotide variant	NM_013339.4(ALG6):c.680+19C>T	ALG6-congenital disorder of glycosylation 1C [RCV003835035]	likely benign	1	63411350	63411350	Human	1	name , trait
405195482	CV3146412	single nucleotide variant	NM_013339.4(ALG6):c.681-17C>A	ALG6-congenital disorder of glycosylation 1C [RCV003843767]	likely benign	1	63411909	63411909	Human	1	name , trait
405163396	CV3153195	single nucleotide variant	NM_013339.4(ALG6):c.988-16C>A	ALG6-congenital disorder of glycosylation 1C [RCV003840930]	likely benign	1	63419354	63419354	Human	1	name , trait
402471231	CV3171517	single nucleotide variant	NM_013339.4(ALG6):c.988-13T>G	ALG6-congenital disorder of glycosylation 1C [RCV003874301]	likely benign	1	63419357	63419357	Human	1	name , trait
405252729	CV3178084	single nucleotide variant	NM_013339.4(ALG6):c.988-15C>A	ALG6-congenital disorder of glycosylation 1C [RCV003870864]	likely benign	1	63419355	63419355	Human	1	name , trait
402490024	CV3182361	single nucleotide variant	NM_013339.4(ALG6):c.257+19A>T	ALG6-congenital disorder of glycosylation 1C [RCV003876847]	likely benign	1	63402362	63402362	Human	1	name , trait
12843629	CV365154	single nucleotide variant	NM_013339.4(ALG6):c.902+19G>A	ALG6-congenital disorder of glycosylation 1C [RCV002059649]\|not specified [RCV000436549]	likely benign	1	63414165	63414165	Human	1	name , trait
12842171	CV365330	single nucleotide variant	NM_013339.4(ALG6):c.987+12A>G	ALG6-congenital disorder of glycosylation 1C [RCV001513779]\|not specified [RCV000433933]	benign\|likely benign	1	63415969	63415969	Human	1	name , trait
12837384	CV365332	single nucleotide variant	NM_013339.4(ALG6):c.1059-8G>A	ALG6-congenital disorder of glycosylation 1C [RCV001405510]\|not specified [RCV000425062]	likely benign	1	63428725	63428725	Human	1	name , trait
597851756	CV3737566	single nucleotide variant	NM_013339.4(ALG6):c.902+15G>C	ALG6-congenital disorder of glycosylation 1C [RCV005066339]	likely benign	1	63414161	63414161	Human	1	name , trait
597842188	CV3783896	single nucleotide variant	NM_013339.4(ALG6):c.988-20C>G	ALG6-congenital disorder of glycosylation 1C [RCV005116376]	likely benign	1	63419350	63419350	Human	1	name , trait
597884214	CV3819294	duplication	NM_013339.4(ALG6):c.168-10dup	ALG6-congenital disorder of glycosylation 1C [RCV005159104]	benign	1	63402237	63402238	Human	1	name , trait
597891512	CV3821971	single nucleotide variant	NM_013339.4(ALG6):c.988-17C>G	ALG6-congenital disorder of glycosylation 1C [RCV005166434]	likely benign	1	63419353	63419353	Human	1	name , trait
597897484	CV3831053	single nucleotide variant	NM_013339.4(ALG6):c.1059-8G>C	ALG6-congenital disorder of glycosylation 1C [RCV005172434]	likely benign	1	63428725	63428725	Human	1	name , trait
13536108	CV498562	duplication	NM_013339.4(ALG6):c.-207-9dup	not specified [RCV000608523]	likely benign	1	63370753	63370754	Human		name
13535959	CV498564	single nucleotide variant	NM_013339.4(ALG6):c.258-15T>C	ALG6-congenital disorder of glycosylation 1C [RCV003614054]\|not specified [RCV000608310]	likely benign	1	63404438	63404438	Human	1	name , trait
13541825	CV498566	single nucleotide variant	NM_013339.4(ALG6):c.346+10C>A	not specified [RCV000616691]	likely benign	1	63404551	63404551	Human		name
13538498	CV498771	duplication	NM_013339.4(ALG6):c.988-14dup	not specified [RCV000611917]	likely benign	1	63419349	63419350	Human		name
13782952	CV541229	single nucleotide variant	NM_013339.4(ALG6):c.1128-2A>C	ALG6-congenital disorder of glycosylation 1C [RCV000669513]	likely pathogenic	1	63428926	63428926	Human	1	name , trait
13822313	CV557403	single nucleotide variant	NM_013339.4(ALG6):c.1127+1G>A	ALG6-congenital disorder of glycosylation 1C [RCV000697128]	likely pathogenic	1	63428802	63428802	Human	1	name , trait
14744005	CV657974	single nucleotide variant	NM_013339.4(ALG6):c.494+15T>C	ALG6-congenital disorder of glycosylation 1C [RCV001858441]\|not provided [RCV000842466]	likely benign	1	63407141	63407141	Human	1	name , trait
15181831	CV774538	single nucleotide variant	NM_013339.4(ALG6):c.816+10A>T	ALG6-congenital disorder of glycosylation 1C [RCV000930221]\|not specified [RCV001818896]	likely benign\|uncertain significance	1	63412071	63412071	Human	1	name , trait
15131456	CV774546	single nucleotide variant	NM_013339.4(ALG6):c.1327-4G>A	ALG6-congenital disorder of glycosylation 1C [RCV000942227]	likely benign	1	63436819	63436819	Human	1	name , trait
28883397	CV865198	single nucleotide variant	NM_013339.4(ALG6):c.1127+8A>C	ALG6-congenital disorder of glycosylation 1C [RCV001097487]	conflicting interpretations of pathogenicity\|uncertain significance	1	63428809	63428809	Human	1	name , trait
40815489	CV970700	single nucleotide variant	NM_013339.4(ALG6):c.1128-1G>A	ALG6-congenital disorder of glycosylation 1C [RCV001262921]	likely pathogenic	1	63428927	63428927	Human	1	name , trait
150330424	CV1170099	single nucleotide variant	NM_013339.4(ALG6):c.347-107A>G	ALG6-congenital disorder of glycosylation 1C [RCV001537968]\|not provided [RCV001619949]	benign	1	63406210	63406210	Human	1	name , trait
150330425	CV1170100	single nucleotide variant	NM_013339.4(ALG6):c.430-133T>C	ALG6-congenital disorder of glycosylation 1C [RCV001537969]\|not provided [RCV001615260]	benign	1	63406929	63406929	Human	1	name , trait
150488315	CV1208233	deletion	NM_013339.4(ALG6):c.902+123del	not provided [RCV001592093]	likely benign	1	63414256	63414256	Human		name
150514108	CV1210863	single nucleotide variant	NM_013339.4(ALG6):c.495-131T>C	not provided [RCV001598905]	benign	1	63411015	63411015	Human		name
150479825	CV1219306	single nucleotide variant	NM_013339.4(ALG6):c.680+128G>T	not provided [RCV001616648]	benign	1	63411459	63411459	Human		name
150467874	CV1220089	single nucleotide variant	NM_013339.4(ALG6):c.-208+78C>G	not provided [RCV001614580]	benign	1	63367765	63367765	Human		name
150484183	CV1222437	single nucleotide variant	NM_013339.4(ALG6):c.817-273G>A	not provided [RCV001617440]	benign	1	63413788	63413788	Human		name
150503907	CV1223844	single nucleotide variant	NM_013339.4(ALG6):c.681-183C>T	not provided [RCV001621493]	benign	1	63411743	63411743	Human		name
150510491	CV1242383	single nucleotide variant	NM_013339.4(ALG6):c.347-348T>C	not provided [RCV001660733]	benign	1	63405969	63405969	Human		name
150469922	CV1247902	single nucleotide variant	NM_013339.4(ALG6):c.1128-41T>C	not provided [RCV001670938]	benign	1	63428887	63428887	Human		name
150453282	CV1260495	single nucleotide variant	NM_013339.4(ALG6):c.-208+92G>T	not provided [RCV001680986]	benign	1	63367779	63367779	Human		name
150467705	CV1269276	single nucleotide variant	NM_013339.4(ALG6):c.347-230T>C	not provided [RCV001694684]	benign	1	63406087	63406087	Human		name
150445704	CV1271752	single nucleotide variant	NM_013339.4(ALG6):c.817-292A>G	not provided [RCV001691166]	benign	1	63413769	63413769	Human		name
150463439	CV1276225	single nucleotide variant	NM_013339.4(ALG6):c.816+201C>T	not provided [RCV001710170]	benign	1	63412262	63412262	Human		name
150465463	CV1277243	single nucleotide variant	NM_013339.4(ALG6):c.429+289T>C	not provided [RCV001710537]	benign	1	63406688	63406688	Human		name
150492545	CV1281208	single nucleotide variant	NM_013339.4(ALG6):c.1327-63A>G	not provided [RCV001716834]	benign	1	63436760	63436760	Human		name
150443803	CV1287931	single nucleotide variant	NM_013339.4(ALG6):c.495-138G>A	not provided [RCV001725653]	benign	1	63411008	63411008	Human		name
150535624	CV1311954	single nucleotide variant	NM_013339.4(ALG6):c.-207-97T>C	not provided [RCV001779764]	likely benign	1	63370674	63370674	Human		name
150535648	CV1311965	single nucleotide variant	NM_013339.4(ALG6):c.167+148T>C	not provided [RCV001779776]	likely benign	1	63396745	63396745	Human		name
150548696	CV1316475	single nucleotide variant	NM_013339.4(ALG6):c.1326+44C>G	not provided [RCV001786277]	likely benign	1	63429170	63429170	Human		name
152121411	CV1521440	single nucleotide variant	NM_013339.4(ALG6):c.1128-11T>C	ALG6-congenital disorder of glycosylation 1C [RCV002135753]	likely benign	1	63428917	63428917	Human	1	name , trait
152055936	CV1522954	single nucleotide variant	NM_013339.4(ALG6):c.1326+20A>G	ALG6-congenital disorder of glycosylation 1C [RCV002167432]	likely benign	1	63429146	63429146	Human	1	name , trait
152110280	CV1564019	single nucleotide variant	NM_013339.4(ALG6):c.1327-16C>T	ALG6-congenital disorder of glycosylation 1C [RCV002174245]	likely benign	1	63436807	63436807	Human	1	name , trait
152066606	CV1601689	single nucleotide variant	NM_013339.4(ALG6):c.1128-13T>A	ALG6-congenital disorder of glycosylation 1C [RCV002168744]	likely benign	1	63428915	63428915	Human	1	name , trait
152151779	CV1631638	single nucleotide variant	NM_013339.4(ALG6):c.1127+12C>A	ALG6-congenital disorder of glycosylation 1C [RCV002179564]	likely benign	1	63428813	63428813	Human	1	name , trait
152090119	CV1654785	single nucleotide variant	NM_013339.4(ALG6):c.1127+11T>C	ALG6-congenital disorder of glycosylation 1C [RCV002212610]	likely benign	1	63428812	63428812	Human	1	name , trait
153000270	CV1683648	single nucleotide variant	NM_013339.4(ALG6):c.1127+21T>A	not provided [RCV002254103]	likely benign	1	63428822	63428822	Human		name
156133218	CV1885676	single nucleotide variant	NM_013339.4(ALG6):c.1327-15T>C	ALG6-congenital disorder of glycosylation 1C [RCV003081920]	likely benign	1	63436808	63436808	Human	1	name , trait
156214712	CV2047467	single nucleotide variant	NM_013339.4(ALG6):c.1128-19T>A	ALG6-congenital disorder of glycosylation 1C [RCV002790387]	likely benign	1	63428909	63428909	Human	1	name , trait
11581117	CV281594	single nucleotide variant	NM_013339.4(ALG6):c.-207-12T>C	ALG6-congenital disorder of glycosylation 1C [RCV000356606]\|ALG6-related disorder [RCV003897678]\|not specified [RCV000421953]	likely benign\|uncertain significance	1	63370759	63370759	Human	1	name , trait , alternate_id
402471720	CV2908477	single nucleotide variant	NM_013339.4(ALG6):c.1127+18C>G	ALG6-congenital disorder of glycosylation 1C [RCV003504740]	likely benign	1	63428819	63428819	Human	1	name , trait
402472775	CV2921866	single nucleotide variant	NM_013339.4(ALG6):c.1059-20T>G	ALG6-congenital disorder of glycosylation 1C [RCV003504979]	likely benign	1	63428713	63428713	Human	1	name , trait
402472840	CV2925262	single nucleotide variant	NM_013339.4(ALG6):c.1327-13T>C	ALG6-congenital disorder of glycosylation 1C [RCV003504994]	likely benign	1	63436810	63436810	Human	1	name , trait
402476101	CV2930350	single nucleotide variant	NM_013339.4(ALG6):c.1058+19A>C	ALG6-congenital disorder of glycosylation 1C [RCV003505747]	likely benign	1	63419459	63419459	Human	1	name , trait
405105376	CV2949854	deletion	NM_013339.4(ALG6):c.1058+16del	ALG6-congenital disorder of glycosylation 1C [RCV003614374]	likely benign	1	63419454	63419454	Human	1	name , trait
405105449	CV2949988	single nucleotide variant	NM_013339.4(ALG6):c.1327-16C>A	ALG6-congenital disorder of glycosylation 1C [RCV003614390]	likely benign	1	63436807	63436807	Human	1	name , trait
405091777	CV2985425	single nucleotide variant	NM_013339.4(ALG6):c.1327-17C>T	ALG6-congenital disorder of glycosylation 1C [RCV003613788]	likely benign	1	63436806	63436806	Human	1	name , trait
405093833	CV2995111	single nucleotide variant	NM_013339.4(ALG6):c.1326+10A>G	ALG6-congenital disorder of glycosylation 1C [RCV003613958]	likely benign	1	63429136	63429136	Human	1	name , trait
405109616	CV3061197	single nucleotide variant	NM_013339.4(ALG6):c.1327-12T>C	ALG6-congenital disorder of glycosylation 1C [RCV003615300]	likely benign	1	63436811	63436811	Human	1	name , trait
405110686	CV3081048	single nucleotide variant	NM_013339.4(ALG6):c.1127+20A>G	ALG6-congenital disorder of glycosylation 1C [RCV003615522]	likely benign	1	63428821	63428821	Human	1	name , trait
405254912	CV3175606	single nucleotide variant	NM_013339.4(ALG6):c.1127+14A>G	ALG6-congenital disorder of glycosylation 1C [RCV003871873]	likely benign	1	63428815	63428815	Human	1	name , trait
404986255	CV3183858	single nucleotide variant	NM_013339.4(ALG6):c.1128-15A>C	ALG6-congenital disorder of glycosylation 1C [RCV003881135]	likely benign	1	63428913	63428913	Human	1	name , trait
405002443	CV3184134	single nucleotide variant	NM_013339.4(ALG6):c.1058+16T>G	ALG6-congenital disorder of glycosylation 1C [RCV003882717]	likely benign	1	63419456	63419456	Human	1	name , trait
12847342	CV365155	single nucleotide variant	NM_013339.4(ALG6):c.1128-18A>T	ALG6-congenital disorder of glycosylation 1C [RCV002059881]\|not specified [RCV000443319]	likely benign	1	63428910	63428910	Human	1	name , trait
597838021	CV3763426	single nucleotide variant	NM_013339.4(ALG6):c.1327-20A>C	ALG6-congenital disorder of glycosylation 1C [RCV005111006]	likely benign	1	63436803	63436803	Human	1	name , trait
13789277	CV541336	deletion	NM_013339.4(ALG6):c.82_82+8del	ALG6-congenital disorder of glycosylation 1C [RCV000674424]	likely pathogenic	1	63371057	63371065	Human	1	name , trait
28883128	CV865197	single nucleotide variant	NM_013339.4(ALG6):c.-208+10T>C	ALG6-congenital disorder of glycosylation 1C [RCV001097399]	uncertain significance	1	63367697	63367697	Human	1	name , trait
150333993	CV1168848	single nucleotide variant	NM_013339.4(ALG6):c.1327-297G>A	not provided [RCV001537569]	benign	1	63436526	63436526	Human		name
150330427	CV1170102	single nucleotide variant	NM_013339.4(ALG6):c.1058+111T>G	ALG6-congenital disorder of glycosylation 1C [RCV001537971]\|not provided [RCV001676037]	benign	1	63419551	63419551	Human	1	name , trait
150430700	CV1231009	single nucleotide variant	NM_013339.4(ALG6):c.-208+216G>T	not provided [RCV001641558]	benign	1	63367903	63367903	Human		name
150491932	CV1253843	single nucleotide variant	NM_013339.4(ALG6):c.1059-245T>G	not provided [RCV001674939]	benign	1	63428488	63428488	Human		name
150548519	CV1316385	single nucleotide variant	NM_013339.4(ALG6):c.-208+115C>G	not provided [RCV001786187]	likely benign	1	63367802	63367802	Human		name
150482731	CV1244322	microsatellite	NM_013339.4(ALG6):c.903-194TA[5]	not provided [RCV001653170]	benign	1	63415679	63415680	Human		name
151734844	CV1453245	deletion	NM_013339.4(ALG6):c.258-9_267del	ALG6-congenital disorder of glycosylation 1C [RCV002041591]	likely pathogenic	1	63404441	63404459	Human	1	name , trait
11589758	CV283122	microsatellite	NM_013339.4(ALG6):c.*790TATAT[1]	Congenital disorder of glycosylation [RCV000312973]	likely benign	1	63437808	63437812	Human		name
14731454	CV655118	duplication	NM_013339.4(ALG6):c.-235_-217dup	not provided [RCV000836132]	likely benign	1	63367655	63367656	Human		name
597850033	CV3787715	deletion	NM_013339.4(ALG6):c.83-10_83-6del	ALG6-congenital disorder of glycosylation 1C [RCV005125282]	likely benign	1	63396502	63396506	Human	1	name , trait
127262521	CV1089257	single nucleotide variant	NM_013339.4(ALG6):c.9A>G (p.Lys3=)	ALG6-congenital disorder of glycosylation 1C [RCV001428352]	likely benign	1	63370986	63370986	Human	1	name , trait
127293351	CV1110793	single nucleotide variant	NM_013339.4(ALG6):c.16T>C (p.Leu6=)	ALG6-congenital disorder of glycosylation 1C [RCV001476577]	likely benign	1	63370993	63370993	Human	1	name , trait
152076238	CV1632670	single nucleotide variant	NM_013339.4(ALG6):c.24A>C (p.Thr8=)	ALG6-congenital disorder of glycosylation 1C [RCV002169951]	likely benign	1	63371001	63371001	Human	1	name , trait
152136047	CV1634553	single nucleotide variant	NM_013339.4(ALG6):c.15C>T (p.Tyr5=)	ALG6-congenital disorder of glycosylation 1C [RCV002218730]	likely benign	1	63370992	63370992	Human	1	name , trait
