Trip11 Variant Search Result - Rat Genome Database

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950 records found for search term Trip11

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405854046	CV3395590	variation	TRIP11, ASN701SERfsTER13	Achondrogenesis, type IA [RCV004555921]	pathogenic				Human		name
11624610	CV339845	single nucleotide variant	NM_004239.4(TRIP11):c.*9C>G	Achondrogenesis, type IA [RCV000387882]	uncertain significance	14	91969664	91969664	Human	1	name
11621186	CV337901	single nucleotide variant	NM_004239.4(TRIP11):c.-24G>A	Achondrogenesis, type IA [RCV000345286]\|not specified [RCV000616164]	likely benign\|uncertain significance	14	92039709	92039709	Human	1	name
11616620	CV337908	single nucleotide variant	NM_004239.4(TRIP11):c.-61C>T	Achondrogenesis, type IA [RCV000296157]\|not provided [RCV001812833]	benign\|likely benign	14	92039746	92039746	Human	1	name
11661920	CV339910	single nucleotide variant	NM_004239.4(TRIP11):c.-58C>T	Achondrogenesis [RCV000381123]	uncertain significance	14	92039743	92039743	Human	1	name
28884684	CV872964	single nucleotide variant	NM_004239.4(TRIP11):c.-98C>T	Achondrogenesis, type IA [RCV001118814]	uncertain significance	14	92039783	92039783	Human	1	name
11601037	CV321759	single nucleotide variant	NM_004239.4(TRIP11):c.*952A>T	Achondrogenesis, type IA [RCV000278834]\|not provided [RCV004715876]	benign	14	91968721	91968721	Human	2	name
11661211	CV321760	single nucleotide variant	NM_004239.4(TRIP11):c.*904A>G	Achondrogenesis, type IA [RCV000374461]	uncertain significance	14	91968769	91968769	Human	1	name
11607940	CV321761	single nucleotide variant	NM_004239.4(TRIP11):c.*840A>G	Achondrogenesis, type IA [RCV000348926]	uncertain significance	14	91968833	91968833	Human	1	name
11600346	CV321763	deletion	NM_004239.4(TRIP11):c.*387del	Achondrogenesis [RCV000273299]	likely benign	14	91969286	91969286	Human	1	name
11664360	CV321811	single nucleotide variant	NM_004239.4(TRIP11):c.-255G>A	Achondrogenesis, type IA [RCV000404779]	uncertain significance	14	92039940	92039940	Human	1	name
11604580	CV321818	single nucleotide variant	NM_004239.4(TRIP11):c.-265C>A	Achondrogenesis, type IA [RCV000310969]	uncertain significance	14	92039950	92039950	Human	1	name
11603281	CV321819	single nucleotide variant	NM_004239.4(TRIP11):c.-331C>G	Achondrogenesis, type IA [RCV000298371]\|not provided [RCV001551024]	benign\|likely benign	14	92040016	92040016	Human	1	name
11608305	CV321823	single nucleotide variant	NM_004239.4(TRIP11):c.-333G>A	Achondrogenesis, type IA [RCV000353242]\|Achondrogenesis, type IA [RCV002480136]	uncertain significance	14	92040018	92040018	Human	1	name
11652207	CV321825	single nucleotide variant	NM_004239.4(TRIP11):c.-337C>T	Achondrogenesis, type IA [RCV000303531]	uncertain significance	14	92040022	92040022	Human	1	name
11663413	CV331079	single nucleotide variant	NM_004239.4(TRIP11):c.*491A>C	Achondrogenesis, type IA [RCV000395637]	uncertain significance	14	91969182	91969182	Human	1	name
11660267	CV331095	single nucleotide variant	NM_004239.4(TRIP11):c.*409A>G	Achondrogenesis, type IA [RCV000365566]	uncertain significance	14	91969264	91969264	Human	1	name
11613354	CV331098	deletion	NM_004239.4(TRIP11):c.*383del	Achondrogenesis [RCV000267375]	uncertain significance	14	91969290	91969290	Human	1	name
11655167	CV331101	single nucleotide variant	NM_004239.4(TRIP11):c.*362C>G	Achondrogenesis, type IA [RCV000323854]	uncertain significance	14	91969311	91969311	Human	1	name
11664129	CV331133	single nucleotide variant	NM_004239.4(TRIP11):c.-272G>C	Achondrogenesis, type IA [RCV000402648]	uncertain significance	14	92039957	92039957	Human	1	name
11664163	CV337830	single nucleotide variant	NM_004239.4(TRIP11):c.*628C>T	Achondrogenesis, type IA [RCV000403004]	uncertain significance	14	91969045	91969045	Human	1	name
11618453	CV337833	single nucleotide variant	NM_004239.4(TRIP11):c.*610A>C	Achondrogenesis, type IA [RCV000313905]\|not provided [RCV004714900]	benign\|likely benign	14	91969063	91969063	Human	1	name
11659624	CV337834	duplication	NM_004239.4(TRIP11):c.*383dup	Achondrogenesis [RCV000359690]	uncertain significance	14	91969289	91969290	Human	1	name
11623349	CV337846	single nucleotide variant	NM_004239.4(TRIP11):c.*345T>C	Achondrogenesis, type IA [RCV000371538]\|not provided [RCV001653546]	benign\|likely benign	14	91969328	91969328	Human	1	name
11623635	CV337851	single nucleotide variant	NM_004239.4(TRIP11):c.*246A>G	Achondrogenesis, type IA [RCV000375039]\|not provided [RCV004714902]	benign\|likely benign	14	91969427	91969427	Human	1	name
11619938	CV337852	single nucleotide variant	NM_004239.4(TRIP11):c.*100A>G	Achondrogenesis, type IA [RCV000331013]\|not provided [RCV004693203]	uncertain significance	14	91969573	91969573	Human	1	name
11645909	CV337915	single nucleotide variant	NM_004239.4(TRIP11):c.-335G>A	Achondrogenesis, type IA [RCV000267811]	uncertain significance	14	92040020	92040020	Human	1	name
11622259	CV337931	single nucleotide variant	NM_004239.4(TRIP11):c.-365C>G	Achondrogenesis, type IA [RCV000358368]\|not provided [RCV001590942]	benign\|likely benign	14	92040050	92040050	Human	1	name
11620392	CV339825	single nucleotide variant	NM_004239.4(TRIP11):c.*930C>T	Achondrogenesis, type IA [RCV000336198]	benign\|likely benign	14	91968743	91968743	Human	1	name
11648526	CV339826	single nucleotide variant	NM_004239.4(TRIP11):c.*891A>G	Achondrogenesis, type IA [RCV000282225]	uncertain significance	14	91968782	91968782	Human	1	name
11621841	CV339831	single nucleotide variant	NM_004239.4(TRIP11):c.*544C>T	Achondrogenesis, type IA [RCV000352762]	uncertain significance	14	91969129	91969129	Human	1	name
11617888	CV339832	single nucleotide variant	NM_004239.4(TRIP11):c.*430A>G	Achondrogenesis, type IA [RCV000308531]\|not provided [RCV004714901]	benign	14	91969243	91969243	Human	3	name
11617888	CV339832	single nucleotide variant	NM_004239.4(TRIP11):c.*430A>G	Achondrogenesis, type IA [RCV000308531]\|not provided [RCV004714901]	benign	14	91969243	91969244	Human	3	name
11652090	CV339836	single nucleotide variant	NM_004239.4(TRIP11):c.*384A>T	Achondrogenesis, type IA [RCV000302667]	uncertain significance	14	91969289	91969289	Human	1	name
11612575	CV339839	single nucleotide variant	NM_004239.4(TRIP11):c.*312A>G	Achondrogenesis, type IA [RCV000260495]	uncertain significance	14	91969361	91969361	Human	1	name
11618779	CV339840	single nucleotide variant	NM_004239.4(TRIP11):c.*290A>G	Achondrogenesis, type IA [RCV000318028]	likely benign\|uncertain significance	14	91969383	91969383	Human	1	name
11616150	CV339841	single nucleotide variant	NM_004239.4(TRIP11):c.*163C>T	Achondrogenesis, type IA [RCV000292303]\|not provided [RCV001539700]	benign\|likely benign\|uncertain significance	14	91969510	91969510	Human	1	name
11658697	CV339915	single nucleotide variant	NM_004239.4(TRIP11):c.-128C>T	Achondrogenesis, type IA [RCV000350626]	uncertain significance	14	92039813	92039813	Human	1	name
11657007	CV339919	single nucleotide variant	NM_004239.4(TRIP11):c.-267A>G	Achondrogenesis, type IA [RCV000337905]	uncertain significance	14	92039952	92039952	Human	1	name
14706483	CV667646	single nucleotide variant	NM_004239.3(TRIP11):c.-554A>G	not provided [RCV000826532]	benign	14	92040239	92040239	Human		name
28874286	CV872930	single nucleotide variant	NM_004239.4(TRIP11):c.*938A>G	Achondrogenesis, type IA [RCV001115391]	uncertain significance	14	91968735	91968735	Human	1	name
28874288	CV872931	single nucleotide variant	NM_004239.4(TRIP11):c.*749G>A	Achondrogenesis, type IA [RCV001115392]	benign	14	91968924	91968924	Human	1	name
28874289	CV872932	single nucleotide variant	NM_004239.4(TRIP11):c.*664C>T	Achondrogenesis, type IA [RCV001115393]	benign	14	91969009	91969009	Human	1	name
28883773	CV872933	single nucleotide variant	NM_004239.4(TRIP11):c.*387C>A	Achondrogenesis, type IA [RCV001118543]	benign	14	91969286	91969286	Human	1	name
28888895	CV872934	single nucleotide variant	NM_004239.4(TRIP11):c.*297A>G	Achondrogenesis, type IA [RCV001120070]	uncertain significance	14	91969376	91969376	Human	1	name
28888900	CV872935	single nucleotide variant	NM_004239.4(TRIP11):c.*288C>A	Achondrogenesis, type IA [RCV001120071]\|not provided [RCV001558896]	likely benign	14	91969385	91969385	Human	1	name
28888903	CV872936	single nucleotide variant	NM_004239.4(TRIP11):c.*273A>C	Achondrogenesis, type IA [RCV001120072]	uncertain significance	14	91969400	91969400	Human	1	name
28889811	CV872937	single nucleotide variant	NM_004239.4(TRIP11):c.*162G>T	Achondrogenesis, type IA [RCV001120380]	uncertain significance	14	91969511	91969511	Human	1	name
28889815	CV872938	single nucleotide variant	NM_004239.4(TRIP11):c.*107C>T	Achondrogenesis, type IA [RCV001120381]	uncertain significance	14	91969566	91969566	Human	1	name
28890881	CV872965	single nucleotide variant	NM_004239.4(TRIP11):c.-349T>G	Achondrogenesis, type IA [RCV001120773]	uncertain significance	14	92040034	92040034	Human	1	name
127232593	CV1080828	single nucleotide variant	NM_004239.4(TRIP11):c.202-4C>G	Achondrogenesis, type IA [RCV001395772]	likely benign	14	92025424	92025424	Human	1	name
150546982	CV1313994	single nucleotide variant	NM_004239.4(TRIP11):c.588+2T>C	Achondrogenesis, type IA [RCV001885171]	pathogenic\|likely pathogenic	14	92021554	92021554	Human	1	name
152054121	CV1574215	single nucleotide variant	NM_004239.4(TRIP11):c.824-9A>G	Achondrogenesis, type IA [RCV002189754]	likely benign	14	92014586	92014586	Human	1	name
8558748	CV20549	single nucleotide variant	NM_004239.4(TRIP11):c.202-2A>G	Achondrogenesis, type IA [RCV000005845]	pathogenic\|likely pathogenic	14	92025422	92025422	Human	1	name
156223852	CV2089169	single nucleotide variant	NM_004239.4(TRIP11):c.313-6A>G	Achondrogenesis, type IA [RCV002894290]	likely benign	14	92021837	92021837	Human	1	name
155903415	CV2127107	single nucleotide variant	NM_004239.4(TRIP11):c.312+6T>C	Achondrogenesis, type IA [RCV002967560]	uncertain significance	14	92025304	92025304	Human	1	name
405109459	CV3067538	deletion	NM_004239.4(TRIP11):c.202-5del	Achondrogenesis, type IA [RCV003615271]	benign	14	92025425	92025425	Human	1	name
11599442	CV321810	single nucleotide variant	NM_004239.4(TRIP11):c.202-7T>A	Achondrogenesis, type IA [RCV000952731]\|Connective tissue disorder [RCV002278419]\|TRIP11-related disorder [RCV003920317]\|not provided [RCV003656110]\|not specified [RCV000436320]	benign\|likely benign	14	92025427	92025427	Human	3	name , trait , alternate_id
11613629	CV331063	single nucleotide variant	NM_004239.4(TRIP11):c.*1374A>C	Achondrogenesis, type IA [RCV000269921]	benign\|likely benign	14	91968299	91968299	Human	1	name
11624294	CV331064	deletion	NM_004239.4(TRIP11):c.*1339del	Achondrogenesis [RCV000384300]	uncertain significance	14	91968334	91968334	Human	1	name
11654946	CV331067	single nucleotide variant	NM_004239.4(TRIP11):c.*1194A>G	Achondrogenesis, type IA [RCV000321666]	uncertain significance	14	91968479	91968479	Human	1	name
11623995	CV331078	single nucleotide variant	NM_004239.4(TRIP11):c.*1060C>T	Achondrogenesis, type IA [RCV000380370]\|not provided [RCV004715875]	benign	14	91968613	91968613	Human	4	name
11623995	CV331078	single nucleotide variant	NM_004239.4(TRIP11):c.*1060C>T	Achondrogenesis, type IA [RCV000380370]\|not provided [RCV004715875]	benign	14	91968613	91968614	Human	4	name
11612912	CV337882	single nucleotide variant	NM_004239.4(TRIP11):c.823+4A>T	Achondrogenesis, type IA [RCV000263550]	uncertain significance	14	92015692	92015692	Human	1	name
11618471	CV339811	single nucleotide variant	NM_004239.4(TRIP11):c.*1744G>A	Achondrogenesis, type IA [RCV000314532]\|not provided [RCV004715874]	benign\|likely benign	14	91967929	91967929	Human	1	name
11622599	CV339812	single nucleotide variant	NM_004239.4(TRIP11):c.*1554T>A	Achondrogenesis, type IA [RCV000362116]\|not provided [RCV004714899]	benign\|likely benign	14	91968119	91968119	Human	1	name
11619621	CV339817	duplication	NM_004239.4(TRIP11):c.*1339dup	Achondrogenesis [RCV000327438]	likely benign	14	91968333	91968334	Human	1	name
11613027	CV339819	single nucleotide variant	NM_004239.4(TRIP11):c.*1294A>G	Achondrogenesis, type IA [RCV000264169]	uncertain significance	14	91968379	91968379	Human	1	name
597894225	CV3744030	single nucleotide variant	NM_004239.4(TRIP11):c.313-4A>G	Achondrogenesis, type IA [RCV005071500]	likely benign	14	92021835	92021835	Human	1	name
597891860	CV3750078	single nucleotide variant	NM_004239.4(TRIP11):c.139+7G>T	Achondrogenesis, type IA [RCV005071239]	likely benign	14	92039540	92039540	Human	1	name
597967190	CV3751772	single nucleotide variant	NM_004239.4(TRIP11):c.824-7G>A	Achondrogenesis, type IA [RCV005083142]	likely benign	14	92014584	92014584	Human	1	name
597972398	CV3790255	single nucleotide variant	NM_004239.4(TRIP11):c.140-4G>A	Achondrogenesis, type IA [RCV005142678]	likely benign	14	92033257	92033257	Human	1	name
597930540	CV3826979	single nucleotide variant	NM_004239.4(TRIP11):c.201+6A>G	Achondrogenesis, type IA [RCV005156992]	uncertain significance	14	92033186	92033186	Human	1	name
598127794	CV3882887	duplication	NM_004239.4(TRIP11):c.202-5dup	not provided [RCV005234419]	likely benign	14	92025424	92025425	Human		name
28888583	CV872925	single nucleotide variant	NM_004239.4(TRIP11):c.*1591G>T	Achondrogenesis, type IA [RCV001119979]	uncertain significance	14	91968082	91968082	Human	1	name
28888587	CV872926	single nucleotide variant	NM_004239.4(TRIP11):c.*1521G>A	Achondrogenesis, type IA [RCV001119980]	uncertain significance	14	91968152	91968152	Human	1	name
28889501	CV872927	single nucleotide variant	NM_004239.4(TRIP11):c.*1212C>T	Achondrogenesis, type IA [RCV001120278]	uncertain significance	14	91968461	91968461	Human	1	name
28889504	CV872928	single nucleotide variant	NM_004239.4(TRIP11):c.*1185G>A	Achondrogenesis, type IA [RCV001120279]	uncertain significance	14	91968488	91968488	Human	1	name
28889507	CV872929	single nucleotide variant	NM_004239.4(TRIP11):c.*1175C>G	Achondrogenesis, type IA [RCV001120280]	uncertain significance	14	91968498	91968498	Human	1	name
28875120	CV876466	single nucleotide variant	NM_004239.4(TRIP11):c.657+9A>C	Achondrogenesis, type IA [RCV001115753]	conflicting interpretations of pathogenicity\|uncertain significance	14	92017673	92017673	Human	1	name
150426316	CV1188179	single nucleotide variant	NM_004239.4(TRIP11):c.201+27T>C	not provided [RCV001559415]	likely benign	14	92033165	92033165	Human		name
150404516	CV1194891	single nucleotide variant	NM_004239.4(TRIP11):c.823+77C>G	not provided [RCV001571195]	likely benign	14	92015619	92015619	Human		name
150459731	CV1202964	single nucleotide variant	NM_004239.4(TRIP11):c.202-79G>A	not provided [RCV001586617]	likely benign	14	92025499	92025499	Human		name
150477229	CV1203157	single nucleotide variant	NM_004239.4(TRIP11):c.823+83C>T	not provided [RCV001589751]	likely benign	14	92015613	92015613	Human		name
150502973	CV1212369	single nucleotide variant	NM_004239.4(TRIP11):c.658-49A>G	not provided [RCV001595243]	benign	14	92015910	92015910	Human		name
150495090	CV1225010	single nucleotide variant	NM_004239.4(TRIP11):c.824-21T>G	not provided [RCV001619488]	benign	14	92014598	92014598	Human		name
150490458	CV1239121	single nucleotide variant	NM_004239.4(TRIP11):c.202-89A>G	not provided [RCV001654689]	benign	14	92025509	92025509	Human		name
150492175	CV1253884	single nucleotide variant	NM_004239.4(TRIP11):c.823+30A>T	not provided [RCV001674980]	benign	14	92015666	92015666	Human		name
151798934	CV1347432	single nucleotide variant	NM_004239.4(TRIP11):c.1527+4A>G	Achondrogenesis, type IA [RCV002027908]	uncertain significance	14	92007636	92007636	Human	1	name
151730660	CV1489548	single nucleotide variant	NM_004239.4(TRIP11):c.5161-3C>G	Achondrogenesis, type IA [RCV001910838]	uncertain significance	14	91988386	91988386	Human	1	name
152138320	CV1603895	single nucleotide variant	NM_004239.4(TRIP11):c.657+16G>C	Achondrogenesis, type IA [RCV002219028]	likely benign	14	92017666	92017666	Human	1	name
152033137	CV1610290	deletion	NM_004239.4(TRIP11):c.588+11del	Achondrogenesis, type IA [RCV002124879]	benign	14	92021545	92021545	Human	1	name
152174192	CV1622184	single nucleotide variant	NM_004239.4(TRIP11):c.313-18T>G	Achondrogenesis, type IA [RCV002184428]	likely benign	14	92021849	92021849	Human	1	name
152123924	CV1660435	single nucleotide variant	NM_004239.4(TRIP11):c.312+12C>A	Achondrogenesis, type IA [RCV002154615]	likely benign	14	92025298	92025298	Human	1	name
152174805	CV1663501	single nucleotide variant	NM_004239.4(TRIP11):c.4558-8T>C	Achondrogenesis, type IA [RCV002144558]	likely benign	14	92000116	92000116	Human	1	name
156376596	CV1956629	duplication	NM_004239.4(TRIP11):c.201+15dup	Achondrogenesis, type IA [RCV002582854]	likely benign	14	92033176	92033177	Human	1	name
156329991	CV1969886	single nucleotide variant	NM_004239.4(TRIP11):c.1186+1G>C	Achondrogenesis, type IA [RCV002600741]	likely pathogenic	14	92014214	92014214	Human	1	name
156272518	CV2018470	single nucleotide variant	NM_004239.4(TRIP11):c.1186+5A>G	Achondrogenesis, type IA [RCV002715030]	uncertain significance	14	92014210	92014210	Human	1	name
156202287	CV2034788	single nucleotide variant	NM_004239.4(TRIP11):c.5343-4A>G	Achondrogenesis, type IA [RCV002766284]	likely benign	14	91975290	91975290	Human	1	name
156288189	CV2047076	single nucleotide variant	NM_004239.4(TRIP11):c.201+10A>C	Achondrogenesis, type IA [RCV002770653]	likely benign	14	92033182	92033182	Human	1	name
156131908	CV2112956	single nucleotide variant	NM_004239.4(TRIP11):c.5575-1G>A	Achondrogenesis, type IA [RCV002914585]	likely pathogenic	14	91972862	91972862	Human	1	name
156367486	CV2116870	deletion	NM_004239.4(TRIP11):c.4893-9del	Achondrogenesis, type IA [RCV002942063]	benign	14	91995524	91995524	Human	1	name
156268042	CV2136285	duplication	NM_004239.4(TRIP11):c.588+17dup	Achondrogenesis, type IA [RCV003009165]	benign	14	92021538	92021539	Human	1	name
156027335	CV2145797	deletion	NM_004239.4(TRIP11):c.657+12del	Achondrogenesis, type IA [RCV003018520]	likely benign	14	92017670	92017670	Human	1	name
156027648	CV2156168	single nucleotide variant	NM_004239.4(TRIP11):c.1228-4G>A	Achondrogenesis, type IA [RCV003018534]	likely benign	14	92011076	92011076	Human	1	name
156067527	CV2167021	single nucleotide variant	NM_004239.4(TRIP11):c.658-18T>G	Achondrogenesis, type IA [RCV003019936]	likely benign	14	92015879	92015879	Human	1	name
156156191	CV2190860	single nucleotide variant	NM_004239.4(TRIP11):c.140-20A>G	Achondrogenesis, type IA [RCV003040538]	likely benign	14	92033273	92033273	Human	1	name
402477806	CV2869123	single nucleotide variant	NM_004239.4(TRIP11):c.5261-7A>T	Achondrogenesis, type IA [RCV003506063]	likely benign	14	91976196	91976196	Human	1	name
405105386	CV2960024	single nucleotide variant	NM_004239.4(TRIP11):c.1527+9G>T	Achondrogenesis, type IA [RCV003614376]	likely benign	14	92007631	92007631	Human	1	name
405034195	CV3130448	single nucleotide variant	NM_004239.4(TRIP11):c.5057-1G>A	Achondrogenesis, type IA [RCV003830855]	likely pathogenic	14	91993913	91993913	Human	1	name
405238032	CV3165371	single nucleotide variant	NM_004239.4(TRIP11):c.5343-1G>C	Achondrogenesis, type IA [RCV003866573]	likely pathogenic	14	91975287	91975287	Human	1	name
404993470	CV3176394	single nucleotide variant	NM_004239.4(TRIP11):c.4558-5A>G	Achondrogenesis, type IA [RCV003881826]	likely benign	14	92000113	92000113	Human	1	name
11656456	CV337858	single nucleotide variant	NM_004239.4(TRIP11):c.4699-4C>G	Achondrogenesis, type IA [RCV000333579]	uncertain significance	14	91999437	91999437	Human	1	name
11617721	CV337872	single nucleotide variant	NM_004239.4(TRIP11):c.1527+6A>G	Achondrogenesis, type IA [RCV000968637]\|Connective tissue disorder [RCV002278416]\|not provided [RCV001812830]\|not specified [RCV000445105]	benign\|likely benign	14	92007634	92007634	Human	2	name
12844610	CV373947	single nucleotide variant	NM_004239.4(TRIP11):c.5057-9T>G	Achondrogenesis, type IA [RCV000963313]\|not specified [RCV000438297]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	91993921	91993921	Human	1	name
597897945	CV3744606	single nucleotide variant	NM_004239.4(TRIP11):c.823+18T>C	Achondrogenesis, type IA [RCV005071885]	likely benign	14	92015678	92015678	Human	1	name
597971785	CV3833112	single nucleotide variant	NM_004239.4(TRIP11):c.313-12A>T	Achondrogenesis, type IA [RCV005167009]	likely benign	14	92021843	92021843	Human	1	name
13528748	CV497041	single nucleotide variant	NM_004239.4(TRIP11):c.5719+2T>C	Achondrogenesis, type IA [RCV000610429]\|not provided [RCV001764723]\|not specified [RCV000824805]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	91972715	91972715	Human	1	name
13528402	CV513449	single nucleotide variant	NM_004239.4(TRIP11):c.4557+1G>T	Odontochondrodysplasia 1 [RCV000625983]	pathogenic	14	92003418	92003418	Human	1	name
15099636	CV730965	single nucleotide variant	NM_004239.4(TRIP11):c.1527+7C>G	Achondrogenesis, type IA [RCV000891974]	likely benign	14	92007633	92007633	Human	1	name
26907257	CV852019	single nucleotide variant	NM_004239.4(TRIP11):c.5720-5T>G	Achondrogenesis, type IA [RCV001037881]	uncertain significance	14	91969898	91969898	Human	1	name
28890590	CV876465	single nucleotide variant	NM_004239.4(TRIP11):c.824-15G>C	Achondrogenesis, type IA [RCV001120673]	uncertain significance	14	92014592	92014592	Human	1	name
28879344	CV876467	single nucleotide variant	NM_004239.4(TRIP11):c.202-11T>G	Achondrogenesis, type IA [RCV001117187]	conflicting interpretations of pathogenicity\|uncertain significance	14	92025431	92025431	Human	1	name
127261056	CV1086973	single nucleotide variant	NM_004239.4(TRIP11):c.5457+81T>A	Achondrogenesis, type IA [RCV001420138]	pathogenic\|uncertain significance	14	91975091	91975091	Human	1	name
150340394	CV1168311	single nucleotide variant	NM_004239.4(TRIP11):c.5260+24T>C	Achondrogenesis, type IA [RCV001838680]\|Odontochondrodysplasia 1 [RCV001838681]\|not provided [RCV001535319]	benign	14	91988260	91988260	Human	3	name
150340394	CV1168311	single nucleotide variant	NM_004239.4(TRIP11):c.5260+24T>C	Achondrogenesis, type IA [RCV001838680]\|Odontochondrodysplasia 1 [RCV001838681]\|not provided [RCV001535319]	benign	14	91988260	91988261	Human	3	name
150410307	CV1177824	single nucleotide variant	NM_004239.4(TRIP11):c.823+204G>A	not provided [RCV001546572]	likely benign	14	92015492	92015492	Human		name
150409251	CV1177825	single nucleotide variant	NM_004239.4(TRIP11):c.139+218A>G	not provided [RCV001546185]	likely benign	14	92039329	92039329	Human		name
150423251	CV1184936	single nucleotide variant	NM_004239.4(TRIP11):c.5342+75A>G	not provided [RCV001555068]	likely benign	14	91976033	91976033	Human		name
150427784	CV1188178	single nucleotide variant	NM_004239.4(TRIP11):c.589-299C>T	not provided [RCV001561385]	likely benign	14	92018049	92018049	Human		name
