Cav1 Variant Search Result - Rat Genome Database

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173 records found for search term Cav1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
14394859	CV613430	single nucleotide variant	CAV1, GLN142TER	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV000766128]	pathogenic				Human		name
14394860	CV613431	deletion	CAV1, 2-BP DEL, 479TT	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV000766129]	pathogenic				Human		name
405272805	CV3195740	single nucleotide variant	NM_001753.4(CAV1):c.-94T>C	CAV1-related disorder [RCV003906972]	likely benign	7	116524969	116524969	Human		name , trait , alternate_id
150405374	CV1176860	deletion	NM_001753.5(CAV1):c.*341del	not provided [RCV001544833]	likely benign	7	116559615	116559615	Human		name
150493712	CV1257611	duplication	NM_001753.5(CAV1):c.*327dup	not provided [RCV001675284]	benign	7	116559612	116559613	Human		name
405271423	CV3189727	deletion	NM_001753.4(CAV1):c.-88delC	CAV1-related disorder [RCV003896776]	uncertain significance	7	116524970	116524970	Human		name , trait , alternate_id
597701613	CV3718777	single nucleotide variant	NM_001753.5(CAV1):c.30+3A>G	Congenital generalized lipodystrophy type 3 [RCV005033546]	uncertain significance	7	116525095	116525095	Human	1	name
597686622	CV3718778	single nucleotide variant	NM_001753.5(CAV1):c.31-5T>A	Congenital generalized lipodystrophy type 3 [RCV005045916]	uncertain significance	7	116526520	116526520	Human	1	name
597867015	CV3802936	single nucleotide variant	NM_001753.5(CAV1):c.31-4G>A	Pulmonary hypertension, primary, 3 [RCV005147723]	likely benign	7	116526521	116526521	Human	1	name
150466123	CV1201192	single nucleotide variant	NM_001753.5(CAV1):c.30+28C>T	not provided [RCV001587672]	likely benign	7	116525120	116525120	Human		name
150502499	CV1223233	single nucleotide variant	NM_001753.5(CAV1):c.30+87C>T	not provided [RCV001621167]	benign	7	116525179	116525179	Human		name
152033847	CV1610467	single nucleotide variant	NM_001753.5(CAV1):c.30+20C>T	Congenital generalized lipodystrophy type 3 [RCV002480957]\|Pulmonary hypertension, primary, 3 [RCV002125004]\|not provided [RCV003120821]	benign	7	116525112	116525112	Human	2	name
156101721	CV2009820	single nucleotide variant	NM_001753.5(CAV1):c.30+13G>C	Pulmonary hypertension, primary, 3 [RCV002706694]	benign	7	116525105	116525105	Human	1	name
156314121	CV2017855	single nucleotide variant	NM_001753.5(CAV1):c.196-6T>C	Pulmonary hypertension, primary, 3 [RCV002671800]	likely benign	7	116558940	116558940	Human	1	name
10409437	CV209905	duplication	NM_001753.5(CAV1):c.30+19dup	Pulmonary hypertension, primary, 3 [RCV002054284]\|not provided [RCV001812184]\|not specified [RCV000196114]	benign	7	116525104	116525105	Human	1	name
405074364	CV2882914	single nucleotide variant	NM_001753.5(CAV1):c.30+15G>C	Pulmonary hypertension, primary, 3 [RCV003581276]	likely benign	7	116525107	116525107	Human	1	name
405070961	CV2884946	single nucleotide variant	NM_001753.5(CAV1):c.30+15G>T	Pulmonary hypertension, primary, 3 [RCV003581118]	likely benign	7	116525107	116525107	Human	1	name