405105011	CV2947715	single nucleotide variant	NM_013339.4(ALG6):c.27A>C (p.Val9=)	ALG6-congenital disorder of glycosylation 1C [RCV003614292]	likely benign	1	63371004	63371004	Human	1	name , trait
127252600	CV1089258	single nucleotide variant	NM_013339.4(ALG6):c.90T>C (p.Gly30=)	ALG6-congenital disorder of glycosylation 1C [RCV001425859]	likely benign	1	63396520	63396520	Human	1	name , trait
127316867	CV1131659	single nucleotide variant	NM_013339.4(ALG6):c.87T>C (p.Ala29=)	ALG6-congenital disorder of glycosylation 1C [RCV001482998]	likely benign	1	63396517	63396517	Human	1	name , trait
151839583	CV1391241	deletion	NM_013339.4(ALG6):c.902+11_902+14del	ALG6-congenital disorder of glycosylation 1C [RCV001977526]	likely benign\|uncertain significance	1	63414154	63414157	Human	1	name , trait
152157077	CV1541701	single nucleotide variant	NM_013339.4(ALG6):c.63G>T (p.Val21=)	ALG6-congenital disorder of glycosylation 1C [RCV002103084]	likely benign	1	63371040	63371040	Human	1	name , trait
152086578	CV1578139	single nucleotide variant	NM_013339.4(ALG6):c.51A>C (p.Val17=)	ALG6-congenital disorder of glycosylation 1C [RCV002171247]	likely benign	1	63371028	63371028	Human	1	name , trait
156409180	CV1877668	single nucleotide variant	NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)	ALG6-congenital disorder of glycosylation 1C [RCV003071559]	uncertain significance	1	63370981	63370981	Human	1	name , trait
156298171	CV1894525	single nucleotide variant	NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)	ALG6-congenital disorder of glycosylation 1C [RCV003087790]	uncertain significance	1	63370983	63370983	Human	1	name , trait
402471563	CV2918597	single nucleotide variant	NM_013339.4(ALG6):c.63G>A (p.Val21=)	ALG6-congenital disorder of glycosylation 1C [RCV003504702]	likely benign	1	63371040	63371040	Human	1	name , trait
405139337	CV3155150	single nucleotide variant	NM_013339.4(ALG6):c.60A>G (p.Thr20=)	ALG6-congenital disorder of glycosylation 1C [RCV003855388]	likely benign	1	63371037	63371037	Human	1	name , trait
402473933	CV3172302	deletion	NM_013339.4(ALG6):c.988-14_988-13del	ALG6-congenital disorder of glycosylation 1C [RCV003874905]	likely benign	1	63419356	63419357	Human	1	name , trait
13783122	CV541235	single nucleotide variant	NM_013339.4(ALG6):c.1A>G (p.Met1Val)	ALG6-congenital disorder of glycosylation 1C [RCV000669716]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	63370978	63370978	Human	1	name , trait
13788982	CV541239	single nucleotide variant	NM_013339.4(ALG6):c.2T>C (p.Met1Thr)	ALG6-congenital disorder of glycosylation 1C [RCV000674262]	likely pathogenic	1	63370979	63370979	Human	1	name , trait
15191903	CV762048	single nucleotide variant	NM_013339.4(ALG6):c.54A>G (p.Arg18=)	ALG6-congenital disorder of glycosylation 1C [RCV000932932]\|ALG6-related disorder [RCV003933173]	likely benign	1	63371031	63371031	Human	1	name , trait , alternate_id
40905017	CV977553	single nucleotide variant	NM_013339.4(ALG6):c.96G>A (p.Pro32=)	ALG6-congenital disorder of glycosylation 1C [RCV001278128]	likely benign	1	63396526	63396526	Human	1	name , trait
127268048	CV1067509	single nucleotide variant	NM_013339.4(ALG6):c.246A>C (p.Leu82=)	ALG6-congenital disorder of glycosylation 1C [RCV001404302]	likely benign	1	63402332	63402332	Human	1	name , trait
127269291	CV1067510	single nucleotide variant	NM_013339.4(ALG6):c.246A>T (p.Leu82=)	ALG6-congenital disorder of glycosylation 1C [RCV001404626]	likely benign	1	63402332	63402332	Human	1	name , trait
127245483	CV1067511	single nucleotide variant	NM_013339.4(ALG6):c.294T>C (p.His98=)	ALG6-congenital disorder of glycosylation 1C [RCV001393877]	likely benign	1	63404489	63404489	Human	1	name , trait
127247635	CV1067512	single nucleotide variant	NM_013339.4(ALG6):c.297A>G (p.Thr99=)	ALG6-congenital disorder of glycosylation 1C [RCV001416934]	likely benign	1	63404492	63404492	Human	1	name , trait
127285889	CV1131660	single nucleotide variant	NM_013339.4(ALG6):c.150T>C (p.Asn50=)	ALG6-congenital disorder of glycosylation 1C [RCV001493803]	likely benign	1	63396580	63396580	Human	1	name , trait
127307160	CV1131661	single nucleotide variant	NM_013339.4(ALG6):c.208T>C (p.Leu70=)	ALG6-congenital disorder of glycosylation 1C [RCV001500397]	likely benign	1	63402294	63402294	Human	1	name , trait
151720309	CV1420808	single nucleotide variant	NM_013339.4(ALG6):c.26T>C (p.Val9Ala)	ALG6-congenital disorder of glycosylation 1C [RCV002039977]	uncertain significance	1	63371003	63371003	Human	1	name , trait
152072631	CV1549444	single nucleotide variant	NM_013339.4(ALG6):c.192T>C (p.Asn64=)	ALG6-congenital disorder of glycosylation 1C [RCV002091798]	likely benign	1	63402278	63402278	Human	1	name , trait
152074687	CV1557681	single nucleotide variant	NM_013339.4(ALG6):c.201T>C (p.Tyr67=)	ALG6-congenital disorder of glycosylation 1C [RCV002130056]	likely benign	1	63402287	63402287	Human	1	name , trait
152076430	CV1581450	single nucleotide variant	NM_013339.4(ALG6):c.129C>T (p.His43=)	ALG6-congenital disorder of glycosylation 1C [RCV002112167]	likely benign	1	63396559	63396559	Human	1	name , trait
152159416	CV1588052	single nucleotide variant	NM_013339.4(ALG6):c.291C>T (p.Leu97=)	ALG6-congenital disorder of glycosylation 1C [RCV002180663]	likely benign	1	63404486	63404486	Human	1	name , trait
152063076	CV1594616	single nucleotide variant	NM_013339.4(ALG6):c.213T>C (p.Asp71=)	ALG6-congenital disorder of glycosylation 1C [RCV002110365]	likely benign	1	63402299	63402299	Human	1	name , trait
152048309	CV1620047	single nucleotide variant	NM_013339.4(ALG6):c.219A>T (p.Pro73=)	ALG6-congenital disorder of glycosylation 1C [RCV002207187]	likely benign	1	63402305	63402305	Human	1	name , trait
152137477	CV1625570	single nucleotide variant	NM_013339.4(ALG6):c.279C>T (p.Asp93=)	ALG6-congenital disorder of glycosylation 1C [RCV002137740]	likely benign	1	63404474	63404474	Human	1	name , trait
155706736	CV1778376	single nucleotide variant	NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)	ALG6-congenital disorder of glycosylation 1C [RCV002295992]	uncertain significance	1	63371000	63371000	Human	1	name , trait
156407587	CV1868667	single nucleotide variant	NM_013339.4(ALG6):c.19A>G (p.Met7Val)	ALG6-congenital disorder of glycosylation 1C [RCV003070927]	uncertain significance	1	63370996	63370996	Human	1	name , trait
155927876	CV1912265	single nucleotide variant	NM_013339.4(ALG6):c.288T>C (p.Ala96=)	ALG6-congenital disorder of glycosylation 1C [RCV002614851]	likely benign	1	63404483	63404483	Human	1	name , trait
156415009	CV1964901	single nucleotide variant	NM_013339.4(ALG6):c.246A>G (p.Leu82=)	ALG6-congenital disorder of glycosylation 1C [RCV002588927]	likely benign	1	63402332	63402332	Human	1	name , trait
156347540	CV1970626	single nucleotide variant	NM_013339.4(ALG6):c.20T>C (p.Met7Thr)	ALG6-congenital disorder of glycosylation 1C [RCV002601600]	uncertain significance	1	63370997	63370997	Human	1	name , trait
155943040	CV2072332	single nucleotide variant	NM_013339.4(ALG6):c.234T>C (p.Tyr78=)	ALG6-congenital disorder of glycosylation 1C [RCV002861903]	likely benign	1	63402320	63402320	Human	1	name , trait
156050722	CV2165202	single nucleotide variant	NM_013339.4(ALG6):c.171T>C (p.Tyr57=)	ALG6-congenital disorder of glycosylation 1C [RCV003019385]	likely benign	1	63402257	63402257	Human	1	name , trait
11581427	CV280991	single nucleotide variant	NM_013339.4(ALG6):c.156G>A (p.Pro52=)	ALG6-congenital disorder of glycosylation 1C [RCV000666953]\|ALG6-related disorder [RCV004755857]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	63396586	63396586	Human	1	name , trait , alternate_id
405107656	CV3022374	single nucleotide variant	NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003614874]	pathogenic	1	63370989	63370989	Human	1	name , trait
405157391	CV3152585	single nucleotide variant	NM_013339.4(ALG6):c.144T>A (p.Thr48=)	ALG6-congenital disorder of glycosylation 1C [RCV003840512]	likely benign	1	63396574	63396574	Human	1	name , trait
405186877	CV3156447	single nucleotide variant	NM_013339.4(ALG6):c.123G>A (p.Gln41=)	ALG6-congenital disorder of glycosylation 1C [RCV003859325]	likely benign	1	63396553	63396553	Human	1	name , trait
402521261	CV3179516	single nucleotide variant	NM_013339.4(ALG6):c.138A>G (p.Glu46=)	ALG6-congenital disorder of glycosylation 1C [RCV003879768]	likely benign	1	63396568	63396568	Human	1	name , trait
597680587	CV3678360	single nucleotide variant	NM_013339.4(ALG6):c.14A>G (p.Tyr5Cys)	Inborn genetic diseases [RCV004982685]	uncertain significance	1	63370991	63370991	Human	1	name
597927660	CV3851381	single nucleotide variant	NM_013339.4(ALG6):c.228A>G (p.Thr76=)	ALG6-congenital disorder of glycosylation 1C [RCV005202157]	likely benign	1	63402314	63402314	Human	1	name , trait
126726129	CV1015776	single nucleotide variant	NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)	ALG6-congenital disorder of glycosylation 1C [RCV001331795]	uncertain significance	1	63371013	63371013	Human	1	name , trait
127279446	CV1067513	single nucleotide variant	NM_013339.4(ALG6):c.480C>T (p.Asp160=)	ALG6-congenital disorder of glycosylation 1C [RCV001409122]	likely benign	1	63407112	63407112	Human	1	name , trait
127282055	CV1067514	single nucleotide variant	NM_013339.4(ALG6):c.618C>T (p.His206=)	ALG6-congenital disorder of glycosylation 1C [RCV001410866]	likely benign\|conflicting interpretations of pathogenicity	1	63411269	63411269	Human	1	name , trait
127250137	CV1067515	single nucleotide variant	NM_013339.4(ALG6):c.693A>G (p.Leu231=)	ALG6-congenital disorder of glycosylation 1C [RCV001399799]	likely benign	1	63411938	63411938	Human	1	name , trait
127258641	CV1067516	single nucleotide variant	NM_013339.4(ALG6):c.741G>T (p.Leu247=)	ALG6-congenital disorder of glycosylation 1C [RCV001419594]	likely benign	1	63411986	63411986	Human	1	name , trait
127251894	CV1067517	single nucleotide variant	NM_013339.4(ALG6):c.750T>C (p.Phe250=)	ALG6-congenital disorder of glycosylation 1C [RCV001417917]	likely benign	1	63411995	63411995	Human	1	name , trait
127260241	CV1067518	single nucleotide variant	NM_013339.4(ALG6):c.798T>G (p.Val266=)	ALG6-congenital disorder of glycosylation 1C [RCV001420007]	likely benign	1	63412043	63412043	Human	1	name , trait
127251075	CV1067519	single nucleotide variant	NM_013339.4(ALG6):c.925C>T (p.Leu309=)	ALG6-congenital disorder of glycosylation 1C [RCV001417707]	likely benign	1	63415895	63415895	Human	1	name , trait
127255116	CV1067520	single nucleotide variant	NM_013339.4(ALG6):c.946T>C (p.Leu316=)	ALG6-congenital disorder of glycosylation 1C [RCV001400924]	likely benign	1	63415916	63415916	Human	1	name , trait
127243496	CV1067522	single nucleotide variant	NM_013339.4(ALG6):c.999G>A (p.Ala333=)	ALG6-congenital disorder of glycosylation 1C [RCV001398385]	likely benign	1	63419381	63419381	Human	1	name , trait
127276517	CV1089260	single nucleotide variant	NM_013339.4(ALG6):c.318G>A (p.Gln106=)	ALG6-congenital disorder of glycosylation 1C [RCV001443836]	likely benign	1	63404513	63404513	Human	1	name , trait
127246671	CV1089261	single nucleotide variant	NM_013339.4(ALG6):c.321A>G (p.Ala107=)	ALG6-congenital disorder of glycosylation 1C [RCV001435474]	likely benign	1	63404516	63404516	Human	1	name , trait
127284029	CV1089262	single nucleotide variant	NM_013339.4(ALG6):c.456G>A (p.Leu152=)	ALG6-congenital disorder of glycosylation 1C [RCV001448927]	likely benign	1	63407088	63407088	Human	1	name , trait
127250778	CV1089263	single nucleotide variant	NM_013339.4(ALG6):c.732C>T (p.Leu244=)	ALG6-congenital disorder of glycosylation 1C [RCV001425439]	likely benign	1	63411977	63411977	Human	1	name , trait
127254493	CV1089264	single nucleotide variant	NM_013339.4(ALG6):c.795G>A (p.Pro265=)	ALG6-congenital disorder of glycosylation 1C [RCV001437257]	likely benign	1	63412040	63412040	Human	1	name , trait
127275755	CV1089265	single nucleotide variant	NM_013339.4(ALG6):c.852C>G (p.Val284=)	ALG6-congenital disorder of glycosylation 1C [RCV001432507]	likely benign	1	63414096	63414096	Human	1	name , trait
127257678	CV1089266	single nucleotide variant	NM_013339.4(ALG6):c.885C>T (p.His295=)	ALG6-congenital disorder of glycosylation 1C [RCV001427159]	likely benign	1	63414129	63414129	Human	1	name , trait
127276186	CV1089267	single nucleotide variant	NM_013339.4(ALG6):c.921G>A (p.Leu307=)	ALG6-congenital disorder of glycosylation 1C [RCV001443702]	likely benign	1	63415891	63415891	Human	1	name , trait
127311725	CV1110795	single nucleotide variant	NM_013339.4(ALG6):c.327G>A (p.Lys109=)	ALG6-congenital disorder of glycosylation 1C [RCV001456986]	likely benign	1	63404522	63404522	Human	1	name , trait
127307579	CV1110796	single nucleotide variant	NM_013339.4(ALG6):c.420T>C (p.Thr140=)	ALG6-congenital disorder of glycosylation 1C [RCV001463079]	likely benign	1	63406390	63406390	Human	1	name , trait
127324269	CV1110797	single nucleotide variant	NM_013339.4(ALG6):c.489T>C (p.His163=)	ALG6-congenital disorder of glycosylation 1C [RCV001468165]	likely benign	1	63407121	63407121	Human	1	name , trait
127296548	CV1110798	single nucleotide variant	NM_013339.4(ALG6):c.561C>T (p.Leu187=)	ALG6-congenital disorder of glycosylation 1C [RCV001477395]	likely benign	1	63411212	63411212	Human	1	name , trait
127302152	CV1110800	single nucleotide variant	NM_013339.4(ALG6):c.771G>A (p.Leu257=)	ALG6-congenital disorder of glycosylation 1C [RCV001454378]	likely benign	1	63412016	63412016	Human	1	name , trait
127286584	CV1131662	single nucleotide variant	NM_013339.4(ALG6):c.357T>G (p.Ala119=)	ALG6-congenital disorder of glycosylation 1C [RCV001494447]	likely benign	1	63406327	63406327	Human	1	name , trait
127313471	CV1131663	single nucleotide variant	NM_013339.4(ALG6):c.420T>A (p.Thr140=)	ALG6-congenital disorder of glycosylation 1C [RCV001502167]	likely benign	1	63406390	63406390	Human	1	name , trait
127303310	CV1131666	single nucleotide variant	NM_013339.4(ALG6):c.564A>G (p.Leu188=)	ALG6-congenital disorder of glycosylation 1C [RCV001499368]	likely benign	1	63411215	63411215	Human	1	name , trait
127292075	CV1131667	single nucleotide variant	NM_013339.4(ALG6):c.660A>G (p.Lys220=)	ALG6-congenital disorder of glycosylation 1C [RCV001496428]	likely benign	1	63411311	63411311	Human	1	name , trait
127327594	CV1131669	single nucleotide variant	NM_013339.4(ALG6):c.915G>T (p.Thr305=)	ALG6-congenital disorder of glycosylation 1C [RCV001486409]	likely benign	1	63415885	63415885	Human	1	name , trait
8658943	CV133802	single nucleotide variant	NM_013339.4(ALG6):c.726C>T (p.Phe242=)	ALG6-congenital disorder of glycosylation 1C [RCV000647907]\|not provided [RCV004713275]\|not specified [RCV000116317]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	63411971	63411971	Human	1	name , trait
8658945	CV133804	single nucleotide variant	NM_013339.4(ALG6):c.981T>C (p.Phe327=)	ALG6-congenital disorder of glycosylation 1C [RCV000380628]\|not provided [RCV004713276]\|not specified [RCV000116319]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	63415951	63415951	Human	1	name , trait
151733156	CV1355692	single nucleotide variant	NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001984415]	uncertain significance	1	63396525	63396525	Human	1	name , trait
151819786	CV1385903	single nucleotide variant	NM_013339.4(ALG6):c.429G>A (p.Lys143=)	ALG6-congenital disorder of glycosylation 1C [RCV002013261]	uncertain significance	1	63406399	63406399	Human	1	name , trait
