Col9a1 Variant Search Result - Rat Genome Database

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1001 records found for search term Col9a1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11650233	CV300943	single nucleotide variant	NM_001851.5(COL9A1):c.*33C>A	Multiple Epiphyseal Dysplasia, Dominant [RCV000291905]\|Stickler Syndrome, Recessive [RCV000381611]	uncertain significance	6	70216864	70216864	Human		name
11648628	CV300961	single nucleotide variant	NM_001851.5(COL9A1):c.-79G>T	Multiple Epiphyseal Dysplasia, Dominant [RCV000374786]\|Stickler Syndrome, Recessive [RCV000282684]	uncertain significance	6	70303003	70303003	Human		name
11647928	CV303899	single nucleotide variant	NM_001851.5(COL9A1):c.-74T>C	Multiple Epiphyseal Dysplasia, Dominant [RCV000336394]\|Stickler Syndrome, Recessive [RCV000279030]	uncertain significance	6	70302998	70302998	Human		name
12834244	CV369031	single nucleotide variant	NM_001851.6(COL9A1):c.-50A>G	not provided [RCV004705578]\|not specified [RCV000420035]	likely benign	6	70302974	70302974	Human		name
150416990	CV1180209	deletion	NM_001851.6(COL9A1):c.*242del	not provided [RCV001549918]	likely benign	6	70216655	70216655	Human		name
151842060	CV1363056	single nucleotide variant	NM_001851.6(COL9A1):c.88+1G>A	not provided [RCV002015455]	likely pathogenic	6	70302000	70302000	Human		name
152142509	CV1526685	single nucleotide variant	NM_001851.6(COL9A1):c.14+7C>T	not provided [RCV002084350]	likely benign	6	70302904	70302904	Human		name
152085358	CV1620983	single nucleotide variant	NM_001851.6(COL9A1):c.14+9A>C	not provided [RCV002193562]	likely benign	6	70302902	70302902	Human		name
152130085	CV1630897	single nucleotide variant	NM_001851.6(COL9A1):c.14+3A>G	not provided [RCV002118971]	likely benign	6	70302908	70302908	Human		name
405032198	CV2922568	single nucleotide variant	NM_001851.6(COL9A1):c.14+1G>C	not provided [RCV003578444]	likely pathogenic	6	70302910	70302910	Human		name
405168912	CV2951089	single nucleotide variant	NM_001851.6(COL9A1):c.15-2A>T	not provided [RCV003675257]	likely pathogenic	6	70302076	70302076	Human		name
11644469	CV300941	duplication	NM_001851.6(COL9A1):c.*247dup	Multiple Epiphyseal Dysplasia, Dominant [RCV000260344]\|Stickler Syndrome, Recessive [RCV000301476]	uncertain significance	6	70216649	70216650	Human	2	name
11586187	CV300962	single nucleotide variant	NM_001851.5(COL9A1):c.-150T>C	Multiple Epiphyseal Dysplasia, Dominant [RCV000343509]\|Stickler Syndrome, Recessive [RCV000286255]	uncertain significance	6	70303074	70303074	Human		name
11592555	CV303902	single nucleotide variant	NM_001851.6(COL9A1):c.-107A>G	not provided [RCV001668874]	benign\|likely benign	6	70303031	70303031	Human		name
11604953	CV308545	single nucleotide variant	NM_001851.6(COL9A1):c.*266T>C	not provided [RCV001684465]	benign	6	70216631	70216631	Human		name
11599479	CV308567	duplication	NM_001851.6(COL9A1):c.*242dup	Multiple Epiphyseal Dysplasia, Dominant [RCV000265754]\|Stickler Syndrome, Recessive [RCV000355827]\|not provided [RCV001613187]	benign	6	70216654	70216655	Human	2	name
11605553	CV308571	single nucleotide variant	NM_001851.6(COL9A1):c.*229T>C	not provided [RCV001616756]	benign\|likely benign	6	70216668	70216668	Human		name
11599658	CV308577	single nucleotide variant	NM_001851.6(COL9A1):c.*174T>C	Multiple Epiphyseal Dysplasia, Dominant [RCV000327001]\|Stickler Syndrome, Recessive [RCV000267282]	uncertain significance	6	70216723	70216723	Human	2	name
408383518	CV3503935	single nucleotide variant	NM_001851.6(COL9A1):c.88+5G>A	COL9A1-related disorder [RCV004730624]	uncertain significance	6	70301996	70301996	Human		name , trait , alternate_id
597959386	CV3797552	single nucleotide variant	NM_001851.6(COL9A1):c.15-5T>C	not provided [RCV005138239]	likely benign	6	70302079	70302079	Human		name
13523211	CV488877	single nucleotide variant	NM_001851.6(COL9A1):c.88+7G>C	not provided [RCV000592713]	conflicting interpretations of pathogenicity\|uncertain significance	6	70301994	70301994	Human		name
14712627	CV662245	single nucleotide variant	NM_001851.4(COL9A1):c.-364C>G	not provided [RCV000828478]	benign	6	70303288	70303288	Human	1	name
14712627	CV662245	single nucleotide variant	NM_001851.4(COL9A1):c.-364C>G	not provided [RCV000828478]	benign	6	70303288	70303289	Human	1	name
14744374	CV662293	single nucleotide variant	NM_001851.6(COL9A1):c.15-3C>T	COL9A1-related disorder [RCV003983218]\|not provided [RCV000842720]	likely benign\|conflicting interpretations of pathogenicity	6	70302077	70302077	Human	1	name , alternate_id
127276371	CV1073941	single nucleotide variant	NM_001851.6(COL9A1):c.780+9C>G	not provided [RCV001407140]	likely benign	6	70283728	70283728	Human		name
127280487	CV1073946	single nucleotide variant	NM_001851.6(COL9A1):c.88+19A>C	Epiphyseal dysplasia, multiple, 6 [RCV002504683]\|not provided [RCV001409801]\|not specified [RCV003388011]	likely benign	6	70301982	70301982	Human	1	name
127302249	CV1117067	single nucleotide variant	NM_001851.6(COL9A1):c.801+9G>C	not provided [RCV001461577]	likely benign	6	70282889	70282889	Human		name
150418141	CV1193819	single nucleotide variant	NM_001851.6(COL9A1):c.15-53T>C	not provided [RCV001569081]	likely benign	6	70302127	70302127	Human		name
150418015	CV1197568	single nucleotide variant	NM_001851.6(COL9A1):c.802-4C>T	not provided [RCV001576556]	likely benign	6	70281468	70281468	Human		name
150470281	CV1209289	single nucleotide variant	NM_001851.6(COL9A1):c.167-4A>G	not provided [RCV001588400]	likely benign	6	70300179	70300179	Human		name
150499891	CV1283084	single nucleotide variant	NM_001851.6(COL9A1):c.15-54G>A	not provided [RCV001718281]	benign	6	70302128	70302128	Human		name
151233479	CV1317094	single nucleotide variant	NM_001851.6(COL9A1):c.976-3T>G	not provided [RCV001786915]	uncertain significance	6	70274775	70274775	Human		name
151818714	CV1390619	single nucleotide variant	NM_001851.6(COL9A1):c.975+8G>A	not provided [RCV001954543]	uncertain significance	6	70280804	70280804	Human		name
152065165	CV1539704	single nucleotide variant	NM_001851.6(COL9A1):c.976-5A>G	not provided [RCV002147316]	likely benign	6	70274777	70274777	Human		name
152031367	CV1546524	single nucleotide variant	NM_001851.6(COL9A1):c.89-13A>G	not provided [RCV002124536]	likely benign	6	70300399	70300399	Human		name
152126267	CV1548910	deletion	NM_001851.6(COL9A1):c.15-13del	not provided [RCV002082260]	likely benign	6	70302087	70302087	Human		name
152126279	CV1548911	single nucleotide variant	NM_001851.6(COL9A1):c.15-15T>C	not provided [RCV002082261]	likely benign	6	70302089	70302089	Human		name
152129307	CV1550667	single nucleotide variant	NM_001851.6(COL9A1):c.781-6C>T	not provided [RCV002155311]	likely benign	6	70282924	70282924	Human		name
152114228	CV1559353	single nucleotide variant	NM_001851.6(COL9A1):c.300-8T>G	not provided [RCV002174714]	likely benign	6	70294571	70294571	Human		name
152121572	CV1570269	single nucleotide variant	NM_001851.6(COL9A1):c.166+7A>G	not provided [RCV002216851]	likely benign	6	70300302	70300302	Human		name
152137249	CV1580384	single nucleotide variant	NM_001851.6(COL9A1):c.167-9A>G	not provided [RCV002156295]	likely benign	6	70300184	70300184	Human		name
152118892	CV1600736	single nucleotide variant	NM_001851.6(COL9A1):c.89-20A>G	not provided [RCV002154001]	likely benign	6	70300406	70300406	Human		name
152085969	CV1621153	single nucleotide variant	NM_001851.6(COL9A1):c.88+13G>A	not provided [RCV002193639]	likely benign	6	70301988	70301988	Human		name
152113360	CV1623860	single nucleotide variant	NM_001851.6(COL9A1):c.697-4C>G	not provided [RCV002134775]	likely benign	6	70283824	70283824	Human		name
152111784	CV1640450	single nucleotide variant	NM_001851.6(COL9A1):c.912+8G>T	not provided [RCV002174428]	likely benign	6	70280996	70280996	Human		name
152980406	CV1678599	single nucleotide variant	NM_001851.6(COL9A1):c.913-5C>G	not specified [RCV002247107]	uncertain significance	6	70280879	70280879	Human		name
156389561	CV1989987	single nucleotide variant	NM_001851.6(COL9A1):c.802-8T>G	not provided [RCV002604548]	likely benign	6	70281472	70281472	Human		name
155992858	CV2147709	single nucleotide variant	NM_001851.6(COL9A1):c.166+3G>A	not provided [RCV003016913]	uncertain significance	6	70300306	70300306	Human		name
11545187	CV252480	single nucleotide variant	NM_001851.6(COL9A1):c.89-12T>C	not provided [RCV001511433]\|not specified [RCV000244799]	benign\|likely benign	6	70300398	70300398	Human		name
11544547	CV252481	single nucleotide variant	NM_001851.6(COL9A1):c.14+39A>G	not provided [RCV001610619]\|not specified [RCV000243939]	benign	6	70302872	70302872	Human		name
405015988	CV2859543	single nucleotide variant	NM_001851.6(COL9A1):c.88+14T>A	not provided [RCV003577132]	likely benign	6	70301987	70301987	Human		name
405201869	CV2861382	single nucleotide variant	NM_001851.6(COL9A1):c.877-1G>T	not provided [RCV003551465]	likely pathogenic	6	70281040	70281040	Human		name
405007133	CV2926685	single nucleotide variant	NM_001851.6(COL9A1):c.913-2A>C	not provided [RCV003576426]	likely pathogenic	6	70280876	70280876	Human		name
405065752	CV2937233	single nucleotide variant	NM_001851.6(COL9A1):c.781-1G>C	not provided [RCV003663676]	likely pathogenic	6	70282919	70282919	Human		name
405144018	CV2959025	single nucleotide variant	NM_001851.6(COL9A1):c.166+8G>A	not provided [RCV003673478]	likely benign	6	70300301	70300301	Human		name
405166114	CV2960694	single nucleotide variant	NM_001851.6(COL9A1):c.876+8T>C	not provided [RCV003674956]	likely benign	6	70281382	70281382	Human		name
402489427	CV2984472	single nucleotide variant	NM_001851.6(COL9A1):c.781-9C>A	not provided [RCV003713629]	likely benign	6	70282927	70282927	Human		name
405046479	CV3014236	single nucleotide variant	NM_001851.6(COL9A1):c.877-8C>G	not provided [RCV003696693]	likely benign	6	70281047	70281047	Human		name
405112818	CV3133657	single nucleotide variant	NM_001851.6(COL9A1):c.299+8A>G	not provided [RCV003836450]	likely benign	6	70300035	70300035	Human		name
405106129	CV3136070	single nucleotide variant	NM_001851.6(COL9A1):c.913-4T>C	not provided [RCV003835416]	likely benign	6	70280878	70280878	Human		name
402468500	CV3174525	single nucleotide variant	NM_001851.6(COL9A1):c.913-9C>G	not provided [RCV003873635]	likely benign	6	70280883	70280883	Human		name
405289107	CV3193997	single nucleotide variant	NM_001851.6(COL9A1):c.167-4A>T	COL9A1-related disorder [RCV003983500]	likely benign	6	70300179	70300179	Human		name , trait , alternate_id
8566085	CV32233	duplication	NM_001851.6(COL9A1):c.876+2dup	COL9A1-related disorder [RCV004751218]\|Epiphyseal dysplasia, multiple, 6 [RCV000018734]\|Epiphyseal dysplasia, multiple, 6 [RCV002476989]\|not provided [RCV001052368]	pathogenic\|uncertain significance	6	70281387	70281388	Human	1	name , alternate_id
405853994	CV3395467	single nucleotide variant	NM_001851.6(COL9A1):c.976-1G>A	Epiphyseal dysplasia, multiple, 6 [RCV004555723]	uncertain significance	6	70274773	70274773	Human	1	name
12739026	CV361186	single nucleotide variant	NM_001851.6(COL9A1):c.876+2T>A	COL9A1-related disorder [RCV004529569]\|Epiphyseal dysplasia, multiple, 6 [RCV000415246]\|Stickler syndrome, type 4 [RCV001334962]\|not provided [RCV000579034]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	70281388	70281388	Human	2	name , alternate_id
12844675	CV368720	single nucleotide variant	NM_001851.6(COL9A1):c.876+6T>C	not provided [RCV000967003]	benign\|likely benign	6	70281384	70281384	Human		name
597840308	CV3737155	single nucleotide variant	NM_001851.6(COL9A1):c.802-4C>A	not provided [RCV005064635]	likely benign	6	70281468	70281468	Human		name
597831563	CV3740045	single nucleotide variant	NM_001851.6(COL9A1):c.877-6C>T	not provided [RCV005062743]	likely benign	6	70281045	70281045	Human		name
597973371	CV3801099	single nucleotide variant	NM_001851.6(COL9A1):c.801+9G>T	not provided [RCV005143294]	likely benign	6	70282889	70282889	Human		name
597962074	CV3809072	single nucleotide variant	NM_001851.6(COL9A1):c.976-9C>T	not provided [RCV005163974]	likely benign	6	70274781	70274781	Human		name
597919802	CV3811704	single nucleotide variant	NM_001851.6(COL9A1):c.89-18A>G	not provided [RCV005155535]	likely benign	6	70300404	70300404	Human		name
597951310	CV3815336	single nucleotide variant	NM_001851.6(COL9A1):c.300-4T>A	not provided [RCV005161286]	likely benign	6	70294567	70294567	Human		name
597926163	CV3819671	single nucleotide variant	NM_001851.6(COL9A1):c.300-6A>G	not provided [RCV005156371]	likely benign	6	70294569	70294569	Human		name
597967574	CV3824274	single nucleotide variant	NM_001851.6(COL9A1):c.89-11C>T	not provided [RCV005165497]	likely benign	6	70300397	70300397	Human		name
597911455	CV3826135	single nucleotide variant	NM_001851.6(COL9A1):c.89-15C>T	not provided [RCV005182871]	likely benign	6	70300401	70300401	Human		name
597873762	CV3849927	single nucleotide variant	NM_001851.6(COL9A1):c.89-13A>C	not provided [RCV005197916]	likely benign	6	70300399	70300399	Human		name
597909248	CV3853789	single nucleotide variant	NM_001851.6(COL9A1):c.14+13C>G	not provided [RCV005203272]	likely benign	6	70302898	70302898	Human		name
13476605	CV443981	single nucleotide variant	NM_001851.6(COL9A1):c.876+1G>C	Inborn genetic diseases [RCV000622963]\|not provided [RCV000520196]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	6	70281389	70281389	Human	1	name
14734199	CV661908	single nucleotide variant	NM_001851.6(COL9A1):c.89-28G>A	not provided [RCV000837442]	likely benign	6	70300414	70300414	Human		name
14742880	CV662324	single nucleotide variant	NM_001851.6(COL9A1):c.780+7C>A	COL9A1-related disorder [RCV003918306]\|not provided [RCV000841687]	likely benign	6	70283730	70283730	Human	1	name , alternate_id
15183269	CV744235	single nucleotide variant	NM_001851.6(COL9A1):c.167-9A>T	not provided [RCV000908023]	likely benign	6	70300184	70300184	Human		name
38495931	CV960609	single nucleotide variant	NM_001851.6(COL9A1):c.166+5G>A	not provided [RCV001242241]\|not specified [RCV001699524]	benign\|uncertain significance	6	70300304	70300304	Human		name
126921846	CV1044314	single nucleotide variant	NM_001851.6(COL9A1):c.2035-5T>A	not provided [RCV001363968]	uncertain significance	6	70240738	70240738	Human		name
126916645	CV1044316	single nucleotide variant	NM_001851.6(COL9A1):c.1765-6C>T	not provided [RCV001371628]	likely benign\|uncertain significance	6	70252321	70252321	Human		name
127243979	CV1055631	single nucleotide variant	NM_001851.6(COL9A1):c.1143+1G>A	not provided [RCV001377192]	likely pathogenic	6	70271654	70271654	Human		name
127249138	CV1073930	single nucleotide variant	NM_001851.6(COL9A1):c.2260-4C>T	not provided [RCV001399541]	likely benign	6	70234597	70234597	Human		name
127251245	CV1073939	single nucleotide variant	NM_001851.6(COL9A1):c.975+11G>A	not provided [RCV001400033]	likely benign	6	70280801	70280801	Human		name
127230700	CV1073940	single nucleotide variant	NM_001851.6(COL9A1):c.876+10T>C	not provided [RCV001412631]	likely benign	6	70281380	70281380	Human		name
127232379	CV1073942	single nucleotide variant	NM_001851.6(COL9A1):c.697-12A>G	not provided [RCV001395660]	likely benign	6	70283832	70283832	Human		name
127230510	CV1073945	single nucleotide variant	NM_001851.6(COL9A1):c.299+16T>C	not provided [RCV001412490]	likely benign	6	70300027	70300027	Human		name
127264892	CV1095497	single nucleotide variant	NM_001851.6(COL9A1):c.2504-5T>C	not provided [RCV001439748]	likely benign	6	70226014	70226014	Human		name
127282998	CV1095503	single nucleotide variant	NM_001851.6(COL9A1):c.166+20A>G	not provided [RCV001448205]	likely benign	6	70300289	70300289	Human		name
127312610	CV1117064	single nucleotide variant	NM_001851.6(COL9A1):c.1287+7G>T	not provided [RCV001464465]	likely benign	6	70268797	70268797	Human		name
127302277	CV1117065	single nucleotide variant	NM_001851.6(COL9A1):c.1090-6C>T	not provided [RCV001454409]	likely benign	6	70271714	70271714	Human		name
127287013	CV1138002	single nucleotide variant	NM_001851.6(COL9A1):c.780+19T>C	not provided [RCV001494669]	likely benign	6	70283718	70283718	Human		name
127319256	CV1155470	duplication	NM_001851.6(COL9A1):c.2079+7dup	Epiphyseal dysplasia, multiple, 6 [RCV002506632]\|not provided [RCV001522046]	benign\|likely benign	6	70240672	70240673	Human	1	name
150338909	CV1167393	single nucleotide variant	NM_001851.6(COL9A1):c.15-134A>G	not provided [RCV001533864]	benign	6	70302208	70302208	Human		name
150340010	CV1168090	single nucleotide variant	NM_001851.6(COL9A1):c.976-88C>T	not provided [RCV001534859]	benign	6	70274860	70274860	Human		name
150420467	CV1180212	single nucleotide variant	NM_001851.6(COL9A1):c.802-22C>T	not provided [RCV001551558]	likely benign	6	70281486	70281486	Human		name
150426021	CV1183867	single nucleotide variant	NM_001851.6(COL9A1):c.696+26C>A	not provided [RCV001558799]	likely benign	6	70294141	70294141	Human		name
150426951	CV1187114	deletion	NM_001851.6(COL9A1):c.15-131del	not provided [RCV001560267]	likely benign	6	70302205	70302205	Human		name
150414805	CV1190536	single nucleotide variant	NM_001851.6(COL9A1):c.15-159C>T	not provided [RCV001567703]	likely benign	6	70302233	70302233	Human		name
150419708	CV1193814	single nucleotide variant	NM_001851.6(COL9A1):c.2582-3C>T	not provided [RCV001569800]	likely benign\|conflicting interpretations of pathogenicity	6	70217084	70217084	Human		name
150418776	CV1197569	deletion	NM_001851.6(COL9A1):c.166+60del	not provided [RCV001576888]	likely benign	6	70300249	70300249	Human		name
150490045	CV1208547	single nucleotide variant	NM_001851.6(COL9A1):c.14+133G>A	not provided [RCV001592408]	likely benign	6	70302778	70302778	Human		name
150434805	CV1215982	duplication	NM_001851.6(COL9A1):c.166+50dup	not provided [RCV001609171]	benign	6	70300248	70300249	Human		name
150491746	CV1225354	duplication	NM_001851.6(COL9A1):c.876+77dup	not provided [RCV001618869]	benign	6	70281300	70281301	Human		name
150486894	CV1251432	duplication	NM_001851.6(COL9A1):c.15-153dup	not provided [RCV001674103]	benign	6	70302204	70302205	Human		name
150467010	CV1255835	duplication	NM_001851.6(COL9A1):c.975+72dup	not provided [RCV001670469]	benign	6	70280732	70280733	Human		name
150445522	CV1269448	deletion	NM_001851.6(COL9A1):c.876+89del	not provided [RCV001691136]	benign	6	70281301	70281301	Human		name
150444415	CV1288018	single nucleotide variant	NM_001851.6(COL9A1):c.976-87A>G	not provided [RCV001725740]	benign	6	70274859	70274859	Human		name
150533854	CV1305945	single nucleotide variant	NM_001851.6(COL9A1):c.1341+4A>G	not provided [RCV001755347]	uncertain significance	6	70266713	70266713	Human		name
150541477	CV1306378	single nucleotide variant	NM_001851.6(COL9A1):c.1396-6T>C	not provided [RCV001768000]	conflicting interpretations of pathogenicity\|uncertain significance	6	70260716	70260716	Human		name
151781542	CV1357941	single nucleotide variant	NM_001851.6(COL9A1):c.1197+6T>A	not provided [RCV001875402]	uncertain significance	6	70270308	70270308	Human		name
151810655	CV1359303	single nucleotide variant	NM_001851.6(COL9A1):c.1665+2T>C	COL9A1-related disorder [RCV004731222]\|not provided [RCV001991795]	likely pathogenic	6	70254961	70254961	Human	1	name , alternate_id
151766995	CV1393924	single nucleotide variant	NM_001851.6(COL9A1):c.1873-6T>G	not provided [RCV002008479]	likely benign\|uncertain significance	6	70242721	70242721	Human		name
151765498	CV1407800	single nucleotide variant	NM_001851.6(COL9A1):c.2035-6T>A	not provided [RCV002044736]	uncertain significance	6	70240739	70240739	Human		name
151773736	CV1414596	single nucleotide variant	NM_001851.6(COL9A1):c.1926+6T>C	not provided [RCV001874697]	uncertain significance	6	70242656	70242656	Human		name
151876281	CV1466971	duplication	NM_001851.6(COL9A1):c.1029+4dup	not provided [RCV001885897]	uncertain significance	6	70274714	70274715	Human		name
151853436	CV1485029	single nucleotide variant	NM_001851.6(COL9A1):c.2112+8T>A	not provided [RCV002033474]	uncertain significance	6	70239246	70239246	Human		name
151726670	CV1488304	single nucleotide variant	NM_001851.6(COL9A1):c.299+18T>G	not provided [RCV001966676]	likely benign\|uncertain significance	6	70300025	70300025	Human		name
152122407	CV1521608	single nucleotide variant	NM_001851.6(COL9A1):c.975+13G>A	not provided [RCV002135879]	likely benign	6	70280799	70280799	Human		name
152159629	CV1522680	single nucleotide variant	NM_001851.6(COL9A1):c.801+20T>C	not provided [RCV002140693]	likely benign	6	70282878	70282878	Human		name
152088851	CV1527688	single nucleotide variant	NM_001851.6(COL9A1):c.696+20C>T	not provided [RCV002093891]	likely benign	6	70294147	70294147	Human		name
152053046	CV1531944	single nucleotide variant	NM_001851.6(COL9A1):c.2260-6T>C	not provided [RCV002072619]	likely benign	6	70234599	70234599	Human		name