405069445	CV3006203	single nucleotide variant	NM_001753.5(CAV1):c.195+8A>G	Pulmonary hypertension, primary, 3 [RCV003742191]	likely benign	7	116526697	116526697	Human	1	name
405052765	CV3060046	single nucleotide variant	NM_001753.5(CAV1):c.30+13G>T	Pulmonary hypertension, primary, 3 [RCV003740756]	benign	7	116525105	116525105	Human	1	name
405055811	CV3066264	single nucleotide variant	NM_001753.5(CAV1):c.30+19G>A	Pulmonary hypertension, primary, 3 [RCV003740902]	likely benign	7	116525111	116525111	Human	1	name
405056007	CV3078168	single nucleotide variant	NM_001753.5(CAV1):c.30+13G>A	Pulmonary hypertension, primary, 3 [RCV003740913]	likely benign	7	116525105	116525105	Human	1	name
405057310	CV3080081	deletion	NM_001753.5(CAV1):c.30+19del	Pulmonary hypertension, primary, 3 [RCV003741059]	benign	7	116525105	116525105	Human	1	name
12846416	CV369178	single nucleotide variant	NM_001753.5(CAV1):c.30+14G>T	Pulmonary hypertension, primary, 3 [RCV002061632]\|not provided [RCV004712791]\|not specified [RCV000441611]	benign	7	116525106	116525106	Human	1	name
597946333	CV3755522	single nucleotide variant	NM_001753.5(CAV1):c.30+17G>A	Pulmonary hypertension, primary, 3 [RCV005078531]	likely benign	7	116525109	116525109	Human	1	name
597886181	CV3800059	single nucleotide variant	NM_001753.5(CAV1):c.30+11G>T	Pulmonary hypertension, primary, 3 [RCV005150538]	likely benign	7	116525103	116525103	Human	1	name
597959345	CV3848670	single nucleotide variant	NM_001753.5(CAV1):c.30+17G>C	Pulmonary hypertension, primary, 3 [RCV005192371]	likely benign	7	116525109	116525109	Human	1	name
15102915	CV775247	single nucleotide variant	NM_001753.5(CAV1):c.195+7C>T	Pulmonary hypertension, primary, 3 [RCV001424313]	likely benign	7	116526696	116526696	Human	1	name
41407365	CV981571	single nucleotide variant	NM_001753.5(CAV1):c.30+16G>A	Pulmonary hypertension, primary, 3 [RCV002070104]\|not provided [RCV001796422]	benign\|likely benign	7	116525108	116525108	Human	1	name
150442592	CV1264459	single nucleotide variant	NM_001753.5(CAV1):c.31-179C>T	not provided [RCV001679442]	benign	7	116526346	116526346	Human		name
150455530	CV1268947	single nucleotide variant	NM_001753.5(CAV1):c.31-505G>A	not provided [RCV001692771]	benign	7	116526020	116526020	Human		name
156205175	CV2103667	deletion	NM_001753.5(CAV1):c.31-255del	Inborn genetic diseases [RCV004966161]\|Pulmonary hypertension, primary, 3 [RCV002931836]	likely benign	7	116526270	116526270	Human	2	name
14721588	CV662532	single nucleotide variant	NM_001753.5(CAV1):c.30+214A>C	Congenital generalized lipodystrophy type 3 [RCV001554832]\|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV001554833]\|Pulmonary hypertension, primary, 3 [RCV001554834]\|not provided [RCV000831737]	benign	7	116525306	116525306	Human	3	name
14723631	CV662606	single nucleotide variant	NM_001753.5(CAV1):c.30+317T>C	not provided [RCV000832626]	benign	7	116525409	116525409	Human		name
150483611	CV1210162	single nucleotide variant	NM_001753.5(CAV1):c.196-306C>A	not provided [RCV001590861]	likely benign	7	116558640	116558640	Human		name
150535299	CV1311841	single nucleotide variant	NM_001753.5(CAV1):c.196-152A>G	not provided [RCV001779651]	likely benign	7	116558794	116558794	Human		name