152090796	CV1525659	single nucleotide variant	NM_013339.4(ALG6):c.879A>G (p.Pro293=)	ALG6-congenital disorder of glycosylation 1C [RCV002150562]	likely benign	1	63414123	63414123	Human	1	name , trait
152162272	CV1543916	single nucleotide variant	NM_013339.4(ALG6):c.459T>C (p.Tyr153=)	ALG6-congenital disorder of glycosylation 1C [RCV002159852]	likely benign	1	63407091	63407091	Human	1	name , trait
152138012	CV1570790	single nucleotide variant	NM_013339.4(ALG6):c.597T>C (p.Tyr199=)	ALG6-congenital disorder of glycosylation 1C [RCV002119974]	likely benign	1	63411248	63411248	Human	1	name , trait
152037396	CV1572034	single nucleotide variant	NM_013339.4(ALG6):c.621C>A (p.Ala207=)	ALG6-congenital disorder of glycosylation 1C [RCV002205823]	likely benign	1	63411272	63411272	Human	1	name , trait
152030810	CV1580891	single nucleotide variant	NM_013339.4(ALG6):c.804T>C (p.Arg268=)	ALG6-congenital disorder of glycosylation 1C [RCV002086227]	likely benign	1	63412049	63412049	Human	1	name , trait
152127299	CV1581067	single nucleotide variant	NM_013339.4(ALG6):c.915G>C (p.Thr305=)	ALG6-congenital disorder of glycosylation 1C [RCV002098996]	likely benign	1	63415885	63415885	Human	1	name , trait
152052218	CV1587220	single nucleotide variant	NM_013339.4(ALG6):c.888C>T (p.Ile296=)	ALG6-congenital disorder of glycosylation 1C [RCV002145825]	likely benign	1	63414132	63414132	Human	1	name , trait
152136470	CV1595147	single nucleotide variant	NM_013339.4(ALG6):c.720T>G (p.Ala240=)	ALG6-congenital disorder of glycosylation 1C [RCV002200009]	likely benign	1	63411965	63411965	Human	1	name , trait
152151670	CV1598333	single nucleotide variant	NM_013339.4(ALG6):c.630T>C (p.Phe210=)	ALG6-congenital disorder of glycosylation 1C [RCV002121834]	likely benign	1	63411281	63411281	Human	1	name , trait
152036335	CV1605338	single nucleotide variant	NM_013339.4(ALG6):c.735C>T (p.Cys245=)	ALG6-congenital disorder of glycosylation 1C [RCV002107043]	likely benign	1	63411980	63411980	Human	1	name , trait
152082110	CV1607948	single nucleotide variant	NM_013339.4(ALG6):c.708T>C (p.Cys236=)	ALG6-congenital disorder of glycosylation 1C [RCV002193157]	likely benign	1	63411953	63411953	Human	1	name , trait
152099385	CV1611879	single nucleotide variant	NM_013339.4(ALG6):c.474T>C (p.Leu158=)	ALG6-congenital disorder of glycosylation 1C [RCV002172895]	likely benign	1	63407106	63407106	Human	1	name , trait
152049248	CV1615110	single nucleotide variant	NM_013339.4(ALG6):c.366G>C (p.Leu122=)	ALG6-congenital disorder of glycosylation 1C [RCV002088937]	likely benign	1	63406336	63406336	Human	1	name , trait
152042455	CV1618054	single nucleotide variant	NM_013339.4(ALG6):c.828C>G (p.Ala276=)	ALG6-congenital disorder of glycosylation 1C [RCV002206527]	likely benign	1	63414072	63414072	Human	1	name , trait
152081326	CV1619479	single nucleotide variant	NM_013339.4(ALG6):c.927G>C (p.Leu309=)	ALG6-congenital disorder of glycosylation 1C [RCV002092884]	likely benign	1	63415897	63415897	Human	1	name , trait
152142219	CV1636358	single nucleotide variant	NM_013339.4(ALG6):c.447C>T (p.Cys149=)	ALG6-congenital disorder of glycosylation 1C [RCV002120530]	likely benign	1	63407079	63407079	Human	1	name , trait
152074660	CV1638265	single nucleotide variant	NM_013339.4(ALG6):c.531T>A (p.Gly177=)	ALG6-congenital disorder of glycosylation 1C [RCV002192251]	likely benign	1	63411182	63411182	Human	1	name , trait
152074888	CV1638311	single nucleotide variant	NM_013339.4(ALG6):c.762A>G (p.Glu254=)	ALG6-congenital disorder of glycosylation 1C [RCV002192278]	likely benign	1	63412007	63412007	Human	1	name , trait
152148267	CV1653913	single nucleotide variant	NM_013339.4(ALG6):c.546T>C (p.Ser182=)	ALG6-congenital disorder of glycosylation 1C [RCV002139130]	likely benign	1	63411197	63411197	Human	1	name , trait
152028157	CV1655099	single nucleotide variant	NM_013339.4(ALG6):c.985C>T (p.Leu329=)	ALG6-congenital disorder of glycosylation 1C [RCV002105138]	likely benign	1	63415955	63415955	Human	1	name , trait
152107405	CV1657305	single nucleotide variant	NM_013339.4(ALG6):c.576A>G (p.Ala192=)	ALG6-congenital disorder of glycosylation 1C [RCV002215003]	likely benign	1	63411227	63411227	Human	1	name , trait
152030528	CV1660588	single nucleotide variant	NM_013339.4(ALG6):c.342A>C (p.Thr114=)	ALG6-congenital disorder of glycosylation 1C [RCV002105940]	likely benign	1	63404537	63404537	Human	1	name , trait
155724493	CV1783395	deletion	NM_013339.4(ALG6):c.232del (p.Tyr78fs)	ALG6-congenital disorder of glycosylation 1C [RCV002306839]	likely pathogenic	1	63402317	63402317	Human	1	name , trait
156378926	CV1997554	single nucleotide variant	NM_013339.4(ALG6):c.864T>A (p.Ile288=)	ALG6-congenital disorder of glycosylation 1C [RCV002653519]	likely benign	1	63414108	63414108	Human	1	name , trait
156022303	CV2025485	single nucleotide variant	NM_013339.4(ALG6):c.507G>A (p.Val169=)	ALG6-congenital disorder of glycosylation 1C [RCV002735434]	likely benign	1	63411158	63411158	Human	1	name , trait
156248874	CV2040959	single nucleotide variant	NM_013339.4(ALG6):c.960C>T (p.Pro320=)	ALG6-congenital disorder of glycosylation 1C [RCV002805936]	likely benign	1	63415930	63415930	Human	1	name , trait
156298312	CV2069768	single nucleotide variant	NM_013339.4(ALG6):c.714T>C (p.Val238=)	ALG6-congenital disorder of glycosylation 1C [RCV002833500]	uncertain significance	1	63411959	63411959	Human	1	name , trait
155959665	CV2078638	single nucleotide variant	NM_013339.4(ALG6):c.843C>T (p.Ser281=)	ALG6-congenital disorder of glycosylation 1C [RCV002880956]	uncertain significance	1	63414087	63414087	Human	1	name , trait
156215600	CV2085340	single nucleotide variant	NM_013339.4(ALG6):c.303T>A (p.Arg101=)	ALG6-congenital disorder of glycosylation 1C [RCV002893977]	likely benign	1	63404498	63404498	Human	1	name , trait
156116362	CV2086426	single nucleotide variant	NM_013339.4(ALG6):c.504T>C (p.Ser168=)	ALG6-congenital disorder of glycosylation 1C [RCV002871092]	likely benign	1	63411155	63411155	Human	1	name , trait
156059826	CV2098428	single nucleotide variant	NM_013339.4(ALG6):c.919T>C (p.Leu307=)	ALG6-congenital disorder of glycosylation 1C [RCV002886468]	likely benign	1	63415889	63415889	Human	1	name , trait
156008379	CV2099885	single nucleotide variant	NM_013339.4(ALG6):c.510T>C (p.Ser170=)	ALG6-congenital disorder of glycosylation 1C [RCV002908968]	likely benign	1	63411161	63411161	Human	1	name , trait
156150935	CV2124906	single nucleotide variant	NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)	ALG6-congenital disorder of glycosylation 1C [RCV002928900]	uncertain significance	1	63371021	63371021	Human	1	name , trait
155948403	CV2127292	single nucleotide variant	NM_013339.4(ALG6):c.780A>G (p.Leu260=)	ALG6-congenital disorder of glycosylation 1C [RCV002971718]	likely benign	1	63412025	63412025	Human	1	name , trait
156114959	CV2150461	single nucleotide variant	NM_013339.4(ALG6):c.999G>C (p.Ala333=)	ALG6-congenital disorder of glycosylation 1C [RCV003021565]	likely benign	1	63419381	63419381	Human	1	name , trait
156291333	CV2156313	single nucleotide variant	NM_013339.4(ALG6):c.867G>A (p.Lys289=)	ALG6-congenital disorder of glycosylation 1C [RCV003009982]	likely benign	1	63414111	63414111	Human	1	name , trait
156108519	CV2177181	single nucleotide variant	NM_013339.4(ALG6):c.987G>A (p.Leu329=)	ALG6-congenital disorder of glycosylation 1C [RCV003054999]	uncertain significance	1	63415957	63415957	Human	1	name , trait
11646627	CV281603	single nucleotide variant	NM_013339.4(ALG6):c.495A>G (p.Gln165=)	ALG6-congenital disorder of glycosylation 1C [RCV000669601]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	63411146	63411146	Human	1	name , trait
401941232	CV2835772	single nucleotide variant	NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003461548]	likely pathogenic	1	63371034	63371034	Human	1	name , trait
402476909	CV2866942	single nucleotide variant	NM_013339.4(ALG6):c.892T>C (p.Leu298=)	ALG6-congenital disorder of glycosylation 1C [RCV003505899]	likely benign	1	63414136	63414136	Human	1	name , trait
402477046	CV2874543	single nucleotide variant	NM_013339.4(ALG6):c.798T>C (p.Val266=)	ALG6-congenital disorder of glycosylation 1C [RCV003505923]	likely benign	1	63412043	63412043	Human	1	name , trait
402478204	CV2880441	single nucleotide variant	NM_013339.4(ALG6):c.435T>A (p.Ala145=)	ALG6-congenital disorder of glycosylation 1C [RCV003506130]	likely benign	1	63407067	63407067	Human	1	name , trait
402471587	CV2918902	deletion	NM_013339.4(ALG6):c.147del (p.Phe49fs)	ALG6-congenital disorder of glycosylation 1C [RCV003504709]	pathogenic	1	63396574	63396574	Human	1	name , trait
402475361	CV2929638	duplication	NM_013339.4(ALG6):c.226dup (p.Thr76fs)	ALG6-congenital disorder of glycosylation 1C [RCV003505611]	pathogenic	1	63402311	63402312	Human	1	name , trait
402475560	CV2933114	single nucleotide variant	NM_013339.4(ALG6):c.622T>C (p.Leu208=)	ALG6-congenital disorder of glycosylation 1C [RCV003505649]	likely benign	1	63411273	63411273	Human	1	name , trait
405105111	CV2945183	single nucleotide variant	NM_013339.4(ALG6):c.699G>A (p.Lys233=)	ALG6-congenital disorder of glycosylation 1C [RCV003614314]	likely benign	1	63411944	63411944	Human	1	name , trait
405105175	CV2948519	single nucleotide variant	NM_013339.4(ALG6):c.552C>T (p.Asp184=)	ALG6-congenital disorder of glycosylation 1C [RCV003614328]	likely benign	1	63411203	63411203	Human	1	name , trait
405105720	CV2951365	single nucleotide variant	NM_013339.4(ALG6):c.600A>G (p.Lys200=)	ALG6-congenital disorder of glycosylation 1C [RCV003614447]	likely benign	1	63411251	63411251	Human	1	name , trait
405091417	CV2977757	single nucleotide variant	NM_013339.4(ALG6):c.562C>T (p.Leu188=)	ALG6-congenital disorder of glycosylation 1C [RCV003613759]	likely benign	1	63411213	63411213	Human	1	name , trait
405091540	CV2988087	single nucleotide variant	NM_013339.4(ALG6):c.442T>C (p.Leu148=)	ALG6-congenital disorder of glycosylation 1C [RCV003613769]	likely benign	1	63407074	63407074	Human	1	name , trait
405093763	CV3001736	single nucleotide variant	NM_013339.4(ALG6):c.984A>G (p.Thr328=)	ALG6-congenital disorder of glycosylation 1C [RCV003613951]	likely benign	1	63415954	63415954	Human	1	name , trait
405106703	CV3012491	single nucleotide variant	NM_013339.4(ALG6):c.723C>G (p.Ser241=)	ALG6-congenital disorder of glycosylation 1C [RCV003614682]	likely benign	1	63411968	63411968	Human	1	name , trait
405107639	CV3022224	single nucleotide variant	NM_013339.4(ALG6):c.454C>T (p.Leu152=)	ALG6-congenital disorder of glycosylation 1C [RCV003614870]	likely benign	1	63407086	63407086	Human	1	name , trait
405108597	CV3043008	single nucleotide variant	NM_013339.4(ALG6):c.774G>A (p.Gln258=)	ALG6-congenital disorder of glycosylation 1C [RCV003615096]	likely benign	1	63412019	63412019	Human	1	name , trait
405108691	CV3050029	single nucleotide variant	NM_013339.4(ALG6):c.636C>T (p.Cys212=)	ALG6-congenital disorder of glycosylation 1C [RCV003615116]	likely benign	1	63411287	63411287	Human	1	name , trait
405110040	CV3070277	single nucleotide variant	NM_013339.4(ALG6):c.546T>G (p.Ser182=)	ALG6-congenital disorder of glycosylation 1C [RCV003615404]	likely benign	1	63411197	63411197	Human	1	name , trait
405110587	CV3077155	single nucleotide variant	NM_013339.4(ALG6):c.999G>T (p.Ala333=)	ALG6-congenital disorder of glycosylation 1C [RCV003615481]	likely benign	1	63419381	63419381	Human	1	name , trait
405105172	CV3139842	single nucleotide variant	NM_013339.4(ALG6):c.984A>C (p.Thr328=)	ALG6-congenital disorder of glycosylation 1C [RCV003835253]	likely benign	1	63415954	63415954	Human	1	name , trait
405180932	CV3147511	single nucleotide variant	NM_013339.4(ALG6):c.651G>A (p.Lys217=)	ALG6-congenital disorder of glycosylation 1C [RCV003842413]	likely benign	1	63411302	63411302	Human	1	name , trait
405236905	CV3166569	single nucleotide variant	NM_013339.4(ALG6):c.769C>T (p.Leu257=)	ALG6-congenital disorder of glycosylation 1C [RCV003854018]	likely benign	1	63412014	63412014	Human	1	name , trait
597665746	CV3720790	single nucleotide variant	NM_013339.4(ALG6):c.91A>T (p.Lys31Ter)	ALG6-congenital disorder of glycosylation 1C [RCV005028959]	likely pathogenic	1	63396521	63396521	Human	1	name , trait
597836427	CV3766061	single nucleotide variant	NM_013339.4(ALG6):c.519T>C (p.Phe173=)	ALG6-congenital disorder of glycosylation 1C [RCV005108193]	likely benign	1	63411170	63411170	Human	1	name , trait
597863938	CV3797473	single nucleotide variant	NM_013339.4(ALG6):c.705T>C (p.Ala235=)	ALG6-congenital disorder of glycosylation 1C [RCV005138160]	likely benign	1	63411950	63411950	Human	1	name , trait
597904716	CV3839644	single nucleotide variant	NM_013339.4(ALG6):c.627A>G (p.Pro209=)	ALG6-congenital disorder of glycosylation 1C [RCV005179536]	likely benign	1	63411278	63411278	Human	1	name , trait
597929053	CV3850029	single nucleotide variant	NM_013339.4(ALG6):c.819T>C (p.Asp273=)	ALG6-congenital disorder of glycosylation 1C [RCV005203376]	likely benign	1	63414063	63414063	Human	1	name , trait
13541173	CV498545	single nucleotide variant	NM_013339.4(ALG6):c.963T>A (p.Ser321=)	ALG6-congenital disorder of glycosylation 1C [RCV000904091]\|ALG6-related disorder [RCV004755988]\|not provided [RCV003411456]\|not specified [RCV000615783]	likely benign	1	63415933	63415933	Human	1	name , trait , alternate_id
13526154	CV498569	single nucleotide variant	NM_013339.4(ALG6):c.669C>T (p.Leu223=)	ALG6-congenital disorder of glycosylation 1C [RCV001476067]\|not specified [RCV000603746]	likely benign	1	63411320	63411320	Human	1	name , trait
13785096	CV541218	single nucleotide variant	NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	ALG6-congenital disorder of glycosylation 1C [RCV000671624]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	63371029	63371029	Human	1	name , trait
13791908	CV541327	single nucleotide variant	NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)	ALG6-congenital disorder of glycosylation 1C [RCV000668050]\|not provided [RCV002225711]\|not specified [RCV003226356]	likely pathogenic\|uncertain significance	1	63371030	63371030	Human	1	name , trait
15147480	CV732550	single nucleotide variant	NM_013339.4(ALG6):c.915G>A (p.Thr305=)	ALG6-congenital disorder of glycosylation 1C [RCV000900527]	likely benign	1	63415885	63415885	Human	1	name , trait
15197457	CV746610	single nucleotide variant	NM_013339.4(ALG6):c.483T>C (p.Tyr161=)	ALG6-congenital disorder of glycosylation 1C [RCV000911979]	likely benign	1	63407115	63407115	Human	1	name , trait
15130857	CV746611	single nucleotide variant	NM_013339.4(ALG6):c.555C>T (p.Cys185=)	ALG6-congenital disorder of glycosylation 1C [RCV000920080]	likely benign	1	63411206	63411206	Human	1	name , trait
26919669	CV824346	single nucleotide variant	NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001059196]	uncertain significance	1	63371014	63371014	Human	1	name , trait
26887719	CV824347	deletion	NM_013339.4(ALG6):c.290del (p.Leu97fs)	ALG6-congenital disorder of glycosylation 1C [RCV001044983]	pathogenic	1	63404485	63404485	Human	1	name , trait
28888913	CV864691	single nucleotide variant	NM_013339.4(ALG6):c.450C>A (p.Ile150=)	ALG6-congenital disorder of glycosylation 1C [RCV001099244]	conflicting interpretations of pathogenicity\|uncertain significance	1	63407082	63407082	Human	1	name , trait
28888918	CV864692	single nucleotide variant	NM_013339.4(ALG6):c.648C>G (p.Gly216=)	ALG6-congenital disorder of glycosylation 1C [RCV001099245]	conflicting interpretations of pathogenicity\|uncertain significance	1	63411299	63411299	Human	1	name , trait
