Plod1 Variant Search Result - Rat Genome Database

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1002 records found for search term Plod1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150488676	CV1208293	single nucleotide variant	NM_000302.4(PLOD1):c.*6C>T	not provided [RCV001592153]	likely benign	1	11974814	11974814	Human		name
13534539	CV509106	single nucleotide variant	NM_000302.4(PLOD1):c.*4G>A	Familial thoracic aortic aneurysm and aortic dissection [RCV002315146]	uncertain significance	1	11974812	11974812	Human	1	name
13529550	CV509107	single nucleotide variant	NM_000302.4(PLOD1):c.*4G>T	Familial thoracic aortic aneurysm and aortic dissection [RCV002315147]	uncertain significance	1	11974812	11974812	Human	1	name
401797342	CV2742163	single nucleotide variant	NM_000302.4(PLOD1):c.-19C>T	not specified [RCV003324341]	uncertain significance	1	11934761	11934761	Human		name
11596865	CV276139	single nucleotide variant	NM_000302.3(PLOD1):c.-77G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000387162]\|not provided [RCV002262927]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11934703	11934703	Human	1	name
11586692	CV276146	single nucleotide variant	NM_000302.4(PLOD1):c.-39G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000289558]	uncertain significance	1	11934741	11934741	Human	1	name
11580459	CV276734	single nucleotide variant	NM_000302.4(PLOD1):c.-61C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000333983]	uncertain significance	1	11934719	11934719	Human	1	name
11596383	CV276736	single nucleotide variant	NM_000302.4(PLOD1):c.-58G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000381557]	uncertain significance	1	11934722	11934722	Human	1	name
11650804	CV276797	single nucleotide variant	NM_000302.3(PLOD1):c.-64C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000295324]	uncertain significance	1	11934716	11934716	Human	1	name
11659824	CV276912	single nucleotide variant	NM_000302.4(PLOD1):c.*61T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000361734]	uncertain significance	1	11974869	11974869	Human	1	name
11583159	CV276913	single nucleotide variant	NM_000302.4(PLOD1):c.*71C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000264842]\|not provided [RCV001642898]	benign\|likely benign	1	11974879	11974879	Human	1	name
13531294	CV497978	deletion	NM_000302.4(PLOD1):c.-28del	not specified [RCV000601000]	likely benign	1	11934752	11934752	Human		name
13538973	CV497981	single nucleotide variant	NM_000302.4(PLOD1):c.-27C>A	not specified [RCV000612631]	likely benign	1	11934753	11934753	Human		name
11646686	CV276195	single nucleotide variant	NM_000302.4(PLOD1):c.*276T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000272355]	uncertain significance	1	11975084	11975084	Human	1	name
11661980	CV276206	single nucleotide variant	NM_000302.4(PLOD1):c.*419C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000381938]	uncertain significance	1	11975227	11975227	Human	1	name
11587382	CV276456	single nucleotide variant	NM_000302.4(PLOD1):c.*440G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000294498]	likely benign	1	11975248	11975248	Human	1	name
11596675	CV276464	single nucleotide variant	NM_000302.4(PLOD1):c.*721T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000385380]	uncertain significance	1	11975529	11975529	Human	1	name
11662130	CV276841	single nucleotide variant	NM_000302.4(PLOD1):c.*148C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000383227]	uncertain significance	1	11974956	11974956	Human	1	name
11654901	CV276924	single nucleotide variant	NM_000302.4(PLOD1):c.*117A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000321660]	uncertain significance	1	11974925	11974925	Human	1	name
11655321	CV276925	single nucleotide variant	NM_000302.4(PLOD1):c.*308C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000325098]	uncertain significance	1	11975116	11975116	Human	1	name
11658769	CV276929	single nucleotide variant	NM_000302.4(PLOD1):c.*528G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000351855]	uncertain significance	1	11975336	11975336	Human	1	name
402511733	CV2944716	single nucleotide variant	NM_000302.4(PLOD1):c.77-6C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629386]	likely benign	1	11947970	11947970	Human	1	name
597675935	CV3708268	single nucleotide variant	NM_000302.4(PLOD1):c.76+1G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005005612]	likely pathogenic	1	11934856	11934856	Human	1	name
597924950	CV3772609	single nucleotide variant	NM_000302.4(PLOD1):c.76+2T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005115759]	likely pathogenic	1	11934857	11934857	Human	1	name
13493634	CV447195	single nucleotide variant	NM_000302.4(PLOD1):c.77-7T>C	Ehlers-Danlos syndrome [RCV002279344]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000558335]\|not provided [RCV001579366]	likely benign\|uncertain significance	1	11947969	11947969	Human	2	name
28884112	CV862117	single nucleotide variant	NM_000302.4(PLOD1):c.*128A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001097703]	uncertain significance	1	11974936	11974936	Human	1	name
28889585	CV862119	single nucleotide variant	NM_000302.4(PLOD1):c.*461G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001099483]	uncertain significance	1	11975269	11975269	Human	1	name
28889587	CV862120	single nucleotide variant	NM_000302.4(PLOD1):c.*614G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001099484]	benign	1	11975422	11975422	Human	1	name
127338039	CV1130287	single nucleotide variant	NM_000302.4(PLOD1):c.742-5G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001493443]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002384815]	likely benign\|uncertain significance	1	11957837	11957837	Human	2	name
150420061	CV1179095	single nucleotide variant	NM_000302.4(PLOD1):c.975+1G>C	not provided [RCV001551360]	likely pathogenic	1	11958648	11958648	Human		name
150462763	CV1206635	single nucleotide variant	NM_000302.4(PLOD1):c.76+93T>C	not provided [RCV001587036]	likely benign	1	11934948	11934948	Human		name
150488528	CV1208269	single nucleotide variant	NM_000302.4(PLOD1):c.466+3G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001882734]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004039516]\|not provided [RCV001592129]\|not specified [RCV005057535]	likely benign\|uncertain significance	1	11950523	11950523	Human	2	name
151733800	CV1409372	single nucleotide variant	NM_000302.4(PLOD1):c.844-3C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001911143]	uncertain significance	1	11958513	11958513	Human	1	name
151836989	CV1469719	deletion	NM_000302.4(PLOD1):c.467-2del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001880899]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004651770]	pathogenic\|likely pathogenic	1	11952621	11952621	Human	2	name
151773162	CV1504769	single nucleotide variant	NM_000302.4(PLOD1):c.976-2A>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002009040]	likely pathogenic	1	11960644	11960644	Human	1	name
151820672	CV1510554	single nucleotide variant	NM_000302.4(PLOD1):c.976-3C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001934113]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002386767]	uncertain significance	1	11960643	11960643	Human	2	name
152037421	CV1524895	single nucleotide variant	NM_000302.4(PLOD1):c.77-17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002165180]	likely benign	1	11947959	11947959	Human	1	name
152035977	CV1553118	single nucleotide variant	NM_000302.4(PLOD1):c.303-6C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002187495]	likely benign	1	11950351	11950351	Human	1	name
152124182	CV1563059	single nucleotide variant	NM_000302.4(PLOD1):c.643+8G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002118227]\|PLOD1-related disorder [RCV003923724]	likely benign	1	11954901	11954901	Human	1	name , alternate_id
152104607	CV1574822	single nucleotide variant	NM_000302.4(PLOD1):c.169-6C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002095985]	likely benign	1	11949767	11949767	Human	1	name
152065492	CV1583445	single nucleotide variant	NM_000302.4(PLOD1):c.303-7G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002110728]	likely benign	1	11950350	11950350	Human	1	name
152066027	CV1620117	single nucleotide variant	NM_000302.4(PLOD1):c.76+10C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002209355]	likely benign	1	11934865	11934865	Human	1	name
153347436	CV1694646	single nucleotide variant	NM_000302.4(PLOD1):c.303-5C>T	Ehlers-Danlos syndrome [RCV002278048]	uncertain significance	1	11950352	11950352	Human	1	name
155712166	CV1807945	single nucleotide variant	NM_000302.4(PLOD1):c.644-3C>T	Familial thoracic aortic aneurysm and aortic dissection [RCV002361805]	uncertain significance	1	11956914	11956914	Human	1	name
156363690	CV1881544	single nucleotide variant	NM_000302.4(PLOD1):c.76+15G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003065805]	likely benign	1	11934870	11934870	Human	1	name
155955664	CV1907201	single nucleotide variant	NM_000302.4(PLOD1):c.77-16C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003095570]	likely benign	1	11947960	11947960	Human	1	name
155928939	CV2095905	single nucleotide variant	NM_000302.4(PLOD1):c.467-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002903718]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004661498]	likely pathogenic	1	11952621	11952621	Human	2	name
11578516	CV276159	single nucleotide variant	NM_000302.4(PLOD1):c.742-6C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000283324]\|not specified [RCV003401280]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11957836	11957836	Human	1	name
11581768	CV276818	single nucleotide variant	NM_000302.4(PLOD1):c.844-6G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000383798]	conflicting interpretations of pathogenicity\|uncertain significance	1	11958510	11958510	Human	1	name
405015682	CV2855596	single nucleotide variant	NM_000302.4(PLOD1):c.76+19G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515379]	likely benign	1	11934874	11934874	Human	1	name
405016068	CV2862768	single nucleotide variant	NM_000302.4(PLOD1):c.742-9C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515443]	likely benign	1	11957833	11957833	Human	1	name
405000672	CV2868812	single nucleotide variant	NM_000302.4(PLOD1):c.76+13A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003513813]	likely benign	1	11934868	11934868	Human	1	name
405018744	CV2875196	single nucleotide variant	NM_000302.4(PLOD1):c.579+8G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515687]	likely benign	1	11952743	11952743	Human	1	name
405005673	CV2888820	single nucleotide variant	NM_000302.4(PLOD1):c.76+11G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514166]	likely benign	1	11934866	11934866	Human	1	name
405020159	CV2931204	deletion	NM_000302.4(PLOD1):c.76+22del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515822]	benign	1	11934873	11934873	Human	1	name
402510109	CV2937017	single nucleotide variant	NM_000302.4(PLOD1):c.169-4C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629329]	likely benign	1	11949769	11949769	Human	1	name
8564217	CV29410	single nucleotide variant	NM_000302.4(PLOD1):c.579+1G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000015448]	pathogenic	1	11952736	11952736	Human	1	name
402511743	CV2944673	single nucleotide variant	NM_000302.4(PLOD1):c.976-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629385]	likely pathogenic	1	11960644	11960644	Human	1	name
402510814	CV2948167	single nucleotide variant	NM_000302.4(PLOD1):c.77-19T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629400]	likely benign	1	11947957	11947957	Human	1	name
402511998	CV2960139	single nucleotide variant	NM_000302.4(PLOD1):c.77-13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629492]	likely benign	1	11947963	11947963	Human	1	name
402521037	CV2963967	single nucleotide variant	NM_000302.4(PLOD1):c.466+7G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630209]	likely benign	1	11950527	11950527	Human	1	name
402520913	CV2974019	single nucleotide variant	NM_000302.4(PLOD1):c.580-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630200]	likely pathogenic	1	11954828	11954828	Human	1	name
405044545	CV3000083	single nucleotide variant	NM_000302.4(PLOD1):c.844-6G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630696]	likely benign	1	11958510	11958510	Human	1	name
405047678	CV3010221	single nucleotide variant	NM_000302.4(PLOD1):c.76+20G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630908]	likely benign	1	11934875	11934875	Human	1	name
405046015	CV3011237	single nucleotide variant	NM_000302.4(PLOD1):c.844-9C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630780]	likely benign	1	11958507	11958507	Human	1	name
405046654	CV3012151	single nucleotide variant	NM_000302.4(PLOD1):c.168+1G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630829]	likely pathogenic	1	11948068	11948068	Human	1	name
405049155	CV3021771	single nucleotide variant	NM_000302.4(PLOD1):c.579+8G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003631018]	likely benign	1	11952743	11952743	Human	1	name
402503866	CV3026437	single nucleotide variant	NM_000302.4(PLOD1):c.644-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628628]	likely pathogenic	1	11956915	11956915	Human	1	name
402504132	CV3026868	single nucleotide variant	NM_000302.4(PLOD1):c.580-7C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628652]	likely benign	1	11954823	11954823	Human	1	name
402504166	CV3026980	single nucleotide variant	NM_000302.4(PLOD1):c.77-18A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628656]	likely benign	1	11947958	11947958	Human	1	name
402504816	CV3027812	single nucleotide variant	NM_000302.4(PLOD1):c.76+14G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628693]	likely benign	1	11934869	11934869	Human	1	name
402505594	CV3041243	single nucleotide variant	NM_000302.4(PLOD1):c.77-17C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628767]	likely benign	1	11947959	11947959	Human	1	name
402507605	CV3044182	single nucleotide variant	NM_000302.4(PLOD1):c.467-8A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628975]	likely benign	1	11952615	11952615	Human	1	name
402515606	CV3063059	single nucleotide variant	NM_000302.4(PLOD1):c.77-13C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629817]	likely benign	1	11947963	11947963	Human	1	name
402515620	CV3069087	single nucleotide variant	NM_000302.4(PLOD1):c.467-6C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629740]	likely benign	1	11952617	11952617	Human	1	name
402519965	CV3071368	single nucleotide variant	NM_000302.4(PLOD1):c.741+8G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629957]	likely benign	1	11957022	11957022	Human	1	name
405111662	CV3118485	single nucleotide variant	NM_000302.4(PLOD1):c.77-20A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003813713]\|not specified [RCV003988152]	likely benign	1	11947956	11947956	Human	1	name
405145676	CV3126461	single nucleotide variant	NM_000302.4(PLOD1):c.580-4G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003817188]	likely benign	1	11954826	11954826	Human	1	name
402477032	CV3173902	single nucleotide variant	NM_000302.4(PLOD1):c.77-20A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003875440]	likely benign	1	11947956	11947956	Human	1	name
404991576	CV3183870	single nucleotide variant	NM_000302.4(PLOD1):c.168+9T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003881643]	likely benign	1	11948076	11948076	Human	1	name
597742070	CV3711976	single nucleotide variant	NM_000302.4(PLOD1):c.302+1G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005013952]	likely pathogenic	1	11949907	11949907	Human	1	name
597742970	CV3712118	deletion	NM_000302.4(PLOD1):c.843+1del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005014107]	likely pathogenic	1	11957941	11957941	Human	1	name
597888683	CV3739292	single nucleotide variant	NM_000302.4(PLOD1):c.844-8T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005070839]	likely benign	1	11958508	11958508	Human	1	name
597920976	CV3765202	single nucleotide variant	NM_000302.4(PLOD1):c.580-7C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005115219]	likely benign	1	11954823	11954823	Human	1	name
597895204	CV3833646	single nucleotide variant	NM_000302.4(PLOD1):c.843+9G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005180338]	likely benign	1	11957952	11957952	Human	1	name
598203151	CV3896411	single nucleotide variant	NM_000302.4(PLOD1):c.742-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005356661]	likely pathogenic	1	11957840	11957840	Human	1	name
13465094	CV447212	single nucleotide variant	NM_000302.4(PLOD1):c.976-6C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000542619]	likely benign\|uncertain significance	1	11960640	11960640	Human	1	name
13537318	CV498020	single nucleotide variant	NM_000302.4(PLOD1):c.76+17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001001505]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004017697]\|not specified [RCV000610246]	benign\|likely benign	1	11934872	11934872	Human	2	name
13539084	CV498022	single nucleotide variant	NM_000302.4(PLOD1):c.741+7G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000902404]\|PLOD1-related disorder [RCV003945499]\|not specified [RCV000612781]	likely benign	1	11957021	11957021	Human	1	name , alternate_id
13536425	CV498031	single nucleotide variant	NM_000302.4(PLOD1):c.741+4G>A	not provided [RCV001697939]	likely benign	1	11957018	11957018	Human		name
13529317	CV509090	single nucleotide variant	NM_000302.4(PLOD1):c.741+4G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001042922]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315167]\|not specified [RCV003330842]	uncertain significance	1	11957018	11957018	Human	2	name
13818428	CV557123	single nucleotide variant	NM_000302.4(PLOD1):c.302+5G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000707699]\|not provided [RCV004691290]	uncertain significance	1	11949911	11949911	Human	1	name
15113404	CV774359	single nucleotide variant	NM_000302.4(PLOD1):c.742-9C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001098985]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11957833	11957833	Human	1	name
26921210	CV850718	single nucleotide variant	NM_000302.4(PLOD1):c.579+3A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001049420]	uncertain significance	1	11952738	11952738	Human	1	name
38477585	CV959520	single nucleotide variant	NM_000302.4(PLOD1):c.302+5G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001233544]	uncertain significance	1	11949911	11949911	Human	1	name
126920659	CV1039399	single nucleotide variant	NM_000302.4(PLOD1):c.1471-9C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001373936]	likely benign\|uncertain significance	1	11965471	11965471	Human	1	name
127240513	CV1066145	single nucleotide variant	NM_000302.4(PLOD1):c.844-10C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001392938]	likely benign	1	11958506	11958506	Human	1	name
127235072	CV1087898	single nucleotide variant	NM_000302.4(PLOD1):c.1202+7C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001422195]\|not provided [RCV004793486]	likely benign\|uncertain significance	1	11963643	11963643	Human	1	name
150423103	CV1182765	single nucleotide variant	NM_000302.4(PLOD1):c.467-35G>C	not provided [RCV001554879]	likely benign	1	11952588	11952588	Human		name
150414681	CV1189465	single nucleotide variant	NM_000302.4(PLOD1):c.741+77G>A	not provided [RCV001567648]	likely benign	1	11957091	11957091	Human		name
150419456	CV1192690	single nucleotide variant	NM_000302.4(PLOD1):c.467-35G>A	not provided [RCV001569696]	likely benign	1	11952588	11952588	Human		name
150439956	CV1201624	single nucleotide variant	NM_000302.4(PLOD1):c.1097+4A>G	not provided [RCV001583436]	uncertain significance	1	11960771	11960771	Human		name
150448839	CV1202363	single nucleotide variant	NM_000302.4(PLOD1):c.466+73G>A	not provided [RCV001584960]	likely benign	1	11950593	11950593	Human		name
150461530	CV1206471	single nucleotide variant	NM_000302.4(PLOD1):c.467-36G>A	not provided [RCV001586872]	likely benign	1	11952587	11952587	Human		name
150487610	CV1208131	single nucleotide variant	NM_000302.4(PLOD1):c.77-216C>T	not provided [RCV001591991]	likely benign	1	11947760	11947760	Human		name
151855389	CV1354077	single nucleotide variant	NM_000302.4(PLOD1):c.1584+1G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001979458]	likely pathogenic	1	11965594	11965594	Human	1	name
152094952	CV1533898	single nucleotide variant	NM_000302.4(PLOD1):c.580-10T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002151079]	likely benign	1	11954820	11954820	Human	1	name
152096367	CV1557962	single nucleotide variant	NM_000302.4(PLOD1):c.741+13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002172505]	likely benign	1	11957027	11957027	Human	1	name
152106442	CV1560085	single nucleotide variant	NM_000302.4(PLOD1):c.975+14G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002133912]\|not specified [RCV003323997]	likely benign\|uncertain significance	1	11958661	11958661	Human	1	name
152140015	CV1560262	single nucleotide variant	NM_000302.4(PLOD1):c.844-16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002138053]	likely benign	1	11958500	11958500	Human	1	name
152041604	CV1568442	single nucleotide variant	NM_000302.4(PLOD1):c.579+16C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002107819]	likely benign	1	11952751	11952751	Human	1	name
152107552	CV1579483	single nucleotide variant	NM_000302.4(PLOD1):c.643+13C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002173914]	likely benign	1	11954906	11954906	Human	1	name
152050395	CV1606914	single nucleotide variant	NM_000302.4(PLOD1):c.644-16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002108890]	likely benign	1	11956901	11956901	Human	1	name
152027956	CV1607577	single nucleotide variant	NM_000302.4(PLOD1):c.467-20C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002105070]	likely benign	1	11952603	11952603	Human	1	name
152122696	CV1640984	single nucleotide variant	NM_000302.4(PLOD1):c.303-16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002098378]	likely benign	1	11950341	11950341	Human	1	name
152049541	CV1656237	single nucleotide variant	NM_000302.4(PLOD1):c.303-18T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002207343]	likely benign	1	11950339	11950339	Human	1	name
152053195	CV1659284	single nucleotide variant	NM_000302.4(PLOD1):c.466+12G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002189660]	likely benign	1	11950532	11950532	Human	1	name
155669421	CV1846740	single nucleotide variant	NM_000302.4(PLOD1):c.2028+3G>T	Familial thoracic aortic aneurysm and aortic dissection [RCV002419711]	uncertain significance	1	11973000	11973000	Human	1	name
155986661	CV1907814	single nucleotide variant	NM_000302.4(PLOD1):c.742-13G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003097634]	likely benign	1	11957829	11957829	Human	1	name
155941475	CV1910169	single nucleotide variant	NM_000302.4(PLOD1):c.467-12A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002615663]	likely benign	1	11952611	11952611	Human	1	name
156412722	CV1968793	single nucleotide variant	NM_000302.4(PLOD1):c.976-15C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002608622]	likely benign	1	11960631	11960631	Human	1	name
156078968	CV1975650	single nucleotide variant	NM_000302.4(PLOD1):c.303-13G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002621480]	likely benign	1	11950344	11950344	Human	1	name
156353981	CV2011970	single nucleotide variant	NM_000302.4(PLOD1):c.644-19T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002720391]	uncertain significance	1	11956898	11956898	Human	1	name
156128485	CV2012575	single nucleotide variant	NM_000302.4(PLOD1):c.1329-6C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002696311]	likely benign	1	11964638	11964638	Human	1	name
156027662	CV2088501	single nucleotide variant	NM_000302.4(PLOD1):c.1471-8C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002866912]	likely benign	1	11965472	11965472	Human	1	name
156128600	CV2100735	single nucleotide variant	NM_000302.4(PLOD1):c.844-12T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002889853]	likely benign	1	11958504	11958504	Human	1	name
156215227	CV2107016	single nucleotide variant	NM_000302.4(PLOD1):c.844-15C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002918334]	likely benign	1	11958501	11958501	Human	1	name
243055616	CV2413405	single nucleotide variant	NM_000302.4(PLOD1):c.466+65C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003132053]	uncertain significance	1	11950585	11950585	Human	1	name
11559760	CV259623	single nucleotide variant	NM_000302.4(PLOD1):c.1651-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001002397]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002401967]\|not provided [RCV000254922]	pathogenic\|likely pathogenic	1	11966985	11966985	Human	2	name
329955192	CV2671133	single nucleotide variant	NM_000302.4(PLOD1):c.1585-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003236406]	likely pathogenic	1	11966249	11966249	Human	1	name
11633570	CV272765	single nucleotide variant	NM_000302.4(PLOD1):c.1470+2T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001038850]\|not provided [RCV000348218]	pathogenic\|likely pathogenic	1	11964787	11964787	Human	1	name
11582314	CV276155	single nucleotide variant	NM_000302.4(PLOD1):c.169-11T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000407334]	conflicting interpretations of pathogenicity\|uncertain significance	1	11949762	11949762	Human	1	name