150415358	CV1191628	deletion	NM_004239.4(TRIP11):c.5160+93del	not provided [RCV001567949]	likely benign	14	91993716	91993716	Human		name
150419116	CV1198578	single nucleotide variant	NM_004239.4(TRIP11):c.5720-73A>G	not provided [RCV001577033]	likely benign	14	91969966	91969966	Human		name
150416801	CV1198579	single nucleotide variant	NM_004239.4(TRIP11):c.5056+90G>A	not provided [RCV001576034]	likely benign	14	91995262	91995262	Human		name
150459254	CV1202899	single nucleotide variant	NM_004239.4(TRIP11):c.589-173G>A	not provided [RCV001586552]	likely benign	14	92017923	92017923	Human		name
150476743	CV1203086	single nucleotide variant	NM_004239.4(TRIP11):c.658-276T>C	not provided [RCV001589680]	likely benign	14	92016137	92016137	Human		name
150433823	CV1204194	single nucleotide variant	NM_004239.4(TRIP11):c.5057-48T>C	not provided [RCV001581943]	likely benign	14	91993960	91993960	Human		name
150496619	CV1206138	single nucleotide variant	NM_004239.4(TRIP11):c.1314+86T>C	not provided [RCV001593820]	likely benign	14	92010900	92010900	Human		name
150431267	CV1206292	deletion	NM_004239.4(TRIP11):c.312+102del	not provided [RCV001580941]	likely benign	14	92025208	92025208	Human		name
150467395	CV1207089	single nucleotide variant	NM_004239.4(TRIP11):c.5575-64T>G	not provided [RCV001587881]	likely benign	14	91972925	91972925	Human		name
150497247	CV1208724	single nucleotide variant	NM_004239.4(TRIP11):c.5720-26G>A	not provided [RCV001593940]	likely benign	14	91969919	91969919	Human		name
150483350	CV1210118	single nucleotide variant	NM_004239.4(TRIP11):c.1227+36A>G	not provided [RCV001590817]	likely benign	14	92011719	92011719	Human		name
150509046	CV1214200	single nucleotide variant	NM_004239.4(TRIP11):c.658-311T>A	not provided [RCV001596721]	benign	14	92016172	92016172	Human		name
150433315	CV1216869	deletion	NM_004239.4(TRIP11):c.5458-43del	not provided [RCV001608771]	benign	14	91974786	91974786	Human		name
150433208	CV1230447	single nucleotide variant	NM_004239.4(TRIP11):c.5160+55G>T	not provided [RCV001643392]	benign	14	91993754	91993754	Human		name
150437611	CV1237897	single nucleotide variant	NM_004239.4(TRIP11):c.140-214G>A	not provided [RCV001644395]	benign	14	92033467	92033467	Human		name
150444334	CV1249401	duplication	NM_004239.4(TRIP11):c.5458-55dup	not provided [RCV001666833]	benign	14	91974785	91974786	Human		name
150488779	CV1250435	single nucleotide variant	NM_004239.4(TRIP11):c.1527+41A>G	Achondrogenesis, type IA [RCV001838748]\|Odontochondrodysplasia 1 [RCV001838749]\|not provided [RCV001674395]	benign	14	92007599	92007599	Human	4	name
150488779	CV1250435	single nucleotide variant	NM_004239.4(TRIP11):c.1527+41A>G	Achondrogenesis, type IA [RCV001838748]\|Odontochondrodysplasia 1 [RCV001838749]\|not provided [RCV001674395]	benign	14	92007599	92007600	Human	4	name
150450975	CV1254174	deletion	NM_004239.4(TRIP11):c.588+167del	not provided [RCV001667813]	benign	14	92021389	92021389	Human		name
150479166	CV1258211	single nucleotide variant	NM_004239.4(TRIP11):c.5574+24T>C	not provided [RCV001685627]	benign	14	91974603	91974603	Human		name
150455337	CV1259852	single nucleotide variant	NM_004239.4(TRIP11):c.5574+65C>G	not provided [RCV001681331]	benign	14	91974562	91974562	Human		name
150483893	CV1263066	single nucleotide variant	NM_004239.4(TRIP11):c.5161-21T>A	not provided [RCV001686466]	benign	14	91988404	91988404	Human		name
150478960	CV1273385	single nucleotide variant	NM_004239.4(TRIP11):c.823+111C>T	not provided [RCV001696588]	benign	14	92015585	92015585	Human		name
150486358	CV1283581	single nucleotide variant	NM_004239.4(TRIP11):c.5574+85T>A	not provided [RCV001715773]	benign	14	91974542	91974542	Human		name
150487464	CV1283824	single nucleotide variant	NM_004239.4(TRIP11):c.5574+86A>T	not provided [RCV001715956]	benign	14	91974541	91974541	Human		name
150488295	CV1283989	single nucleotide variant	NM_004239.4(TRIP11):c.1186+48T>G	not provided [RCV001716078]	benign	14	92014167	92014167	Human		name
152120983	CV1547498	single nucleotide variant	NM_004239.4(TRIP11):c.4698+15T>C	Achondrogenesis, type IA [RCV002081549]	likely benign	14	91999953	91999953	Human	1	name
152082983	CV1608172	single nucleotide variant	NM_004239.4(TRIP11):c.4892+12A>T	Achondrogenesis, type IA [RCV002193265]	likely benign	14	91999228	91999228	Human	1	name
152050380	CV1626293	single nucleotide variant	NM_004239.4(TRIP11):c.5457+10C>T	Achondrogenesis, type IA [RCV002189337]	likely benign	14	91975162	91975162	Human	1	name
156408586	CV1870159	deletion	NM_004239.4(TRIP11):c.5260+12del	Achondrogenesis, type IA [RCV003071329]	benign	14	91988272	91988272	Human	1	name
156378935	CV1876777	single nucleotide variant	NM_004239.4(TRIP11):c.5457+11G>A	Achondrogenesis, type IA [RCV003066993]	likely benign	14	91975161	91975161	Human	1	name
156286954	CV1884895	single nucleotide variant	NM_004239.4(TRIP11):c.1227+15A>G	Achondrogenesis, type IA [RCV003061285]	likely benign	14	92011740	92011740	Human	1	name
156404417	CV1886707	single nucleotide variant	NM_004239.4(TRIP11):c.4558-18A>T	Achondrogenesis, type IA [RCV003069713]	likely benign	14	92000126	92000126	Human	1	name
156412086	CV1890321	single nucleotide variant	NM_004239.4(TRIP11):c.1315-12T>C	Achondrogenesis, type IA [RCV003072750]	likely benign	14	92007864	92007864	Human	1	name
156029870	CV1893529	single nucleotide variant	NM_004239.4(TRIP11):c.4699-13G>A	Achondrogenesis, type IA [RCV003078048]	likely benign	14	91999446	91999446	Human	1	name
156380441	CV1899715	single nucleotide variant	NM_004239.4(TRIP11):c.5458-15A>G	Achondrogenesis, type IA [RCV003093229]	likely benign	14	91974758	91974758	Human	1	name
10050076	CV191379	deletion	NM_004239.4(TRIP11):c.4892+10del	Achondrogenesis, type IA [RCV002516633]\|TRIP11-related disorder [RCV003955026]\|not provided [RCV000174533]	benign\|likely benign\|uncertain significance	14	91999230	91999230	Human	2	name , trait , alternate_id
156373428	CV1923835	single nucleotide variant	NM_004239.4(TRIP11):c.5161-18T>C	Achondrogenesis, type IA [RCV002633611]	likely benign	14	91988401	91988401	Human	1	name
156117922	CV2015783	single nucleotide variant	NM_004239.4(TRIP11):c.5056+12G>A	Achondrogenesis, type IA [RCV002695922]	likely benign	14	91995340	91995340	Human	1	name
8558747	CV20548	protein only	NP_004230.2(TRIP11):p.Trp1224Ter	Achondrogenesis, type IA [RCV000005844]	pathogenic				Human		name
156094336	CV2152010	single nucleotide variant	NM_004239.4(TRIP11):c.5160+11A>T	Achondrogenesis, type IA [RCV003020803]	likely benign	14	91993798	91993798	Human	1	name
155953585	CV2161476	single nucleotide variant	NM_004239.4(TRIP11):c.5260+18C>T	Achondrogenesis, type IA [RCV003032566]	likely benign	14	91988266	91988266	Human	1	name
243064203	CV2411250	single nucleotide variant	NM_004239.4(TRIP11):c.4558-32T>G	not provided [RCV003142822]	uncertain significance	14	92000140	92000140	Human		name
11641521	CV266168	single nucleotide variant	NM_004239.4(TRIP11):c.5574+19C>A	Achondrogenesis, type IA [RCV002059094]\|not provided [RCV000358083]	likely benign\|uncertain significance	14	91974608	91974608	Human	1	name
402479126	CV2892027	single nucleotide variant	NM_004239.4(TRIP11):c.1186+10C>G	Achondrogenesis, type IA [RCV003506258]	likely benign	14	92014205	92014205	Human	1	name
402482767	CV2899685	single nucleotide variant	NM_004239.4(TRIP11):c.1186+18C>G	Achondrogenesis, type IA [RCV003506664]	likely benign	14	92014197	92014197	Human	1	name
402482561	CV2902193	single nucleotide variant	NM_004239.4(TRIP11):c.5343-18C>T	Achondrogenesis, type IA [RCV003506645]	likely benign	14	91975304	91975304	Human	1	name
405105041	CV2944601	single nucleotide variant	NM_004239.4(TRIP11):c.1315-14T>C	Achondrogenesis, type IA [RCV003614299]	likely benign	14	92007866	92007866	Human	1	name
405088957	CV2974868	single nucleotide variant	NM_004239.4(TRIP11):c.5719+13A>T	Achondrogenesis, type IA [RCV003613574]	likely benign	14	91972704	91972704	Human	1	name
405107469	CV3016152	single nucleotide variant	NM_004239.4(TRIP11):c.4557+13T>A	Achondrogenesis, type IA [RCV003614731]	likely benign	14	92003406	92003406	Human	1	name
405110658	CV3072148	single nucleotide variant	NM_004239.4(TRIP11):c.4892+19T>G	Achondrogenesis, type IA [RCV003615494]	likely benign	14	91999221	91999221	Human	1	name
405000154	CV3120150	single nucleotide variant	NM_004239.4(TRIP11):c.4558-11C>A	Achondrogenesis, type IA [RCV003827940]	likely benign	14	92000119	92000119	Human	1	name
405082757	CV3166840	single nucleotide variant	NM_004239.4(TRIP11):c.4557+15G>T	Achondrogenesis, type IA [RCV003851614]	likely benign	14	92003404	92003404	Human	1	name
11659712	CV321774	single nucleotide variant	NM_004239.4(TRIP11):c.5457+13T>A	Achondrogenesis, type IA [RCV000360475]	uncertain significance	14	91975159	91975159	Human	1	name
11618351	CV339901	single nucleotide variant	NM_004239.4(TRIP11):c.1186+14G>A	Achondrogenesis, type IA [RCV000312943]	conflicting interpretations of pathogenicity\|uncertain significance	14	92014201	92014201	Human	1	name
12846873	CV376267	single nucleotide variant	NM_004239.4(TRIP11):c.5056+11C>T	Achondrogenesis, type IA [RCV001120486]\|not specified [RCV000442484]	benign\|likely benign	14	91995341	91995341	Human	1	name
597974399	CV3831620	single nucleotide variant	NM_004239.4(TRIP11):c.1187-17A>G	Achondrogenesis, type IA [RCV005168559]	likely benign	14	92011812	92011812	Human	1	name
597933739	CV3844638	duplication	NM_004239.4(TRIP11):c.5260+12dup	Achondrogenesis, type IA [RCV005186144]	benign	14	91988271	91988272	Human	1	name
597902077	CV3845430	single nucleotide variant	NM_004239.4(TRIP11):c.1314+10G>A	Achondrogenesis, type IA [RCV005181240]	likely benign	14	92010976	92010976	Human	1	name
14727677	CV667538	single nucleotide variant	NM_004239.4(TRIP11):c.1187-59T>C	not provided [RCV000834427]	benign	14	92011854	92011854	Human		name
14706554	CV667539	single nucleotide variant	NM_004239.4(TRIP11):c.824-126T>G	not provided [RCV000826555]	benign	14	92014703	92014703	Human		name
14706546	CV667543	single nucleotide variant	NM_004239.4(TRIP11):c.589-133A>G	not provided [RCV000826553]	benign	14	92017883	92017883	Human		name
14706537	CV667545	single nucleotide variant	NM_004239.4(TRIP11):c.140-259C>T	not provided [RCV000826550]	benign	14	92033512	92033512	Human		name
14720691	CV667644	single nucleotide variant	NM_004239.4(TRIP11):c.201+188A>C	not provided [RCV000831336]	benign	14	92033004	92033004	Human		name
14706543	CV667901	single nucleotide variant	NM_004239.4(TRIP11):c.140-251C>T	not provided [RCV000826552]	benign	14	92033504	92033504	Human		name
14706486	CV667904	single nucleotide variant	NM_004239.4(TRIP11):c.139+291G>T	not provided [RCV000826533]	benign	14	92039256	92039256	Human		name
21405404	CV799785	single nucleotide variant	NM_004239.4(TRIP11):c.5160+59A>G	not provided [RCV001585905]\|not specified [RCV001000361]	benign\|likely benign	14	91993750	91993750	Human	1	name
21405404	CV799785	single nucleotide variant	NM_004239.4(TRIP11):c.5160+59A>G	not provided [RCV001585905]\|not specified [RCV001000361]	benign\|likely benign	14	91993750	91993751	Human	1	name
41404938	CV981887	single nucleotide variant	NM_004239.4(TRIP11):c.4558-18A>C	Achondrogenesis, type IA [RCV003505173]\|not provided [RCV001812290]	likely benign	14	92000126	92000126	Human	1	name
150331539	CV1163601	single nucleotide variant	NM_004239.4(TRIP11):c.5574+218G>A	not provided [RCV001527841]	likely benign	14	91974409	91974409	Human		name
150333705	CV1169607	single nucleotide variant	NM_004239.4(TRIP11):c.4557+243T>G	not provided [RCV001537462]	benign	14	92003176	92003176	Human		name
150334272	CV1172654	single nucleotide variant	NM_004239.4(TRIP11):c.1228-246G>A	not provided [RCV001539938]	likely benign	14	92011318	92011318	Human		name
150410277	CV1177822	single nucleotide variant	NM_004239.4(TRIP11):c.5056+223T>C	not provided [RCV001546557]	likely benign	14	91995129	91995129	Human		name
150415463	CV1177823	single nucleotide variant	NM_004239.4(TRIP11):c.1228-116T>A	not provided [RCV001548588]	likely benign	14	92011188	92011188	Human		name
150416529	CV1181203	single nucleotide variant	NM_004239.4(TRIP11):c.4558-270G>A	not provided [RCV001549696]	likely benign	14	92000378	92000378	Human		name
150422330	CV1181206	single nucleotide variant	NM_004239.4(TRIP11):c.1315-234G>A	not provided [RCV001552508]	likely benign	14	92008086	92008086	Human		name
150420172	CV1181207	single nucleotide variant	NM_004239.4(TRIP11):c.1227+169A>T	not provided [RCV001551414]	likely benign	14	92011586	92011586	Human		name
150425849	CV1184935	single nucleotide variant	NM_004239.4(TRIP11):c.5574+232A>G	not provided [RCV001558553]	likely benign	14	91974395	91974395	Human		name
150423593	CV1184938	single nucleotide variant	NM_004239.4(TRIP11):c.4893-213C>T	not provided [RCV001555534]	likely benign	14	91995728	91995728	Human		name
150423423	CV1184939	single nucleotide variant	NM_004239.4(TRIP11):c.4892+265C>G	not provided [RCV001555301]	likely benign	14	91998975	91998975	Human		name
150426573	CV1188171	single nucleotide variant	NM_004239.4(TRIP11):c.5719+261C>A	not provided [RCV001559747]	likely benign	14	91972456	91972456	Human		name
150427289	CV1188172	single nucleotide variant	NM_004239.4(TRIP11):c.5575-321G>A	not provided [RCV001560727]	likely benign	14	91973182	91973182	Human		name
150427409	CV1188174	single nucleotide variant	NM_004239.4(TRIP11):c.5261-211T>A	not provided [RCV001560887]	likely benign	14	91976400	91976400	Human		name
150428611	CV1188175	single nucleotide variant	NM_004239.4(TRIP11):c.5056+198T>G	not provided [RCV001562483]	likely benign	14	91995154	91995154	Human		name
150428549	CV1188176	single nucleotide variant	NM_004239.4(TRIP11):c.1528-212C>G	not provided [RCV001562404]	likely benign	14	92006660	92006660	Human		name
150428912	CV1188177	single nucleotide variant	NM_004239.4(TRIP11):c.1227+309C>T	not provided [RCV001562893]	likely benign	14	92011446	92011446	Human		name
150413752	CV1191626	single nucleotide variant	NM_004239.4(TRIP11):c.5720-289C>T	not provided [RCV001567302]	likely benign	14	91970182	91970182	Human		name
150409668	CV1191627	single nucleotide variant	NM_004239.4(TRIP11):c.5342+282T>A	not provided [RCV001565746]	likely benign	14	91975826	91975826	Human		name
150414320	CV1191629	single nucleotide variant	NM_004239.4(TRIP11):c.1315-191C>T	not provided [RCV001567481]	likely benign	14	92008043	92008043	Human		name
150415301	CV1191630	single nucleotide variant	NM_004239.4(TRIP11):c.1315-296G>T	not provided [RCV001567923]	likely benign	14	92008148	92008148	Human		name
150407604	CV1191631	single nucleotide variant	NM_004239.4(TRIP11):c.1314+214G>A	not provided [RCV001565065]	likely benign	14	92010772	92010772	Human		name
150418363	CV1194889	single nucleotide variant	NM_004239.4(TRIP11):c.5260+178C>T	not provided [RCV001569182]	likely benign	14	91988106	91988106	Human		name
150432756	CV1200786	single nucleotide variant	NM_004239.4(TRIP11):c.4893-229A>C	not provided [RCV001581510]	likely benign	14	91995744	91995744	Human		name
150438537	CV1201417	single nucleotide variant	NM_004239.4(TRIP11):c.4558-256A>G	not provided [RCV001583229]	likely benign	14	92000364	92000364	Human		name
150474371	CV1202089	single nucleotide variant	NM_004239.4(TRIP11):c.1314+256G>C	not provided [RCV001589332]	likely benign	14	92010730	92010730	Human		name
150474761	CV1202145	single nucleotide variant	NM_004239.4(TRIP11):c.4558-187A>G	not provided [RCV001589388]	likely benign	14	92000295	92000295	Human		name
150430960	CV1204064	single nucleotide variant	NM_004239.4(TRIP11):c.5719+260T>A	not provided [RCV001580839]	likely benign	14	91972457	91972457	Human		name
150452683	CV1205557	single nucleotide variant	NM_004239.4(TRIP11):c.5575-203G>A	not provided [RCV001585458]	likely benign	14	91973064	91973064	Human		name
150462944	CV1206660	single nucleotide variant	NM_004239.4(TRIP11):c.5719+181C>T	not provided [RCV001587061]	likely benign	14	91972536	91972536	Human		name
150468625	CV1207439	single nucleotide variant	NM_004239.4(TRIP11):c.4557+320G>A	not provided [RCV001588128]	likely benign	14	92003099	92003099	Human		name
150497417	CV1208752	single nucleotide variant	NM_004239.4(TRIP11):c.5575-223C>T	not provided [RCV001593969]	likely benign	14	91973084	91973084	Human		name
150511699	CV1212813	single nucleotide variant	NM_004239.4(TRIP11):c.5342+193G>A	not provided [RCV001598045]	benign	14	91975915	91975915	Human		name
150474436	CV1217802	single nucleotide variant	NM_004239.4(TRIP11):c.4557+297T>C	not provided [RCV001615813]	benign	14	92003122	92003122	Human		name
150441002	CV1220250	single nucleotide variant	NM_004239.4(TRIP11):c.5720-279A>G	not provided [RCV001610234]	benign	14	91970172	91970172	Human		name
150436864	CV1220621	deletion	NM_004239.4(TRIP11):c.1227+271del	not provided [RCV001609605]	benign	14	92011484	92011484	Human		name
150435158	CV1221574	duplication	NM_004239.4(TRIP11):c.1227+246dup	not provided [RCV001609262]	benign	14	92011483	92011484	Human		name
150496854	CV1236922	single nucleotide variant	NM_004239.4(TRIP11):c.5458-190G>A	not provided [RCV001655986]	benign	14	91974933	91974933	Human		name
150469073	CV1243097	duplication	NM_004239.4(TRIP11):c.5575-182dup	not provided [RCV001650616]	benign	14	91973025	91973026	Human		name
150508258	CV1244786	single nucleotide variant	NM_004239.4(TRIP11):c.4892+238T>C	not provided [RCV001659035]	benign	14	91999002	91999002	Human		name
150448516	CV1253563	single nucleotide variant	NM_004239.4(TRIP11):c.5343-136A>G	not provided [RCV001667491]	benign	14	91975422	91975422	Human		name
150450397	CV1254109	single nucleotide variant	NM_004239.4(TRIP11):c.5720-343C>T	not provided [RCV001667747]	benign	14	91970236	91970236	Human		name
150467332	CV1255889	deletion	NM_004239.4(TRIP11):c.5160+332del	not provided [RCV001670523]	benign	14	91993477	91993477	Human		name
150506587	CV1257378	deletion	NM_004239.4(TRIP11):c.4893-105del	not provided [RCV001678218]	benign	14	91995620	91995620	Human		name
150469985	CV1259750	single nucleotide variant	NM_004239.4(TRIP11):c.5057-146G>A	not provided [RCV001684051]	benign	14	91994058	91994058	Human		name
150475183	CV1263466	deletion	NM_004239.4(TRIP11):c.5575-165del	not provided [RCV001684989]	benign	14	91973026	91973026	Human		name
150454586	CV1266034	single nucleotide variant	NM_004239.4(TRIP11):c.4893-264G>T	not provided [RCV001692611]	benign	14	91995779	91995779	Human		name
150465259	CV1268580	single nucleotide variant	NM_004239.4(TRIP11):c.5720-176A>G	not provided [RCV001694276]	benign	14	91970069	91970069	Human		name
150452111	CV1276685	duplication	NM_004239.4(TRIP11):c.5160+310dup	not provided [RCV001708474]	benign	14	91993476	91993477	Human		name
329954542	CV2669527	single nucleotide variant	NM_004239.4(TRIP11):c.5343-314T>C	Odontochondrodysplasia 1 [RCV003232035]	uncertain significance	14	91975600	91975600	Human	1	name
14706652	CV666748	single nucleotide variant	NM_004239.4(TRIP11):c.5719+314T>C	not provided [RCV000826587]	benign	14	91972403	91972403	Human		name
14708431	CV666752	deletion	NM_004239.4(TRIP11):c.5160+230del	not provided [RCV000826582]	benign	14	91993579	91993579	Human		name
14706573	CV666755	single nucleotide variant	NM_004239.4(TRIP11):c.4893-203G>A	not provided [RCV000826561]	benign	14	91995718	91995718	Human		name
14718554	CV667525	single nucleotide variant	NM_004239.4(TRIP11):c.1528-145T>C	not provided [RCV000830429]	benign	14	92006593	92006593	Human		name
14706560	CV667529	single nucleotide variant	NM_004239.4(TRIP11):c.1314+162T>C	not provided [RCV000826557]	benign	14	92010824	92010824	Human		name
14718579	CV667638	single nucleotide variant	NM_004239.4(TRIP11):c.4893-186G>A	not provided [RCV000830436]	benign	14	91995701	91995701	Human		name
14706639	CV667878	single nucleotide variant	NM_004239.4(TRIP11):c.5575-250G>A	not provided [RCV000826583]	benign	14	91973111	91973111	Human		name
14706634	CV667880	single nucleotide variant	NM_004239.4(TRIP11):c.5160+195G>A	not provided [RCV000826581]	benign	14	91993614	91993614	Human	1	name
14706567	CV667881	single nucleotide variant	NM_004239.4(TRIP11):c.4698+201G>A	not provided [RCV000826559]	benign	14	91999767	91999767	Human		name
14723002	CV667893	single nucleotide variant	NM_004239.4(TRIP11):c.4558-273A>G	not provided [RCV000832344]	benign	14	92000381	92000381	Human		name
150488288	CV1283988	microsatellite	NM_004239.4(TRIP11):c.4558-46GT[8]	not provided [RCV001716077]	benign	14	92000140	92000141	Human		name
14709346	CV667642	microsatellite	NM_004239.4(TRIP11):c.4558-46GT[6]	not provided [RCV000835284]	likely benign	14	92000141	92000142	Human		name
150424293	CV1184937	microsatellite	NM_004239.4(TRIP11):c.4893-63CTT[2]	not provided [RCV001556470]	likely benign	14	91995570	91995572	Human		name
28879351	CV872963	single nucleotide variant	NM_004239.4(TRIP11):c.9C>T (p.Ser3=)	Achondrogenesis, type IA [RCV001117188]	conflicting interpretations of pathogenicity\|uncertain significance	14	92039677	92039677	Human	1	name
155924097	CV2148679	single nucleotide variant	NM_004239.4(TRIP11):c.24C>G (p.Leu8=)	Achondrogenesis, type IA [RCV003013326]	likely benign	14	92039662	92039662	Human	1	name
150536377	CV1293034	duplication	NM_004239.4(TRIP11):c.202-92_202-90dup	not provided [RCV001762820]	benign	14	92025509	92025510	Human		name
152138549	CV1572294	deletion	NM_004239.4(TRIP11):c.658-13_658-11del	Achondrogenesis, type IA [RCV002219061]	likely benign	14	92015872	92015874	Human	1	name
402477864	CV2879761	single nucleotide variant	NM_004239.4(TRIP11):c.75C>T (p.Ser25=)	Achondrogenesis, type IA [RCV003506074]	likely benign	14	92039611	92039611	Human	1	name
402479312	CV2885627	deletion	NM_004239.4(TRIP11):c.589-11_589-10del	Achondrogenesis, type IA [RCV003506279]	likely benign	14	92017760	92017761	Human	1	name
402472884	CV2930708	deletion	NM_004239.4(TRIP11):c.201+14_201+15del	Achondrogenesis, type IA [RCV003505004]	likely benign	14	92033177	92033178	Human	1	name
405108322	CV3035457	microsatellite	NM_004239.4(TRIP11):c.312+14_312+15del	Achondrogenesis, type IA [RCV003615036]	likely benign	14	92025295	92025296	Human		name
15195759	CV754214	single nucleotide variant	NM_004239.4(TRIP11):c.42G>A (p.Gln14=)	Achondrogenesis, type IA [RCV001478177]	likely benign	14	92039644	92039644	Human	1	name
150500721	CV1283799	insertion	NM_004239.4(TRIP11):c.202-96_202-95insT	not provided [RCV001718452]	benign	14	92025515	92025516	Human		name
152026470	CV1550297	single nucleotide variant	NM_004239.4(TRIP11):c.231T>C (p.Asp77=)	Achondrogenesis, type IA [RCV002185165]	likely benign	14	92025391	92025391	Human	1	name
152062941	CV1611996	single nucleotide variant	NM_004239.4(TRIP11):c.297A>G (p.Gln99=)	Achondrogenesis, type IA [RCV002128567]	likely benign	14	92025325	92025325	Human	1	name
11619041	CV337899	single nucleotide variant	NM_004239.4(TRIP11):c.183T>C (p.His61=)	Achondrogenesis, type IA [RCV000320601]	conflicting interpretations of pathogenicity\|uncertain significance	14	92033210	92033210	Human	1	name