28894100	CV864693	single nucleotide variant	NM_013339.4(ALG6):c.882T>C (p.Arg294=)	ALG6-congenital disorder of glycosylation 1C [RCV001101245]	conflicting interpretations of pathogenicity\|uncertain significance	1	63414126	63414126	Human	1	name , trait
38480150	CV930641	single nucleotide variant	NM_013339.4(ALG6):c.891A>G (p.Gln297=)	ALG6-congenital disorder of glycosylation 1C [RCV001206273]	likely benign\|uncertain significance	1	63414135	63414135	Human	1	name , trait
8642443	CV101426	single nucleotide variant	NM_013339.4(ALG6):c.127C>A (p.His43Asn)	not provided [RCV000081555]	uncertain significance	1	63396557	63396557	Human		name
8642444	CV101427	single nucleotide variant	NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)	ALG6-congenital disorder of glycosylation 1C [RCV000341157]\|ALG6-related disorder [RCV003915082]\|not provided [RCV003407462]\|not specified [RCV000081556]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	1	63429123	63429123	Human	1	name , trait , alternate_id
127257006	CV1067524	single nucleotide variant	NM_013339.4(ALG6):c.1386T>C (p.Pro462=)	ALG6-congenital disorder of glycosylation 1C [RCV001419160]	likely benign	1	63436882	63436882	Human	1	name , trait
127266958	CV1089268	single nucleotide variant	NM_013339.4(ALG6):c.1005A>G (p.Ser335=)	ALG6-congenital disorder of glycosylation 1C [RCV001440410]	likely benign	1	63419387	63419387	Human	1	name , trait
127281045	CV1089269	single nucleotide variant	NM_013339.4(ALG6):c.1011T>C (p.Phe337=)	ALG6-congenital disorder of glycosylation 1C [RCV001446864]	likely benign	1	63419393	63419393	Human	1	name , trait
127279764	CV1089273	single nucleotide variant	NM_013339.4(ALG6):c.1173T>G (p.Val391=)	ALG6-congenital disorder of glycosylation 1C [RCV001445980]	likely benign	1	63428973	63428973	Human	1	name , trait
127249903	CV1089274	single nucleotide variant	NM_013339.4(ALG6):c.1362G>A (p.Thr454=)	ALG6-congenital disorder of glycosylation 1C [RCV001425254]	likely benign	1	63436858	63436858	Human	1	name , trait
127275530	CV1089275	single nucleotide variant	NM_013339.4(ALG6):c.1413T>G (p.Ser471=)	ALG6-congenital disorder of glycosylation 1C [RCV001443361]	likely benign	1	63436909	63436909	Human	1	name , trait
127242278	CV1089276	single nucleotide variant	NM_013339.4(ALG6):c.1422G>A (p.Val474=)	ALG6-congenital disorder of glycosylation 1C [RCV001423703]	likely benign	1	63436918	63436918	Human	1	name , trait
127266859	CV1089277	single nucleotide variant	NM_013339.4(ALG6):c.1509G>A (p.Gln503=)	ALG6-congenital disorder of glycosylation 1C [RCV001429492]	likely benign	1	63437005	63437005	Human	1	name , trait
127299908	CV1110801	single nucleotide variant	NM_013339.4(ALG6):c.1320A>G (p.Gln440=)	ALG6-congenital disorder of glycosylation 1C [RCV001460973]	likely benign	1	63429120	63429120	Human	1	name , trait
127322074	CV1110803	single nucleotide variant	NM_013339.4(ALG6):c.1359G>A (p.Leu453=)	ALG6-congenital disorder of glycosylation 1C [RCV001467447]	likely benign	1	63436855	63436855	Human	1	name , trait
127316830	CV1110804	single nucleotide variant	NM_013339.4(ALG6):c.1363T>C (p.Leu455=)	ALG6-congenital disorder of glycosylation 1C [RCV001465645]	likely benign	1	63436859	63436859	Human	1	name , trait
127289441	CV1131670	single nucleotide variant	NM_013339.4(ALG6):c.1029A>G (p.Val343=)	ALG6-congenital disorder of glycosylation 1C [RCV001495631]	likely benign	1	63419411	63419411	Human	1	name , trait
127323327	CV1131671	single nucleotide variant	NM_013339.4(ALG6):c.1159C>T (p.Leu387=)	ALG6-congenital disorder of glycosylation 1C [RCV001505386]	likely benign	1	63428959	63428959	Human	1	name , trait
150549196	CV1295013	single nucleotide variant	NM_013339.4(ALG6):c.264G>T (p.Lys88Asn)	not provided [RCV001764974]	uncertain significance	1	63404459	63404459	Human		name
151812532	CV1343537	deletion	NM_013339.4(ALG6):c.723del (p.Phe242fs)	ALG6-congenital disorder of glycosylation 1C [RCV001918753]	pathogenic	1	63411967	63411967	Human	1	name , trait
151785018	CV1344765	single nucleotide variant	NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)	ALG6-congenital disorder of glycosylation 1C [RCV001989484]	uncertain significance	1	63396560	63396560	Human	1	name , trait
151868344	CV1366883	deletion	NM_013339.4(ALG6):c.684del (p.Phe228fs)	ALG6-congenital disorder of glycosylation 1C [RCV001939453]	pathogenic\|likely pathogenic	1	63411927	63411927	Human	1	name , trait
151782605	CV1381568	single nucleotide variant	NM_013339.4(ALG6):c.178A>C (p.Ser60Arg)	ALG6-congenital disorder of glycosylation 1C [RCV001875504]	uncertain significance	1	63402264	63402264	Human	1	name , trait
151809306	CV1384180	single nucleotide variant	NM_013339.4(ALG6):c.227C>T (p.Thr76Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001878101]	uncertain significance	1	63402313	63402313	Human	1	name , trait
151762447	CV1393640	deletion	NM_013339.4(ALG6):c.510del (p.Gly172fs)	ALG6-congenital disorder of glycosylation 1C [RCV001949308]	pathogenic	1	63411161	63411161	Human	1	name , trait
151860748	CV1400347	single nucleotide variant	NM_013339.4(ALG6):c.278A>G (p.Asp93Gly)	ALG6-congenital disorder of glycosylation 1C [RCV001997103]	uncertain significance	1	63404473	63404473	Human	1	name , trait
151788618	CV1413053	single nucleotide variant	NM_013339.4(ALG6):c.218C>T (p.Pro73Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001989853]	uncertain significance	1	63402304	63402304	Human	1	name , trait
151822563	CV1418865	single nucleotide variant	NM_013339.4(ALG6):c.100A>C (p.Met34Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001954904]	uncertain significance	1	63396530	63396530	Human	1	name , trait
151835952	CV1436410	deletion	NM_013339.4(ALG6):c.791del (p.Phe264fs)	ALG6-congenital disorder of glycosylation 1C [RCV002014787]	pathogenic	1	63412035	63412035	Human	1	name , trait
151739120	CV1454719	deletion	NM_013339.4(ALG6):c.428del (p.Lys143fs)	ALG6-congenital disorder of glycosylation 1C [RCV001946923]	pathogenic\|likely pathogenic	1	63406394	63406394	Human	1	name , trait
151780132	CV1467853	deletion	NM_013339.4(ALG6):c.574del (p.Ala192fs)	ALG6-congenital disorder of glycosylation 1C [RCV001972002]	pathogenic	1	63411224	63411224	Human	1	name , trait
151835361	CV1471452	single nucleotide variant	NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)	ALG6-congenital disorder of glycosylation 1C [RCV001956103]	pathogenic	1	63396551	63396551	Human	1	name , trait
151725183	CV1474593	deletion	NM_013339.4(ALG6):c.835del (p.Trp279fs)	ALG6-congenital disorder of glycosylation 1C [RCV001945430]	pathogenic	1	63414077	63414077	Human	1	name , trait
151832673	CV1480567	single nucleotide variant	NM_013339.4(ALG6):c.272A>G (p.Asn91Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001935213]	uncertain significance	1	63404467	63404467	Human	1	name , trait
151872060	CV1480603	single nucleotide variant	NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter)	ALG6-congenital disorder of glycosylation 1C [RCV001906618]	pathogenic	1	63402257	63402257	Human	1	name , trait
151786519	CV1504505	deletion	NM_013339.4(ALG6):c.634del (p.Cys212fs)	ALG6-congenital disorder of glycosylation 1C [RCV001951604]	pathogenic	1	63411279	63411279	Human	1	name , trait
151756825	CV1513783	single nucleotide variant	NM_013339.4(ALG6):c.237T>G (p.His79Gln)	ALG6-congenital disorder of glycosylation 1C [RCV001928065]	uncertain significance	1	63402323	63402323	Human	1	name , trait
152065027	CV1525902	single nucleotide variant	NM_013339.4(ALG6):c.1254G>A (p.Leu418=)	ALG6-congenital disorder of glycosylation 1C [RCV002128852]	likely benign	1	63429054	63429054	Human	1	name , trait
152136290	CV1528448	single nucleotide variant	NM_013339.4(ALG6):c.1176G>A (p.Val392=)	ALG6-congenital disorder of glycosylation 1C [RCV002100161]	likely benign	1	63428976	63428976	Human	1	name , trait
152174859	CV1536097	single nucleotide variant	NM_013339.4(ALG6):c.1353G>C (p.Val451=)	ALG6-congenital disorder of glycosylation 1C [RCV002163294]	likely benign	1	63436849	63436849	Human	1	name , trait
152049751	CV1540375	single nucleotide variant	NM_013339.4(ALG6):c.1116G>A (p.Val372=)	ALG6-congenital disorder of glycosylation 1C [RCV002108801]	likely benign	1	63428790	63428790	Human	1	name , trait
152126450	CV1544763	single nucleotide variant	NM_013339.4(ALG6):c.1266C>T (p.Ser422=)	ALG6-congenital disorder of glycosylation 1C [RCV002154937]	likely benign	1	63429066	63429066	Human	1	name , trait
152123953	CV1563974	single nucleotide variant	NM_013339.4(ALG6):c.1449G>A (p.Leu483=)	ALG6-congenital disorder of glycosylation 1C [RCV002175946]	likely benign	1	63436945	63436945	Human	1	name , trait
152084028	CV1576941	single nucleotide variant	NM_013339.4(ALG6):c.1266C>A (p.Ser422=)	ALG6-congenital disorder of glycosylation 1C [RCV002193394]	likely benign	1	63429066	63429066	Human	1	name , trait
152086199	CV1599434	single nucleotide variant	NM_013339.4(ALG6):c.1296T>C (p.Phe432=)	ALG6-congenital disorder of glycosylation 1C [RCV002093517]	likely benign	1	63429096	63429096	Human	1	name , trait
152161315	CV1606140	single nucleotide variant	NM_013339.4(ALG6):c.1200T>C (p.Ala400=)	ALG6-congenital disorder of glycosylation 1C [RCV002180984]	likely benign	1	63429000	63429000	Human	1	name , trait
152148858	CV1616638	single nucleotide variant	NM_013339.4(ALG6):c.1047C>T (p.Leu349=)	ALG6-congenital disorder of glycosylation 1C [RCV002201654]	likely benign	1	63419429	63419429	Human	1	name , trait
152176524	CV1631491	single nucleotide variant	NM_013339.4(ALG6):c.1275G>A (p.Val425=)	ALG6-congenital disorder of glycosylation 1C [RCV002164669]	likely benign	1	63429075	63429075	Human	1	name , trait
152029733	CV1653441	single nucleotide variant	NM_013339.4(ALG6):c.1347T>C (p.Thr449=)	ALG6-congenital disorder of glycosylation 1C [RCV002085902]	likely benign	1	63436843	63436843	Human	1	name , trait
152172406	CV1660248	single nucleotide variant	NM_013339.4(ALG6):c.1479T>A (p.Ile493=)	ALG6-congenital disorder of glycosylation 1C [RCV002162442]	likely benign	1	63436975	63436975	Human	1	name , trait
152113409	CV1665304	single nucleotide variant	NM_013339.4(ALG6):c.1476T>C (p.Ile492=)	ALG6-congenital disorder of glycosylation 1C [RCV002097154]	likely benign	1	63436972	63436972	Human	1	name , trait
153000463	CV1683077	single nucleotide variant	NM_013339.4(ALG6):c.103T>A (p.Phe35Ile)	See cases [RCV002253087]	uncertain significance	1	63396533	63396533	Human		name
155735331	CV1782950	deletion	NM_013339.4(ALG6):c.657del (p.Phe219fs)	ALG6-congenital disorder of glycosylation 1C [RCV002309107]	likely pathogenic	1	63411305	63411305	Human	1	name , trait
156318841	CV1876190	single nucleotide variant	NM_013339.4(ALG6):c.1272T>A (p.Ser424=)	ALG6-congenital disorder of glycosylation 1C [RCV003062928]	likely benign	1	63429072	63429072	Human	1	name , trait
156318016	CV1879867	single nucleotide variant	NM_013339.4(ALG6):c.100A>G (p.Met34Val)	ALG6-congenital disorder of glycosylation 1C [RCV003062877]	uncertain significance	1	63396530	63396530	Human	1	name , trait
156384111	CV1881591	single nucleotide variant	NM_013339.4(ALG6):c.1116G>T (p.Val372=)	ALG6-congenital disorder of glycosylation 1C [RCV003067413]	likely benign	1	63428790	63428790	Human	1	name , trait
155989369	CV1894204	single nucleotide variant	NM_013339.4(ALG6):c.256G>A (p.Val86Met)	ALG6-congenital disorder of glycosylation 1C [RCV003076041]	uncertain significance	1	63402342	63402342	Human	1	name , trait
155991345	CV1894369	single nucleotide variant	NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)	ALG6-congenital disorder of glycosylation 1C [RCV003076128]	uncertain significance	1	63396581	63396581	Human	1	name , trait
156375355	CV1899406	single nucleotide variant	NM_013339.4(ALG6):c.1134A>G (p.Leu378=)	ALG6-congenital disorder of glycosylation 1C [RCV003092816]	likely benign	1	63428934	63428934	Human	1	name , trait
156294052	CV1908266	single nucleotide variant	NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)	ALG6-congenital disorder of glycosylation 1C [RCV002598872]	uncertain significance	1	63396567	63396567	Human	1	name , trait
156157198	CV1928189	single nucleotide variant	NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)	ALG6-congenital disorder of glycosylation 1C [RCV002664108]	uncertain significance	1	63396534	63396534	Human	1	name , trait
156412015	CV1969118	single nucleotide variant	NM_013339.4(ALG6):c.1257A>G (p.Lys419=)	ALG6-congenital disorder of glycosylation 1C [RCV002587678]	likely benign	1	63429057	63429057	Human	1	name , trait
156289544	CV1998106	single nucleotide variant	NM_013339.4(ALG6):c.1290A>G (p.Pro430=)	ALG6-congenital disorder of glycosylation 1C [RCV002647137]	likely benign	1	63429090	63429090	Human	1	name , trait
10404189	CV206835	single nucleotide variant	NM_013339.4(ALG6):c.1314T>C (p.Ile438=)	ALG6-congenital disorder of glycosylation 1C [RCV000888485]\|not specified [RCV000194445]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	63429114	63429114	Human	1	name , trait
156061627	CV2069265	single nucleotide variant	NM_013339.4(ALG6):c.1242A>G (p.Glu414=)	ALG6-congenital disorder of glycosylation 1C [RCV002846795]	likely benign	1	63429042	63429042	Human	1	name , trait
156214462	CV2070578	single nucleotide variant	NM_013339.4(ALG6):c.1203T>C (p.Cys401=)	ALG6-congenital disorder of glycosylation 1C [RCV002829434]	likely benign	1	63429003	63429003	Human	1	name , trait
156210266	CV2074199	single nucleotide variant	NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)	ALG6-congenital disorder of glycosylation 1C [RCV002829270]	uncertain significance	1	63396584	63396584	Human	1	name , trait
155955067	CV2077539	single nucleotide variant	NM_013339.4(ALG6):c.1344C>T (p.Ile448=)	ALG6-congenital disorder of glycosylation 1C [RCV002880717]	likely benign	1	63436840	63436840	Human	1	name , trait
156314104	CV2089535	single nucleotide variant	NM_013339.4(ALG6):c.1005A>T (p.Ser335=)	ALG6-congenital disorder of glycosylation 1C [RCV002898886]	likely benign	1	63419387	63419387	Human	1	name , trait
156019006	CV2114721	single nucleotide variant	NM_013339.4(ALG6):c.1371T>C (p.Thr457=)	ALG6-congenital disorder of glycosylation 1C [RCV002909519]	likely benign	1	63436867	63436867	Human	1	name , trait
155972729	CV2135854	single nucleotide variant	NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)	ALG6-congenital disorder of glycosylation 1C [RCV002995705]\|Inborn genetic diseases [RCV002995706]\|not provided [RCV004691500]	uncertain significance	1	63404477	63404477	Human	2	name , trait
156049518	CV2140665	single nucleotide variant	NM_013339.4(ALG6):c.236A>T (p.His79Leu)	ALG6-congenital disorder of glycosylation 1C [RCV002999823]	uncertain significance	1	63402322	63402322	Human	1	name , trait
156122763	CV2148116	single nucleotide variant	NM_013339.4(ALG6):c.1260C>A (p.Ser420=)	ALG6-congenital disorder of glycosylation 1C [RCV003003048]	likely benign	1	63429060	63429060	Human	1	name , trait
156347140	CV2172734	duplication	NM_013339.4(ALG6):c.663dup (p.Gly222fs)	ALG6-congenital disorder of glycosylation 1C [RCV003030621]	pathogenic	1	63411308	63411309	Human	1	name , trait
156069333	CV2176294	single nucleotide variant	NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)	ALG6-congenital disorder of glycosylation 1C [RCV003053668]	uncertain significance	1	63402266	63402266	Human	1	name , trait
156350022	CV2189532	single nucleotide variant	NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)	ALG6-congenital disorder of glycosylation 1C [RCV003048261]	uncertain significance	1	63402264	63402264	Human	1	name , trait