152032407	CV1548999	single nucleotide variant	NM_001851.6(COL9A1):c.300-19A>G	not provided [RCV002086572]	likely benign	6	70294582	70294582	Human		name
152148843	CV1551989	single nucleotide variant	NM_001851.6(COL9A1):c.1030-7T>A	not provided [RCV002157857]	likely benign	6	70274089	70274089	Human		name
152060919	CV1557477	single nucleotide variant	NM_001851.6(COL9A1):c.801+10G>C	not provided [RCV002146764]	likely benign	6	70282888	70282888	Human		name
152163719	CV1575495	single nucleotide variant	NM_001851.6(COL9A1):c.801+12G>A	not provided [RCV002181387]	likely benign	6	70282886	70282886	Human		name
152170551	CV1578185	single nucleotide variant	NM_001851.6(COL9A1):c.1720-6T>C	not provided [RCV002183191]	likely benign	6	70253435	70253435	Human		name
152102151	CV1605880	single nucleotide variant	NM_001851.6(COL9A1):c.975+12A>C	not provided [RCV002095673]	likely benign	6	70280800	70280800	Human		name
152077842	CV1613032	single nucleotide variant	NM_001851.6(COL9A1):c.802-20A>G	not provided [RCV002075975]	likely benign	6	70281484	70281484	Human		name
152160889	CV1619228	single nucleotide variant	NM_001851.6(COL9A1):c.1288-8T>C	not provided [RCV002159618]	likely benign	6	70266778	70266778	Human		name
152104578	CV1622671	single nucleotide variant	NM_001851.6(COL9A1):c.696+19A>G	not provided [RCV002214633]	likely benign	6	70294148	70294148	Human		name
152042480	CV1624248	single nucleotide variant	NM_001851.6(COL9A1):c.300-17T>C	not provided [RCV002126268]	likely benign	6	70294580	70294580	Human		name
152027049	CV1626742	single nucleotide variant	NM_001851.6(COL9A1):c.1765-5C>T	not provided [RCV002185364]	likely benign	6	70252320	70252320	Human		name
152071179	CV1628585	single nucleotide variant	NM_001851.6(COL9A1):c.976-14T>C	not provided [RCV002169309]	likely benign	6	70274786	70274786	Human		name
152124610	CV1629115	duplication	NM_001851.6(COL9A1):c.1450-5dup	not provided [RCV002118284]	benign	6	70256825	70256826	Human		name
152057436	CV1635190	single nucleotide variant	NM_001851.6(COL9A1):c.300-15A>G	not provided [RCV002089874]	likely benign	6	70294578	70294578	Human		name
152081132	CV1641313	single nucleotide variant	NM_001851.6(COL9A1):c.697-16T>C	not provided [RCV002211434]	likely benign	6	70283836	70283836	Human		name
152104696	CV1645487	single nucleotide variant	NM_001851.6(COL9A1):c.801+19G>T	not provided [RCV002133699]	likely benign	6	70282879	70282879	Human		name
152979976	CV1675825	single nucleotide variant	NM_001851.6(COL9A1):c.1143+4A>G	not provided [RCV002244416]	uncertain significance	6	70271651	70271651	Human		name
153349354	CV1693157	single nucleotide variant	NM_001851.6(COL9A1):c.2260-1G>A	not provided [RCV002275755]	likely pathogenic	6	70234594	70234594	Human		name
153347721	CV1694769	single nucleotide variant	NM_001851.6(COL9A1):c.1143+4A>T	Connective tissue disorder [RCV002278699]	uncertain significance	6	70271651	70271651	Human	1	name
155266318	CV1699762	single nucleotide variant	NM_001851.6(COL9A1):c.1719+2T>C	COL9A1-related disorder [RCV004529120]	likely pathogenic	6	70254474	70254474	Human		name , trait , alternate_id
10048026	CV191993	single nucleotide variant	NM_001851.6(COL9A1):c.1288-9A>G	not provided [RCV000917665]\|not specified [RCV000175294]	benign\|likely benign	6	70266779	70266779	Human		name
10050487	CV191994	single nucleotide variant	NM_001851.6(COL9A1):c.1341+5G>A	not provided [RCV000175295]	uncertain significance	6	70266712	70266712	Human		name
156440295	CV1946658	single nucleotide variant	NM_001851.6(COL9A1):c.1287+7G>C	not provided [RCV003110327]	likely benign	6	70268797	70268797	Human		name
156246808	CV1953564	single nucleotide variant	NM_001851.6(COL9A1):c.913-17C>T	not provided [RCV002576410]	likely benign	6	70280891	70280891	Human		name
156402598	CV1988652	single nucleotide variant	NM_001851.6(COL9A1):c.1066-1G>T	not provided [RCV002605752]	likely pathogenic	6	70272089	70272089	Human		name
156350780	CV2001371	single nucleotide variant	NM_001851.6(COL9A1):c.2112+4A>G	not provided [RCV002675577]	uncertain significance	6	70239250	70239250	Human		name
156094203	CV2004465	single nucleotide variant	NM_001851.6(COL9A1):c.2581+5G>A	not provided [RCV002639332]	uncertain significance	6	70225927	70225927	Human		name
156132352	CV2022792	single nucleotide variant	NM_001851.6(COL9A1):c.2260-2A>G	not provided [RCV002740612]	likely pathogenic	6	70234595	70234595	Human		name
155963125	CV2037867	single nucleotide variant	NM_001851.6(COL9A1):c.299+12A>G	not provided [RCV002776367]	likely benign	6	70300031	70300031	Human		name
156242562	CV2043841	single nucleotide variant	NM_001851.6(COL9A1):c.1558-7C>T	not provided [RCV002805729]	likely benign	6	70255210	70255210	Human		name
156279848	CV2053771	single nucleotide variant	NM_001851.6(COL9A1):c.2034+1G>C	not provided [RCV002806952]	likely pathogenic	6	70241418	70241418	Human		name
156268456	CV2059721	single nucleotide variant	NM_001851.6(COL9A1):c.1927-1G>A	not provided [RCV002806576]	likely pathogenic	6	70242036	70242036	Human		name
156107778	CV2061934	single nucleotide variant	NM_001851.6(COL9A1):c.802-16C>A	not provided [RCV002824799]	likely benign	6	70281480	70281480	Human		name
156197148	CV2066649	single nucleotide variant	NM_001851.6(COL9A1):c.976-20T>C	not provided [RCV002828809]	likely benign	6	70274792	70274792	Human		name
156154413	CV2098639	single nucleotide variant	NM_001851.6(COL9A1):c.1720-3T>C	not provided [RCV002890764]	uncertain significance	6	70253432	70253432	Human		name
155998926	CV2106641	single nucleotide variant	NM_001851.6(COL9A1):c.1287+5G>A	not provided [RCV002947693]	uncertain significance	6	70268799	70268799	Human		name
156373955	CV2123906	single nucleotide variant	NM_001851.6(COL9A1):c.1198-1G>C	not provided [RCV002942554]	likely pathogenic	6	70269666	70269666	Human		name
156085676	CV2144921	single nucleotide variant	NM_001851.6(COL9A1):c.1719+3A>G	not provided [RCV003020500]	uncertain significance	6	70254473	70254473	Human		name
156312915	CV2160553	single nucleotide variant	NM_001851.6(COL9A1):c.1503+6T>C	not provided [RCV003046135]	uncertain significance	6	70256762	70256762	Human		name
156118877	CV2174759	single nucleotide variant	NM_001851.6(COL9A1):c.802-19T>C	not provided [RCV003055389]	likely benign	6	70281483	70281483	Human		name
156373372	CV2185241	single nucleotide variant	NM_001851.6(COL9A1):c.1287+2T>C	not provided [RCV003049894]	likely pathogenic	6	70268802	70268802	Human		name
11550980	CV252470	single nucleotide variant	NM_001851.6(COL9A1):c.1089+9C>G	Connective tissue disorder [RCV002277626]\|not provided [RCV001513976]\|not specified [RCV000252454]	benign\|likely benign	6	70272056	70272056	Human	1	name
11543773	CV252472	single nucleotide variant	NM_001851.6(COL9A1):c.1066-3T>C	not provided [RCV000710920]\|not specified [RCV000242907]	benign\|likely benign	6	70272091	70272091	Human		name
11548636	CV252475	single nucleotide variant	NM_001851.6(COL9A1):c.975+45G>A	not provided [RCV001675713]\|not specified [RCV000249345]	benign	6	70280767	70280767	Human		name
11551249	CV252476	single nucleotide variant	NM_001851.6(COL9A1):c.876+13C>T	not provided [RCV001511428]\|not specified [RCV000252793]	benign\|likely benign	6	70281377	70281377	Human		name
11547800	CV252477	single nucleotide variant	NM_001851.6(COL9A1):c.801+11G>C	not provided [RCV001518055]\|not specified [RCV000248239]	benign\|likely benign	6	70282887	70282887	Human		name
11552311	CV252478	single nucleotide variant	NM_001851.6(COL9A1):c.167-11C>T	not provided [RCV002058086]\|not specified [RCV000254210]	likely benign	6	70300186	70300186	Human		name
11546326	CV252479	single nucleotide variant	NM_001851.6(COL9A1):c.166+12T>C	not provided [RCV004706713]\|not specified [RCV000246313]	likely benign	6	70300297	70300297	Human		name
401948053	CV2832164	single nucleotide variant	NM_001851.6(COL9A1):c.1450-1G>T	Stickler syndrome, type 4 [RCV003447689]	likely pathogenic	6	70256822	70256822	Human	1	name
402484309	CV2855107	single nucleotide variant	NM_001851.6(COL9A1):c.2315-2A>G	not provided [RCV003544324]	likely pathogenic	6	70232773	70232773	Human		name
402480607	CV2864046	single nucleotide variant	NM_001851.6(COL9A1):c.1558-5T>C	not provided [RCV003543984]	likely benign	6	70255208	70255208	Human		name
402480972	CV2864122	single nucleotide variant	NM_001851.6(COL9A1):c.802-18G>C	not provided [RCV003544022]	likely benign	6	70281482	70281482	Human		name
402491096	CV2866661	single nucleotide variant	NM_001851.6(COL9A1):c.1342-6C>T	not provided [RCV003572944]	likely benign	6	70263303	70263303	Human		name
405208461	CV2870544	single nucleotide variant	NM_001851.6(COL9A1):c.912+16C>T	not provided [RCV003552252]	likely benign	6	70280988	70280988	Human		name
402493042	CV2878032	single nucleotide variant	NM_001851.6(COL9A1):c.1231-9C>T	not provided [RCV003545134]	likely benign	6	70268869	70268869	Human		name
402471011	CV2904376	single nucleotide variant	NM_001851.6(COL9A1):c.1450-4G>A	not provided [RCV003570486]	likely benign	6	70256825	70256825	Human		name
405208418	CV2909226	single nucleotide variant	NM_001851.6(COL9A1):c.913-20A>G	not provided [RCV003566786]	likely benign	6	70280894	70280894	Human		name
402477636	CV2914395	single nucleotide variant	NM_001851.6(COL9A1):c.1342-9T>C	not provided [RCV003571694]	likely benign	6	70263306	70263306	Human		name
402504074	CV2933494	single nucleotide variant	NM_001851.6(COL9A1):c.802-11A>G	not provided [RCV003574290]	likely benign	6	70281475	70281475	Human		name
402497696	CV2946651	single nucleotide variant	NM_001851.6(COL9A1):c.1231-8C>G	not provided [RCV003661291]	likely benign	6	70268868	70268868	Human		name
405146906	CV2962760	single nucleotide variant	NM_001851.6(COL9A1):c.696+16C>T	not provided [RCV003673712]	likely benign	6	70294151	70294151	Human		name
405233717	CV2981874	single nucleotide variant	NM_001851.6(COL9A1):c.1999-7A>G	not provided [RCV003711944]	likely benign	6	70241461	70241461	Human		name
405212373	CV2984076	single nucleotide variant	NM_001851.6(COL9A1):c.1720-2A>G	not provided [RCV003708880]	likely pathogenic	6	70253431	70253431	Human		name
11586323	CV300946	single nucleotide variant	NM_001851.6(COL9A1):c.1288-4T>A	not provided [RCV000913915]\|not specified [RCV000601361]	benign\|likely benign	6	70266774	70266774	Human		name
405030967	CV3012772	single nucleotide variant	NM_001851.6(COL9A1):c.2581+9G>A	not provided [RCV003695566]	likely benign	6	70225923	70225923	Human		name
405131621	CV3021855	single nucleotide variant	NM_001851.6(COL9A1):c.1144-8T>A	not provided [RCV003701748]	likely benign	6	70270375	70270375	Human		name
405156411	CV3028067	single nucleotide variant	NM_001851.6(COL9A1):c.975+18G>C	not provided [RCV003703569]	likely benign	6	70280794	70280794	Human		name
402504558	CV3038874	single nucleotide variant	NM_001851.6(COL9A1):c.912+19A>C	not provided [RCV003715072]	likely benign	6	70280985	70280985	Human		name
402504749	CV3038906	single nucleotide variant	NM_001851.6(COL9A1):c.876+20C>T	not provided [RCV003715089]	likely benign	6	70281370	70281370	Human		name
11602918	CV308553	single nucleotide variant	NM_001851.5(COL9A1):c.2112+8T>C	Multiple Epiphyseal Dysplasia, Dominant [RCV000389424]\|Stickler Syndrome, Recessive [RCV000294937]	uncertain significance	6	70239246	70239246	Human		name
11654411	CV308578	single nucleotide variant	NM_001851.6(COL9A1):c.1999-3C>T	not provided [RCV003689250]	uncertain significance	6	70241457	70241457	Human		name
11646336	CV308611	single nucleotide variant	NM_001851.5(COL9A1):c.299+10C>T	Multiple Epiphyseal Dysplasia, Dominant [RCV000270100]\|Stickler Syndrome, Recessive [RCV000327494]	uncertain significance	6	70300033	70300033	Human		name
405220400	CV3154405	single nucleotide variant	NM_001851.6(COL9A1):c.913-15T>A	not provided [RCV003847097]	likely benign	6	70280889	70280889	Human		name
405231464	CV3157340	single nucleotide variant	NM_001851.6(COL9A1):c.976-16T>C	not provided [RCV003865290]	likely benign	6	70274788	70274788	Human		name
405166451	CV3160585	single nucleotide variant	NM_001851.6(COL9A1):c.780+18C>T	not provided [RCV003857465]	likely benign	6	70283719	70283719	Human		name
405094326	CV3164217	single nucleotide variant	NM_001851.6(COL9A1):c.697-15A>G	not provided [RCV003852532]	likely benign	6	70283835	70283835	Human		name
405238078	CV3165445	single nucleotide variant	NM_001851.6(COL9A1):c.1230+7T>C	not provided [RCV003866647]	likely benign	6	70269626	70269626	Human		name
405205321	CV3165585	single nucleotide variant	NM_001851.6(COL9A1):c.781-13T>G	not provided [RCV003861251]	likely benign	6	70282931	70282931	Human		name
405235572	CV3166252	single nucleotide variant	NM_001851.6(COL9A1):c.2581+6T>C	not provided [RCV003853701]	uncertain significance	6	70225926	70225926	Human		name
405195341	CV3168027	single nucleotide variant	NM_001851.6(COL9A1):c.2035-8A>C	not provided [RCV003860159]	likely benign	6	70240741	70240741	Human		name
405237339	CV3169204	single nucleotide variant	NM_001851.6(COL9A1):c.802-20A>T	not provided [RCV003866483]	likely benign	6	70281484	70281484	Human		name
402501509	CV3180990	single nucleotide variant	NM_001851.6(COL9A1):c.781-16A>G	not provided [RCV003878007]	likely benign	6	70282934	70282934	Human		name
405277640	CV3195961	single nucleotide variant	NM_001851.6(COL9A1):c.1342-7T>G	COL9A1-related disorder [RCV003904484]	likely benign	6	70263304	70263304	Human		name , trait , alternate_id
408378808	CV3516368	single nucleotide variant	NM_001851.6(COL9A1):c.1665+6C>T	COL9A1-related disorder [RCV004752449]	likely benign	6	70254957	70254957	Human		name , trait , alternate_id
12740973	CV359752	single nucleotide variant	NM_001851.6(COL9A1):c.1557+6T>C	not specified [RCV000413694]	uncertain significance	6	70255331	70255331	Human		name
597887798	CV3741994	duplication	NM_001851.6(COL9A1):c.1666-5dup	not provided [RCV005070714]	benign	6	70254533	70254534	Human		name
597862010	CV3745148	single nucleotide variant	NM_001851.6(COL9A1):c.166+18C>A	not provided [RCV005067504]	likely benign	6	70300291	70300291	Human		name
597971268	CV3750676	single nucleotide variant	NM_001851.6(COL9A1):c.1612-6G>A	not provided [RCV005084420]	likely benign	6	70255022	70255022	Human		name
597961240	CV3753202	single nucleotide variant	NM_001851.6(COL9A1):c.2259+8G>C	not provided [RCV005081702]	likely benign	6	70234786	70234786	Human		name
597956756	CV3754718	single nucleotide variant	NM_001851.6(COL9A1):c.801+11G>A	not provided [RCV005080568]	likely benign	6	70282887	70282887	Human		name
597953097	CV3756981	single nucleotide variant	NM_001851.6(COL9A1):c.1144-9A>C	not provided [RCV005079842]	likely benign	6	70270376	70270376	Human		name
597953914	CV3757071	single nucleotide variant	NM_001851.6(COL9A1):c.1287+8A>G	not provided [RCV005079932]	likely benign	6	70268796	70268796	Human		name
597936546	CV3777683	single nucleotide variant	NM_001851.6(COL9A1):c.2315-5T>C	not provided [RCV005132596]	likely benign	6	70232776	70232776	Human		name
597945476	CV3779634	single nucleotide variant	NM_001851.6(COL9A1):c.975+16C>T	not provided [RCV005134598]	likely benign	6	70280796	70280796	Human		name
597969653	CV3791657	single nucleotide variant	NM_001851.6(COL9A1):c.1873-1G>C	not provided [RCV005141474]	likely pathogenic	6	70242716	70242716	Human		name
597966744	CV3794309	single nucleotide variant	NM_001851.6(COL9A1):c.912+20T>C	not provided [RCV005140485]	likely benign	6	70280984	70280984	Human		name
597867153	CV3802763	single nucleotide variant	NM_001851.6(COL9A1):c.1764+7T>C	not provided [RCV005147550]	likely benign	6	70253378	70253378	Human		name
597910457	CV3806620	single nucleotide variant	NM_001851.6(COL9A1):c.697-17C>G	not provided [RCV005154187]	likely benign	6	70283837	70283837	Human		name
597921801	CV3808092	single nucleotide variant	NM_001851.6(COL9A1):c.801+14A>T	not provided [RCV005155800]	likely benign	6	70282884	70282884	Human		name
597955457	CV3809473	single nucleotide variant	NM_001851.6(COL9A1):c.1450-4G>T	not provided [RCV005162198]	likely benign	6	70256825	70256825	Human		name
597972598	CV3823425	single nucleotide variant	NM_001851.6(COL9A1):c.1090-5T>C	not provided [RCV005167521]	likely benign	6	70271713	70271713	Human		name
597912320	CV3850657	single nucleotide variant	NM_001851.6(COL9A1):c.975+20G>A	not provided [RCV005203805]	likely benign	6	70280792	70280792	Human		name
597885077	CV3854765	single nucleotide variant	NM_001851.6(COL9A1):c.1341+2T>C	not provided [RCV005199610]	likely pathogenic	6	70266715	70266715	Human		name
597934299	CV3858757	single nucleotide variant	NM_001851.6(COL9A1):c.877-11T>C	not provided [RCV005207227]	likely benign	6	70281050	70281050	Human		name
13509622	CV481767	single nucleotide variant	NM_001851.6(COL9A1):c.1230+5G>C	not provided [RCV000578503]	uncertain significance	6	70269628	70269628	Human		name
13540547	CV501423	single nucleotide variant	NM_001851.6(COL9A1):c.780+14C>G	not specified [RCV000614850]	likely benign	6	70283723	70283723	Human		name
13535325	CV501680	single nucleotide variant	NM_001851.6(COL9A1):c.2113-4C>T	not specified [RCV000607694]	likely benign	6	70234944	70234944	Human		name
13541668	CV501772	single nucleotide variant	NM_001851.6(COL9A1):c.2259+7G>T	not provided [RCV001402585]\|not specified [RCV000616477]	likely benign	6	70234787	70234787	Human		name
13527049	CV502023	single nucleotide variant	NM_001851.6(COL9A1):c.1665+5G>T	not provided [RCV001065737]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70254958	70254958	Human		name
14736109	CV661896	single nucleotide variant	NM_001851.6(COL9A1):c.912+37C>T	not provided [RCV000838325]	likely benign	6	70280967	70280967	Human		name
14734447	CV661899	single nucleotide variant	NM_001851.6(COL9A1):c.876+76G>T	not provided [RCV000837561]	likely benign	6	70281314	70281314	Human		name
14709547	CV661906	deletion	NM_001851.6(COL9A1):c.300-67del	not provided [RCV000837443]	benign	6	70294630	70294630	Human		name
14708075	CV662229	single nucleotide variant	NM_001851.6(COL9A1):c.299+14A>C	not provided [RCV000827033]	benign\|likely benign	6	70300029	70300029	Human		name
14736105	CV662230	single nucleotide variant	NM_001851.6(COL9A1):c.88+195G>A	not provided [RCV000838322]	benign	6	70301806	70301806	Human		name
14734197	CV662233	single nucleotide variant	NM_001851.6(COL9A1):c.88+151T>A	not provided [RCV000837441]	benign	6	70301850	70301850	Human		name
14734196	CV662236	single nucleotide variant	NM_001851.6(COL9A1):c.88+150G>T	not provided [RCV000837440]	benign	6	70301851	70301851	Human		name
14734552	CV662238	single nucleotide variant	NM_001851.6(COL9A1):c.88+108C>T	not provided [RCV000837609]	benign	6	70301893	70301893	Human		name
14734194	CV662241	single nucleotide variant	NM_001851.6(COL9A1):c.15-199C>G	not provided [RCV000837439]	benign	6	70302273	70302273	Human		name
14734325	CV662297	single nucleotide variant	NM_001851.6(COL9A1):c.14+132G>A	not provided [RCV000837504]	likely benign	6	70302779	70302779	Human		name
14734200	CV662312	single nucleotide variant	NM_001851.6(COL9A1):c.877-23C>G	Epiphyseal dysplasia, multiple, 6 [RCV001664472]\|not provided [RCV000837444]	benign	6	70281062	70281062	Human	1	name
15110375	CV779369	single nucleotide variant	NM_001851.6(COL9A1):c.1197+9T>C	not provided [RCV000960886]	likely benign	6	70270305	70270305	Human		name
15127643	CV787381	single nucleotide variant	NM_001851.6(COL9A1):c.976-10G>T	COL9A1-related disorder [RCV003928617]\|not provided [RCV000980579]	likely benign	6	70274782	70274782	Human	1	name , alternate_id
26890784	CV851097	single nucleotide variant	NM_001851.6(COL9A1):c.1504-3C>T	COL9A1-related disorder [RCV003963022]\|not provided [RCV001059715]	likely benign\|uncertain significance	6	70255393	70255393	Human	1	name , alternate_id
38474534	CV940046	single nucleotide variant	NM_001851.6(COL9A1):c.1818+3A>G	not provided [RCV001203858]	uncertain significance	6	70252259	70252259	Human		name
38481218	CV959813	single nucleotide variant	NM_001851.6(COL9A1):c.1926+6T>G	not provided [RCV001235022]	uncertain significance	6	70242656	70242656	Human		name
38462803	CV959814	single nucleotide variant	NM_001851.6(COL9A1):c.1611+6T>C	not provided [RCV001229760]	uncertain significance	6	70255144	70255144	Human		name
126748304	CV991674	single nucleotide variant	NM_001851.6(COL9A1):c.2260-3C>T	not provided [RCV001306410]	uncertain significance	6	70234596	70234596	Human		name
127242809	CV1073932	single nucleotide variant	NM_001851.6(COL9A1):c.1558-18T>C	not provided [RCV001393405]	likely benign	6	70255221	70255221	Human		name
127303942	CV1117060	single nucleotide variant	NM_001851.6(COL9A1):c.1765-11T>G	not provided [RCV001462046]	likely benign	6	70252326	70252326	Human		name
127300691	CV1117062	single nucleotide variant	NM_001851.6(COL9A1):c.1504-17A>T	not provided [RCV001461154]	likely benign	6	70255407	70255407	Human		name