597893911	CV3856794	deletion	NM_004239.4(TRIP11):c.1527+9_1527+10del	Achondrogenesis, type IA [RCV005200863]	likely benign	14	92007630	92007631	Human	1	name
15130517	CV754213	single nucleotide variant	NM_004239.4(TRIP11):c.189C>T (p.Ile63=)	not provided [RCV000920022]	likely benign	14	92033204	92033204	Human		name
15109748	CV784813	single nucleotide variant	NM_004239.4(TRIP11):c.210G>A (p.Arg70=)	Achondrogenesis, type IA [RCV001450787]	likely benign	14	92025412	92025412	Human	1	name
38498830	CV957340	duplication	NM_004239.4(TRIP11):c.81dup (p.Gly28fs)	Achondrogenesis, type IA [RCV001244068]	pathogenic	14	92039604	92039605	Human	1	name
127278493	CV1102647	single nucleotide variant	NM_004239.4(TRIP11):c.618T>C (p.Ser206=)	Achondrogenesis, type IA [RCV001445105]	likely benign	14	92017721	92017721	Human	1	name
150513733	CV1213846	duplication	NM_004239.4(TRIP11):c.5720-72_5720-69dup	not provided [RCV001598582]	likely benign	14	91969961	91969962	Human		name
150500696	CV1238230	deletion	NM_004239.4(TRIP11):c.588+166_588+167del	not provided [RCV001656660]	benign	14	92021389	92021390	Human		name
150553881	CV1308985	single nucleotide variant	NM_004239.4(TRIP11):c.321C>T (p.Ile107=)	Achondrogenesis, type IA [RCV002077203]\|not provided [RCV001769898]	likely benign\|uncertain significance	14	92021823	92021823	Human	1	name
151352640	CV1321731	single nucleotide variant	NM_004239.4(TRIP11):c.969T>G (p.Ser323=)	Achondrogenesis, type IA [RCV003505190]\|not provided [RCV001812597]	likely benign	14	92014432	92014432	Human	1	name
152132769	CV1557312	single nucleotide variant	NM_004239.4(TRIP11):c.663A>G (p.Leu221=)	Achondrogenesis, type IA [RCV002137142]	likely benign	14	92015856	92015856	Human	1	name
153347840	CV1694888	single nucleotide variant	NM_004239.4(TRIP11):c.975A>G (p.Ala325=)	Achondrogenesis, type IA [RCV003505203]\|Connective tissue disorder [RCV002278819]	likely benign\|uncertain significance	14	92014426	92014426	Human	2	name
155267791	CV1705163	insertion	NM_004239.4(TRIP11):c.202-89_202-88insGG	not provided [RCV002285768]	likely benign	14	92025508	92025509	Human		name
156380150	CV1968503	single nucleotide variant	NM_004239.4(TRIP11):c.661C>T (p.Leu221=)	Achondrogenesis, type IA [RCV002603907]	likely benign	14	92015858	92015858	Human	1	name
156411948	CV1969986	single nucleotide variant	NM_004239.4(TRIP11):c.885A>G (p.Gln295=)	Achondrogenesis, type IA [RCV002608398]	likely benign	14	92014516	92014516	Human	1	name
156251418	CV2116966	single nucleotide variant	NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro)	Achondrogenesis, type IA [RCV002933562]	uncertain significance	14	92039645	92039645	Human	1	name
155942512	CV2143058	single nucleotide variant	NM_004239.4(TRIP11):c.465A>C (p.Ser155=)	Achondrogenesis, type IA [RCV002994147]	likely benign	14	92021679	92021679	Human	1	name
405108436	CV3041620	single nucleotide variant	NM_004239.4(TRIP11):c.384T>C (p.Ala128=)	Achondrogenesis, type IA [RCV003615062]	likely benign	14	92021760	92021760	Human	1	name
405108879	CV3051163	single nucleotide variant	NM_004239.4(TRIP11):c.429A>G (p.Ser143=)	Achondrogenesis, type IA [RCV003615156]	likely benign	14	92021715	92021715	Human	1	name
405109818	CV3065239	single nucleotide variant	NM_004239.4(TRIP11):c.567C>T (p.Gly189=)	Achondrogenesis, type IA [RCV003615337]	likely benign	14	92021577	92021577	Human	1	name
405110087	CV3078818	deletion	NM_004239.4(TRIP11):c.4698+17_4698+22del	Achondrogenesis, type IA [RCV003615413]	likely benign	14	91999946	91999951	Human	1	name
11621956	CV331129	single nucleotide variant	NM_004239.4(TRIP11):c.438C>T (p.Phe146=)	Achondrogenesis, type IA [RCV000354648]\|TRIP11-related disorder [RCV003957634]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92021706	92021706	Human	2	name , trait , alternate_id
11619373	CV337896	single nucleotide variant	NM_004239.4(TRIP11):c.405T>C (p.Ala135=)	Achondrogenesis, type IA [RCV000555883]\|Connective tissue disorder [RCV002278418]\|not provided [RCV001812831]\|not specified [RCV000439731]	benign\|likely benign	14	92021739	92021739	Human	2	name
12838434	CV374411	single nucleotide variant	NM_004239.4(TRIP11):c.492T>C (p.Phe164=)	Achondrogenesis, type IA [RCV000953690]\|not provided [RCV001704517]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	92021652	92021652	Human	1	name
597947438	CV3817902	single nucleotide variant	NM_004239.4(TRIP11):c.966A>G (p.Leu322=)	Achondrogenesis, type IA [RCV005160369]	likely benign	14	92014435	92014435	Human	1	name
597944713	CV3847955	single nucleotide variant	NM_004239.4(TRIP11):c.696T>C (p.His232=)	Achondrogenesis, type IA [RCV005188685]	likely benign	14	92015823	92015823	Human	1	name
597965450	CV3848360	single nucleotide variant	NM_004239.4(TRIP11):c.717G>A (p.Leu239=)	Achondrogenesis, type IA [RCV005194240]	likely benign	14	92015802	92015802	Human	1	name
598188656	CV4008611	single nucleotide variant	NM_004239.4(TRIP11):c.31G>A (p.Gly11Arg)	Achondrogenesis, type IA [RCV005396110]	uncertain significance	14	92039655	92039655	Human	1	name
13532798	CV504919	single nucleotide variant	NM_004239.4(TRIP11):c.754C>A (p.Arg252=)	Achondrogenesis, type IA [RCV001120674]\|not specified [RCV000601478]	benign\|likely benign	14	92015765	92015765	Human	1	name
13838167	CV589463	single nucleotide variant	NM_004239.4(TRIP11):c.660A>G (p.Glu220=)	not provided [RCV000734784]	uncertain significance	14	92015859	92015859	Human		name
14703791	CV642788	single nucleotide variant	NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser)	Achondrogenesis, type IA [RCV000795200]\|Inborn genetic diseases [RCV002536996]	uncertain significance	14	92039625	92039625	Human	2	name
15118543	CV754211	single nucleotide variant	NM_004239.4(TRIP11):c.831T>G (p.Ser277=)	not provided [RCV000917993]	likely benign	14	92014570	92014570	Human		name
15194787	CV754212	single nucleotide variant	NM_004239.4(TRIP11):c.783T>C (p.Tyr261=)	Achondrogenesis, type IA [RCV000911224]	likely benign	14	92015736	92015736	Human	1	name
15186672	CV769954	single nucleotide variant	NM_004239.4(TRIP11):c.477C>T (p.Asp159=)	Achondrogenesis, type IA [RCV001115755]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92021667	92021667	Human	1	name
126740973	CV1031789	single nucleotide variant	NM_004239.4(TRIP11):c.280A>G (p.Thr94Ala)	Achondrogenesis, type IA [RCV001350815]	uncertain significance	14	92025342	92025342	Human	1	name
127241618	CV1102646	single nucleotide variant	NM_004239.4(TRIP11):c.2595G>A (p.Leu865=)	Achondrogenesis, type IA [RCV001423590]	likely benign	14	92005381	92005381	Human	1	name
127286522	CV1144928	single nucleotide variant	NM_004239.4(TRIP11):c.2916T>C (p.Ile972=)	Achondrogenesis, type IA [RCV001494332]	likely benign	14	92005060	92005060	Human	1	name
150422554	CV1181204	single nucleotide variant	NM_004239.4(TRIP11):c.2871C>G (p.Leu957=)	not provided [RCV001552800]	likely benign	14	92005105	92005105	Human		name
150418806	CV1181209	insertion	NM_004239.4(TRIP11):c.202-97_202-96insGCG	not provided [RCV001550764]	likely benign	14	92025516	92025517	Human		name
150428859	CV1188173	insertion	NM_004239.4(TRIP11):c.5574+85_5574+86insG	not provided [RCV001562819]	likely benign	14	91974541	91974542	Human		name
151884207	CV1366654	single nucleotide variant	NM_004239.4(TRIP11):c.2907A>G (p.Gln969=)	Achondrogenesis, type IA [RCV001941679]	likely benign	14	92005069	92005069	Human	1	name
151784838	CV1454685	single nucleotide variant	NM_004239.4(TRIP11):c.1818T>C (p.Asn606=)	Achondrogenesis, type IA [RCV001972427]	likely benign	14	92006158	92006158	Human	1	name
151784726	CV1481447	deletion	NM_004239.4(TRIP11):c.922del (p.Met308fs)	Achondrogenesis, type IA [RCV001951419]	pathogenic	14	92014479	92014479	Human	1	name
151756256	CV1496912	single nucleotide variant	NM_004239.4(TRIP11):c.1272C>T (p.Ile424=)	Achondrogenesis, type IA [RCV001913475]	likely benign	14	92011028	92011028	Human	1	name
152086031	CV1531649	single nucleotide variant	NM_004239.4(TRIP11):c.1530C>T (p.His510=)	Achondrogenesis, type IA [RCV002076994]	likely benign	14	92006446	92006446	Human	1	name
152066071	CV1565058	single nucleotide variant	NM_004239.4(TRIP11):c.1578T>C (p.Asp526=)	Achondrogenesis, type IA [RCV002090938]	likely benign	14	92006398	92006398	Human	1	name
152058244	CV1567478	single nucleotide variant	NM_004239.4(TRIP11):c.1173A>G (p.Gln391=)	Achondrogenesis, type IA [RCV002146487]	likely benign	14	92014228	92014228	Human	1	name
152172116	CV1575730	single nucleotide variant	NM_004239.4(TRIP11):c.1030A>C (p.Arg344=)	Achondrogenesis, type IA [RCV002183734]	likely benign	14	92014371	92014371	Human	1	name
152107032	CV1605224	single nucleotide variant	NM_004239.4(TRIP11):c.2655T>G (p.Pro885=)	Achondrogenesis, type IA [RCV002196288]	likely benign	14	92005321	92005321	Human	1	name
152133922	CV1607697	single nucleotide variant	NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu)	Achondrogenesis, type IA [RCV002119441]\|Connective tissue disorder [RCV002277018]	likely benign	14	92025408	92025408	Human	2	name
152107183	CV1609760	single nucleotide variant	NM_004239.4(TRIP11):c.1098G>A (p.Lys366=)	Achondrogenesis, type IA [RCV002116073]	benign	14	92014303	92014303	Human	1	name
152042153	CV1624189	single nucleotide variant	NM_004239.4(TRIP11):c.2391A>G (p.Ser797=)	Achondrogenesis, type IA [RCV002126229]	likely benign	14	92005585	92005585	Human	1	name
152070890	CV1630599	single nucleotide variant	NM_004239.4(TRIP11):c.2016T>A (p.Ala672=)	Achondrogenesis, type IA [RCV002129606]\|Connective tissue disorder [RCV002277022]	benign\|uncertain significance	14	92005960	92005960	Human	2	name
152056795	CV1635101	single nucleotide variant	NM_004239.4(TRIP11):c.1317A>G (p.Glu439=)	Achondrogenesis, type IA [RCV002089805]	likely benign	14	92007850	92007850	Human	1	name
152066319	CV1646990	single nucleotide variant	NM_004239.4(TRIP11):c.1833G>A (p.Glu611=)	Achondrogenesis, type IA [RCV002129023]	likely benign	14	92006143	92006143	Human	1	name
156051074	CV1869041	single nucleotide variant	NM_004239.4(TRIP11):c.1743T>A (p.Leu581=)	Achondrogenesis, type IA [RCV003053000]	likely benign	14	92006233	92006233	Human	1	name
156320144	CV1872986	single nucleotide variant	NM_004239.4(TRIP11):c.2637C>T (p.Thr879=)	Achondrogenesis, type IA [RCV003063006]	likely benign	14	92005339	92005339	Human	1	name
156349995	CV1873326	single nucleotide variant	NM_004239.4(TRIP11):c.1605T>C (p.Asp535=)	Achondrogenesis, type IA [RCV003064769]	likely benign	14	92006371	92006371	Human	1	name
156151388	CV1879006	single nucleotide variant	NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu)	Achondrogenesis, type IA [RCV003056545]	uncertain significance	14	92033208	92033208	Human	1	name
155970664	CV1885037	single nucleotide variant	NM_004239.4(TRIP11):c.1179A>C (p.Ala393=)	Achondrogenesis, type IA [RCV003075161]	likely benign	14	92014222	92014222	Human	1	name
156230859	CV1885098	single nucleotide variant	NM_004239.4(TRIP11):c.2289T>C (p.His763=)	Achondrogenesis, type IA [RCV003085359]	likely benign	14	92005687	92005687	Human	1	name
156437306	CV1937444	duplication	NM_004239.4(TRIP11):c.877dup (p.Thr293fs)	Achondrogenesis, type IA [RCV003106837]	pathogenic	14	92014523	92014524	Human	1	name
156178692	CV1953317	single nucleotide variant	NM_004239.4(TRIP11):c.2700A>G (p.Gln900=)	Achondrogenesis, type IA [RCV002574045]	likely benign	14	92005276	92005276	Human	1	name
156115519	CV1958277	single nucleotide variant	NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu)	Achondrogenesis, type IA [RCV002592931]	uncertain significance	14	92025360	92025360	Human	1	name
156166465	CV2056627	single nucleotide variant	NM_004239.4(TRIP11):c.218A>G (p.Lys73Arg)	Achondrogenesis, type IA [RCV002801817]	uncertain significance	14	92025404	92025404	Human	1	name
155954409	CV2073510	single nucleotide variant	NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser)	Achondrogenesis, type IA [RCV002816440]	uncertain significance	14	92025412	92025412	Human	1	name
156046976	CV2093329	single nucleotide variant	NM_004239.4(TRIP11):c.1812G>A (p.Lys604=)	Achondrogenesis, type IA [RCV002867649]	likely benign	14	92006164	92006164	Human	1	name
156112243	CV2104445	single nucleotide variant	NM_004239.4(TRIP11):c.2044T>C (p.Leu682=)	Achondrogenesis, type IA [RCV002927482]	likely benign	14	92005932	92005932	Human	1	name
155959269	CV2131675	single nucleotide variant	NM_004239.4(TRIP11):c.1788A>G (p.Gln596=)	Achondrogenesis, type IA [RCV002995072]	likely benign	14	92006188	92006188	Human	1	name
156018958	CV2151645	single nucleotide variant	NM_004239.4(TRIP11):c.2610A>G (p.Glu870=)	Achondrogenesis, type IA [RCV003018134]	likely benign	14	92005366	92005366	Human	1	name
155949877	CV2158859	single nucleotide variant	NM_004239.4(TRIP11):c.1974T>C (p.Leu658=)	Achondrogenesis, type IA [RCV003014790]	likely benign	14	92006002	92006002	Human	1	name
156172445	CV2188267	single nucleotide variant	NM_004239.4(TRIP11):c.178A>G (p.Ile60Val)	Achondrogenesis, type IA [RCV003041074]	uncertain significance	14	92033215	92033215	Human	1	name
11636701	CV273930	single nucleotide variant	NM_004239.4(TRIP11):c.1191C>G (p.Ala397=)	not provided [RCV000273339]	uncertain significance	14	92011791	92011791	Human		name
402474800	CV2854917	single nucleotide variant	NM_004239.4(TRIP11):c.2853C>T (p.Asn951=)	Achondrogenesis, type IA [RCV003505505]	likely benign	14	92005123	92005123	Human	1	name
405088458	CV2963644	single nucleotide variant	NM_004239.4(TRIP11):c.1731C>T (p.Thr577=)	Achondrogenesis, type IA [RCV003613534]	likely benign	14	92006245	92006245	Human	1	name
405107084	CV3006847	single nucleotide variant	NM_004239.4(TRIP11):c.2883G>A (p.Lys961=)	Achondrogenesis, type IA [RCV003614763]	likely benign	14	92005093	92005093	Human	1	name
405108164	CV3024431	single nucleotide variant	NM_004239.4(TRIP11):c.2547G>A (p.Glu849=)	Achondrogenesis, type IA [RCV003615000]	likely benign	14	92005429	92005429	Human	1	name
405108706	CV3046485	single nucleotide variant	NM_004239.4(TRIP11):c.2247A>G (p.Ala749=)	Achondrogenesis, type IA [RCV003615119]	likely benign	14	92005729	92005729	Human	1	name
405109836	CV3065442	single nucleotide variant	NM_004239.4(TRIP11):c.2985A>G (p.Gln995=)	Achondrogenesis, type IA [RCV003615340]	likely benign	14	92004991	92004991	Human	1	name
405110400	CV3066036	single nucleotide variant	NM_004239.4(TRIP11):c.1191C>T (p.Ala397=)	Achondrogenesis, type IA [RCV003615371]	likely benign	14	92011791	92011791	Human	1	name
405128016	CV3132948	single nucleotide variant	NM_004239.4(TRIP11):c.2421A>G (p.Thr807=)	Achondrogenesis, type IA [RCV003838111]	likely benign	14	92005555	92005555	Human	1	name
405110614	CV3133170	single nucleotide variant	NM_004239.4(TRIP11):c.1887G>A (p.Gln629=)	Achondrogenesis, type IA [RCV003836156]	likely benign	14	92006089	92006089	Human	1	name
405219260	CV3154236	single nucleotide variant	NM_004239.4(TRIP11):c.2605T>C (p.Leu869=)	Achondrogenesis, type IA [RCV003846928]	likely benign	14	92005371	92005371	Human	1	name
405235037	CV3168562	single nucleotide variant	NM_004239.4(TRIP11):c.2875T>C (p.Leu959=)	Achondrogenesis, type IA [RCV003866036]	likely benign	14	92005101	92005101	Human	1	name
11607987	CV321802	single nucleotide variant	NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)	Achondrogenesis, type IA [RCV001079434]\|TRIP11-related disorder [RCV003910187]\|not provided [RCV000731242]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92006202	92006202	Human	2	name , trait , alternate_id
11619465	CV331111	single nucleotide variant	NM_004239.4(TRIP11):c.2829T>C (p.Phe943=)	Achondrogenesis, type IA [RCV000325942]	conflicting interpretations of pathogenicity\|uncertain significance	14	92005147	92005147	Human	1	name
11620423	CV331125	single nucleotide variant	NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=)	Achondrogenesis, type IA [RCV000972512]\|Connective tissue disorder [RCV002278413]\|not provided [RCV003736713]\|not specified [RCV000604317]	benign\|likely benign	14	92005759	92005759	Human	2	name
11619787	CV337868	single nucleotide variant	NM_004239.4(TRIP11):c.2667T>C (p.Asp889=)	Achondrogenesis, type IA [RCV000329288]\|not provided [RCV001564159]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92005309	92005309	Human	1	name
11623185	CV339879	single nucleotide variant	NM_004239.4(TRIP11):c.2931C>T (p.Thr977=)	Achondrogenesis, type IA [RCV000968636]\|Connective tissue disorder [RCV002278410]\|not provided [RCV001812828]\|not specified [RCV000420279]	benign\|likely benign	14	92005045	92005045	Human	2	name
11626078	CV339894	single nucleotide variant	NM_004239.4(TRIP11):c.1689G>A (p.Lys563=)	Achondrogenesis, type IA [RCV000406532]	uncertain significance	14	92006287	92006287	Human	1	name
11624338	CV339902	single nucleotide variant	NM_004239.4(TRIP11):c.115A>T (p.Met39Leu)	Achondrogenesis, type IA [RCV000384439]\|not provided [RCV001812832]\|not specified [RCV000434104]	benign\|likely benign	14	92039571	92039571	Human	1	name
11615905	CV339906	single nucleotide variant	NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)	Achondrogenesis, type IA [RCV000892129]\|Achondrogenesis, type IA [RCV002504082]\|Connective tissue disorder [RCV002278420]\|TRIP11-related disorder [RCV003950072]\|not provided [RCV005230246]\|not specified [RCV000604722]	benign\|likely benign\|uncertain significance	14	92039579	92039579	Human	4	name , trait , alternate_id
597625276	CV3614710	single nucleotide variant	NM_004239.4(TRIP11):c.297A>T (p.Gln99His)	Inborn genetic diseases [RCV004964465]	uncertain significance	14	92025325	92025325	Human	1	name
12839996	CV374415	single nucleotide variant	NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu)	Achondrogenesis, type IA [RCV000883328]\|TRIP11-related disorder [RCV003925300]\|not provided [RCV001696839]	likely benign	14	92025405	92025405	Human	2	name , trait , alternate_id
597929229	CV3749231	single nucleotide variant	NM_004239.4(TRIP11):c.1233C>T (p.Asn411=)	Achondrogenesis, type IA [RCV005075687]	likely benign	14	92011067	92011067	Human	1	name
597836470	CV3757692	single nucleotide variant	NM_004239.4(TRIP11):c.2238G>A (p.Leu746=)	Achondrogenesis, type IA [RCV005085706]	likely benign	14	92005738	92005738	Human	1	name
597968119	CV3790645	single nucleotide variant	NM_004239.4(TRIP11):c.1752A>G (p.Lys584=)	Achondrogenesis, type IA [RCV005140876]	uncertain significance	14	92006224	92006224	Human	1	name
597876307	CV3813207	single nucleotide variant	NM_004239.4(TRIP11):c.2835C>T (p.Tyr945=)	Achondrogenesis, type IA [RCV005149143]	likely benign	14	92005141	92005141	Human	1	name
597974756	CV3831824	single nucleotide variant	NM_004239.4(TRIP11):c.1300C>T (p.Leu434=)	Achondrogenesis, type IA [RCV005168763]	likely benign	14	92011000	92011000	Human	1	name
597917650	CV3842120	single nucleotide variant	NM_004239.4(TRIP11):c.1057T>C (p.Leu353=)	Achondrogenesis, type IA [RCV005183795]	likely benign	14	92014344	92014344	Human	1	name
597954348	CV3844398	single nucleotide variant	NM_004239.4(TRIP11):c.236A>G (p.Glu79Gly)	Achondrogenesis, type IA [RCV005191071]	uncertain significance	14	92025386	92025386	Human	1	name
13436223	CV433990	single nucleotide variant	NM_004239.4(TRIP11):c.203A>T (p.Asn68Ile)	Inborn genetic diseases [RCV002524928]\|not specified [RCV000506794]	uncertain significance	14	92025419	92025419	Human	1	name
14713693	CV642787	single nucleotide variant	NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg)	Achondrogenesis, type IA [RCV000824231]\|Inborn genetic diseases [RCV003259000]	uncertain significance	14	92025399	92025399	Human	2	name
15157404	CV725861	single nucleotide variant	NM_004239.4(TRIP11):c.1146A>G (p.Ala382=)	Achondrogenesis, type IA [RCV001120670]\|not provided [RCV000880813]	likely benign\|uncertain significance	14	92014255	92014255	Human	1	name
15158383	CV739395	single nucleotide variant	NM_004239.4(TRIP11):c.2382C>T (p.Asp794=)	Achondrogenesis, type IA [RCV000902723]\|TRIP11-related disorder [RCV003910775]\|not provided [RCV003392684]	likely benign	14	92005594	92005594	Human	2	name , trait , alternate_id
15179165	CV739396	single nucleotide variant	NM_004239.4(TRIP11):c.2226C>T (p.Thr742=)	Achondrogenesis, type IA [RCV002068656]	likely benign	14	92005750	92005750	Human	1	name
15158288	CV754210	single nucleotide variant	NM_004239.4(TRIP11):c.2622A>G (p.Glu874=)	not provided [RCV000925038]	likely benign	14	92005354	92005354	Human		name
21405731	CV799787	single nucleotide variant	NM_004239.4(TRIP11):c.1587C>T (p.Ile529=)	Achondrogenesis, type IA [RCV001463973]\|TRIP11-related disorder [RCV003898025]\|not specified [RCV001001074]	likely benign	14	92006389	92006389	Human	2	name , trait , alternate_id
28879033	CV872956	single nucleotide variant	NM_004239.4(TRIP11):c.1935A>G (p.Lys645=)	Achondrogenesis, type IA [RCV001117092]	uncertain significance	14	92006041	92006041	Human	1	name
41405274	CV981889	single nucleotide variant	NM_004239.4(TRIP11):c.111G>A (p.Met37Ile)	not provided [RCV001812503]	uncertain significance	14	92039575	92039575	Human		name
126747503	CV1017860	single nucleotide variant	NM_004239.4(TRIP11):c.389C>A (p.Ser130Ter)	Achondrogenesis, type IA [RCV001331175]	pathogenic	14	92021755	92021755	Human		name
126729679	CV1021264	deletion	NM_004239.4(TRIP11):c.1661del (p.Thr554fs)	Achondrogenesis, type IA [RCV001333211]	pathogenic	14	92006315	92006315	Human		name
127258251	CV1080827	single nucleotide variant	NM_004239.4(TRIP11):c.3327T>C (p.Thr1109=)	Achondrogenesis, type IA [RCV001401657]	likely benign	14	92004649	92004649	Human	1	name
127314696	CV1124064	single nucleotide variant	NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=)	Achondrogenesis, type IA [RCV001457776]\|not provided [RCV003738075]	likely benign	14	91993845	91993845	Human	1	name
127303897	CV1144926	single nucleotide variant	NM_004239.4(TRIP11):c.5007T>C (p.Tyr1669=)	Achondrogenesis, type IA [RCV001499506]	likely benign	14	91995401	91995401	Human	1	name
127305325	CV1144927	single nucleotide variant	NM_004239.4(TRIP11):c.4968G>A (p.Ala1656=)	Achondrogenesis, type IA [RCV001499885]	likely benign	14	91995440	91995440	Human	1	name
150335349	CV1172653	duplication	NM_004239.4(TRIP11):c.5575-182_5575-179dup	not provided [RCV001540518]	likely benign	14	91973025	91973026	Human		name
150422944	CV1181202	duplication	NM_004239.4(TRIP11):c.5575-182_5575-181dup	not provided [RCV001553337]	likely benign	14	91973025	91973026	Human		name
150422794	CV1181208	single nucleotide variant	NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn)	Connective tissue disorder [RCV002276780]\|Inborn genetic diseases [RCV004039303]\|not provided [RCV001553122]	uncertain significance	14	92014453	92014453	Human	2	name
150404679	CV1194890	duplication	NM_004239.4(TRIP11):c.5160+310_5160+311dup	not provided [RCV001571287]	likely benign	14	91993476	91993477	Human		name