401941237	CV2835783	single nucleotide variant	NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003461553]	pathogenic\|likely pathogenic	1	63396544	63396544	Human	1	name , trait
401941250	CV2835804	deletion	NM_013339.4(ALG6):c.493del (p.Gln165fs)	ALG6-congenital disorder of glycosylation 1C [RCV003461566]	likely pathogenic	1	63407125	63407125	Human	1	name , trait
401941255	CV2835812	deletion	NM_013339.4(ALG6):c.663del (p.Gly222fs)	ALG6-congenital disorder of glycosylation 1C [RCV003461571]	likely pathogenic	1	63411309	63411309	Human	1	name , trait
402476168	CV2862234	single nucleotide variant	NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)	ALG6-congenital disorder of glycosylation 1C [RCV003505759]	uncertain significance	1	63396537	63396537	Human	1	name , trait
402474229	CV2864218	single nucleotide variant	NM_013339.4(ALG6):c.1134A>C (p.Leu378=)	ALG6-congenital disorder of glycosylation 1C [RCV003505397]	likely benign	1	63428934	63428934	Human	1	name , trait
402477118	CV2867664	single nucleotide variant	NM_013339.4(ALG6):c.1506T>C (p.Asn502=)	ALG6-congenital disorder of glycosylation 1C [RCV003505938]	likely benign	1	63437002	63437002	Human	1	name , trait
402477288	CV2868005	single nucleotide variant	NM_013339.4(ALG6):c.1524G>A (p.Ter508=)	ALG6-congenital disorder of glycosylation 1C [RCV003505973]	likely benign	1	63437020	63437020	Human	1	name , trait
402480662	CV2889962	single nucleotide variant	NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003506408]	pathogenic	1	63402254	63402254	Human	1	name , trait
402481613	CV2905046	deletion	NM_013339.4(ALG6):c.642del (p.Leu214fs)	ALG6-congenital disorder of glycosylation 1C [RCV003506557]	pathogenic	1	63411293	63411293	Human	1	name , trait
402481623	CV2905059	single nucleotide variant	NM_013339.4(ALG6):c.1000C>T (p.Leu334=)	ALG6-congenital disorder of glycosylation 1C [RCV003506558]	likely benign	1	63419382	63419382	Human	1	name , trait
402471916	CV2913235	single nucleotide variant	NM_013339.4(ALG6):c.1161A>G (p.Leu387=)	ALG6-congenital disorder of glycosylation 1C [RCV003504784]	likely benign	1	63428961	63428961	Human	1	name , trait
402471831	CV2915714	single nucleotide variant	NM_013339.4(ALG6):c.1456T>C (p.Leu486=)	ALG6-congenital disorder of glycosylation 1C [RCV003504766]	likely benign	1	63436952	63436952	Human	1	name , trait
402475996	CV2924428	deletion	NM_013339.4(ALG6):c.352del (p.Ile118fs)	ALG6-congenital disorder of glycosylation 1C [RCV003505728]	pathogenic	1	63406321	63406321	Human	1	name , trait
402475330	CV2929429	single nucleotide variant	NM_013339.4(ALG6):c.1188A>G (p.Ala396=)	ALG6-congenital disorder of glycosylation 1C [RCV003505606]	likely benign	1	63428988	63428988	Human	1	name , trait
402475541	CV2933063	single nucleotide variant	NM_013339.4(ALG6):c.1144T>C (p.Leu382=)	ALG6-congenital disorder of glycosylation 1C [RCV003505646]	likely benign	1	63428944	63428944	Human	1	name , trait
405104982	CV2937479	single nucleotide variant	NM_013339.4(ALG6):c.1281A>G (p.Lys427=)	ALG6-congenital disorder of glycosylation 1C [RCV003614285]	likely benign	1	63429081	63429081	Human	1	name , trait
405105861	CV2959095	single nucleotide variant	NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003614478]	pathogenic	1	63404476	63404476	Human	1	name , trait
405105661	CV2961371	single nucleotide variant	NM_013339.4(ALG6):c.1449G>C (p.Leu483=)	ALG6-congenital disorder of glycosylation 1C [RCV003614434]	likely benign	1	63436945	63436945	Human	1	name , trait
405089383	CV2965101	single nucleotide variant	NM_013339.4(ALG6):c.1260C>T (p.Ser420=)	ALG6-congenital disorder of glycosylation 1C [RCV003613604]	likely benign	1	63429060	63429060	Human	1	name , trait
405092643	CV2989519	single nucleotide variant	NM_013339.4(ALG6):c.1227A>G (p.Glu409=)	ALG6-congenital disorder of glycosylation 1C [RCV003613857]	likely benign	1	63429027	63429027	Human	1	name , trait
405106319	CV3000652	single nucleotide variant	NM_013339.4(ALG6):c.1467T>C (p.Phe489=)	ALG6-congenital disorder of glycosylation 1C [RCV003614575]	likely benign	1	63436963	63436963	Human	1	name , trait
405106728	CV3008380	single nucleotide variant	NM_013339.4(ALG6):c.1206A>G (p.Val402=)	ALG6-congenital disorder of glycosylation 1C [RCV003614639]	likely benign	1	63429006	63429006	Human	1	name , trait
405106802	CV3014756	single nucleotide variant	NM_013339.4(ALG6):c.1428T>C (p.Phe476=)	ALG6-congenital disorder of glycosylation 1C [RCV003614623]	likely benign	1	63436924	63436924	Human	1	name , trait
405109923	CV3078349	single nucleotide variant	NM_013339.4(ALG6):c.1137T>A (p.Pro379=)	ALG6-congenital disorder of glycosylation 1C [RCV003615381]	likely benign	1	63428937	63428937	Human	1	name , trait
405111675	CV3118487	single nucleotide variant	NM_013339.4(ALG6):c.1048T>C (p.Leu350=)	ALG6-congenital disorder of glycosylation 1C [RCV003813715]	likely benign	1	63419430	63419430	Human	1	name , trait
405172415	CV3122833	duplication	NM_013339.4(ALG6):c.443dup (p.Leu148fs)	ALG6-congenital disorder of glycosylation 1C [RCV003819231]	pathogenic	1	63407073	63407074	Human	1	name , trait
404978243	CV3127361	single nucleotide variant	NM_013339.4(ALG6):c.1041C>G (p.Ser347=)	ALG6-congenital disorder of glycosylation 1C [RCV003825585]	likely benign	1	63419423	63419423	Human	1	name , trait
405194238	CV3128565	deletion	NM_013339.4(ALG6):c.714del (p.Val239fs)	ALG6-congenital disorder of glycosylation 1C [RCV003821302]	pathogenic	1	63411958	63411958	Human	1	name , trait
12846605	CV365333	single nucleotide variant	NM_013339.4(ALG6):c.1443C>T (p.Asn481=)	ALG6-congenital disorder of glycosylation 1C [RCV002060054]\|not specified [RCV000441969]	likely benign	1	63436939	63436939	Human	1	name , trait
12836894	CV365368	single nucleotide variant	NM_013339.4(ALG6):c.1398A>T (p.Leu466=)	ALG6-congenital disorder of glycosylation 1C [RCV000874946]\|not specified [RCV000424214]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	63436894	63436894	Human	1	name , trait
597665709	CV3720794	single nucleotide variant	NM_013339.4(ALG6):c.131G>A (p.Trp44Ter)	ALG6-congenital disorder of glycosylation 1C [RCV005028963]	likely pathogenic	1	63396561	63396561	Human	1	name , trait
597691716	CV3720800	single nucleotide variant	NM_013339.4(ALG6):c.262A>T (p.Lys88Ter)	ALG6-congenital disorder of glycosylation 1C [RCV005032558]	likely pathogenic	1	63404457	63404457	Human	1	name , trait
597665228	CV3720821	deletion	NM_013339.4(ALG6):c.408del (p.Glu137fs)	ALG6-congenital disorder of glycosylation 1C [RCV005028987]	likely pathogenic	1	63406375	63406375	Human	1	name , trait
597691853	CV3720838	duplication	NM_013339.4(ALG6):c.506dup (p.Ser170fs)	ALG6-congenital disorder of glycosylation 1C [RCV005032570]	likely pathogenic	1	63411156	63411157	Human	1	name , trait
597846146	CV3786654	single nucleotide variant	NM_013339.4(ALG6):c.1431A>G (p.Val477=)	ALG6-congenital disorder of glycosylation 1C [RCV005121745]	likely benign	1	63436927	63436927	Human	1	name , trait
597844453	CV3786976	single nucleotide variant	NM_013339.4(ALG6):c.1438T>C (p.Leu480=)	ALG6-congenital disorder of glycosylation 1C [RCV005119796]	likely benign	1	63436934	63436934	Human	1	name , trait
597895285	CV3830788	single nucleotide variant	NM_013339.4(ALG6):c.1077A>G (p.Leu359=)	ALG6-congenital disorder of glycosylation 1C [RCV005170186]	likely benign	1	63428751	63428751	Human	1	name , trait
12895071	CV405222	duplication	NM_013339.4(ALG6):c.634dup (p.Cys212fs)	ALG6-congenital disorder of glycosylation 1C [RCV001834567]\|not provided [RCV000485163]	pathogenic\|likely pathogenic	1	63411278	63411279	Human	1	name , trait
13491481	CV448205	single nucleotide variant	NM_013339.4(ALG6):c.1092T>C (p.Phe364=)	ALG6-congenital disorder of glycosylation 1C [RCV002060341]	likely benign	1	63428766	63428766	Human	1	name , trait
13542033	CV498745	single nucleotide variant	NM_013339.4(ALG6):c.1005A>C (p.Ser335=)	ALG6-congenital disorder of glycosylation 1C [RCV002062957]\|not specified [RCV000616968]	likely benign	1	63419387	63419387	Human	1	name , trait
13526366	CV498772	single nucleotide variant	NM_013339.4(ALG6):c.1452C>T (p.Phe484=)	ALG6-congenital disorder of glycosylation 1C [RCV000864276]\|not specified [RCV000604060]	benign\|likely benign	1	63436948	63436948	Human	1	name , trait
13786749	CV541250	single nucleotide variant	NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	ALG6-congenital disorder of glycosylation 1C [RCV000673084]\|not provided [RCV002462010]	pathogenic\|likely pathogenic	1	63402257	63402257	Human	1	name , trait
13786048	CV541255	single nucleotide variant	NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	ALG6-congenital disorder of glycosylation 1C [RCV000672513]	pathogenic\|likely pathogenic	1	63402336	63402336	Human	1	name , trait
14725133	CV628207	duplication	NM_013339.4(ALG6):c.999dup (p.Leu334fs)	ALG6-congenital disorder of glycosylation 1C [RCV000798686]	pathogenic	1	63419380	63419381	Human		name , trait
15122346	CV690655	single nucleotide variant	NM_013339.4(ALG6):c.1308C>T (p.Ser436=)	ALG6-congenital disorder of glycosylation 1C [RCV000874397]	likely benign	1	63429108	63429108	Human	1	name , trait
15151531	CV696831	single nucleotide variant	NM_013339.4(ALG6):c.1341C>T (p.Val447=)	ALG6-congenital disorder of glycosylation 1C [RCV000945705]\|ALG6-related disorder [RCV003933236]\|not provided [RCV003411907]\|not specified [RCV001818927]	benign\|likely benign	1	63436837	63436837	Human	1	name , trait , alternate_id
15141930	CV707493	single nucleotide variant	NM_013339.4(ALG6):c.1056A>G (p.Ser352=)	ALG6-congenital disorder of glycosylation 1C [RCV000966391]	likely benign	1	63419438	63419438	Human	1	name , trait
15163941	CV719047	single nucleotide variant	NM_013339.4(ALG6):c.1365G>A (p.Leu455=)	ALG6-congenital disorder of glycosylation 1C [RCV001835996]	likely benign	1	63436861	63436861	Human	1	name , trait
15193095	CV732551	single nucleotide variant	NM_013339.4(ALG6):c.1401G>A (p.Pro467=)	ALG6-congenital disorder of glycosylation 1C [RCV000910741]	likely benign	1	63436897	63436897	Human	1	name , trait
15127699	CV762049	single nucleotide variant	NM_013339.4(ALG6):c.1002A>G (p.Leu334=)	ALG6-congenital disorder of glycosylation 1C [RCV000941586]	likely benign	1	63419384	63419384	Human	1	name , trait
26912105	CV824349	duplication	NM_013339.4(ALG6):c.492dup (p.Gln165fs)	ALG6-congenital disorder of glycosylation 1C [RCV001053208]	pathogenic\|likely pathogenic	1	63407120	63407121	Human	1	name , trait
28888581	CV864687	single nucleotide variant	NM_013339.4(ALG6):c.101T>C (p.Met34Thr)	ALG6-congenital disorder of glycosylation 1C [RCV001099145]	uncertain significance	1	63396531	63396531	Human	1	name , trait
28888586	CV864688	single nucleotide variant	NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001099146]	uncertain significance	1	63396585	63396585	Human	1	name , trait
38488672	CV930640	deletion	NM_013339.4(ALG6):c.849del (p.Asn283fs)	ALG6-congenital disorder of glycosylation 1C [RCV001209864]	pathogenic	1	63414093	63414093	Human	1	name , trait
38478945	CV942081	deletion	NM_013339.4(ALG6):c.452del (p.Leu151fs)	ALG6-congenital disorder of glycosylation 1C [RCV001234107]	pathogenic	1	63407083	63407083	Human	1	name , trait
40905019	CV977555	single nucleotide variant	NM_013339.4(ALG6):c.1032T>C (p.His344=)	ALG6-congenital disorder of glycosylation 1C [RCV001278130]	likely benign	1	63419414	63419414	Human	1	name , trait
126764998	CV1002972	single nucleotide variant	NM_013339.4(ALG6):c.881G>A (p.Arg294His)	ALG6-congenital disorder of glycosylation 1C [RCV001319876]	uncertain significance	1	63414125	63414125	Human	1	name , trait
8642446	CV101429	single nucleotide variant	NM_013339.4(ALG6):c.820A>G (p.Lys274Glu)	not provided [RCV000081559]	uncertain significance	1	63414064	63414064	Human		name
8642447	CV101430	single nucleotide variant	NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)	ALG6-congenital disorder of glycosylation 1C [RCV000323730]\|not provided [RCV004710491]\|not specified [RCV000081560]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	63415881	63415881	Human	1	name , trait
126748990	CV1023461	single nucleotide variant	NM_013339.4(ALG6):c.574G>A (p.Ala192Thr)	ALG6-congenital disorder of glycosylation 1C [RCV001351969]	uncertain significance	1	63411225	63411225	Human	1	name , trait
126736610	CV1023462	single nucleotide variant	NM_013339.4(ALG6):c.634T>G (p.Cys212Gly)	ALG6-congenital disorder of glycosylation 1C [RCV001350246]\|Inborn genetic diseases [RCV002548470]	uncertain significance	1	63411285	63411285	Human	2	name , trait
126910973	CV1037047	single nucleotide variant	NM_013339.4(ALG6):c.591A>G (p.Ile197Met)	ALG6-congenital disorder of glycosylation 1C [RCV002493815]\|Inborn genetic diseases [RCV004036722]\|not provided [RCV001354863]	uncertain significance	1	63411242	63411242	Human	2	name , trait
127243271	CV1054869	single nucleotide variant	NM_013339.4(ALG6):c.337C>T (p.Arg113Cys)	ALG6-congenital disorder of glycosylation 1C [RCV001377076]\|not specified [RCV004587147]	likely pathogenic\|uncertain significance	1	63404532	63404532	Human	1	name , trait
127270298	CV1058803	single nucleotide variant	NM_013339.4(ALG6):c.409G>T (p.Glu137Ter)	ALG6-congenital disorder of glycosylation 1C [RCV001389795]	pathogenic	1	63406379	63406379	Human	1	name , trait
127266891	CV1058804	deletion	NM_013339.4(ALG6):c.1194del (p.Phe398fs)	ALG6-congenital disorder of glycosylation 1C [RCV001388832]	pathogenic	1	63428989	63428989	Human		name , trait
151354095	CV1327647	single nucleotide variant	NM_013339.4(ALG6):c.390G>T (p.Leu130Phe)	ALG6-congenital disorder of glycosylation 1C [RCV001869675]\|not specified [RCV001817591]	uncertain significance	1	63406360	63406360	Human	1	name , trait
8658944	CV133803	single nucleotide variant	NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)	ALG6-congenital disorder of glycosylation 1C [RCV001079900]\|not provided [RCV000224221]\|not specified [RCV000116318]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	63411996	63411996	Human	1	name , trait
151873780	CV1356409	single nucleotide variant	NM_013339.4(ALG6):c.942A>G (p.Ile314Met)	ALG6-congenital disorder of glycosylation 1C [RCV001925553]\|not provided [RCV004691466]	uncertain significance	1	63415912	63415912	Human	1	name , trait
151865650	CV1357824	single nucleotide variant	NM_013339.4(ALG6):c.532G>A (p.Val178Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001905848]	uncertain significance	1	63411183	63411183	Human	1	name , trait
151739010	CV1358822	single nucleotide variant	NM_013339.4(ALG6):c.322C>G (p.His108Asp)	ALG6-congenital disorder of glycosylation 1C [RCV001967955]	uncertain significance	1	63404517	63404517	Human	1	name , trait
151813120	CV1366157	single nucleotide variant	NM_013339.4(ALG6):c.428A>C (p.Lys143Thr)	ALG6-congenital disorder of glycosylation 1C [RCV001933403]	uncertain significance	1	63406398	63406398	Human	1	name , trait
151806107	CV1372075	single nucleotide variant	NM_013339.4(ALG6):c.914C>T (p.Thr305Met)	ALG6-congenital disorder of glycosylation 1C [RCV001953375]	uncertain significance	1	63415884	63415884	Human	1	name , trait
151789553	CV1394254	single nucleotide variant	NM_013339.4(ALG6):c.727G>A (p.Val243Ile)	ALG6-congenital disorder of glycosylation 1C [RCV002046969]	uncertain significance	1	63411972	63411972	Human	1	name , trait
151828185	CV1400654	single nucleotide variant	NM_013339.4(ALG6):c.446G>C (p.Cys149Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001976383]	uncertain significance	1	63407078	63407078	Human	1	name , trait