11578796	CV276160	single nucleotide variant	NM_000302.4(PLOD1):c.975+13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000289343]\|not specified [RCV000436823]	benign\|likely benign\|uncertain significance	1	11958660	11958660	Human	1	name
11579780	CV276815	single nucleotide variant	NM_000302.4(PLOD1):c.302+15G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000312615]\|not specified [RCV000426146]	benign\|likely benign	1	11949921	11949921	Human	1	name
11578878	CV276820	single nucleotide variant	NM_000302.4(PLOD1):c.1902+9G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000290846]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11970825	11970825	Human	1	name
11580113	CV276831	single nucleotide variant	NM_000302.4(PLOD1):c.579+10A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000323261]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11952745	11952745	Human	1	name
401922946	CV2796579	single nucleotide variant	NM_000302.4(PLOD1):c.1202+2T>A	PLOD1-related disorder [RCV003404199]	likely pathogenic	1	11963638	11963638	Human		name , trait , alternate_id
405015258	CV2855233	single nucleotide variant	NM_000302.4(PLOD1):c.741+12C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515334]	likely benign	1	11957026	11957026	Human	1	name
405017070	CV2859471	single nucleotide variant	NM_000302.4(PLOD1):c.741+11C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515412]	likely benign	1	11957025	11957025	Human	1	name
405008869	CV2861130	single nucleotide variant	NM_000302.4(PLOD1):c.1202+1G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514763]	likely pathogenic	1	11963637	11963637	Human	1	name
405008717	CV2864545	single nucleotide variant	NM_000302.4(PLOD1):c.580-20T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514750]	likely benign	1	11954810	11954810	Human	1	name
405014519	CV2864855	single nucleotide variant	NM_000302.4(PLOD1):c.741+19C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515284]	likely benign	1	11957033	11957033	Human	1	name
405018364	CV2867722	single nucleotide variant	NM_000302.4(PLOD1):c.1202+2T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515652]	likely pathogenic	1	11963638	11963638	Human	1	name
405001294	CV2879894	single nucleotide variant	NM_000302.4(PLOD1):c.643+20A>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003513881]	likely benign	1	11954913	11954913	Human	1	name
405003774	CV2882238	single nucleotide variant	NM_000302.4(PLOD1):c.643+19G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514142]	likely benign	1	11954912	11954912	Human	1	name
405023282	CV2893273	single nucleotide variant	NM_000302.4(PLOD1):c.1097+1G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516132]	likely pathogenic	1	11960768	11960768	Human	1	name
405023382	CV2893493	single nucleotide variant	NM_000302.4(PLOD1):c.580-19G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516141]	likely benign	1	11954811	11954811	Human	1	name
405024608	CV2894293	single nucleotide variant	NM_000302.4(PLOD1):c.844-17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516252]	likely benign	1	11958499	11958499	Human	1	name
405009720	CV2897337	single nucleotide variant	NM_000302.4(PLOD1):c.1756-7C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514815]	likely benign	1	11970663	11970663	Human	1	name
405024933	CV2898028	single nucleotide variant	NM_000302.4(PLOD1):c.1756-6C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516281]	likely benign	1	11970664	11970664	Human	1	name
405026629	CV2902141	single nucleotide variant	NM_000302.4(PLOD1):c.466+10C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516447]	likely benign	1	11950530	11950530	Human	1	name
405026181	CV2905498	single nucleotide variant	NM_000302.4(PLOD1):c.467-19C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516387]	likely benign	1	11952604	11952604	Human	1	name
405011732	CV2908928	single nucleotide variant	NM_000302.4(PLOD1):c.643+16G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515003]	likely benign	1	11954909	11954909	Human	1	name
405013488	CV2910492	single nucleotide variant	NM_000302.4(PLOD1):c.1585-7C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515189]	likely benign	1	11966244	11966244	Human	1	name
405011501	CV2913040	single nucleotide variant	NM_000302.4(PLOD1):c.843+14C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514981]	likely benign	1	11957957	11957957	Human	1	name
405014181	CV2921607	single nucleotide variant	NM_000302.4(PLOD1):c.643+13C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515253]	likely benign	1	11954906	11954906	Human	1	name
8564215	CV29407	deletion	NM_000302.4(PLOD1):c.1651-2del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000015444]	pathogenic	1	11966985	11966985	Human	1	name
402510191	CV2943836	single nucleotide variant	NM_000302.4(PLOD1):c.1098-8C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629337]	likely benign	1	11963524	11963524	Human	1	name
402510492	CV2944326	single nucleotide variant	NM_000302.4(PLOD1):c.644-18G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629365]	likely benign	1	11956899	11956899	Human	1	name
402512138	CV2957317	single nucleotide variant	NM_000302.4(PLOD1):c.169-17G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629503]	likely benign	1	11949756	11949756	Human	1	name
402519414	CV2958985	single nucleotide variant	NM_000302.4(PLOD1):c.844-14C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630106]	likely benign	1	11958502	11958502	Human	1	name
402520686	CV2966809	single nucleotide variant	NM_000302.4(PLOD1):c.169-16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630182]	likely benign	1	11949757	11949757	Human	1	name
402524719	CV2979230	single nucleotide variant	NM_000302.4(PLOD1):c.2028+7A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630489]	likely benign	1	11973004	11973004	Human	1	name
402524858	CV2986611	single nucleotide variant	NM_000302.4(PLOD1):c.303-20T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630500]	likely benign	1	11950337	11950337	Human	1	name
402524157	CV2988628	single nucleotide variant	NM_000302.4(PLOD1):c.1903-2A>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630447]	likely pathogenic	1	11972870	11972870	Human	1	name
405044798	CV2996231	single nucleotide variant	NM_000302.4(PLOD1):c.1755+9C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630674]	likely benign	1	11967100	11967100	Human	1	name
405045218	CV3003676	single nucleotide variant	NM_000302.4(PLOD1):c.303-14T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630746]	likely benign	1	11950343	11950343	Human	1	name
405047542	CV3006475	single nucleotide variant	NM_000302.4(PLOD1):c.844-16G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630898]	likely benign	1	11958500	11958500	Human	1	name
405047395	CV3009591	single nucleotide variant	NM_000302.4(PLOD1):c.169-12G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630886]	likely benign	1	11949761	11949761	Human	1	name
405047013	CV3012884	single nucleotide variant	NM_000302.4(PLOD1):c.742-14C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630857]	likely benign	1	11957828	11957828	Human	1	name
405046224	CV3014549	single nucleotide variant	NM_000302.4(PLOD1):c.1328+1G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630796]	likely pathogenic	1	11964301	11964301	Human	1	name
405048314	CV3017147	single nucleotide variant	NM_000302.4(PLOD1):c.1756-9C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630956]	likely benign	1	11970661	11970661	Human	1	name
405048598	CV3017814	single nucleotide variant	NM_000302.4(PLOD1):c.742-14C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630978]	likely benign	1	11957828	11957828	Human	1	name
405049395	CV3018692	single nucleotide variant	NM_000302.4(PLOD1):c.580-11C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003631036]	likely benign	1	11954819	11954819	Human	1	name
405049755	CV3018955	single nucleotide variant	NM_000302.4(PLOD1):c.1650+8C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003631062]	likely benign	1	11966324	11966324	Human	1	name
405049168	CV3021774	single nucleotide variant	NM_000302.4(PLOD1):c.1755+9C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003631019]	likely benign	1	11967100	11967100	Human	1	name
402504211	CV3023618	single nucleotide variant	NM_000302.4(PLOD1):c.1585-5C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628660]	likely benign	1	11966246	11966246	Human	1	name
402504383	CV3027140	single nucleotide variant	NM_000302.4(PLOD1):c.466+13G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628675]	likely benign	1	11950533	11950533	Human	1	name
405049407	CV3028645	single nucleotide variant	NM_000302.4(PLOD1):c.1471-4C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003631037]	likely benign	1	11965476	11965476	Human	1	name
405049812	CV3029026	single nucleotide variant	NM_000302.4(PLOD1):c.168+16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003631066]	likely benign	1	11948083	11948083	Human	1	name
402506419	CV3034250	single nucleotide variant	NM_000302.4(PLOD1):c.580-16A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628853]	likely benign	1	11954814	11954814	Human	1	name
402505150	CV3040131	single nucleotide variant	NM_000302.4(PLOD1):c.843+15A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628724]	likely benign	1	11957958	11957958	Human	1	name
402507968	CV3048285	single nucleotide variant	NM_000302.4(PLOD1):c.843+11G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629035]	likely benign	1	11957954	11957954	Human	1	name
402506754	CV3049748	single nucleotide variant	NM_000302.4(PLOD1):c.844-13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628885]	likely benign	1	11958503	11958503	Human	1	name
402507143	CV3050490	single nucleotide variant	NM_000302.4(PLOD1):c.1098-5T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628927]	likely benign	1	11963527	11963527	Human	1	name
402513252	CV3052722	single nucleotide variant	NM_000302.4(PLOD1):c.466+20G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629618]	likely benign	1	11950540	11950540	Human	1	name
402514957	CV3059171	single nucleotide variant	NM_000302.4(PLOD1):c.1202+9G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629766]	likely benign	1	11963645	11963645	Human	1	name
402514835	CV3062349	single nucleotide variant	NM_000302.4(PLOD1):c.644-15C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629755]	likely benign	1	11956902	11956902	Human	1	name
402513158	CV3066816	single nucleotide variant	NM_000302.4(PLOD1):c.976-14A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629610]	likely benign	1	11960632	11960632	Human	1	name
402517424	CV3071369	single nucleotide variant	NM_000302.4(PLOD1):c.741+13C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629958]	likely benign	1	11957027	11957027	Human	1	name
402518373	CV3071979	single nucleotide variant	NM_000302.4(PLOD1):c.976-17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630030]	likely benign	1	11960629	11960629	Human	1	name
404978434	CV3127410	single nucleotide variant	NM_000302.4(PLOD1):c.976-18C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003825634]	likely benign	1	11960628	11960628	Human	1	name
405199812	CV3128858	single nucleotide variant	NM_000302.4(PLOD1):c.1585-9T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003821901]	likely benign	1	11966242	11966242	Human	1	name
405026420	CV3129687	single nucleotide variant	NM_000302.4(PLOD1):c.579+12T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003830285]	likely benign	1	11952747	11952747	Human	1	name
405109059	CV3136771	single nucleotide variant	NM_000302.4(PLOD1):c.643+10C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003835925]	likely benign	1	11954903	11954903	Human	1	name
405150299	CV3142091	single nucleotide variant	NM_000302.4(PLOD1):c.1584+1G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003840013]	likely pathogenic	1	11965594	11965594	Human	1	name
405215488	CV3143187	single nucleotide variant	NM_000302.4(PLOD1):c.580-12T>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003846350]	likely benign	1	11954818	11954818	Human	1	name
405233695	CV3145014	single nucleotide variant	NM_000302.4(PLOD1):c.1097+7T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003853271]	likely benign	1	11960774	11960774	Human	1	name
405182072	CV3159584	single nucleotide variant	NM_000302.4(PLOD1):c.303-17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003858835]	likely benign	1	11950340	11950340	Human	1	name
405246413	CV3162187	single nucleotide variant	NM_000302.4(PLOD1):c.741+16C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003868706]	likely benign	1	11957030	11957030	Human	1	name
402482137	CV3170872	single nucleotide variant	NM_000302.4(PLOD1):c.580-13T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003876075]	likely benign	1	11954817	11954817	Human	1	name
402476886	CV3173879	single nucleotide variant	NM_000302.4(PLOD1):c.643+12C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003875417]	likely benign	1	11954905	11954905	Human	1	name
402514666	CV3178827	single nucleotide variant	NM_000302.4(PLOD1):c.467-14C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003879260]	likely benign	1	11952609	11952609	Human	1	name
407573237	CV3499015	single nucleotide variant	NM_000302.4(PLOD1):c.844-11C>T	not specified [RCV004699985]	likely benign	1	11958505	11958505	Human		name
12834668	CV364316	single nucleotide variant	NM_000302.4(PLOD1):c.643+15C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002522591]\|not provided [RCV001698349]	likely benign	1	11954908	11954908	Human	1	name
12842883	CV364398	single nucleotide variant	NM_000302.4(PLOD1):c.644-17T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001000225]\|not provided [RCV004715168]\|not specified [RCV000435211]	benign	1	11956900	11956900	Human	1	name
12832882	CV364409	single nucleotide variant	NM_000302.4(PLOD1):c.843+17G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002063591]\|not specified [RCV000417444]	likely benign	1	11957960	11957960	Human	1	name
12847741	CV364410	single nucleotide variant	NM_000302.4(PLOD1):c.976-16C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001000363]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004017617]\|not provided [RCV001704394]\|not specified [RCV003323536]	benign\|likely benign	1	11960630	11960630	Human	2	name
12848429	CV364414	single nucleotide variant	NM_000302.4(PLOD1):c.1098-3C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001054205]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313065]\|not provided [RCV001720120]	likely benign\|uncertain significance	1	11963529	11963529	Human	2	name
597944146	CV3776514	single nucleotide variant	NM_000302.4(PLOD1):c.1097+7T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005119369]	likely benign	1	11960774	11960774	Human	1	name
597951780	CV3798418	single nucleotide variant	NM_000302.4(PLOD1):c.1585-8T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005136199]	likely benign	1	11966243	11966243	Human	1	name
597899094	CV3799778	single nucleotide variant	NM_000302.4(PLOD1):c.643+16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005152429]	likely benign	1	11954909	11954909	Human	1	name
597970902	CV3802328	single nucleotide variant	NM_000302.4(PLOD1):c.1329-5C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005141925]	likely benign	1	11964639	11964639	Human	1	name
597898103	CV3854515	single nucleotide variant	NM_000302.4(PLOD1):c.742-19C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005201622]	likely benign	1	11957823	11957823	Human	1	name
597930118	CV3862303	single nucleotide variant	NM_000302.4(PLOD1):c.168+13C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005206545]	likely benign	1	11948080	11948080	Human	1	name
598124657	CV3885315	single nucleotide variant	NM_000302.4(PLOD1):c.169-15G>A	not specified [RCV005239892]	likely benign	1	11949758	11949758	Human		name
598125807	CV3885677	single nucleotide variant	NM_000302.4(PLOD1):c.1756-6C>T	not specified [RCV005241190]	uncertain significance	1	11970664	11970664	Human		name
616934380	CV4012379	single nucleotide variant	NM_000302.4(PLOD1):c.1328+7A>C	not specified [RCV005409415]	uncertain significance	1	11964307	11964307	Human		name
13436121	CV433836	single nucleotide variant	NM_000302.4(PLOD1):c.168+79C>T	not provided [RCV001541274]\|not specified [RCV000506605]	benign	1	11948146	11948146	Human		name
13445878	CV437796	single nucleotide variant	NM_000302.4(PLOD1):c.1903-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001865680]\|not provided [RCV000512973]	likely pathogenic	1	11972870	11972870	Human	1	name
13472636	CV442594	single nucleotide variant	NM_000302.4(PLOD1):c.1097+1G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001853637]\|not provided [RCV000519176]	pathogenic\|likely pathogenic	1	11960768	11960768	Human	1	name
13477966	CV442595	single nucleotide variant	NM_000302.4(PLOD1):c.1097+3G>C	not provided [RCV000520538]	uncertain significance	1	11960770	11960770	Human		name
13482545	CV447157	single nucleotide variant	NM_000302.4(PLOD1):c.1203-3C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000529461]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314962]\|PLOD1-related disorder [RCV004745450]\|not provided [RCV000585087]\|not specified [RCV004701615]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11964172	11964172	Human	2	name , alternate_id
13525020	CV497984	single nucleotide variant	NM_000302.4(PLOD1):c.1202+3G>A	Ehlers-Danlos syndrome [RCV002279399]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634745]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002350460]\|not provided [RCV001722639]	likely benign\|uncertain significance	1	11963639	11963639	Human	3	name
13525764	CV498026	single nucleotide variant	NM_000302.4(PLOD1):c.579+17G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002063051]\|not specified [RCV000603425]	likely benign	1	11952752	11952752	Human	1	name
13527057	CV498028	single nucleotide variant	NM_000302.4(PLOD1):c.1098-4G>A	not specified [RCV000604952]	likely benign	1	11963528	11963528	Human		name
13535081	CV509099	single nucleotide variant	NM_000302.4(PLOD1):c.1471-2A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001855284]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315161]	likely pathogenic	1	11965478	11965478	Human	2	name
13618099	CV514996	single nucleotide variant	NM_000302.4(PLOD1):c.303-10C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634759]\|PLOD1-related disorder [RCV003905704]\|not specified [RCV004702220]	likely benign\|conflicting interpretations of pathogenicity	1	11950347	11950347	Human	1	name , alternate_id
13618077	CV515009	single nucleotide variant	NM_000302.4(PLOD1):c.1470+5G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634744]	uncertain significance	1	11964790	11964790	Human	1	name
13704873	CV538941	single nucleotide variant	NM_000302.4(PLOD1):c.1651-2A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000662173]	pathogenic\|conflicting interpretations of pathogenicity	1	11966985	11966985	Human	1	name
14705446	CV650612	single nucleotide variant	NM_000302.4(PLOD1):c.1329-1G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000800852]	likely pathogenic	1	11964643	11964643	Human	1	name
14735805	CV656966	single nucleotide variant	NM_000302.4(PLOD1):c.169-96C>T	not provided [RCV000838185]	benign	1	11949677	11949677	Human		name
14736118	CV657009	single nucleotide variant	NM_000302.4(PLOD1):c.169-53C>G	not provided [RCV000838331]	benign	1	11949720	11949720	Human		name
14745910	CV657026	single nucleotide variant	NM_000302.4(PLOD1):c.76+264A>G	not provided [RCV000843879]	benign	1	11935119	11935119	Human		name
14735807	CV657027	single nucleotide variant	NM_000302.4(PLOD1):c.302+83G>A	not provided [RCV000838186]	benign	1	11949989	11949989	Human		name
14742445	CV657031	single nucleotide variant	NM_000302.4(PLOD1):c.644-11C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002068586]\|not provided [RCV000841394]	likely benign	1	11956906	11956906	Human	1	name
15123463	CV695000	single nucleotide variant	NM_000302.4(PLOD1):c.1903-5T>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000874597]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002409104]	likely benign\|uncertain significance	1	11972867	11972867	Human	2	name
15101870	CV729911	single nucleotide variant	NM_000302.4(PLOD1):c.843+10C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002065583]	likely benign	1	11957953	11957953	Human	1	name
15153118	CV729912	single nucleotide variant	NM_000302.4(PLOD1):c.1651-8C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001443971]	likely benign	1	11966979	11966979	Human	1	name
15200964	CV776986	single nucleotide variant	NM_000302.4(PLOD1):c.1471-8C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000957484]\|not provided [RCV001726387]	likely benign\|uncertain significance	1	11965472	11965472	Human	1	name
15154525	CV776992	single nucleotide variant	NM_000302.4(PLOD1):c.1471-6C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001467972]	likely benign	1	11965474	11965474	Human	1	name
15200959	CV777009	single nucleotide variant	NM_000302.4(PLOD1):c.1471-9C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000957483]	likely benign	1	11965471	11965471	Human	1	name
15175162	CV777018	single nucleotide variant	NM_000302.4(PLOD1):c.2028+8G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001512147]\|PLOD1-related disorder [RCV003903207]\|not provided [RCV004714161]	benign\|likely benign	1	11973005	11973005	Human	1	name , alternate_id
38488658	CV939769	deletion	NM_000302.4(PLOD1):c.2029-3del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001209856]	likely benign\|uncertain significance	1	11974648	11974648	Human	1	name
38477405	CV940598	single nucleotide variant	NM_000302.4(PLOD1):c.1902+3G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001216123]	uncertain significance	1	11970819	11970819	Human	1	name
150333291	CV1170561	single nucleotide variant	NM_000302.4(PLOD1):c.467-245C>T	not provided [RCV001539416]	likely benign	1	11952378	11952378	Human		name
150336824	CV1170562	single nucleotide variant	NM_000302.4(PLOD1):c.1471-80C>G	not provided [RCV001541213]	likely benign	1	11965400	11965400	Human		name
150336802	CV1170564	single nucleotide variant	NM_000302.4(PLOD1):c.1756-75G>A	not provided [RCV001541200]	likely benign	1	11970595	11970595	Human		name
150414282	CV1175735	single nucleotide variant	NM_000302.4(PLOD1):c.976-255C>T	not provided [RCV001548060]	likely benign	1	11960391	11960391	Human		name
150411312	CV1175736	single nucleotide variant	NM_000302.4(PLOD1):c.1650+31C>A	not provided [RCV001547096]	likely benign	1	11966347	11966347	Human		name
150421516	CV1179094	single nucleotide variant	NM_000302.4(PLOD1):c.168+286C>T	not provided [RCV001552050]	likely benign	1	11948353	11948353	Human		name
150422568	CV1179098	single nucleotide variant	NM_000302.4(PLOD1):c.1755+40G>A	not provided [RCV001552819]	likely benign	1	11967131	11967131	Human		name
150424415	CV1182764	single nucleotide variant	NM_000302.4(PLOD1):c.303-115G>A	not provided [RCV001556627]	likely benign	1	11950242	11950242	Human		name
150424410	CV1182766	single nucleotide variant	NM_000302.4(PLOD1):c.741+262A>G	not provided [RCV001556622]	likely benign	1	11957276	11957276	Human		name
150425853	CV1182767	single nucleotide variant	NM_000302.4(PLOD1):c.1650+79G>A	not provided [RCV001558559]	likely benign	1	11966395	11966395	Human		name
150427979	CV1186041	single nucleotide variant	NM_000302.4(PLOD1):c.644-108A>T	not provided [RCV001561649]	likely benign	1	11956809	11956809	Human		name
150419043	CV1192691	single nucleotide variant	NM_000302.4(PLOD1):c.843+220G>A	not provided [RCV001569502]	likely benign	1	11958163	11958163	Human		name
150418819	CV1192693	single nucleotide variant	NM_000302.4(PLOD1):c.1203-32C>T	not provided [RCV001569401]	likely benign	1	11964143	11964143	Human		name
150420125	CV1196453	single nucleotide variant	NM_000302.4(PLOD1):c.644-194A>C	not provided [RCV001577475]	likely benign	1	11956723	11956723	Human		name
150415374	CV1196457	single nucleotide variant	NM_000302.4(PLOD1):c.1755+57G>A	not provided [RCV001575372]	likely benign	1	11967148	11967148	Human		name
150406975	CV1199872	single nucleotide variant	NM_000302.4(PLOD1):c.1202+14G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002573251]\|not provided [RCV001579590]\|not specified [RCV004782768]	likely benign	1	11963650	11963650	Human	1	name
150433875	CV1204207	single nucleotide variant	NM_000302.4(PLOD1):c.1098-52C>A	not provided [RCV001581956]	likely benign	1	11963480	11963480	Human		name
150511627	CV1212794	single nucleotide variant	NM_000302.4(PLOD1):c.579+241C>G	not provided [RCV001598026]	benign	1	11952976	11952976	Human		name
150482262	CV1221024	single nucleotide variant	NM_000302.4(PLOD1):c.844-195C>G	not provided [RCV001617109]	benign	1	11958321	11958321	Human		name
150479117	CV1239330	single nucleotide variant	NM_000302.4(PLOD1):c.643+204G>A	not provided [RCV001652492]	benign	1	11955097	11955097	Human		name
150493211	CV1257508	single nucleotide variant	NM_000302.4(PLOD1):c.466+201A>G	not provided [RCV001675181]	benign	1	11950721	11950721	Human		name
150445597	CV1261225	single nucleotide variant	NM_000302.4(PLOD1):c.1328+23T>G	not provided [RCV001679899]	benign	1	11964323	11964323	Human		name
150440050	CV1265054	single nucleotide variant	NM_000302.4(PLOD1):c.644-202T>C	not provided [RCV001679047]	benign	1	11956715	11956715	Human		name
150493091	CV1267075	single nucleotide variant	NM_000302.4(PLOD1):c.2028+59A>G	not provided [RCV001688102]	benign	1	11973056	11973056	Human		name
150471602	CV1270109	single nucleotide variant	NM_000302.4(PLOD1):c.2028+66G>C	not provided [RCV001695397]	benign	1	11973063	11973063	Human		name