150475902	CV1202310	microsatellite	NM_004239.4(TRIP11):c.5719+148_5719+168del	not provided [RCV001589554]	likely benign	14	91972549	91972569	Human		name
151730966	CV1241940	single nucleotide variant	NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter)	Achondrogenesis, type IA [RCV001844309]	pathogenic	14	92015756	92015756	Human	1	name
150461359	CV1253231	deletion	NM_004239.4(TRIP11):c.1227+259_1227+271del	not provided [RCV001669560]	benign	14	92011484	92011496	Human		name
150476171	CV1271296	deletion	NM_004239.4(TRIP11):c.1187-218_1187-217del	not provided [RCV001696119]	benign	14	92012012	92012013	Human		name
150476115	CV1279192	duplication	NM_004239.4(TRIP11):c.1227+246_1227+247dup	not provided [RCV001713937]	benign	14	92011483	92011484	Human		name
151661278	CV1329799	single nucleotide variant	NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter)	Achondrogenesis, type IA [RCV001822983]	pathogenic	14	92021618	92021618	Human	1	name
151794862	CV1338424	single nucleotide variant	NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln)	Achondrogenesis, type IA [RCV001898522]	uncertain significance	14	92025315	92025315	Human	1	name
151763349	CV1384370	single nucleotide variant	NM_004239.4(TRIP11):c.392T>A (p.Val131Glu)	Achondrogenesis, type IA [RCV001987530]	uncertain significance	14	92021752	92021752	Human	1	name
151711844	CV1401438	single nucleotide variant	NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu)	Achondrogenesis, type IA [RCV001964459]	uncertain significance	14	92021558	92021558	Human	1	name
151765139	CV1407756	duplication	NM_004239.4(TRIP11):c.2123dup (p.Asn708fs)	Achondrogenesis, type IA [RCV002044703]	pathogenic	14	92005852	92005853	Human	1	name
151721722	CV1421824	single nucleotide variant	NM_004239.4(TRIP11):c.911C>T (p.Ser304Phe)	Achondrogenesis, type IA [RCV001909837]\|not provided [RCV005232712]	uncertain significance	14	92014490	92014490	Human	1	name
151754033	CV1429431	duplication	NM_004239.4(TRIP11):c.1987dup (p.Gln663fs)	Achondrogenesis, type IA [RCV002007149]	pathogenic	14	92005988	92005989	Human	1	name
151841880	CV1435973	single nucleotide variant	NM_004239.4(TRIP11):c.633A>G (p.Ile211Met)	Achondrogenesis, type IA [RCV001956854]	uncertain significance	14	92017706	92017706	Human	1	name
151845678	CV1437781	single nucleotide variant	NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln)	Achondrogenesis, type IA [RCV001903395]\|not provided [RCV005429366]	uncertain significance	14	92015845	92015845	Human	1	name
151835255	CV1471429	single nucleotide variant	NM_004239.4(TRIP11):c.3903C>T (p.Thr1301=)	Achondrogenesis, type IA [RCV001956091]	likely benign	14	92004073	92004073	Human	1	name
151790717	CV1475387	single nucleotide variant	NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro)	Achondrogenesis, type IA [RCV001973025]	uncertain significance	14	92015803	92015803	Human	1	name
151730996	CV1489648	deletion	NM_004239.4(TRIP11):c.2123del (p.Asn708fs)	Achondrogenesis, type IA [RCV001910868]	pathogenic	14	92005853	92005853	Human	1	name
151846002	CV1494957	single nucleotide variant	NM_004239.4(TRIP11):c.5160G>A (p.Gln1720=)	Achondrogenesis, type IA [RCV001978283]	uncertain significance	14	91993809	91993809	Human	1	name
151723990	CV1507817	single nucleotide variant	NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu)	Achondrogenesis, type IA [RCV001983454]\|Inborn genetic diseases [RCV004045303]	uncertain significance	14	92021813	92021813	Human	2	name
152039123	CV1555157	single nucleotide variant	NM_004239.4(TRIP11):c.5188T>C (p.Leu1730=)	Achondrogenesis, type IA [RCV002107472]	likely benign	14	91988356	91988356	Human	1	name
152072872	CV1556477	single nucleotide variant	NM_004239.4(TRIP11):c.4266A>G (p.Gln1422=)	Achondrogenesis, type IA [RCV002111697]\|TRIP11-related disorder [RCV003893308]	likely benign	14	92003710	92003710	Human	2	name , trait , alternate_id
152060946	CV1557498	single nucleotide variant	NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=)	Achondrogenesis, type IA [RCV002146767]\|not provided [RCV004809771]	likely benign	14	91972799	91972799	Human	1	name
152037590	CV1576353	single nucleotide variant	NM_004239.4(TRIP11):c.4339C>T (p.Leu1447=)	Achondrogenesis, type IA [RCV002107250]	likely benign	14	92003637	92003637	Human	1	name
152145349	CV1582653	single nucleotide variant	NM_004239.4(TRIP11):c.3216T>C (p.His1072=)	Achondrogenesis, type IA [RCV002201154]	likely benign	14	92004760	92004760	Human	1	name
152137915	CV1603823	single nucleotide variant	NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser)	Achondrogenesis, type IA [RCV002218973]	benign	14	92021568	92021568	Human	1	name
152062476	CV1612449	single nucleotide variant	NM_004239.4(TRIP11):c.5400T>C (p.His1800=)	Achondrogenesis, type IA [RCV002168169]\|TRIP11-related disorder [RCV003958511]	likely benign	14	91975229	91975229	Human	2	name , trait , alternate_id
152068410	CV1613538	single nucleotide variant	NM_004239.4(TRIP11):c.3864A>G (p.Leu1288=)	Achondrogenesis, type IA [RCV002074763]	likely benign	14	92004112	92004112	Human	1	name
152084906	CV1622970	single nucleotide variant	NM_004239.4(TRIP11):c.4149A>G (p.Leu1383=)	Achondrogenesis, type IA [RCV002113251]	likely benign	14	92003827	92003827	Human	1	name
152141657	CV1625338	single nucleotide variant	NM_004239.4(TRIP11):c.3669G>A (p.Glu1223=)	Achondrogenesis, type IA [RCV002219455]	likely benign	14	92004307	92004307	Human	1	name
152143406	CV1636667	single nucleotide variant	NM_004239.4(TRIP11):c.5805A>G (p.Pro1935=)	Achondrogenesis, type IA [RCV002120683]	likely benign	14	91969808	91969808	Human	1	name
152034716	CV1639547	single nucleotide variant	NM_004239.4(TRIP11):c.4983C>T (p.Val1661=)	Achondrogenesis, type IA [RCV002187302]	likely benign	14	91995425	91995425	Human	1	name
152116685	CV1645758	single nucleotide variant	NM_004239.4(TRIP11):c.4434A>G (p.Glu1478=)	Achondrogenesis, type IA [RCV002175024]	likely benign	14	92003542	92003542	Human	1	name
152066754	CV1647069	single nucleotide variant	NM_004239.4(TRIP11):c.4128G>A (p.Ser1376=)	Achondrogenesis, type IA [RCV002129079]	likely benign	14	92003848	92003848	Human	1	name
152083757	CV1647939	single nucleotide variant	NM_004239.4(TRIP11):c.4965T>G (p.Thr1655=)	Achondrogenesis, type IA [RCV002076715]	likely benign	14	91995443	91995443	Human	1	name
152058788	CV1652090	single nucleotide variant	NM_004239.4(TRIP11):c.5922A>G (p.Lys1974=)	Achondrogenesis, type IA [RCV002190277]	likely benign	14	91969691	91969691	Human	1	name
152115571	CV1654112	single nucleotide variant	NM_004239.4(TRIP11):c.3165T>C (p.Gly1055=)	Achondrogenesis, type IA [RCV002097432]	likely benign	14	92004811	92004811	Human	1	name
152057041	CV1656481	single nucleotide variant	NM_004239.4(TRIP11):c.3441T>C (p.Phe1147=)	Achondrogenesis, type IA [RCV002109670]\|TRIP11-related disorder [RCV003913687]	likely benign	14	92004535	92004535	Human	2	name , trait , alternate_id
156219946	CV1879190	single nucleotide variant	NM_004239.4(TRIP11):c.3054G>A (p.Thr1018=)	Achondrogenesis, type IA [RCV003058891]	likely benign	14	92004922	92004922	Human	1	name
156406601	CV1891205	single nucleotide variant	NM_004239.4(TRIP11):c.3708A>G (p.Gln1236=)	Achondrogenesis, type IA [RCV003070425]	likely benign	14	92004268	92004268	Human	1	name
156417697	CV1909976	single nucleotide variant	NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=)	Achondrogenesis, type IA [RCV002610857]	likely benign	14	92003665	92003665	Human	1	name
156440701	CV1943762	single nucleotide variant	NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=)	Achondrogenesis, type IA [RCV003110738]	likely benign	14	91988345	91988345	Human	1	name
10052140	CV194390	single nucleotide variant	NM_004239.4(TRIP11):c.499A>G (p.Ile167Val)	not provided [RCV000178207]	uncertain significance	14	92021645	92021645	Human		name
10052141	CV194391	single nucleotide variant	NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)	Achondrogenesis, type IA [RCV000684947]\|Connective tissue disorder [RCV002277400]\|not provided [RCV000178208]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92021762	92021762	Human	2	name
156117469	CV1952452	duplication	NM_004239.4(TRIP11):c.2448dup (p.Ile817fs)	Achondrogenesis, type IA [RCV002571730]	pathogenic	14	92005527	92005528	Human	1	name
156280651	CV1964367	single nucleotide variant	NM_004239.4(TRIP11):c.4230G>A (p.Lys1410=)	Achondrogenesis, type IA [RCV002577467]	likely benign	14	92003746	92003746	Human	1	name
156399866	CV1982180	single nucleotide variant	NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu)	Achondrogenesis, type IA [RCV002635866]	uncertain significance	14	92021611	92021611	Human	1	name
156402932	CV1988816	single nucleotide variant	NM_004239.4(TRIP11):c.379G>C (p.Ala127Pro)	Achondrogenesis, type IA [RCV002605802]	uncertain significance	14	92021765	92021765	Human	1	name
155921818	CV1991346	single nucleotide variant	NM_004239.4(TRIP11):c.4413A>G (p.Thr1471=)	Achondrogenesis, type IA [RCV002614595]	likely benign	14	92003563	92003563	Human	1	name
156390937	CV1995468	single nucleotide variant	NM_004239.4(TRIP11):c.4012T>C (p.Leu1338=)	Achondrogenesis, type IA [RCV002680755]	likely benign	14	92003964	92003964	Human	1	name
156001351	CV2018626	single nucleotide variant	NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn)	Achondrogenesis, type IA [RCV002690073]	uncertain significance	14	92015831	92015831	Human	1	name
156098764	CV2042076	single nucleotide variant	NM_004239.4(TRIP11):c.4194A>G (p.Leu1398=)	Achondrogenesis, type IA [RCV002761235]	likely benign	14	92003782	92003782	Human	1	name
8596822	CV20547	single nucleotide variant	NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)	Achondrogenesis, type IA [RCV000005843]\|Odontochondrodysplasia 1 [RCV000757981]	pathogenic	14	92015729	92015729	Human	2	name
156354295	CV2066255	single nucleotide variant	NM_004239.4(TRIP11):c.3756G>A (p.Gln1252=)	Achondrogenesis, type IA [RCV002812018]	likely benign	14	92004220	92004220	Human	1	name
156322773	CV2067722	single nucleotide variant	NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg)	Achondrogenesis, type IA [RCV002834817]	uncertain significance	14	92017735	92017735	Human	1	name
156000143	CV2074571	single nucleotide variant	NM_004239.4(TRIP11):c.5155T>C (p.Leu1719=)	Achondrogenesis, type IA [RCV002843366]	likely benign	14	91993814	91993814	Human	1	name
156258440	CV2090151	single nucleotide variant	NM_004239.4(TRIP11):c.4536G>A (p.Gln1512=)	Achondrogenesis, type IA [RCV002877184]	likely benign	14	92003440	92003440	Human	1	name
156199092	CV2092409	single nucleotide variant	NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=)	Achondrogenesis, type IA [RCV002917722]	likely benign	14	91969859	91969859	Human	1	name
156167116	CV2102263	single nucleotide variant	NM_004239.4(TRIP11):c.4020A>G (p.Glu1340=)	Achondrogenesis, type IA [RCV002891208]	likely benign	14	92003956	92003956	Human	1	name
156293544	CV2111533	single nucleotide variant	NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe)	Achondrogenesis, type IA [RCV002922253]\|Inborn genetic diseases [RCV005301199]	uncertain significance	14	92021795	92021795	Human	2	name
156159251	CV2118561	single nucleotide variant	NM_004239.4(TRIP11):c.5568T>A (p.Val1856=)	Achondrogenesis, type IA [RCV002929181]	likely benign	14	91974633	91974633	Human	1	name
156204714	CV2179223	single nucleotide variant	NM_004239.4(TRIP11):c.5211A>G (p.Thr1737=)	Achondrogenesis, type IA [RCV003024576]	likely benign	14	91988333	91988333	Human	1	name
156235732	CV2224065	single nucleotide variant	NM_004239.4(TRIP11):c.517G>C (p.Glu173Gln)	Inborn genetic diseases [RCV002713053]	uncertain significance	14	92021627	92021627	Human	1	name
155944268	CV2295074	single nucleotide variant	NM_004239.4(TRIP11):c.800A>G (p.Glu267Gly)	Inborn genetic diseases [RCV002880023]	uncertain significance	14	92015719	92015719	Human	1	name
156269194	CV2398555	single nucleotide variant	NM_004239.4(TRIP11):c.481G>C (p.Asp161His)	Inborn genetic diseases [RCV002769930]	uncertain significance	14	92021663	92021663	Human	1	name
243064204	CV2411251	single nucleotide variant	NM_004239.4(TRIP11):c.720G>C (p.Gln240His)	not provided [RCV003142823]	uncertain significance	14	92015799	92015799	Human		name
329394446	CV2469876	single nucleotide variant	NM_004239.4(TRIP11):c.922A>G (p.Met308Val)	Inborn genetic diseases [RCV003218799]	uncertain significance	14	92014479	92014479	Human	1	name
11636238	CV266817	single nucleotide variant	NM_004239.4(TRIP11):c.950A>T (p.Asp317Val)	Achondrogenesis, type IA [RCV001120672]\|Connective tissue disorder [RCV002278271]\|Inborn genetic diseases [RCV002519114]\|not provided [RCV000264098]	uncertain significance	14	92014451	92014451	Human	3	name
11643137	CV266928	single nucleotide variant	NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=)	Achondrogenesis, type IA [RCV001086094]\|not provided [RCV000388307]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92003803	92003803	Human	1	name
11638312	CV267366	single nucleotide variant	NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)	Achondrogenesis, type IA [RCV001080898]\|not provided [RCV000299952]\|not specified [RCV004800372]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92000046	92000046	Human	1	name
401765781	CV2717858	single nucleotide variant	NM_004239.4(TRIP11):c.811C>G (p.Leu271Val)	Inborn genetic diseases [RCV003282362]	uncertain significance	14	92015708	92015708	Human	1	name
11643406	CV273899	single nucleotide variant	NM_004239.4(TRIP11):c.5937A>G (p.Gln1979=)	not provided [RCV000392733]	uncertain significance	14	91969676	91969676	Human		name
401863794	CV2773335	single nucleotide variant	NM_004239.4(TRIP11):c.677G>A (p.Ser226Asn)	Inborn genetic diseases [RCV003378777]	uncertain significance	14	92015842	92015842	Human	1	name
401933574	CV2802081	single nucleotide variant	NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)	Achondrogenesis, type IA [RCV004577574]\|TRIP11-related disorder [RCV003410448]	pathogenic\|likely pathogenic	14	92015762	92015762	Human	2	name , trait , alternate_id
402474762	CV2858493	single nucleotide variant	NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)	Achondrogenesis, type IA [RCV003505498]\|Inborn genetic diseases [RCV004963684]\|TRIP11-related disorder [RCV003901102]	uncertain significance	14	92014440	92014440	Human	3	name , trait , alternate_id
402475094	CV2931913	duplication	NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)	Achondrogenesis, type IA [RCV003505561]	pathogenic	14	92006353	92006354	Human	1	name
405104945	CV2947305	single nucleotide variant	NM_004239.4(TRIP11):c.4416C>T (p.Tyr1472=)	Achondrogenesis, type IA [RCV003614273]	likely benign	14	92003560	92003560	Human	1	name
405105747	CV2961848	single nucleotide variant	NM_004239.4(TRIP11):c.5346C>T (p.Val1782=)	Achondrogenesis, type IA [RCV003614453]	likely benign	14	91975283	91975283	Human	1	name
405090016	CV2965971	single nucleotide variant	NM_004239.4(TRIP11):c.4968G>T (p.Ala1656=)	Achondrogenesis, type IA [RCV003613653]	likely benign	14	91995440	91995440	Human	1	name
405090041	CV2966125	duplication	NM_004239.4(TRIP11):c.2911dup (p.Thr971fs)	Achondrogenesis, type IA [RCV003613655]	pathogenic	14	92005064	92005065	Human	1	name
405089584	CV2969095	single nucleotide variant	NM_004239.4(TRIP11):c.3270A>G (p.Gln1090=)	Achondrogenesis, type IA [RCV003613620]	likely benign	14	92004706	92004706	Human	1	name
405089651	CV2969234	single nucleotide variant	NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)	Achondrogenesis, type IA [RCV003613625]	likely benign	14	91969775	91969775	Human	1	name
405094332	CV3002767	single nucleotide variant	NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)	Achondrogenesis, type IA [RCV003614024]	uncertain significance	14	92014420	92014420	Human	1	name
405108316	CV3035324	single nucleotide variant	NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)	Achondrogenesis, type IA [RCV003615034]	likely benign	14	92004316	92004316	Human	1	name
405109298	CV3060045	single nucleotide variant	NM_004239.4(TRIP11):c.5433C>T (p.Gly1811=)	Achondrogenesis, type IA [RCV003615241]\|not provided [RCV004703327]	likely benign	14	91975196	91975196	Human	1	name
405111841	CV3077629	single nucleotide variant	NM_004239.4(TRIP11):c.5026C>T (p.Leu1676=)	Achondrogenesis, type IA [RCV003615506]	likely benign	14	91995382	91995382	Human	1	name
405238747	CV3081327	single nucleotide variant	NM_004239.4(TRIP11):c.4842A>G (p.Thr1614=)	not provided [RCV003736420]	likely benign	14	91999290	91999290	Human		name
404985073	CV3121797	single nucleotide variant	NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)	Achondrogenesis, type IA [RCV003826596]	uncertain significance	14	92014538	92014538	Human	1	name
405065712	CV3130064	single nucleotide variant	NM_004239.4(TRIP11):c.3783T>A (p.Ser1261=)	Achondrogenesis, type IA [RCV003833143]	likely benign	14	92004193	92004193	Human	1	name
405133475	CV3163897	single nucleotide variant	NM_004239.4(TRIP11):c.4761T>C (p.His1587=)	Achondrogenesis, type IA [RCV003854885]	likely benign	14	91999371	91999371	Human	1	name
402466425	CV3177688	single nucleotide variant	NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)	Achondrogenesis, type IA [RCV003873126]	uncertain significance	14	92014448	92014448	Human	1	name
402509443	CV3182166	single nucleotide variant	NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=)	Achondrogenesis, type IA [RCV003878820]	likely benign	14	92004073	92004073	Human	1	name
11612098	CV321765	single nucleotide variant	NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=)	Achondrogenesis, type IA [RCV000555757]\|Connective tissue disorder [RCV002278398]\|not provided [RCV001812823]\|not specified [RCV000422749]	benign\|likely benign	14	91969832	91969832	Human	2	name
11611139	CV321768	single nucleotide variant	NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=)	Achondrogenesis, type IA [RCV000390612]	conflicting interpretations of pathogenicity\|uncertain significance	14	91974630	91974630	Human	1	name
11599136	CV321776	single nucleotide variant	NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=)	Achondrogenesis, type IA [RCV000532077]\|Connective tissue disorder [RCV002278402]\|not provided [RCV001812825]\|not specified [RCV000602527]	benign\|likely benign	14	91999320	91999320	Human	2	name
11609472	CV321781	single nucleotide variant	NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=)	Achondrogenesis, type IA [RCV000368465]	uncertain significance	14	91999356	91999356	Human	1	name
11606754	CV321787	single nucleotide variant	NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=)	Achondrogenesis, type IA [RCV000952726]\|Connective tissue disorder [RCV002278407]\|not provided [RCV003656105]\|not specified [RCV000420511]	benign\|likely benign	14	92004262	92004262	Human	2	name
11609405	CV321803	single nucleotide variant	NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys)	Achondrogenesis, type IA [RCV000367502]	uncertain significance	14	92014571	92014571	Human	1	name
11651599	CV321804	single nucleotide variant	NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr)	Achondrogenesis, type IA [RCV000299842]	uncertain significance	14	92015833	92015833	Human	1	name
11622185	CV331110	single nucleotide variant	NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=)	Achondrogenesis, type IA [RCV000952727]\|Connective tissue disorder [RCV002278408]\|not provided [RCV003656106]\|not specified [RCV000438108]	benign\|likely benign	14	92004670	92004670	Human	2	name
405797836	CV3347391	single nucleotide variant	NM_004239.4(TRIP11):c.894A>C (p.Gln298His)	Inborn genetic diseases [RCV004476316]	uncertain significance	14	92014507	92014507	Human	1	name
11619613	CV337859	single nucleotide variant	NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)	Achondrogenesis, type IA [RCV001078472]\|Connective tissue disorder [RCV002278405]\|not provided [RCV000756810]\|not specified [RCV000597547]	benign\|likely benign\|uncertain significance	14	92003563	92003563	Human	2	name
11612498	CV337895	single nucleotide variant	NM_004239.4(TRIP11):c.425C>T (p.Ala142Val)	Achondrogenesis, type IA [RCV000259889]	uncertain significance	14	92021719	92021719	Human	1	name
11616617	CV339846	single nucleotide variant	NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)	Achondrogenesis, type IA [RCV000296490]\|not provided [RCV000591240]	conflicting interpretations of pathogenicity\|uncertain significance	14	91969784	91969784	Human	1	name
11621107	CV339847	single nucleotide variant	NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)	Achondrogenesis, type IA [RCV000344408]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91969802	91969802	Human	1	name
11615765	CV339870	single nucleotide variant	NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=)	Achondrogenesis, type IA [RCV000288620]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92003533	92003533	Human	1	name
11625969	CV339875	single nucleotide variant	NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=)	Achondrogenesis, type IA [RCV000405477]	conflicting interpretations of pathogenicity\|uncertain significance	14	92004310	92004310	Human	1	name
407461644	CV3490791	single nucleotide variant	NM_004239.4(TRIP11):c.610G>C (p.Asp204His)	Inborn genetic diseases [RCV004687701]	likely benign	14	92017729	92017729	Human	1	name
407454212	CV3490795	single nucleotide variant	NM_004239.4(TRIP11):c.647A>G (p.Asn216Ser)	Inborn genetic diseases [RCV004684906]	uncertain significance	14	92017692	92017692	Human	1	name
407454214	CV3490797	single nucleotide variant	NM_004239.4(TRIP11):c.602A>G (p.Gln201Arg)	Inborn genetic diseases [RCV004684908]	uncertain significance	14	92017737	92017737	Human	1	name
596942043	CV3543951	single nucleotide variant	NM_004239.4(TRIP11):c.3528A>G (p.Leu1176=)	not specified [RCV004799941]	likely benign	14	92004448	92004448	Human		name
597625264	CV3614703	single nucleotide variant	NM_004239.4(TRIP11):c.793A>G (p.Ile265Val)	Inborn genetic diseases [RCV004964458]	uncertain significance	14	92015726	92015726	Human	1	name
597625265	CV3614704	single nucleotide variant	NM_004239.4(TRIP11):c.845C>T (p.Thr282Ile)	Inborn genetic diseases [RCV004964459]	uncertain significance	14	92014556	92014556	Human	1	name
597625269	CV3614706	single nucleotide variant	NM_004239.4(TRIP11):c.640C>A (p.Leu214Ile)	Inborn genetic diseases [RCV004964461]	uncertain significance	14	92017699	92017699	Human	1	name
597625277	CV3614711	single nucleotide variant	NM_004239.4(TRIP11):c.782A>G (p.Tyr261Cys)	Inborn genetic diseases [RCV004964466]	uncertain significance	14	92015737	92015737	Human	1	name
597625279	CV3614712	single nucleotide variant	NM_004239.4(TRIP11):c.438C>G (p.Phe146Leu)	Inborn genetic diseases [RCV004964467]	uncertain significance	14	92021706	92021706	Human	1	name