151800361	CV1403983	single nucleotide variant	NM_013339.4(ALG6):c.425A>T (p.Lys142Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001973851]	uncertain significance	1	63406395	63406395	Human	1	name , trait
151800464	CV1403999	single nucleotide variant	NM_013339.4(ALG6):c.619G>T (p.Ala207Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001973860]	uncertain significance	1	63411270	63411270	Human	1	name , trait
151764097	CV1418523	deletion	NM_013339.4(ALG6):c.1249del (p.Gln417fs)	ALG6-congenital disorder of glycosylation 1C [RCV001928860]	pathogenic\|likely pathogenic	1	63429049	63429049	Human	1	name , trait
151731157	CV1419194	single nucleotide variant	NM_013339.4(ALG6):c.476T>C (p.Ile159Thr)	ALG6-congenital disorder of glycosylation 1C [RCV001946059]	uncertain significance	1	63407108	63407108	Human	1	name , trait
151819010	CV1420964	single nucleotide variant	NM_013339.4(ALG6):c.529G>A (p.Gly177Ser)	ALG6-congenital disorder of glycosylation 1C [RCV002049602]\|Inborn genetic diseases [RCV003289120]	uncertain significance	1	63411180	63411180	Human	2	name , trait
151835414	CV1436219	single nucleotide variant	NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002014732]	pathogenic\|likely pathogenic	1	63415890	63415890	Human	1	name , trait
151848816	CV1441922	single nucleotide variant	NM_013339.4(ALG6):c.563T>A (p.Leu188Gln)	ALG6-congenital disorder of glycosylation 1C [RCV001995691]	uncertain significance	1	63411214	63411214	Human	1	name , trait
151838255	CV1445351	single nucleotide variant	NM_013339.4(ALG6):c.604A>T (p.Met202Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001994426]	uncertain significance	1	63411255	63411255	Human	1	name , trait
151852175	CV1458944	single nucleotide variant	NM_013339.4(ALG6):c.325A>G (p.Lys109Glu)	ALG6-congenital disorder of glycosylation 1C [RCV002016737]	uncertain significance	1	63404520	63404520	Human	1	name , trait
151798042	CV1470734	single nucleotide variant	NM_013339.4(ALG6):c.916T>G (p.Phe306Val)	ALG6-congenital disorder of glycosylation 1C [RCV001898798]	uncertain significance	1	63415886	63415886	Human	1	name , trait
151753178	CV1471011	single nucleotide variant	NM_013339.4(ALG6):c.470T>G (p.Ile157Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001948356]	uncertain significance	1	63407102	63407102	Human	1	name , trait
151792244	CV1471105	single nucleotide variant	NM_013339.4(ALG6):c.997G>C (p.Ala333Pro)	ALG6-congenital disorder of glycosylation 1C [RCV001931530]	uncertain significance	1	63419379	63419379	Human	1	name , trait
151744416	CV1473174	single nucleotide variant	NM_013339.4(ALG6):c.602A>G (p.Gln201Arg)	ALG6-congenital disorder of glycosylation 1C [RCV001912253]	uncertain significance	1	63411253	63411253	Human	1	name , trait
151878410	CV1506024	single nucleotide variant	NM_013339.4(ALG6):c.886A>G (p.Ile296Val)	ALG6-congenital disorder of glycosylation 1C [RCV001886144]	uncertain significance	1	63414130	63414130	Human	1	name , trait
151750411	CV1512129	single nucleotide variant	NM_013339.4(ALG6):c.475A>G (p.Ile159Val)	ALG6-congenital disorder of glycosylation 1C [RCV001986226]\|Inborn genetic diseases [RCV004045336]	uncertain significance	1	63407107	63407107	Human	2	name , trait
153305656	CV1688711	single nucleotide variant	NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV003096036]\|not specified [RCV002266450]	uncertain significance	1	63414083	63414083	Human	1	name , trait
155690480	CV1777929	single nucleotide variant	NM_013339.4(ALG6):c.731T>A (p.Leu244His)	ALG6-congenital disorder of glycosylation 1C [RCV002299258]	uncertain significance	1	63411976	63411976	Human	1	name , trait
155695969	CV1778550	single nucleotide variant	NM_013339.4(ALG6):c.326A>T (p.Lys109Met)	ALG6-congenital disorder of glycosylation 1C [RCV002299625]	uncertain significance	1	63404521	63404521	Human	1	name , trait
155722376	CV1781432	single nucleotide variant	NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002306460]	likely pathogenic	1	63411305	63411305	Human	1	name , trait
155736166	CV1781949	single nucleotide variant	NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002309690]	likely pathogenic	1	63415917	63415917	Human	1	name , trait
155728199	CV1782323	single nucleotide variant	NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002307855]	likely pathogenic	1	63411321	63411321	Human	1	name , trait
155725397	CV1783563	single nucleotide variant	NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002307007]	likely pathogenic	1	63414137	63414137	Human	1	name , trait
155726765	CV1783886	single nucleotide variant	NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002307330]	likely pathogenic	1	63406320	63406320	Human	1	name , trait
155737168	CV1784299	single nucleotide variant	NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002310456]	likely pathogenic	1	63414064	63414064	Human	1	name , trait
156218100	CV1869493	single nucleotide variant	NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)	ALG6-congenital disorder of glycosylation 1C [RCV003058812]	uncertain significance	1	63414101	63414101	Human	1	name , trait
156351004	CV1870025	single nucleotide variant	NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)	ALG6-congenital disorder of glycosylation 1C [RCV003064845]	uncertain significance	1	63411937	63411937	Human	1	name , trait
156381080	CV1873624	single nucleotide variant	NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003067174]	uncertain significance	1	63411971	63411971	Human	1	name , trait
156372396	CV1878446	single nucleotide variant	NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003066406]	uncertain significance	1	63412039	63412039	Human	1	name , trait
156377376	CV1878825	single nucleotide variant	NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)	ALG6-congenital disorder of glycosylation 1C [RCV003066854]	uncertain significance	1	63404496	63404496	Human	1	name , trait
156322151	CV1885762	single nucleotide variant	NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)	ALG6-congenital disorder of glycosylation 1C [RCV003089236]	uncertain significance	1	63411276	63411276	Human	1	name , trait
156385753	CV1893849	single nucleotide variant	NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)	ALG6-congenital disorder of glycosylation 1C [RCV003093667]	uncertain significance	1	63411307	63411307	Human	1	name , trait
156406046	CV1894682	single nucleotide variant	NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV003070215]	uncertain significance	1	63411952	63411952	Human	1	name , trait
156416886	CV1898352	single nucleotide variant	NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)	ALG6-congenital disorder of glycosylation 1C [RCV002610410]	uncertain significance	1	63407063	63407063	Human	1	name , trait
156211186	CV1902423	single nucleotide variant	NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003084602]	uncertain significance	1	63404533	63404533	Human	1	name , trait
156378899	CV1903187	single nucleotide variant	NM_013339.4(ALG6):c.712G>A (p.Val238Ile)	ALG6-congenital disorder of glycosylation 1C [RCV003093109]	uncertain significance	1	63411957	63411957	Human	1	name , trait
156005795	CV1906493	single nucleotide variant	NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003099022]	pathogenic	1	63414133	63414133	Human	1	name , trait
156158403	CV1906713	single nucleotide variant	NM_013339.4(ALG6):c.778C>G (p.Leu260Val)	ALG6-congenital disorder of glycosylation 1C [RCV003082795]	uncertain significance	1	63412023	63412023	Human	1	name , trait
155933553	CV1916044	single nucleotide variant	NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)	ALG6-congenital disorder of glycosylation 1C [RCV002615143]	uncertain significance	1	63406389	63406389	Human	1	name , trait
156418859	CV1918863	single nucleotide variant	NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002612069]	pathogenic	1	63406369	63406369	Human	1	name , trait
156371559	CV1920334	single nucleotide variant	NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)	ALG6-congenital disorder of glycosylation 1C [RCV002603218]	uncertain significance	1	63411204	63411204	Human	1	name , trait
156309419	CV1928235	single nucleotide variant	NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)	ALG6-congenital disorder of glycosylation 1C [RCV002648068]	uncertain significance	1	63411270	63411270	Human	1	name , trait
156146783	CV1932200	single nucleotide variant	NM_013339.4(ALG6):c.604A>G (p.Met202Val)	ALG6-congenital disorder of glycosylation 1C [RCV002623862]	uncertain significance	1	63411255	63411255	Human	1	name , trait
156413453	CV1969082	single nucleotide variant	NM_013339.4(ALG6):c.940A>G (p.Ile314Val)	ALG6-congenital disorder of glycosylation 1C [RCV002608842]	uncertain significance	1	63415910	63415910	Human	1	name , trait
155921468	CV1991317	single nucleotide variant	NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV002614579]	uncertain significance	1	63411199	63411199	Human	1	name , trait
156205403	CV2000568	single nucleotide variant	NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)	ALG6-congenital disorder of glycosylation 1C [RCV002666647]	uncertain significance	1	63414074	63414074	Human	1	name , trait
156210838	CV2042575	single nucleotide variant	NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)	ALG6-congenital disorder of glycosylation 1C [RCV002766590]	uncertain significance	1	63407066	63407066	Human	1	name , trait
156284550	CV2043050	single nucleotide variant	NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)	ALG6-congenital disorder of glycosylation 1C [RCV002770509]	uncertain significance	1	63414070	63414070	Human	1	name , trait
8558736	CV20536	single nucleotide variant	NM_013339.4(ALG6):c.998C>T (p.Ala333Val)	ALG6-congenital disorder of glycosylation 1C [RCV000005832]\|ALG6-related disorder [RCV003407284]\|not provided [RCV001547693]	pathogenic	1	63419380	63419380	Human	1	name , trait , alternate_id
155987916	CV2056329	single nucleotide variant	NM_013339.4(ALG6):c.410A>T (p.Glu137Val)	ALG6-congenital disorder of glycosylation 1C [RCV002819066]	uncertain significance	1	63406380	63406380	Human	1	name , trait
155947751	CV2062361	single nucleotide variant	NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002816088]	pathogenic	1	63407125	63407125	Human	1	name , trait
10406620	CV206833	single nucleotide variant	NM_013339.4(ALG6):c.536T>G (p.Leu179Arg)	not specified [RCV000193416]	uncertain significance	1	63411187	63411187	Human		name
10404342	CV206834	single nucleotide variant	NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)	ALG6-congenital disorder of glycosylation 1C [RCV001101246]\|Inborn genetic diseases [RCV002517040]\|not specified [RCV000194844]	likely benign\|uncertain significance	1	63415920	63415920	Human	2	name , trait
155956245	CV2078285	duplication	NM_013339.4(ALG6):c.1029dup (p.His344fs)	ALG6-congenital disorder of glycosylation 1C [RCV002880781]	pathogenic	1	63419410	63419411	Human	1	name , trait
156286665	CV2114916	single nucleotide variant	NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)	ALG6-congenital disorder of glycosylation 1C [RCV002921977]	uncertain significance	1	63414124	63414124	Human	1	name , trait
155990251	CV2133675	single nucleotide variant	NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)	ALG6-congenital disorder of glycosylation 1C [RCV002996533]	uncertain significance	1	63406385	63406385	Human	1	name , trait
155967777	CV2142660	single nucleotide variant	NM_013339.4(ALG6):c.677A>T (p.Lys226Met)	ALG6-congenital disorder of glycosylation 1C [RCV002995475]	uncertain significance	1	63411328	63411328	Human	1	name , trait
156204083	CV2150338	single nucleotide variant	NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003006429]	uncertain significance	1	63411927	63411927	Human	1	name , trait
156003219	CV2170341	single nucleotide variant	NM_013339.4(ALG6):c.823G>A (p.Val275Ile)	ALG6-congenital disorder of glycosylation 1C [RCV003017373]	uncertain significance	1	63414067	63414067	Human	1	name , trait
156149532	CV2175254	single nucleotide variant	NM_013339.4(ALG6):c.628T>G (p.Phe210Val)	ALG6-congenital disorder of glycosylation 1C [RCV003040324]	uncertain significance	1	63411279	63411279	Human	1	name , trait
156014009	CV2177287	single nucleotide variant	NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)	ALG6-congenital disorder of glycosylation 1C [RCV003035391]	uncertain significance	1	63411987	63411987	Human	1	name , trait
156051386	CV2191614	single nucleotide variant	NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003036921]	uncertain significance	1	63414090	63414090	Human	1	name , trait
156126399	CV2223680	single nucleotide variant	NM_013339.4(ALG6):c.712G>T (p.Val238Phe)	Inborn genetic diseases [RCV002708177]	uncertain significance	1	63411957	63411957	Human	1	name
156245608	CV2267515	single nucleotide variant	NM_013339.4(ALG6):c.496T>C (p.Tyr166His)	Inborn genetic diseases [RCV002830797]	uncertain significance	1	63411147	63411147	Human	1	name
156197651	CV2293589	single nucleotide variant	NM_013339.4(ALG6):c.916T>A (p.Phe306Ile)	Inborn genetic diseases [RCV002874623]	uncertain significance	1	63415886	63415886	Human	1	name
11580310	CV280992	single nucleotide variant	NM_013339.4(ALG6):c.328C>G (p.Leu110Val)	ALG6-congenital disorder of glycosylation 1C [RCV000329708]	uncertain significance	1	63404523	63404523	Human	1	name , trait
11578794	CV281605	single nucleotide variant	NM_013339.4(ALG6):c.862A>G (p.Ile288Val)	ALG6-congenital disorder of glycosylation 1C [RCV000289477]	uncertain significance	1	63414106	63414106	Human	1	name , trait
11661960	CV282785	single nucleotide variant	NM_013339.4(ALG6):c.728T>C (p.Val243Ala)	ALG6-congenital disorder of glycosylation 1C [RCV000381769]	uncertain significance	1	63411973	63411973	Human	1	name , trait
401941168	CV2835677	single nucleotide variant	NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003461484]	likely pathogenic	1	63412017	63412017	Human	1	name , trait
401942502	CV2835710	deletion	NM_013339.4(ALG6):c.1113del (p.Val372fs)	ALG6-congenital disorder of glycosylation 1C [RCV003468162]	likely pathogenic	1	63428786	63428786	Human	1	name , trait
401942595	CV2835792	single nucleotide variant	NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003468187]	likely pathogenic	1	63411983	63411983	Human	1	name , trait
401950006	CV2835847	single nucleotide variant	NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003476409]	pathogenic\|likely pathogenic	1	63411309	63411309	Human	1	name , trait
402481414	CV2898236	single nucleotide variant	NM_013339.4(ALG6):c.924C>A (p.Ser308Arg)	ALG6-congenital disorder of glycosylation 1C [RCV003506531]	likely pathogenic	1	63415894	63415894	Human	1	name , trait
402471508	CV2904459	single nucleotide variant	NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003504688]	pathogenic	1	63411178	63411178	Human	1	name , trait
402472297	CV2909829	single nucleotide variant	NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003504865]	pathogenic	1	63411982	63411982	Human	1	name , trait
402472788	CV2918149	deletion	NM_013339.4(ALG6):c.1308del (p.Arg437fs)	ALG6-congenital disorder of glycosylation 1C [RCV003504982]	pathogenic	1	63429107	63429107	Human	1	name , trait
405106011	CV2963115	single nucleotide variant	NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003614509]	pathogenic	1	63411149	63411149	Human	1	name , trait
405106456	CV3011391	single nucleotide variant	NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)	ALG6-congenital disorder of glycosylation 1C [RCV003614606]	uncertain significance	1	63415934	63415934	Human	1	name , trait