127299100	CV1117063	single nucleotide variant	NM_001851.6(COL9A1):c.1287+15T>C	not provided [RCV001478053]	likely benign	6	70268789	70268789	Human		name
127321512	CV1137997	single nucleotide variant	NM_001851.6(COL9A1):c.1872+15C>T	not provided [RCV001484551]	likely benign	6	70252105	70252105	Human		name
127291350	CV1155472	duplication	NM_001851.6(COL9A1):c.1342-14dup	COL9A1-related disorder [RCV003956128]\|not provided [RCV001510303]	benign\|likely benign	6	70263303	70263304	Human	1	name , alternate_id
150424854	CV1183865	single nucleotide variant	NM_001851.6(COL9A1):c.1065+84T>G	not provided [RCV001557216]	likely benign	6	70273963	70273963	Human		name
150413131	CV1190535	single nucleotide variant	NM_001851.6(COL9A1):c.1612-25A>G	not provided [RCV001567110]	likely benign	6	70255041	70255041	Human		name
150476092	CV1202338	single nucleotide variant	NM_001851.6(COL9A1):c.697-125G>A	not provided [RCV001589582]	likely benign	6	70283945	70283945	Human		name
150486408	CV1203291	single nucleotide variant	NM_001851.6(COL9A1):c.975+198A>G	not provided [RCV001591469]	likely benign	6	70280614	70280614	Human		name
150495604	CV1205048	single nucleotide variant	NM_001851.6(COL9A1):c.781-218C>T	not provided [RCV001593540]	likely benign	6	70283136	70283136	Human		name
150450907	CV1205326	single nucleotide variant	NM_001851.6(COL9A1):c.1665+86A>G	not provided [RCV001585226]	likely benign	6	70254877	70254877	Human		name
150453742	CV1205691	single nucleotide variant	NM_001851.6(COL9A1):c.300-136A>G	not provided [RCV001585592]	likely benign	6	70294699	70294699	Human		name
150478139	CV1207616	single nucleotide variant	NM_001851.6(COL9A1):c.1231-77T>C	not provided [RCV001589892]	likely benign	6	70268937	70268937	Human		name
150492244	CV1210498	single nucleotide variant	NM_001851.6(COL9A1):c.802-148C>G	not provided [RCV001592780]	likely benign	6	70281612	70281612	Human		name
150443541	CV1216512	single nucleotide variant	NM_001851.6(COL9A1):c.2112+69T>C	not provided [RCV001610811]	benign	6	70239185	70239185	Human		name
150444066	CV1216578	single nucleotide variant	NM_001851.6(COL9A1):c.1065+75A>T	not provided [RCV001610877]	benign	6	70273972	70273972	Human		name
150515435	CV1217491	single nucleotide variant	NM_001851.6(COL9A1):c.2503+69C>T	not provided [RCV001608397]	benign	6	70232514	70232514	Human		name
150437681	CV1220760	single nucleotide variant	NM_001851.6(COL9A1):c.1999-83T>C	not provided [RCV001609745]	benign	6	70241537	70241537	Human		name
150482605	CV1223452	single nucleotide variant	NM_001851.6(COL9A1):c.1665+54A>G	not provided [RCV001617165]	benign	6	70254909	70254909	Human		name
150507089	CV1226505	single nucleotide variant	NM_001851.6(COL9A1):c.2113-90C>T	not provided [RCV001635873]	benign	6	70235030	70235030	Human		name
150517318	CV1226767	single nucleotide variant	NM_001851.6(COL9A1):c.1342-27C>T	not provided [RCV001639861]	benign	6	70263324	70263324	Human		name
150517338	CV1226787	single nucleotide variant	NM_001851.6(COL9A1):c.2079+37A>G	not provided [RCV001639881]	benign	6	70240652	70240652	Human		name
150513168	CV1228920	single nucleotide variant	NM_001851.6(COL9A1):c.975+132T>A	not provided [RCV001637762]	benign	6	70280680	70280680	Human		name
150430025	CV1231901	single nucleotide variant	NM_001851.6(COL9A1):c.1231-79G>T	not provided [RCV001641162]	benign	6	70268939	70268939	Human		name
150440186	CV1233349	single nucleotide variant	NM_001851.6(COL9A1):c.2504-47A>G	not provided [RCV001645037]	benign	6	70226056	70226056	Human		name
150442278	CV1233671	single nucleotide variant	NM_001851.6(COL9A1):c.2080-90T>C	not provided [RCV001645359]	benign	6	70239376	70239376	Human		name
150493886	CV1238758	single nucleotide variant	NM_001851.6(COL9A1):c.1449+61G>A	not provided [RCV001655302]	benign	6	70260596	70260596	Human		name
150484579	CV1250054	single nucleotide variant	NM_001851.6(COL9A1):c.2080-30T>C	not provided [RCV001673667]	benign	6	70239316	70239316	Human		name
150474476	CV1251284	single nucleotide variant	NM_001851.6(COL9A1):c.1230+53C>T	not provided [RCV001671778]	benign	6	70269580	70269580	Human		name
150449440	CV1253976	single nucleotide variant	NM_001851.6(COL9A1):c.2259+55C>G	not provided [RCV001667613]	benign	6	70234739	70234739	Human		name
150499128	CV1254308	duplication	NM_001851.6(COL9A1):c.1503+37dup	not provided [RCV001676482]	benign	6	70256718	70256719	Human		name
150500454	CV1256101	duplication	NM_001851.6(COL9A1):c.1449+91dup	not provided [RCV001676725]	benign	6	70260548	70260549	Human		name
150474543	CV1272351	single nucleotide variant	NM_001851.6(COL9A1):c.1666-65C>T	not provided [RCV001695889]	benign	6	70254594	70254594	Human		name
150497058	CV1283481	single nucleotide variant	NM_001851.6(COL9A1):c.1288-65T>C	not provided [RCV001717789]	benign	6	70266835	70266835	Human		name
150439402	CV1287034	deletion	NM_001851.6(COL9A1):c.1503+49del	not provided [RCV001724949]	benign	6	70256719	70256719	Human		name
151723577	CV1425039	single nucleotide variant	NM_001851.6(COL9A1):c.1144-19C>T	not provided [RCV001891437]	likely benign\|uncertain significance	6	70270386	70270386	Human		name
151795255	CV1448905	single nucleotide variant	NM_001851.6(COL9A1):c.1666-16A>G	not provided [RCV001990447]	uncertain significance	6	70254545	70254545	Human		name
151890370	CV1511020	single nucleotide variant	NM_001851.6(COL9A1):c.1341+10A>G	not provided [RCV001963637]	likely benign\|uncertain significance	6	70266707	70266707	Human		name
151748697	CV1511898	single nucleotide variant	NM_001851.6(COL9A1):c.1341+18T>G	not provided [RCV001986046]	uncertain significance	6	70266699	70266699	Human		name
152174907	CV1520539	single nucleotide variant	NM_001851.6(COL9A1):c.1066-20T>C	not provided [RCV002184671]	benign	6	70272108	70272108	Human		name
152045540	CV1525741	single nucleotide variant	NM_001851.6(COL9A1):c.2504-19T>C	not provided [RCV002126615]	likely benign	6	70226028	70226028	Human		name
152169754	CV1529345	single nucleotide variant	NM_001851.6(COL9A1):c.1090-13T>G	not provided [RCV002161547]	likely benign	6	70271721	70271721	Human		name
152057630	CV1532478	single nucleotide variant	NM_001851.6(COL9A1):c.2034+14T>C	not provided [RCV002208283]	likely benign	6	70241405	70241405	Human		name
152064273	CV1535770	single nucleotide variant	NM_001851.6(COL9A1):c.1872+17G>A	not provided [RCV002168410]	likely benign	6	70252103	70252103	Human		name
152165534	CV1536618	single nucleotide variant	NM_001851.6(COL9A1):c.1927-13T>G	not provided [RCV002160469]	likely benign	6	70242048	70242048	Human		name
152168461	CV1548028	single nucleotide variant	NM_001851.6(COL9A1):c.1666-13G>A	not provided [RCV002161132]	likely benign	6	70254542	70254542	Human		name
152071209	CV1549051	single nucleotide variant	NM_001851.6(COL9A1):c.1143+14T>G	not provided [RCV002091613]	likely benign	6	70271641	70271641	Human		name
152151182	CV1550055	single nucleotide variant	NM_001851.6(COL9A1):c.1765-19T>C	not provided [RCV002201989]	likely benign	6	70252334	70252334	Human		name
152114645	CV1552396	single nucleotide variant	NM_001851.6(COL9A1):c.1066-12G>A	not provided [RCV002153499]	likely benign	6	70272100	70272100	Human		name
152082353	CV1558758	single nucleotide variant	NM_001851.6(COL9A1):c.2034+20T>C	not provided [RCV002149478]	likely benign	6	70241399	70241399	Human		name
152163923	CV1560313	single nucleotide variant	NM_001851.6(COL9A1):c.1030-10T>G	not provided [RCV002160144]	likely benign	6	70274092	70274092	Human		name
152158702	CV1564464	deletion	NM_001851.6(COL9A1):c.1395+20del	not provided [RCV002140549]	benign	6	70263224	70263224	Human		name
152051533	CV1569296	single nucleotide variant	NM_001851.6(COL9A1):c.1873-16G>A	not provided [RCV002207582]	likely benign	6	70242731	70242731	Human		name
152086920	CV1573979	single nucleotide variant	NM_001851.6(COL9A1):c.1029+19A>G	not provided [RCV002150057]	likely benign	6	70274700	70274700	Human		name
152167054	CV1577348	single nucleotide variant	NM_001851.6(COL9A1):c.1873-15T>C	not provided [RCV002204609]	likely benign	6	70242730	70242730	Human		name
152107477	CV1577914	single nucleotide variant	NM_001851.6(COL9A1):c.1666-12C>T	not provided [RCV002096375]	likely benign	6	70254541	70254541	Human		name
152165241	CV1578353	single nucleotide variant	NM_001851.6(COL9A1):c.1999-16A>G	not provided [RCV002160411]	likely benign	6	70241470	70241470	Human		name
152175920	CV1580183	single nucleotide variant	NM_001851.6(COL9A1):c.1926+12A>G	not provided [RCV002164058]	likely benign	6	70242650	70242650	Human		name
152110753	CV1581699	single nucleotide variant	NM_001851.6(COL9A1):c.2314+18G>T	not provided [RCV002096815]	likely benign	6	70234521	70234521	Human		name
152059751	CV1596135	single nucleotide variant	NM_001851.6(COL9A1):c.1030-20G>A	not provided [RCV002090110]	likely benign	6	70274102	70274102	Human		name
152126566	CV1614829	single nucleotide variant	NM_001851.6(COL9A1):c.1143+14T>C	not provided [RCV002082298]	likely benign	6	70271641	70271641	Human		name
152073215	CV1615385	deletion	NM_001851.6(COL9A1):c.1197+14del	not provided [RCV002091875]	likely benign	6	70270300	70270300	Human		name
152049837	CV1618642	single nucleotide variant	NM_001851.6(COL9A1):c.1231-19T>C	not provided [RCV002166731]\|not specified [RCV005057957]	likely benign	6	70268879	70268879	Human		name
152057364	CV1618936	deletion	NM_001851.6(COL9A1):c.2079+16del	not provided [RCV002127943]	benign	6	70240673	70240673	Human		name
152104170	CV1625756	single nucleotide variant	NM_001851.6(COL9A1):c.1198-11G>A	not provided [RCV002152174]	likely benign	6	70269676	70269676	Human		name
152124739	CV1630015	single nucleotide variant	NM_001851.6(COL9A1):c.1396-20T>C	not provided [RCV002154716]	likely benign	6	70260730	70260730	Human		name
152071373	CV1633767	single nucleotide variant	NM_001851.6(COL9A1):c.1231-11C>T	not provided [RCV002191828]	likely benign	6	70268871	70268871	Human		name
152035648	CV1635936	deletion	NM_001851.6(COL9A1):c.1818+19del	not provided [RCV002106932]	likely benign	6	70252243	70252243	Human		name
152027012	CV1635961	single nucleotide variant	NM_001851.6(COL9A1):c.1341+20A>T	not provided [RCV002084990]	likely benign	6	70266697	70266697	Human		name
152129075	CV1637412	single nucleotide variant	NM_001851.6(COL9A1):c.1926+13G>T	not provided [RCV002217815]	likely benign	6	70242649	70242649	Human		name
152034862	CV1639589	single nucleotide variant	NM_001851.6(COL9A1):c.1288-12T>G	not provided [RCV002187326]	likely benign	6	70266782	70266782	Human		name
152027983	CV1642590	single nucleotide variant	NM_001851.6(COL9A1):c.2113-12A>G	not provided [RCV002185683]	likely benign	6	70234952	70234952	Human		name
152146156	CV1649489	single nucleotide variant	NM_001851.6(COL9A1):c.2582-11G>A	not provided [RCV002121071]	likely benign	6	70217092	70217092	Human		name
152090434	CV1654838	single nucleotide variant	NM_001851.6(COL9A1):c.1288-16A>G	not provided [RCV002212649]	likely benign	6	70266786	70266786	Human		name
152072821	CV1657272	single nucleotide variant	NM_001851.6(COL9A1):c.1719+20C>T	not provided [RCV002210205]	likely benign	6	70254456	70254456	Human		name
156087610	CV1953313	single nucleotide variant	NM_001851.6(COL9A1):c.1231-17C>T	not provided [RCV002570113]	likely benign	6	70268877	70268877	Human		name
156224542	CV1956581	single nucleotide variant	NM_001851.6(COL9A1):c.1030-16C>G	not provided [RCV002575653]	likely benign	6	70274098	70274098	Human		name
156340135	CV1961625	single nucleotide variant	NM_001851.6(COL9A1):c.1287+16C>T	not provided [RCV002580460]\|not specified [RCV004526201]	benign\|likely benign	6	70268788	70268788	Human		name
156412063	CV1969166	single nucleotide variant	NM_001851.6(COL9A1):c.1342-18T>C	not provided [RCV002587694]	likely benign	6	70263315	70263315	Human		name
156400586	CV1982271	single nucleotide variant	NM_001851.6(COL9A1):c.1449+11G>A	not provided [RCV002635930]	uncertain significance	6	70260646	70260646	Human		name
156212008	CV1983451	single nucleotide variant	NM_001851.6(COL9A1):c.1231-17C>G	not provided [RCV002626111]	likely benign	6	70268877	70268877	Human		name
156331411	CV1991079	single nucleotide variant	NM_001851.6(COL9A1):c.1999-17T>C	not provided [RCV002630949]	likely benign	6	70241471	70241471	Human		name
156106911	CV1992332	single nucleotide variant	NM_001851.6(COL9A1):c.1342-15C>T	not provided [RCV002622421]	likely benign	6	70263312	70263312	Human		name
156206544	CV2011283	single nucleotide variant	NM_001851.6(COL9A1):c.2112+10G>T	not provided [RCV002700467]	likely benign	6	70239244	70239244	Human		name
156125317	CV2012354	single nucleotide variant	NM_001851.6(COL9A1):c.1819-11C>A	not provided [RCV002696197]	likely benign	6	70252184	70252184	Human		name
156001181	CV2018617	single nucleotide variant	NM_001851.6(COL9A1):c.1396-19C>A	not provided [RCV002690065]	likely benign	6	70260729	70260729	Human		name
156018208	CV2019185	single nucleotide variant	NM_001851.6(COL9A1):c.1230+20A>G	not provided [RCV002690869]	likely benign	6	70269613	70269613	Human		name
156010330	CV2020346	single nucleotide variant	NM_001851.6(COL9A1):c.1065+16G>T	not provided [RCV002734863]	likely benign	6	70274031	70274031	Human		name
156372617	CV2028216	single nucleotide variant	NM_001851.6(COL9A1):c.2581+15T>C	not provided [RCV002721649]	likely benign	6	70225917	70225917	Human		name
155962854	CV2034020	single nucleotide variant	NM_001851.6(COL9A1):c.1143+10A>C	COL9A1-related disorder [RCV003898517]\|not provided [RCV002731259]	likely benign	6	70271645	70271645	Human	1	name , alternate_id
156011138	CV2043057	single nucleotide variant	NM_001851.6(COL9A1):c.1927-13T>C	not provided [RCV002756691]	likely benign	6	70242048	70242048	Human		name
156238214	CV2052964	single nucleotide variant	NM_001851.6(COL9A1):c.1612-12G>A	not provided [RCV002791252]	likely benign	6	70255028	70255028	Human		name
156164216	CV2070873	single nucleotide variant	NM_001851.6(COL9A1):c.1030-17A>G	not provided [RCV002851326]	likely benign	6	70274099	70274099	Human		name
155908448	CV2072765	single nucleotide variant	NM_001851.6(COL9A1):c.1231-13C>T	not provided [RCV002837528]	likely benign	6	70268873	70268873	Human		name
155950040	CV2076314	single nucleotide variant	NM_001851.6(COL9A1):c.1872+15C>A	not provided [RCV002862299]	likely benign	6	70252105	70252105	Human		name
155908698	CV2077654	single nucleotide variant	NM_001851.6(COL9A1):c.2314+10T>C	not provided [RCV002858321]	likely benign	6	70234529	70234529	Human		name
155957289	CV2078397	single nucleotide variant	NM_001851.6(COL9A1):c.2504-13T>C	not provided [RCV002880834]	likely benign	6	70226022	70226022	Human		name
156305274	CV2079750	single nucleotide variant	NM_001851.6(COL9A1):c.1999-12T>G	not provided [RCV002857376]	likely benign	6	70241466	70241466	Human		name
156190298	CV2086721	single nucleotide variant	NM_001851.6(COL9A1):c.1818+12T>G	not provided [RCV002852115]	likely benign	6	70252250	70252250	Human		name
156113040	CV2088368	single nucleotide variant	NM_001851.6(COL9A1):c.2034+11T>C	not provided [RCV002889265]	likely benign	6	70241408	70241408	Human		name
155981162	CV2090441	single nucleotide variant	NM_001851.6(COL9A1):c.1999-13T>C	not provided [RCV002881940]	likely benign	6	70241467	70241467	Human		name
156136935	CV2097397	single nucleotide variant	NM_001851.6(COL9A1):c.1611+12G>A	not provided [RCV002890157]	likely benign	6	70255138	70255138	Human		name
156156052	CV2098741	single nucleotide variant	NM_001851.6(COL9A1):c.2582-13C>T	not provided [RCV002890817]	likely benign	6	70217094	70217094	Human		name
156296448	CV2149268	single nucleotide variant	NM_001851.6(COL9A1):c.1764+15A>C	not provided [RCV003010186]	likely benign	6	70253370	70253370	Human		name
156190536	CV2160820	single nucleotide variant	NM_001851.6(COL9A1):c.2259+17T>G	not provided [RCV003024115]	likely benign	6	70234777	70234777	Human		name
156135567	CV2169481	single nucleotide variant	NM_001851.6(COL9A1):c.1089+18A>G	not provided [RCV003022338]	likely benign	6	70272047	70272047	Human		name
156289542	CV2172513	single nucleotide variant	NM_001851.6(COL9A1):c.1719+11G>T	not provided [RCV003027622]	likely benign	6	70254465	70254465	Human		name
156296342	CV2179492	single nucleotide variant	NM_001851.6(COL9A1):c.1066-18T>C	not provided [RCV003027890]	likely benign	6	70272106	70272106	Human		name
156295656	CV2183312	single nucleotide variant	NM_001851.6(COL9A1):c.1558-11C>T	not provided [RCV003027861]	likely benign	6	70255214	70255214	Human		name
11543184	CV252455	single nucleotide variant	NM_001851.6(COL9A1):c.2259+32T>C	Epiphyseal dysplasia, multiple, 6 [RCV001660216]\|not provided [RCV001689832]\|not specified [RCV000242122]	benign	6	70234762	70234762	Human	1	name
11550451	CV252456	single nucleotide variant	NM_001851.6(COL9A1):c.2113-19G>A	not provided [RCV001522674]\|not specified [RCV000251773]	benign\|likely benign	6	70234959	70234959	Human		name
11547032	CV252457	single nucleotide variant	NM_001851.6(COL9A1):c.2034+19T>G	not provided [RCV001517960]\|not specified [RCV000247232]	benign	6	70241400	70241400	Human		name
11543254	CV252458	single nucleotide variant	NM_001851.6(COL9A1):c.2034+19T>C	Epiphyseal dysplasia, multiple, 6 [RCV001660215]\|not provided [RCV001511431]\|not specified [RCV000242216]	benign	6	70241400	70241400	Human	1	name
11543645	CV252460	single nucleotide variant	NM_001851.6(COL9A1):c.1765-21G>A	Epiphyseal dysplasia, multiple, 6 [RCV001660212]\|not provided [RCV000837501]\|not specified [RCV000242735]	benign	6	70252336	70252336	Human	1	name
11545857	CV252461	single nucleotide variant	NM_001851.6(COL9A1):c.1765-26T>C	Epiphyseal dysplasia, multiple, 6 [RCV001660213]\|not provided [RCV001709536]\|not specified [RCV000245704]	benign	6	70252341	70252341	Human	1	name
11546261	CV252462	single nucleotide variant	NM_001851.6(COL9A1):c.1720-24A>C	Epiphyseal dysplasia, multiple, 6 [RCV001660211]\|not provided [RCV001610620]\|not specified [RCV000246226]	benign	6	70253453	70253453	Human	1	name
11548848	CV252463	single nucleotide variant	NM_001851.6(COL9A1):c.1666-32G>A	not provided [RCV000839124]\|not specified [RCV000249631]	benign\|likely benign	6	70254561	70254561	Human		name
11547904	CV252464	single nucleotide variant	NM_001851.6(COL9A1):c.1612-26C>A	Epiphyseal dysplasia, multiple, 6 [RCV001660210]\|not provided [RCV001640517]\|not specified [RCV000248372]	benign	6	70255042	70255042	Human	1	name
11547976	CV252466	single nucleotide variant	NM_001851.6(COL9A1):c.1504-14T>A	not provided [RCV001517962]\|not specified [RCV000248474]	benign\|likely benign	6	70255404	70255404	Human		name
11550494	CV252467	single nucleotide variant	NM_001851.6(COL9A1):c.1504-32T>G	Epiphyseal dysplasia, multiple, 6 [RCV001660209]\|not provided [RCV001711685]\|not specified [RCV000251827]	benign	6	70255422	70255422	Human	1	name
11547149	CV252468	single nucleotide variant	NM_001851.6(COL9A1):c.1230+12T>C	Epiphyseal dysplasia, multiple, 6 [RCV001660208]\|not provided [RCV001511432]\|not specified [RCV000247388]	benign\|likely benign	6	70269621	70269621	Human	1	name
11543397	CV252469	single nucleotide variant	NM_001851.6(COL9A1):c.1197+11T>C	not provided [RCV001515347]\|not specified [RCV000242402]	benign\|likely benign\|conflicting interpretations of pathogenicity	6	70270303	70270303	Human		name
11549831	CV252473	single nucleotide variant	NM_001851.6(COL9A1):c.1066-36C>A	not provided [RCV000838324]\|not specified [RCV000250924]	benign	6	70272124	70272124	Human		name
401924960	CV2805100	single nucleotide variant	NM_001851.6(COL9A1):c.2504-11A>G	not specified [RCV003404919]	uncertain significance	6	70226020	70226020	Human		name
405087178	CV2862349	deletion	NM_001851.6(COL9A1):c.2582-10del	not provided [RCV003549645]	likely benign	6	70217091	70217091	Human		name
402485471	CV2865154	single nucleotide variant	NM_001851.6(COL9A1):c.1558-13T>A	not provided [RCV003544428]	likely benign	6	70255216	70255216	Human		name
405216594	CV2872552	single nucleotide variant	NM_001851.6(COL9A1):c.1197+15G>T	not provided [RCV003553302]	likely benign	6	70270299	70270299	Human		name
402465996	CV2917606	single nucleotide variant	NM_001851.6(COL9A1):c.2315-15T>C	not provided [RCV003569351]	likely benign	6	70232786	70232786	Human		name
402506605	CV2924088	single nucleotide variant	NM_001851.6(COL9A1):c.1197+11T>G	not provided [RCV003574520]	likely benign	6	70270303	70270303	Human		name
405036772	CV2932863	single nucleotide variant	NM_001851.6(COL9A1):c.2582-16C>A	not provided [RCV003578788]	likely benign	6	70217097	70217097	Human		name
405136580	CV2954304	single nucleotide variant	NM_001851.6(COL9A1):c.2314+17G>A	not provided [RCV003672867]	likely benign	6	70234522	70234522	Human		name
405118517	CV2955857	deletion	NM_001851.6(COL9A1):c.1999-17del	not provided [RCV003671212]	likely benign	6	70241471	70241471	Human		name