12837099	CV373243	single nucleotide variant	NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=)	Achondrogenesis, type IA [RCV002058940]\|not provided [RCV004703961]\|not specified [RCV000424576]	benign\|likely benign	14	92003476	92003476	Human	1	name
597846635	CV3746267	single nucleotide variant	NM_004239.4(TRIP11):c.3450T>C (p.Ser1150=)	Achondrogenesis, type IA [RCV005060085]	likely benign	14	92004526	92004526	Human	1	name
597836511	CV3757699	single nucleotide variant	NM_004239.4(TRIP11):c.4950G>A (p.Lys1650=)	Achondrogenesis, type IA [RCV005085713]	likely benign	14	91995458	91995458	Human	1	name
12843239	CV376275	single nucleotide variant	NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=)	Achondrogenesis, type IA [RCV000962347]\|not provided [RCV003114543]\|not specified [RCV000435877]	benign	14	92004118	92004118	Human	1	name
12839272	CV376277	single nucleotide variant	NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=)	Achondrogenesis, type IA [RCV002062791]\|TRIP11-related disorder [RCV003902569]\|not specified [RCV000428500]	likely benign	14	92004712	92004712	Human	2	name , trait , alternate_id
597902584	CV3779282	single nucleotide variant	NM_004239.4(TRIP11):c.5616T>C (p.Ser1872=)	Achondrogenesis, type IA [RCV005127359]	likely benign	14	91972820	91972820	Human	1	name
597928106	CV3788772	single nucleotide variant	NM_004239.4(TRIP11):c.4602A>G (p.Ser1534=)	Achondrogenesis, type IA [RCV005131250]	likely benign	14	92000064	92000064	Human	1	name
597946973	CV3790477	single nucleotide variant	NM_004239.4(TRIP11):c.4651T>C (p.Leu1551=)	Achondrogenesis, type IA [RCV005134885]	likely benign	14	92000015	92000015	Human	1	name
597973252	CV3790894	single nucleotide variant	NM_004239.4(TRIP11):c.3417A>G (p.Glu1139=)	Achondrogenesis, type IA [RCV005143109]	likely benign	14	92004559	92004559	Human	1	name
597974075	CV3801727	deletion	NM_004239.4(TRIP11):c.1886del (p.Gln629fs)	Achondrogenesis, type IA [RCV005143716]	pathogenic	14	92006090	92006090	Human	1	name
597972339	CV3812920	single nucleotide variant	NM_004239.4(TRIP11):c.3030G>A (p.Lys1010=)	Achondrogenesis, type IA [RCV005167373]	likely benign	14	92004946	92004946	Human	1	name
597860905	CV3813458	single nucleotide variant	NM_004239.4(TRIP11):c.3693A>G (p.Thr1231=)	Achondrogenesis, type IA [RCV005146720]	likely benign	14	92004283	92004283	Human	1	name
597913549	CV3817434	single nucleotide variant	NM_004239.4(TRIP11):c.5349A>C (p.Leu1783=)	Achondrogenesis, type IA [RCV005154636]	likely benign	14	91975280	91975280	Human	1	name
597843103	CV3827258	single nucleotide variant	NM_004239.4(TRIP11):c.3645A>G (p.Lys1215=)	Achondrogenesis, type IA [RCV005172529]	likely benign	14	92004331	92004331	Human	1	name
597869355	CV3835158	single nucleotide variant	NM_004239.4(TRIP11):c.5676A>G (p.Pro1892=)	Achondrogenesis, type IA [RCV005176334]	likely benign	14	91972760	91972760	Human	1	name
597939627	CV3836491	single nucleotide variant	NM_004239.4(TRIP11):c.3591A>T (p.Gly1197=)	Achondrogenesis, type IA [RCV005187512]	likely benign	14	92004385	92004385	Human	1	name
597954842	CV3844525	single nucleotide variant	NM_004239.4(TRIP11):c.3411A>G (p.Gln1137=)	Achondrogenesis, type IA [RCV005191199]	likely benign	14	92004565	92004565	Human	1	name
597903098	CV3845914	single nucleotide variant	NM_004239.4(TRIP11):c.4362A>G (p.Leu1454=)	Achondrogenesis, type IA [RCV005181536]	likely benign	14	92003614	92003614	Human	1	name
598127416	CV3882650	single nucleotide variant	NM_004239.4(TRIP11):c.791G>A (p.Arg264Gln)	not provided [RCV005234180]	uncertain significance	14	92015728	92015728	Human		name
598204688	CV3896708	duplication	NM_004239.4(TRIP11):c.2522dup (p.Asn841fs)	TRIP11-related skeletal dysplasia [RCV005356903]	likely pathogenic	14	92005453	92005454	Human	1	name , trait
13523917	CV493899	single nucleotide variant	NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=)	Achondrogenesis, type IA [RCV003614051]\|not provided [RCV000593601]	likely benign\|uncertain significance	14	91993884	91993884	Human	1	name
13529989	CV504914	single nucleotide variant	NM_004239.4(TRIP11):c.4164C>T (p.His1388=)	Achondrogenesis, type IA [RCV001088361]\|Connective tissue disorder [RCV002279435]\|not provided [RCV000756811]	benign\|likely benign	14	92003812	92003812	Human	2	name
13538499	CV505589	single nucleotide variant	NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=)	Achondrogenesis, type IA [RCV001089383]\|Connective tissue disorder [RCV002279434]\|not provided [RCV000756812]	benign\|likely benign	14	92004829	92004829	Human	2	name
13617428	CV528410	single nucleotide variant	NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=)	Achondrogenesis, type IA [RCV002060723]	benign	14	91988375	91988375	Human	1	name
14393963	CV609903	single nucleotide variant	NM_004239.4(TRIP11):c.332A>C (p.Lys111Thr)	not provided [RCV000756814]	uncertain significance	14	92021812	92021812	Human		name
14393090	CV610502	single nucleotide variant	NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter)	Odontochondrodysplasia 1 [RCV000853509]	pathogenic\|uncertain significance	14	92021558	92021558	Human	1	name
14393097	CV610509	deletion	NM_004239.4(TRIP11):c.1622del (p.Lys541fs)	Odontochondrodysplasia 1 [RCV000757990]	pathogenic	14	92006354	92006354	Human	1	name
14743699	CV656274	single nucleotide variant	NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=)	Achondrogenesis, type IA [RCV001087116]\|Connective tissue disorder [RCV002279560]\|not provided [RCV000842240]	benign\|likely benign	14	91995398	91995398	Human	2	name
14718558	CV656275	single nucleotide variant	NM_004239.4(TRIP11):c.3384C>T (p.Ala1128=)	not provided [RCV000830430]	likely benign	14	92004592	92004592	Human		name
14708429	CV667636	microsatellite	NM_004239.4(TRIP11):c.5056+287_5056+289del	not provided [RCV000826563]	benign	14	91995063	91995065	Human		name
15192139	CV725860	single nucleotide variant	NM_004239.4(TRIP11):c.3078A>G (p.Lys1026=)	Achondrogenesis, type IA [RCV001448755]	likely benign	14	92004898	92004898	Human	1	name
15116415	CV739391	single nucleotide variant	NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=)	Achondrogenesis, type IA [RCV001120382]\|TRIP11-related disorder [RCV003922846]\|not provided [RCV000895196]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91969724	91969724	Human	2	name , trait , alternate_id
15184148	CV739392	single nucleotide variant	NM_004239.4(TRIP11):c.4608G>A (p.Gln1536=)	Achondrogenesis, type IA [RCV002540773]	likely benign	14	92000058	92000058	Human	1	name
15121833	CV739393	single nucleotide variant	NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)	Achondrogenesis, type IA [RCV001117015]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92003848	92003848	Human	1	name
15146812	CV739394	single nucleotide variant	NM_004239.4(TRIP11):c.3547T>C (p.Leu1183=)	Achondrogenesis, type IA [RCV002540202]\|not provided [RCV004704292]	likely benign	14	92004429	92004429	Human	1	name
15200949	CV754208	single nucleotide variant	NM_004239.4(TRIP11):c.4722A>G (p.Glu1574=)	not provided [RCV000912995]	likely benign	14	91999410	91999410	Human		name
15202918	CV754209	single nucleotide variant	NM_004239.4(TRIP11):c.3759T>G (p.Val1253=)	not provided [RCV000913614]	likely benign	14	92004217	92004217	Human		name
21074530	CV797092	single nucleotide variant	NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=)	Achondrogenesis, type IA [RCV002067608]\|not provided [RCV000995242]	likely benign\|uncertain significance	14	91976116	91976116	Human	1	name
28874503	CV872941	single nucleotide variant	NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)	Achondrogenesis, type IA [RCV001115488]	conflicting interpretations of pathogenicity\|uncertain significance	14	91972829	91972829	Human	1	name
28878434	CV872942	single nucleotide variant	NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=)	Achondrogenesis, type IA [RCV001116904]\|not provided [RCV004809019]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91974732	91974732	Human	1	name
28889244	CV872944	single nucleotide variant	NM_004239.4(TRIP11):c.5202A>T (p.Ser1734=)	Achondrogenesis, type IA [RCV001120186]	uncertain significance	14	91988342	91988342	Human	1	name
28874714	CV872950	single nucleotide variant	NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)	Achondrogenesis, type IA [RCV001115581]	conflicting interpretations of pathogenicity\|uncertain significance	14	92003770	92003770	Human	1	name
28890587	CV872961	single nucleotide variant	NM_004239.4(TRIP11):c.998G>A (p.Arg333Lys)	Achondrogenesis, type IA [RCV001120671]	uncertain significance	14	92014403	92014403	Human	1	name
28875122	CV872962	single nucleotide variant	NM_004239.4(TRIP11):c.506C>T (p.Ser169Leu)	Achondrogenesis, type IA [RCV001115754]	uncertain significance	14	92021638	92021638	Human	1	name
41405486	CV981888	single nucleotide variant	NM_004239.4(TRIP11):c.460C>T (p.Pro154Ser)	not provided [RCV001813021]	uncertain significance	14	92021684	92021684	Human		name
126725449	CV996050	single nucleotide variant	NM_004239.4(TRIP11):c.484A>T (p.Met162Leu)	Achondrogenesis, type IA [RCV001302570]\|Inborn genetic diseases [RCV003166704]	uncertain significance	14	92021660	92021660	Human	2	name
126741969	CV1017859	single nucleotide variant	NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter)	Achondrogenesis, type IA [RCV001329831]	pathogenic	14	92005365	92005365	Human	1	name
126914975	CV1048737	single nucleotide variant	NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe)	Achondrogenesis, type IA [RCV001359719]	uncertain significance	14	92005972	92005972	Human	1	name
127289041	CV1124065	single nucleotide variant	NM_004239.4(TRIP11):c.1568A>G (p.Asn523Ser)	Achondrogenesis, type IA [RCV001450747]	likely benign	14	92006408	92006408	Human	1	name
150417234	CV1181205	single nucleotide variant	NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)	Achondrogenesis, type IA [RCV002072031]\|TRIP11-related disorder [RCV003948582]\|not provided [RCV001550030]	likely benign\|conflicting interpretations of pathogenicity	14	92006387	92006387	Human	2	name , trait , alternate_id
151352481	CV1321491	single nucleotide variant	NM_004239.4(TRIP11):c.1240G>T (p.Ala414Ser)	Inborn genetic diseases [RCV005298878]\|not provided [RCV001811884]	uncertain significance	14	92011060	92011060	Human	1	name
151767619	CV1341588	single nucleotide variant	NM_004239.4(TRIP11):c.2720A>G (p.His907Arg)	Achondrogenesis, type IA [RCV001874128]	likely benign\|uncertain significance	14	92005256	92005256	Human	1	name
151834191	CV1345104	single nucleotide variant	NM_004239.4(TRIP11):c.1457G>C (p.Ser486Thr)	Achondrogenesis, type IA [RCV001880603]	uncertain significance	14	92007710	92007710	Human	1	name
151760603	CV1358013	single nucleotide variant	NM_004239.4(TRIP11):c.1409A>G (p.His470Arg)	Achondrogenesis, type IA [RCV001928464]	uncertain significance	14	92007758	92007758	Human	1	name
151810001	CV1374981	single nucleotide variant	NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter)	Achondrogenesis, type IA [RCV001933103]	pathogenic	14	92005194	92005194	Human	1	name
151813079	CV1382121	single nucleotide variant	NM_004239.4(TRIP11):c.2433C>A (p.Asn811Lys)	Achondrogenesis, type IA [RCV001992018]	uncertain significance	14	92005543	92005543	Human	1	name
151816676	CV1388420	single nucleotide variant	NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp)	Achondrogenesis, type IA [RCV001992360]\|Inborn genetic diseases [RCV005288649]	uncertain significance	14	92005878	92005878	Human	2	name
151726052	CV1395285	single nucleotide variant	NM_004239.4(TRIP11):c.1153G>A (p.Glu385Lys)	Achondrogenesis, type IA [RCV001966601]	uncertain significance	14	92014248	92014248	Human	1	name
151720394	CV1396628	single nucleotide variant	NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val)	Achondrogenesis, type IA [RCV001891006]\|Inborn genetic diseases [RCV004970415]	uncertain significance	14	92005367	92005367	Human	2	name
151740552	CV1402184	single nucleotide variant	NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg)	Achondrogenesis, type IA [RCV001911887]	uncertain significance	14	92005067	92005067	Human	1	name
151888661	CV1402222	single nucleotide variant	NM_004239.4(TRIP11):c.2041A>G (p.Lys681Glu)	Achondrogenesis, type IA [RCV001942631]	uncertain significance	14	92005935	92005935	Human	1	name
151779500	CV1408285	single nucleotide variant	NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln)	Achondrogenesis, type IA [RCV001915745]	uncertain significance	14	92005418	92005418	Human	1	name
151788271	CV1412989	single nucleotide variant	NM_004239.4(TRIP11):c.2189A>G (p.Lys730Arg)	Achondrogenesis, type IA [RCV001989816]\|TRIP11-related disorder [RCV004734366]	uncertain significance	14	92005787	92005787	Human	2	name , trait , alternate_id
151788545	CV1428395	single nucleotide variant	NM_004239.4(TRIP11):c.1039A>G (p.Met347Val)	Achondrogenesis, type IA [RCV001931178]	uncertain significance	14	92014362	92014362	Human	1	name
151748547	CV1428944	single nucleotide variant	NM_004239.4(TRIP11):c.2200G>A (p.Glu734Lys)	Achondrogenesis, type IA [RCV001986026]	uncertain significance	14	92005776	92005776	Human	1	name
151750128	CV1430432	single nucleotide variant	NM_004239.4(TRIP11):c.2276T>A (p.Leu759Gln)	Achondrogenesis, type IA [RCV002006780]	uncertain significance	14	92005700	92005700	Human	1	name
151795397	CV1435714	single nucleotide variant	NM_004239.4(TRIP11):c.2038G>A (p.Glu680Lys)	Achondrogenesis, type IA [RCV001931812]	uncertain significance	14	92005938	92005938	Human	1	name
151739442	CV1437606	single nucleotide variant	NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp)	Achondrogenesis, type IA [RCV001870875]	uncertain significance	14	92005570	92005570	Human	1	name
151776156	CV1440285	single nucleotide variant	NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn)	Achondrogenesis, type IA [RCV001874922]	uncertain significance	14	92005933	92005933	Human	1	name
151774844	CV1440774	single nucleotide variant	NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val)	Achondrogenesis, type IA [RCV001896697]	uncertain significance	14	92005961	92005961	Human	1	name
151826692	CV1447256	single nucleotide variant	NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr)	Achondrogenesis, type IA [RCV001870131]	uncertain significance	14	92005092	92005092	Human	1	name
151825816	CV1453069	single nucleotide variant	NM_004239.4(TRIP11):c.1255A>C (p.Lys419Gln)	Achondrogenesis, type IA [RCV002050241]\|Inborn genetic diseases [RCV002543483]	uncertain significance	14	92011045	92011045	Human	2	name
151863313	CV1454390	single nucleotide variant	NM_004239.4(TRIP11):c.1820T>C (p.Leu607Ser)	Achondrogenesis, type IA [RCV001938847]	uncertain significance	14	92006156	92006156	Human	1	name
151863660	CV1454468	single nucleotide variant	NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg)	Achondrogenesis, type IA [RCV001938894]\|not provided [RCV003883722]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92005901	92005901	Human	1	name
151848257	CV1484153	single nucleotide variant	NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser)	Achondrogenesis, type IA [RCV001903742]\|Inborn genetic diseases [RCV002555398]	likely benign\|uncertain significance	14	92005673	92005673	Human	2	name
151759988	CV1499929	single nucleotide variant	NM_004239.4(TRIP11):c.1066G>A (p.Glu356Lys)	Achondrogenesis, type IA [RCV001895192]	uncertain significance	14	92014335	92014335	Human	1	name
151889135	CV1516145	single nucleotide variant	NM_004239.4(TRIP11):c.2129T>C (p.Ile710Thr)	Achondrogenesis, type IA [RCV002038540]	uncertain significance	14	92005847	92005847	Human	1	name
152072546	CV1609501	single nucleotide variant	NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile)	Achondrogenesis, type IA [RCV002129793]\|Inborn genetic diseases [RCV005288725]	benign\|uncertain significance	14	92005621	92005621	Human	2	name
153347835	CV1694883	single nucleotide variant	NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter)	Connective tissue disorder [RCV002278814]	likely pathogenic	14	92014320	92014320	Human	1	name
153347836	CV1694884	single nucleotide variant	NM_004239.4(TRIP11):c.1735C>T (p.Gln579Ter)	Connective tissue disorder [RCV002278815]	pathogenic	14	92006241	92006241	Human	1	name
153347837	CV1694885	single nucleotide variant	NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg)	Connective tissue disorder [RCV002278816]	uncertain significance	14	92005821	92005821	Human	1	name
156390777	CV1872711	single nucleotide variant	NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu)	Achondrogenesis, type IA [RCV003051292]	uncertain significance	14	92011005	92011005	Human	1	name
156355040	CV1880187	single nucleotide variant	NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val)	Achondrogenesis, type IA [RCV003065165]	uncertain significance	14	92005434	92005434	Human	1	name
156308722	CV1895123	single nucleotide variant	NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr)	Achondrogenesis, type IA [RCV003088313]	uncertain significance	14	92005338	92005338	Human	1	name
156354887	CV1921043	single nucleotide variant	NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe)	Achondrogenesis, type IA [RCV002632253]	uncertain significance	14	92006305	92006305	Human	1	name
156393324	CV1933896	single nucleotide variant	NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln)	Achondrogenesis, type IA [RCV002654602]\|Inborn genetic diseases [RCV004963523]	uncertain significance	14	92005764	92005764	Human	2	name
156159141	CV1954715	single nucleotide variant	NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp)	Achondrogenesis, type IA [RCV002573160]	uncertain significance	14	92005719	92005719	Human	1	name
156416883	CV1970076	single nucleotide variant	NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys)	Achondrogenesis, type IA [RCV002589925]\|Inborn genetic diseases [RCV004965950]	uncertain significance	14	92011790	92011790	Human	2	name
156342905	CV1974216	single nucleotide variant	NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile)	Achondrogenesis, type IA [RCV002601375]	uncertain significance	14	92005953	92005953	Human	1	name
156391003	CV1991243	single nucleotide variant	NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr)	Achondrogenesis, type IA [RCV002634986]	uncertain significance	14	92006396	92006396	Human	1	name
156274302	CV2014794	single nucleotide variant	NM_004239.4(TRIP11):c.2257A>C (p.Asn753His)	Achondrogenesis, type IA [RCV002715086]	uncertain significance	14	92005719	92005719	Human	1	name
156351982	CV2015275	single nucleotide variant	NM_004239.4(TRIP11):c.1828A>C (p.Lys610Gln)	Achondrogenesis, type IA [RCV002720249]	uncertain significance	14	92006148	92006148	Human	1	name
156194148	CV2038130	single nucleotide variant	NM_004239.4(TRIP11):c.1814A>G (p.Glu605Gly)	Achondrogenesis, type IA [RCV002766005]	uncertain significance	14	92006162	92006162	Human	1	name
156243392	CV2043950	single nucleotide variant	NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu)	Achondrogenesis, type IA [RCV002805757]	uncertain significance	14	92005521	92005521	Human	1	name
8596823	CV20550	single nucleotide variant	NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)	Achondrogenesis, type IA [RCV000005846]\|Connective tissue disorder [RCV002276533]\|not provided [RCV000725982]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92005874	92005874	Human	2	name
156116268	CV2093198	single nucleotide variant	NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn)	Achondrogenesis, type IA [RCV002913981]	uncertain significance	14	92006356	92006356	Human	1	name
156105363	CV2107964	single nucleotide variant	NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala)	Achondrogenesis, type IA [RCV002927202]	uncertain significance	14	92006321	92006321	Human	1	name
156374395	CV2123952	single nucleotide variant	NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)	Achondrogenesis, type IA [RCV002942587]\|not provided [RCV003111606]	uncertain significance	14	92005851	92005851	Human	1	name
156030933	CV2126493	single nucleotide variant	NM_004239.4(TRIP11):c.1268G>A (p.Arg423His)	Achondrogenesis, type IA [RCV002949223]	uncertain significance	14	92011032	92011032	Human	1	name
156216036	CV2167364	single nucleotide variant	NM_004239.4(TRIP11):c.2665G>C (p.Asp889His)	Achondrogenesis, type IA [RCV003042524]	uncertain significance	14	92005311	92005311	Human	1	name
156010689	CV2172177	single nucleotide variant	NM_004239.4(TRIP11):c.1652T>G (p.Met551Arg)	Achondrogenesis, type IA [RCV003035224]	uncertain significance	14	92006324	92006324	Human	1	name
156012130	CV2172329	single nucleotide variant	NM_004239.4(TRIP11):c.2758G>A (p.Glu920Lys)	Achondrogenesis, type IA [RCV003035299]	uncertain significance	14	92005218	92005218	Human	1	name
156287116	CV2192087	single nucleotide variant	NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala)	Achondrogenesis, type IA [RCV003044988]	uncertain significance	14	92005005	92005005	Human	1	name
156220250	CV2254131	single nucleotide variant	NM_004239.4(TRIP11):c.2382C>A (p.Asp794Glu)	Inborn genetic diseases [RCV002804683]	likely benign	14	92005594	92005594	Human	1	name
155968413	CV2261996	single nucleotide variant	NM_004239.4(TRIP11):c.1288G>C (p.Glu430Gln)	Inborn genetic diseases [RCV002817479]	uncertain significance	14	92011012	92011012	Human	1	name
156114594	CV2268617	single nucleotide variant	NM_004239.4(TRIP11):c.1838T>C (p.Ile613Thr)	Inborn genetic diseases [RCV002799956]	uncertain significance	14	92006138	92006138	Human	1	name
156191643	CV2325627	single nucleotide variant	NM_004239.4(TRIP11):c.1273G>A (p.Glu425Lys)	Inborn genetic diseases [RCV002931021]	uncertain significance	14	92011027	92011027	Human	1	name
155930056	CV2389300	single nucleotide variant	NM_004239.4(TRIP11):c.2476A>G (p.Lys826Glu)	Inborn genetic diseases [RCV002774168]	likely benign	14	92005500	92005500	Human	1	name
156435048	CV2403327	single nucleotide variant	NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly)	Autism spectrum disorder [RCV003127263]	likely benign	14	92005581	92005581	Human	2	name
243052348	CV2404363	single nucleotide variant	NM_004239.4(TRIP11):c.1835A>G (p.His612Arg)	not provided [RCV003129389]	uncertain significance	14	92006141	92006141	Human		name
329357135	CV2457553	single nucleotide variant	NM_004239.4(TRIP11):c.1895A>G (p.Asn632Ser)	Inborn genetic diseases [RCV003203584]	uncertain significance	14	92006081	92006081	Human	1	name
401761568	CV2702394	single nucleotide variant	NM_004239.4(TRIP11):c.1172A>C (p.Gln391Pro)	Inborn genetic diseases [RCV003257601]	uncertain significance	14	92014229	92014229	Human	1	name
401762142	CV2722657	single nucleotide variant	NM_004239.4(TRIP11):c.1995T>G (p.Asn665Lys)	Inborn genetic diseases [RCV003300099]	uncertain significance	14	92005981	92005981	Human	1	name
11638517	CV272284	single nucleotide variant	NM_004239.4(TRIP11):c.2584A>C (p.Asn862His)	not provided [RCV000302868]	uncertain significance	14	92005392	92005392	Human		name