405873987	CV3400402	deletion	NM_013339.4(ALG6):c.1013del (p.Leu338fs)	ALG6-congenital disorder of glycosylation 1C [RCV004576405]	likely pathogenic	1	63419391	63419391	Human	1	name , trait
407428187	CV3410117	single nucleotide variant	NM_013339.4(ALG6):c.998C>G (p.Ala333Gly)	not specified [RCV004587725]	uncertain significance	1	63419380	63419380	Human		name
408390028	CV3524885	single nucleotide variant	NM_013339.4(ALG6):c.497A>G (p.Tyr166Cys)	not provided [RCV004769780]	uncertain significance	1	63411148	63411148	Human		name
12741732	CV361159	single nucleotide variant	NM_013339.4(ALG6):c.988G>T (p.Val330Phe)	ALG6-congenital disorder of glycosylation 1C [RCV000415014]	uncertain significance	1	63419370	63419370	Human	1	name , trait
12836575	CV365430	single nucleotide variant	NM_013339.4(ALG6):c.678G>T (p.Lys226Asn)	ALG6-congenital disorder of glycosylation 1C [RCV000871937]\|not provided [RCV004713946]\|not specified [RCV000423643]	benign	1	63411329	63411329	Human	1	name , trait
12850160	CV365439	single nucleotide variant	NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)	ALG6-congenital disorder of glycosylation 1C [RCV000664900]\|not provided [RCV000442361]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	63411331	63411331	Human	1	name , trait
597680593	CV3678369	single nucleotide variant	NM_013339.4(ALG6):c.848A>G (p.Asn283Ser)	Inborn genetic diseases [RCV004982686]	likely benign	1	63414092	63414092	Human	1	name
597680599	CV3678379	single nucleotide variant	NM_013339.4(ALG6):c.827C>G (p.Ala276Gly)	Inborn genetic diseases [RCV004982687]	uncertain significance	1	63414071	63414071	Human	1	name
597887548	CV3814445	single nucleotide variant	NM_013339.4(ALG6):c.743C>T (p.Pro248Leu)	ALG6-congenital disorder of glycosylation 1C [RCV005162776]	uncertain significance	1	63411988	63411988	Human	1	name , trait
598125787	CV3883271	duplication	NM_013339.4(ALG6):c.864dup (p.Lys289Ter)	ALG6-congenital disorder of glycosylation 1C [RCV005233146]	likely pathogenic	1	63414106	63414107	Human	1	name , trait
598122431	CV3889861	single nucleotide variant	NM_013339.4(ALG6):c.581G>A (p.Cys194Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV005247965]	uncertain significance	1	63411232	63411232	Human	1	name , trait
8568339	CV39379	single nucleotide variant	NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	ALG6-congenital disorder of glycosylation 1C [RCV000023375]\|ALG6-related disorder [RCV004755748]\|not provided [RCV004710443]\|not specified [RCV000081558]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	63406361	63406361	Human	1	name , trait , alternate_id
598158698	CV3977253	single nucleotide variant	NM_013339.4(ALG6):c.439G>A (p.Ala147Thr)	Inborn genetic diseases [RCV005328106]	uncertain significance	1	63407071	63407071	Human	1	name
598244263	CV3977264	single nucleotide variant	NM_013339.4(ALG6):c.674G>A (p.Gly225Glu)	Inborn genetic diseases [RCV005344838]	uncertain significance	1	63411325	63411325	Human	1	name
617149846	CV4017312	single nucleotide variant	NM_013339.4(ALG6):c.509G>T (p.Ser170Ile)	not provided [RCV005416969]	uncertain significance	1	63411160	63411160	Human		name
13215066	CV427856	single nucleotide variant	NM_013339.4(ALG6):c.802C>T (p.Arg268Cys)	not specified [RCV000502050]	uncertain significance	1	63412047	63412047	Human		name
13791335	CV541230	deletion	NM_013339.4(ALG6):c.1167del (p.Ser390fs)	ALG6-congenital disorder of glycosylation 1C [RCV000667344]	pathogenic\|likely pathogenic	1	63428965	63428965	Human	1	name , trait
13791044	CV541258	single nucleotide variant	NM_013339.4(ALG6):c.338G>A (p.Arg113His)	ALG6-congenital disorder of glycosylation 1C [RCV000667012]\|not specified [RCV002298726]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	63404533	63404533	Human	1	name , trait
13789536	CV541335	duplication	NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	ALG6-congenital disorder of glycosylation 1C [RCV000666040]	pathogenic\|likely pathogenic	1	63428988	63428989	Human	1	name , trait
13784935	CV541345	deletion	NM_013339.4(ALG6):c.1136del (p.Pro379fs)	ALG6-congenital disorder of glycosylation 1C [RCV000671421]	pathogenic\|likely pathogenic	1	63428935	63428935	Human	1	name , trait
14688188	CV620010	single nucleotide variant	NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)	ALG6-congenital disorder of glycosylation 1C [RCV000778991]\|not provided [RCV004691295]\|not specified [RCV005407954]	uncertain significance	1	63407114	63407114	Human	1	name , trait
14710492	CV628206	single nucleotide variant	NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)	ALG6-congenital disorder of glycosylation 1C [RCV000793136]	uncertain significance	1	63411322	63411322	Human	1	name , trait
15150954	CV719046	single nucleotide variant	NM_013339.4(ALG6):c.448A>G (p.Ile150Val)	ALG6-congenital disorder of glycosylation 1C [RCV000879491]\|Renal cyst [RCV005359635]	likely benign\|uncertain significance	1	63407080	63407080	Human	3	name , trait
15158514	CV732549	single nucleotide variant	NM_013339.4(ALG6):c.527G>T (p.Trp176Leu)	ALG6-congenital disorder of glycosylation 1C [RCV000902747]	likely benign	1	63411178	63411178	Human	1	name , trait
15106392	CV746612	single nucleotide variant	NM_013339.4(ALG6):c.665G>A (p.Gly222Asp)	ALG6-congenital disorder of glycosylation 1C [RCV000915743]\|ALG6-related disorder [RCV003950820]	likely benign	1	63411316	63411316	Human	1	name , trait , alternate_id
26922198	CV824348	single nucleotide variant	NM_013339.4(ALG6):c.316C>T (p.Gln106Ter)	ALG6-congenital disorder of glycosylation 1C [RCV001061700]	pathogenic	1	63404511	63404511	Human	1	name , trait
26915770	CV824350	duplication	NM_013339.4(ALG6):c.1338dup (p.Val447fs)	ALG6-congenital disorder of glycosylation 1C [RCV001055934]	pathogenic	1	63436833	63436834	Human	1	name , trait
28888591	CV864689	single nucleotide variant	NM_013339.4(ALG6):c.302G>A (p.Arg101His)	ALG6-congenital disorder of glycosylation 1C [RCV001099147]	uncertain significance	1	63404497	63404497	Human	1	name , trait
28888909	CV864690	single nucleotide variant	NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp)	ALG6-congenital disorder of glycosylation 1C [RCV001099243]	uncertain significance	1	63406340	63406340	Human	1	name , trait
38492166	CV952498	deletion	NM_013339.4(ALG6):c.1018del (p.Ser340fs)	ALG6-congenital disorder of glycosylation 1C [RCV001239941]	pathogenic\|likely pathogenic	1	63419397	63419397	Human	1	name , trait
126911231	CV1040297	single nucleotide variant	NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001369121]	uncertain significance	1	63436842	63436842	Human	1	name , trait
151776944	CV1336922	single nucleotide variant	NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile)	ALG6-congenital disorder of glycosylation 1C [RCV002025896]	uncertain significance	1	63429103	63429103	Human	1	name , trait
8658940	CV133799	single nucleotide variant	NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)	ALG6-congenital disorder of glycosylation 1C [RCV000667313]\|not provided [RCV000116314]	uncertain significance	1	63428935	63428935	Human	1	name , trait
8658941	CV133800	single nucleotide variant	NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001854565]\|not provided [RCV000116315]	uncertain significance	1	63436938	63436938	Human	1	name , trait
8658942	CV133801	single nucleotide variant	NM_013339.4(ALG6):c.1465T>G (p.Phe489Val)	ALG6-congenital disorder of glycosylation 1C [RCV001854566]\|not provided [RCV000116316]	uncertain significance	1	63436961	63436961	Human	1	name , trait
151869833	CV1339456	single nucleotide variant	NM_013339.4(ALG6):c.1075T>G (p.Leu359Val)	ALG6-congenital disorder of glycosylation 1C [RCV001998186]	uncertain significance	1	63428749	63428749	Human	1	name , trait
151761978	CV1346641	single nucleotide variant	NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001970298]	uncertain significance	1	63428938	63428938	Human	1	name , trait
151780726	CV1358338	single nucleotide variant	NM_013339.4(ALG6):c.1366A>G (p.Met456Val)	ALG6-congenital disorder of glycosylation 1C [RCV001930416]	uncertain significance	1	63436862	63436862	Human	1	name , trait
151717269	CV1368313	single nucleotide variant	NM_013339.4(ALG6):c.1204G>A (p.Val402Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001965411]\|Inborn genetic diseases [RCV004043081]	uncertain significance	1	63429004	63429004	Human	2	name , trait
151719450	CV1373749	single nucleotide variant	NM_013339.4(ALG6):c.1456T>G (p.Leu486Val)	ALG6-congenital disorder of glycosylation 1C [RCV001890858]	uncertain significance	1	63436952	63436952	Human	1	name , trait
151887246	CV1386162	single nucleotide variant	NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001942347]	uncertain significance	1	63429100	63429100	Human	1	name , trait
151875481	CV1397121	single nucleotide variant	NM_013339.4(ALG6):c.1444T>G (p.Phe482Val)	ALG6-congenital disorder of glycosylation 1C [RCV001940340]	uncertain significance	1	63436940	63436940	Human	1	name , trait
151859342	CV1403693	single nucleotide variant	NM_013339.4(ALG6):c.1429G>C (p.Val477Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001996929]	uncertain significance	1	63436925	63436925	Human	1	name , trait
151884854	CV1425094	single nucleotide variant	NM_013339.4(ALG6):c.1129A>G (p.Met377Val)	ALG6-congenital disorder of glycosylation 1C [RCV001887233]	uncertain significance	1	63428929	63428929	Human	1	name , trait
151723689	CV1436893	single nucleotide variant	NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys)	ALG6-congenital disorder of glycosylation 1C [RCV002004005]	uncertain significance	1	63428978	63428978	Human	1	name , trait
151726790	CV1445753	single nucleotide variant	NM_013339.4(ALG6):c.1315A>G (p.Ile439Val)	ALG6-congenital disorder of glycosylation 1C [RCV002040783]	uncertain significance	1	63429115	63429115	Human	1	name , trait
151884686	CV1452724	single nucleotide variant	NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV002037603]	uncertain significance	1	63436947	63436947	Human	1	name , trait
151876238	CV1458595	single nucleotide variant	NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001998971]	uncertain significance	1	63436895	63436895	Human	1	name , trait
151829261	CV1462397	single nucleotide variant	NM_013339.4(ALG6):c.1414G>A (p.Val472Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001993547]	uncertain significance	1	63436910	63436910	Human	1	name , trait
151874817	CV1475951	single nucleotide variant	NM_013339.4(ALG6):c.1402G>C (p.Asp468His)	ALG6-congenital disorder of glycosylation 1C [RCV002019407]	uncertain significance	1	63436898	63436898	Human	1	name , trait
151724935	CV1496709	single nucleotide variant	NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr)	ALG6-congenital disorder of glycosylation 1C [RCV001910213]	uncertain significance	1	63428761	63428761	Human	1	name , trait
151720430	CV1496766	single nucleotide variant	NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe)	ALG6-congenital disorder of glycosylation 1C [RCV001909639]	uncertain significance	1	63428785	63428785	Human	1	name , trait
151779800	CV1497025	single nucleotide variant	NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser)	ALG6-congenital disorder of glycosylation 1C [RCV001930329]	uncertain significance	1	63429125	63429125	Human	1	name , trait
151884550	CV1497775	single nucleotide variant	NM_013339.4(ALG6):c.1414G>C (p.Val472Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001962358]	uncertain significance	1	63436910	63436910	Human	1	name , trait
151868922	CV1514635	single nucleotide variant	NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile)	ALG6-congenital disorder of glycosylation 1C [RCV001998076]	uncertain significance	1	63429110	63429110	Human	1	name , trait
155686090	CV1771104	single nucleotide variant	NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)	ALG6-congenital disorder of glycosylation 1C [RCV002298978]	uncertain significance	1	63436863	63436863	Human	1	name , trait
155735872	CV1783296	single nucleotide variant	NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002309453]	likely pathogenic	1	63419395	63419395	Human	1	name , trait
155724402	CV1783380	single nucleotide variant	NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)	ALG6-congenital disorder of glycosylation 1C [RCV002306824]	likely pathogenic	1	63428750	63428750	Human	1	name , trait
156002592	CV1869561	single nucleotide variant	NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)	ALG6-congenital disorder of glycosylation 1C [RCV003076665]\|Inborn genetic diseases [RCV003076664]	uncertain significance	1	63429091	63429091	Human	2	name , trait
156268673	CV1899256	single nucleotide variant	NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)	ALG6-congenital disorder of glycosylation 1C [RCV003086701]	uncertain significance	1	63428734	63428734	Human	1	name , trait
156219440	CV1899671	single nucleotide variant	NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)	ALG6-congenital disorder of glycosylation 1C [RCV003084934]\|not provided [RCV004725526]	uncertain significance	1	63419415	63419415	Human	1	name , trait
156291617	CV1907914	single nucleotide variant	NM_013339.4(ALG6):c.1031A>G (p.His344Arg)	ALG6-congenital disorder of glycosylation 1C [RCV002598778]	uncertain significance	1	63419413	63419413	Human	1	name , trait
156297711	CV1932541	single nucleotide variant	NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)	ALG6-congenital disorder of glycosylation 1C [RCV002647485]	uncertain significance	1	63428795	63428795	Human	1	name , trait
156446994	CV1948688	single nucleotide variant	NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV003118518]	uncertain significance	1	63429107	63429107	Human	1	name , trait
156272296	CV1957237	single nucleotide variant	NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)	ALG6-congenital disorder of glycosylation 1C [RCV002577200]	uncertain significance	1	63436932	63436932	Human	1	name , trait
156274662	CV2014865	single nucleotide variant	NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)	ALG6-congenital disorder of glycosylation 1C [RCV002715099]	uncertain significance	1	63437004	63437004	Human	1	name , trait
156308865	CV2021628	single nucleotide variant	NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)	ALG6-congenital disorder of glycosylation 1C [RCV002716415]	uncertain significance	1	63428740	63428740	Human	1	name , trait
155942283	CV2034666	single nucleotide variant	NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)	ALG6-congenital disorder of glycosylation 1C [RCV002775272]	uncertain significance	1	63436986	63436986	Human	1	name , trait
156348104	CV2052044	single nucleotide variant	NM_013339.4(ALG6):c.1051G>A (p.Val351Met)	ALG6-congenital disorder of glycosylation 1C [RCV002811580]	uncertain significance	1	63419433	63419433	Human	1	name , trait
8558737	CV20537	single nucleotide variant	NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)	ALG6-congenital disorder of glycosylation 1C [RCV000005833]	pathogenic\|likely pathogenic	1	63436928	63436928	Human	1	name , trait
155937731	CV2054685	single nucleotide variant	NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)	ALG6-congenital disorder of glycosylation 1C [RCV002815487]	uncertain significance	1	63428799	63428799	Human	1	name , trait
156263026	CV2138771	single nucleotide variant	NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)	ALG6-congenital disorder of glycosylation 1C [RCV002988536]	uncertain significance	1	63436992	63436992	Human	1	name , trait