405118784	CV2957425	single nucleotide variant	NM_001851.6(COL9A1):c.1030-13T>C	not provided [RCV003667214]	likely benign	6	70274095	70274095	Human		name
405146393	CV2959966	single nucleotide variant	NM_001851.6(COL9A1):c.1819-10C>G	not provided [RCV003669728]	likely benign	6	70252183	70252183	Human		name
405149133	CV2960281	single nucleotide variant	NM_001851.6(COL9A1):c.1504-17A>G	not provided [RCV003669925]	likely benign	6	70255407	70255407	Human		name
405246777	CV2966452	single nucleotide variant	NM_001851.6(COL9A1):c.2503+17A>C	not provided [RCV003685508]	likely benign	6	70232566	70232566	Human		name
405245287	CV2969071	single nucleotide variant	NM_001851.6(COL9A1):c.2080-17T>A	not provided [RCV003685113]	likely benign	6	70239303	70239303	Human		name
405213677	CV2971349	single nucleotide variant	NM_001851.6(COL9A1):c.1872+20C>T	not provided [RCV003679737]	likely benign	6	70252100	70252100	Human		name
405216333	CV2978031	single nucleotide variant	NM_001851.6(COL9A1):c.1819-15C>A	not provided [RCV003709367]	likely benign	6	70252188	70252188	Human		name
405201643	CV2979139	single nucleotide variant	NM_001851.6(COL9A1):c.2315-12A>C	not provided [RCV003678241]	likely benign	6	70232783	70232783	Human		name
405119849	CV2993926	single nucleotide variant	NM_001851.6(COL9A1):c.1765-13A>T	not provided [RCV003723765]	likely benign	6	70252328	70252328	Human		name
405086732	CV3028535	single nucleotide variant	NM_001851.6(COL9A1):c.2112+17G>A	not provided [RCV003699454]	likely benign	6	70239237	70239237	Human		name
405060039	CV3029865	single nucleotide variant	NM_001851.6(COL9A1):c.1449+10T>A	not provided [RCV003697614]	likely benign	6	70260647	70260647	Human		name
402506677	CV3039188	single nucleotide variant	NM_001851.6(COL9A1):c.2582-16C>T	not provided [RCV003715267]	likely benign	6	70217097	70217097	Human		name
11604216	CV308580	single nucleotide variant	NM_001851.6(COL9A1):c.1720-11T>C	not provided [RCV001518624]	benign\|likely benign\|uncertain significance	6	70253440	70253440	Human		name
11635222	CV308607	duplication	NM_001851.6(COL9A1):c.1342-16dup	Multiple Epiphyseal Dysplasia, Dominant [RCV000322014]\|Stickler Syndrome, Recessive [RCV000376685]\|not provided [RCV002058629]	benign\|uncertain significance	6	70263312	70263313	Human	2	name
405118648	CV3131039	single nucleotide variant	NM_001851.6(COL9A1):c.1197+19G>C	not provided [RCV003837095]	likely benign	6	70270295	70270295	Human		name
405203074	CV3143929	single nucleotide variant	NM_001851.6(COL9A1):c.2315-13T>A	not provided [RCV003844719]	likely benign	6	70232784	70232784	Human		name
405142097	CV3155386	single nucleotide variant	NM_001851.6(COL9A1):c.1198-10T>C	not provided [RCV003855624]	likely benign	6	70269675	70269675	Human		name
405168760	CV3156938	single nucleotide variant	NM_001851.6(COL9A1):c.1144-14T>C	not provided [RCV003857642]	likely benign	6	70270381	70270381	Human		name
402498009	CV3179387	single nucleotide variant	NM_001851.6(COL9A1):c.1765-16T>C	not provided [RCV003877654]	likely benign	6	70252331	70252331	Human		name
402505300	CV3181546	single nucleotide variant	NM_001851.6(COL9A1):c.1143+13G>A	not provided [RCV003878380]	likely benign	6	70271642	70271642	Human		name
405275197	CV3199930	single nucleotide variant	NM_001851.6(COL9A1):c.781-137G>A	COL9A1-related disorder [RCV003973955]	likely benign	6	70283055	70283055	Human		name , trait , alternate_id
597656468	CV3552245	single nucleotide variant	NM_001851.6(COL9A1):c.1558-10C>T	Stickler syndrome, type 4 [RCV004821103]	uncertain significance	6	70255213	70255213	Human	1	name
12846017	CV369166	single nucleotide variant	NM_001851.6(COL9A1):c.2260-20T>C	not provided [RCV002522703]\|not specified [RCV000440857]	likely benign	6	70234613	70234613	Human		name
12843331	CV370510	single nucleotide variant	NM_001851.6(COL9A1):c.1030-20G>T	not provided [RCV001511436]\|not specified [RCV000436039]	benign	6	70274102	70274102	Human		name
597845909	CV3736391	single nucleotide variant	NM_001851.6(COL9A1):c.1065+11G>A	not provided [RCV005059969]	likely benign	6	70274036	70274036	Human		name
597889961	CV3739469	single nucleotide variant	NM_001851.6(COL9A1):c.1612-17T>C	not provided [RCV005071016]	likely benign	6	70255033	70255033	Human		name
597874658	CV3747462	single nucleotide variant	NM_001851.6(COL9A1):c.1450-15C>T	not provided [RCV005069146]	likely benign	6	70256836	70256836	Human		name
597948280	CV3759135	single nucleotide variant	NM_001851.6(COL9A1):c.1449+19T>C	not provided [RCV005078932]	likely benign	6	70260638	70260638	Human		name
597944250	CV3782789	single nucleotide variant	NM_001851.6(COL9A1):c.1611+12G>C	not provided [RCV005134329]	likely benign	6	70255138	70255138	Human		name
597903080	CV3784390	single nucleotide variant	NM_001851.6(COL9A1):c.1231-20G>T	not provided [RCV005127442]	likely benign	6	70268880	70268880	Human		name
597939356	CV3788521	single nucleotide variant	NM_001851.6(COL9A1):c.1818+10C>T	not provided [RCV005133196]	likely benign	6	70252252	70252252	Human		name
597917821	CV3789629	single nucleotide variant	NM_001851.6(COL9A1):c.1999-20T>G	not provided [RCV005129724]	likely benign	6	70241474	70241474	Human		name
597946287	CV3790093	single nucleotide variant	NM_001851.6(COL9A1):c.1066-14T>A	not provided [RCV005134794]	likely benign	6	70272102	70272102	Human		name
597962598	CV3791477	single nucleotide variant	NM_001851.6(COL9A1):c.2079+11T>C	not provided [RCV005139231]	likely benign	6	70240678	70240678	Human		name
597958547	CV3797264	single nucleotide variant	NM_001851.6(COL9A1):c.1719+11G>A	not provided [RCV005137951]	likely benign	6	70254465	70254465	Human		name
597951210	CV3798303	single nucleotide variant	NM_001851.6(COL9A1):c.2034+18A>C	not provided [RCV005136083]	likely benign	6	70241401	70241401	Human		name
597852113	CV3805643	single nucleotide variant	NM_001851.6(COL9A1):c.2259+11G>C	not provided [RCV005145573]	likely benign	6	70234783	70234783	Human		name
597896876	CV3806737	single nucleotide variant	NM_001851.6(COL9A1):c.2259+11G>A	not provided [RCV005152124]	likely benign	6	70234783	70234783	Human		name
597924980	CV3808717	single nucleotide variant	NM_001851.6(COL9A1):c.1719+15C>A	not provided [RCV005156231]	likely benign	6	70254461	70254461	Human		name
597920622	CV3811836	single nucleotide variant	NM_001851.6(COL9A1):c.2314+13C>T	not provided [RCV005155667]	likely benign	6	70234526	70234526	Human		name
597928372	CV3816129	single nucleotide variant	NM_001851.6(COL9A1):c.1557+12T>G	not provided [RCV005156710]	likely benign	6	70255325	70255325	Human		name
597857978	CV3817005	single nucleotide variant	NM_001851.6(COL9A1):c.1029+17G>T	not provided [RCV005146386]	likely benign	6	70274702	70274702	Human		name
597940348	CV3818839	single nucleotide variant	NM_001851.6(COL9A1):c.1197+18T>G	not provided [RCV005158845]	likely benign	6	70270296	70270296	Human		name
597855905	CV3821844	single nucleotide variant	NM_001851.6(COL9A1):c.1719+19A>T	not provided [RCV005174322]	likely benign	6	70254457	70254457	Human		name
597833505	CV3827668	single nucleotide variant	NM_001851.6(COL9A1):c.1342-14T>C	not provided [RCV005170758]	likely benign	6	70263311	70263311	Human		name
597908150	CV3829875	single nucleotide variant	NM_001851.6(COL9A1):c.1029+17G>A	not provided [RCV005182444]	likely benign	6	70274702	70274702	Human		name
597909626	CV3830077	single nucleotide variant	NM_001851.6(COL9A1):c.1395+15A>T	not provided [RCV005182647]	likely benign	6	70263229	70263229	Human		name
597909379	CV3853842	single nucleotide variant	NM_001851.6(COL9A1):c.1449+11G>C	not provided [RCV005203326]	likely benign	6	70260646	70260646	Human		name
597884163	CV3858044	single nucleotide variant	NM_001851.6(COL9A1):c.1144-20G>T	not provided [RCV005199472]	likely benign	6	70270387	70270387	Human		name
597934368	CV3858771	single nucleotide variant	NM_001851.6(COL9A1):c.2112+12G>A	not provided [RCV005207241]	likely benign	6	70239242	70239242	Human		name
598122521	CV3884452	single nucleotide variant	NM_001851.6(COL9A1):c.2259+15G>C	not specified [RCV005237144]	likely benign	6	70234779	70234779	Human		name
13539588	CV501413	single nucleotide variant	NM_001851.6(COL9A1):c.1089+11C>T	not specified [RCV000613489]	likely benign	6	70272054	70272054	Human		name
13529806	CV501776	single nucleotide variant	NM_001851.6(COL9A1):c.1342-15C>G	not provided [RCV002065246]\|not specified [RCV000600449]	likely benign	6	70263312	70263312	Human		name
13532337	CV502024	single nucleotide variant	NM_001851.6(COL9A1):c.1395+14T>A	not provided [RCV001518056]\|not specified [RCV000606765]	benign\|likely benign	6	70263230	70263230	Human		name
13539987	CV502028	single nucleotide variant	NM_001851.6(COL9A1):c.1144-20G>A	not provided [RCV001515911]	benign\|likely benign	6	70270387	70270387	Human		name
14744104	CV661839	single nucleotide variant	NM_001851.6(COL9A1):c.1665+20C>G	not provided [RCV000842535]	likely benign	6	70254943	70254943	Human		name
14744178	CV661846	single nucleotide variant	NM_001851.6(COL9A1):c.1665+13A>T	not provided [RCV000842581]\|not specified [RCV004702471]	benign\|likely benign	6	70254950	70254950	Human		name
14734342	CV661850	single nucleotide variant	NM_001851.6(COL9A1):c.1396-88T>C	not provided [RCV000837510]	benign	6	70260798	70260798	Human		name
14736969	CV661879	single nucleotide variant	NM_001851.6(COL9A1):c.1230+53C>A	not provided [RCV000838726]	benign	6	70269580	70269580	Human		name
14734322	CV662196	single nucleotide variant	NM_001851.6(COL9A1):c.1872+78T>C	not provided [RCV000837502]	benign	6	70252042	70252042	Human		name
14718774	CV662221	single nucleotide variant	NM_001851.6(COL9A1):c.801+306G>A	not provided [RCV000830499]	likely benign	6	70282592	70282592	Human		name
14737026	CV662259	single nucleotide variant	NM_001851.6(COL9A1):c.1999-95C>T	not provided [RCV000838753]	benign	6	70241549	70241549	Human		name
14738080	CV662270	single nucleotide variant	NM_001851.6(COL9A1):c.976-157T>C	not provided [RCV000839230]	likely benign	6	70274929	70274929	Human		name
14734189	CV662279	single nucleotide variant	NM_001851.6(COL9A1):c.976-173C>A	not provided [RCV000837437]	benign	6	70274945	70274945	Human		name
14734553	CV662280	single nucleotide variant	NM_001851.6(COL9A1):c.780+171T>G	not provided [RCV000837610]	benign	6	70283566	70283566	Human		name
14742466	CV662285	single nucleotide variant	NM_001851.6(COL9A1):c.1666-18T>C	not provided [RCV000841408]	likely benign	6	70254547	70254547	Human		name
14741665	CV662288	single nucleotide variant	NM_001851.6(COL9A1):c.1504-19A>C	not provided [RCV000840890]	benign\|likely benign	6	70255409	70255409	Human		name
14734203	CV662303	single nucleotide variant	NM_001851.6(COL9A1):c.1396-87C>T	not provided [RCV000837445]	likely benign	6	70260797	70260797	Human		name
14721650	CV662308	single nucleotide variant	NM_001851.6(COL9A1):c.1143+48G>T	not provided [RCV000831764]	likely benign	6	70271607	70271607	Human		name
14737862	CV662319	single nucleotide variant	NM_001851.6(COL9A1):c.801+154A>T	not provided [RCV000839113]	likely benign	6	70282744	70282744	Human		name
14712631	CV662323	single nucleotide variant	NM_001851.6(COL9A1):c.780+380G>A	not provided [RCV000828479]	benign	6	70283357	70283357	Human		name
26886867	CV851090	single nucleotide variant	NM_001851.6(COL9A1):c.1666-10T>G	not provided [RCV001055524]\|not specified [RCV004768827]	likely benign\|uncertain significance	6	70254539	70254539	Human		name
150340146	CV1168089	single nucleotide variant	NM_001851.6(COL9A1):c.1198-223G>A	not provided [RCV001535037]	benign	6	70269888	70269888	Human		name
150334107	CV1169199	single nucleotide variant	NM_001851.6(COL9A1):c.1720-147A>G	not provided [RCV001537629]	benign	6	70253576	70253576	Human		name
150336091	CV1171612	single nucleotide variant	NM_001851.6(COL9A1):c.2582-231A>T	not provided [RCV001540838]	likely benign	6	70217312	70217312	Human		name
150416766	CV1180210	single nucleotide variant	NM_001851.6(COL9A1):c.1665+142T>A	not provided [RCV001549814]	likely benign	6	70254821	70254821	Human		name
150417484	CV1180211	single nucleotide variant	NM_001851.6(COL9A1):c.1288-146T>A	not provided [RCV001550147]	likely benign	6	70266916	70266916	Human		name
150420161	CV1180213	microsatellite	NM_001851.6(COL9A1):c.89-91ATT[7]	not provided [RCV001551409]	likely benign	6	70300459	70300460	Human		name
150424192	CV1183863	single nucleotide variant	NM_001851.6(COL9A1):c.1342-207T>G	not provided [RCV001556340]	likely benign	6	70263504	70263504	Human		name
150424029	CV1183864	single nucleotide variant	NM_001851.6(COL9A1):c.1287+144G>T	not provided [RCV001556120]	likely benign	6	70268660	70268660	Human		name
150423435	CV1183866	single nucleotide variant	NM_001851.6(COL9A1):c.1030-144C>A	not provided [RCV001555317]	likely benign	6	70274226	70274226	Human		name
150429385	CV1187112	single nucleotide variant	NM_001851.6(COL9A1):c.1341+185T>C	not provided [RCV001563531]	likely benign	6	70266532	70266532	Human		name
150427448	CV1187113	single nucleotide variant	NM_001851.6(COL9A1):c.1198-164C>T	not provided [RCV001560934]	likely benign	6	70269829	70269829	Human		name
150404512	CV1193817	single nucleotide variant	NM_001851.6(COL9A1):c.1395+301C>T	not provided [RCV001571191]	likely benign	6	70262943	70262943	Human		name
150415956	CV1197566	single nucleotide variant	NM_001851.6(COL9A1):c.1143+191C>T	not provided [RCV001575626]	likely benign	6	70271464	70271464	Human		name
150439488	CV1201556	single nucleotide variant	NM_001851.6(COL9A1):c.1719+173T>G	not provided [RCV001583368]	likely benign	6	70254303	70254303	Human		name
150433897	CV1204213	duplication	NM_001851.6(COL9A1):c.1450-255dup	not provided [RCV001581962]	likely benign	6	70257048	70257049	Human		name
150496205	CV1206008	single nucleotide variant	NM_001851.6(COL9A1):c.1066-206A>G	not provided [RCV001593690]	likely benign	6	70272294	70272294	Human		name
150470543	CV1209340	single nucleotide variant	NM_001851.6(COL9A1):c.2034+158G>T	not provided [RCV001588451]	likely benign	6	70241261	70241261	Human		name
150490647	CV1210234	single nucleotide variant	NM_001851.6(COL9A1):c.1927-181A>T	not provided [RCV001592516]	likely benign	6	70242216	70242216	Human		name
150510476	CV1211717	single nucleotide variant	NM_001851.6(COL9A1):c.1765-146A>G	not provided [RCV001597612]	benign	6	70252461	70252461	Human		name
150509285	CV1214262	deletion	NM_001851.6(COL9A1):c.1030-104del	not provided [RCV001596783]	benign	6	70274186	70274186	Human		name
150448268	CV1216241	single nucleotide variant	NM_001851.6(COL9A1):c.1198-232T>C	not provided [RCV001611539]	benign	6	70269897	70269897	Human		name
150433794	CV1217014	single nucleotide variant	NM_001851.6(COL9A1):c.1450-228A>T	not provided [RCV001608916]	benign	6	70257049	70257049	Human		name
150440060	CV1221395	single nucleotide variant	NM_001851.6(COL9A1):c.1231-141G>A	not provided [RCV001610090]	benign	6	70269001	70269001	Human		name
150490953	CV1222677	single nucleotide variant	NM_001851.6(COL9A1):c.2113-182G>A	not provided [RCV001618737]	benign	6	70235122	70235122	Human		name
150491395	CV1225297	single nucleotide variant	NM_001851.6(COL9A1):c.2315-186A>C	not provided [RCV001618812]	benign	6	70232957	70232957	Human		name
150517205	CV1226653	deletion	NM_001851.6(COL9A1):c.1066-238del	not provided [RCV001639747]	benign	6	70272326	70272326	Human		name
150516503	CV1227096	single nucleotide variant	NM_001851.6(COL9A1):c.1230+211T>C	not provided [RCV001639194]	benign	6	70269422	70269422	Human		name
150514113	CV1228060	deletion	NM_001851.6(COL9A1):c.2035-161del	not provided [RCV001638338]	benign	6	70240894	70240894	Human		name
150508476	CV1229653	single nucleotide variant	NM_001851.6(COL9A1):c.2314+235G>T	not provided [RCV001636231]	benign	6	70234304	70234304	Human		name
150461364	CV1231467	single nucleotide variant	NM_001851.6(COL9A1):c.1144-177T>C	not provided [RCV001641034]	benign	6	70270544	70270544	Human		name
150433037	CV1231648	single nucleotide variant	NM_001851.6(COL9A1):c.1450-206T>C	not provided [RCV001643310]	benign	6	70257027	70257027	Human		name
150472438	CV1236340	single nucleotide variant	NM_001851.6(COL9A1):c.1998+220G>T	not provided [RCV001651425]	benign	6	70241744	70241744	Human		name
150504182	CV1240703	single nucleotide variant	NM_001851.6(COL9A1):c.1765-163G>A	not provided [RCV001657546]	benign	6	70252478	70252478	Human		name
150435539	CV1244439	single nucleotide variant	NM_001851.6(COL9A1):c.1720-100T>C	not provided [RCV001665430]	benign	6	70253529	70253529	Human		name
150484983	CV1250135	deletion	NM_001851.6(COL9A1):c.1449+108del	not provided [RCV001673748]	benign	6	70260549	70260549	Human		name
150464915	CV1252794	single nucleotide variant	NM_001851.6(COL9A1):c.1230+143G>A	not provided [RCV001670118]	benign	6	70269490	70269490	Human		name
150494474	CV1256470	single nucleotide variant	NM_001851.6(COL9A1):c.1719+122A>G	not provided [RCV001675435]	benign	6	70254354	70254354	Human		name
150479073	CV1258195	single nucleotide variant	NM_001851.6(COL9A1):c.2582-114C>T	not provided [RCV001685611]	benign	6	70217195	70217195	Human		name
150462083	CV1264685	single nucleotide variant	NM_001851.6(COL9A1):c.1395+133C>T	not provided [RCV001682309]	benign	6	70263111	70263111	Human		name
150457928	CV1269561	deletion	NM_001851.6(COL9A1):c.2112+115del	not provided [RCV001693101]	benign	6	70239139	70239139	Human		name
150470786	CV1269925	single nucleotide variant	NM_001851.6(COL9A1):c.1230+292C>T	not provided [RCV001695212]	benign	6	70269341	70269341	Human		name
150471841	CV1270156	single nucleotide variant	NM_001851.6(COL9A1):c.2314+119C>G	not provided [RCV001695444]	benign	6	70234420	70234420	Human		name
150463219	CV1273122	single nucleotide variant	NM_001851.6(COL9A1):c.2035-162A>G	not provided [RCV001693879]	benign	6	70240895	70240895	Human		name
150464521	CV1276411	single nucleotide variant	NM_001851.6(COL9A1):c.1998+224G>T	not provided [RCV001710356]	benign	6	70241740	70241740	Human		name
150490345	CV1279639	single nucleotide variant	NM_001851.6(COL9A1):c.2034+177A>G	not provided [RCV001716454]	benign	6	70241242	70241242	Human		name
150471451	CV1280985	single nucleotide variant	NM_001851.6(COL9A1):c.2034+243C>G	not provided [RCV001713189]	benign	6	70241176	70241176	Human		name
150439394	CV1287033	duplication	NM_001851.6(COL9A1):c.2112+105dup	not provided [RCV001724948]	benign	6	70239138	70239139	Human		name
150439509	CV1287050	single nucleotide variant	NM_001851.6(COL9A1):c.1719+238T>A	not provided [RCV001724965]	benign	6	70254238	70254238	Human		name
150439522	CV1287052	single nucleotide variant	NM_001851.6(COL9A1):c.1720-115A>G	not provided [RCV001724967]	benign	6	70253544	70253544	Human		name
150439538	CV1287054	single nucleotide variant	NM_001851.6(COL9A1):c.2080-118G>A	not provided [RCV001724969]	benign	6	70239404	70239404	Human		name
150444424	CV1288019	single nucleotide variant	NM_001851.6(COL9A1):c.2582-149C>G	not provided [RCV001725741]	benign	6	70217230	70217230	Human		name
152092533	CV1596163	microsatellite	NM_001851.6(COL9A1):c.877-27CT[2]	not provided [RCV002077902]	likely benign	6	70281059	70281062	Human		name
407459536	CV3496792	single nucleotide variant	NM_001851.6(COL9A1):c.1396-891A>T	Hereditary disease [RCV004698610]	likely benign	6	70261601	70261601	Human	1	name
14739214	CV661835	single nucleotide variant	NM_001851.6(COL9A1):c.2582-103G>A	not provided [RCV000839771]	likely benign	6	70217184	70217184	Human		name
14745636	CV661848	single nucleotide variant	NM_001851.6(COL9A1):c.1503+298T>C	not provided [RCV000843583]	benign	6	70256470	70256470	Human		name
14734339	CV661854	single nucleotide variant	NM_001851.6(COL9A1):c.1395+239A>G	not provided [RCV000837509]	benign	6	70263005	70263005	Human		name
14738250	CV661858	single nucleotide variant	NM_001851.6(COL9A1):c.1288-117A>G	not provided [RCV000839309]	likely benign	6	70266887	70266887	Human		name
14734331	CV661862	single nucleotide variant	NM_001851.6(COL9A1):c.1288-188A>C	not provided [RCV000837506]	benign	6	70266958	70266958	Human		name
14734328	CV661876	single nucleotide variant	NM_001851.6(COL9A1):c.1287+110A>G	not provided [RCV000837505]	benign	6	70268694	70268694	Human		name
14722091	CV661882	single nucleotide variant	NM_001851.6(COL9A1):c.1143+308C>G	not provided [RCV000831952]	benign	6	70271347	70271347	Human		name
14734556	CV661884	single nucleotide variant	NM_001851.6(COL9A1):c.1066-218A>T	not provided [RCV000837611]	benign	6	70272306	70272306	Human		name
14711132	CV661885	single nucleotide variant	NM_001851.6(COL9A1):c.1066-273A>C	not provided [RCV000827937]	benign	6	70272361	70272361	Human		name
14722088	CV661892	single nucleotide variant	NM_001851.6(COL9A1):c.1066-324G>A	not provided [RCV000831951]	benign	6	70272412	70272412	Human		name
14709687	CV661894	deletion	NM_001851.6(COL9A1):c.1029+170del	not provided [RCV000838323]	benign	6	70274549	70274549	Human		name