401754252	CV2726825	single nucleotide variant	NM_004239.4(TRIP11):c.1924A>G (p.Thr642Ala)	Achondrogenesis, type IA [RCV005061205]\|Inborn genetic diseases [RCV003277967]	uncertain significance	14	92006052	92006052	Human	2	name
401891257	CV2774926	single nucleotide variant	NM_004239.4(TRIP11):c.1867A>T (p.Ile623Leu)	Inborn genetic diseases [RCV003354815]	uncertain significance	14	92006109	92006109	Human	1	name
401896961	CV2785447	single nucleotide variant	NM_004239.4(TRIP11):c.1520C>T (p.Ala507Val)	Inborn genetic diseases [RCV003374579]	uncertain significance	14	92007647	92007647	Human	1	name
402476314	CV2856029	deletion	NM_004239.4(TRIP11):c.3173del (p.Thr1058fs)	Achondrogenesis, type IA [RCV003505788]	pathogenic	14	92004803	92004803	Human	1	name
402480338	CV2893581	single nucleotide variant	NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr)	Achondrogenesis, type IA [RCV003506428]	benign	14	92007783	92007783	Human	1	name
405105440	CV2953515	deletion	NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)	Achondrogenesis, type IA [RCV003614387]	pathogenic	14	92004469	92004469	Human	1	name
405095072	CV2999139	single nucleotide variant	NM_004239.4(TRIP11):c.2147T>C (p.Met716Thr)	Achondrogenesis, type IA [RCV003613976]	uncertain significance	14	92005829	92005829	Human	1	name
405107854	CV3026502	single nucleotide variant	NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)	Achondrogenesis, type IA [RCV003614925]	uncertain significance	14	92005983	92005983	Human	1	name
405110432	CV3059392	single nucleotide variant	NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)	Achondrogenesis, type IA [RCV003615365]	uncertain significance	14	92006396	92006396	Human	1	name
405109896	CV3069492	single nucleotide variant	NM_004239.4(TRIP11):c.2821G>A (p.Asp941Asn)	Achondrogenesis, type IA [RCV003615352]\|Inborn genetic diseases [RCV004968433]	uncertain significance	14	92005155	92005155	Human	2	name
11646656	CV321797	single nucleotide variant	NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val)	Achondrogenesis, type IA [RCV000271926]	uncertain significance	14	92005266	92005266	Human	1	name
11610131	CV321799	single nucleotide variant	NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly)	Achondrogenesis, type IA [RCV000952729]\|Connective tissue disorder [RCV002278411]\|not provided [RCV003656108]\|not specified [RCV000437056]	benign\|likely benign	14	92005325	92005325	Human	2	name
11601045	CV321800	single nucleotide variant	NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro)	Achondrogenesis, type IA [RCV000793388]	uncertain significance	14	92005739	92005739	Human	1	name
11622796	CV331115	single nucleotide variant	NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr)	Achondrogenesis, type IA [RCV000364305]\|not provided [RCV001770255]	uncertain significance	14	92005220	92005220	Human	1	name
11624038	CV331117	single nucleotide variant	NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)	Achondrogenesis, type IA [RCV000380572]\|Achondrogenesis, type IA [RCV005396952]	conflicting interpretations of pathogenicity\|uncertain significance	14	92005619	92005619	Human	1	name
11621788	CV331126	single nucleotide variant	NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly)	Achondrogenesis, type IA [RCV000352572]\|Achondrogenesis, type IA [RCV002494988]\|not provided [RCV000441201]	uncertain significance	14	92011011	92011011	Human	1	name
405797790	CV3347376	single nucleotide variant	NM_004239.4(TRIP11):c.1214G>A (p.Ser405Asn)	Inborn genetic diseases [RCV004476301]	uncertain significance	14	92011768	92011768	Human	1	name
405797793	CV3347377	single nucleotide variant	NM_004239.4(TRIP11):c.1264A>G (p.Met422Val)	Inborn genetic diseases [RCV004476302]	uncertain significance	14	92011036	92011036	Human	1	name
405797796	CV3347378	single nucleotide variant	NM_004239.4(TRIP11):c.1708G>T (p.Ala570Ser)	Inborn genetic diseases [RCV004476303]	uncertain significance	14	92006268	92006268	Human	1	name
405797802	CV3347380	single nucleotide variant	NM_004239.4(TRIP11):c.2150A>G (p.Glu717Gly)	Inborn genetic diseases [RCV004476305]	uncertain significance	14	92005826	92005826	Human	1	name
405797808	CV3347382	single nucleotide variant	NM_004239.4(TRIP11):c.2366A>G (p.His789Arg)	Achondrogenesis, type IA [RCV005104758]\|Inborn genetic diseases [RCV004476307]\|not provided [RCV005402137]	uncertain significance	14	92005610	92005610	Human	2	name
405797811	CV3347383	single nucleotide variant	NM_004239.4(TRIP11):c.2707A>G (p.Thr903Ala)	Inborn genetic diseases [RCV004476308]	uncertain significance	14	92005269	92005269	Human	1	name
11613232	CV337869	single nucleotide variant	NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn)	Achondrogenesis, type IA [RCV000266300]\|Inborn genetic diseases [RCV004021627]	uncertain significance	14	92005482	92005482	Human	2	name
11626063	CV337874	single nucleotide variant	NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)	Achondrogenesis, type IA [RCV000406125]\|Connective tissue disorder [RCV002278417]\|not provided [RCV000593586]	conflicting interpretations of pathogenicity\|uncertain significance	14	92011020	92011020	Human	2	name
11614502	CV339889	single nucleotide variant	NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn)	Achondrogenesis, type IA [RCV000277559]	uncertain significance	14	92005112	92005112	Human	1	name
11619292	CV339891	single nucleotide variant	NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu)	Achondrogenesis, type IA [RCV000952730]\|Connective tissue disorder [RCV002278412]\|not provided [RCV003656109]\|not specified [RCV000426820]	benign\|likely benign	14	92005593	92005593	Human	2	name
11623628	CV339892	single nucleotide variant	NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys)	Achondrogenesis, type IA [RCV001081732]\|Achondrogenesis, type IA [RCV002487393]\|Connective tissue disorder [RCV002278414]\|not provided [RCV000513946]\|not specified [RCV000417599]	benign\|likely benign	14	92005842	92005842	Human	2	name
11616187	CV339893	single nucleotide variant	NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys)	Achondrogenesis, type IA [RCV000292242]\|Connective tissue disorder [RCV002278415]\|not provided [RCV001812829]\|not specified [RCV000607343]	benign\|likely benign	14	92006072	92006072	Human	2	name
407454205	CV3490785	single nucleotide variant	NM_004239.4(TRIP11):c.2809A>G (p.Lys937Glu)	Inborn genetic diseases [RCV004684899]	uncertain significance	14	92005167	92005167	Human	1	name
407461638	CV3490787	single nucleotide variant	NM_004239.4(TRIP11):c.1267C>T (p.Arg423Cys)	Inborn genetic diseases [RCV004687699]	uncertain significance	14	92011033	92011033	Human	1	name
407461640	CV3490789	single nucleotide variant	NM_004239.4(TRIP11):c.2939A>T (p.His980Leu)	Inborn genetic diseases [RCV004687700]	uncertain significance	14	92005037	92005037	Human	1	name
407454213	CV3490796	single nucleotide variant	NM_004239.4(TRIP11):c.2471G>A (p.Ser824Asn)	Inborn genetic diseases [RCV004684907]	uncertain significance	14	92005505	92005505	Human	1	name
408381552	CV3518080	single nucleotide variant	NM_004239.4(TRIP11):c.1438G>T (p.Glu480Ter)	Achondrogenesis, type IA [RCV004732506]	pathogenic	14	92007729	92007729	Human	1	name
597625242	CV3614690	single nucleotide variant	NM_004239.4(TRIP11):c.1072A>T (p.Ser358Cys)	Inborn genetic diseases [RCV004964445]	uncertain significance	14	92014329	92014329	Human	1	name
597625244	CV3614691	single nucleotide variant	NM_004239.4(TRIP11):c.1675G>A (p.Val559Ile)	Inborn genetic diseases [RCV004964446]	uncertain significance	14	92006301	92006301	Human	1	name
597625249	CV3614694	single nucleotide variant	NM_004239.4(TRIP11):c.1483G>T (p.Ala495Ser)	Inborn genetic diseases [RCV004964449]	uncertain significance	14	92007684	92007684	Human	1	name
597625252	CV3614696	single nucleotide variant	NM_004239.4(TRIP11):c.1994A>G (p.Asn665Ser)	Inborn genetic diseases [RCV004964451]	uncertain significance	14	92005982	92005982	Human	1	name
597625257	CV3614699	single nucleotide variant	NM_004239.4(TRIP11):c.2216A>G (p.Tyr739Cys)	Inborn genetic diseases [RCV004964454]	uncertain significance	14	92005760	92005760	Human	1	name
597625260	CV3614701	single nucleotide variant	NM_004239.4(TRIP11):c.2215T>C (p.Tyr739His)	Inborn genetic diseases [RCV004964456]	uncertain significance	14	92005761	92005761	Human	1	name
597625262	CV3614702	single nucleotide variant	NM_004239.4(TRIP11):c.1948G>A (p.Glu650Lys)	Inborn genetic diseases [RCV004964457]	uncertain significance	14	92006028	92006028	Human	1	name
12844983	CV374408	single nucleotide variant	NM_004239.4(TRIP11):c.2305C>G (p.Gln769Glu)	not provided [RCV000438992]	uncertain significance	14	92005671	92005671	Human		name
597970421	CV3801950	single nucleotide variant	NM_004239.4(TRIP11):c.1532T>A (p.Met511Lys)	Achondrogenesis, type IA [RCV005141742]	uncertain significance	14	92006444	92006444	Human	1	name
597970856	CV3802308	single nucleotide variant	NM_004239.4(TRIP11):c.2293A>C (p.Ile765Leu)	Achondrogenesis, type IA [RCV005141905]	uncertain significance	14	92005683	92005683	Human	1	name
597903958	CV3846067	single nucleotide variant	NM_004239.4(TRIP11):c.2990C>G (p.Thr997Arg)	Achondrogenesis, type IA [RCV005181689]	uncertain significance	14	92004986	92004986	Human	1	name
598127885	CV3882944	single nucleotide variant	NM_004239.4(TRIP11):c.2344A>G (p.Ile782Val)	not provided [RCV005234477]	uncertain significance	14	92005632	92005632	Human		name
598129127	CV3888420	single nucleotide variant	NM_004239.4(TRIP11):c.2810A>C (p.Lys937Thr)	not provided [RCV005244594]	uncertain significance	14	92005166	92005166	Human		name
598174638	CV3890910	single nucleotide variant	NM_004239.4(TRIP11):c.1972C>G (p.Leu658Val)	not provided [RCV005251763]	uncertain significance	14	92006004	92006004	Human		name
598236139	CV3931882	single nucleotide variant	NM_004239.4(TRIP11):c.2442A>C (p.Glu814Asp)	Inborn genetic diseases [RCV005295969]	uncertain significance	14	92005534	92005534	Human	1	name
598236147	CV3931886	single nucleotide variant	NM_004239.4(TRIP11):c.1386C>G (p.Asp462Glu)	Inborn genetic diseases [RCV005295971]	uncertain significance	14	92007781	92007781	Human	1	name
598214481	CV3931888	single nucleotide variant	NM_004239.4(TRIP11):c.2395A>C (p.Ser799Arg)	Inborn genetic diseases [RCV005292539]	uncertain significance	14	92005581	92005581	Human	1	name
13437173	CV433989	single nucleotide variant	NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala)	Achondrogenesis, type IA [RCV000755411]\|Connective tissue disorder [RCV002279294]\|not provided [RCV001811010]\|not specified [RCV000508420]	benign	14	92007650	92007650	Human	2	name
13521941	CV492492	single nucleotide variant	NM_004239.4(TRIP11):c.1159G>T (p.Val387Leu)	not provided [RCV000591103]	uncertain significance	14	92014242	92014242	Human		name
13525336	CV505156	single nucleotide variant	NM_004239.4(TRIP11):c.1184C>T (p.Ser395Phe)	not provided [RCV005243307]\|not specified [RCV000603021]	likely benign	14	92014217	92014217	Human		name
13528400	CV513450	single nucleotide variant	NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter)	Odontochondrodysplasia 1 [RCV000625982]	pathogenic	14	92005938	92005938	Human	1	name
13617426	CV528808	single nucleotide variant	NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly)	Achondrogenesis, type IA [RCV000634172]	uncertain significance	14	92006429	92006429	Human	1	name
13617424	CV528854	single nucleotide variant	NM_004239.4(TRIP11):c.1159G>A (p.Val387Met)	Achondrogenesis, type IA [RCV000634171]\|Inborn genetic diseases [RCV002533189]\|not provided [RCV003318610]	uncertain significance	14	92014242	92014242	Human	2	name
13705834	CV536877	single nucleotide variant	NM_004239.4(TRIP11):c.2735T>G (p.Ile912Ser)	not provided [RCV000658386]	uncertain significance	14	92005241	92005241	Human		name
13818706	CV568334	single nucleotide variant	NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)	Achondrogenesis, type IA [RCV000693887]	pathogenic	14	92011020	92011020	Human	1	name
13817214	CV568336	single nucleotide variant	NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)	Achondrogenesis, type IA [RCV000692866]\|Inborn genetic diseases [RCV002532226]	uncertain significance	14	92011029	92011029	Human	2	name
13818336	CV569067	single nucleotide variant	NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)	Achondrogenesis, type IA [RCV000707638]	pathogenic	14	92005419	92005419	Human	1	name
13811764	CV569069	single nucleotide variant	NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)	Achondrogenesis, type IA [RCV000703252]	uncertain significance	14	92005838	92005838	Human	1	name
13809650	CV572976	single nucleotide variant	NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr)	Achondrogenesis, type IA [RCV000687865]\|Inborn genetic diseases [RCV004678793]	uncertain significance	14	92011035	92011035	Human	2	name
13837512	CV588802	single nucleotide variant	NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala)	Achondrogenesis, type IA [RCV001078613]\|not provided [RCV000733957]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92006024	92006024	Human	1	name
14393962	CV609902	single nucleotide variant	NM_004239.4(TRIP11):c.1375G>A (p.Ala459Thr)	Inborn genetic diseases [RCV002533799]\|not provided [RCV000756813]	uncertain significance	14	92007792	92007792	Human	1	name
14393093	CV610505	single nucleotide variant	NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr)	Odontochondrodysplasia 1 [RCV000853508]	pathogenic\|likely pathogenic	14	92011072	92011072	Human	1	name
14707282	CV642784	single nucleotide variant	NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly)	Achondrogenesis, type IA [RCV000806460]	uncertain significance	14	92005373	92005373	Human	1	name
14711402	CV642785	single nucleotide variant	NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)	Achondrogenesis, type IA [RCV000817635]	uncertain significance	14	92005599	92005599	Human	1	name
26906065	CV841907	deletion	NM_004239.4(TRIP11):c.3477del (p.Gln1160fs)	Achondrogenesis, type IA [RCV001051530]	pathogenic	14	92004499	92004499	Human	1	name
28874923	CV872955	single nucleotide variant	NM_004239.4(TRIP11):c.2741A>C (p.His914Pro)	Achondrogenesis, type IA [RCV001115670]\|Inborn genetic diseases [RCV005298704]	uncertain significance	14	92005235	92005235	Human	2	name
28879039	CV872957	single nucleotide variant	NM_004239.4(TRIP11):c.1897C>A (p.Gln633Lys)	Achondrogenesis, type IA [RCV001117093]\|Inborn genetic diseases [RCV003259101]	uncertain significance	14	92006079	92006079	Human	2	name
28884402	CV872958	single nucleotide variant	NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser)	Achondrogenesis, type IA [RCV001118735]	uncertain significance	14	92006261	92006261	Human	1	name
28884405	CV872959	single nucleotide variant	NM_004239.4(TRIP11):c.1663A>G (p.Lys555Glu)	Achondrogenesis, type IA [RCV001118736]	uncertain significance	14	92006313	92006313	Human	1	name
28884410	CV872960	single nucleotide variant	NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr)	Achondrogenesis, type IA [RCV001118737]\|Inborn genetic diseases [RCV003283987]\|TRIP11-related disorder [RCV003906222]\|not provided [RCV004706019]	benign\|likely benign\|uncertain significance	14	92007735	92007735	Human	3	name , trait , alternate_id
38492231	CV927196	single nucleotide variant	NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu)	Achondrogenesis, type IA [RCV001223435]	uncertain significance	14	92010988	92010988	Human	1	name
38498969	CV948725	single nucleotide variant	NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val)	Achondrogenesis, type IA [RCV001228094]	uncertain significance	14	92007674	92007674	Human	1	name
38495878	CV957339	single nucleotide variant	NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly)	Achondrogenesis, type IA [RCV001242209]\|Inborn genetic diseases [RCV003294136]	uncertain significance	14	92006039	92006039	Human	2	name
126751528	CV996049	single nucleotide variant	NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn)	Achondrogenesis, type IA [RCV001307053]	uncertain significance	14	92005662	92005662	Human	1	name
126771370	CV1011279	single nucleotide variant	NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe)	Achondrogenesis, type IA [RCV001323122]	uncertain significance	14	91975270	91975270	Human	1	name
126755013	CV1011280	single nucleotide variant	NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys)	Achondrogenesis, type IA [RCV001316838]	uncertain significance	14	92003586	92003586	Human	1	name
126737969	CV1011281	single nucleotide variant	NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr)	Achondrogenesis, type IA [RCV001314050]	uncertain significance	14	92004575	92004575	Human	1	name
126741973	CV1017858	single nucleotide variant	NM_004239.4(TRIP11):c.3891G>C (p.Gln1297His)	Achondrogenesis, type IA [RCV001329832]	uncertain significance	14	92004085	92004085	Human	1	name
126729683	CV1021263	single nucleotide variant	NM_004239.4(TRIP11):c.4519G>A (p.Ala1507Thr)	Achondrogenesis, type IA [RCV001333212]	uncertain significance	14	92003457	92003457	Human	1	name
126726372	CV1031786	single nucleotide variant	NM_004239.4(TRIP11):c.3932T>C (p.Ile1311Thr)	Achondrogenesis, type IA [RCV001348435]\|Inborn genetic diseases [RCV003169709]\|TRIP11-related disorder [RCV004734137]	uncertain significance	14	92004044	92004044	Human	3	name , trait , alternate_id
126771995	CV1031787	single nucleotide variant	NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe)	Achondrogenesis, type IA [RCV001345363]	uncertain significance	14	92004545	92004545	Human	1	name
126759430	CV1031788	single nucleotide variant	NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly)	Achondrogenesis, type IA [RCV001340127]\|Inborn genetic diseases [RCV004035924]	uncertain significance	14	92004815	92004815	Human	2	name
126918604	CV1048736	single nucleotide variant	NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg)	Achondrogenesis, type IA [RCV001372760]\|Achondrogenesis, type IA [RCV005394996]\|Inborn genetic diseases [RCV002550925]	uncertain significance	14	92004761	92004761	Human	2	name
127234428	CV1108914	single nucleotide variant	NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)	Achondrogenesis, type IA [RCV001449731]	pathogenic\|likely pathogenic	14	92004894	92004894	Human	1	name
150336858	CV1172652	insertion	NM_004239.4(TRIP11):c.5720-70_5720-69insTATG	not provided [RCV001541236]	benign	14	91969962	91969963	Human		name
151727444	CV1241939	single nucleotide variant	NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)	Achondrogenesis, type IA [RCV001844308]\|Odontochondrodysplasia 1 [RCV003992536]	pathogenic\|likely pathogenic	14	91975209	91975209	Human	2	name
150550931	CV1308786	single nucleotide variant	NM_004239.4(TRIP11):c.4614G>C (p.Lys1538Asn)	not provided [RCV001766290]	uncertain significance	14	92000052	92000052	Human		name
151351230	CV1321156	single nucleotide variant	NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val)	Achondrogenesis, type IA [RCV002542333]\|not provided [RCV001810811]	uncertain significance	14	91993901	91993901	Human	1	name
151352649	CV1321746	single nucleotide variant	NM_004239.4(TRIP11):c.3817A>C (p.Ser1273Arg)	not provided [RCV001812606]	uncertain significance	14	92004159	92004159	Human		name
151757474	CV1340397	single nucleotide variant	NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile)	Achondrogenesis, type IA [RCV001913602]\|not provided [RCV003136297]	uncertain significance	14	91975195	91975195	Human	1	name
151811040	CV1340891	single nucleotide variant	NM_004239.4(TRIP11):c.4673T>A (p.Met1558Lys)	Achondrogenesis, type IA [RCV001974774]\|Inborn genetic diseases [RCV003303456]	uncertain significance	14	91999993	91999993	Human	2	name
151858139	CV1347578	single nucleotide variant	NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val)	Achondrogenesis, type IA [RCV002034033]	uncertain significance	14	91969884	91969884	Human	1	name
151829309	CV1362297	single nucleotide variant	NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr)	Achondrogenesis, type IA [RCV001993552]	uncertain significance	14	92004509	92004509	Human	1	name
151771835	CV1366447	single nucleotide variant	NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala)	Achondrogenesis, type IA [RCV001929594]\|Inborn genetic diseases [RCV003289245]	uncertain significance	14	92003957	92003957	Human	2	name
151802222	CV1375270	single nucleotide variant	NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys)	Achondrogenesis, type IA [RCV001953035]	uncertain significance	14	92003811	92003811	Human	1	name
151738245	CV1379139	single nucleotide variant	NM_004239.4(TRIP11):c.5034G>A (p.Met1678Ile)	Achondrogenesis, type IA [RCV001911666]\|Inborn genetic diseases [RCV004681304]	uncertain significance	14	91995374	91995374	Human	2	name
151883411	CV1384209	single nucleotide variant	NM_004239.4(TRIP11):c.3797A>G (p.Asp1266Gly)	Achondrogenesis, type IA [RCV001886936]	uncertain significance	14	92004179	92004179	Human	1	name
151764895	CV1387403	single nucleotide variant	NM_004239.4(TRIP11):c.4692G>C (p.Gln1564His)	Achondrogenesis, type IA [RCV001987678]	uncertain significance	14	91999974	91999974	Human	1	name
151856370	CV1387561	single nucleotide variant	NM_004239.4(TRIP11):c.3821A>G (p.Tyr1274Cys)	Achondrogenesis, type IA [RCV001996587]	uncertain significance	14	92004155	92004155	Human	1	name
151839564	CV1391237	single nucleotide variant	NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly)	Achondrogenesis, type IA [RCV001977524]	uncertain significance	14	91999304	91999304	Human	1	name
151754433	CV1391315	single nucleotide variant	NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)	Achondrogenesis, type IA [RCV001969529]\|Connective tissue disorder [RCV002276965]\|not provided [RCV003738120]	uncertain significance	14	91969713	91969713	Human	2	name
151867266	CV1394220	single nucleotide variant	NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe)	Achondrogenesis, type IA [RCV002035209]\|Inborn genetic diseases [RCV005288555]	uncertain significance	14	92004357	92004357	Human	2	name
151743936	CV1398225	single nucleotide variant	NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys)	Achondrogenesis, type IA [RCV002042519]	uncertain significance	14	92004843	92004843	Human	1	name
151889014	CV1402510	single nucleotide variant	NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val)	Achondrogenesis, type IA [RCV001942708]	uncertain significance	14	91993891	91993891	Human	1	name
151843325	CV1408748	single nucleotide variant	NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile)	Achondrogenesis, type IA [RCV002015604]	uncertain significance	14	91974715	91974715	Human	1	name