14728125	CV662613	single nucleotide variant	NM_001753.5(CAV1):c.196-172A>G	not provided [RCV000834639]	benign	7	116558774	116558774	Human	7	name
14728125	CV662613	single nucleotide variant	NM_001753.5(CAV1):c.196-172A>G	not provided [RCV000834639]	benign	7	116558774	116558775	Human	7	name
150435412	CV1244406	microsatellite	NM_001753.5(CAV1):c.195+116CA[8]	not provided [RCV001665397]	likely benign	7	116526805	116526806	Human		name
405655564	CV3383101	single nucleotide variant	NM_001753.5(CAV1):c.9G>A (p.Gly3=)	Inborn genetic diseases [RCV004511103]	likely benign	7	116525071	116525071	Human	1	name
152062334	CV1629668	single nucleotide variant	NM_001753.5(CAV1):c.12C>A (p.Gly4=)	Pulmonary hypertension, primary, 3 [RCV002208841]	likely benign	7	116525074	116525074	Human	1	name
598166397	CV3950254	single nucleotide variant	NM_001753.5(CAV1):c.27G>T (p.Ser9=)	Inborn genetic diseases [RCV005307871]	likely benign	7	116525089	116525089	Human	1	name
150421622	CV1197623	deletion	NM_001753.5(CAV1):c.31-207_31-204del	not provided [RCV001578114]	likely benign	7	116526318	116526321	Human		name
150509993	CV1286328	duplication	NM_001753.5(CAV1):c.31-448_31-443dup	not provided [RCV001720856]	benign	7	116526072	116526073	Human		name
152037990	CV1525009	single nucleotide variant	NM_001753.5(CAV1):c.72C>A (p.Ile24=)	Pulmonary hypertension, primary, 3 [RCV002165261]	likely benign	7	116526566	116526566	Human	1	name
152115525	CV1537585	single nucleotide variant	NM_001753.5(CAV1):c.45C>G (p.Thr15=)	Congenital generalized lipodystrophy type 3 [RCV002494308]\|Inborn genetic diseases [RCV003307971]\|Pulmonary hypertension, primary, 3 [RCV002135047]	likely benign	7	116526539	116526539	Human	3	name
329368962	CV2423194	single nucleotide variant	NM_001753.5(CAV1):c.60A>G (p.Glu20=)	Inborn genetic diseases [RCV003171485]	likely benign	7	116526554	116526554	Human	1	name
405071735	CV3037629	single nucleotide variant	NM_001753.5(CAV1):c.57G>A (p.Arg19=)	Pulmonary hypertension, primary, 3 [RCV003742420]	likely benign	7	116526551	116526551	Human	1	name
405029318	CV3129895	single nucleotide variant	NM_001753.5(CAV1):c.45C>T (p.Thr15=)	Pulmonary hypertension, primary, 3 [RCV003830493]	likely benign	7	116526539	116526539	Human	1	name
597645649	CV3641087	single nucleotide variant	NM_001753.5(CAV1):c.93C>T (p.Ala31=)	Inborn genetic diseases [RCV004972659]	likely benign	7	116526587	116526587	Human	1	name
8659169	CV134059	single nucleotide variant	NM_001753.5(CAV1):c.156C>T (p.Val52=)	Inborn genetic diseases [RCV002399482]\|Pulmonary hypertension, primary, 3 [RCV000538635]\|not provided [RCV001811406]\|not specified [RCV000116582]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	116526650	116526650	Human	2	name
151795166	CV1434414	single nucleotide variant	NM_001753.5(CAV1):c.189G>A (p.Val63=)	Pulmonary hypertension, primary, 3 [RCV001866614]	likely benign\|uncertain significance	7	116526683	116526683	Human	1	name
152158075	CV1564327	single nucleotide variant	NM_001753.5(CAV1):c.183T>C (p.Asp61=)	Inborn genetic diseases [RCV002409578]\|Pulmonary hypertension, primary, 3 [RCV002140449]	likely benign	7	116526677	116526677	Human	2	name