14734128	CV662195	single nucleotide variant	NM_001851.6(COL9A1):c.1927-243C>T	not provided [RCV000837409]	benign	6	70242278	70242278	Human		name
14734313	CV662199	single nucleotide variant	NM_001851.6(COL9A1):c.1449+245T>C	not provided [RCV000837499]	benign	6	70260412	70260412	Human		name
14734337	CV662200	single nucleotide variant	NM_001851.6(COL9A1):c.1342-200T>A	not provided [RCV000837508]	benign	6	70263497	70263497	Human		name
14745635	CV662202	single nucleotide variant	NM_001851.6(COL9A1):c.1144-264T>C	not provided [RCV000843582]	benign	6	70270631	70270631	Human		name
14712745	CV662207	single nucleotide variant	NM_001851.6(COL9A1):c.1066-316C>A	not provided [RCV000828520]	benign	6	70272404	70272404	Human		name
14709578	CV662209	deletion	NM_001851.6(COL9A1):c.1030-166del	not provided [RCV000837581]	benign	6	70274248	70274248	Human		name
14734192	CV662213	single nucleotide variant	NM_001851.6(COL9A1):c.1030-178T>C	not provided [RCV000837438]	benign	6	70274260	70274260	Human		name
14725791	CV662214	single nucleotide variant	NM_001851.6(COL9A1):c.1030-301G>A	not provided [RCV000833592]	benign	6	70274383	70274383	Human		name
14739551	CV662258	single nucleotide variant	NM_001851.6(COL9A1):c.2113-191T>C	not provided [RCV000839924]	likely benign	6	70235131	70235131	Human		name
14734316	CV662260	single nucleotide variant	NM_001851.6(COL9A1):c.1765-201C>T	not provided [RCV000837500]	benign	6	70252516	70252516	Human		name
14736135	CV662262	single nucleotide variant	NM_001851.6(COL9A1):c.1342-152T>G	not provided [RCV000838338]	benign	6	70263449	70263449	Human		name
14718758	CV662268	single nucleotide variant	NM_001851.6(COL9A1):c.1197+265C>T	not provided [RCV000830494]	benign	6	70270049	70270049	Human		name
14738341	CV662273	single nucleotide variant	NM_001851.6(COL9A1):c.2582-164T>C	not provided [RCV000839355]	likely benign	6	70217245	70217245	Human		name
14734452	CV662276	single nucleotide variant	NM_001851.6(COL9A1):c.1927-171C>T	not provided [RCV000837563]	likely benign	6	70242206	70242206	Human		name
14713457	CV662277	single nucleotide variant	NM_001851.6(COL9A1):c.1926+300T>C	not provided [RCV000828720]	benign	6	70242362	70242362	Human		name
14712635	CV662281	single nucleotide variant	NM_001851.6(COL9A1):c.1764+273A>T	not provided [RCV000828480]	likely benign	6	70253112	70253112	Human		name
14745632	CV662291	single nucleotide variant	NM_001851.6(COL9A1):c.1450-270C>T	not provided [RCV000843579]	benign	6	70257091	70257091	Human		name
14734334	CV662306	single nucleotide variant	NM_001851.6(COL9A1):c.1341+117T>A	not provided [RCV000837507]	benign	6	70266600	70266600	Human		name
14711130	CV662310	single nucleotide variant	NM_001851.6(COL9A1):c.1065+271C>T	not provided [RCV000827936]	benign	6	70273776	70273776	Human		name
150470559	CV1248017	microsatellite	NM_001851.6(COL9A1):c.2079+59TA[7]	not provided [RCV001671053]	benign	6	70240618	70240619	Human		name
150509838	CV1249983	duplication	NM_001851.6(COL9A1):c.241_242dup	not provided [RCV001659456]	benign	6	70216654	70216655	Human		name
150490650	CV1251064	microsatellite	NM_001851.6(COL9A1):c.2079+95AT[7]	not provided [RCV001674731]	benign	6	70240579	70240580	Human		name
405159198	CV3021309	microsatellite	NM_001851.6(COL9A1):c.2582-11GT[2]	not provided [RCV003703840]	likely benign	6	70217087	70217088	Human		name
150407331	CV1193816	microsatellite	NM_001851.6(COL9A1):c.1396-138TA[7]	not provided [RCV001572311]	likely benign	6	70260836	70260837	Human		name
150512965	CV1228854	microsatellite	NM_001851.6(COL9A1):c.2079+95AT[10]	not provided [RCV001637696]	benign	6	70240578	70240579	Human		name
150420170	CV1197567	microsatellite	NM_001851.6(COL9A1):c.1065+74TATT[5]	not provided [RCV001577495]	likely benign	6	70273942	70273953	Human		name
150507103	CV1211091	microsatellite	NM_001851.6(COL9A1):c.1065+74TATT[7]	not provided [RCV001596209]	benign	6	70273942	70273945	Human		name
150514020	CV1228015	microsatellite	NM_001851.6(COL9A1):c.2314+282AC[12]	not provided [RCV001638293]	benign	6	70234235	70234236	Human		name
150503270	CV1257757	microsatellite	NM_001851.6(COL9A1):c.1065+74TATT[9]	not provided [RCV001677445]	benign	6	70273941	70273942	Human		name
150478101	CV1271002	microsatellite	NM_001851.6(COL9A1):c.2314+282AC[10]	not provided [RCV001696438]	benign	6	70234236	70234237	Human		name
405192310	CV2965028	deletion	NM_001851.6(COL9A1):c.717_781-267del	not provided [RCV003677317]	likely pathogenic	6	70283185	70283800	Human		name
597831579	CV3830817	single nucleotide variant	NM_001851.6(COL9A1):c.9C>T (p.Thr3=)	not provided [RCV005170215]	likely benign	6	70302916	70302916	Human		name
14734277	CV662326	deletion	NM_001851.6(COL9A1):c.15-88_15-82del	not provided [RCV000837482]	benign	6	70302156	70302162	Human		name
126761596	CV1006849	deletion	NM_001851.6(COL9A1):c.300-19_300-4del	not provided [RCV001318685]	uncertain significance	6	70294567	70294582	Human		name
150494397	CV1204825	microsatellite	NM_001851.6(COL9A1):c.1065+74TATT[11]	not provided [RCV001593317]	likely benign	6	70273941	70273942	Human		name
150485542	CV1280771	microsatellite	NM_001851.6(COL9A1):c.1065+74TATT[10]	not provided [RCV001715613]	benign	6	70273941	70273942	Human		name
151850257	CV1367675	insertion	NM_001851.6(COL9A1):c.913-8_913-7insA	not provided [RCV001904001]	likely benign\|uncertain significance	6	70280881	70280882	Human		name
151736109	CV1461576	duplication	NM_001851.6(COL9A1):c.9dup (p.Cys4fs)	Connective tissue disorder [RCV002276946]\|not provided [RCV001967635]	pathogenic\|likely pathogenic	6	70302915	70302916	Human	1	name
156197621	CV2066669	duplication	NM_001851.6(COL9A1):c.1427_1449+17dup	not provided [RCV002828824]	uncertain significance	6	70260639	70260640	Human		name
13530688	CV501412	microsatellite	NM_001851.6(COL9A1):c.1342-27CTTTT[3]	not provided [RCV001522125]\|not specified [RCV000600792]	benign\|likely benign	6	70263314	70263315	Human		name
126740096	CV1006842	microsatellite	NM_001851.6(COL9A1):c.1029+3_1029+6del	not provided [RCV001314332]	uncertain significance	6	70274713	70274716	Human		name
150427555	CV1187115	duplication	NM_001851.6(COL9A1):c.15-153_15-149dup	not provided [RCV001561079]	likely benign	6	70302204	70302205	Human		name
150434623	CV1204394	duplication	NM_001851.6(COL9A1):c.15-153_15-152dup	not provided [RCV001582143]	likely benign	6	70302204	70302205	Human		name
150510744	CV1229237	deletion	NM_001851.6(COL9A1):c.15-132_15-131del	not provided [RCV001637165]	benign	6	70302205	70302206	Human		name
150457133	CV1248745	duplication	NM_001851.6(COL9A1):c.876+77_876+78dup	not provided [RCV001668921]	benign	6	70281300	70281301	Human		name
150439498	CV1287048	deletion	NM_001851.6(COL9A1):c.15-139_15-131del	not provided [RCV001724963]	benign	6	70302205	70302213	Human		name
151890770	CV1350641	deletion	NM_001851.6(COL9A1):c.1198-6_1198-2del	not provided [RCV002038901]	uncertain significance	6	70269667	70269671	Human		name
152127612	CV1581147	single nucleotide variant	NM_001851.6(COL9A1):c.99C>G (p.Val33=)	not provided [RCV002099037]	likely benign	6	70300376	70300376	Human		name
152137342	CV1603721	single nucleotide variant	NM_001851.6(COL9A1):c.57C>G (p.Pro19=)	not provided [RCV002218900]	likely benign	6	70302032	70302032	Human		name
152076523	CV1604547	deletion	NM_001851.6(COL9A1):c.299+14_299+15del	not provided [RCV002092297]	likely benign	6	70300028	70300029	Human		name
152122376	CV1613376	single nucleotide variant	NM_001851.6(COL9A1):c.78G>A (p.Lys26=)	not provided [RCV002154427]	likely benign	6	70302011	70302011	Human		name
155966275	CV1978080	deletion	NM_001851.6(COL9A1):c.913-31_913-16del	not provided [RCV002616969]	likely benign	6	70280890	70280905	Human		name
156207102	CV2074067	single nucleotide variant	NM_001851.6(COL9A1):c.7A>T (p.Thr3Ser)	not provided [RCV002829160]	uncertain significance	6	70302918	70302918	Human		name
156304713	CV2167421	single nucleotide variant	NM_001851.6(COL9A1):c.45T>C (p.Ser15=)	not provided [RCV003045723]	likely benign	6	70302044	70302044	Human		name
156230115	CV2176713	deletion	NM_001851.6(COL9A1):c.876+14_876+21del	not provided [RCV003059272]	likely benign	6	70281369	70281376	Human		name
405221855	CV2908125	microsatellite	NM_001851.6(COL9A1):c.2504-8_2504-4del	not provided [RCV003568472]	likely benign	6	70226013	70226017	Human		name
405268277	CV3198836	deletion	NM_001851.6(COL9A1):c.1342-8_1342-7del	COL9A1-related disorder [RCV003911956]	likely benign	6	70263304	70263305	Human		name , trait , alternate_id
408382762	CV3525630	single nucleotide variant	NM_001851.6(COL9A1):c.75C>G (p.Val25=)	not specified [RCV004766539]	likely benign	6	70302014	70302014	Human		name
126732509	CV991688	single nucleotide variant	NM_001851.6(COL9A1):c.6G>T (p.Lys2Asn)	Stickler syndrome [RCV005361513]\|not provided [RCV001304098]	uncertain significance	6	70302919	70302919	Human	1	name
127306747	CV1117073	single nucleotide variant	NM_001851.6(COL9A1):c.175C>T (p.Leu59=)	not provided [RCV001455632]	likely benign	6	70300167	70300167	Human		name
127292262	CV1117074	single nucleotide variant	NM_001851.6(COL9A1):c.135A>G (p.Pro45=)	not provided [RCV001458928]	likely benign	6	70300340	70300340	Human		name
127292521	CV1138005	single nucleotide variant	NM_001851.6(COL9A1):c.219T>C (p.Ala73=)	not provided [RCV001496510]	likely benign	6	70300123	70300123	Human		name
127311463	CV1155471	duplication	NM_001851.6(COL9A1):c.1818+7_1818+10dup	not provided [RCV001518613]\|not specified [RCV004782753]	benign	6	70252251	70252252	Human		name
151234691	CV1320416	single nucleotide variant	NM_001851.6(COL9A1):c.15G>T (p.Trp5Cys)	not provided [RCV001800040]	uncertain significance	6	70302074	70302074	Human		name
151808994	CV1384078	single nucleotide variant	NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)	Epiphyseal dysplasia, multiple, 6 [RCV002482695]\|not provided [RCV001878070]	pathogenic	6	70302911	70302911	Human	1	name
151807224	CV1462689	single nucleotide variant	NM_001851.6(COL9A1):c.11G>A (p.Cys4Tyr)	not provided [RCV001991484]	uncertain significance	6	70302914	70302914	Human		name
152139295	CV1562792	single nucleotide variant	NM_001851.6(COL9A1):c.198T>C (p.Asp66=)	not provided [RCV002100545]	likely benign	6	70300144	70300144	Human		name
152034081	CV1621471	single nucleotide variant	NM_001851.6(COL9A1):c.285C>T (p.Phe95=)	not provided [RCV002205288]	likely benign	6	70300057	70300057	Human		name
152065657	CV1641285	single nucleotide variant	NM_001851.6(COL9A1):c.252G>A (p.Gln84=)	not provided [RCV002209299]	likely benign	6	70300090	70300090	Human		name
156024447	CV2043383	single nucleotide variant	NM_001851.6(COL9A1):c.153A>G (p.Gln51=)	not provided [RCV002780821]	likely benign	6	70300322	70300322	Human		name
11642442	CV268850	single nucleotide variant	NM_001851.6(COL9A1):c.138G>A (p.Lys46=)	COL9A1-related disorder [RCV003920079]\|not provided [RCV000841029]\|not specified [RCV000375566]	benign\|likely benign	6	70300337	70300337	Human	1	name , alternate_id
402513070	CV2860108	single nucleotide variant	NM_001851.6(COL9A1):c.264G>A (p.Lys88=)	not provided [RCV003575264]	likely benign	6	70300078	70300078	Human		name
405219212	CV2903862	single nucleotide variant	NM_001851.6(COL9A1):c.111T>C (p.Ser37=)	not provided [RCV003568154]	likely benign	6	70300364	70300364	Human		name
596941259	CV3408132	single nucleotide variant	NM_001851.6(COL9A1):c.23C>T (p.Pro8Leu)	Retinal dystrophy [RCV004815803]	uncertain significance	6	70302066	70302066	Human	2	name
597846179	CV3736425	single nucleotide variant	NM_001851.6(COL9A1):c.228A>G (p.Arg76=)	not provided [RCV005060003]	likely benign	6	70300114	70300114	Human		name
597865569	CV3834328	single nucleotide variant	NM_001851.6(COL9A1):c.210T>C (p.Ser70=)	not provided [RCV005175696]	likely benign	6	70300132	70300132	Human		name
13837302	CV588591	microsatellite	NM_001851.6(COL9A1):c.1342-11_1342-3del	not provided [RCV000733686]	conflicting interpretations of pathogenicity\|uncertain significance	6	70263300	70263308	Human		name
126753955	CV1006845	single nucleotide variant	NM_001851.6(COL9A1):c.780G>T (p.Thr260=)	not provided [RCV001327401]	uncertain significance	6	70283737	70283737	Human		name
126734854	CV1027385	single nucleotide variant	NM_001851.6(COL9A1):c.912G>A (p.Pro304=)	COL9A1-related disorder [RCV004751962]\|not provided [RCV001350008]	uncertain significance	6	70281004	70281004	Human	1	name , alternate_id
126914475	CV1044327	single nucleotide variant	NM_001851.6(COL9A1):c.64T>C (p.Ser22Pro)	not provided [RCV001359555]	uncertain significance	6	70302025	70302025	Human		name
126910801	CV1053264	single nucleotide variant	NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys)	Hearing impairment [RCV001375406]\|not provided [RCV001871974]	uncertain significance	6	70302007	70302007	Human	2	name
127267749	CV1060843	single nucleotide variant	NM_001851.6(COL9A1):c.59G>A (p.Trp20Ter)	not provided [RCV001389050]	pathogenic	6	70302030	70302030	Human		name
127265068	CV1073938	single nucleotide variant	NM_001851.6(COL9A1):c.999C>T (p.Ser333=)	COL9A1-related disorder [RCV003953737]\|not provided [RCV001403477]	likely benign	6	70274749	70274749	Human	1	name , alternate_id
127234864	CV1073943	single nucleotide variant	NM_001851.6(COL9A1):c.609T>C (p.Ser203=)	not provided [RCV001396510]	likely benign	6	70294254	70294254	Human		name
127240171	CV1073944	single nucleotide variant	NM_001851.6(COL9A1):c.531T>C (p.Asp177=)	not provided [RCV001415505]	likely benign	6	70294332	70294332	Human		name
127256079	CV1095499	single nucleotide variant	NM_001851.6(COL9A1):c.921A>T (p.Ala307=)	not provided [RCV001426739]	likely benign	6	70280866	70280866	Human		name
127268346	CV1095500	single nucleotide variant	NM_001851.6(COL9A1):c.753T>C (p.Thr251=)	not provided [RCV001429926]	likely benign	6	70283764	70283764	Human		name
127272177	CV1095501	single nucleotide variant	NM_001851.6(COL9A1):c.678T>C (p.Asn226=)	not provided [RCV001431210]	likely benign	6	70294185	70294185	Human		name
127257708	CV1095502	single nucleotide variant	NM_001851.6(COL9A1):c.621G>A (p.Lys207=)	COL9A1-related disorder [RCV003900471]\|not provided [RCV001427165]	likely benign	6	70294242	70294242	Human	1	name , alternate_id
127328359	CV1117066	single nucleotide variant	NM_001851.6(COL9A1):c.879T>G (p.Gly293=)	not provided [RCV001469517]	likely benign	6	70281037	70281037	Human		name
127299451	CV1117068	single nucleotide variant	NM_001851.6(COL9A1):c.798C>T (p.Asp266=)	not provided [RCV001453593]	likely benign	6	70282901	70282901	Human		name
127308786	CV1117069	single nucleotide variant	NM_001851.6(COL9A1):c.609T>G (p.Ser203=)	not provided [RCV001463386]	likely benign	6	70294254	70294254	Human		name
127315234	CV1117070	single nucleotide variant	NM_001851.6(COL9A1):c.462A>T (p.Val154=)	not provided [RCV001465170]\|not specified [RCV004587161]	likely benign	6	70294401	70294401	Human		name
127308295	CV1117071	single nucleotide variant	NM_001851.6(COL9A1):c.456T>C (p.Ser152=)	not provided [RCV001463279]	likely benign	6	70294407	70294407	Human		name
127293564	CV1117072	single nucleotide variant	NM_001851.6(COL9A1):c.390T>C (p.Ile130=)	not provided [RCV001476620]	likely benign	6	70294473	70294473	Human		name
127324365	CV1138000	single nucleotide variant	NM_001851.6(COL9A1):c.930G>A (p.Pro310=)	not provided [RCV001505654]	likely benign	6	70280857	70280857	Human		name
127289291	CV1138001	single nucleotide variant	NM_001851.6(COL9A1):c.843C>T (p.Gly281=)	not provided [RCV001495581]	likely benign	6	70281423	70281423	Human		name
127322664	CV1138003	single nucleotide variant	NM_001851.6(COL9A1):c.453A>G (p.Gln151=)	not provided [RCV001505189]	likely benign	6	70294410	70294410	Human		name
127310641	CV1138004	single nucleotide variant	NM_001851.6(COL9A1):c.420G>A (p.Glu140=)	not provided [RCV001481189]	likely benign	6	70294443	70294443	Human		name
150422092	CV1193815	microsatellite	NM_001851.6(COL9A1):c.2079+80_2079+81del	not provided [RCV001570838]	likely benign	6	70240608	70240609	Human		name
150556903	CV1307627	single nucleotide variant	NM_001851.6(COL9A1):c.594C>T (p.Cys198=)	not provided [RCV001774905]	likely benign	6	70294269	70294269	Human		name
151728775	CV1335248	single nucleotide variant	NM_001851.6(COL9A1):c.348G>A (p.Thr116=)	not provided [RCV002074405]\|not specified [RCV001844566]	likely benign	6	70294515	70294515	Human		name
151832032	CV1343734	single nucleotide variant	NM_001851.6(COL9A1):c.88A>G (p.Arg30Gly)	COL9A1-related disorder [RCV003892949]\|not provided [RCV001920583]	uncertain significance	6	70302001	70302001	Human	1	name , alternate_id
151822837	CV1352109	single nucleotide variant	NM_001851.6(COL9A1):c.876C>T (p.Asp292=)	not provided [RCV002013561]	uncertain significance	6	70281390	70281390	Human		name
151809252	CV1417212	deletion	NM_001851.6(COL9A1):c.5_7del (p.Lys2del)	not provided [RCV002028807]	uncertain significance	6	70302918	70302920	Human		name
151884941	CV1428992	single nucleotide variant	NM_001851.6(COL9A1):c.870C>T (p.Gly290=)	not provided [RCV002000380]	likely benign\|uncertain significance	6	70281396	70281396	Human		name
151795537	CV1434480	single nucleotide variant	NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)	Epiphyseal dysplasia, multiple, 6 [RCV002482459]\|not provided [RCV001866647]	uncertain significance	6	70302016	70302016	Human	1	name
151731613	CV1512167	single nucleotide variant	NM_001851.6(COL9A1):c.79C>T (p.Arg27Cys)	not provided [RCV002021357]	uncertain significance	6	70302010	70302010	Human		name
152025820	CV1528055	single nucleotide variant	NM_001851.6(COL9A1):c.630C>G (p.Gly210=)	not provided [RCV002084592]	likely benign	6	70294233	70294233	Human		name
152151585	CV1530435	deletion	NM_001851.6(COL9A1):c.1342-18_1342-16del	not provided [RCV002102310]\|not specified [RCV004526902]	likely benign	6	70263313	70263315	Human		name
152094599	CV1533789	single nucleotide variant	NM_001851.6(COL9A1):c.969C>T (p.Gly323=)	not provided [RCV002151032]	likely benign	6	70280818	70280818	Human		name
152167309	CV1577413	single nucleotide variant	NM_001851.6(COL9A1):c.807T>C (p.Gly269=)	not provided [RCV002204674]	likely benign	6	70281459	70281459	Human		name
152124678	CV1580529	single nucleotide variant	NM_001851.6(COL9A1):c.522C>T (p.Ser174=)	not provided [RCV002082046]	likely benign	6	70294341	70294341	Human		name
152134160	CV1613312	single nucleotide variant	NM_001851.6(COL9A1):c.348G>T (p.Thr116=)	not provided [RCV002155926]	likely benign	6	70294515	70294515	Human		name
152154362	CV1643744	single nucleotide variant	NM_001851.6(COL9A1):c.648C>A (p.Gly216=)	not provided [RCV002122207]	likely benign	6	70294215	70294215	Human		name
152108833	CV1648366	single nucleotide variant	NM_001851.6(COL9A1):c.342G>A (p.Leu114=)	not provided [RCV002116278]	likely benign	6	70294521	70294521	Human		name
152138160	CV1657791	single nucleotide variant	NM_001851.6(COL9A1):c.969C>A (p.Gly323=)	not provided [RCV002177695]	likely benign	6	70280818	70280818	Human		name
152145306	CV1658316	deletion	NM_001851.6(COL9A1):c.2504-17_2504-13del	not provided [RCV002219950]	likely benign	6	70226022	70226026	Human		name
152103223	CV1667407	single nucleotide variant	NM_001851.6(COL9A1):c.729C>T (p.Asp243=)	not provided [RCV002214394]	uncertain significance	6	70283788	70283788	Human		name
155803315	CV1858046	single nucleotide variant	NM_001851.6(COL9A1):c.468A>T (p.Ser156=)	not provided [RCV002461896]	conflicting interpretations of pathogenicity\|uncertain significance	6	70294395	70294395	Human		name
156361155	CV1874237	single nucleotide variant	NM_001851.6(COL9A1):c.85C>A (p.Pro29Thr)	not provided [RCV003065625]	uncertain significance	6	70302004	70302004	Human		name
156409467	CV1874238	single nucleotide variant	NM_001851.6(COL9A1):c.82C>A (p.Arg28Ser)	not provided [RCV003071685]	uncertain significance	6	70302007	70302007	Human		name
156265011	CV1977707	single nucleotide variant	NM_001851.6(COL9A1):c.36T>A (p.Phe12Leu)	not provided [RCV002597906]	uncertain significance	6	70302053	70302053	Human		name
156091459	CV1984105	single nucleotide variant	NM_001851.6(COL9A1):c.38T>G (p.Val13Gly)	not provided [RCV002621874]	uncertain significance	6	70302051	70302051	Human		name
156291607	CV1998128	single nucleotide variant	NM_001851.6(COL9A1):c.936G>A (p.Lys312=)	not provided [RCV002670788]	likely benign	6	70280851	70280851	Human		name
156292963	CV1998354	single nucleotide variant	NM_001851.6(COL9A1):c.831C>T (p.Pro277=)	not provided [RCV002670841]	likely benign	6	70281435	70281435	Human		name
156042038	CV1999066	single nucleotide variant	NM_001851.6(COL9A1):c.372C>G (p.Leu124=)	not provided [RCV002659074]	likely benign	6	70294491	70294491	Human		name
156324327	CV2022490	single nucleotide variant	NM_001851.6(COL9A1):c.372C>T (p.Leu124=)	not provided [RCV002717306]	likely benign	6	70294491	70294491	Human		name