151768173	CV1409466	single nucleotide variant	NM_004239.4(TRIP11):c.3910C>A (p.Leu1304Ile)	Achondrogenesis, type IA [RCV001896068]	uncertain significance	14	92004066	92004066	Human	1	name
151722548	CV1412167	single nucleotide variant	NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys)	Achondrogenesis, type IA [RCV001891316]\|Inborn genetic diseases [RCV003247114]	uncertain significance	14	92004462	92004462	Human	2	name
151826594	CV1414805	single nucleotide variant	NM_004239.4(TRIP11):c.4805C>T (p.Ala1602Val)	Achondrogenesis, type IA [RCV001920081]	uncertain significance	14	91999327	91999327	Human	1	name
151809336	CV1417218	single nucleotide variant	NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys)	Achondrogenesis, type IA [RCV002028813]\|Achondrogenesis, type IA [RCV005008400]	uncertain significance	14	92003529	92003529	Human	1	name
151822689	CV1418919	single nucleotide variant	NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val)	Achondrogenesis, type IA [RCV001954916]\|Inborn genetic diseases [RCV004044212]	uncertain significance	14	92004465	92004465	Human	2	name
151860674	CV1438559	single nucleotide variant	NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly)	Achondrogenesis, type IA [RCV001923954]	uncertain significance	14	91988370	91988370	Human	1	name
151846937	CV1443005	single nucleotide variant	NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe)	Achondrogenesis, type IA [RCV002016044]	uncertain significance	14	92004937	92004937	Human	1	name
151740071	CV1451641	single nucleotide variant	NM_004239.4(TRIP11):c.5200T>C (p.Ser1734Pro)	Achondrogenesis, type IA [RCV002022238]	uncertain significance	14	91988344	91988344	Human	1	name
151738273	CV1455038	single nucleotide variant	NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile)	Achondrogenesis, type IA [RCV002005552]\|not provided [RCV003883734]	uncertain significance	14	91976143	91976143	Human	1	name
151798163	CV1480232	single nucleotide variant	NM_004239.4(TRIP11):c.4182A>T (p.Glu1394Asp)	Achondrogenesis, type IA [RCV001952672]\|Inborn genetic diseases [RCV003348645]	uncertain significance	14	92003794	92003794	Human	2	name
151855190	CV1482013	single nucleotide variant	NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro)	Achondrogenesis, type IA [RCV002033683]	uncertain significance	14	92003495	92003495	Human	1	name
151865711	CV1484256	single nucleotide variant	NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly)	Achondrogenesis, type IA [RCV001959796]	uncertain significance	14	92003903	92003903	Human	1	name
151727645	CV1488528	single nucleotide variant	NM_004239.4(TRIP11):c.3631C>T (p.Arg1211Cys)	Achondrogenesis, type IA [RCV001966785]	uncertain significance	14	92004345	92004345	Human	1	name
151739483	CV1490402	single nucleotide variant	NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile)	Achondrogenesis, type IA [RCV001985098]	uncertain significance	14	92003646	92003646	Human	1	name
151741818	CV1494899	single nucleotide variant	NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile)	Achondrogenesis, type IA [RCV001968215]	uncertain significance	14	92004743	92004743	Human	1	name
151760209	CV1497155	single nucleotide variant	NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys)	Achondrogenesis, type IA [RCV001987172]	uncertain significance	14	91969837	91969837	Human	1	name
151885470	CV1507040	single nucleotide variant	NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser)	Achondrogenesis, type IA [RCV001962550]	uncertain significance	14	92004695	92004695	Human	1	name
151753279	CV1508982	single nucleotide variant	NM_004239.4(TRIP11):c.3821A>T (p.Tyr1274Phe)	Achondrogenesis, type IA [RCV002043509]	uncertain significance	14	92004155	92004155	Human	1	name
153302179	CV1688098	single nucleotide variant	NM_004239.4(TRIP11):c.5818C>A (p.Pro1940Thr)	not provided [RCV002265324]	uncertain significance	14	91969795	91969795	Human		name
153347838	CV1694886	single nucleotide variant	NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn)	Connective tissue disorder [RCV002278817]	uncertain significance	14	91988323	91988323	Human	1	name
153347839	CV1694887	single nucleotide variant	NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg)	Connective tissue disorder [RCV002278818]	uncertain significance	14	91975261	91975261	Human	1	name
155749391	CV1773576	single nucleotide variant	NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe)	Achondrogenesis, type IA [RCV002304601]	uncertain significance	14	91975220	91975220	Human	1	name
155798410	CV1861989	single nucleotide variant	NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter)	Achondrogenesis, type IA [RCV002471392]	pathogenic	14	91976181	91976181	Human	1	name
156372657	CV1878493	single nucleotide variant	NM_004239.4(TRIP11):c.3823G>A (p.Glu1275Lys)	Achondrogenesis, type IA [RCV003066431]	uncertain significance	14	92004153	92004153	Human	1	name
156183418	CV1884800	single nucleotide variant	NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser)	Achondrogenesis, type IA [RCV003083636]	uncertain significance	14	91995486	91995486	Human	1	name
156413186	CV1887730	single nucleotide variant	NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)	Achondrogenesis, type IA [RCV003073191]	uncertain significance	14	91995405	91995405	Human	1	name
156406659	CV1891252	single nucleotide variant	NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)	Achondrogenesis, type IA [RCV003070446]\|Achondrogenesis, type IA [RCV005399098]	uncertain significance	14	91999378	91999378	Human	1	name
156406662	CV1891254	single nucleotide variant	NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys)	Achondrogenesis, type IA [RCV003070447]	uncertain significance	14	92004023	92004023	Human	1	name
156178119	CV1891965	single nucleotide variant	NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His)	Achondrogenesis, type IA [RCV003083464]	uncertain significance	14	91999342	91999342	Human	1	name
156361170	CV1898970	single nucleotide variant	NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)	Achondrogenesis, type IA [RCV003091720]\|Inborn genetic diseases [RCV005301248]	uncertain significance	14	91976165	91976165	Human	2	name
156099879	CV1907013	single nucleotide variant	NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu)	Achondrogenesis, type IA [RCV003080560]	uncertain significance	14	91999310	91999310	Human	1	name
10049849	CV191037	single nucleotide variant	NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)	Achondrogenesis, type IA [RCV000340266]\|Inborn genetic diseases [RCV004965293]\|not provided [RCV000174095]	conflicting interpretations of pathogenicity\|uncertain significance	14	92003913	92003913	Human	2	name
10050266	CV191669	single nucleotide variant	NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)	Achondrogenesis, type IA [RCV001085934]\|Connective tissue disorder [RCV002277346]\|Inborn genetic diseases [RCV002516651]\|not provided [RCV000724732]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91993832	91993832	Human	3	name
10047999	CV191905	single nucleotide variant	NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)	Achondrogenesis, type IA [RCV001089222]\|TRIP11-related disorder [RCV003927601]\|not provided [RCV000841294]\|not specified [RCV000175183]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	91976152	91976152	Human	2	name , trait , alternate_id
10048069	CV192116	single nucleotide variant	NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser)	Achondrogenesis, type IA [RCV000303439]\|Odontochondrodysplasia 1 [RCV001838554]\|not provided [RCV001812154]\|not specified [RCV000175447]	benign	14	91974722	91974722	Human	2	name
156204739	CV1922642	single nucleotide variant	NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)	Achondrogenesis, type IA [RCV002643765]	uncertain significance	14	91974671	91974671	Human	1	name
156160365	CV1933175	single nucleotide variant	NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr)	Achondrogenesis, type IA [RCV002624346]	uncertain significance	14	92004809	92004809	Human	1	name
156436945	CV1936770	single nucleotide variant	NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)	Achondrogenesis, type IA [RCV003106471]	uncertain significance	14	91969728	91969728	Human	1	name
156251324	CV1963739	single nucleotide variant	NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg)	Achondrogenesis, type IA [RCV002576549]	uncertain significance	14	92004248	92004248	Human	1	name
156073037	CV1972054	single nucleotide variant	NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg)	Achondrogenesis, type IA [RCV002591328]	uncertain significance	14	92003936	92003936	Human	1	name
156235630	CV1999571	single nucleotide variant	NM_004239.4(TRIP11):c.3622C>A (p.Leu1208Ile)	Achondrogenesis, type IA [RCV002667745]	uncertain significance	14	92004354	92004354	Human	1	name
156057701	CV1999729	single nucleotide variant	NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro)	Achondrogenesis, type IA [RCV002659578]	uncertain significance	14	92003457	92003457	Human	1	name
156210265	CV2018837	single nucleotide variant	NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val)	Achondrogenesis, type IA [RCV002700600]	uncertain significance	14	91969725	91969725	Human	1	name
155914224	CV2026220	single nucleotide variant	NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp)	Achondrogenesis, type IA [RCV002750362]	uncertain significance	14	92003542	92003542	Human	1	name
155908485	CV2044604	single nucleotide variant	NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg)	Achondrogenesis, type IA [RCV002771409]	uncertain significance	14	92000099	92000099	Human	1	name
156379460	CV2050787	single nucleotide variant	NM_004239.4(TRIP11):c.3629A>T (p.Glu1210Val)	Achondrogenesis, type IA [RCV002814974]	uncertain significance	14	92004347	92004347	Human	1	name
156300388	CV2075881	single nucleotide variant	NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)	Achondrogenesis, type IA [RCV002857141]	pathogenic	14	91975237	91975237	Human	1	name
156199114	CV2092410	single nucleotide variant	NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val)	Achondrogenesis, type IA [RCV002917723]	uncertain significance	14	92004962	92004962	Human	1	name
156332325	CV2094902	single nucleotide variant	NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val)	Achondrogenesis, type IA [RCV002900001]	uncertain significance	14	92004203	92004203	Human	1	name
156084451	CV2095006	single nucleotide variant	NM_004239.4(TRIP11):c.3091G>A (p.Glu1031Lys)	Achondrogenesis, type IA [RCV002912813]	likely benign\|uncertain significance	14	92004885	92004885	Human	1	name
156133697	CV2113167	single nucleotide variant	NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val)	Achondrogenesis, type IA [RCV002928298]	uncertain significance	14	92004501	92004501	Human	1	name
156381115	CV2118007	single nucleotide variant	NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg)	Achondrogenesis, type IA [RCV002943149]	uncertain significance	14	92000059	92000059	Human	1	name
156299062	CV2119395	single nucleotide variant	NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser)	Achondrogenesis, type IA [RCV002962055]	uncertain significance	14	91995474	91995474	Human	1	name
156223044	CV2121668	single nucleotide variant	NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg)	Achondrogenesis, type IA [RCV002958220]	uncertain significance	14	91974646	91974646	Human	1	name
156272963	CV2136653	single nucleotide variant	NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys)	Achondrogenesis, type IA [RCV003009332]\|Inborn genetic diseases [RCV005288870]	likely benign\|uncertain significance	14	92003558	92003558	Human	2	name
156334734	CV2214810	single nucleotide variant	NM_004239.4(TRIP11):c.5158C>A (p.Gln1720Lys)	Inborn genetic diseases [RCV002673746]	uncertain significance	14	91993811	91993811	Human	1	name
156180961	CV2226018	single nucleotide variant	NM_004239.4(TRIP11):c.4935G>C (p.Leu1645Phe)	Inborn genetic diseases [RCV002742278]	uncertain significance	14	91995473	91995473	Human	1	name
156061120	CV2236066	single nucleotide variant	NM_004239.4(TRIP11):c.4460T>A (p.Met1487Lys)	Inborn genetic diseases [RCV002782609]	uncertain significance	14	92003516	92003516	Human	1	name
156078569	CV2248496	single nucleotide variant	NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)	Achondrogenesis, type IA [RCV003614202]\|Inborn genetic diseases [RCV002783591]	uncertain significance	14	91975218	91975218	Human	2	name
156093739	CV2252889	single nucleotide variant	NM_004239.4(TRIP11):c.4315C>A (p.Leu1439Ile)	Inborn genetic diseases [RCV002798673]	uncertain significance	14	92003661	92003661	Human	1	name
156239473	CV2269174	single nucleotide variant	NM_004239.4(TRIP11):c.3211C>G (p.Leu1071Val)	Inborn genetic diseases [RCV002830433]	uncertain significance	14	92004765	92004765	Human	1	name
156258138	CV2277713	single nucleotide variant	NM_004239.4(TRIP11):c.4264C>G (p.Gln1422Glu)	Inborn genetic diseases [RCV002855243]	uncertain significance	14	92003712	92003712	Human	1	name
155941285	CV2294225	single nucleotide variant	NM_004239.4(TRIP11):c.5893C>G (p.Pro1965Ala)	Inborn genetic diseases [RCV002879680]	uncertain significance	14	91969720	91969720	Human	1	name
156279641	CV2325312	single nucleotide variant	NM_004239.4(TRIP11):c.4915G>A (p.Glu1639Lys)	Inborn genetic diseases [RCV002921630]	uncertain significance	14	91995493	91995493	Human	1	name
156287956	CV2327368	single nucleotide variant	NM_004239.4(TRIP11):c.4585T>G (p.Leu1529Val)	Inborn genetic diseases [RCV002935386]	uncertain significance	14	92000081	92000081	Human	1	name
243050530	CV2403871	single nucleotide variant	NM_004239.4(TRIP11):c.5408T>G (p.Leu1803Ter)	See cases [RCV003128542]	pathogenic	14	91975221	91975221	Human		name
243064205	CV2411252	single nucleotide variant	NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)	Achondrogenesis, type IA [RCV003614204]\|not provided [RCV003142824]	uncertain significance	14	91972773	91972773	Human	1	name
329366384	CV2445694	single nucleotide variant	NM_004239.4(TRIP11):c.5371C>T (p.His1791Tyr)	Inborn genetic diseases [RCV003207721]	uncertain significance	14	91975258	91975258	Human	1	name
329352565	CV2453212	single nucleotide variant	NM_004239.4(TRIP11):c.4679A>G (p.Asn1560Ser)	Inborn genetic diseases [RCV003200603]	uncertain significance	14	91999987	91999987	Human	1	name
329395876	CV2463034	single nucleotide variant	NM_004239.4(TRIP11):c.4501C>G (p.His1501Asp)	Inborn genetic diseases [RCV003219300]	uncertain significance	14	92003475	92003475	Human	1	name
11636351	CV265850	single nucleotide variant	NM_004239.4(TRIP11):c.5051A>G (p.Gln1684Arg)	not provided [RCV000264962]	uncertain significance	14	91995357	91995357	Human		name
11636023	CV272444	single nucleotide variant	NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)	Achondrogenesis, type IA [RCV001088960]\|Connective tissue disorder [RCV002278312]\|TRIP11-related disorder [RCV003910010]\|not provided [RCV000726133]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91974664	91974664	Human	3	name , trait , alternate_id
401766551	CV2725609	single nucleotide variant	NM_004239.4(TRIP11):c.4274C>A (p.Ser1425Tyr)	Inborn genetic diseases [RCV003282601]	uncertain significance	14	92003702	92003702	Human	1	name
11635994	CV274101	single nucleotide variant	NM_004239.4(TRIP11):c.4691A>C (p.Gln1564Pro)	not provided [RCV000261319]	uncertain significance	14	91999975	91999975	Human		name
11579289	CV275002	single nucleotide variant	NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)	Achondrogenesis, type IA [RCV000755412]\|Connective tissue disorder [RCV002278324]\|Inborn genetic diseases [RCV002518149]\|TRIP11-related disorder [RCV003910042]\|not provided [RCV001705435]\|not specified [RCV000359112]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92004372	92004372	Human	4	name , trait , alternate_id
401889885	CV2763525	single nucleotide variant	NM_004239.4(TRIP11):c.3632G>A (p.Arg1211His)	Inborn genetic diseases [RCV003354143]	uncertain significance	14	92004344	92004344	Human	1	name
401863443	CV2765799	single nucleotide variant	NM_004239.4(TRIP11):c.4384A>G (p.Lys1462Glu)	Inborn genetic diseases [RCV003358946]	uncertain significance	14	92003592	92003592	Human	1	name
401921104	CV2802209	single nucleotide variant	NM_004239.4(TRIP11):c.4036C>T (p.Gln1346Ter)	TRIP11-related disorder [RCV003402819]	likely pathogenic	14	92003940	92003940	Human		name , trait , alternate_id
402474756	CV2858492	single nucleotide variant	NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)	Achondrogenesis, type IA [RCV003505497]\|Inborn genetic diseases [RCV004963683]\|TRIP11-related disorder [RCV003901101]	uncertain significance	14	91988310	91988310	Human	3	name , trait , alternate_id
402480149	CV2882944	single nucleotide variant	NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)	Achondrogenesis, type IA [RCV003506378]	uncertain significance	14	92003958	92003958	Human	1	name
402481198	CV2890575	single nucleotide variant	NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)	Achondrogenesis, type IA [RCV003506502]	uncertain significance	14	91969851	91969851	Human	1	name
402472191	CV2919924	single nucleotide variant	NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu)	Achondrogenesis, type IA [RCV003504835]	likely benign	14	91974652	91974652	Human	1	name
402475355	CV2929630	single nucleotide variant	NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)	Achondrogenesis, type IA [RCV003505610]	pathogenic	14	91974682	91974682	Human	1	name
405105022	CV2944463	single nucleotide variant	NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)	Achondrogenesis, type IA [RCV003614295]	uncertain significance	14	91999315	91999315	Human	1	name
405105589	CV2960909	single nucleotide variant	NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)	Achondrogenesis, type IA [RCV003614419]	uncertain significance	14	92000062	92000062	Human	1	name
405106438	CV3004107	single nucleotide variant	NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)	Achondrogenesis, type IA [RCV003614602]	pathogenic	14	92004708	92004708	Human	1	name
405108893	CV3051255	single nucleotide variant	NM_004239.4(TRIP11):c.4006G>C (p.Glu1336Gln)	Achondrogenesis, type IA [RCV003615159]	uncertain significance	14	92003970	92003970	Human	1	name
405254039	CV3174947	single nucleotide variant	NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)	Achondrogenesis, type IA [RCV003871399]	uncertain significance	14	92003584	92003584	Human	1	name
402501855	CV3181029	single nucleotide variant	NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)	Achondrogenesis, type IA [RCV003878046]	uncertain significance	14	92003696	92003696	Human	1	name
405273916	CV3194887	single nucleotide variant	NM_004239.4(TRIP11):c.4898A>G (p.Gln1633Arg)	Inborn genetic diseases [RCV004968564]\|TRIP11-related disorder [RCV003902129]	uncertain significance	14	91995510	91995510	Human	2	name , trait , alternate_id
11610386	CV321783	single nucleotide variant	NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val)	Achondrogenesis, type IA [RCV000972511]\|Connective tissue disorder [RCV002278404]\|not provided [RCV001812827]\|not specified [RCV000611847]	benign\|likely benign	14	92003469	92003469	Human	2	name
11601531	CV321784	single nucleotide variant	NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile)	Achondrogenesis, type IA [RCV000887814]\|Connective tissue disorder [RCV002278406]\|not provided [RCV003654252]\|not specified [RCV000506817]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92003837	92003837	Human	2	name
11612245	CV321785	single nucleotide variant	NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp)	Achondrogenesis, type IA [RCV000704676]\|Inborn genetic diseases [RCV004021626]	uncertain significance	14	92003926	92003926	Human	2	name
11604788	CV321789	single nucleotide variant	NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe)	Achondrogenesis, type IA [RCV000312673]\|Inborn genetic diseases [RCV003165849]\|TRIP11-related disorder [RCV003930349]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	92004876	92004876	Human	3	name , trait , alternate_id
405690399	CV3224802	single nucleotide variant	NM_004239.4(TRIP11):c.4894C>T (p.His1632Tyr)	Odontochondrodysplasia 1 [RCV003990182]	uncertain significance	14	91995514	91995514	Human	1	name
11615967	CV331102	single nucleotide variant	NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His)	Achondrogenesis, type IA [RCV000290540]\|not provided [RCV004591120]	uncertain significance	14	91969836	91969836	Human	1	name
11622049	CV331109	single nucleotide variant	NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys)	Achondrogenesis, type IA [RCV000355724]\|Connective tissue disorder [RCV002278401]\|not provided [RCV001812824]\|not specified [RCV000613274]	benign\|likely benign	14	91993883	91993883	Human	2	name
405797814	CV3347384	single nucleotide variant	NM_004239.4(TRIP11):c.3904A>G (p.Lys1302Glu)	Inborn genetic diseases [RCV004476309]	uncertain significance	14	92004072	92004072	Human	1	name
405797817	CV3347385	single nucleotide variant	NM_004239.4(TRIP11):c.4043A>T (p.Glu1348Val)	Inborn genetic diseases [RCV004476310]	uncertain significance	14	92003933	92003933	Human	1	name
405797820	CV3347386	single nucleotide variant	NM_004239.4(TRIP11):c.4322G>T (p.Arg1441Met)	Inborn genetic diseases [RCV004476311]	uncertain significance	14	92003654	92003654	Human	1	name
405797823	CV3347387	single nucleotide variant	NM_004239.4(TRIP11):c.4487A>G (p.Lys1496Arg)	Inborn genetic diseases [RCV004476312]	uncertain significance	14	92003489	92003489	Human	1	name
405797826	CV3347388	single nucleotide variant	NM_004239.4(TRIP11):c.5068A>T (p.Met1690Leu)	Inborn genetic diseases [RCV004476313]	uncertain significance	14	91993901	91993901	Human	1	name
405797830	CV3347389	single nucleotide variant	NM_004239.4(TRIP11):c.5179A>G (p.Asn1727Asp)	Inborn genetic diseases [RCV004476314]	uncertain significance	14	91988365	91988365	Human	1	name
405797833	CV3347390	single nucleotide variant	NM_004239.4(TRIP11):c.5566G>A (p.Val1856Ile)	Inborn genetic diseases [RCV004476315]	uncertain significance	14	91974635	91974635	Human	1	name
11625045	CV337854	single nucleotide variant	NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys)	Achondrogenesis, type IA [RCV000394299]\|Connective tissue disorder [RCV002278400]\|not provided [RCV004714903]\|not specified [RCV000419970]	benign\|likely benign	14	91988289	91988289	Human	2	name
11614341	CV337857	single nucleotide variant	NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His)	Achondrogenesis, type IA [RCV000276143]\|Connective tissue disorder [RCV002278403]\|not provided [RCV001812826]\|not specified [RCV000434256]	benign\|uncertain significance	14	91999405	91999405	Human	2	name