150439080	CV1274905	single nucleotide variant	NM_000302.4(PLOD1):c.1097+10G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629194]\|not provided [RCV001703251]	likely benign	1	11960777	11960777	Human	1	name
150436358	CV1274922	single nucleotide variant	NM_000302.4(PLOD1):c.77-3358C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001732231]\|PLOD1-related disorder [RCV003968491]\|not provided [RCV001702293]\|not specified [RCV005405730]	likely benign\|conflicting interpretations of pathogenicity	1	11944618	11944618	Human	1	name , alternate_id
150490148	CV1279495	single nucleotide variant	NM_000302.4(PLOD1):c.976-142G>T	not provided [RCV001716418]	benign	1	11960504	11960504	Human		name
150483029	CV1280116	single nucleotide variant	NM_000302.4(PLOD1):c.579+188G>A	not provided [RCV001715119]	benign	1	11952923	11952923	Human		name
150439684	CV1287075	single nucleotide variant	NM_000302.4(PLOD1):c.1755+56C>T	not provided [RCV001724990]	benign	1	11967147	11967147	Human		name
150441560	CV1287585	single nucleotide variant	NM_000302.4(PLOD1):c.975+183A>T	not provided [RCV001725305]	benign	1	11958830	11958830	Human		name
151349500	CV1321282	single nucleotide variant	NM_000302.4(PLOD1):c.77-3351T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001802262]	likely benign	1	11944625	11944625	Human	1	name
151349786	CV1321755	single nucleotide variant	NM_000302.4(PLOD1):c.77-3320G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001802739]	likely benign	1	11944656	11944656	Human	1	name
151792568	CV1422939	single nucleotide variant	NM_000302.4(PLOD1):c.1756-20T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001916959]	uncertain significance	1	11970650	11970650	Human	1	name
151710372	CV1502219	single nucleotide variant	NM_000302.4(PLOD1):c.1471-14C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001907872]	likely benign\|uncertain significance	1	11965466	11965466	Human	1	name
151714752	CV1510410	single nucleotide variant	NM_000302.4(PLOD1):c.1471-17G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001965006]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11965463	11965463	Human	1	name
152064746	CV1583239	single nucleotide variant	NM_000302.4(PLOD1):c.1470+11A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002110617]	likely benign	1	11964796	11964796	Human	1	name
152092938	CV1584529	single nucleotide variant	NM_000302.4(PLOD1):c.1903-18C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002114323]	likely benign	1	11972854	11972854	Human	1	name
152164991	CV1595739	single nucleotide variant	NM_000302.4(PLOD1):c.1584+17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002204147]\|not specified [RCV003324004]	likely benign\|uncertain significance	1	11965610	11965610	Human	1	name
152099717	CV1610706	single nucleotide variant	NM_000302.4(PLOD1):c.2028+17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002133113]\|not specified [RCV005406369]	likely benign	1	11973014	11973014	Human	1	name
152160844	CV1619209	single nucleotide variant	NM_000302.4(PLOD1):c.1585-19T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002159610]	likely benign	1	11966232	11966232	Human	1	name
152042920	CV1619728	single nucleotide variant	NM_000302.4(PLOD1):c.1098-13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002188494]	likely benign	1	11963519	11963519	Human	1	name
152978136	CV1671428	single nucleotide variant	NM_000302.4(PLOD1):c.77-3370G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002227387]\|not provided [RCV004711910]	benign\|likely benign	1	11944606	11944606	Human	1	name
156110292	CV1903863	single nucleotide variant	NM_000302.4(PLOD1):c.1470+12G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003080943]	likely benign	1	11964797	11964797	Human	1	name
156405577	CV1913163	single nucleotide variant	NM_000302.4(PLOD1):c.1651-16T>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002606363]	likely benign	1	11966971	11966971	Human	1	name
156373591	CV1921121	deletion	NM_000302.4(PLOD1):c.1903-20del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002603394]	likely benign	1	11972852	11972852	Human	1	name
156409556	CV1922746	single nucleotide variant	NM_000302.4(PLOD1):c.1203-13T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002607592]	likely benign	1	11964162	11964162	Human	1	name
156310417	CV1925113	single nucleotide variant	NM_000302.4(PLOD1):c.2028+17C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002629731]	likely benign	1	11973014	11973014	Human	1	name
156153576	CV1926038	single nucleotide variant	NM_000302.4(PLOD1):c.1202+13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002624094]	likely benign	1	11963649	11963649	Human	1	name
156055362	CV1934094	single nucleotide variant	NM_000302.4(PLOD1):c.1756-15C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002638088]	likely benign\|uncertain significance	1	11970655	11970655	Human	1	name
156222462	CV2005775	single nucleotide variant	NM_000302.4(PLOD1):c.1756-12G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002667278]	likely benign	1	11970658	11970658	Human	1	name
156197380	CV2066660	single nucleotide variant	NM_000302.4(PLOD1):c.2028+12C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002828816]	likely benign	1	11973009	11973009	Human	1	name
156305946	CV2079790	single nucleotide variant	NM_000302.4(PLOD1):c.1585-11A>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002857406]	likely benign	1	11966240	11966240	Human	1	name
155950473	CV2084388	single nucleotide variant	NM_000302.4(PLOD1):c.1756-13C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002880472]	likely benign	1	11970657	11970657	Human	1	name
156327964	CV2094568	single nucleotide variant	NM_000302.4(PLOD1):c.1471-20A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002899747]	likely benign	1	11965460	11965460	Human	1	name
156161621	CV2095253	single nucleotide variant	NM_000302.4(PLOD1):c.1584+20A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002891019]	likely benign	1	11965613	11965613	Human	1	name
156038516	CV2120211	single nucleotide variant	NM_000302.4(PLOD1):c.1097+17A>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002949524]	likely benign	1	11960784	11960784	Human	1	name
156321476	CV2123832	single nucleotide variant	NM_000302.4(PLOD1):c.1098-13C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002963232]	likely benign	1	11963519	11963519	Human	1	name
243051192	CV2415697	single nucleotide variant	NM_000302.4(PLOD1):c.1756-13C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003148304]	uncertain significance	1	11970657	11970657	Human	1	name
11542252	CV249374	single nucleotide variant	NM_000302.4(PLOD1):c.1470+14G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002057338]\|not provided [RCV004710627]\|not specified [RCV000242949]	likely benign	1	11964799	11964799	Human	1	name
329952091	CV2668821	single nucleotide variant	NM_000302.4(PLOD1):c.1328+17T>G	not specified [RCV003230903]	benign	1	11964317	11964317	Human		name
405009129	CV2860794	single nucleotide variant	NM_000302.4(PLOD1):c.2028+12C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514717]	likely benign	1	11973009	11973009	Human	1	name
405014718	CV2861657	single nucleotide variant	NM_000302.4(PLOD1):c.2028+16C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515304]	likely benign	1	11973013	11973013	Human	1	name
405008365	CV2864175	single nucleotide variant	NM_000302.4(PLOD1):c.1650+15C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514698]	likely benign	1	11966331	11966331	Human	1	name
405018475	CV2867991	single nucleotide variant	NM_000302.4(PLOD1):c.1650+20T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515662]	likely benign	1	11966336	11966336	Human	1	name
405002367	CV2870145	single nucleotide variant	NM_000302.4(PLOD1):c.1202+11T>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003513988]	likely benign	1	11963647	11963647	Human	1	name
405018170	CV2874817	single nucleotide variant	NM_000302.4(PLOD1):c.1471-16G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515633]	likely benign	1	11965464	11965464	Human	1	name
405002000	CV2880439	single nucleotide variant	NM_000302.4(PLOD1):c.1584+12G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003513954]	likely benign	1	11965605	11965605	Human	1	name
405002976	CV2885073	single nucleotide variant	NM_000302.4(PLOD1):c.1903-15C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514069]	likely benign	1	11972857	11972857	Human	1	name
405004442	CV2889091	deletion	NM_000302.4(PLOD1):c.1650+13del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514182]	likely benign	1	11966328	11966328	Human	1	name
405004948	CV2892970	single nucleotide variant	NM_000302.4(PLOD1):c.1755+20G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514239]	likely benign	1	11967111	11967111	Human	1	name
405023637	CV2893605	single nucleotide variant	NM_000302.4(PLOD1):c.1650+12G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516188]	likely benign	1	11966328	11966328	Human	1	name
405010596	CV2915332	deletion	NM_000302.4(PLOD1):c.1471-18del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514922]	likely benign	1	11965461	11965461	Human	1	name
405013165	CV2920930	single nucleotide variant	NM_000302.4(PLOD1):c.1097+11G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515160]	likely benign	1	11960778	11960778	Human	1	name
405022226	CV2927120	duplication	NM_000302.4(PLOD1):c.1097+17dup	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516025]	likely benign	1	11960783	11960784	Human	1	name
405022308	CV2927362	single nucleotide variant	NM_000302.4(PLOD1):c.1097+17A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516033]	likely benign	1	11960784	11960784	Human	1	name
405020249	CV2928094	single nucleotide variant	NM_000302.4(PLOD1):c.2029-20T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515831]	likely benign	1	11974633	11974633	Human	1	name
402511385	CV2939548	single nucleotide variant	NM_000302.4(PLOD1):c.1471-17G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629465]	likely benign	1	11965463	11965463	Human	1	name
402509991	CV2939668	single nucleotide variant	NM_000302.4(PLOD1):c.1097+13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629317]	likely benign	1	11960780	11960780	Human	1	name
402509778	CV2943114	single nucleotide variant	NM_000302.4(PLOD1):c.2029-20T>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629311]	likely benign	1	11974633	11974633	Human	1	name
402509758	CV2946486	single nucleotide variant	NM_000302.4(PLOD1):c.2028+18G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629309]	likely benign	1	11973015	11973015	Human	1	name
402519825	CV2952236	single nucleotide variant	NM_000302.4(PLOD1):c.1202+15T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630137]	likely benign	1	11963651	11963651	Human	1	name
402524912	CV2983099	single nucleotide variant	NM_000302.4(PLOD1):c.1098-11C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630504]	likely benign	1	11963521	11963521	Human	1	name
402524145	CV2988616	single nucleotide variant	NM_000302.4(PLOD1):c.1098-19T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630446]	likely benign	1	11963513	11963513	Human	1	name
405045016	CV2996712	single nucleotide variant	NM_000302.4(PLOD1):c.1202+12C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630731]	likely benign	1	11963648	11963648	Human	1	name
405045084	CV2997039	single nucleotide variant	NM_000302.4(PLOD1):c.1097+18G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630736]	likely benign	1	11960785	11960785	Human	1	name
405044451	CV3003065	single nucleotide variant	NM_000302.4(PLOD1):c.1584+16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630690]	likely benign	1	11965609	11965609	Human	1	name
405048439	CV3010853	single nucleotide variant	NM_000302.4(PLOD1):c.1097+14C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630966]	likely benign	1	11960781	11960781	Human	1	name
405048019	CV3013641	single nucleotide variant	NM_000302.4(PLOD1):c.1650+19C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630934]	likely benign	1	11966335	11966335	Human	1	name
402504481	CV3029477	single nucleotide variant	NM_000302.4(PLOD1):c.1471-17G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628610]	likely benign	1	11965463	11965463	Human	1	name
402505547	CV3032763	single nucleotide variant	NM_000302.4(PLOD1):c.1202+19C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628762]	likely benign	1	11963655	11963655	Human	1	name
402509115	CV3047671	deletion	NM_000302.4(PLOD1):c.1203-16del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629001]	likely benign	1	11964159	11964159	Human	1	name
402509154	CV3048170	single nucleotide variant	NM_000302.4(PLOD1):c.1470+13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629030]	likely benign	1	11964798	11964798	Human	1	name
402508152	CV3052026	single nucleotide variant	NM_000302.4(PLOD1):c.1650+11T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629054]	likely benign	1	11966327	11966327	Human	1	name
402506577	CV3052957	single nucleotide variant	NM_000302.4(PLOD1):c.1903-12G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628868]	likely benign	1	11972860	11972860	Human	1	name
402514224	CV3064042	single nucleotide variant	NM_000302.4(PLOD1):c.1584+11G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629680]	likely benign	1	11965604	11965604	Human	1	name
402515448	CV3066292	single nucleotide variant	NM_000302.4(PLOD1):c.1097+17A>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629806]	likely benign	1	11960784	11960784	Human	1	name
402515359	CV3070056	single nucleotide variant	NM_000302.4(PLOD1):c.1650+18C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629798]	likely benign	1	11966334	11966334	Human	1	name
402517033	CV3076326	single nucleotide variant	NM_000302.4(PLOD1):c.1651-19G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629929]	likely benign	1	11966968	11966968	Human	1	name
405043381	CV3081721	single nucleotide variant	NM_000302.4(PLOD1):c.77-3339C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630589]\|not specified [RCV005406056]	benign	1	11944637	11944637	Human	1	name
405010423	CV3128020	single nucleotide variant	NM_000302.4(PLOD1):c.1903-17C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003828900]	likely benign	1	11972855	11972855	Human	1	name
405039031	CV3140956	single nucleotide variant	NM_000302.4(PLOD1):c.1471-13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003831249]\|not specified [RCV004783117]	likely benign	1	11965467	11965467	Human	1	name
405231983	CV3157503	single nucleotide variant	NM_000302.4(PLOD1):c.1098-20C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003865453]	likely benign	1	11963512	11963512	Human	1	name
405210606	CV3162698	single nucleotide variant	NM_000302.4(PLOD1):c.1329-13G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003861997]	likely benign	1	11964631	11964631	Human	1	name
405095005	CV3164274	single nucleotide variant	NM_000302.4(PLOD1):c.1328+16G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003852589]	likely benign	1	11964316	11964316	Human	1	name
405254930	CV3175616	single nucleotide variant	NM_000302.4(PLOD1):c.1470+18A>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003871883]\|not specified [RCV004526284]	likely benign	1	11964803	11964803	Human	1	name
405265082	CV3201439	single nucleotide variant	NM_000302.4(PLOD1):c.77-3395G>T	PLOD1-related disorder [RCV003897197]	likely benign	1	11944581	11944581	Human		name , trait , alternate_id
12842394	CV364389	single nucleotide variant	NM_000302.4(PLOD1):c.1756-13C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001099373]\|not provided [RCV001579887]\|not specified [RCV005418125]	benign\|likely benign	1	11970657	11970657	Human	1	name
12838456	CV364391	single nucleotide variant	NM_000302.4(PLOD1):c.1902+13G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002060085]\|not specified [RCV000427001]	benign\|likely benign	1	11970829	11970829	Human	1	name
12835915	CV364401	single nucleotide variant	NM_000302.4(PLOD1):c.2028+11G>C	not specified [RCV000422514]	likely benign	1	11973008	11973008	Human		name
12836237	CV364417	single nucleotide variant	NM_000302.4(PLOD1):c.1329-20G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001001544]\|not provided [RCV004713970]\|not specified [RCV000423046]	benign	1	11964624	11964624	Human	1	name
597891352	CV3749371	single nucleotide variant	NM_000302.4(PLOD1):c.1471-18C>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005071155]	likely benign	1	11965462	11965462	Human	1	name
597917607	CV3767877	single nucleotide variant	NM_000302.4(PLOD1):c.1903-16C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005114678]	likely benign	1	11972856	11972856	Human	1	name
597911055	CV3778203	single nucleotide variant	NM_000302.4(PLOD1):c.1755+20G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005128742]	likely benign	1	11967111	11967111	Human	1	name
597869379	CV3784078	single nucleotide variant	NM_000302.4(PLOD1):c.1902+16G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005122382]	likely benign	1	11970832	11970832	Human	1	name
597942691	CV3816302	single nucleotide variant	NM_000302.4(PLOD1):c.1098-18G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005159363]	likely benign	1	11963514	11963514	Human	1	name
597974655	CV3831768	single nucleotide variant	NM_000302.4(PLOD1):c.1902+19T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005168707]	likely benign	1	11970835	11970835	Human	1	name
597920888	CV3842813	single nucleotide variant	NM_000302.4(PLOD1):c.1203-18G>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005184298]	likely benign	1	11964157	11964157	Human	1	name
597936827	CV3862581	single nucleotide variant	NM_000302.4(PLOD1):c.1202+14G>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005207853]	likely benign	1	11963650	11963650	Human	1	name
616937135	CV4011302	single nucleotide variant	NM_000302.4(PLOD1):c.741+174G>A	not specified [RCV005405148]	likely benign	1	11957188	11957188	Human		name
617152775	CV4018395	duplication	NM_000302.4(PLOD1):c.1328+16dup	not specified [RCV005418655]	likely benign	1	11964313	11964314	Human		name
13499692	CV447155	single nucleotide variant	NM_000302.4(PLOD1):c.1651-10C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000539975]\|not specified [RCV005418197]	likely benign	1	11966977	11966977	Human	1	name
13533336	CV497987	single nucleotide variant	NM_000302.4(PLOD1):c.1471-18C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002064055]\|not provided [RCV001697979]	likely benign	1	11965462	11965462	Human	1	name
13536677	CV498032	single nucleotide variant	NM_000302.4(PLOD1):c.1903-18C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514387]\|not specified [RCV000609341]	likely benign	1	11972854	11972854	Human	1	name
14712800	CV656969	single nucleotide variant	NM_000302.4(PLOD1):c.467-271A>G	not provided [RCV000828538]	benign	1	11952352	11952352	Human		name
14712806	CV656972	single nucleotide variant	NM_000302.4(PLOD1):c.844-283T>C	not provided [RCV000828540]	benign	1	11958233	11958233	Human		name
14737895	CV656978	single nucleotide variant	NM_000302.4(PLOD1):c.1098-89G>A	not provided [RCV000839130]	likely benign	1	11963443	11963443	Human	5	name
14737895	CV656978	single nucleotide variant	NM_000302.4(PLOD1):c.1098-89G>A	not provided [RCV000839130]	likely benign	1	11963443	11963444	Human	5	name
14721667	CV656985	single nucleotide variant	NM_000302.4(PLOD1):c.1328+27T>G	not provided [RCV000831771]	likely benign	1	11964327	11964327	Human		name
14712804	CV657010	single nucleotide variant	NM_000302.4(PLOD1):c.579+274G>A	not provided [RCV000828539]	benign	1	11953009	11953009	Human		name
14712809	CV657014	single nucleotide variant	NM_000302.4(PLOD1):c.976-291A>G	not provided [RCV000828541]	benign	1	11960355	11960355	Human		name
14718947	CV657018	single nucleotide variant	NM_000302.4(PLOD1):c.976-262G>A	not provided [RCV000830557]	benign	1	11960384	11960384	Human		name
14735820	CV657032	single nucleotide variant	NM_000302.4(PLOD1):c.1329-94T>A	not provided [RCV000838192]	benign	1	11964550	11964550	Human		name
14735823	CV657042	single nucleotide variant	NM_000302.4(PLOD1):c.1470+81T>C	not provided [RCV000838193]	benign	1	11964866	11964866	Human		name
15134739	CV774360	single nucleotide variant	NM_000302.4(PLOD1):c.1203-10C>G	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001484762]	likely benign	1	11964165	11964165	Human	1	name
21405949	CV799104	single nucleotide variant	NM_000302.4(PLOD1):c.77-3407C>T	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001001495]\|PLOD1-related disorder [RCV003973018]\|not provided [RCV004714176]\|not specified [RCV005405479]	benign	1	11944569	11944569	Human	1	name , alternate_id
21406416	CV799106	duplication	NM_000302.4(PLOD1):c.1903-14dup	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001809891]\|not provided [RCV001585910]	benign\|likely benign	1	11972853	11972854	Human	1	name
28888378	CV864965	single nucleotide variant	NM_000302.4(PLOD1):c.1584+10G>A	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001099076]	conflicting interpretations of pathogenicity\|uncertain significance	1	11965603	11965603	Human	1	name
41405804	CV981217	single nucleotide variant	NM_000302.4(PLOD1):c.77-3403T>C	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001287541]	uncertain significance	1	11944573	11944573	Human	1	name
150332411	CV1170563	single nucleotide variant	NM_000302.4(PLOD1):c.1755+311G>T	not provided [RCV001539023]	likely benign	1	11967402	11967402	Human		name
150421293	CV1179097	single nucleotide variant	NM_000302.4(PLOD1):c.1203-237A>T	not provided [RCV001551949]	likely benign	1	11963938	11963938	Human		name
150423490	CV1182768	single nucleotide variant	NM_000302.4(PLOD1):c.1755+106G>A	not provided [RCV001555395]	likely benign	1	11967197	11967197	Human		name
150423679	CV1182769	single nucleotide variant	NM_000302.4(PLOD1):c.1903-335G>A	not provided [RCV001555649]	likely benign	1	11972537	11972537	Human		name
150405702	CV1189466	single nucleotide variant	NM_000302.4(PLOD1):c.1097+326A>T	not provided [RCV001564404]	likely benign	1	11961093	11961093	Human		name
150407381	CV1189467	single nucleotide variant	NM_000302.4(PLOD1):c.1584+138G>C	not provided [RCV001564998]	likely benign	1	11965731	11965731	Human		name
150417871	CV1192692	single nucleotide variant	NM_000302.4(PLOD1):c.1097+219T>C	not provided [RCV001568960]	likely benign	1	11960986	11960986	Human		name
150419206	CV1196455	single nucleotide variant	NM_000302.4(PLOD1):c.1470+196G>A	not provided [RCV001577072]	likely benign	1	11964981	11964981	Human		name
150415236	CV1196456	deletion	NM_000302.4(PLOD1):c.1471-315del	not provided [RCV001575309]	likely benign	1	11965151	11965151	Human		name
150421038	CV1196458	single nucleotide variant	NM_000302.4(PLOD1):c.1903-128T>G	not provided [RCV001577870]	likely benign	1	11972744	11972744	Human		name
150432750	CV1200783	single nucleotide variant	NM_000302.4(PLOD1):c.2029-179C>T	not provided [RCV001581507]	likely benign	1	11974474	11974474	Human		name
150467118	CV1207042	single nucleotide variant	NM_000302.4(PLOD1):c.1098-230G>A	not provided [RCV001587834]	likely benign	1	11963302	11963302	Human		name
150489096	CV1208367	deletion	NM_000302.4(PLOD1):c.1650+226del	not provided [RCV001592227]	likely benign	1	11966541	11966541	Human		name
150508457	CV1214049	single nucleotide variant	NM_000302.4(PLOD1):c.1585-269C>T	not provided [RCV001596570]	likely benign	1	11965982	11965982	Human		name
150447829	CV1216172	single nucleotide variant	NM_000302.4(PLOD1):c.1203-174T>C	not provided [RCV001611470]	benign	1	11964001	11964001	Human		name
150498465	CV1224141	single nucleotide variant	NM_000302.4(PLOD1):c.1755+182G>A	not provided [RCV001620254]	benign	1	11967273	11967273	Human		name
150445272	CV1233149	single nucleotide variant	NM_000302.4(PLOD1):c.1470+261A>C	not provided [RCV001645822]	benign	1	11965046	11965046	Human		name
150470767	CV1248068	single nucleotide variant	NM_000302.4(PLOD1):c.1203-194G>T	not provided [RCV001671104]	benign	1	11963981	11963981	Human		name
150510245	CV1248583	duplication	NM_000302.4(PLOD1):c.1471-315dup	not provided [RCV001659653]	benign	1	11965150	11965151	Human		name
150456142	CV1249572	single nucleotide variant	NM_000302.4(PLOD1):c.1902+122A>G	not provided [RCV001668787]	benign	1	11970938	11970938	Human		name
150490236	CV1250989	single nucleotide variant	NM_000302.4(PLOD1):c.1471-184T>C	not provided [RCV001674656]	benign	1	11965296	11965296	Human	1	name
150471842	CV1252145	single nucleotide variant	NM_000302.4(PLOD1):c.1903-275C>G	not provided [RCV001671346]	benign	1	11972597	11972597	Human		name
150464891	CV1252789	single nucleotide variant	NM_000302.4(PLOD1):c.1585-218A>G	not provided [RCV001670113]	benign	1	11966033	11966033	Human	3	name
150464891	CV1252789	single nucleotide variant	NM_000302.4(PLOD1):c.1585-218A>G	not provided [RCV001670113]	benign	1	11966033	11966034	Human	3	name
150439415	CV1264964	single nucleotide variant	NM_000302.4(PLOD1):c.2028+318C>T	not provided [RCV001678957]	benign	1	11973315	11973315	Human		name
150498400	CV1271504	single nucleotide variant	NM_000302.4(PLOD1):c.1203-155C>A	not provided [RCV001689194]	benign	1	11964020	11964020	Human		name
150448524	CV1275551	single nucleotide variant	NM_000302.4(PLOD1):c.1755+160G>A	not provided [RCV001708006]	benign	1	11967251	11967251	Human		name
14735815	CV656973	single nucleotide variant	NM_000302.4(PLOD1):c.1097+220T>C	not provided [RCV000838190]	benign	1	11960987	11960987	Human		name
14745914	CV657043	single nucleotide variant	NM_000302.4(PLOD1):c.1756-280G>A	not provided [RCV000843884]	benign	1	11970390	11970390	Human		name
8564216	CV29408	deletion	NM_000302.3(PLOD1):c.1756_1902del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000015445]	pathogenic\|likely pathogenic	1	11968246	11971649	Human	1	name