155922559	CV2023972	single nucleotide variant	NM_001851.6(COL9A1):c.819G>A (p.Glu273=)	not provided [RCV002750783]	likely benign	6	70281447	70281447	Human		name
156372969	CV2059299	single nucleotide variant	NM_001851.6(COL9A1):c.858A>G (p.Pro286=)	not provided [RCV002814448]	likely benign	6	70281408	70281408	Human		name
156130531	CV2072973	deletion	NM_001851.6(COL9A1):c.1396-19_1396-15del	not provided [RCV002825655]	uncertain significance	6	70260725	70260729	Human		name
156243599	CV2086096	single nucleotide variant	NM_001851.6(COL9A1):c.522C>G (p.Ser174=)	not provided [RCV002876686]	likely benign	6	70294341	70294341	Human		name
156314302	CV2120234	single nucleotide variant	NM_001851.6(COL9A1):c.900C>T (p.Pro300=)	not provided [RCV002962803]	likely benign	6	70281016	70281016	Human		name
156040083	CV2121445	single nucleotide variant	NM_001851.6(COL9A1):c.795C>A (p.Thr265=)	not provided [RCV002923880]	likely benign	6	70282904	70282904	Human		name
156121128	CV2128529	single nucleotide variant	NM_001851.6(COL9A1):c.909C>G (p.Pro303=)	not provided [RCV002953501]	likely benign	6	70281007	70281007	Human		name
156142300	CV2138057	single nucleotide variant	NM_001851.6(COL9A1):c.423A>G (p.Gln141=)	not provided [RCV002982357]	likely benign	6	70294440	70294440	Human		name
155970600	CV2139708	single nucleotide variant	NM_001851.6(COL9A1):c.867T>C (p.Asp289=)	not provided [RCV002995605]	likely benign	6	70281399	70281399	Human		name
156117854	CV2155206	single nucleotide variant	NM_001851.6(COL9A1):c.736C>A (p.Arg246=)	not provided [RCV003002858]	likely benign	6	70283781	70283781	Human		name
156113606	CV2177559	single nucleotide variant	NM_001851.6(COL9A1):c.585T>C (p.Phe195=)	not provided [RCV003055188]	likely benign	6	70294278	70294278	Human		name
11641582	CV270782	single nucleotide variant	NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)	COL9A1-related disorder [RCV003957459]\|not provided [RCV000725860]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70302033	70302033	Human	1	name , alternate_id
405172121	CV2864399	single nucleotide variant	NM_001851.6(COL9A1):c.738G>T (p.Arg246=)	not provided [RCV003542248]	likely benign	6	70283779	70283779	Human		name
405110251	CV2898947	single nucleotide variant	NM_001851.6(COL9A1):c.597C>T (p.Asn199=)	not provided [RCV003557775]	likely benign	6	70294266	70294266	Human		name
405187831	CV2917764	single nucleotide variant	NM_001851.6(COL9A1):c.567G>A (p.Arg189=)	not provided [RCV003564600]	likely benign	6	70294296	70294296	Human		name
402510565	CV2938735	single nucleotide variant	NM_001851.6(COL9A1):c.588T>C (p.Val196=)	not provided [RCV003662528]	likely benign	6	70294275	70294275	Human		name
402496172	CV2942779	single nucleotide variant	NM_001851.6(COL9A1):c.768A>G (p.Pro256=)	not provided [RCV003661137]	likely benign	6	70283749	70283749	Human		name
402486880	CV2945228	single nucleotide variant	NM_001851.6(COL9A1):c.723T>C (p.His241=)	not provided [RCV003660161]	likely benign	6	70283794	70283794	Human		name
402491821	CV2945737	single nucleotide variant	NM_001851.6(COL9A1):c.534C>T (p.Ser178=)	not provided [RCV003660618]	likely benign	6	70294329	70294329	Human		name
405227942	CV2963647	single nucleotide variant	NM_001851.6(COL9A1):c.837T>A (p.Pro279=)	not provided [RCV003681706]	likely benign	6	70281429	70281429	Human		name
405222133	CV2966352	single nucleotide variant	NM_001851.6(COL9A1):c.828T>C (p.Pro276=)	not provided [RCV003680831]	likely benign	6	70281438	70281438	Human		name
405189603	CV2974185	single nucleotide variant	NM_001851.6(COL9A1):c.657G>T (p.Val219=)	not provided [RCV003676970]	likely benign	6	70294206	70294206	Human		name
405234578	CV2975638	single nucleotide variant	NM_001851.6(COL9A1):c.840G>C (p.Pro280=)	not provided [RCV003682755]	likely benign	6	70281426	70281426	Human		name
11591843	CV300959	single nucleotide variant	NM_001851.6(COL9A1):c.71C>T (p.Ala24Val)	not provided [RCV002996082]	likely benign\|uncertain significance	6	70302018	70302018	Human		name
405202821	CV3038408	single nucleotide variant	NM_001851.6(COL9A1):c.984A>G (p.Thr328=)	not provided [RCV003707508]	likely benign	6	70274764	70274764	Human		name
405155940	CV3159366	single nucleotide variant	NM_001851.6(COL9A1):c.426T>G (p.Val142=)	not provided [RCV003856631]	likely benign	6	70294437	70294437	Human		name
402493178	CV3182670	single nucleotide variant	NM_001851.6(COL9A1):c.658C>T (p.Leu220=)	not provided [RCV003877157]	likely benign	6	70294205	70294205	Human		name
405263748	CV3189849	single nucleotide variant	NM_001851.6(COL9A1):c.654T>A (p.Ala218=)	COL9A1-related disorder [RCV003896897]\|not provided [RCV005064741]	likely benign	6	70294209	70294209	Human	1	name , alternate_id
405656663	CV3306322	single nucleotide variant	NM_001851.6(COL9A1):c.37G>A (p.Val13Met)	Inborn genetic diseases [RCV004437664]	uncertain significance	6	70302052	70302052	Human	1	name
12743014	CV361387	deletion	NM_001851.6(COL9A1):c.188del (p.Phe63fs)	not provided [RCV000415882]	pathogenic\|likely pathogenic	6	70300154	70300154	Human		name
597846357	CV3736217	single nucleotide variant	NM_001851.6(COL9A1):c.840G>A (p.Pro280=)	not provided [RCV005065565]	likely benign	6	70281426	70281426	Human		name
597903682	CV3738205	single nucleotide variant	NM_001851.6(COL9A1):c.459T>G (p.Val153=)	not provided [RCV005072627]	likely benign	6	70294404	70294404	Human		name
597846698	CV3746228	single nucleotide variant	NM_001851.6(COL9A1):c.468A>G (p.Ser156=)	not provided [RCV005060045]	likely benign	6	70294395	70294395	Human		name
597950791	CV3756324	single nucleotide variant	NM_001851.6(COL9A1):c.831C>G (p.Pro277=)	not provided [RCV005079381]	likely benign	6	70281435	70281435	Human		name
597938371	CV3760088	single nucleotide variant	NM_001851.6(COL9A1):c.708A>G (p.Gln236=)	not provided [RCV005077012]	likely benign	6	70283809	70283809	Human		name
597845019	CV3761502	single nucleotide variant	NM_001851.6(COL9A1):c.345G>A (p.Thr115=)	not provided [RCV005087102]	likely benign	6	70294518	70294518	Human		name
597954883	CV3786774	single nucleotide variant	NM_001851.6(COL9A1):c.726T>C (p.Cys242=)	not provided [RCV005121865]	likely benign	6	70283791	70283791	Human		name
597931428	CV3789470	single nucleotide variant	NM_001851.6(COL9A1):c.948A>G (p.Pro316=)	not provided [RCV005131751]	likely benign	6	70280839	70280839	Human		name
597946144	CV3790059	single nucleotide variant	NM_001851.6(COL9A1):c.360T>C (p.Thr120=)	not provided [RCV005134760]	likely benign	6	70294503	70294503	Human		name
597968883	CV3791135	single nucleotide variant	NM_001851.6(COL9A1):c.921A>C (p.Ala307=)	not provided [RCV005141167]	likely benign	6	70280866	70280866	Human		name
597975469	CV3799158	single nucleotide variant	NM_001851.6(COL9A1):c.642T>C (p.Ile214=)	not provided [RCV005144554]	likely benign	6	70294221	70294221	Human		name
597973506	CV3820522	single nucleotide variant	NM_001851.6(COL9A1):c.966T>C (p.Pro322=)	not provided [RCV005168039]	likely benign	6	70280821	70280821	Human		name
597832609	CV3831325	single nucleotide variant	NM_001851.6(COL9A1):c.816T>G (p.Gly272=)	not provided [RCV005170528]	likely benign	6	70281450	70281450	Human		name
597956900	CV3838339	single nucleotide variant	NM_001851.6(COL9A1):c.810C>G (p.Pro270=)	not provided [RCV005191714]	likely benign	6	70281456	70281456	Human		name
13211888	CV425702	deletion	NM_001851.6(COL9A1):c.171del (p.Phe57fs)	not provided [RCV000498043]	likely pathogenic	6	70300171	70300171	Human		name
13526438	CV501409	microsatellite	NM_001851.6(COL9A1):c.2034+13_2034+15del	not provided [RCV001502158]	likely benign	6	70241404	70241406	Human		name
13531286	CV501424	single nucleotide variant	NM_001851.6(COL9A1):c.645T>C (p.Asp215=)	not provided [RCV000939790]	likely benign	6	70294218	70294218	Human		name
13533797	CV502034	single nucleotide variant	NM_001851.6(COL9A1):c.831C>A (p.Pro277=)	Inborn genetic diseases [RCV004975715]\|not provided [RCV000880023]\|not specified [RCV000607197]	benign\|likely benign	6	70281435	70281435	Human	1	name
13536737	CV502035	single nucleotide variant	NM_001851.6(COL9A1):c.795C>G (p.Thr265=)	COL9A1-related disorder [RCV003928028]\|not provided [RCV001405992]\|not specified [RCV000609424]	benign\|likely benign	6	70282904	70282904	Human	1	name , alternate_id
13541249	CV502044	single nucleotide variant	NM_001851.6(COL9A1):c.624A>G (p.Pro208=)	not specified [RCV000615893]	likely benign	6	70294239	70294239	Human		name
13540573	CV502046	single nucleotide variant	NM_001851.6(COL9A1):c.558C>T (p.Gly186=)	COL9A1-related disorder [RCV004751632]\|not provided [RCV000933820]\|not specified [RCV000614887]	likely benign	6	70294305	70294305	Human	1	name , alternate_id
13832931	CV584157	single nucleotide variant	NM_001851.6(COL9A1):c.462A>G (p.Val154=)	not provided [RCV000728039]	conflicting interpretations of pathogenicity\|uncertain significance	6	70294401	70294401	Human		name
13836118	CV587387	single nucleotide variant	NM_001851.6(COL9A1):c.333C>T (p.Tyr111=)	not provided [RCV000732123]	conflicting interpretations of pathogenicity\|uncertain significance	6	70294530	70294530	Human		name
15158887	CV750162	single nucleotide variant	NM_001851.6(COL9A1):c.510G>A (p.Ser170=)	not provided [RCV000925168]\|not specified [RCV003994170]	likely benign	6	70294353	70294353	Human		name
26884515	CV832307	single nucleotide variant	NM_001851.6(COL9A1):c.77A>G (p.Lys26Arg)	not provided [RCV001051918]	uncertain significance	6	70302012	70302012	Human		name
8632147	CV87353	single nucleotide variant	NM_001851.4(COL9A1):c.903G>A (p.Pro301=)	Malignant melanoma [RCV000067444]	not provided	6	70281013	70281013	Human		name
38474538	CV933438	single nucleotide variant	NM_001851.6(COL9A1):c.80G>A (p.Arg27His)	not provided [RCV001203859]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70302009	70302009	Human		name
38488048	CV945145	single nucleotide variant	NM_001851.6(COL9A1):c.83G>A (p.Arg28His)	COL9A1-related disorder [RCV003973157]\|not provided [RCV001237861]	likely benign\|uncertain significance	6	70302006	70302006	Human	1	name , alternate_id
38459661	CV954864	single nucleotide variant	NM_001851.6(COL9A1):c.38T>C (p.Val13Ala)	not provided [RCV001246600]	conflicting interpretations of pathogenicity\|uncertain significance	6	70302051	70302051	Human		name
126738753	CV1006831	single nucleotide variant	NM_001851.6(COL9A1):c.2040C>G (p.Ala680=)	not provided [RCV001314152]	likely benign\|uncertain significance	6	70240728	70240728	Human		name
126768784	CV1027387	single nucleotide variant	NM_001851.6(COL9A1):c.175C>A (p.Leu59Met)	not provided [RCV001343553]	uncertain significance	6	70300167	70300167	Human		name
126918800	CV1044317	single nucleotide variant	NM_001851.6(COL9A1):c.1728T>A (p.Pro576=)	not provided [RCV001372871]	likely benign\|uncertain significance	6	70253421	70253421	Human		name
127246602	CV1060842	duplication	NM_001851.6(COL9A1):c.848dup (p.Gly284fs)	not provided [RCV001384576]	pathogenic	6	70281417	70281418	Human		name
127239379	CV1073927	single nucleotide variant	NM_001851.6(COL9A1):c.2613T>C (p.Asn871=)	not provided [RCV001397534]	likely benign	6	70217050	70217050	Human		name
127239295	CV1073928	single nucleotide variant	NM_001851.6(COL9A1):c.2535T>C (p.Pro845=)	not provided [RCV001397514]	likely benign	6	70225978	70225978	Human		name
127240716	CV1073929	single nucleotide variant	NM_001851.6(COL9A1):c.2403C>T (p.Pro801=)	not provided [RCV001397821]	likely benign	6	70232683	70232683	Human		name
127253827	CV1073931	single nucleotide variant	NM_001851.6(COL9A1):c.1620A>G (p.Pro540=)	not provided [RCV001418406]	likely benign	6	70255008	70255008	Human		name
127232964	CV1073933	single nucleotide variant	NM_001851.6(COL9A1):c.1554T>C (p.Asp518=)	COL9A1-related disorder [RCV003900428]\|not provided [RCV001413693]	likely benign	6	70255340	70255340	Human	1	name , alternate_id
127249078	CV1073935	single nucleotide variant	NM_001851.6(COL9A1):c.1104A>T (p.Thr368=)	not provided [RCV001417261]	likely benign	6	70271694	70271694	Human		name
127274111	CV1073936	single nucleotide variant	NM_001851.6(COL9A1):c.1083A>C (p.Gly361=)	not provided [RCV001406244]	likely benign	6	70272071	70272071	Human		name
127253162	CV1073937	single nucleotide variant	NM_001851.6(COL9A1):c.1011T>C (p.Ile337=)	not provided [RCV001400475]	likely benign	6	70274737	70274737	Human		name
127282343	CV1095495	single nucleotide variant	NM_001851.6(COL9A1):c.2643G>A (p.Gly881=)	not provided [RCV001447755]	likely benign	6	70217020	70217020	Human		name
127270558	CV1095496	single nucleotide variant	NM_001851.6(COL9A1):c.2520G>A (p.Lys840=)	not provided [RCV001441494]	likely benign	6	70225993	70225993	Human		name
127244981	CV1095498	single nucleotide variant	NM_001851.6(COL9A1):c.1608C>T (p.Asp536=)	not provided [RCV001435138]	likely benign	6	70255153	70255153	Human		name
127314319	CV1117058	single nucleotide variant	NM_001851.6(COL9A1):c.2553C>T (p.Asn851=)	not provided [RCV001464918]	likely benign	6	70225960	70225960	Human		name
127320574	CV1117059	single nucleotide variant	NM_001851.6(COL9A1):c.1803A>G (p.Gly601=)	not provided [RCV001466951]	likely benign	6	70252277	70252277	Human		name
127334866	CV1117061	single nucleotide variant	NM_001851.6(COL9A1):c.1515A>G (p.Gly505=)	not provided [RCV001473895]	likely benign	6	70255379	70255379	Human		name
127289890	CV1137992	single nucleotide variant	NM_001851.6(COL9A1):c.2754G>A (p.Gly918=)	COL9A1-related disorder [RCV003956094]\|not provided [RCV001495803]	likely benign	6	70216909	70216909	Human	1	name , alternate_id
127330585	CV1137993	single nucleotide variant	NM_001851.6(COL9A1):c.2415A>G (p.Gly805=)	not provided [RCV001488234]	likely benign	6	70232671	70232671	Human		name
127304027	CV1137994	single nucleotide variant	NM_001851.6(COL9A1):c.2232C>T (p.Thr744=)	not provided [RCV001499531]	likely benign	6	70234821	70234821	Human		name
127335269	CV1137995	single nucleotide variant	NM_001851.6(COL9A1):c.2073G>A (p.Gly691=)	not provided [RCV001491412]	likely benign	6	70240695	70240695	Human		name
127329361	CV1137996	single nucleotide variant	NM_001851.6(COL9A1):c.1912C>T (p.Leu638=)	not provided [RCV001487370]	likely benign	6	70242676	70242676	Human		name
127336263	CV1137998	single nucleotide variant	NM_001851.6(COL9A1):c.1317T>C (p.Gly439=)	not provided [RCV001492048]	likely benign	6	70266741	70266741	Human		name
127324338	CV1137999	single nucleotide variant	NM_001851.6(COL9A1):c.1167A>T (p.Pro389=)	not provided [RCV001485459]	likely benign	6	70270344	70270344	Human		name
150417521	CV1193818	single nucleotide variant	NM_001851.6(COL9A1):c.116G>T (p.Gly39Val)	not provided [RCV001568802]	uncertain significance	6	70300359	70300359	Human		name
150535106	CV1306930	single nucleotide variant	NM_001851.6(COL9A1):c.252G>T (p.Gln84His)	not provided [RCV001758984]	uncertain significance	6	70300090	70300090	Human		name
150533096	CV1311006	single nucleotide variant	NM_001851.6(COL9A1):c.194T>C (p.Val65Ala)	Inborn genetic diseases [RCV003163915]\|not provided [RCV001776741]	uncertain significance	6	70300148	70300148	Human	1	name
151766756	CV1348637	single nucleotide variant	NM_001851.6(COL9A1):c.2457G>A (p.Pro819=)	not provided [RCV001895937]	likely benign\|uncertain significance	6	70232629	70232629	Human		name
151884684	CV1366875	deletion	NM_001851.6(COL9A1):c.403del (p.Asp135fs)	not provided [RCV001941782]	pathogenic	6	70294460	70294460	Human		name
151884853	CV1366944	duplication	NM_001851.6(COL9A1):c.902dup (p.Pro306fs)	not provided [RCV001941820]	pathogenic\|likely pathogenic	6	70281013	70281014	Human		name
151772922	CV1367282	single nucleotide variant	NM_001851.6(COL9A1):c.133C>A (p.Pro45Thr)	not provided [RCV001988414]	uncertain significance	6	70300342	70300342	Human		name
151858788	CV1377683	single nucleotide variant	NM_001851.6(COL9A1):c.143G>T (p.Arg48Met)	not provided [RCV001938280]	uncertain significance	6	70300332	70300332	Human		name
151737119	CV1380060	single nucleotide variant	NM_001851.6(COL9A1):c.1458G>C (p.Arg486=)	COL9A1-related disorder [RCV003893016]\|not provided [RCV001946708]	likely benign	6	70256813	70256813	Human	1	name , alternate_id
151817364	CV1385607	single nucleotide variant	NM_001851.6(COL9A1):c.1020G>A (p.Lys340=)	not provided [RCV002013036]	likely benign\|uncertain significance	6	70274728	70274728	Human		name
151837214	CV1392156	single nucleotide variant	NM_001851.6(COL9A1):c.123T>A (p.Asn41Lys)	not provided [RCV001902426]	uncertain significance	6	70300352	70300352	Human		name
151799573	CV1396548	single nucleotide variant	NM_001851.6(COL9A1):c.167G>A (p.Gly56Glu)	not provided [RCV001917587]	uncertain significance	6	70300175	70300175	Human		name
151847089	CV1428100	single nucleotide variant	NM_001851.6(COL9A1):c.131G>C (p.Cys44Ser)	not provided [RCV001957479]	uncertain significance	6	70300344	70300344	Human		name
151789364	CV1450955	single nucleotide variant	NM_001851.6(COL9A1):c.101A>G (p.Asn34Ser)	not provided [RCV001931257]	uncertain significance	6	70300374	70300374	Human		name
151829071	CV1465675	single nucleotide variant	NM_001851.6(COL9A1):c.1818G>A (p.Pro606=)	not provided [RCV002050544]	uncertain significance	6	70252262	70252262	Human		name
151732915	CV1497753	single nucleotide variant	NM_001851.6(COL9A1):c.269G>A (p.Gly90Glu)	not provided [RCV001946239]	uncertain significance	6	70300073	70300073	Human		name
151837830	CV1501259	single nucleotide variant	NM_001851.6(COL9A1):c.163C>T (p.Pro55Ser)	not provided [RCV001977340]	uncertain significance	6	70300312	70300312	Human		name
152045350	CV1525704	single nucleotide variant	NM_001851.6(COL9A1):c.2205G>A (p.Arg735=)	not provided [RCV002126592]	likely benign	6	70234848	70234848	Human		name
152045983	CV1525789	single nucleotide variant	NM_001851.6(COL9A1):c.1626G>A (p.Val542=)	not provided [RCV002126654]	likely benign	6	70255002	70255002	Human		name
152083360	CV1526350	single nucleotide variant	NM_001851.6(COL9A1):c.2739A>G (p.Arg913=)	not provided [RCV002170837]	likely benign	6	70216924	70216924	Human		name
152141397	CV1526499	single nucleotide variant	NM_001851.6(COL9A1):c.2253C>A (p.Gly751=)	not provided [RCV002084203]	likely benign	6	70234800	70234800	Human		name
152091805	CV1528855	single nucleotide variant	NM_001851.6(COL9A1):c.1593T>G (p.Pro531=)	not provided [RCV002094285]	likely benign	6	70255168	70255168	Human		name
152166524	CV1532821	single nucleotide variant	NM_001851.6(COL9A1):c.1491T>C (p.Leu497=)	not provided [RCV002204464]	likely benign	6	70256780	70256780	Human		name
152064467	CV1535808	single nucleotide variant	NM_001851.6(COL9A1):c.1326A>G (p.Gly442=)	not provided [RCV002168442]	likely benign	6	70266732	70266732	Human		name
152165437	CV1536535	single nucleotide variant	NM_001851.6(COL9A1):c.1185C>T (p.Pro395=)	not provided [RCV002160451]	likely benign	6	70270326	70270326	Human		name
152109533	CV1536818	single nucleotide variant	NM_001851.6(COL9A1):c.1083A>G (p.Gly361=)	not provided [RCV002215287]	likely benign	6	70272071	70272071	Human		name
152032997	CV1542567	single nucleotide variant	NM_001851.6(COL9A1):c.1830G>A (p.Gly610=)	not provided [RCV002106480]	likely benign	6	70252162	70252162	Human		name
152035641	CV1545789	single nucleotide variant	NM_001851.6(COL9A1):c.1519C>A (p.Arg507=)	not provided [RCV002164893]	likely benign	6	70255375	70255375	Human		name
152071269	CV1552068	single nucleotide variant	NM_001851.6(COL9A1):c.1059A>G (p.Gly353=)	not provided [RCV002148111]	likely benign	6	70274053	70274053	Human		name
152127545	CV1554238	single nucleotide variant	NM_001851.6(COL9A1):c.1101G>A (p.Gly367=)	not provided [RCV002176366]	likely benign	6	70271697	70271697	Human		name
152040594	CV1561773	single nucleotide variant	NM_001851.6(COL9A1):c.1215T>C (p.His405=)	not provided [RCV002188200]	likely benign	6	70269648	70269648	Human		name
152056712	CV1567156	single nucleotide variant	NM_001851.6(COL9A1):c.2253C>T (p.Gly751=)	not provided [RCV002146322]	likely benign	6	70234800	70234800	Human		name
152174570	CV1567304	single nucleotide variant	NM_001851.6(COL9A1):c.1530A>G (p.Pro510=)	not provided [RCV002163199]	likely benign	6	70255364	70255364	Human		name
152083808	CV1576897	single nucleotide variant	NM_001851.6(COL9A1):c.1179T>C (p.Pro393=)	not provided [RCV002193368]	likely benign	6	70270332	70270332	Human		name
152145172	CV1582627	single nucleotide variant	NM_001851.6(COL9A1):c.1155G>A (p.Gly385=)	not provided [RCV002201128]	likely benign	6	70270356	70270356	Human		name
152129926	CV1583977	single nucleotide variant	NM_001851.6(COL9A1):c.1860C>T (p.Pro620=)	not provided [RCV002199184]	likely benign	6	70252132	70252132	Human		name
152099535	CV1595590	single nucleotide variant	NM_001851.6(COL9A1):c.1308A>G (p.Gly436=)	not provided [RCV002213816]	likely benign	6	70266750	70266750	Human		name