11624321	CV337861	single nucleotide variant	NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)	Achondrogenesis, type IA [RCV000893258]\|Inborn genetic diseases [RCV003278760]\|not specified [RCV000508397]	benign\|likely benign\|uncertain significance	14	92003817	92003817	Human	2	name
11625470	CV337864	single nucleotide variant	NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val)	Achondrogenesis, type IA [RCV000952728]\|Connective tissue disorder [RCV002278409]\|not provided [RCV003656107]\|not specified [RCV000430535]	benign\|likely benign	14	92004858	92004858	Human	2	name
11621354	CV339857	single nucleotide variant	NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg)	Achondrogenesis, type IA [RCV000962507]\|Connective tissue disorder [RCV002278399]\|TRIP11-related disorder [RCV003920316]\|not provided [RCV003736712]\|not specified [RCV000428124]	benign\|likely benign	14	91972785	91972785	Human	3	name , trait , alternate_id
11616832	CV339858	single nucleotide variant	NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly)	Achondrogenesis, type IA [RCV000298501]\|not provided [RCV001572391]	uncertain significance	14	91988352	91988352	Human	1	name
11656020	CV339864	single nucleotide variant	NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala)	Achondrogenesis, type IA [RCV000330135]	uncertain significance	14	91999352	91999352	Human	1	name
11649336	CV339874	single nucleotide variant	NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu)	Achondrogenesis, type IA [RCV000286569]	uncertain significance	14	92004192	92004192	Human	1	name
407454206	CV3490786	single nucleotide variant	NM_004239.4(TRIP11):c.5401G>A (p.Glu1801Lys)	Inborn genetic diseases [RCV004684900]	uncertain significance	14	91975228	91975228	Human	1	name
407454207	CV3490788	single nucleotide variant	NM_004239.4(TRIP11):c.3278C>T (p.Ala1093Val)	Inborn genetic diseases [RCV004684901]	uncertain significance	14	92004698	92004698	Human	1	name
407454208	CV3490790	single nucleotide variant	NM_004239.4(TRIP11):c.3883A>G (p.Ile1295Val)	Inborn genetic diseases [RCV004684902]	uncertain significance	14	92004093	92004093	Human	1	name
407454211	CV3490794	single nucleotide variant	NM_004239.4(TRIP11):c.5465A>C (p.His1822Pro)	Inborn genetic diseases [RCV004684905]	uncertain significance	14	91974736	91974736	Human	1	name
407454215	CV3490798	single nucleotide variant	NM_004239.4(TRIP11):c.3317A>G (p.Asn1106Ser)	Inborn genetic diseases [RCV004684909]	likely benign	14	92004659	92004659	Human	1	name
408369190	CV3509183	single nucleotide variant	NM_004239.4(TRIP11):c.3355T>C (p.Tyr1119His)	TRIP11-related disorder [RCV004736633]	uncertain significance	14	92004621	92004621	Human		name , trait , alternate_id
408390072	CV3519186	single nucleotide variant	NM_004239.4(TRIP11):c.5210C>T (p.Thr1737Ile)	not provided [RCV004762495]	uncertain significance	14	91988334	91988334	Human		name
408386334	CV3528874	single nucleotide variant	NM_004239.4(TRIP11):c.5163A>T (p.Glu1721Asp)	not provided [RCV004772707]	uncertain significance	14	91988381	91988381	Human		name
597625246	CV3614692	single nucleotide variant	NM_004239.4(TRIP11):c.3776A>C (p.Asn1259Thr)	Inborn genetic diseases [RCV004964447]	uncertain significance	14	92004200	92004200	Human	1	name
597625247	CV3614693	single nucleotide variant	NM_004239.4(TRIP11):c.5215C>A (p.Gln1739Lys)	Inborn genetic diseases [RCV004964448]	uncertain significance	14	91988329	91988329	Human	1	name
597625250	CV3614695	single nucleotide variant	NM_004239.4(TRIP11):c.3302T>C (p.Val1101Ala)	Inborn genetic diseases [RCV004964450]	uncertain significance	14	92004674	92004674	Human	1	name
597625255	CV3614698	single nucleotide variant	NM_004239.4(TRIP11):c.5224G>A (p.Val1742Ile)	Inborn genetic diseases [RCV004964453]	uncertain significance	14	91988320	91988320	Human	1	name
597625259	CV3614700	single nucleotide variant	NM_004239.4(TRIP11):c.4672A>G (p.Met1558Val)	Inborn genetic diseases [RCV004964455]	uncertain significance	14	91999994	91999994	Human	1	name
597625267	CV3614705	single nucleotide variant	NM_004239.4(TRIP11):c.3602G>T (p.Ser1201Ile)	Inborn genetic diseases [RCV004964460]	uncertain significance	14	92004374	92004374	Human	1	name
597625273	CV3614708	single nucleotide variant	NM_004239.4(TRIP11):c.3094A>C (p.Ile1032Leu)	Inborn genetic diseases [RCV004964463]	uncertain significance	14	92004882	92004882	Human	1	name
597625274	CV3614709	single nucleotide variant	NM_004239.4(TRIP11):c.4873A>G (p.Asn1625Asp)	Inborn genetic diseases [RCV004964464]	uncertain significance	14	91999259	91999259	Human	1	name
597952324	CV3756605	single nucleotide variant	NM_004239.4(TRIP11):c.4580A>C (p.Gln1527Pro)	Achondrogenesis, type IA [RCV005079662]	uncertain significance	14	92000086	92000086	Human	1	name
597957146	CV3838438	single nucleotide variant	NM_004239.4(TRIP11):c.3499C>T (p.Arg1167Ter)	Achondrogenesis, type IA [RCV005191813]	pathogenic	14	92004477	92004477	Human	1	name
597903863	CV3846045	single nucleotide variant	NM_004239.4(TRIP11):c.4353A>G (p.Ile1451Met)	Achondrogenesis, type IA [RCV005181667]	uncertain significance	14	92003623	92003623	Human	1	name
597904182	CV3846117	single nucleotide variant	NM_004239.4(TRIP11):c.3876G>C (p.Gln1292His)	Achondrogenesis, type IA [RCV005181739]	uncertain significance	14	92004100	92004100	Human	1	name
598127445	CV3882670	single nucleotide variant	NM_004239.4(TRIP11):c.3735G>C (p.Glu1245Asp)	not provided [RCV005234200]	uncertain significance	14	92004241	92004241	Human		name
598214470	CV3931880	single nucleotide variant	NM_004239.4(TRIP11):c.4705C>T (p.Arg1569Cys)	Inborn genetic diseases [RCV005292535]	uncertain significance	14	91999427	91999427	Human	1	name
598214473	CV3931883	single nucleotide variant	NM_004239.4(TRIP11):c.5396G>C (p.Arg1799Pro)	Inborn genetic diseases [RCV005292536]	uncertain significance	14	91975233	91975233	Human	1	name
598214475	CV3931884	single nucleotide variant	NM_004239.4(TRIP11):c.3152A>G (p.Lys1051Arg)	Inborn genetic diseases [RCV005292537]	uncertain significance	14	92004824	92004824	Human	1	name
598236142	CV3931885	single nucleotide variant	NM_004239.4(TRIP11):c.5423G>A (p.Ser1808Asn)	Inborn genetic diseases [RCV005295970]	uncertain significance	14	91975206	91975206	Human	1	name
598214478	CV3931887	single nucleotide variant	NM_004239.4(TRIP11):c.4645G>T (p.Val1549Phe)	Inborn genetic diseases [RCV005292538]	uncertain significance	14	92000021	92000021	Human	1	name
12906190	CV415408	single nucleotide variant	NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)	Achondrogenesis, type IA [RCV002063835]\|Inborn genetic diseases [RCV004023259]\|not provided [RCV000488927]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91969726	91969726	Human	2	name
13436519	CV433988	single nucleotide variant	NM_004239.4(TRIP11):c.5446G>A (p.Glu1816Lys)	not specified [RCV000507312]	uncertain significance	14	91975183	91975183	Human		name
13436860	CV433991	single nucleotide variant	NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile)	Achondrogenesis, type IA [RCV001117017]\|not provided [RCV000507891]	uncertain significance	14	92004105	92004105	Human	1	name
13462791	CV439045	single nucleotide variant	NM_004239.4(TRIP11):c.4087A>G (p.Ile1363Val)	not provided [RCV000514830]	uncertain significance	14	92003889	92003889	Human		name
13478894	CV445262	single nucleotide variant	NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)	Achondrogenesis, type IA [RCV001087540]\|Connective tissue disorder [RCV002279309]\|TRIP11-related disorder [RCV003915465]\|not provided [RCV000729388]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91972807	91972807	Human	3	name , trait , alternate_id
13497398	CV463596	single nucleotide variant	NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn)	Achondrogenesis, type IA [RCV000538594]	uncertain significance	14	91974731	91974731	Human	1	name
13518444	CV490299	single nucleotide variant	NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met)	Achondrogenesis, type IA [RCV001347327]\|not provided [RCV000597430]	uncertain significance	14	92003571	92003571	Human	1	name
13523634	CV491318	single nucleotide variant	NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His)	Achondrogenesis, type IA [RCV002483613]\|Achondrogenesis, type IA [RCV002532488]\|not provided [RCV000593250]	uncertain significance	14	91999420	91999420	Human	1	name
13532487	CV504909	single nucleotide variant	NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala)	Achondrogenesis, type IA [RCV001089432]\|Connective tissue disorder [RCV002279437]\|not provided [RCV001811109]\|not specified [RCV000601375]	benign	14	91988298	91988298	Human	2	name
13813297	CV569066	single nucleotide variant	NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)	Achondrogenesis, type IA [RCV000704268]	uncertain significance	14	91993820	91993820	Human	1	name
13818483	CV572969	single nucleotide variant	NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)	Achondrogenesis, type IA [RCV000707675]	uncertain significance	14	91974722	91974722	Human	1	name
13834025	CV585265	single nucleotide variant	NM_004239.4(TRIP11):c.5335G>T (p.Val1779Leu)	Inborn genetic diseases [RCV004026973]\|not provided [RCV000729436]	uncertain significance	14	91976115	91976115	Human	1	name
14393092	CV610504	single nucleotide variant	NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter)	Odontochondrodysplasia 1 [RCV000853510]	pathogenic\|likely pathogenic	14	92003442	92003442	Human	1	name
14393095	CV610507	single nucleotide variant	NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val)	Odontochondrodysplasia 1 [RCV000853511]	pathogenic\|likely pathogenic	14	91975213	91975213	Human	1	name
14706002	CV642782	single nucleotide variant	NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr)	Achondrogenesis, type IA [RCV000802753]	uncertain significance	14	92003846	92003846	Human	1	name
14709045	CV642783	single nucleotide variant	NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn)	Achondrogenesis, type IA [RCV000810999]	uncertain significance	14	92004606	92004606	Human	1	name
14744390	CV656273	single nucleotide variant	NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr)	Achondrogenesis, type IA [RCV001120188]\|Connective tissue disorder [RCV002279562]\|TRIP11-related disorder [RCV003955557]\|not provided [RCV000842729]	benign\|likely benign	14	91993844	91993844	Human	3	name , trait , alternate_id
15015307	CV679926	single nucleotide variant	NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter)	Achondrogenesis, type IA [RCV000853520]	pathogenic	14	92003849	92003849	Human	1	name
15015306	CV679927	single nucleotide variant	NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter)	Achondrogenesis, type IA [RCV000853519]\|not provided [RCV001597222]	likely pathogenic	14	92004014	92004014	Human	1	name
15015301	CV679928	single nucleotide variant	NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter)	Achondrogenesis, type IA [RCV000853513]\|not provided [RCV003489941]	pathogenic	14	92004305	92004305	Human	1	name
15015300	CV679929	single nucleotide variant	NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)	Achondrogenesis, type IA [RCV000853512]	pathogenic	14	92004498	92004498	Human	1	name
15179190	CV725858	single nucleotide variant	NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val)	Achondrogenesis, type IA [RCV000885235]	likely benign	14	91988305	91988305	Human	1	name
15192135	CV725859	single nucleotide variant	NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)	Achondrogenesis, type IA [RCV000888578]\|TRIP11-related disorder [RCV003948399]\|not provided [RCV001593124]	likely benign\|conflicting interpretations of pathogenicity	14	92003907	92003907	Human	2	name , trait , alternate_id
21405424	CV799786	single nucleotide variant	NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val)	Achondrogenesis, type IA [RCV001242515]\|Inborn genetic diseases [RCV002549133]\|not specified [RCV001000427]	uncertain significance	14	92004596	92004596	Human	2	name
8627587	CV82731	single nucleotide variant	NM_004239.3(TRIP11):c.4669C>A (p.Gln1557Lys)	Malignant melanoma [RCV000062811]	not provided	14	91999997	91999997	Human		name
26885497	CV841904	single nucleotide variant	NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val)	Achondrogenesis, type IA [RCV001043585]\|Inborn genetic diseases [RCV004031324]	uncertain significance	14	91995441	91995441	Human	2	name
26884498	CV841905	single nucleotide variant	NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu)	Achondrogenesis, type IA [RCV001064905]	uncertain significance	14	92003588	92003588	Human	1	name
26885493	CV841906	single nucleotide variant	NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg)	Achondrogenesis, type IA [RCV001043584]	uncertain significance	14	92003771	92003771	Human	1	name
28874493	CV872939	single nucleotide variant	NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr)	Achondrogenesis, type IA [RCV001115486]\|not provided [RCV001811664]	uncertain significance	14	91972779	91972779	Human	1	name
28874498	CV872940	single nucleotide variant	NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu)	Achondrogenesis, type IA [RCV001115487]	uncertain significance	14	91972806	91972806	Human	1	name
28878435	CV872943	single nucleotide variant	NM_004239.4(TRIP11):c.5449A>T (p.Met1817Leu)	Achondrogenesis, type IA [RCV001116905]	uncertain significance	14	91975180	91975180	Human	1	name
28889247	CV872945	single nucleotide variant	NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr)	Achondrogenesis, type IA [RCV001120187]	uncertain significance	14	91988347	91988347	Human	1	name
28890093	CV872946	single nucleotide variant	NM_004239.4(TRIP11):c.4851G>C (p.Glu1617Asp)	Achondrogenesis, type IA [RCV001120487]\|Inborn genetic diseases [RCV003246703]	uncertain significance	14	91999281	91999281	Human	2	name
28890095	CV872947	single nucleotide variant	NM_004239.4(TRIP11):c.4800G>C (p.Leu1600Phe)	Achondrogenesis, type IA [RCV001120488]	uncertain significance	14	91999332	91999332	Human	1	name
28890099	CV872948	single nucleotide variant	NM_004239.4(TRIP11):c.4760A>G (p.His1587Arg)	Achondrogenesis, type IA [RCV001120489]	uncertain significance	14	91999372	91999372	Human	1	name
28874711	CV872949	single nucleotide variant	NM_004239.4(TRIP11):c.4649T>C (p.Met1550Thr)	Achondrogenesis, type IA [RCV001115580]	uncertain significance	14	92000017	92000017	Human	1	name
28878782	CV872951	single nucleotide variant	NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn)	Achondrogenesis, type IA [RCV001117016]\|Achondrogenesis, type IA [RCV004726888]	likely benign\|uncertain significance	14	92003914	92003914	Human	1	name
28884096	CV872952	single nucleotide variant	NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg)	Achondrogenesis, type IA [RCV001118644]\|Inborn genetic diseases [RCV003259103]	uncertain significance	14	92004233	92004233	Human	2	name
28884101	CV872953	single nucleotide variant	NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly)	Achondrogenesis, type IA [RCV001118645]\|Inborn genetic diseases [RCV004032211]	uncertain significance	14	92004563	92004563	Human	2	name
28890356	CV872954	single nucleotide variant	NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met)	Achondrogenesis, type IA [RCV001120587]\|Inborn genetic diseases [RCV002556590]\|not provided [RCV005051859]	uncertain significance	14	92004856	92004856	Human	2	name
8635336	CV90558	single nucleotide variant	NM_004239.3(TRIP11):c.5791C>T (p.Pro1931Ser)	Malignant melanoma [RCV000070656]	not provided	14	91969822	91969822	Human		name
38492340	CV927195	single nucleotide variant	NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu)	Achondrogenesis, type IA [RCV001223520]	uncertain significance	14	92003646	92003646	Human	1	name
38477298	CV948724	single nucleotide variant	NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys)	Achondrogenesis, type IA [RCV001233425]\|Inborn genetic diseases [RCV004033202]\|Odontochondrodysplasia 1 [RCV003448379]	uncertain significance	14	91999406	91999406	Human	3	name
38498577	CV957338	single nucleotide variant	NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly)	Achondrogenesis, type IA [RCV001243899]	uncertain significance	14	92004096	92004096	Human	1	name
41405796	CV981886	single nucleotide variant	NM_004239.4(TRIP11):c.5645C>A (p.Ser1882Tyr)	not provided [RCV001810571]	uncertain significance	14	91972791	91972791	Human		name
126762061	CV996048	single nucleotide variant	NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile)	Achondrogenesis, type IA [RCV001300277]	uncertain significance	14	92004381	92004381	Human	1	name
151726765	CV1387225	deletion	NM_004239.4(TRIP11):c.774_777del (p.Ser259fs)	Achondrogenesis, type IA [RCV001910439]	pathogenic	14	92015742	92015745	Human	1	name
402475298	CV2929309	microsatellite	NM_004239.4(TRIP11):c.944_948del (p.Ile315fs)	Achondrogenesis, type IA [RCV003505601]	pathogenic	14	92014453	92014457	Human		name
598221019	CV3891880	duplication	NM_004239.4(TRIP11):c.808_809dup (p.Asn270fs)	Achondrogenesis, type IA [RCV005253218]	likely pathogenic	14	92015709	92015710	Human	1	name
14706017	CV642786	microsatellite	NM_004239.4(TRIP11):c.988_989del (p.Asp330fs)	Achondrogenesis, type IA [RCV000802803]	pathogenic	14	92014412	92014413	Human		name
155683214	CV1784687	insertion	NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs)	Achondrogenesis, type IA [RCV002310611]	pathogenic	14	92021562	92021563	Human	1	name
13838165	CV589461	microsatellite	NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del)	Achondrogenesis, type IA [RCV002067173]\|not specified [RCV000734782]	likely benign	14	92006119	92006121	Human		name
150546979	CV1313993	deletion	NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs)	Connective tissue disorder [RCV002276894]	pathogenic\|likely pathogenic	14	92005024	92005027	Human	1	name
150546985	CV1313995	microsatellite	NM_004239.4(TRIP11):c.2008_2011del (p.Lys670fs)	not provided [RCV001785088]	pathogenic	14	92005965	92005968	Human		name
151661279	CV1329800	duplication	NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs)	Achondrogenesis, type IA [RCV001822984]	likely pathogenic	14	92014292	92014293	Human	1	name
12907449	CV227364	deletion	NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs)	Achondrogenesis, type IA [RCV000490493]	likely pathogenic	14	92005475	92005478	Human	1	name
401902170	CV2810649	microsatellite	NM_004239.4(TRIP11):c.1942_1943del (p.Glu648fs)	not provided [RCV003393564]	pathogenic	14	92006033	92006034	Human		name
13705922	CV536878	microsatellite	NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs)	Achondrogenesis, type IA [RCV002534290]\|not provided [RCV000658468]	pathogenic\|likely pathogenic	14	92005506	92005509	Human		name
14393091	CV610503	deletion	NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs)	Odontochondrodysplasia 1 [RCV000757983]	pathogenic	14	92004982	92004983	Human	1	name
14393096	CV610508	deletion	NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs)	Achondrogenesis, type IA [RCV000757989]\|Odontochondrodysplasia 1 [RCV000757988]	pathogenic	14	92005847	92005848	Human	2	name
14393098	CV610510	microsatellite	NM_004239.4(TRIP11):c.2304_2307del (p.Asn768fs)	Achondrogenesis, type IA [RCV000757991]	pathogenic	14	92005669	92005672	Human		name
14693077	CV620498	microsatellite	NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs)	Achondrogenesis, type IA [RCV000778420]\|not provided [RCV001784384]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	92006035	92006038	Human		name
151727437	CV1241938	deletion	NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs)	Achondrogenesis, type IA [RCV001844307]	pathogenic	14	92003516	92003517	Human	1	name
151781779	CV1341930	deletion	NM_004239.4(TRIP11):c.4959_4960del (p.Asp1653fs)	Achondrogenesis, type IA [RCV001897310]	uncertain significance	14	91995448	91995449	Human		name
151797625	CV1346615	deletion	NM_004239.4(TRIP11):c.1828_1830del (p.Lys610del)	Achondrogenesis, type IA [RCV001990651]	uncertain significance	14	92006146	92006148	Human	1	name
155970341	CV1978207	deletion	NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs)	Achondrogenesis, type IA [RCV002617151]	pathogenic	14	92003465	92003468	Human	1	name
405109764	CV3058548	deletion	NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)	Achondrogenesis, type IA [RCV003615327]	pathogenic	14	92003543	92003544	Human	1	name
405101580	CV3144382	microsatellite	NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)	Achondrogenesis, type IA [RCV003852835]	pathogenic	14	92003422	92003425	Human		name
13810650	CV572972	deletion	NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs)	Achondrogenesis, type IA [RCV000702579]	pathogenic	14	92004623	92004624	Human	1	name
14393094	CV610506	microsatellite	NM_004239.4(TRIP11):c.4815_4818del (p.Glu1606fs)	Odontochondrodysplasia 1 [RCV000757986]	pathogenic	14	91999314	91999317	Human		name
14704061	CV654766	microsatellite	NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs)	Achondrogenesis, type IA [RCV000825550]	likely pathogenic	14	91999295	91999298	Human		name
126764042	CV996047	deletion	NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del)	Achondrogenesis, type IA [RCV001300940]	uncertain significance	14	92003815	92003817	Human	1	name
598236153	CV3931889	indel	NM_004239.4(TRIP11):c.2362_2364delinsTT (p.Asp788fs)	Inborn genetic diseases [RCV005295972]	pathogenic	14	92005612	92005614	Human		name
126915145	CV1048738	deletion	NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del)	Achondrogenesis, type IA [RCV001370741]	uncertain significance	14	92006037	92006042	Human	1	name
156157355	CV1875550	deletion	NM_004239.4(TRIP11):c.2444_2455del (p.Ile815_Glu818del)	Achondrogenesis, type IA [RCV003056763]	uncertain significance	14	92005521	92005532	Human	1	name
155980573	CV2157267	deletion	NM_004239.4(TRIP11):c.3641del (p.Lys1213_Leu1214insTer)	Achondrogenesis, type IA [RCV003016360]	pathogenic	14	92004335	92004335	Human	1	name
243057119	CV2408196	deletion	NM_004239.4(TRIP11):c.3342del (p.His1114_Leu1115insTer)	not provided [RCV003132961]	likely pathogenic	14	92004634	92004634	Human		name
13814003	CV568337	microsatellite	NM_004239.4(TRIP11):c.617_618del (p.Asn205_Ser206insTer)	Achondrogenesis, type IA [RCV000704735]	pathogenic	14	92017721	92017722	Human		name
402471609	CV2915241	microsatellite	NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)	Achondrogenesis, type IA [RCV003504715]	uncertain significance	14	91969863	91969864	Human		name
156067499	CV2167020	insertion	NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC	Achondrogenesis, type IA [RCV003019935]	uncertain significance	14	92015878	92015879	Human	1	name
405093739	CV3001696	insertion	NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLe ... (more) uLeu)	Achondrogenesis, type IA [RCV003613949]	pathogenic	14	92004871	92004872	Human	1	name

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