151823336	CV1456574	microsatellite	NM_000302.4(PLOD1):c.302+3_302+6del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002030103]	uncertain significance	1	11949905	11949908	Human		name
156270842	CV2055964	duplication	NM_000302.4(PLOD1):c.976-7_976-2dup	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002806655]	uncertain significance	1	11960633	11960634	Human	1	name
402509737	CV2946393	single nucleotide variant	NM_000302.4(PLOD1):c.9C>T (p.Pro3=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629307]	likely benign	1	11934788	11934788	Human	1	name
405102111	CV3119148	duplication	NM_000302.4(PLOD1):c.1756-1_1767dup	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003811599]	likely pathogenic	1	11970668	11970669	Human	1	name
151724749	CV1357078	deletion	NM_000302.4(PLOD1):c.1839_1902+64del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001966442]	likely pathogenic	1	11970753	11970880	Human	1	name
156119117	CV1952612	single nucleotide variant	NM_000302.4(PLOD1):c.25C>T (p.Leu9=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002571791]	likely benign	1	11934804	11934804	Human	1	name
405028045	CV2899471	deletion	NM_000302.4(PLOD1):c.467-13_467-6del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516415]	likely benign	1	11952607	11952614	Human	1	name
402524706	CV2982972	single nucleotide variant	NM_000302.4(PLOD1):c.10C>T (p.Leu4=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630488]	likely benign	1	11934789	11934789	Human	1	name
597891405	CV3836049	single nucleotide variant	NM_000302.4(PLOD1):c.12G>T (p.Leu4=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005179822]	likely benign	1	11934791	11934791	Human	1	name
127238174	CV1066119	single nucleotide variant	NM_000302.4(PLOD1):c.54G>A (p.Ala18=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001397276]	likely benign	1	11934833	11934833	Human	1	name
127307334	CV1130270	single nucleotide variant	NM_000302.4(PLOD1):c.72G>A (p.Pro24=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001500434]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002384840]	likely benign	1	11934851	11934851	Human	2	name
152073639	CV1551903	single nucleotide variant	NM_000302.4(PLOD1):c.33C>T (p.Gly11=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002075436]	likely benign	1	11934812	11934812	Human	1	name
152052232	CV1587230	microsatellite	NM_000302.4(PLOD1):c.303-18_303-17del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002145827]	likely benign	1	11950337	11950338	Human		name
152169679	CV1632555	microsatellite	NM_000302.4(PLOD1):c.644-17_644-16del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002142866]	likely benign	1	11956898	11956899	Human		name
155704367	CV1810675	single nucleotide variant	NM_000302.4(PLOD1):c.57G>A (p.Lys19=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002359864]	likely benign	1	11934836	11934836	Human	1	name
156293478	CV2009886	single nucleotide variant	NM_000302.4(PLOD1):c.96G>A (p.Thr32=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002715748]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004656969]	likely benign	1	11947995	11947995	Human	2	name
329846632	CV2523835	insertion	NM_000302.4(PLOD1):c.975+2_975+3insTT	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003226125]	likely pathogenic	1	11958648	11958649	Human	1	name
11548032	CV257908	single nucleotide variant	NM_000302.4(PLOD1):c.30G>C (p.Leu10=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634764]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311127]\|not specified [RCV004800365]	likely benign	1	11934809	11934809	Human	2	name
401885956	CV2793728	single nucleotide variant	NM_000302.4(PLOD1):c.48C>T (p.Ala16=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003778096]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003386950]	likely benign	1	11934827	11934827	Human	2	name
405043052	CV2991099	single nucleotide variant	NM_000302.4(PLOD1):c.90C>T (p.Val30=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630564]	likely benign	1	11947989	11947989	Human	1	name
402517056	CV3073653	single nucleotide variant	NM_000302.4(PLOD1):c.72G>T (p.Pro24=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629931]	likely benign	1	11934851	11934851	Human	1	name
402469810	CV3174821	single nucleotide variant	NM_000302.4(PLOD1):c.60C>T (p.Gly20=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003873932]	likely benign	1	11934839	11934839	Human	1	name
596926842	CV3530935	single nucleotide variant	NM_000302.4(PLOD1):c.1A>G (p.Met1Val)	not provided [RCV004778520]	pathogenic	1	11934780	11934780	Human		name
597954720	CV3796063	single nucleotide variant	NM_000302.4(PLOD1):c.3G>A (p.Met1Ile)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005136880]	pathogenic	1	11934782	11934782	Human	1	name
26918605	CV822599	single nucleotide variant	NM_000302.4(PLOD1):c.30G>A (p.Leu10=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001043971]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002320256]\|not provided [RCV001530987]	likely benign\|uncertain significance	1	11934809	11934809	Human	2	name
41405024	CV981216	single nucleotide variant	NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001285095]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004035529]	uncertain significance	1	11934783	11934783	Human	2	name
127269542	CV1066142	single nucleotide variant	NM_000302.4(PLOD1):c.189C>T (p.Asp63=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001404740]	likely benign	1	11949793	11949793	Human	1	name
127238437	CV1066143	single nucleotide variant	NM_000302.4(PLOD1):c.297A>G (p.Ala99=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001397324]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002438907]	likely benign	1	11949901	11949901	Human	2	name
152146607	CV1590549	single nucleotide variant	NM_000302.4(PLOD1):c.174T>G (p.Leu58=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002220146]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002398188]	likely benign	1	11949778	11949778	Human	2	name
155720173	CV1835743	single nucleotide variant	NM_000302.4(PLOD1):c.129C>A (p.Arg43=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002380744]	likely benign	1	11948028	11948028	Human	1	name
155670283	CV1852972	single nucleotide variant	NM_000302.4(PLOD1):c.264C>T (p.His88=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003102071]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002453043]	likely benign	1	11949868	11949868	Human	2	name
11542257	CV249371	single nucleotide variant	NM_000302.4(PLOD1):c.294C>T (p.Phe98=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000370739]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313973]\|not provided [RCV004713441]\|not specified [RCV000243254]	benign	1	11949898	11949898	Human	2	name
11551527	CV257910	single nucleotide variant	NM_000302.4(PLOD1):c.177C>T (p.Gly59=)	Ehlers-Danlos syndrome [RCV002278230]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000309864]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310881]\|not provided [RCV004713465]\|not specified [RCV000443057]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	11949781	11949781	Human	3	name
401781079	CV2734151	single nucleotide variant	NM_000302.4(PLOD1):c.285C>T (p.Val95=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003288376]	likely benign	1	11949889	11949889	Human	1	name
401867412	CV2748911	single nucleotide variant	NM_000302.4(PLOD1):c.210G>A (p.Thr70=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629268]\|not specified [RCV003331733]	likely benign	1	11949814	11949814	Human	1	name
405009005	CV2903524	single nucleotide variant	NM_000302.4(PLOD1):c.171G>A (p.Ala57=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514775]	likely benign	1	11949775	11949775	Human	1	name
402510988	CV2941966	single nucleotide variant	NM_000302.4(PLOD1):c.183G>A (p.Gly61=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629432]\|PLOD1-related disorder [RCV003939132]	likely benign	1	11949787	11949787	Human	1	name , alternate_id
405048229	CV3007129	single nucleotide variant	NM_000302.4(PLOD1):c.180A>G (p.Leu60=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630950]	likely benign	1	11949784	11949784	Human	1	name
402518240	CV3077199	single nucleotide variant	NM_000302.4(PLOD1):c.213G>A (p.Ser71=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630020]	likely benign	1	11949817	11949817	Human	1	name
405102755	CV3119518	microsatellite	NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003811780]	likely benign	1	11966233	11966234	Human		name
597767225	CV3715864	deletion	NM_000302.4(PLOD1):c.82del (p.Leu28fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005019852]	likely pathogenic	1	11947980	11947980	Human	1	name
597963771	CV3753878	single nucleotide variant	NM_000302.4(PLOD1):c.267A>G (p.Ala89=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005082182]	likely benign	1	11949871	11949871	Human	1	name
597832843	CV3760307	single nucleotide variant	NM_000302.4(PLOD1):c.216A>T (p.Ala72=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005085050]	likely benign	1	11949820	11949820	Human	1	name
597969106	CV3791202	single nucleotide variant	NM_000302.4(PLOD1):c.171G>C (p.Ala57=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005141234]	likely benign	1	11949775	11949775	Human	1	name
13539800	CV497983	single nucleotide variant	NM_000302.4(PLOD1):c.276G>A (p.Glu92=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000960732]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002438569]\|not provided [RCV001707757]	likely benign	1	11949880	11949880	Human	2	name
13618110	CV515065	single nucleotide variant	NM_000302.4(PLOD1):c.243G>A (p.Leu81=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001002656]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002458019]\|not provided [RCV001558198]	likely benign	1	11949847	11949847	Human	2	name
13618106	CV515069	single nucleotide variant	NM_000302.4(PLOD1):c.114C>T (p.Thr38=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002528868]	likely benign	1	11948013	11948013	Human	1	name
13618103	CV515072	single nucleotide variant	NM_000302.4(PLOD1):c.135G>A (p.Lys45=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634762]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822142]\|PLOD1-related disorder [RCV003892440]\|not provided [RCV001561076]	likely benign	1	11948034	11948034	Human	2	name , alternate_id
15138549	CV745608	single nucleotide variant	NM_000302.4(PLOD1):c.117G>A (p.Glu39=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000921353]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002336914]\|PLOD1-related disorder [RCV003903000]	likely benign	1	11948016	11948016	Human	2	name , alternate_id
15138923	CV761119	single nucleotide variant	NM_000302.4(PLOD1):c.159C>T (p.Tyr53=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001464044]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002400083]	likely benign	1	11948058	11948058	Human	2	name
15186893	CV761120	single nucleotide variant	NM_000302.4(PLOD1):c.253C>T (p.Leu85=)	not provided [RCV000931491]	likely benign	1	11949857	11949857	Human		name
15127607	CV780290	single nucleotide variant	NM_000302.4(PLOD1):c.246G>A (p.Lys82=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002548449]	likely benign	1	11949850	11949850	Human	1	name
126725972	CV1022573	single nucleotide variant	NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001348320]	uncertain significance	1	11934850	11934850	Human	1	name
127259357	CV1066144	single nucleotide variant	NM_000302.4(PLOD1):c.651C>T (p.Val217=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001419780]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002368317]	likely benign	1	11956924	11956924	Human	2	name
127276692	CV1087896	single nucleotide variant	NM_000302.4(PLOD1):c.930G>A (p.Arg310=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001443943]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377728]	likely benign	1	11958602	11958602	Human	2	name
127306270	CV1109399	single nucleotide variant	NM_000302.4(PLOD1):c.313C>T (p.Leu105=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001462745]	likely benign	1	11950367	11950367	Human	1	name
127295737	CV1109400	single nucleotide variant	NM_000302.4(PLOD1):c.562T>C (p.Leu188=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001452601]	likely benign	1	11952718	11952718	Human	1	name
127297708	CV1109401	single nucleotide variant	NM_000302.4(PLOD1):c.894G>A (p.Thr298=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001477685]	likely benign	1	11958566	11958566	Human	1	name
127323185	CV1130285	single nucleotide variant	NM_000302.4(PLOD1):c.309C>T (p.Asp103=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001485172]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002324079]\|not provided [RCV001557566]	likely benign	1	11950363	11950363	Human	2	name
127321160	CV1130286	single nucleotide variant	NM_000302.4(PLOD1):c.576G>A (p.Lys192=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001484451]	likely benign	1	11952732	11952732	Human	1	name
127311714	CV1130288	single nucleotide variant	NM_000302.4(PLOD1):c.834G>A (p.Lys278=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001481525]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002414166]	likely benign	1	11957934	11957934	Human	2	name
127323670	CV1130289	single nucleotide variant	NM_000302.4(PLOD1):c.939C>T (p.Tyr313=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001505505]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822410]\|not specified [RCV005237859]	likely benign	1	11958611	11958611	Human	2	name
127312759	CV1130290	single nucleotide variant	NM_000302.4(PLOD1):c.963C>T (p.Phe321=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001502006]	likely benign	1	11958635	11958635	Human	1	name
150541935	CV1302426	single nucleotide variant	NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001868535]\|not provided [RCV001761116]	uncertain significance	1	11934853	11934853	Human	1	name
151736764	CV1464761	deletion	NM_000302.4(PLOD1):c.272del (p.Lys91fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001946668]	pathogenic	1	11949875	11949875	Human	1	name
151734883	CV1508756	single nucleotide variant	NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002021689]	uncertain significance	1	11947979	11947979	Human	1	name
152043196	CV1522356	single nucleotide variant	NM_000302.4(PLOD1):c.853C>T (p.Leu285=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002088228]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002407399]\|not specified [RCV003331291]	likely benign	1	11958525	11958525	Human	2	name
152092029	CV1528925	single nucleotide variant	NM_000302.4(PLOD1):c.396C>T (p.Ile132=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002094317]	likely benign	1	11950450	11950450	Human	1	name
152150671	CV1531524	single nucleotide variant	NM_000302.4(PLOD1):c.438C>T (p.Ser146=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002201916]\|not specified [RCV005419411]	likely benign	1	11950492	11950492	Human	1	name
152052555	CV1531686	single nucleotide variant	NM_000302.4(PLOD1):c.921G>A (p.Arg307=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002072558]	likely benign	1	11958593	11958593	Human	1	name
152059259	CV1540441	single nucleotide variant	NM_000302.4(PLOD1):c.846T>C (p.Asp282=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002109910]\|not provided [RCV004711845]	likely benign	1	11958518	11958518	Human	1	name
152171151	CV1543980	single nucleotide variant	NM_000302.4(PLOD1):c.684G>A (p.Ala228=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002162007]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002361427]	likely benign	1	11956957	11956957	Human	2	name
152136086	CV1555248	single nucleotide variant	NM_000302.4(PLOD1):c.723T>C (p.His241=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002119722]	likely benign	1	11956996	11956996	Human	1	name
152149415	CV1569327	single nucleotide variant	NM_000302.4(PLOD1):c.498A>G (p.Lys166=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002220566]	likely benign	1	11952654	11952654	Human	1	name
152163177	CV1606445	single nucleotide variant	NM_000302.4(PLOD1):c.627C>T (p.Asn209=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002181289]	likely benign	1	11954877	11954877	Human	1	name
153347438	CV1694647	single nucleotide variant	NM_000302.4(PLOD1):c.354G>A (p.Arg118=)	Ehlers-Danlos syndrome [RCV002278049]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002337428]\|not specified [RCV004770438]	likely benign\|uncertain significance	1	11950408	11950408	Human	2	name
153347441	CV1694649	single nucleotide variant	NM_000302.4(PLOD1):c.70C>T (p.Pro24Ser)	Ehlers-Danlos syndrome [RCV002278051]	uncertain significance	1	11934849	11934849	Human	1	name
153347442	CV1694650	single nucleotide variant	NM_000302.4(PLOD1):c.873C>T (p.Gly291=)	Ehlers-Danlos syndrome [RCV002278052]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003096265]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002373071]\|not specified [RCV004690280]	likely benign\|uncertain significance	1	11958545	11958545	Human	3	name
155641832	CV1707151	single nucleotide variant	NM_000302.4(PLOD1):c.34T>C (p.Trp12Arg)	not provided [RCV002288081]	uncertain significance	1	11934813	11934813	Human		name
155739928	CV1794449	single nucleotide variant	NM_000302.4(PLOD1):c.435G>T (p.Val145=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002332340]	likely benign	1	11950489	11950489	Human	1	name
155738609	CV1805206	single nucleotide variant	NM_000302.4(PLOD1):c.459C>T (p.Gly153=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002342330]	likely benign	1	11950513	11950513	Human	1	name
155742690	CV1806164	single nucleotide variant	NM_000302.4(PLOD1):c.528C>T (p.Ser176=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003102719]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002344506]	likely benign	1	11952684	11952684	Human	2	name
155708837	CV1813995	single nucleotide variant	NM_000302.4(PLOD1):c.831C>G (p.Leu277=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002430413]	likely benign	1	11957931	11957931	Human	1	name
155721560	CV1817292	single nucleotide variant	NM_000302.4(PLOD1):c.864C>T (p.Val288=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514569]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002449634]	likely benign	1	11958536	11958536	Human	2	name
155670372	CV1819164	single nucleotide variant	NM_000302.4(PLOD1):c.70C>A (p.Pro24Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002367344]	uncertain significance	1	11934849	11934849	Human	1	name
155670762	CV1819272	single nucleotide variant	NM_000302.4(PLOD1):c.711G>A (p.Pro237=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003098476]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002367438]\|not specified [RCV004700740]	likely benign	1	11956984	11956984	Human	2	name
155665996	CV1819443	single nucleotide variant	NM_000302.4(PLOD1):c.73G>C (p.Glu25Gln)	Familial thoracic aortic aneurysm and aortic dissection [RCV002384873]	uncertain significance	1	11934852	11934852	Human	1	name
155717125	CV1822887	single nucleotide variant	NM_000302.4(PLOD1):c.732G>C (p.Gly244=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002380166]	likely benign	1	11957005	11957005	Human	1	name
155728709	CV1823381	single nucleotide variant	NM_000302.4(PLOD1):c.768C>T (p.Tyr256=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002400521]	likely benign	1	11957868	11957868	Human	1	name
156414689	CV1909067	single nucleotide variant	NM_000302.4(PLOD1):c.510G>A (p.Glu170=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002588752]	likely benign	1	11952666	11952666	Human	1	name
156405048	CV1916848	single nucleotide variant	NM_000302.4(PLOD1):c.828C>T (p.Ser276=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002606239]	likely benign	1	11957928	11957928	Human	1	name
155948693	CV1935922	single nucleotide variant	NM_000302.4(PLOD1):c.366C>T (p.Ser122=)	not provided [RCV002511573]	likely benign	1	11950420	11950420	Human		name
156119313	CV1952637	single nucleotide variant	NM_000302.4(PLOD1):c.417G>A (p.Glu139=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002571799]	likely benign	1	11950471	11950471	Human	1	name
156272794	CV1957264	single nucleotide variant	NM_000302.4(PLOD1):c.855G>A (p.Leu285=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002577220]	likely benign	1	11958527	11958527	Human	1	name
156266100	CV1960871	single nucleotide variant	NM_000302.4(PLOD1):c.351C>T (p.Phe117=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002577009]	likely benign	1	11950405	11950405	Human	1	name
156126531	CV2031257	single nucleotide variant	NM_000302.4(PLOD1):c.742C>T (p.Leu248=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002740403]	uncertain significance	1	11957842	11957842	Human	1	name
155922073	CV2073750	single nucleotide variant	NM_000302.4(PLOD1):c.618C>A (p.Ile206=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002838362]	likely benign	1	11954868	11954868	Human	1	name
156013652	CV2076415	single nucleotide variant	NM_000302.4(PLOD1):c.609C>G (p.Arg203=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002866238]	likely benign	1	11954859	11954859	Human	1	name
156038662	CV2089523	single nucleotide variant	NM_000302.4(PLOD1):c.873C>A (p.Gly291=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002867350]	likely benign	1	11958545	11958545	Human	1	name
156045643	CV2093272	single nucleotide variant	NM_000302.4(PLOD1):c.861G>T (p.Thr287=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002867606]	likely benign	1	11958533	11958533	Human	1	name
155947136	CV2108048	single nucleotide variant	NM_000302.4(PLOD1):c.340C>T (p.Leu114=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002904837]	likely benign	1	11950394	11950394	Human	1	name
155946715	CV2154853	single nucleotide variant	NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003014610]	uncertain significance	1	11934841	11934841	Human	1	name
329397716	CV2456516	single nucleotide variant	NM_000302.4(PLOD1):c.77A>G (p.Asp26Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004275656]	uncertain significance	1	11947976	11947976	Human	1	name
11550680	CV257909	single nucleotide variant	NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001854992]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311152]\|not provided [RCV001770225]\|not specified [RCV003323482]	uncertain significance	1	11947994	11947994	Human	2	name
11549875	CV257915	single nucleotide variant	NM_000302.4(PLOD1):c.936C>T (p.His312=)	Ehlers-Danlos syndrome [RCV002278236]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001516711]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310921]\|PLOD1-related disorder [RCV003909884]\|not specified [RCV000611924]	benign\|likely benign	1	11958608	11958608	Human	3	name , alternate_id
11552200	CV257919	single nucleotide variant	NM_000302.4(PLOD1):c.804C>T (p.Thr268=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000347703]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311122]\|PLOD1-related disorder [RCV003909889]\|not provided [RCV001530988]\|not specified [RCV004782331]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11957904	11957904	Human	2	name , alternate_id
401756581	CV2734159	single nucleotide variant	NM_000302.4(PLOD1):c.630G>A (p.Leu210=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003297359]	likely benign	1	11954880	11954880	Human	1	name
401756582	CV2734160	single nucleotide variant	NM_000302.4(PLOD1):c.64G>T (p.Ala22Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV003297360]	uncertain significance	1	11934843	11934843	Human	1	name
11579960	CV276156	single nucleotide variant	NM_000302.4(PLOD1):c.540G>A (p.Gln180=)	Ehlers-Danlos syndrome [RCV002278331]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000318266]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314035]\|not provided [RCV004710717]\|not specified [RCV000616105]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	11952696	11952696	Human	3	name
11580660	CV276420	single nucleotide variant	NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000340423]\|not provided [RCV001764257]	uncertain significance	1	11947988	11947988	Human	1	name
11577407	CV276783	single nucleotide variant	NM_000302.4(PLOD1):c.577A>C (p.Arg193=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000259668]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356401]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11952733	11952733	Human	2	name
405016356	CV2856564	single nucleotide variant	NM_000302.4(PLOD1):c.907C>T (p.Leu303=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515475]	likely benign	1	11958579	11958579	Human	1	name
405016042	CV2862576	single nucleotide variant	NM_000302.4(PLOD1):c.543G>C (p.Leu181=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515440]	likely benign	1	11952699	11952699	Human	1	name
405016562	CV2863284	single nucleotide variant	NM_000302.4(PLOD1):c.384T>G (p.Ala128=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515499]	likely benign	1	11950438	11950438	Human	1	name
405018462	CV2867990	deletion	NM_000302.4(PLOD1):c.1650+16_1650+19del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515661]	likely benign	1	11966331	11966334	Human	1	name
405018277	CV2871348	single nucleotide variant	NM_000302.4(PLOD1):c.999G>A (p.Val333=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515643]	likely benign	1	11960669	11960669	Human	1	name
405005549	CV2883069	single nucleotide variant	NM_000302.4(PLOD1):c.567C>T (p.Asp189=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514290]	likely benign	1	11952723	11952723	Human	1	name