155973322	CV2148804	single nucleotide variant	NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)	ALG6-congenital disorder of glycosylation 1C [RCV003016039]	uncertain significance	1	63436954	63436954	Human	1	name , trait
155945503	CV2154717	single nucleotide variant	NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003014535]	uncertain significance	1	63428992	63428992	Human	1	name , trait
156040558	CV2187893	single nucleotide variant	NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003036551]	uncertain significance	1	63436838	63436838	Human	1	name , trait
155977940	CV2266465	single nucleotide variant	NM_013339.4(ALG6):c.1322A>G (p.Tyr441Cys)	Inborn genetic diseases [RCV002818307]	uncertain significance	1	63429122	63429122	Human	1	name
11637794	CV265363	single nucleotide variant	NM_013339.4(ALG6):c.1481T>C (p.Met494Thr)	ALG6-congenital disorder of glycosylation 1C [RCV002519081]\|not provided [RCV000292353]	uncertain significance	1	63436977	63436977	Human	1	name , trait
401905322	CV2831431	single nucleotide variant	NM_013339.4(ALG6):c.1051G>T (p.Val351Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003444423]	uncertain significance	1	63419433	63419433	Human	1	name , trait
401942720	CV2835854	single nucleotide variant	NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)	ALG6-congenital disorder of glycosylation 1C [RCV003468218]	likely pathogenic	1	63428735	63428735	Human	1	name , trait
405205018	CV3144125	single nucleotide variant	NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)	ALG6-congenital disorder of glycosylation 1C [RCV003844915]	uncertain significance	1	63428771	63428771	Human	1	name , trait
12834756	CV365165	single nucleotide variant	NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)	ALG6-congenital disorder of glycosylation 1C [RCV000530726]\|not provided [RCV004711048]\|not specified [RCV000420506]	benign\|likely benign	1	63436853	63436853	Human	1	name , trait
597846481	CV3787189	single nucleotide variant	NM_013339.4(ALG6):c.1376C>T (p.Thr459Ile)	ALG6-congenital disorder of glycosylation 1C [RCV005122074]	uncertain significance	1	63436872	63436872	Human	1	name , trait
13216479	CV427857	single nucleotide variant	NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)	ALG6-congenital disorder of glycosylation 1C [RCV001865594]\|Inborn genetic diseases [RCV002524147]\|not provided [RCV005230976]\|not specified [RCV000503712]	uncertain significance	1	63428794	63428794	Human	2	name , trait
13213707	CV427858	single nucleotide variant	NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg)	ALG6-congenital disorder of glycosylation 1C [RCV001857070]\|not specified [RCV000500338]	uncertain significance	1	63429119	63429119	Human	1	name , trait
13484156	CV442872	single nucleotide variant	NM_013339.4(ALG6):c.1520G>A (p.Ser507Asn)	not provided [RCV000522256]	uncertain significance	1	63437016	63437016	Human		name
13784658	CV541248	single nucleotide variant	NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	ALG6-congenital disorder of glycosylation 1C [RCV000671114]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	63436886	63436886	Human	1	name , trait
13838411	CV589714	single nucleotide variant	NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu)	ALG6-congenital disorder of glycosylation 1C [RCV001869003]\|not provided [RCV000735095]	uncertain significance	1	63436896	63436896	Human	1	name , trait
38484649	CV930642	single nucleotide variant	NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro)	ALG6-congenital disorder of glycosylation 1C [RCV001208137]	uncertain significance	1	63428786	63428786	Human	1	name , trait
38497729	CV952499	single nucleotide variant	NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter)	ALG6-congenital disorder of glycosylation 1C [RCV001243353]	pathogenic	1	63429049	63429049	Human	1	name , trait
40905020	CV977556	single nucleotide variant	NM_013339.4(ALG6):c.1361C>T (p.Thr454Met)	ALG6-congenital disorder of glycosylation 1C [RCV001278131]	uncertain significance	1	63436857	63436857	Human	1	name , trait
126762016	CV987728	single nucleotide variant	NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly)	ALG6-congenital disorder of glycosylation 1C [RCV001309768]	uncertain significance	1	63436997	63436997	Human	1	name , trait
151784916	CV1454714	microsatellite	NM_013339.4(ALG6):c.254_255del (p.Tyr85fs)	ALG6-congenital disorder of glycosylation 1C [RCV001972434]	pathogenic	1	63402338	63402339	Human		name , trait
156209681	CV2103234	deletion	NM_013339.4(ALG6):c.100_101del (p.Met34fs)	ALG6-congenital disorder of glycosylation 1C [RCV002918111]	pathogenic\|likely pathogenic	1	63396529	63396530	Human	1	name , trait
126734852	CV1019418	microsatellite	NM_013339.4(ALG6):c.506_507del (p.Val169fs)	ALG6-congenital disorder of glycosylation 1C [RCV001909364]	pathogenic\|likely pathogenic	1	63411155	63411156	Human		name , trait
151828393	CV1489108	microsatellite	NM_013339.4(ALG6):c.789_790del (p.Phe264fs)	ALG6-congenital disorder of glycosylation 1C [RCV001934818]	pathogenic\|likely pathogenic	1	63412032	63412033	Human		name , trait
155729119	CV1782683	deletion	NM_013339.4(ALG6):c.947_950del (p.Leu316fs)	ALG6-congenital disorder of glycosylation 1C [RCV002308215]	likely pathogenic	1	63415914	63415917	Human	1	name , trait
156031413	CV1893665	microsatellite	NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)	ALG6-congenital disorder of glycosylation 1C [RCV003078120]	uncertain significance	1	63411955	63411957	Human		name , trait
401941259	CV2835818	duplication	NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)	ALG6-congenital disorder of glycosylation 1C [RCV003461575]	likely pathogenic	1	63411315	63411316	Human	1	name , trait
402472004	CV2916017	deletion	NM_013339.4(ALG6):c.974_984del (p.Phe325fs)	ALG6-congenital disorder of glycosylation 1C [RCV003504804]	pathogenic	1	63415944	63415954	Human	1	name , trait
405868475	CV3400463	deletion	NM_013339.4(ALG6):c.536_537del (p.Leu179fs)	ALG6-congenital disorder of glycosylation 1C [RCV004576466]	likely pathogenic	1	63411187	63411188	Human	1	name , trait
8568337	CV39377	microsatellite	NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	ALG6-congenital disorder of glycosylation 1C [RCV000023373]\|not provided [RCV001529107]	pathogenic\|likely pathogenic	1	63414137	63414139	Human		name , trait
13792436	CV541221	deletion	NM_013339.4(ALG6):c.189_191del (p.Asn64del)	ALG6-congenital disorder of glycosylation 1C [RCV000668708]	uncertain significance	1	63402273	63402275	Human	1	name , trait
13785410	CV541224	duplication	NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)	ALG6-congenital disorder of glycosylation 1C [RCV000671979]	likely pathogenic	1	63411972	63411973	Human	1	name , trait
13791314	CV541227	microsatellite	NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)	ALG6-congenital disorder of glycosylation 1C [RCV000667319]	uncertain significance	1	63412025	63412027	Human		name , trait
13786516	CV541338	deletion	NM_013339.4(ALG6):c.235_237del (p.His79del)	ALG6-congenital disorder of glycosylation 1C [RCV000672869]	uncertain significance	1	63402319	63402321	Human	1	name , trait
151713528	CV1428819	insertion	NM_013339.4(ALG6):c.484_485insA (p.Gly162fs)	ALG6-congenital disorder of glycosylation 1C [RCV002002461]	pathogenic	1	63407116	63407117	Human	1	name , trait
405090567	CV2976853	duplication	NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)	ALG6-congenital disorder of glycosylation 1C [RCV003613697]	pathogenic	1	63412040	63412041	Human	1	name , trait
12742035	CV359251	deletion	NM_013339.4(ALG6):c.908_910del (p.Cys303del)	not provided [RCV000412711]\|not specified [RCV000504484]	likely pathogenic\|uncertain significance	1	63415876	63415878	Human		name
13784644	CV541275	microsatellite	NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup)	ALG6-congenital disorder of glycosylation 1C [RCV000671095]	uncertain significance	1	63436966	63436967	Human		name , trait
13784405	CV541334	insertion	NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)	ALG6-congenital disorder of glycosylation 1C [RCV000670804]	pathogenic\|likely pathogenic	1	63371042	63371043	Human	1	name , trait
13791119	CV541337	microsatellite	NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del)	ALG6-congenital disorder of glycosylation 1C [RCV000667101]	uncertain significance	1	63436860	63436862	Human		name , trait
13791666	CV541347	microsatellite	NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)	ALG6-congenital disorder of glycosylation 1C [RCV000667743]	uncertain significance	1	63429037	63429039	Human		name , trait
151811817	CV1371466	deletion	NM_013339.4(ALG6):c.1171_1172del (p.Val391fs)	ALG6-congenital disorder of glycosylation 1C [RCV001933279]	pathogenic	1	63428970	63428971	Human	1	name , trait
156375264	CV2024634	deletion	NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)	ALG6-congenital disorder of glycosylation 1C [RCV002721865]	uncertain significance	1	63436867	63436868	Human	1	name , trait
401914281	CV2799238	deletion	NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)	ALG6-congenital disorder of glycosylation 1C [RCV003459858]\|ALG6-related disorder [RCV003400361]	pathogenic\|likely pathogenic	1	63429045	63429049	Human	1	name , trait , alternate_id
405107220	CV3017159	deletion	NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)	ALG6-congenital disorder of glycosylation 1C [RCV003614791]	pathogenic	1	63428746	63428750	Human	1	name , trait
405107625	CV3025562	deletion	NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)	ALG6-congenital disorder of glycosylation 1C [RCV003614866]	pathogenic	1	63429026	63429027	Human	1	name , trait
13784456	CV541243	deletion	NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	ALG6-congenital disorder of glycosylation 1C [RCV000670853]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	63436883	63436884	Human	1	name , trait
13791315	CV541249	duplication	NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)	ALG6-congenital disorder of glycosylation 1C [RCV000667320]	uncertain significance	1	63436888	63436889	Human	1	name , trait
38477283	CV942082	deletion	NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)	ALG6-congenital disorder of glycosylation 1C [RCV001233382]	pathogenic\|likely pathogenic	1	63419388	63419389	Human	1	name , trait
405241378	CV952497	indel	NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)	ALG6-congenital disorder of glycosylation 1C [RCV003867378]	pathogenic	1	63419382	63419382	Human		name , trait
8558739	CV20539	deletion	NM_013339.3(ALG6):c.895_897delATA (p.Ile299del)	Congenital disorder of glycosylation type 1C [RCV000005835]	pathogenic	1	63414139	63414141	Human		name
597665465	CV3720847	indel	NM_013339.4(ALG6):c.737_738delinsC (p.Trp246fs)	ALG6-congenital disorder of glycosylation 1C [RCV005029015]	likely pathogenic	1	63411982	63411983	Human		name , trait
13786441	CV541331	deletion	NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])	ALG6-congenital disorder of glycosylation 1C [RCV000672822]	uncertain significance	1	63407098	63407103	Human	1	name , trait
13789993	CV541277	deletion	NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)	ALG6-congenital disorder of glycosylation 1C [RCV000666285]	uncertain significance	1	63437020	63437020	Human	1	name , trait
13791452	CV541274	indel	NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)	ALG6-congenital disorder of glycosylation 1C [RCV000667476]	likely pathogenic	1	63428994	63428995	Human		name , trait
405090149	CV2976581	microsatellite	NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT	ALG6-congenital disorder of glycosylation 1C [RCV003613663]	likely benign	1	63411915	63411916	Human		name , trait
155723474	CV1781622	insertion	NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)	ALG6-congenital disorder of glycosylation 1C [RCV002306650]	likely pathogenic	1	63404478	63404479	Human	1	name , trait
14701435	CV628205	deletion	NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	ALG6-congenital disorder of glycosylation 1C [RCV000806272]	pathogenic\|likely pathogenic	1	63396574	63396575	Human	1	name , trait
151354335	CV1329468	duplication	NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)	ALG6-congenital disorder of glycosylation 1C [RCV002545184]\|not provided [RCV001817831]	pathogenic\|likely pathogenic	1	63412039	63412040	Human	1	name , trait
401941220	CV2835758	indel	NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)	ALG6-congenital disorder of glycosylation 1C [RCV003461536]	likely pathogenic	1	63402316	63402324	Human		name , trait
13785834	CV541348	deletion	NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)	ALG6-congenital disorder of glycosylation 1C [RCV000672304]	uncertain significance	1	63436962	63436967	Human	1	name , trait
13787351	CV541238	deletion	NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)	ALG6-congenital disorder of glycosylation 1C [RCV000664789]	uncertain significance	1	63428993	63428998	Human	1	name , trait
151837706	CV1392345	duplication	NC_000001.10:g.(?_63836649)_(63902691_?)dup	ALG6-congenital disorder of glycosylation 1C [RCV001902478]	uncertain significance				Human		trait
151892068	CV1399881	deletion	NC_000001.10:g.(?_63867905)_(63902691_?)del	ALG6-congenital disorder of glycosylation 1C [RCV001943722]	pathogenic				Human	1	trait
151781344	CV1458290	deletion	NC_000001.10:g.(?_63836649)_(63836750_?)del	ALG6-congenital disorder of glycosylation 1C [RCV001951105]	pathogenic				Human	1	trait
151839334	CV1491135	deletion	NC_000001.10:g.(?_63885021)_(63885131_?)del	ALG6-congenital disorder of glycosylation 1C [RCV001956553]	pathogenic				Human	1	trait
151735002	CV1508770	deletion	NC_000001.10:g.(?_63867915)_(63868024_?)del	ALG6-congenital disorder of glycosylation 1C [RCV002021702]	likely pathogenic				Human	1	trait
156445690	CV1939854	deletion	NC_000001.10:g.(?_63836639)_(63902701_?)del	ALG6-congenital disorder of glycosylation 1C [RCV003116646]	pathogenic				Human	1	trait
405873859	CV3404300	deletion	NC_000001.10:g.(?_63862164)_(63862288_?)del	ALG6-congenital disorder of glycosylation 1C [RCV004584078]	pathogenic				Human	1	trait
405874049	CV3404301	deletion	NC_000001.10:g.(?_63881524)_(63885131_?)del	ALG6-congenital disorder of glycosylation 1C [RCV004584079]	pathogenic				Human	1	trait
405874051	CV3404302	deletion	NC_000001.10:g.(?_63867905)_(63870232_?)del	ALG6-congenital disorder of glycosylation 1C [RCV004584080]	pathogenic				Human	1	trait
405873872	CV3404303	deletion	NC_000001.10:g.(?_63881705)_(63885042_?)del	ALG6-congenital disorder of glycosylation 1C [RCV004584081]	likely pathogenic				Human	1	trait
14701804	CV650614	deletion	NC_000001.11:g.(?_63396503)_(63396607_?)del	ALG6-congenital disorder of glycosylation 1C [RCV000819230]	pathogenic	1	63396503	63396607	Human		trait
26892482	CV818987	duplication	NC_000001.11:g.(?_63396503)_(63396607_?)dup	ALG6-congenital disorder of glycosylation 1C [RCV001032566]	likely pathogenic				Human	1	trait
26890170	CV818988	deletion	NC_000001.11:g.(?_63428723)_(63429136_?)del	ALG6-congenital disorder of glycosylation 1C [RCV001031553]	pathogenic				Human	1	trait
156437773	CV1939240	duplication	NC_000001.10:g.(?_63090910)_(63902691_?)dup	ALG6-congenital disorder of glycosylation 1C [RCV004579595]\|Developmental and epileptic encephalopathy, 23 [RCV003107315]	uncertain significance				Human	2	trait

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