152165756	CV1597264	single nucleotide variant	NM_001851.6(COL9A1):c.1596G>A (p.Gly532=)	not provided [RCV002124083]	likely benign	6	70255165	70255165	Human		name
152095389	CV1597338	single nucleotide variant	NM_001851.6(COL9A1):c.1182C>G (p.Gly394=)	not provided [RCV002114632]	likely benign	6	70270329	70270329	Human		name
152072386	CV1597737	single nucleotide variant	NM_001851.6(COL9A1):c.1830G>T (p.Gly610=)	not provided [RCV002169468]	likely benign	6	70252162	70252162	Human		name
152109316	CV1604270	single nucleotide variant	NM_001851.6(COL9A1):c.2040C>A (p.Ala680=)	not provided [RCV002080032]	likely benign	6	70240728	70240728	Human		name
152040000	CV1608759	single nucleotide variant	NM_001851.6(COL9A1):c.2097T>A (p.Pro699=)	not provided [RCV002107595]	likely benign	6	70239269	70239269	Human		name
152094376	CV1609329	single nucleotide variant	NM_001851.6(COL9A1):c.1422C>T (p.Thr474=)	COL9A1-related disorder [RCV004752139]\|not provided [RCV002172252]	likely benign\|conflicting interpretations of pathogenicity	6	70260684	70260684	Human	1	name , alternate_id
152145227	CV1616477	single nucleotide variant	NM_001851.6(COL9A1):c.1257C>T (p.Arg419=)	not provided [RCV002120929]	likely benign	6	70268834	70268834	Human		name
152073684	CV1633357	single nucleotide variant	NM_001851.6(COL9A1):c.1290T>A (p.Gly430=)	not provided [RCV002129930]	likely benign	6	70266768	70266768	Human		name
152089550	CV1634025	single nucleotide variant	NM_001851.6(COL9A1):c.2241T>C (p.Pro747=)	not provided [RCV002194118]	likely benign	6	70234812	70234812	Human		name
152028325	CV1655181	single nucleotide variant	NM_001851.6(COL9A1):c.158A>G (p.Asp53Gly)	Retinal dystrophy [RCV004816961]\|not provided [RCV002105195]\|not specified [RCV004801158]	likely benign\|uncertain significance	6	70300317	70300317	Human	2	name
152173549	CV1655518	single nucleotide variant	NM_001851.6(COL9A1):c.2448T>C (p.Arg816=)	not provided [RCV002184212]	likely benign	6	70232638	70232638	Human		name
152144194	CV1658095	single nucleotide variant	NM_001851.6(COL9A1):c.2007C>T (p.Val669=)	not provided [RCV002219784]	likely benign	6	70241446	70241446	Human		name
152053466	CV1658423	single nucleotide variant	NM_001851.6(COL9A1):c.2340T>C (p.Ser780=)	not provided [RCV002207802]	likely benign	6	70232746	70232746	Human		name
155715143	CV1760409	single nucleotide variant	NM_001851.6(COL9A1):c.186G>C (p.Gln62His)	not provided [RCV002300916]	uncertain significance	6	70300156	70300156	Human		name
9688630	CV177646	single nucleotide variant	NM_001851.6(COL9A1):c.2271G>A (p.Pro757=)	Connective tissue disorder [RCV002277302]\|not provided [RCV001516303]\|not specified [RCV000153101]	benign\|likely benign	6	70234582	70234582	Human	1	name
156384557	CV1883529	single nucleotide variant	NM_001851.6(COL9A1):c.1152T>A (p.Pro384=)	not provided [RCV003093566]	likely benign	6	70270359	70270359	Human		name
156304515	CV1898491	single nucleotide variant	NM_001851.6(COL9A1):c.1878T>C (p.Ser626=)	not provided [RCV003088106]	likely benign	6	70242710	70242710	Human		name
10048329	CV192974	single nucleotide variant	NM_001851.6(COL9A1):c.1656T>C (p.Pro552=)	Connective tissue disorder [RCV002277375]\|not provided [RCV001514427]\|not specified [RCV000176473]	benign\|likely benign	6	70254972	70254972	Human	1	name
10048368	CV193118	single nucleotide variant	NM_001851.6(COL9A1):c.1728T>G (p.Pro576=)	Epiphyseal dysplasia, multiple, 6 [RCV001657952]\|not provided [RCV001522337]\|not specified [RCV000176648]	benign\|likely benign	6	70253421	70253421	Human	1	name
10051987	CV194163	single nucleotide variant	NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)	Connective tissue disorder [RCV002277396]\|not provided [RCV000724315]\|not specified [RCV000177905]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70225951	70225951	Human	1	name
156158753	CV1954659	single nucleotide variant	NM_001851.6(COL9A1):c.1251A>G (p.Pro417=)	not provided [RCV002573146]	likely benign	6	70268840	70268840	Human		name
156125494	CV1962732	single nucleotide variant	NM_001851.6(COL9A1):c.2637C>T (p.Pro879=)	not provided [RCV002572027]	likely benign	6	70217026	70217026	Human		name
155981879	CV1972475	single nucleotide variant	NM_001851.6(COL9A1):c.2127G>A (p.Gly709=)	not provided [RCV002617638]	likely benign	6	70234926	70234926	Human		name
156143831	CV1973736	duplication	NM_001851.6(COL9A1):c.771dup (p.Arg258fs)	not provided [RCV002593922]	pathogenic	6	70283745	70283746	Human		name
156398706	CV1982045	single nucleotide variant	NM_001851.6(COL9A1):c.1134A>G (p.Val378=)	not provided [RCV002635763]	likely benign	6	70271664	70271664	Human		name
156030863	CV2001209	single nucleotide variant	NM_001851.6(COL9A1):c.2382G>A (p.Arg794=)	not provided [RCV002658653]	likely benign	6	70232704	70232704	Human		name
155903290	CV2007147	single nucleotide variant	NM_001851.6(COL9A1):c.233T>A (p.Val78Glu)	not provided [RCV002681234]	uncertain significance	6	70300109	70300109	Human		name
155913042	CV2025840	single nucleotide variant	NM_001851.6(COL9A1):c.251A>G (p.Gln84Arg)	not provided [RCV002750277]	uncertain significance	6	70300091	70300091	Human		name
156271135	CV2026951	single nucleotide variant	NM_001851.6(COL9A1):c.1728T>C (p.Pro576=)	not provided [RCV002746643]	likely benign	6	70253421	70253421	Human		name
156208013	CV2040383	single nucleotide variant	NM_001851.6(COL9A1):c.2451C>A (p.Gly817=)	not provided [RCV002790132]	likely benign	6	70232635	70232635	Human		name
156036384	CV2047624	deletion	NM_001851.6(COL9A1):c.733del (p.Leu245fs)	COL9A1-related disorder [RCV004801241]\|not provided [RCV002781324]	pathogenic	6	70283784	70283784	Human	1	name , alternate_id
156248331	CV2049571	single nucleotide variant	NM_001851.6(COL9A1):c.2148T>C (p.Pro716=)	not provided [RCV002791604]	likely benign	6	70234905	70234905	Human		name
156374103	CV2052876	deletion	NM_001851.6(COL9A1):c.783del (p.Ser262fs)	not provided [RCV002814544]	pathogenic	6	70282916	70282916	Human		name
156274246	CV2056126	single nucleotide variant	NM_001851.6(COL9A1):c.2583T>G (p.Gly861=)	not provided [RCV002806770]	likely benign	6	70217080	70217080	Human		name
156321197	CV2057097	single nucleotide variant	NM_001851.6(COL9A1):c.215G>A (p.Arg72Lys)	not provided [RCV002810083]	uncertain significance	6	70300127	70300127	Human		name
156053020	CV2060138	single nucleotide variant	NM_001851.6(COL9A1):c.2454T>C (p.Leu818=)	not provided [RCV002796831]	likely benign	6	70232632	70232632	Human		name
156355318	CV2062627	single nucleotide variant	NM_001851.6(COL9A1):c.1263A>T (p.Gly421=)	not provided [RCV002812086]	uncertain significance	6	70268828	70268828	Human		name
156071653	CV2065793	single nucleotide variant	NM_001851.6(COL9A1):c.1494T>A (p.Pro498=)	not provided [RCV002847092]	likely benign	6	70256777	70256777	Human		name
156126975	CV2072789	duplication	NM_001851.6(COL9A1):c.865dup (p.Asp289fs)	not provided [RCV002825523]	pathogenic	6	70281400	70281401	Human		name
155965817	CV2080745	single nucleotide variant	NM_001851.6(COL9A1):c.1707G>A (p.Leu569=)	not provided [RCV002863077]	likely benign	6	70254488	70254488	Human		name
156219299	CV2087570	single nucleotide variant	NM_001851.6(COL9A1):c.1467T>C (p.Asp489=)	not provided [RCV002875804]	likely benign	6	70256804	70256804	Human		name
156331406	CV2094831	single nucleotide variant	NM_001851.6(COL9A1):c.2145G>C (p.Gly715=)	not provided [RCV002899946]	likely benign	6	70234908	70234908	Human		name
156012226	CV2137319	single nucleotide variant	NM_001851.6(COL9A1):c.227G>A (p.Arg76Lys)	not provided [RCV003017806]	uncertain significance	6	70300115	70300115	Human		name
156048745	CV2144457	single nucleotide variant	NM_001851.6(COL9A1):c.1812C>T (p.Gly604=)	not provided [RCV002999800]	uncertain significance	6	70252268	70252268	Human		name
156040531	CV2146751	single nucleotide variant	NM_001851.6(COL9A1):c.1749T>A (p.Gly583=)	not provided [RCV003019039]	likely benign	6	70253400	70253400	Human		name
156081699	CV2158604	single nucleotide variant	NM_001851.6(COL9A1):c.2175G>A (p.Val725=)	not provided [RCV003037905]	likely benign	6	70234878	70234878	Human		name
156366844	CV2163622	single nucleotide variant	NM_001851.6(COL9A1):c.1353T>C (p.Gly451=)	not provided [RCV003031937]	likely benign	6	70263286	70263286	Human		name
156010635	CV2170528	single nucleotide variant	NM_001851.6(COL9A1):c.1933C>T (p.Leu645=)	not provided [RCV003017723]	likely benign	6	70242029	70242029	Human		name
156370010	CV2171009	single nucleotide variant	NM_001851.6(COL9A1):c.2208T>C (p.Gly736=)	not provided [RCV003032154]	likely benign	6	70234845	70234845	Human		name
156065535	CV2175937	single nucleotide variant	NM_001851.6(COL9A1):c.2412T>G (p.Pro804=)	not provided [RCV003053553]	likely benign	6	70232674	70232674	Human		name
156368690	CV2177953	single nucleotide variant	NM_001851.6(COL9A1):c.1695T>C (p.Gly565=)	not provided [RCV003049533]	likely benign	6	70254500	70254500	Human		name
156435674	CV2402959	single nucleotide variant	NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)	Epiphyseal dysplasia, multiple, 6 [RCV003126387]	uncertain significance	6	70300055	70300055	Human	1	name
243053243	CV2418163	deletion	NM_001851.6(COL9A1):c.911del (p.Pro304fs)	Epiphyseal dysplasia, multiple, 6 [RCV003153229]	likely pathogenic	6	70281005	70281005	Human	1	name
11544176	CV252465	single nucleotide variant	NM_001851.6(COL9A1):c.1569T>A (p.Gly523=)	not provided [RCV000887792]\|not specified [RCV000243433]	benign\|likely benign\|conflicting interpretations of pathogenicity	6	70255192	70255192	Human		name
11547227	CV252471	single nucleotide variant	NM_001851.6(COL9A1):c.1071T>C (p.Arg357=)	not provided [RCV000710921]\|not specified [RCV000247489]	benign\|likely benign	6	70272083	70272083	Human		name
11636258	CV269262	single nucleotide variant	NM_001851.6(COL9A1):c.2076A>G (p.Glu692=)	not provided [RCV000265608]	conflicting interpretations of pathogenicity\|uncertain significance	6	70240692	70240692	Human		name
11643377	CV273951	single nucleotide variant	NM_001851.6(COL9A1):c.155A>T (p.Asp52Val)	not provided [RCV000392862]	uncertain significance	6	70300320	70300320	Human		name
401906365	CV2802698	single nucleotide variant	NM_001851.6(COL9A1):c.154G>C (p.Asp52His)	COL9A1-related disorder [RCV003421138]	uncertain significance	6	70300321	70300321	Human		name , trait , alternate_id
402496393	CV2883888	single nucleotide variant	NM_001851.6(COL9A1):c.2361T>G (p.Gly787=)	not provided [RCV003573518]	likely benign	6	70232725	70232725	Human		name
402479805	CV2910801	single nucleotide variant	NM_001851.6(COL9A1):c.1176C>T (p.Pro392=)	not provided [RCV003571950]	likely benign	6	70270335	70270335	Human		name
405088399	CV2943416	single nucleotide variant	NM_001851.6(COL9A1):c.1782A>G (p.Pro594=)	not provided [RCV003665114]	likely benign	6	70252298	70252298	Human		name
405238279	CV2970076	single nucleotide variant	NM_001851.6(COL9A1):c.2232C>A (p.Thr744=)	not provided [RCV003683414]	likely benign	6	70234821	70234821	Human		name
405216143	CV2977985	single nucleotide variant	NM_001851.6(COL9A1):c.190C>T (p.Gln64Ter)	not provided [RCV003709342]	pathogenic	6	70300152	70300152	Human		name
405190077	CV2988004	single nucleotide variant	NM_001851.6(COL9A1):c.1560G>T (p.Gly520=)	not provided [RCV003706384]	likely benign	6	70255201	70255201	Human		name
402501917	CV3010681	single nucleotide variant	NM_001851.6(COL9A1):c.2316A>G (p.Glu772=)	not provided [RCV003688587]	likely benign	6	70232770	70232770	Human		name
11587084	CV303893	single nucleotide variant	NM_001851.6(COL9A1):c.2676G>A (p.Pro892=)	not provided [RCV001301536]	likely benign\|uncertain significance	6	70216987	70216987	Human		name
11585573	CV303894	single nucleotide variant	NM_001851.6(COL9A1):c.1992T>G (p.Gly664=)	not provided [RCV000890790]	benign\|likely benign	6	70241970	70241970	Human		name
402513527	CV3039858	single nucleotide variant	NM_001851.6(COL9A1):c.1714T>C (p.Leu572=)	not provided [RCV003715879]	likely benign	6	70254481	70254481	Human		name
405090012	CV3044733	single nucleotide variant	NM_001851.6(COL9A1):c.2532C>T (p.Gly844=)	not provided [RCV003717752]	likely benign	6	70225981	70225981	Human		name
405167277	CV3059648	single nucleotide variant	NM_001851.6(COL9A1):c.2751A>G (p.Lys917=)	not provided [RCV003727468]	likely benign	6	70216912	70216912	Human		name
11607663	CV308547	single nucleotide variant	NM_001851.6(COL9A1):c.2721C>T (p.Thr907=)	not provided [RCV001583650]	likely benign\|uncertain significance	6	70216942	70216942	Human		name
11603249	CV308551	single nucleotide variant	NM_001851.6(COL9A1):c.2622C>T (p.Asp874=)	not provided [RCV001450197]	likely benign\|uncertain significance	6	70217041	70217041	Human		name
11600510	CV308606	single nucleotide variant	NM_001851.6(COL9A1):c.1611G>A (p.Thr537=)	Connective tissue disorder [RCV002278700]\|not provided [RCV003096275]	uncertain significance	6	70255150	70255150	Human	1	name
405093841	CV3134674	deletion	NM_001851.6(COL9A1):c.924del (p.Glu309fs)	not provided [RCV003835020]	pathogenic	6	70280863	70280863	Human		name
405202192	CV3143628	single nucleotide variant	NM_001851.6(COL9A1):c.1068C>A (p.Gly356=)	not provided [RCV003844614]	likely benign	6	70272086	70272086	Human		name
405233975	CV3145138	single nucleotide variant	NM_001851.6(COL9A1):c.1179T>A (p.Pro393=)	not provided [RCV003853395]	likely benign	6	70270332	70270332	Human		name
405191575	CV3149759	single nucleotide variant	NM_001851.6(COL9A1):c.1956C>T (p.Gly652=)	not provided [RCV003843485]	likely benign	6	70242006	70242006	Human		name
405159471	CV3159880	single nucleotide variant	NM_001851.6(COL9A1):c.2163G>T (p.Gly721=)	not provided [RCV003856951]	likely benign	6	70234890	70234890	Human		name
596942260	CV3408425	single nucleotide variant	NM_001851.6(COL9A1):c.115G>A (p.Gly39Ser)	Retinal dystrophy [RCV004816096]	uncertain significance	6	70300360	70300360	Human	2	name
596921390	CV3535012	single nucleotide variant	NM_001851.6(COL9A1):c.249G>T (p.Leu83Phe)	not provided [RCV004784570]	uncertain significance	6	70300093	70300093	Human		name
597663683	CV3654009	single nucleotide variant	NM_001851.6(COL9A1):c.272A>G (p.Asn91Ser)	Inborn genetic diseases [RCV004979002]	likely benign	6	70300070	70300070	Human	1	name
12842267	CV369022	single nucleotide variant	NM_001851.6(COL9A1):c.1905C>T (p.Ser635=)	not provided [RCV002525466]\|not specified [RCV000434091]	likely benign	6	70242683	70242683	Human		name
12844626	CV369027	single nucleotide variant	NM_001851.6(COL9A1):c.1404G>A (p.Gln468=)	not provided [RCV001458921]\|not specified [RCV000438318]	likely benign	6	70260702	70260702	Human		name
12839530	CV369029	single nucleotide variant	NM_001851.6(COL9A1):c.1053G>A (p.Ser351=)	COL9A1-related disorder [RCV003970188]\|not provided [RCV000897846]\|not specified [RCV000428986]	benign\|likely benign	6	70274059	70274059	Human	1	name , alternate_id
12846015	CV369168	single nucleotide variant	NM_001851.6(COL9A1):c.2106G>A (p.Lys702=)	not specified [RCV000440853]	likely benign	6	70239260	70239260	Human		name
12847658	CV369173	single nucleotide variant	NM_001851.6(COL9A1):c.1701A>G (p.Ala567=)	not provided [RCV000895076]\|not specified [RCV000443875]	likely benign	6	70254494	70254494	Human		name
12834844	CV370517	single nucleotide variant	NM_001851.6(COL9A1):c.1002T>A (p.Pro334=)	not provided [RCV002522572]\|not specified [RCV000420644]	likely benign	6	70274746	70274746	Human		name
597929374	CV3742071	single nucleotide variant	NM_001851.6(COL9A1):c.2319T>C (p.His773=)	not provided [RCV005075703]	likely benign	6	70232767	70232767	Human		name
597830707	CV3743245	single nucleotide variant	NM_001851.6(COL9A1):c.1245T>C (p.Cys415=)	not provided [RCV005062253]	likely benign	6	70268846	70268846	Human		name
597960037	CV3746181	single nucleotide variant	NM_001851.6(COL9A1):c.1290T>C (p.Gly430=)	not provided [RCV005081429]	likely benign	6	70266768	70266768	Human		name
597876190	CV3747832	single nucleotide variant	NM_001851.6(COL9A1):c.250C>T (p.Gln84Ter)	not provided [RCV005069323]	pathogenic	6	70300092	70300092	Human		name
597850055	CV3761748	single nucleotide variant	NM_001851.6(COL9A1):c.1965G>A (p.Gly655=)	not provided [RCV005087844]	likely benign	6	70241997	70241997	Human		name
597861704	CV3766386	single nucleotide variant	NM_001851.6(COL9A1):c.2469G>T (p.Gly823=)	not provided [RCV005106111]	likely benign	6	70232617	70232617	Human		name
597858531	CV3769641	single nucleotide variant	NM_001851.6(COL9A1):c.2469G>A (p.Gly823=)	not provided [RCV005105683]	likely benign	6	70232617	70232617	Human		name
597894544	CV3773324	single nucleotide variant	NM_001851.6(COL9A1):c.2253C>G (p.Gly751=)	not provided [RCV005111231]	likely benign	6	70234800	70234800	Human		name
597925283	CV3778164	single nucleotide variant	NM_001851.6(COL9A1):c.1995C>T (p.Asp665=)	not provided [RCV005130888]	likely benign	6	70241967	70241967	Human		name
597960604	CV3794699	single nucleotide variant	NM_001851.6(COL9A1):c.2160G>T (p.Arg720=)	not provided [RCV005138604]	likely benign	6	70234893	70234893	Human		name
597958450	CV3797229	single nucleotide variant	NM_001851.6(COL9A1):c.1836A>G (p.Pro612=)	not provided [RCV005137916]	likely benign	6	70252156	70252156	Human		name
597960939	CV3798065	single nucleotide variant	NM_001851.6(COL9A1):c.2445T>A (p.Ile815=)	not provided [RCV005138539]	likely benign	6	70232641	70232641	Human		name
597852030	CV3805634	single nucleotide variant	NM_001851.6(COL9A1):c.2271G>T (p.Pro757=)	not provided [RCV005145564]	likely benign	6	70234582	70234582	Human		name
597945905	CV3807433	single nucleotide variant	NM_001851.6(COL9A1):c.1017A>T (p.Ser339=)	not provided [RCV005160068]	likely benign	6	70274731	70274731	Human		name
597880501	CV3810267	single nucleotide variant	NM_001851.6(COL9A1):c.2199A>C (p.Gly733=)	not provided [RCV005149728]	likely benign	6	70234854	70234854	Human		name
597958294	CV3814795	single nucleotide variant	NM_001851.6(COL9A1):c.1599C>T (p.Pro533=)	not provided [RCV005162920]	likely benign	6	70255162	70255162	Human		name
597956382	CV3817957	single nucleotide variant	NM_001851.6(COL9A1):c.2760C>T (p.Asp920=)	not provided [RCV005162408]	likely benign	6	70216903	70216903	Human		name
597947890	CV3818188	single nucleotide variant	NM_001851.6(COL9A1):c.1089T>C (p.Pro363=)	not provided [RCV005160449]	uncertain significance	6	70272065	70272065	Human		name
597941602	CV3819340	deletion	NM_001851.6(COL9A1):c.848del (p.Pro283fs)	not provided [RCV005159150]	pathogenic	6	70281418	70281418	Human		name
597968560	CV3820964	single nucleotide variant	NM_001851.6(COL9A1):c.2169T>A (p.Pro723=)	not provided [RCV005165805]\|not specified [RCV005407396]	likely benign	6	70234884	70234884	Human		name
597849715	CV3824470	single nucleotide variant	NM_001851.6(COL9A1):c.1173C>G (p.Gly391=)	not provided [RCV005173509]	likely benign	6	70270338	70270338	Human		name
597832605	CV3831323	duplication	NM_001851.6(COL9A1):c.819dup (p.Gln274fs)	not provided [RCV005170526]	pathogenic	6	70281446	70281447	Human		name
597971605	CV3833117	single nucleotide variant	NM_001851.6(COL9A1):c.1182C>A (p.Gly394=)	not provided [RCV005167014]	likely benign	6	70270329	70270329	Human		name
597912397	CV3850667	deletion	NM_001851.6(COL9A1):c.601del (p.Ile201fs)	not provided [RCV005203815]	pathogenic	6	70294262	70294262	Human		name
597909483	CV3853856	single nucleotide variant	NM_001851.6(COL9A1):c.2136C>T (p.Gly712=)	not provided [RCV005203340]	likely benign	6	70234917	70234917	Human		name
13536956	CV502027	single nucleotide variant	NM_001851.6(COL9A1):c.1368C>T (p.Leu456=)	not provided [RCV000967752]	likely benign	6	70263271	70263271	Human		name
14741930	CV655747	single nucleotide variant	NM_001851.6(COL9A1):c.2406C>A (p.Gly802=)	not provided [RCV000841027]	likely benign	6	70232680	70232680	Human		name
14744154	CV655748	single nucleotide variant	NM_001851.6(COL9A1):c.1173C>T (p.Gly391=)	not provided [RCV000842567]\|not specified [RCV004689903]	likely benign	6	70270338	70270338	Human		name
15149988	CV722107	single nucleotide variant	NM_001851.6(COL9A1):c.1107A>G (p.Ala369=)	not provided [RCV000879282]	likely benign	6	70271691	70271691	Human		name
15156195	CV735731	single nucleotide variant	NM_001851.6(COL9A1):c.1113C>A (p.Leu371=)	not provided [RCV000902284]	likely benign	6	70271685	70271685	Human		name
15201458	CV750159	single nucleotide variant	NM_001851.6(COL9A1):c.2694C>T (p.Pro898=)	not provided [RCV000913144]	likely benign	6	70216969	70216969	Human		name
15199460	CV750160	single nucleotide variant	NM_001851.6(COL9A1):c.2304A>G (p.Arg768=)	not provided [RCV000912553]	likely benign	6	70234549	70234549	Human		name
15168234	CV750161	single nucleotide variant	NM_001851.6(COL9A1):c.1410G>A (p.Leu470=)	not provided [RCV000927250]	likely benign	6	70260696	70260696	Human		name