405024375	CV2883690	single nucleotide variant	NM_000302.4(PLOD1):c.474C>T (p.Ile158=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516230]	likely benign	1	11952630	11952630	Human	1	name
405005116	CV2889347	single nucleotide variant	NM_000302.4(PLOD1):c.345G>A (p.Lys115=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514254]	likely benign	1	11950399	11950399	Human	1	name
405024220	CV2890030	single nucleotide variant	NM_000302.4(PLOD1):c.744G>A (p.Leu248=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516153]	likely benign	1	11957844	11957844	Human	1	name
405002770	CV2891532	single nucleotide variant	NM_000302.4(PLOD1):c.558C>T (p.Ile186=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514050]	likely benign	1	11952714	11952714	Human	1	name
405027947	CV2895317	single nucleotide variant	NM_000302.4(PLOD1):c.759G>A (p.Leu253=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516423]	likely benign	1	11957859	11957859	Human	1	name
405024963	CV2898161	duplication	NM_000302.4(PLOD1):c.153dup (p.Asn52fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516284]	pathogenic	1	11948051	11948052	Human	1	name
405025255	CV2904937	deletion	NM_000302.4(PLOD1):c.180del (p.Glu62fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516308]	pathogenic	1	11949784	11949784	Human	1	name
405009790	CV2907373	single nucleotide variant	NM_000302.4(PLOD1):c.474C>A (p.Ile158=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514821]	likely benign	1	11952630	11952630	Human	1	name
405011129	CV2908288	single nucleotide variant	NM_000302.4(PLOD1):c.771C>T (p.Ile257=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514947]	likely benign	1	11957871	11957871	Human	1	name
405012229	CV2913772	deletion	NM_000302.4(PLOD1):c.1098-20_1098-19del	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515073]	likely benign	1	11963512	11963513	Human	1	name
405020846	CV2926001	single nucleotide variant	NM_000302.4(PLOD1):c.541C>T (p.Leu181=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515895]	likely benign	1	11952697	11952697	Human	1	name
405022762	CV2927879	single nucleotide variant	NM_000302.4(PLOD1):c.628C>T (p.Leu210=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516076]	likely benign	1	11954878	11954878	Human	1	name
402512347	CV2954064	single nucleotide variant	NM_000302.4(PLOD1):c.624G>A (p.Gln208=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629521]	likely benign	1	11954874	11954874	Human	1	name
402521012	CV2967232	single nucleotide variant	NM_000302.4(PLOD1):c.639C>T (p.Ala213=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630207]	likely benign	1	11954889	11954889	Human	1	name
402524695	CV2982953	single nucleotide variant	NM_000302.4(PLOD1):c.360C>G (p.Ala120=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630487]	likely benign	1	11950414	11950414	Human	1	name
402524937	CV2983145	single nucleotide variant	NM_000302.4(PLOD1):c.654G>A (p.Val218=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630506]	likely benign	1	11956927	11956927	Human	1	name
402524246	CV2985804	single nucleotide variant	NM_000302.4(PLOD1):c.603C>T (p.Asp201=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630454]	likely benign	1	11954853	11954853	Human	1	name
405043746	CV2991820	single nucleotide variant	NM_000302.4(PLOD1):c.429G>T (p.Pro143=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630616]	likely benign	1	11950483	11950483	Human	1	name
405048064	CV3010445	single nucleotide variant	NM_000302.4(PLOD1):c.582G>A (p.Glu194=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630938]	likely benign	1	11954832	11954832	Human	1	name
405046973	CV3012807	single nucleotide variant	NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630854]	pathogenic	1	11947985	11947985	Human	1	name
405048555	CV3017488	single nucleotide variant	NM_000302.4(PLOD1):c.486C>A (p.Pro162=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630975]	likely benign	1	11952642	11952642	Human	1	name
402504433	CV3029747	single nucleotide variant	NM_000302.4(PLOD1):c.598C>T (p.Leu200=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628615]	likely benign	1	11954848	11954848	Human	1	name
402505790	CV3033096	single nucleotide variant	NM_000302.4(PLOD1):c.942C>G (p.Pro314=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628788]	likely benign	1	11958614	11958614	Human	1	name
402512965	CV3049345	single nucleotide variant	NM_000302.4(PLOD1):c.507C>T (p.Ala169=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629595]	likely benign	1	11952663	11952663	Human	1	name
402507448	CV3050685	single nucleotide variant	NM_000302.4(PLOD1):c.729C>T (p.Asn243=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628959]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005392671]\|not specified [RCV004765961]	likely benign	1	11957002	11957002	Human	2	name
402514868	CV3058955	single nucleotide variant	NM_000302.4(PLOD1):c.423G>A (p.Lys141=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629759]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823195]	likely benign	1	11950477	11950477	Human	2	name
402513376	CV3060099	single nucleotide variant	NM_000302.4(PLOD1):c.876G>A (p.Val292=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629629]	likely benign	1	11958548	11958548	Human	1	name
402513719	CV3060399	single nucleotide variant	NM_000302.4(PLOD1):c.312G>C (p.Val104=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629659]	likely benign	1	11950366	11950366	Human	1	name
402519099	CV3077859	single nucleotide variant	NM_000302.4(PLOD1):c.858C>T (p.Pro286=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630084]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004374374]	likely benign	1	11958530	11958530	Human	2	name
405013138	CV3128252	single nucleotide variant	NM_000302.4(PLOD1):c.726C>T (p.Gly242=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003829132]	likely benign	1	11956999	11956999	Human	1	name
405148062	CV3152155	single nucleotide variant	NM_000302.4(PLOD1):c.315G>A (p.Leu105=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003856126]	likely benign	1	11950369	11950369	Human	1	name
405211889	CV3173532	single nucleotide variant	NM_000302.4(PLOD1):c.955C>A (p.Arg319=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003862281]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823243]	likely benign	1	11958627	11958627	Human	2	name
405252586	CV3178036	single nucleotide variant	NM_000302.4(PLOD1):c.825C>T (p.Arg275=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003870816]	likely benign	1	11957925	11957925	Human	1	name
405252694	CV3178073	single nucleotide variant	NM_000302.4(PLOD1):c.651C>G (p.Val217=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003870853]	likely benign	1	11956924	11956924	Human	1	name
405227801	CV3180261	single nucleotide variant	NM_000302.4(PLOD1):c.429G>A (p.Pro143=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003864681]	likely benign	1	11950483	11950483	Human	1	name
405731671	CV3391760	single nucleotide variant	NM_000302.4(PLOD1):c.715C>T (p.Leu239=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525209]	likely benign	1	11956988	11956988	Human	1	name
407428134	CV3410084	single nucleotide variant	NM_000302.4(PLOD1):c.315G>C (p.Leu105=)	not specified [RCV004587692]	likely benign	1	11950369	11950369	Human		name
596920600	CV3533994	single nucleotide variant	NM_000302.4(PLOD1):c.330C>T (p.Pro110=)	not specified [RCV004783212]	likely benign	1	11950384	11950384	Human		name
597629009	CV3573045	single nucleotide variant	NM_000302.4(PLOD1):c.453C>T (p.Phe151=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821564]	likely benign	1	11950507	11950507	Human	1	name
597892591	CV3743860	single nucleotide variant	NM_000302.4(PLOD1):c.360C>T (p.Ala120=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005071330]	likely benign	1	11950414	11950414	Human	1	name
597911749	CV3745652	single nucleotide variant	NM_000302.4(PLOD1):c.324G>A (p.Ser108=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005073653]	uncertain significance	1	11950378	11950378	Human	1	name
597946102	CV3755497	single nucleotide variant	NM_000302.4(PLOD1):c.618C>T (p.Ile206=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005078506]	likely benign	1	11954868	11954868	Human	1	name
597947291	CV3771652	single nucleotide variant	NM_000302.4(PLOD1):c.492C>T (p.Leu164=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005120177]	likely benign	1	11952648	11952648	Human	1	name
597894894	CV3773374	single nucleotide variant	NM_000302.4(PLOD1):c.468C>T (p.Gly156=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005111281]	likely benign	1	11952624	11952624	Human	1	name
597880224	CV3783594	single nucleotide variant	NM_000302.4(PLOD1):c.897G>T (p.Pro299=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005124090]	likely benign	1	11958569	11958569	Human	1	name
597954766	CV3796073	single nucleotide variant	NM_000302.4(PLOD1):c.675T>C (p.His225=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005136890]	likely benign	1	11956948	11956948	Human	1	name
597925317	CV3863141	duplication	NM_000302.4(PLOD1):c.1755+17_1755+18dup	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005205629]	likely benign	1	11967107	11967108	Human	1	name
598175159	CV4006932	single nucleotide variant	NM_000302.4(PLOD1):c.795A>G (p.Thr265=)	Familial thoracic aortic aneurysm and aortic dissection [RCV005393446]	likely benign	1	11957895	11957895	Human	1	name
617153179	CV4018660	microsatellite	NM_000302.4(PLOD1):c.1328+2_1328+3delTG	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005418922]	likely pathogenic	1	11964297	11964298	Human		name
12900627	CV404888	deletion	NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002481525]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002376884]\|not provided [RCV000482810]\|not specified [RCV004586735]	likely benign\|uncertain significance	1	11934767	11934777	Human	2	name
13436703	CV433839	single nucleotide variant	NM_000302.4(PLOD1):c.303C>T (p.Ser101=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000547593]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314889]\|not provided [RCV001312061]\|not specified [RCV000507622]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11950357	11950357	Human	2	name
13489085	CV447025	single nucleotide variant	NM_000302.4(PLOD1):c.579G>A (p.Arg193=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000555163]	uncertain significance	1	11952735	11952735	Human	1	name
13490650	CV447033	single nucleotide variant	NM_000302.4(PLOD1):c.870C>T (p.Val290=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000533662]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314969]\|not provided [RCV001545116]	likely benign	1	11958542	11958542	Human	2	name
13477016	CV447037	single nucleotide variant	NM_000302.4(PLOD1):c.897G>A (p.Pro299=)	Ehlers-Danlos syndrome [RCV002279345]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000526950]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314970]\|PLOD1-related disorder [RCV003905350]\|not provided [RCV000604010]\|not specified [RCV00332359 ... (more) 6]	likely benign\|conflicting interpretations of pathogenicity	1	11958569	11958569	Human	3	name , alternate_id
13500719	CV447118	single nucleotide variant	NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000540592]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314965]\|not provided [RCV003441921]\|not specified [RCV003323595]	conflicting interpretations of pathogenicity\|uncertain significance	1	11934831	11934831	Human	2	name
13489957	CV447119	single nucleotide variant	NM_000302.4(PLOD1):c.774G>A (p.Pro258=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000533187]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002413478]\|not specified [RCV005239156]	likely benign	1	11957874	11957874	Human	2	name
13479005	CV447146	single nucleotide variant	NM_000302.4(PLOD1):c.975C>T (p.His325=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000527888]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314971]	likely benign\|uncertain significance	1	11958647	11958647	Human	2	name
13469161	CV447147	single nucleotide variant	NM_000302.4(PLOD1):c.570G>A (p.Pro190=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000545017]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002350214]\|not specified [RCV005404641]	likely benign\|uncertain significance	1	11952726	11952726	Human	2	name
13479319	CV447151	single nucleotide variant	NM_000302.4(PLOD1):c.861G>A (p.Thr287=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000528031]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377037]	likely benign\|uncertain significance	1	11958533	11958533	Human	2	name
13529582	CV509083	single nucleotide variant	NM_000302.4(PLOD1):c.336G>A (p.Glu112=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514395]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315144]	likely benign	1	11950390	11950390	Human	2	name
13533582	CV509085	single nucleotide variant	NM_000302.4(PLOD1):c.354G>C (p.Arg118=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514396]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315160]	likely benign	1	11950408	11950408	Human	2	name
13533610	CV509086	single nucleotide variant	NM_000302.4(PLOD1):c.534C>T (p.Ser178=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001488444]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315148]\|PLOD1-related disorder [RCV003917985]	likely benign	1	11952690	11952690	Human	2	name , alternate_id
13618112	CV515006	single nucleotide variant	NM_000302.4(PLOD1):c.951C>T (p.His317=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634769]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377373]	likely benign	1	11958623	11958623	Human	2	name
13618100	CV515087	single nucleotide variant	NM_000302.4(PLOD1):c.678G>A (p.Val226=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634760]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002360538]	likely benign	1	11956951	11956951	Human	2	name
13618109	CV515090	single nucleotide variant	NM_000302.4(PLOD1):c.789C>T (p.Phe263=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634767]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002420702]	likely benign	1	11957889	11957889	Human	2	name
14393848	CV609344	single nucleotide variant	NM_000302.4(PLOD1):c.882C>T (p.Ile294=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001469718]\|not provided [RCV000756556]\|not specified [RCV003323710]	likely benign	1	11958554	11958554	Human	1	name
14711448	CV655026	single nucleotide variant	NM_000302.4(PLOD1):c.331C>A (p.Arg111=)	Ehlers-Danlos syndrome [RCV002279554]\|not provided [RCV000828045]	likely benign\|uncertain significance	1	11950385	11950385	Human	1	name
15125571	CV690349	single nucleotide variant	NM_000302.4(PLOD1):c.411G>A (p.Arg137=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000874976]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002320043]\|PLOD1-related disorder [RCV003908312]\|not provided [RCV001580106]	likely benign	1	11950465	11950465	Human	2	name , alternate_id
15182000	CV696029	single nucleotide variant	NM_000302.4(PLOD1):c.777C>T (p.Arg259=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001475034]	likely benign	1	11957877	11957877	Human	1	name
15156309	CV745609	single nucleotide variant	NM_000302.4(PLOD1):c.759G>C (p.Leu253=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514437]	likely benign	1	11957859	11957859	Human	1	name
15143008	CV745610	single nucleotide variant	NM_000302.4(PLOD1):c.813C>T (p.Asp271=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001098986]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002416146]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11957913	11957913	Human	2	name
15124102	CV761121	single nucleotide variant	NM_000302.4(PLOD1):c.648G>A (p.Glu216=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001477789]	likely benign	1	11956921	11956921	Human	1	name
15177739	CV761122	single nucleotide variant	NM_000302.4(PLOD1):c.720C>T (p.Ile240=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001464469]	likely benign	1	11956993	11956993	Human	1	name
26885169	CV822600	single nucleotide variant	NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001053140]	uncertain significance	1	11934842	11934842	Human	1	name
28893027	CV862099	single nucleotide variant	NM_000302.4(PLOD1):c.948A>G (p.Lys316=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001100799]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002375022]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11958620	11958620	Human	2	name
38460100	CV918547	single nucleotide variant	NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001196359]	uncertain significance	1	11934850	11934850	Human	1	name
38494384	CV952034	single nucleotide variant	NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001241280]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003284110]	uncertain significance	1	11947981	11947981	Human	2	name
126774373	CV1022574	single nucleotide variant	NM_000302.4(PLOD1):c.170C>T (p.Ala57Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001347153]	uncertain significance	1	11949774	11949774	Human	1	name
126922306	CV1039392	single nucleotide variant	NM_000302.4(PLOD1):c.215C>T (p.Ala72Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001364518]	uncertain significance	1	11949819	11949819	Human	1	name
127258671	CV1058391	single nucleotide variant	NM_000302.4(PLOD1):c.145C>T (p.Gln49Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001386992]	pathogenic	1	11948044	11948044	Human	1	name
127260501	CV1087897	single nucleotide variant	NM_000302.4(PLOD1):c.1071G>A (p.Ala357=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001427855]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002420962]\|not provided [RCV001579997]	likely benign	1	11960741	11960741	Human	2	name
127279419	CV1087899	single nucleotide variant	NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001445761]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002384687]	likely benign	1	11964274	11964274	Human	2	name
127275871	CV1087909	single nucleotide variant	NM_000302.4(PLOD1):c.1926C>T (p.Val642=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001443530]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002414057]	likely benign	1	11972895	11972895	Human	2	name
127297265	CV1109402	single nucleotide variant	NM_000302.4(PLOD1):c.1321C>A (p.Arg441=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001477568]	likely benign	1	11964293	11964293	Human	1	name
127313766	CV1109403	single nucleotide variant	NM_000302.4(PLOD1):c.1464G>A (p.Arg488=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001457535]	likely benign	1	11964779	11964779	Human	1	name
127309996	CV1109404	single nucleotide variant	NM_000302.4(PLOD1):c.1887C>T (p.Pro629=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001456515]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003298783]\|not provided [RCV003426112]	likely benign	1	11970801	11970801	Human	2	name
127312063	CV1109416	single nucleotide variant	NM_000302.4(PLOD1):c.1929C>T (p.Val643=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001464284]	likely benign	1	11972898	11972898	Human	1	name
127316282	CV1130291	single nucleotide variant	NM_000302.4(PLOD1):c.1197G>A (p.Gln399=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001482767]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002342088]	likely benign	1	11963631	11963631	Human	2	name
127336619	CV1130292	single nucleotide variant	NM_000302.4(PLOD1):c.1401G>A (p.Gln467=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001492297]\|not provided [RCV001815566]	likely benign	1	11964716	11964716	Human	1	name
127333342	CV1130293	single nucleotide variant	NM_000302.4(PLOD1):c.1515G>A (p.Leu505=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001490113]	likely benign	1	11965524	11965524	Human	1	name
127319310	CV1130296	single nucleotide variant	NM_000302.4(PLOD1):c.1998C>T (p.Ile666=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001483810]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002421106]	likely benign	1	11972967	11972967	Human	2	name
127327206	CV1130309	single nucleotide variant	NM_000302.4(PLOD1):c.2172C>T (p.Phe724=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001486264]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002432366]	likely benign	1	11974796	11974796	Human	2	name
150530959	CV1299194	single nucleotide variant	NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002540384]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002414314]\|not provided [RCV001756887]	uncertain significance	1	11949786	11949786	Human	2	name
150542588	CV1302645	single nucleotide variant	NM_000302.4(PLOD1):c.230A>C (p.Lys77Thr)	not provided [RCV001761335]	uncertain significance	1	11949834	11949834	Human		name
151805586	CV1427178	single nucleotide variant	NM_000302.4(PLOD1):c.128G>A (p.Arg43His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001899467]	uncertain significance	1	11948027	11948027	Human	1	name
151768160	CV1445375	single nucleotide variant	NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002025100]	uncertain significance	1	11949780	11949780	Human	1	name
151745630	CV1450493	single nucleotide variant	NM_000302.4(PLOD1):c.1194A>G (p.Gln398=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001893739]	likely benign\|uncertain significance	1	11963628	11963628	Human	1	name
151753623	CV1471159	single nucleotide variant	NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001948398]	uncertain significance	1	11949816	11949816	Human	1	name
151865194	CV1477446	single nucleotide variant	NM_000302.4(PLOD1):c.125G>A (p.Arg42His)	Ehlers-Danlos syndrome [RCV002276941]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001939072]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003167326]	uncertain significance	1	11948024	11948024	Human	3	name
151854429	CV1481633	single nucleotide variant	NM_000302.4(PLOD1):c.1872G>A (p.Thr624=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002033593]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002407245]	likely benign\|uncertain significance	1	11970786	11970786	Human	2	name
152150584	CV1531477	single nucleotide variant	NM_000302.4(PLOD1):c.1494C>T (p.Asn498=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002201903]	likely benign	1	11965503	11965503	Human	1	name
152114437	CV1534591	single nucleotide variant	NM_000302.4(PLOD1):c.1791G>A (p.Pro597=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002097281]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002409491]	likely benign	1	11970705	11970705	Human	2	name
152170771	CV1536547	single nucleotide variant	NM_000302.4(PLOD1):c.1170C>T (p.Pro390=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002183272]	likely benign	1	11963604	11963604	Human	1	name
152126273	CV1544722	single nucleotide variant	NM_000302.4(PLOD1):c.1629G>C (p.Leu543=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002154917]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822988]	likely benign	1	11966295	11966295	Human	2	name
152046282	CV1548229	single nucleotide variant	NM_000302.4(PLOD1):c.1635G>A (p.Gly545=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002071628]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002398257]	likely benign	1	11966301	11966301	Human	2	name
152073116	CV1556546	single nucleotide variant	NM_000302.4(PLOD1):c.1317G>A (p.Gln439=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002111730]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004045872]\|PLOD1-related disorder [RCV003958684]	likely benign	1	11964289	11964289	Human	2	name , alternate_id
152132264	CV1585051	single nucleotide variant	NM_000302.4(PLOD1):c.1293C>T (p.Ser431=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002083023]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002382322]	likely benign	1	11964265	11964265	Human	2	name
152042093	CV1609166	single nucleotide variant	NM_000302.4(PLOD1):c.2043G>T (p.Arg681=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002188398]	likely benign	1	11974667	11974667	Human	1	name
152147957	CV1647418	single nucleotide variant	NM_000302.4(PLOD1):c.1542C>T (p.Thr514=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002201517]	likely benign	1	11965551	11965551	Human	1	name
153347444	CV1694651	duplication	NM_000302.4(PLOD1):c.979dup (p.Gln327fs)	Ehlers-Danlos syndrome [RCV002278053]	likely pathogenic	1	11960648	11960649	Human	1	name
155667042	CV1803130	single nucleotide variant	NM_000302.4(PLOD1):c.1200C>T (p.Asn400=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002349431]	likely benign	1	11963634	11963634	Human	1	name
155732627	CV1826461	single nucleotide variant	NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629222]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002383418]	likely benign	1	11964674	11964674	Human	2	name
155677143	CV1829489	single nucleotide variant	NM_000302.4(PLOD1):c.1341T>C (p.Asn447=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002387732]	likely benign	1	11964656	11964656	Human	1	name
155708025	CV1833522	single nucleotide variant	NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629225]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002403261]	likely benign	1	11965555	11965555	Human	2	name
155731979	CV1833916	single nucleotide variant	NM_000302.4(PLOD1):c.1623A>G (p.Lys541=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002401098]	likely benign	1	11966289	11966289	Human	1	name
155732204	CV1833971	single nucleotide variant	NM_000302.4(PLOD1):c.1626C>G (p.Ala542=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002401155]	likely benign	1	11966292	11966292	Human	1	name
155732897	CV1834130	single nucleotide variant	NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514576]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002401314]\|not specified [RCV005419457]	likely benign	1	11966298	11966298	Human	2	name
155721452	CV1834575	single nucleotide variant	NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629227]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002398943]	likely benign	1	11967049	11967049	Human	2	name
155714629	CV1834778	single nucleotide variant	NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629229]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404151]\|PLOD1-related disorder [RCV003971292]	likely benign	1	11970699	11970699	Human	2	name , alternate_id
155732784	CV1835454	single nucleotide variant	NM_000302.4(PLOD1):c.1890C>A (p.Gly630=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002408014]	likely benign	1	11970804	11970804	Human	1	name
155699245	CV1836474	single nucleotide variant	NM_000302.4(PLOD1):c.1437C>G (p.Pro479=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002394286]	likely benign	1	11964752	11964752	Human	1	name
155699256	CV1836477	single nucleotide variant	NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629223]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002394289]	likely benign	1	11964752	11964752	Human	2	name
155693164	CV1837027	single nucleotide variant	NM_000302.4(PLOD1):c.1524A>G (p.Leu508=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002392490]	likely benign	1	11965533	11965533	Human	1	name
155720266	CV1837488	single nucleotide variant	NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003100746]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002398775]	likely benign	1	11966271	11966271	Human	2	name
155724533	CV1838093	single nucleotide variant	NM_000302.4(PLOD1):c.1692G>A (p.Val564=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514577]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002406172]	likely benign	1	11967028	11967028	Human	2	name
155702411	CV1838294	single nucleotide variant	NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629228]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002401707]	likely benign	1	11970678	11970678	Human	2	name
155713981	CV1838574	single nucleotide variant	NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003097238]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404031]	likely benign	1	11970693	11970693	Human	2	name
155743111	CV1839270	single nucleotide variant	NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003774523]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002412689]	likely benign	1	11970747	11970747	Human	2	name
155683592	CV1839968	single nucleotide variant	NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629230]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002423744]	likely benign	1	11972955	11972955	Human	2	name
155722159	CV1840765	single nucleotide variant	NM_000302.4(PLOD1):c.217G>A (p.Gly73Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002432878]	uncertain significance	1	11949821	11949821	Human	1	name
155747961	CV1846437	single nucleotide variant	NM_000302.4(PLOD1):c.200A>G (p.Glu67Gly)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005097888]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002417313]	likely benign\|uncertain significance	1	11949804	11949804	Human	2	name
155748108	CV1846563	single nucleotide variant	NM_000302.4(PLOD1):c.2019G>C (p.Val673=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002417440]	likely benign	1	11972988	11972988	Human	1	name
155704204	CV1848991	single nucleotide variant	NM_000302.4(PLOD1):c.268G>A (p.Asp90Asn)	Familial thoracic aortic aneurysm and aortic dissection [RCV002428939]	uncertain significance	1	11949872	11949872	Human	1	name
156407700	CV1868852	single nucleotide variant	NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003070977]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005399073]\|not specified [RCV003324066]	likely benign	1	11965569	11965569	Human	2	name
155976560	CV1886080	single nucleotide variant	NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003075446]	likely benign	1	11972877	11972877	Human	1	name
156301089	CV1929674	single nucleotide variant	NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002647643]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003368032]	likely benign	1	11972994	11972994	Human	2	name
10048456	CV193408	single nucleotide variant	NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)	Ehlers-Danlos syndrome [RCV002277386]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000276149]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314625]\|not provided [RCV004713398]\|not specified [RCV000177032]	benign\|likely benign	1	11949899	11949899	Human	3	name
156018529	CV2019206	single nucleotide variant	NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002690884]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823053]	likely benign	1	11970717	11970717	Human	2	name
156012000	CV2039374	single nucleotide variant	NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002756736]	uncertain significance	1	11949884	11949884	Human	1	name
156011058	CV2045683	deletion	NM_000302.4(PLOD1):c.331del (p.Arg111fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002780144]	pathogenic	1	11950382	11950382	Human	1	name
155995165	CV2060130	single nucleotide variant	NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002819388]	likely benign	1	11965587	11965587	Human	1	name
156152571	CV2070467	single nucleotide variant	NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002850919]	likely benign	1	11970780	11970780	Human	1	name
156230242	CV2085211	single nucleotide variant	NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002876209]	likely benign	1	11974679	11974679	Human	1	name
156238580	CV2090314	single nucleotide variant	NM_000302.4(PLOD1):c.1305G>A (p.Val435=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002894828]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004065951]	likely benign	1	11964277	11964277	Human	2	name
156011876	CV2096253	single nucleotide variant	NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002909154]	likely benign	1	11964662	11964662	Human	1	name
156011919	CV2096255	single nucleotide variant	NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002909156]	likely benign	1	11964671	11964671	Human	1	name
155959957	CV2133734	single nucleotide variant	NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003015414]	uncertain significance	1	11949894	11949894	Human	1	name
150423764	CV215016	single nucleotide variant	NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001854839]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002379035]\|not provided [RCV001555764]	uncertain significance	1	11948035	11948035	Human	2	name
156160970	CV2191827	single nucleotide variant	NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003040708]	uncertain significance	1	11949828	11949828	Human	1	name
156159378	CV2262565	single nucleotide variant	NM_000302.4(PLOD1):c.103A>G (p.Thr35Ala)	Familial thoracic aortic aneurysm and aortic dissection [RCV004130773]	uncertain significance	1	11948002	11948002	Human	1	name
329384636	CV2426207	single nucleotide variant	NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629250]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003176799]	likely benign	1	11974760	11974760	Human	2	name
329384642	CV2426212	single nucleotide variant	NM_000302.4(PLOD1):c.1629G>A (p.Leu543=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003176804]	likely benign	1	11966295	11966295	Human	1	name
11542390	CV249373	single nucleotide variant	NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000350343]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313971]\|not provided [RCV004714565]\|not specified [RCV000252620]	benign	1	11964178	11964178	Human	2	name
11542378	CV249376	single nucleotide variant	NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000334136]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313972]\|not provided [RCV004713440]\|not specified [RCV000251663]	benign\|likely benign	1	11966298	11966298	Human	2	name
11547097	CV257912	single nucleotide variant	NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)	Ehlers-Danlos syndrome [RCV002278234]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000306286]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310918]\|not provided [RCV001573881]\|not specified [RCV000424139]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	11949854	11949854	Human	3	name
11546834	CV257914	single nucleotide variant	NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000820620]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311231]	uncertain significance	1	11949869	11949869	Human	2	name
11551078	CV257920	single nucleotide variant	NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)	Ehlers-Danlos syndrome [RCV002278242]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001089433]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310988]\|not provided [RCV000842331]	likely benign\|drug response\|uncertain significance	1	11963574	11963574	Human	3	name
11549835	CV257923	single nucleotide variant	NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)	Ehlers-Danlos syndrome [RCV002278231]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000261133]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310883]\|not provided [RCV004714627]\|not specified [RCV000432052]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	11974757	11974757	Human	3	name
11549596	CV257924	single nucleotide variant	NM_000302.4(PLOD1):c.1788G>T (p.Val596=)	Ehlers-Danlos syndrome [RCV002278232]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000266440]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310886]\|not provided [RCV004713466]\|not specified [RCV000430533]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	11970702	11970702	Human	3	name
11546218	CV257925	single nucleotide variant	NM_000302.4(PLOD1):c.1299C>T (p.Asp433=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002059042]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311121]	likely benign	1	11964271	11964271	Human	2	name
11551889	CV257927	single nucleotide variant	NM_000302.4(PLOD1):c.2124T>C (p.His708=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000353555]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310880]\|not provided [RCV001795471]\|not specified [RCV000441232]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	11974748	11974748	Human	2	name
11547754	CV257935	single nucleotide variant	NM_000302.4(PLOD1):c.2181C>T (p.Pro727=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000877430]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002311093]	likely benign	1	11974805	11974805	Human	2	name
11632682	CV269140	deletion	NM_000302.4(PLOD1):c.327del (p.Arg111fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000819031]\|not provided [RCV000276190]	pathogenic	1	11950378	11950378	Human	1	name
401753791	CV2716887	single nucleotide variant	NM_000302.4(PLOD1):c.1968C>T (p.His656=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629260]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003296302]	likely benign	1	11972937	11972937	Human	2	name
401753795	CV2716889	single nucleotide variant	NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629261]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003296304]	likely benign	1	11970792	11970792	Human	2	name
11632844	CV272764	deletion	NM_000302.4(PLOD1):c.402del (p.Asp135fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629111]\|not provided [RCV000290872]	pathogenic	1	11950456	11950456	Human	1	name
401756577	CV2734156	single nucleotide variant	NM_000302.4(PLOD1):c.155A>G (p.Asn52Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV003297356]	uncertain significance	1	11948054	11948054	Human	1	name
401756578	CV2734157	single nucleotide variant	NM_000302.4(PLOD1):c.153C>G (p.Phe51Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV003297357]	uncertain significance	1	11948052	11948052	Human	1	name
11579474	CV276190	single nucleotide variant	NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000304670]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002418141]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11974784	11974784	Human	2	name
11579839	CV276427	single nucleotide variant	NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)	Ehlers-Danlos syndrome [RCV002278332]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000314130]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002338870]\|not provided [RCV001706428]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11963616	11963616	Human	3	name
11581972	CV276433	single nucleotide variant	NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000392432]	conflicting interpretations of pathogenicity\|uncertain significance	1	11967022	11967022	Human	1	name
11664589	CV276781	single nucleotide variant	NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000407342]	uncertain significance	1	11949839	11949839	Human	1	name
11580833	CV276813	single nucleotide variant	NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000345977]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004021353]\|not specified [RCV005238864]	uncertain significance	1	11949788	11949788	Human	2	name
11581088	CV276836	single nucleotide variant	NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)	Ehlers-Danlos syndrome [RCV002278333]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000355317]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314037]\|PLOD1-related disorder [RCV003949965]\|not provided [RCV001580034]\|not specified [RCV00060306 ... (more) 1]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11964743	11964743	Human	3	name , alternate_id
11581640	CV276837	single nucleotide variant	NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000378292]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002411181]\|not provided [RCV001706431]\|not specified [RCV005407029]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11970732	11970732	Human	2	name
401878205	CV2790779	single nucleotide variant	NM_000302.4(PLOD1):c.1230G>C (p.Arg410=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003384147]	likely benign	1	11964202	11964202	Human	1	name
401878206	CV2790780	single nucleotide variant	NM_000302.4(PLOD1):c.1599G>A (p.Lys533=)	Familial thoracic aortic aneurysm and aortic dissection [RCV003384148]	likely benign	1	11966265	11966265	Human	1	name
401878207	CV2790781	single nucleotide variant	NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629272]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003384149]	likely benign	1	11970780	11970780	Human	2	name
405016234	CV2859886	single nucleotide variant	NM_000302.4(PLOD1):c.1344G>A (p.Val448=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515461]	likely benign	1	11964659	11964659	Human	1	name
405001812	CV2869709	single nucleotide variant	NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003513935]	likely benign	1	11970801	11970801	Human	1	name
405018574	CV2878485	single nucleotide variant	NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515671]	likely benign	1	11964701	11964701	Human	1	name
405018633	CV2878663	single nucleotide variant	NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515677]	likely benign	1	11963535	11963535	Human	1	name
405023928	CV2887202	single nucleotide variant	NM_000302.4(PLOD1):c.1665C>T (p.Val555=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516216]	likely benign	1	11967001	11967001	Human	1	name
405004881	CV2892942	single nucleotide variant	NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514234]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005392634]	likely benign	1	11974787	11974787	Human	2	name
405024976	CV2898162	single nucleotide variant	NM_000302.4(PLOD1):c.254T>C (p.Leu85Pro)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516285]	likely pathogenic	1	11949858	11949858	Human	1	name
405026827	CV2899565	single nucleotide variant	NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516462]	likely benign	1	11966989	11966989	Human	1	name
405026881	CV2899747	single nucleotide variant	NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516466]	likely benign	1	11970714	11970714	Human	1	name
405009480	CV2900936	single nucleotide variant	NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514794]	likely benign	1	11966293	11966293	Human	1	name
405009380	CV2903724	single nucleotide variant	NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514784]	likely benign	1	11960708	11960708	Human	1	name
405031398	CV2906888	single nucleotide variant	NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516614]	likely benign	1	11972880	11972880	Human	1	name
405014076	CV2910845	single nucleotide variant	NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515244]	likely benign	1	11974754	11974754	Human	1	name
405010410	CV2912397	single nucleotide variant	NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514904]	likely benign	1	11974658	11974658	Human	1	name
405011448	CV2915710	single nucleotide variant	NM_000302.4(PLOD1):c.274G>T (p.Glu92Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514976]	pathogenic	1	11949878	11949878	Human	1	name
405014848	CV2919740	single nucleotide variant	NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515016]	likely benign	1	11974793	11974793	Human	1	name
405013071	CV2920717	single nucleotide variant	NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515151]	likely benign	1	11967058	11967058	Human	1	name
405014257	CV2921745	single nucleotide variant	NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003515260]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823170]	likely benign	1	11974739	11974739	Human	2	name
405022923	CV2933755	single nucleotide variant	NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003516091]	likely benign	1	11974760	11974760	Human	1	name
402511624	CV2938050	single nucleotide variant	NM_000302.4(PLOD1):c.1233T>C (p.His411=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629395]	likely benign	1	11964205	11964205	Human	1	name
402510235	CV2940273	single nucleotide variant	NM_000302.4(PLOD1):c.1419C>T (p.His473=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629341]	likely benign	1	11964734	11964734	Human	1	name
402510415	CV2943987	single nucleotide variant	NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629358]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005392651]	likely benign	1	11963620	11963620	Human	2	name
402520231	CV2952505	single nucleotide variant	NM_000302.4(PLOD1):c.1971T>C (p.His657=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630145]	likely benign	1	11972940	11972940	Human	1	name
402511889	CV2953258	single nucleotide variant	NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629483]	likely benign	1	11972916	11972916	Human	1	name
402511520	CV2956806	single nucleotide variant	NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629477]	likely benign	1	11972946	11972946	Human	1	name
402521343	CV2967995	single nucleotide variant	NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630233]	likely benign	1	11970810	11970810	Human	1	name
402523786	CV2981638	single nucleotide variant	NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630418]	likely benign	1	11965557	11965557	Human	1	name
405044372	CV2992852	single nucleotide variant	NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630684]	likely benign	1	11970729	11970729	Human	1	name
405045680	CV2999454	single nucleotide variant	NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630665]	likely benign	1	11964202	11964202	Human	1	name
405044416	CV3002878	single nucleotide variant	NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630687]	likely benign	1	11972874	11972874	Human	1	name
405048128	CV3006942	single nucleotide variant	NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630943]	likely benign	1	11972874	11972874	Human	1	name
405048274	CV3017034	single nucleotide variant	NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630953]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823187]	likely benign	1	11964256	11964256	Human	2	name
402503803	CV3026248	duplication	NM_000302.4(PLOD1):c.486dup (p.Asn163fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628622]	pathogenic	1	11952637	11952638	Human	1	name
402505716	CV3035784	single nucleotide variant	NM_000302.4(PLOD1):c.1050G>C (p.Val350=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628780]	likely benign	1	11960720	11960720	Human	1	name
402505737	CV3035846	single nucleotide variant	NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628782]	likely benign	1	11974739	11974739	Human	1	name
402505202	CV3040372	single nucleotide variant	NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628730]	likely benign	1	11963536	11963536	Human	1	name
402506529	CV3043079	single nucleotide variant	NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628864]	likely benign	1	11966280	11966280	Human	1	name
402507061	CV3050103	single nucleotide variant	NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628918]	likely benign	1	11964220	11964220	Human	1	name
402517340	CV3071218	single nucleotide variant	NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629952]	likely benign	1	11972926	11972926	Human	1	name
402517888	CV3071642	single nucleotide variant	NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629995]	likely benign	1	11970798	11970798	Human	1	name
402517178	CV3073873	single nucleotide variant	NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629940]	likely benign	1	11970687	11970687	Human	1	name
402516765	CV3079200	single nucleotide variant	NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003629909]	likely benign	1	11974655	11974655	Human	1	name
404996230	CV3123770	single nucleotide variant	NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003827676]	likely benign	1	11965488	11965488	Human	1	name
405089461	CV3138192	single nucleotide variant	NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003834710]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823238]	likely benign	1	11964253	11964253	Human	2	name
405105934	CV3139972	single nucleotide variant	NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003835383]	likely benign	1	11974763	11974763	Human	1	name
405180174	CV3148859	single nucleotide variant	NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003858637]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004823240]\|PLOD1-related disorder [RCV003949061]	likely benign	1	11974709	11974709	Human	2	name , alternate_id
405187431	CV3156517	single nucleotide variant	NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003859395]	likely benign	1	11974802	11974802	Human	1	name
405235867	CV3168928	single nucleotide variant	NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003866207]	likely benign	1	11974781	11974781	Human	1	name
402473701	CV3172251	single nucleotide variant	NM_000302.4(PLOD1):c.1710G>A (p.Val570=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003874854]	likely benign	1	11967046	11967046	Human	1	name
402473709	CV3172253	single nucleotide variant	NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003874856]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004369644]	likely benign	1	11967088	11967088	Human	2	name
405254185	CV3175022	single nucleotide variant	NM_000302.4(PLOD1):c.1806C>T (p.His602=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003871474]	likely benign	1	11970720	11970720	Human	1	name
404982941	CV3179613	single nucleotide variant	NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003880594]	likely benign	1	11963613	11963613	Human	1	name
405275658	CV3196379	single nucleotide variant	NM_000302.4(PLOD1):c.1176C>T (p.Ser392=)	PLOD1-related disorder [RCV003974221]	likely benign	1	11963610	11963610	Human		name , trait , alternate_id
405716418	CV3391741	single nucleotide variant	NM_000302.4(PLOD1):c.1177C>T (p.Leu393=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004523233]	likely benign	1	11963611	11963611	Human	1	name
405716474	CV3391749	single nucleotide variant	NM_000302.4(PLOD1):c.1639C>T (p.Leu547=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004523241]	likely benign	1	11966305	11966305	Human	1	name
405716489	CV3391751	single nucleotide variant	NM_000302.4(PLOD1):c.1932C>T (p.Arg644=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004523243]	likely benign	1	11972901	11972901	Human	1	name
405731636	CV3391755	single nucleotide variant	NM_000302.4(PLOD1):c.274G>C (p.Glu92Gln)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525204]	uncertain significance	1	11949878	11949878	Human	1	name
407471252	CV3467418	single nucleotide variant	NM_000302.4(PLOD1):c.1566G>A (p.Glu522=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004662229]	likely benign	1	11965575	11965575	Human	1	name
596947236	CV3548786	single nucleotide variant	NM_000302.4(PLOD1):c.1593G>A (p.Lys531=)	not provided [RCV004811110]	uncertain significance	1	11966259	11966259	Human		name
597629023	CV3573039	single nucleotide variant	NM_000302.4(PLOD1):c.275A>G (p.Glu92Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821559]	uncertain significance	1	11949879	11949879	Human	1	name
597629003	CV3573047	single nucleotide variant	NM_000302.4(PLOD1):c.1368G>A (p.Leu456=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821566]	likely benign	1	11964683	11964683	Human	1	name
597628998	CV3573049	single nucleotide variant	NM_000302.4(PLOD1):c.1323G>A (p.Arg441=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821568]	likely benign	1	11964295	11964295	Human	1	name