15202351	CV765801	single nucleotide variant	NM_001851.6(COL9A1):c.1182C>T (p.Gly394=)	not provided [RCV000935921]	likely benign	6	70270329	70270329	Human		name
38456087	CV933437	single nucleotide variant	NM_001851.6(COL9A1):c.226A>G (p.Arg76Gly)	not provided [RCV001210696]	uncertain significance	6	70300116	70300116	Human		name
38495788	CV954863	single nucleotide variant	NM_001851.6(COL9A1):c.107A>G (p.Asn36Ser)	not provided [RCV001242158]	uncertain significance	6	70300368	70300368	Human		name
126762604	CV991685	single nucleotide variant	NM_001851.6(COL9A1):c.286A>G (p.Arg96Gly)	not provided [RCV001309937]	uncertain significance	6	70300056	70300056	Human		name
126745333	CV991686	single nucleotide variant	NM_001851.6(COL9A1):c.140T>C (p.Ile47Thr)	not provided [RCV001305969]	uncertain significance	6	70300335	70300335	Human		name
126731378	CV991687	single nucleotide variant	NM_001851.6(COL9A1):c.127C>T (p.Leu43Phe)	not provided [RCV001303892]	uncertain significance	6	70300348	70300348	Human		name
151877098	CV1368779	single nucleotide variant	NM_001851.6(COL9A1):c.403G>A (p.Asp135Asn)	not provided [RCV001999071]	uncertain significance	6	70294460	70294460	Human		name
151878745	CV1370153	single nucleotide variant	NM_001851.6(COL9A1):c.441T>G (p.Asn147Lys)	COL9A1-related disorder [RCV003893032]\|not provided [RCV001961370]	uncertain significance	6	70294422	70294422	Human	1	name , alternate_id
151844844	CV1381532	deletion	NM_001851.6(COL9A1):c.2163del (p.Leu722fs)	not provided [RCV001881807]	pathogenic	6	70234890	70234890	Human		name
151843559	CV1408779	single nucleotide variant	NM_001851.6(COL9A1):c.641T>C (p.Ile214Thr)	not provided [RCV002015631]	uncertain significance	6	70294222	70294222	Human		name
151846472	CV1423798	single nucleotide variant	NM_001851.6(COL9A1):c.914G>A (p.Gly305Asp)	not provided [RCV001995400]	uncertain significance	6	70280873	70280873	Human		name
151846597	CV1423864	single nucleotide variant	NM_001851.6(COL9A1):c.347C>T (p.Thr116Met)	not provided [RCV001995416]	uncertain significance	6	70294516	70294516	Human		name
151854480	CV1473608	single nucleotide variant	NM_001851.6(COL9A1):c.779C>A (p.Thr260Lys)	not provided [RCV001904514]	uncertain significance	6	70283738	70283738	Human		name
151852975	CV1502064	single nucleotide variant	NM_001851.6(COL9A1):c.721C>T (p.His241Tyr)	not provided [RCV001937601]	uncertain significance	6	70283796	70283796	Human		name
153350013	CV1693897	single nucleotide variant	NM_001851.6(COL9A1):c.799G>T (p.Glu267Ter)	not provided [RCV002276450]	pathogenic	6	70282900	70282900	Human		name
155716304	CV1774179	single nucleotide variant	NM_001851.6(COL9A1):c.725G>A (p.Cys242Tyr)	not provided [RCV002296452]	uncertain significance	6	70283792	70283792	Human		name
155686995	CV1777697	single nucleotide variant	NM_001851.6(COL9A1):c.699T>G (p.Phe233Leu)	not provided [RCV002299071]	uncertain significance	6	70283818	70283818	Human		name
155747078	CV1778237	single nucleotide variant	NM_001851.6(COL9A1):c.335C>T (p.Ser112Phe)	not provided [RCV002303586]	uncertain significance	6	70294528	70294528	Human		name
156445248	CV1945307	single nucleotide variant	NM_001851.6(COL9A1):c.737G>A (p.Arg246Gln)	not provided [RCV003116188]	uncertain significance	6	70283780	70283780	Human		name
156390199	CV1955275	single nucleotide variant	NM_001851.6(COL9A1):c.803G>A (p.Arg268Lys)	not provided [RCV002583800]	uncertain significance	6	70281463	70281463	Human		name
156227958	CV1955871	single nucleotide variant	NM_001851.6(COL9A1):c.842G>C (p.Gly281Ala)	not provided [RCV002575769]	uncertain significance	6	70281424	70281424	Human		name
156211133	CV1983381	single nucleotide variant	NM_001851.6(COL9A1):c.611T>G (p.Leu204Ter)	not provided [RCV002626082]	pathogenic	6	70294252	70294252	Human		name
155975591	CV2031978	single nucleotide variant	NM_001851.6(COL9A1):c.757C>A (p.His253Asn)	not provided [RCV002755087]	uncertain significance	6	70283760	70283760	Human		name
156294966	CV2073431	single nucleotide variant	NM_001851.6(COL9A1):c.905G>C (p.Gly302Ala)	not provided [RCV002833357]	uncertain significance	6	70281011	70281011	Human		name
156387595	CV2122125	single nucleotide variant	NM_001851.6(COL9A1):c.695C>T (p.Pro232Leu)	not provided [RCV002943609]	uncertain significance	6	70294168	70294168	Human		name
155981909	CV2157388	single nucleotide variant	NM_001851.6(COL9A1):c.835C>A (p.Pro279Thr)	not provided [RCV003016421]	uncertain significance	6	70281431	70281431	Human		name
155956364	CV2162711	single nucleotide variant	NM_001851.6(COL9A1):c.865G>A (p.Asp289Asn)	not provided [RCV003015122]	uncertain significance	6	70281401	70281401	Human		name
156334640	CV2168263	single nucleotide variant	NM_001851.6(COL9A1):c.298A>G (p.Arg100Gly)	not provided [RCV003029955]	uncertain significance	6	70300044	70300044	Human		name
156220534	CV2168269	single nucleotide variant	NM_001851.6(COL9A1):c.746G>C (p.Arg249Thr)	not provided [RCV003042702]	uncertain significance	6	70283771	70283771	Human		name
156316274	CV2169146	single nucleotide variant	NM_001851.6(COL9A1):c.710G>A (p.Trp237Ter)	not provided [RCV003028879]	pathogenic	6	70283807	70283807	Human		name
156213005	CV2176392	single nucleotide variant	NM_001851.6(COL9A1):c.839C>T (p.Pro280Leu)	not provided [RCV003024880]	uncertain significance	6	70281427	70281427	Human		name
155964654	CV2179945	single nucleotide variant	NM_001851.6(COL9A1):c.781C>T (p.Pro261Ser)	not provided [RCV003033107]	uncertain significance	6	70282918	70282918	Human		name
156393967	CV2181700	single nucleotide variant	NM_001851.6(COL9A1):c.841G>A (p.Gly281Ser)	not provided [RCV003051639]	uncertain significance	6	70281425	70281425	Human		name
156321879	CV2182786	single nucleotide variant	NM_001851.6(COL9A1):c.397A>T (p.Ile133Phe)	not provided [RCV003046664]	uncertain significance	6	70294466	70294466	Human		name
156360542	CV2184152	single nucleotide variant	NM_001851.6(COL9A1):c.634A>G (p.Ile212Val)	COL9A1-related disorder [RCV004731314]\|not provided [RCV003048994]	uncertain significance	6	70294229	70294229	Human	1	name , alternate_id
156325818	CV2184316	single nucleotide variant	NM_001851.6(COL9A1):c.415A>T (p.Lys139Ter)	not provided [RCV003046929]	pathogenic	6	70294448	70294448	Human		name
156333596	CV2186630	single nucleotide variant	NM_001851.6(COL9A1):c.688T>C (p.Ser230Pro)	not provided [RCV003063837]	uncertain significance	6	70294175	70294175	Human		name
156340482	CV2186793	single nucleotide variant	NM_001851.6(COL9A1):c.994G>A (p.Gly332Arg)	not provided [RCV003064204]	uncertain significance	6	70274754	70274754	Human		name
243064661	CV2414855	single nucleotide variant	NM_001851.6(COL9A1):c.316G>C (p.Gly106Arg)	not provided [RCV003143330]	uncertain significance	6	70294547	70294547	Human		name
401762519	CV2714174	single nucleotide variant	NM_001851.6(COL9A1):c.782C>G (p.Pro261Arg)	Inborn genetic diseases [RCV003257912]	uncertain significance	6	70282917	70282917	Human	1	name
401798297	CV2739310	single nucleotide variant	NM_001851.6(COL9A1):c.583T>C (p.Phe195Leu)	not provided [RCV003318958]	uncertain significance	6	70294280	70294280	Human		name
401898395	CV2787853	single nucleotide variant	NM_001851.6(COL9A1):c.811C>T (p.Pro271Ser)	Inborn genetic diseases [RCV003376573]	uncertain significance	6	70281455	70281455	Human	1	name
401935000	CV2798091	single nucleotide variant	NM_001851.6(COL9A1):c.619A>G (p.Lys207Glu)	COL9A1-related disorder [RCV003412416]	uncertain significance	6	70294244	70294244	Human		name , trait , alternate_id
401948339	CV2832491	single nucleotide variant	NM_001851.6(COL9A1):c.443G>A (p.Gly148Asp)	Stickler syndrome, type 4 [RCV003447897]	uncertain significance	6	70294420	70294420	Human	1	name
405219760	CV2969511	deletion	NM_001851.6(COL9A1):c.1668del (p.Glu557fs)	not provided [RCV003680501]	pathogenic	6	70254527	70254527	Human		name
405201167	CV2979005	single nucleotide variant	NM_001851.6(COL9A1):c.802A>T (p.Arg268Ter)	not provided [RCV003678197]	pathogenic	6	70281464	70281464	Human		name
405192733	CV2985648	duplication	NM_001851.6(COL9A1):c.1181dup (p.Gly397fs)	not provided [RCV003706617]	pathogenic	6	70270329	70270330	Human		name
402520120	CV3002489	single nucleotide variant	NM_001851.6(COL9A1):c.604G>T (p.Glu202Ter)	not provided [RCV003690230]	pathogenic	6	70294259	70294259	Human		name
8566086	CV32234	single nucleotide variant	NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)	See cases [RCV001420255]\|Stickler syndrome, type 4 [RCV000018735]	pathogenic	6	70281033	70281033	Human	1	name
405727444	CV3235270	deletion	NM_001851.6(COL9A1):c.1029del (p.Gly344fs)	Stickler syndrome [RCV004018302]	likely pathogenic	6	70274719	70274719	Human	1	name
408384634	CV3504464	duplication	NM_001851.6(COL9A1):c.1151dup (p.Gly385fs)	COL9A1-related disorder [RCV004731973]	likely pathogenic	6	70270359	70270360	Human		name , trait , alternate_id
408384647	CV3504508	single nucleotide variant	NM_001851.6(COL9A1):c.322C>A (p.Pro108Thr)	COL9A1-related disorder [RCV004731983]	uncertain significance	6	70294541	70294541	Human		name , trait , alternate_id
596944685	CV3543467	single nucleotide variant	NM_001851.6(COL9A1):c.925G>C (p.Glu309Gln)	not provided [RCV004801588]	uncertain significance	6	70280862	70280862	Human		name
596939915	CV3550679	single nucleotide variant	NM_001851.6(COL9A1):c.382T>G (p.Trp128Gly)	not provided [RCV004814579]	uncertain significance	6	70294481	70294481	Human		name
597663707	CV3654013	single nucleotide variant	NM_001851.6(COL9A1):c.947C>T (p.Pro316Leu)	Inborn genetic diseases [RCV004979006]	uncertain significance	6	70280840	70280840	Human	1	name
597663713	CV3654014	single nucleotide variant	NM_001851.6(COL9A1):c.646G>A (p.Gly216Ser)	Inborn genetic diseases [RCV004979007]	uncertain significance	6	70294217	70294217	Human	1	name
597663720	CV3654015	single nucleotide variant	NM_001851.6(COL9A1):c.528T>G (p.Phe176Leu)	Inborn genetic diseases [RCV004979008]	uncertain significance	6	70294335	70294335	Human	1	name
597859449	CV3769953	deletion	NM_001851.6(COL9A1):c.2068del (p.Arg690fs)	not provided [RCV005105804]	pathogenic	6	70240700	70240700	Human		name
597932550	CV3780773	deletion	NM_001851.6(COL9A1):c.2313del (p.Glu772fs)	not provided [RCV005116885]	pathogenic	6	70234540	70234540	Human		name
597941476	CV3785800	duplication	NM_001851.6(COL9A1):c.1692dup (p.Gly565fs)	not provided [RCV005133693]	pathogenic	6	70254502	70254503	Human		name
597925422	CV3808768	single nucleotide variant	NM_001851.6(COL9A1):c.601A>T (p.Ile201Phe)	not provided [RCV005156283]	likely benign	6	70294262	70294262	Human		name
597973122	CV3820108	single nucleotide variant	NM_001851.6(COL9A1):c.905G>A (p.Gly302Asp)	not provided [RCV005167822]	uncertain significance	6	70281011	70281011	Human		name
597849168	CV3824398	single nucleotide variant	NM_001851.6(COL9A1):c.602T>C (p.Ile201Thr)	not provided [RCV005173437]	uncertain significance	6	70294261	70294261	Human		name
597832607	CV3831324	single nucleotide variant	NM_001851.6(COL9A1):c.818A>G (p.Glu273Gly)	not provided [RCV005170527]	uncertain significance	6	70281448	70281448	Human		name
597845065	CV3880290	single nucleotide variant	NM_001851.6(COL9A1):c.550A>G (p.Met184Val)	not provided [RCV005227178]	uncertain significance	6	70294313	70294313	Human		name
598233314	CV3948768	single nucleotide variant	NM_001851.6(COL9A1):c.547A>G (p.Ile183Val)	Inborn genetic diseases [RCV005319908]	uncertain significance	6	70294316	70294316	Human	1	name
26912047	CV821939	single nucleotide variant	NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)	COL9A1-related disorder [RCV003963000]\|Inborn genetic diseases [RCV003346255]\|not provided [RCV001034447]\|not specified [RCV001700689]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70294403	70294403	Human	2	name , alternate_id
26920011	CV832300	single nucleotide variant	NM_001851.6(COL9A1):c.968G>T (p.Gly323Val)	Inborn genetic diseases [RCV002552608]\|not provided [RCV001046807]	uncertain significance	6	70280819	70280819	Human	1	name
26890988	CV832301	single nucleotide variant	NM_001851.6(COL9A1):c.907C>G (p.Pro303Ala)	not provided [RCV001059995]	uncertain significance	6	70281009	70281009	Human		name
26893161	CV832302	single nucleotide variant	NM_001851.6(COL9A1):c.899C>T (p.Pro300Leu)	not provided [RCV001062470]	uncertain significance	6	70281017	70281017	Human		name
26886768	CV832303	single nucleotide variant	NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser)	COL9A1-related disorder [RCV003405263]\|not provided [RCV001055418]\|not specified [RCV004526075]	uncertain significance	6	70281458	70281458	Human	1	name , alternate_id
26892338	CV832304	single nucleotide variant	NM_001851.6(COL9A1):c.755G>A (p.Cys252Tyr)	not provided [RCV001061685]	uncertain significance	6	70283762	70283762	Human		name
26919903	CV832305	single nucleotide variant	NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu)	Inborn genetic diseases [RCV002552599]\|not provided [RCV001046618]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70294411	70294411	Human	1	name
26890484	CV832306	single nucleotide variant	NM_001851.6(COL9A1):c.381C>A (p.Asn127Lys)	not provided [RCV001059364]	uncertain significance	6	70294482	70294482	Human		name
38462715	CV919046	single nucleotide variant	NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)	Stickler syndrome, type 4 [RCV001196482]\|not provided [RCV001876273]	pathogenic\|uncertain significance	6	70294511	70294511	Human	1	name
38491712	CV924436	single nucleotide variant	NM_001851.6(COL9A1):c.340T>G (p.Leu114Val)	Inborn genetic diseases [RCV003163732]\|not provided [RCV001223029]	uncertain significance	6	70294523	70294523	Human	1	name
38466185	CV933436	single nucleotide variant	NM_001851.6(COL9A1):c.309T>A (p.Tyr103Ter)	not provided [RCV001212748]	pathogenic	6	70294554	70294554	Human		name
38477048	CV945144	single nucleotide variant	NM_001851.6(COL9A1):c.758A>G (p.His253Arg)	not provided [RCV001233285]	uncertain significance	6	70283759	70283759	Human		name
38498415	CV954861	single nucleotide variant	NM_001851.6(COL9A1):c.877G>A (p.Gly293Ser)	not provided [RCV001243809]	uncertain significance	6	70281039	70281039	Human		name
38493160	CV954862	single nucleotide variant	NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr)	Inborn genetic diseases [RCV003166500]\|not provided [RCV001240516]	uncertain significance	6	70294315	70294315	Human	1	name
127274062	CV1060841	deletion	NM_001851.6(COL9A1):c.1178del (p.Pro393fs)	COL9A1-related disorder [RCV003399213]\|not provided [RCV001390997]	pathogenic\|likely pathogenic	6	70270333	70270333	Human	1	alternate_id
127255920	CV1073934	single nucleotide variant	NM_001851.6(COL9A1):c.1465G>C (p.Asp489His)	COL9A1-related disorder [RCV003930899]\|not provided [RCV001418902]	likely benign	6	70256806	70256806	Human	1	alternate_id
127301937	CV1155473	single nucleotide variant	NM_001851.6(COL9A1):c.674A>T (p.Asp225Val)	COL9A1-related disorder [RCV003908829]\|Connective tissue disorder [RCV002276753]\|not provided [RCV001514878]	benign\|likely benign	6	70294189	70294189	Human	2	alternate_id
150550609	CV1308306	single nucleotide variant	NM_001851.6(COL9A1):c.559G>A (p.Val187Met)	COL9A1-related disorder [RCV004752047]\|not provided [RCV001753297]	conflicting interpretations of pathogenicity\|uncertain significance	6	70294304	70294304	Human	1	alternate_id
150536998	CV1314431	duplication	NM_001851.6(COL9A1):c.2364dup (p.Thr789fs)	COL9A1-related disorder [RCV004750915]\|not provided [RCV003681617]	pathogenic\|likely pathogenic	6	70232721	70232722	Human	1	alternate_id
151734470	CV1501180	single nucleotide variant	NM_001851.6(COL9A1):c.2225G>A (p.Gly742Asp)	COL9A1-related disorder [RCV003418270]\|not provided [RCV002005126]	uncertain significance	6	70234828	70234828	Human	1	alternate_id
152128154	CV1554338	single nucleotide variant	NM_001851.6(COL9A1):c.1256G>A (p.Arg419His)	COL9A1-related disorder [RCV003960905]\|not provided [RCV002176440]	likely benign	6	70268835	70268835	Human	1	alternate_id
9692860	CV177242	single nucleotide variant	NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)	COL9A1-related disorder [RCV003945206]\|Inborn genetic diseases [RCV004975299]\|not provided [RCV000723858]\|not specified [RCV004700478]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70234813	70234813	Human	2	alternate_id
10053414	CV196230	single nucleotide variant	NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)	COL9A1-related disorder [RCV003917683]\|not provided [RCV000836089]\|not specified [RCV000180578]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70281012	70281012	Human	1	alternate_id
156126805	CV2112376	single nucleotide variant	NM_001851.6(COL9A1):c.355A>T (p.Met119Leu)	COL9A1-related disorder [RCV004750788]\|Inborn genetic diseases [RCV004973723]\|not provided [RCV002928037]	uncertain significance	6	70294508	70294508	Human	2	alternate_id
11579281	CV268894	single nucleotide variant	NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)	COL9A1-related disorder [RCV003930102]\|Inborn genetic diseases [RCV002518942]\|Stickler syndrome [RCV005365224]\|not provided [RCV000360027]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70217078	70217078	Human	3	alternate_id
401919309	CV2798133	single nucleotide variant	NM_001851.6(COL9A1):c.2074G>A (p.Glu692Lys)	COL9A1-related disorder [RCV003402181]	uncertain significance	6	70240694	70240694	Human		trait , alternate_id
401921845	CV2800014	single nucleotide variant	NM_001851.6(COL9A1):c.2485G>A (p.Gly829Ser)	COL9A1-related disorder [RCV003403093]	uncertain significance	6	70232601	70232601	Human		trait , alternate_id
11586772	CV300947	single nucleotide variant	NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	COL9A1-related disorder [RCV003950271]\|Connective tissue disorder [RCV002278615]\|Hearing impairment [RCV001375076]\|Stickler syndrome, type 4 [RCV003447524]\|not provided [RCV000991647]\|not specified [RCV004767244]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	6	70281014	70281014	Human	5	alternate_id
13486948	CV443980	single nucleotide variant	NM_001851.6(COL9A1):c.1376T>C (p.Val459Ala)	COL9A1-related disorder [RCV004751582]\|not provided [RCV000523076]	uncertain significance	6	70263263	70263263	Human	1	alternate_id
13509256	CV481768	single nucleotide variant	NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)	COL9A1-related disorder [RCV004751604]\|not provided [RCV000579297]	pathogenic\|likely pathogenic	6	70271678	70271678	Human	1	alternate_id
14693320	CV620242	single nucleotide variant	NM_001851.6(COL9A1):c.1891G>T (p.Gly631Ter)	COL9A1-related disorder [RCV004527792]	uncertain significance	6	70242697	70242697	Human		trait , alternate_id
150411802	CV1176801	deletion	NM_001851.6(COL9A1):c.1450-229_1450-228del	not provided [RCV001547304]	likely benign	6	70257049	70257050	Human		name
150433361	CV1203649	microsatellite	NM_001851.6(COL9A1):c.1089+173_1089+176del	not provided [RCV001581805]	likely benign	6	70271889	70271892	Human		name
150443054	CV1249221	duplication	NM_001851.6(COL9A1):c.2314+227_2314+230dup	not provided [RCV001666653]	benign	6	70234304	70234305	Human		name
150460887	CV1253172	deletion	NM_001851.6(COL9A1):c.1450-231_1450-228del	not provided [RCV001669501]	benign	6	70257049	70257052	Human		name
150446649	CV1261394	deletion	NM_001851.6(COL9A1):c.1450-232_1450-228del	not provided [RCV001680068]	benign	6	70257049	70257053	Human		name
152110675	CV1519560	indel	NM_001851.6(COL9A1):c.1765-21_1765-20delinsAG	not provided [RCV002153012]	likely benign	6	70252335	70252336	Human		name
156352025	CV1985699	indel	NM_001851.6(COL9A1):c.1230+12_1230+13delinsCT	not provided [RCV002632045]	uncertain significance	6	70269620	70269621	Human		name
150505001	CV1211512	microsatellite	NM_001851.6(COL9A1):c.2079+94_2079+95insTGTATA	not provided [RCV001595677]	benign	6	70240594	70240595	Human		name
150459224	CV1263987	insertion	NM_001851.6(COL9A1):c.2314+233_2314+234insTTTG	not provided [RCV001681902]	benign	6	70234305	70234306	Human		name
150515903	CV1216370	insertion	NM_001851.6(COL9A1):c.2314+239_2314+240insTTTTT	not provided [RCV001608561]	benign	6	70234299	70234300	Human		name
402505289	CV3181545	insertion	NM_001851.6(COL9A1):c.1143+14_1143+15insACTTGATA	not provided [RCV003878379]	likely benign	6	70271640	70271641	Human		name
150481183	CV1209743	microsatellite	NM_001851.6(COL9A1):c.1065+74_1065+75insTTTTTTTATTTA	not provided [RCV001590440]	likely benign	6	70273972	70273973	Human		name
151839307	CV1415191	single nucleotide variant	NM_001851.6(COL9A1):c.509C>T (p.Ser170Leu)	not provided [RCV001921339]	uncertain significance	6	70294354	70294354	Human		name
156181166	CV2023357	single nucleotide variant	NM_001851.6(COL9A1):c.970G>A (p.Ala324Thr)	not provided [RCV002765619]	uncertain significance	6	70280817	70280817	Human		name

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