597628985	CV3573054	single nucleotide variant	NM_000302.4(PLOD1):c.2094C>G (p.Leu698=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821572]	likely benign	1	11974718	11974718	Human	1	name
597628982	CV3573055	single nucleotide variant	NM_000302.4(PLOD1):c.1290T>C (p.Arg430=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821573]	likely benign	1	11964262	11964262	Human	1	name
597628978	CV3573056	single nucleotide variant	NM_000302.4(PLOD1):c.2103T>C (p.Pro701=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821574]	likely benign	1	11974727	11974727	Human	1	name
597628976	CV3573057	single nucleotide variant	NM_000302.4(PLOD1):c.1311T>C (p.Ile437=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821575]	likely benign	1	11964283	11964283	Human	1	name
597628971	CV3573058	single nucleotide variant	NM_000302.4(PLOD1):c.1266C>G (p.Leu422=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821576]	likely benign	1	11964238	11964238	Human	1	name
597628969	CV3573059	single nucleotide variant	NM_000302.4(PLOD1):c.2061T>C (p.Cys687=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821577]	likely benign	1	11974685	11974685	Human	1	name
597628872	CV3573060	single nucleotide variant	NM_000302.4(PLOD1):c.1263T>A (p.Ala421=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821578]	likely benign	1	11964235	11964235	Human	1	name
597628806	CV3573061	single nucleotide variant	NM_000302.4(PLOD1):c.2077A>C (p.Arg693=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821579]	likely benign	1	11974701	11974701	Human	1	name
597628812	CV3573064	single nucleotide variant	NM_000302.4(PLOD1):c.2106A>G (p.Gly702=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821581]	likely benign	1	11974730	11974730	Human	1	name
597628813	CV3573065	single nucleotide variant	NM_000302.4(PLOD1):c.2118T>C (p.His706=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821582]	likely benign	1	11974742	11974742	Human	1	name
597628824	CV3573069	single nucleotide variant	NM_000302.4(PLOD1):c.1413C>G (p.Leu471=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821586]	likely benign	1	11964728	11964728	Human	1	name
597628828	CV3573071	single nucleotide variant	NM_000302.4(PLOD1):c.1410T>C (p.Asp470=)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821587]	likely benign	1	11964725	11964725	Human	1	name
12836981	CV364317	single nucleotide variant	NM_000302.4(PLOD1):c.1164C>T (p.Thr388=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000545561]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313132]\|not provided [RCV001579478]\|not specified [RCV003323540]	benign\|likely benign	1	11963598	11963598	Human	2	name
12843796	CV364381	single nucleotide variant	NM_000302.4(PLOD1):c.1149T>C (p.Ala383=)	Familial thoracic aortic aneurysm and aortic dissection [RCV002451052]\|not specified [RCV000436864]	likely benign	1	11963583	11963583	Human	1	name
12835577	CV364397	single nucleotide variant	NM_000302.4(PLOD1):c.1218G>A (p.Pro406=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001415709]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002365554]\|not specified [RCV000421923]	likely benign	1	11964190	11964190	Human	2	name
597852681	CV3743424	single nucleotide variant	NM_000302.4(PLOD1):c.2148C>T (p.Gly716=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005060774]	likely benign	1	11974772	11974772	Human	1	name
597946792	CV3774963	single nucleotide variant	NM_000302.4(PLOD1):c.1914C>T (p.Asp638=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005120060]	likely benign	1	11972883	11972883	Human	1	name
597880672	CV3810302	single nucleotide variant	NM_000302.4(PLOD1):c.2133C>A (p.Leu711=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005149763]	likely benign	1	11974757	11974757	Human	1	name
597895467	CV3810402	single nucleotide variant	NM_000302.4(PLOD1):c.1188G>A (p.Leu396=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005151927]	likely benign	1	11963622	11963622	Human	1	name
597950803	CV3815221	single nucleotide variant	NM_000302.4(PLOD1):c.1995C>T (p.Asn665=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005161171]	likely benign	1	11972964	11972964	Human	1	name
597842334	CV3822066	single nucleotide variant	NM_000302.4(PLOD1):c.1797T>C (p.Ile599=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005172380]	likely benign	1	11970711	11970711	Human	1	name
597966668	CV3823848	single nucleotide variant	NM_000302.4(PLOD1):c.1569G>T (p.Val523=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005165268]	likely benign	1	11965578	11965578	Human	1	name
597895834	CV3853967	single nucleotide variant	NM_000302.4(PLOD1):c.2115G>C (p.Thr705=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005201250]	likely benign	1	11974739	11974739	Human	1	name
597934929	CV3863561	single nucleotide variant	NM_000302.4(PLOD1):c.205G>A (p.Gly69Arg)	not provided [RCV005207374]	uncertain significance	1	11949809	11949809	Human		name
616933659	CV4011618	single nucleotide variant	NM_000302.4(PLOD1):c.169G>A (p.Ala57Thr)	not specified [RCV005408166]	uncertain significance	1	11949773	11949773	Human		name
13436367	CV433840	single nucleotide variant	NM_000302.4(PLOD1):c.137G>A (p.Arg46His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001081382]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002383982]\|PLOD1-related disorder [RCV003935333]\|not provided [RCV000507063]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11948036	11948036	Human	2	name , alternate_id
13481645	CV447039	single nucleotide variant	NM_000302.4(PLOD1):c.1026C>T (p.Ser342=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000529057]	likely benign\|uncertain significance	1	11960696	11960696	Human	1	name
13497324	CV447060	single nucleotide variant	NM_000302.4(PLOD1):c.1707G>A (p.Leu569=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000538503]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404402]\|not provided [RCV001696941]\|not specified [RCV003330760]	likely benign	1	11967043	11967043	Human	2	name
13472848	CV447152	single nucleotide variant	NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000525113]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404400]\|not provided [RCV001577047]	uncertain significance	1	11966316	11966316	Human	2	name
13488039	CV447158	single nucleotide variant	NM_000302.4(PLOD1):c.1689G>A (p.Glu563=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000554602]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002404401]	likely benign\|uncertain significance	1	11967025	11967025	Human	2	name
13487990	CV447199	single nucleotide variant	NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000532117]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002448653]\|Keratoconus [RCV003324532]\|not provided [RCV001527341]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	11948008	11948008	Human	4	name
13467726	CV447205	single nucleotide variant	NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000544097]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314963]\|not provided [RCV000786194]\|not specified [RCV005407700]	uncertain significance	1	11948023	11948023	Human	2	name
13472580	CV447219	single nucleotide variant	NM_000302.4(PLOD1):c.1473T>C (p.Asp491=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001087777]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002395331]\|not provided [RCV000827558]	likely benign	1	11965482	11965482	Human	2	name
13496831	CV447220	single nucleotide variant	NM_000302.4(PLOD1):c.1530C>T (p.Ser510=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000538108]	likely benign	1	11965539	11965539	Human	1	name
13519163	CV485984	single nucleotide variant	NM_000302.4(PLOD1):c.1902G>A (p.Arg634=)	not provided [RCV000585430]	uncertain significance	1	11970816	11970816	Human		name
13541092	CV498030	single nucleotide variant	NM_000302.4(PLOD1):c.1461C>T (p.Ile487=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002065393]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002395595]\|not specified [RCV000615665]	likely benign	1	11964776	11964776	Human	2	name
13528689	CV498037	single nucleotide variant	NM_000302.4(PLOD1):c.1128C>T (p.Thr376=)	not specified [RCV000605532]	likely benign	1	11963562	11963562	Human		name
13535107	CV509080	single nucleotide variant	NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003767816]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315149]	pathogenic	1	11948065	11948065	Human	2	name
13528522	CV509081	single nucleotide variant	NM_000302.4(PLOD1):c.214G>T (p.Ala72Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002315150]	uncertain significance	1	11949818	11949818	Human	1	name
13534875	CV509092	single nucleotide variant	NM_000302.4(PLOD1):c.1083C>T (p.Ala361=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634761]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315164]	likely benign	1	11960753	11960753	Human	2	name
13529738	CV509093	single nucleotide variant	NM_000302.4(PLOD1):c.1110G>A (p.Arg370=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001449177]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315155]	likely benign	1	11963544	11963544	Human	2	name
13534084	CV509095	single nucleotide variant	NM_000302.4(PLOD1):c.1152C>T (p.Asp384=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001476428]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315168]\|not provided [RCV000907031]	likely benign	1	11963586	11963586	Human	2	name
13529704	CV509096	single nucleotide variant	NM_000302.4(PLOD1):c.1209C>T (p.Val403=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002531846]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315170]	likely benign	1	11964181	11964181	Human	2	name
13533149	CV509101	single nucleotide variant	NM_000302.4(PLOD1):c.1791G>C (p.Pro597=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001471078]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315159]	likely benign	1	11970705	11970705	Human	2	name
13527677	CV509105	single nucleotide variant	NM_000302.4(PLOD1):c.2175C>T (p.Val725=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001404153]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315154]\|not provided [RCV004711240]	likely benign	1	11974799	11974799	Human	2	name
13618104	CV515019	single nucleotide variant	NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634763]\|not specified [RCV004702221]	likely benign\|conflicting interpretations of pathogenicity	1	11965590	11965590	Human	1	name
13618114	CV515023	single nucleotide variant	NM_000302.4(PLOD1):c.1608C>T (p.His536=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634770]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002388027]	likely benign	1	11966274	11966274	Human	2	name
13618073	CV515084	single nucleotide variant	NM_000302.4(PLOD1):c.232G>T (p.Val78Phe)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634742]	uncertain significance	1	11949836	11949836	Human	1	name
13618118	CV515104	single nucleotide variant	NM_000302.4(PLOD1):c.1818C>T (p.Ile606=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634772]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002406357]	likely benign	1	11970732	11970732	Human	2	name
13704798	CV538940	single nucleotide variant	NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000662014]	uncertain significance	1	11949890	11949890	Human	1	name
13803639	CV556887	single nucleotide variant	NM_000302.4(PLOD1):c.1023C>T (p.Gly341=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000699348]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002369910]\|not provided [RCV000756554]	likely benign\|uncertain significance	1	11960693	11960693	Human	2	name
13813058	CV556889	single nucleotide variant	NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000704105]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002458301]\|not provided [RCV001759409]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	11960765	11960765	Human	2	name
14728252	CV626695	single nucleotide variant	NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000816433]	uncertain significance	1	11948014	11948014	Human	1	name
14707404	CV626696	single nucleotide variant	NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000808783]	uncertain significance	1	11949845	11949845	Human	1	name
14719432	CV655027	single nucleotide variant	NM_000302.4(PLOD1):c.1077A>G (p.Ala359=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003768583]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004029211]\|not provided [RCV000830774]	likely benign	1	11960747	11960747	Human	2	name
14714105	CV655028	single nucleotide variant	NM_000302.4(PLOD1):c.2001C>T (p.Ala667=)	not provided [RCV000828919]	likely benign	1	11972970	11972970	Human		name
15157184	CV745611	single nucleotide variant	NM_000302.4(PLOD1):c.1554C>T (p.Asn518=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001468035]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002390929]	likely benign	1	11965563	11965563	Human	2	name
15156315	CV745612	single nucleotide variant	NM_000302.4(PLOD1):c.1638G>A (p.Lys546=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514438]	likely benign	1	11966304	11966304	Human	1	name
15201668	CV761123	single nucleotide variant	NM_000302.4(PLOD1):c.1794T>G (p.Thr598=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001462231]	likely benign	1	11970708	11970708	Human	1	name
15108643	CV761124	single nucleotide variant	NM_000302.4(PLOD1):c.1863G>A (p.Ala621=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001398877]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005392565]	likely benign	1	11970777	11970777	Human	2	name
15182221	CV761126	single nucleotide variant	NM_000302.4(PLOD1):c.2013C>T (p.Val671=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002068673]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004029563]	likely benign	1	11972982	11972982	Human	2	name
15128011	CV780291	single nucleotide variant	NM_000302.4(PLOD1):c.1191C>A (p.Ile397=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001413184]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002337028]	likely benign	1	11963625	11963625	Human	2	name
21071255	CV794389	single nucleotide variant	NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001242271]\|not provided [RCV000993918]	uncertain significance	1	11948026	11948026	Human	1	name
38489244	CV921605	single nucleotide variant	NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001221632]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002418764]\|not provided [RCV001773498]	uncertain significance	1	11949813	11949813	Human	2	name
38459801	CV930000	single nucleotide variant	NM_000302.4(PLOD1):c.1659G>A (p.Pro553=)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001211709]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002402626]\|not provided [RCV004720793]	likely benign\|uncertain significance	1	11966995	11966995	Human	2	name
41406981	CV980432	single nucleotide variant	NM_000302.4(PLOD1):c.218G>T (p.Gly73Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001281023]	pathogenic\|uncertain significance	1	11949822	11949822	Human	1	name
126744811	CV986850	single nucleotide variant	NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001307954]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002411988]	uncertain significance	1	11949797	11949797	Human	2	name
126753839	CV986851	single nucleotide variant	NM_000302.4(PLOD1):c.262C>G (p.His88Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001307486]	uncertain significance	1	11949866	11949866	Human	1	name
126769398	CV1002079	single nucleotide variant	NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001321936]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002384418]	uncertain significance	1	11958642	11958642	Human	2	name
126745006	CV1022575	single nucleotide variant	NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001351351]\|not provided [RCV001762607]	uncertain significance	1	11957897	11957897	Human	1	name
126915379	CV1039393	single nucleotide variant	NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001370880]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002322352]	uncertain significance	1	11950385	11950385	Human	2	name
126915112	CV1039394	single nucleotide variant	NM_000302.4(PLOD1):c.535G>C (p.Asp179His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001359798]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002350674]\|not provided [RCV001664850]\|not specified [RCV004699334]	uncertain significance	1	11952691	11952691	Human	2	name
126920426	CV1039395	single nucleotide variant	NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001362869]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002395808]	uncertain significance	1	11957864	11957864	Human	2	name
126921602	CV1039396	single nucleotide variant	NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001363684]	uncertain significance	1	11957903	11957903	Human	1	name
126911400	CV1039397	single nucleotide variant	NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001369197]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377546]	uncertain significance	1	11958600	11958600	Human	2	name
127235302	CV1058392	single nucleotide variant	NM_000302.4(PLOD1):c.367C>T (p.Gln123Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001382370]	pathogenic	1	11950421	11950421	Human	1	name
150514767	CV1212125	deletion	NM_000302.4(PLOD1):c.1097+333_1097+334del	not provided [RCV001599194]	benign	1	11961092	11961093	Human		name
150488330	CV1265230	duplication	NM_000302.4(PLOD1):c.1202+143_1202+154dup	not provided [RCV001687266]	benign	1	11963771	11963772	Human		name
151873047	CV1359447	single nucleotide variant	NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002019194]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003170485]	uncertain significance	1	11950417	11950417	Human	2	name
151844251	CV1363414	single nucleotide variant	NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002032193]	uncertain significance	1	11958544	11958544	Human	1	name
151872561	CV1366905	deletion	NM_000302.4(PLOD1):c.1646del (p.Glu549fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001960636]	pathogenic	1	11966312	11966312	Human	1	name
151785211	CV1369300	single nucleotide variant	NM_000302.4(PLOD1):c.874G>C (p.Val292Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002046533]	uncertain significance	1	11958546	11958546	Human	1	name
151742700	CV1390923	single nucleotide variant	NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001985393]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003303481]	uncertain significance	1	11958591	11958591	Human	2	name
151879238	CV1395551	single nucleotide variant	NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001999318]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002386869]	uncertain significance	1	11958643	11958643	Human	2	name
151722196	CV1406610	single nucleotide variant	NM_000302.4(PLOD1):c.951C>G (p.His317Gln)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002003833]	uncertain significance	1	11958623	11958623	Human	1	name
151765488	CV1407798	single nucleotide variant	NM_000302.4(PLOD1):c.683C>T (p.Ala228Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002044735]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822939]	likely benign\|uncertain significance	1	11956956	11956956	Human	2	name
151864304	CV1416476	single nucleotide variant	NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001997542]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002352644]\|not provided [RCV003481214]	uncertain significance	1	11954857	11954857	Human	2	name
151731099	CV1425755	single nucleotide variant	NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002004784]	uncertain significance	1	11952710	11952710	Human	1	name
151744813	CV1460705	single nucleotide variant	NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001871393]	uncertain significance	1	11950430	11950430	Human	1	name
151841145	CV1464252	single nucleotide variant	NM_000302.4(PLOD1):c.723T>G (p.His241Gln)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001936130]	uncertain significance	1	11956996	11956996	Human	1	name
151742160	CV1478128	single nucleotide variant	NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002005912]	uncertain significance	1	11958582	11958582	Human	1	name
151873345	CV1488022	single nucleotide variant	NM_000302.4(PLOD1):c.373G>A (p.Val125Ile)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001981588]	uncertain significance	1	11950427	11950427	Human	1	name
151667794	CV1495021	single nucleotide variant	NM_000302.4(PLOD1):c.757C>G (p.Leu253Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002001495]	uncertain significance	1	11957857	11957857	Human	1	name
153303444	CV1686255	duplication	NM_000302.4(PLOD1):c.1962dup (p.Pro655fs)	not provided [RCV002261688]	uncertain significance	1	11972930	11972931	Human		name
153347433	CV1694644	deletion	NM_000302.4(PLOD1):c.1362del (p.Tyr455fs)	Ehlers-Danlos syndrome [RCV002278046]	pathogenic	1	11964677	11964677	Human	1	name
153347439	CV1694648	single nucleotide variant	NM_000302.4(PLOD1):c.355C>A (p.Gln119Lys)	Ehlers-Danlos syndrome [RCV002278050]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002454607]\|not specified [RCV004770439]	uncertain significance	1	11950409	11950409	Human	2	name
155663988	CV1785882	single nucleotide variant	NM_000302.4(PLOD1):c.338T>C (p.Leu113Pro)	Familial thoracic aortic aneurysm and aortic dissection [RCV002451903]	uncertain significance	1	11950392	11950392	Human	1	name
155701684	CV1791322	single nucleotide variant	NM_000302.4(PLOD1):c.439G>A (p.Asp147Asn)	Familial thoracic aortic aneurysm and aortic dissection [RCV002333708]	uncertain significance	1	11950493	11950493	Human	1	name
155744574	CV1793202	single nucleotide variant	NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003094278]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002346640]	uncertain significance	1	11950418	11950418	Human	2	name
155695119	CV1797049	single nucleotide variant	NM_000302.4(PLOD1):c.395T>C (p.Ile132Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002357678]	uncertain significance	1	11950449	11950449	Human	1	name
155680607	CV1812678	single nucleotide variant	NM_000302.4(PLOD1):c.722A>G (p.His241Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV002370991]	uncertain significance	1	11956995	11956995	Human	1	name
155742764	CV1816977	single nucleotide variant	NM_000302.4(PLOD1):c.823C>T (p.Arg275Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV002412535]\|not provided [RCV004797997]	uncertain significance	1	11957923	11957923	Human	1	name
155711326	CV1817829	single nucleotide variant	NM_000302.4(PLOD1):c.911T>A (p.Phe304Tyr)	Familial thoracic aortic aneurysm and aortic dissection [RCV002378708]	uncertain significance	1	11958583	11958583	Human	1	name
155669677	CV1822126	single nucleotide variant	NM_000302.4(PLOD1):c.670G>A (p.Gly224Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV002367199]	uncertain significance	1	11956943	11956943	Human	1	name
155716683	CV1822768	single nucleotide variant	NM_000302.4(PLOD1):c.730G>A (p.Gly244Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV002380047]	uncertain significance	1	11957003	11957003	Human	1	name
156123711	CV1933681	single nucleotide variant	NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002640427]	uncertain significance	1	11950386	11950386	Human	1	name
156434110	CV1946828	duplication	NM_000302.4(PLOD1):c.1261dup (p.Ala421fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003104293]\|not provided [RCV005052027]	pathogenic\|likely pathogenic	1	11964227	11964228	Human	1	name
156446640	CV1947985	single nucleotide variant	NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003118151]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004654171]	uncertain significance	1	11952680	11952680	Human	2	name
155975202	CV2062712	single nucleotide variant	NM_000302.4(PLOD1):c.949C>G (p.His317Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002842255]	uncertain significance	1	11958621	11958621	Human	1	name
156013447	CV2072005	single nucleotide variant	NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002844002]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003308305]	uncertain significance	1	11954863	11954863	Human	2	name
156050839	CV2091425	single nucleotide variant	NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002886156]	uncertain significance	1	11952635	11952635	Human	1	name
156133564	CV2118858	single nucleotide variant	NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002953968]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004068135]\|not provided [RCV004763489]	uncertain significance	1	11950482	11950482	Human	2	name
156171811	CV2133594	single nucleotide variant	NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003005411]	uncertain significance	1	11952695	11952695	Human	1	name
156159285	CV2314600	single nucleotide variant	NM_000302.4(PLOD1):c.914T>C (p.Phe305Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV004168683]	uncertain significance	1	11958586	11958586	Human	1	name
156174907	CV2327019	single nucleotide variant	NM_000302.4(PLOD1):c.533G>A (p.Ser178Asn)	Familial thoracic aortic aneurysm and aortic dissection [RCV004178609]	uncertain significance	1	11952689	11952689	Human	1	name
329384632	CV2426202	single nucleotide variant	NM_000302.4(PLOD1):c.668T>C (p.Met223Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV003176794]\|not provided [RCV004721159]	uncertain significance	1	11956941	11956941	Human	1	name
329384635	CV2426205	deletion	NM_000302.4(PLOD1):c.1790del (p.Pro597fs)	Familial thoracic aortic aneurysm and aortic dissection [RCV003176797]	pathogenic	1	11970703	11970703	Human	1	name
329384639	CV2426209	single nucleotide variant	NM_000302.4(PLOD1):c.449G>C (p.Arg150Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV003176801]	uncertain significance	1	11950503	11950503	Human	1	name
329391392	CV2452300	single nucleotide variant	NM_000302.4(PLOD1):c.361A>G (p.Arg121Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004278978]	uncertain significance	1	11950415	11950415	Human	1	name
329384041	CV2472632	single nucleotide variant	NM_000302.4(PLOD1):c.944A>G (p.Gln315Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV003214004]\|not specified [RCV005419602]	likely benign\|uncertain significance	1	11958616	11958616	Human	1	name
11550590	CV249372	single nucleotide variant	NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000367260]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313974]\|not provided [RCV004714566]\|not specified [RCV000251957]	benign\|likely benign	1	11950412	11950412	Human	2	name
11548467	CV257913	single nucleotide variant	NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)	Ehlers-Danlos syndrome [RCV002278237]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000999754]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002310932]\|not provided [RCV000488399]\|not specified [RCV003479085]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11952711	11952711	Human	3	name
401749622	CV2694689	single nucleotide variant	NM_000302.4(PLOD1):c.980A>G (p.Gln327Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV004298789]	uncertain significance	1	11960650	11960650	Human	1	name
401783918	CV2720858	single nucleotide variant	NM_000302.4(PLOD1):c.956G>A (p.Arg319Gln)	Familial thoracic aortic aneurysm and aortic dissection [RCV003310065]	uncertain significance	1	11958628	11958628	Human	1	name
401756576	CV2734154	single nucleotide variant	NM_000302.4(PLOD1):c.821T>C (p.Leu274Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV003297355]	uncertain significance	1	11957921	11957921	Human	1	name
401797341	CV2742162	single nucleotide variant	NM_000302.4(PLOD1):c.557T>C (p.Ile186Thr)	not specified [RCV003324340]	uncertain significance	1	11952713	11952713	Human		name
11661051	CV276157	single nucleotide variant	NM_000302.4(PLOD1):c.556A>G (p.Ile186Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000372947]	uncertain significance	1	11952712	11952712	Human	1	name
11577585	CV276426	single nucleotide variant	NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000263065]\|not provided [RCV001091322]	uncertain significance	1	11952631	11952631	Human	1	name
11581625	CV276817	single nucleotide variant	NM_000302.4(PLOD1):c.614G>A (p.Arg205His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000377885]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356402]\|not provided [RCV000522057]	uncertain significance	1	11954864	11954864	Human	2	name
401878201	CV2790776	single nucleotide variant	NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003514635]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003384144]	uncertain significance	1	11950445	11950445	Human	2	name
401878208	CV2790782	single nucleotide variant	NM_000302.4(PLOD1):c.790G>A (p.Glu264Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV003384150]	uncertain significance	1	11957890	11957890	Human	1	name
401911545	CV2800336	deletion	NM_000302.4(PLOD1):c.1293del (p.Glu432fs)	PLOD1-related disorder [RCV003399575]	likely pathogenic	1	11964264	11964264	Human		name , trait , alternate_id
401905764	CV2831494	single nucleotide variant	NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003444486]	uncertain significance	1	11956977	11956977	Human	1	name
8599790	CV29403	single nucleotide variant	NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)	Ehlers-Danlos syndrome [RCV004798730]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000015438]\|not provided [RCV000760317]	pathogenic	1	11958627	11958627	Human	2	name
402522470	CV2969154	single nucleotide variant	NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630317]	uncertain significance	1	11952631	11952631	Human	1	name
405046004	CV3011176	duplication	NM_000302.4(PLOD1):c.1811dup (p.Asn604fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630779]	pathogenic	1	11970723	11970724	Human	1	name
402506315	CV3042706	single nucleotide variant	NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003628843]	pathogenic	1	11957856	11957856	Human	1	name
405043372	CV3081383	single nucleotide variant	NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003630588]	uncertain significance	1	11957009	11957009	Human	1	name
405793339	CV3365797	single nucleotide variant	NM_000302.4(PLOD1):c.956G>T (p.Arg319Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004506674]	uncertain significance	1	11958628	11958628	Human	1	name
405731638	CV3391756	single nucleotide variant	NM_000302.4(PLOD1):c.409A>G (p.Arg137Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525205]	uncertain significance	1	11950463	11950463	Human	1	name
405731647	CV3391757	single nucleotide variant	NM_000302.4(PLOD1):c.461C>T (p.Ser154Phe)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525206]	uncertain significance	1	11950515	11950515	Human	1	name
405731653	CV3391758	single nucleotide variant	NM_000302.4(PLOD1):c.482C>G (p.Ala161Gly)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525207]	uncertain significance	1	11952638	11952638	Human	1	name
405731677	CV3391761	single nucleotide variant	NM_000302.4(PLOD1):c.731G>A (p.Gly244Glu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525210]	uncertain significance	1	11957004	11957004	Human	1	name
405731685	CV3391762	single nucleotide variant	NM_000302.4(PLOD1):c.934C>T (p.His312Tyr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525211]	uncertain significance	1	11958606	11958606	Human	1	name
405731695	CV3391763	single nucleotide variant	NM_000302.4(PLOD1):c.996G>C (p.Gln332His)	Familial thoracic aortic aneurysm and aortic dissection [RCV004525212]	uncertain significance	1	11960666	11960666	Human	1	name
407471255	CV3467420	single nucleotide variant	NM_000302.4(PLOD1):c.706C>A (p.Leu236Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV004662230]	uncertain significance	1	11956979	11956979	Human	1	name
596922085	CV3529614	duplication	NM_000302.4(PLOD1):c.1677dup (p.Ile560fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV004776490]	likely pathogenic	1	11967009	11967010	Human	1	name
597629031	CV3573034	single nucleotide variant	NM_000302.4(PLOD1):c.450G>T (p.Arg150Ser)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821556]	uncertain significance	1	11950504	11950504	Human	1	name
597628991	CV3573051	single nucleotide variant	NM_000302.4(PLOD1):c.353G>C (p.Arg118Pro)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821570]\|not specified [RCV005061520]	uncertain significance	1	11950407	11950407	Human	1	name
597628808	CV3573063	single nucleotide variant	NM_000302.4(PLOD1):c.952A>T (p.Met318Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821580]	uncertain significance	1	11958624	11958624	Human	1	name
597628819	CV3573067	single nucleotide variant	NM_000302.4(PLOD1):c.700G>C (p.Asp234His)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821584]	uncertain significance	1	11956973	11956973	Human	1	name
597628829	CV3573072	single nucleotide variant	NM_000302.4(PLOD1):c.637G>A (p.Ala213Thr)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821588]	uncertain significance	1	11954887	11954887	Human	1	name
597628837	CV3573076	single nucleotide variant	NM_000302.4(PLOD1):c.846T>A (p.Asp282Glu)	Familial thoracic aortic aneurysm and aortic dissection [RCV004821591]	uncertain significance	1	11958518	11958518	Human	1	name
597693481	CV3709123	deletion	NM_000302.4(PLOD1):c.1581del (p.Glu528fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005007603]	likely pathogenic	1	11965587	11965587	Human	1	name
597767746	CV3712042	single nucleotide variant	NM_000302.4(PLOD1):c.415G>T (p.Glu139Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005019942]	likely pathogenic	1	11950469	11950469	Human	1	name
597768154	CV3712165	deletion	NM_000302.4(PLOD1):c.1037del (p.Ser346fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005020020]	likely pathogenic	1	11960707	11960707	Human	1	name
597743752	CV3712259	deletion	NM_000302.4(PLOD1):c.1262del (p.Ala421fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005014231]	likely pathogenic	1	11964234	11964234	Human	1	name
597872309	CV3768505	duplication	NM_000302.4(PLOD1):c.1602dup (p.Ile535fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005122884]	pathogenic	1	11966267	11966268	Human	1	name
597869888	CV3771952	duplication	NM_000302.4(PLOD1):c.1564dup (p.Glu522fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005122462]	pathogenic	1	11965570	11965571	Human	1	name
597940026	CV3785260	single nucleotide variant	NM_000302.4(PLOD1):c.950A>G (p.His317Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005133365]	uncertain significance	1	11958622	11958622	Human	1	name
598160317	CV3897253	single nucleotide variant	NM_000302.4(PLOD1):c.406C>T (p.Arg136Cys)	Familial thoracic aortic aneurysm and aortic dissection [RCV005393024]\|not provided [RCV005368227]	uncertain significance	1	11950460	11950460	Human	1	name
598175141	CV4006928	single nucleotide variant	NM_000302.4(PLOD1):c.986A>G (p.His329Arg)	Familial thoracic aortic aneurysm and aortic dissection [RCV005393442]	uncertain significance	1	11960656	11960656	Human	1	name
598175152	CV4006930	single nucleotide variant	NM_000302.4(PLOD1):c.829C>A (p.Leu277Ile)	Familial thoracic aortic aneurysm and aortic dissection [RCV005393444]	uncertain significance	1	11957929	11957929	Human	1	name
598175177	CV4006936	single nucleotide variant	NM_000302.4(PLOD1):c.453C>G (p.Phe151Leu)	Familial thoracic aortic aneurysm and aortic dissection [RCV005393450]	uncertain significance	1	11950507	11950507	Human	1	name
598175180	CV4006937	single nucleotide variant	NM_000302.4(PLOD1):c.578G>A (p.Arg193Lys)	Familial thoracic aortic aneurysm and aortic dissection [RCV005393451]	uncertain significance	1	11952734	11952734	Human	1	name
598210408	CV4008010	single nucleotide variant	NM_000302.4(PLOD1):c.582G>C (p.Glu194Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV005400324]	uncertain significance	1	11954832	11954832	Human	1	name
13211766	CV425304	single nucleotide variant	NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000526172]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314855]\|not provided [RCV000497885]	uncertain significance	1	11950361	11950361	Human	2	name
13435841	CV433837	single nucleotide variant	NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)	Ehlers-Danlos syndrome [RCV002279292]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000529981]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314888]\|not provided [RCV001672820]\|not specified [RCV003323576]	benign\|likely benign\|uncertain significance	1	11952720	11952720	Human	3	name
13437024	CV433841	single nucleotide variant	NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000999856]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314890]\|not provided [RCV001706653]	benign	1	11957902	11957902	Human	2	name
13486027	CV442593	single nucleotide variant	NM_000302.4(PLOD1):c.583C>T (p.Gln195Ter)	not provided [RCV000522777]	pathogenic	1	11954833	11954833	Human		name
13472238	CV447022	single nucleotide variant	NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000524820]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314966]	likely benign\|uncertain significance	1	11952691	11952691	Human	2	name
13475434	CV447036	single nucleotide variant	NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000548704]	uncertain significance	1	11958543	11958543	Human	1	name
13478403	CV447128	single nucleotide variant	NM_000302.4(PLOD1):c.824G>A (p.Arg275His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000550046]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002431566]	uncertain significance	1	11957924	11957924	Human	2	name
13533307	CV509082	single nucleotide variant	NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001803898]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315163]\|not provided [RCV001771835]	uncertain significance	1	11950377	11950377	Human	2	name
13592809	CV509084	single nucleotide variant	NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001855285]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315162]	uncertain significance	1	11950407	11950407	Human	2	name
13534149	CV509088	single nucleotide variant	NM_000302.4(PLOD1):c.652G>A (p.Val218Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001281022]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002315165]\|not provided [RCV004568335]	uncertain significance	1	11956925	11956925	Human	2	name
13618083	CV514999	single nucleotide variant	NM_000302.4(PLOD1):c.712G>T (p.Val238Phe)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634748]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003162833]	uncertain significance	1	11956985	11956985	Human	2	name
13618081	CV515001	single nucleotide variant	NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634747]	uncertain significance	1	11952637	11952637	Human	1	name
13618079	CV515004	single nucleotide variant	NM_000302.4(PLOD1):c.893C>T (p.Thr298Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634746]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002377372]	uncertain significance	1	11958565	11958565	Human	2	name
13618091	CV515011	single nucleotide variant	NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634753]	uncertain significance	1	11958637	11958637	Human	1	name
13618084	CV515066	single nucleotide variant	NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634749]	uncertain significance	1	11950368	11950368	Human	1	name
13618093	CV515068	single nucleotide variant	NM_000302.4(PLOD1):c.608G>A (p.Arg203His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634754]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002358782]	likely benign\|uncertain significance	1	11954858	11954858	Human	2	name
13618116	CV515093	single nucleotide variant	NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV002060727]\|not specified [RCV003323651]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11958577	11958577	Human	1	name
13705598	CV536561	single nucleotide variant	NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001244773]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002352070]\|not provided [RCV000658160]	uncertain significance	1	11956921	11956921	Human	2	name
13794639	CV552030	single nucleotide variant	NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000680071]\|not provided [RCV003233809]	pathogenic	1	11960649	11960649	Human	1	name
13794638	CV552031	deletion	NM_000302.4(PLOD1):c.1795del (p.Ile599fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000680070]	pathogenic	1	11970709	11970709	Human	1	name
13811949	CV556566	single nucleotide variant	NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000703379]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822184]	uncertain significance	1	11958619	11958619	Human	2	name
13817714	CV556599	single nucleotide variant	NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000693214]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002343471]\|not provided [RCV004588120]	uncertain significance	1	11952725	11952725	Human	2	name
13811084	CV556601	single nucleotide variant	NM_000302.4(PLOD1):c.949C>A (p.His317Asn)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000688559]\|Familial thoracic aortic aneurysm and aortic dissection [RCV005392286]	uncertain significance	1	11958621	11958621	Human	2	name
13801886	CV556882	single nucleotide variant	NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000698037]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004026424]\|not specified [RCV005407898]	uncertain significance	1	11950430	11950430	Human	2	name
13818194	CV556883	single nucleotide variant	NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000707543]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002442542]	uncertain significance	1	11958532	11958532	Human	2	name
13811778	CV556885	single nucleotide variant	NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000703263]\|not provided [RCV004797861]	uncertain significance	1	11958603	11958603	Human	1	name
14394351	CV609343	single nucleotide variant	NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001855897]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002397525]\|not provided [RCV000757673]	uncertain significance	1	11957873	11957873	Human	2	name
14399307	CV614549	single nucleotide variant	NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)	Ehlers-Danlos syndrome [RCV000768414]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001070912]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822190]	uncertain significance	1	11957875	11957875	Human	3	name
14692931	CV619946	single nucleotide variant	NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000778180]	uncertain significance	1	11954872	11954872	Human		name
14692932	CV619947	deletion	NM_000302.4(PLOD1):c.1930del (p.Arg644fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000778181]	uncertain significance	1	11972898	11972898	Human		name
14695855	CV622298	single nucleotide variant	NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000785051]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004027334]\|PLOD1-related disorder [RCV004745586]\|not provided [RCV001731924]\|not specified [RCV005407957]	uncertain significance	1	11954863	11954863	Human	2	name , alternate_id
14722705	CV626698	single nucleotide variant	NM_000302.4(PLOD1):c.407G>A (p.Arg136His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000814036]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003279095]\|not specified [RCV004689895]	uncertain significance	1	11950461	11950461	Human	2	name
14725366	CV626699	single nucleotide variant	NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000798780]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004822207]\|not provided [RCV001724156]	likely benign\|uncertain significance	1	11952664	11952664	Human	2	name
14744523	CV626700	single nucleotide variant	NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000824168]	uncertain significance	1	11952682	11952682	Human	1	name
14702463	CV626701	single nucleotide variant	NM_000302.4(PLOD1):c.674A>G (p.His225Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000806970]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002360986]	likely benign\|uncertain significance	1	11956947	11956947	Human	2	name
14732295	CV626702	single nucleotide variant	NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000801788]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002360952]	likely benign\|uncertain significance	1	11956975	11956975	Human	2	name
14706047	CV626703	single nucleotide variant	NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000808322]\|Familial thoracic aortic aneurysm and aortic dissection [RCV004649336]	uncertain significance	1	11957914	11957914	Human	2	name
14733340	CV626704	single nucleotide variant	NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000802254]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002440683]\|not provided [RCV004691303]\|not specified [RCV005407972]	likely benign\|uncertain significance	1	11957939	11957939	Human	2	name
14723706	CV626705	single nucleotide variant	NM_000302.4(PLOD1):c.874G>A (p.Val292Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000798074]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002370097]	likely benign\|uncertain significance	1	11958546	11958546	Human	2	name
21070294	CV789827	duplication	NM_000302.4(PLOD1):c.1479dup (p.Met494fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000986239]	pathogenic	1	11965487	11965488	Human	1	name
21071259	CV794390	single nucleotide variant	NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg)	not provided [RCV000993919]\|not specified [RCV003489998]	uncertain significance	1	11957013	11957013	Human		name
21406223	CV799105	single nucleotide variant	NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001002279]	uncertain significance	1	11956950	11956950	Human	1	name
26900783	CV822603	single nucleotide variant	NM_000302.4(PLOD1):c.369G>C (p.Gln123His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001068069]	uncertain significance	1	11950423	11950423	Human	1	name
26897467	CV822604	single nucleotide variant	NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001065782]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003307909]	uncertain significance	1	11950464	11950464	Human	2	name
26916866	CV822605	single nucleotide variant	NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001041012]	uncertain significance	1	11952719	11952719	Human	1	name
26922252	CV822606	single nucleotide variant	NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001051804]	uncertain significance	1	11954875	11954875	Human	1	name
26903567	CV822607	single nucleotide variant	NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001069824]	uncertain significance	1	11956977	11956977	Human	1	name
26919610	CV822610	deletion	NM_000302.4(PLOD1):c.1772del (p.Gly591fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001045967]	pathogenic	1	11970684	11970684	Human	1	name
28882789	CV858833	single nucleotide variant	NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001862692]\|not provided [RCV001091323]	uncertain significance	1	11952725	11952725	Human	1	name
28882631	CV862097	single nucleotide variant	NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001097232]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002339397]\|not provided [RCV004691350]	uncertain significance	1	11952628	11952628	Human	2	name
28888107	CV862098	single nucleotide variant	NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001098987]	uncertain significance	1	11958613	11958613	Human	1	name
38493724	CV921606	single nucleotide variant	NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001224470]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002356954]	uncertain significance	1	11954840	11954840	Human	2	name
38470188	CV929997	single nucleotide variant	NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001202528]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002348656]	uncertain significance	1	11952691	11952691	Human	2	name
38472035	CV929998	single nucleotide variant	NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001203010]	uncertain significance	1	11957932	11957932	Human	1	name
38456856	CV941399	single nucleotide variant	NM_000302.4(PLOD1):c.310G>A (p.Val104Met)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001228488]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002322101]	uncertain significance	1	11950364	11950364	Human	2	name
38486996	CV941406	deletion	NM_000302.4(PLOD1):c.2164del (p.Val722fs)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001237390]	uncertain significance	1	11974788	11974788	Human	1	name
38468712	CV952035	single nucleotide variant	NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001248085]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002447227]	uncertain significance	1	11958528	11958528	Human	2	name
126746669	CV986852	single nucleotide variant	NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV001306133]\|Familial thoracic aortic aneurysm and aortic dissection [RCV003294241]	uncertain significance	1	11958568	11958568	Human	2	name
11582321	CV276162	single nucleotide variant	NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000407730]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314036]\|PLOD1-related disorder [RCV004745326]\|not provided [RCV000412902]\|not specified [RCV005404480]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11963606	11963606	Human	2	alternate_id
11581742	CV276431	single nucleotide variant	NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000382781]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314038]\|PLOD1-related disorder [RCV003957530]\|not provided [RCV000839243]\|not specified [RCV003987497]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	11965504	11965504	Human	2	alternate_id
8599793	CV29409	single nucleotide variant	NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)	Ehlers-Danlos syndrome [RCV002276550]\|Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000015447]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002313712]\|PLOD1-related disorder [RCV003904842]\|not provided [RCV000255839]	pathogenic	1	11965542	11965542	Human	3	alternate_id
13503579	CV447028	single nucleotide variant	NM_000302.4(PLOD1):c.776G>A (p.Arg259His)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000543370]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002314967]\|PLOD1-related disorder [RCV003962484]\|not provided [RCV001576696]	likely benign\|uncertain significance	1	11957876	11957876	Human	2	alternate_id
13618089	CV515010	single nucleotide variant	NM_000302.4(PLOD1):c.1511A>G (p.His504Arg)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000634752]\|Familial thoracic aortic aneurysm and aortic dissection [RCV002388026]\|PLOD1-related disorder [RCV003403458]	uncertain significance	1	11965520	11965520	Human	2	alternate_id
402486857	CV3181849	insertion	NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV003876518]	likely benign	1	11949912	11949913	Human	1	name
13495363	CV447045	indel	NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT	Ehlers-Danlos syndrome, kyphoscoliotic type 1 [RCV000537084]\|not provided [RCV003222020]\|not specified [RCV000605810]	likely benign\|uncertain significance	1	11965471	11965472	Human		name

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