155719980	CV1830662	single nucleotide variant	NM_001753.5(CAV1):c.156C>A (p.Val52=)	Inborn genetic diseases [RCV002405618]	likely benign	7	116526650	116526650	Human	1	name
155722025	CV1834666	single nucleotide variant	NM_001753.5(CAV1):c.171A>G (p.Lys57=)	Inborn genetic diseases [RCV002399016]	likely benign	7	116526665	116526665	Human	1	name
155671731	CV1842193	single nucleotide variant	NM_001753.5(CAV1):c.261C>T (p.Ala87=)	Inborn genetic diseases [RCV002437222]	likely benign	7	116559011	116559011	Human	1	name
155692790	CV1845786	single nucleotide variant	NM_001753.5(CAV1):c.25T>G (p.Ser9Ala)	Inborn genetic diseases [RCV002426241]	uncertain significance	7	116525087	116525087	Human	1	name
156048102	CV2093382	single nucleotide variant	NM_001753.5(CAV1):c.219A>G (p.Ala73=)	Pulmonary hypertension, primary, 3 [RCV002867690]	likely benign	7	116558969	116558969	Human	1	name
329372063	CV2442863	single nucleotide variant	NM_001753.5(CAV1):c.222A>G (p.Glu74=)	Inborn genetic diseases [RCV003184621]	likely benign	7	116558972	116558972	Human	1	name
401854657	CV2753417	single nucleotide variant	NM_001753.5(CAV1):c.270C>T (p.Thr90=)	Inborn genetic diseases [RCV003339017]	likely benign	7	116559020	116559020	Human	1	name
597645592	CV3641073	single nucleotide variant	NM_001753.5(CAV1):c.147C>A (p.Ile49=)	Inborn genetic diseases [RCV004972646]\|Pulmonary hypertension, primary, 3 [RCV005110083]	likely benign	7	116526641	116526641	Human	2	name
597645599	CV3641075	single nucleotide variant	NM_001753.5(CAV1):c.132G>A (p.Ala44=)	Inborn genetic diseases [RCV004972648]	likely benign	7	116526626	116526626	Human	1	name
597645615	CV3641080	single nucleotide variant	NM_001753.5(CAV1):c.288A>G (p.Lys96=)	Inborn genetic diseases [RCV004972652]	likely benign	7	116559038	116559038	Human	1	name
597645635	CV3641084	single nucleotide variant	NM_001753.5(CAV1):c.252T>C (p.Ile84=)	Inborn genetic diseases [RCV004972656]	likely benign	7	116559002	116559002	Human	1	name
597645659	CV3641090	single nucleotide variant	NM_001753.5(CAV1):c.243T>C (p.Phe81=)	Inborn genetic diseases [RCV004972661]	likely benign	7	116558993	116558993	Human	1	name
13436795	CV433389	single nucleotide variant	NM_001753.5(CAV1):c.246C>T (p.Asp82=)	Congenital generalized lipodystrophy type 3 [RCV002481635]\|Inborn genetic diseases [RCV002431465]\|Pulmonary hypertension, primary, 3 [RCV000861421]\|not provided [RCV001810987]	benign\|likely benign	7	116558996	116558996	Human	3	name
13490215	CV455981	single nucleotide variant	NM_001753.5(CAV1):c.192C>T (p.Val64=)	Inborn genetic diseases [RCV002413624]\|Pulmonary hypertension, primary, 3 [RCV000555797]	likely benign	7	116526686	116526686	Human	2	name
15129869	CV683843	single nucleotide variant	NM_001753.5(CAV1):c.129C>T (p.Asp43=)	Congenital generalized lipodystrophy type 3 [RCV002487894]\|Inborn genetic diseases [RCV003169100]\|Pulmonary hypertension, primary, 3 [RCV000863324]\|not provided [RCV004712923]	benign\|likely benign	7	116526623	116526623	Human	3	name
15149710	CV686951	single nucleotide variant	NM_001753.5(CAV1):c.258G>A (p.Lys86=)	Pulmonary hypertension, primary, 3 [RCV000866910]	likely benign	7	116559008	116559008	Human	1	name
15129648	CV692099	single nucleotide variant	NM_001753.5(CAV1):c.174C>T (p.His58=)	Inborn genetic diseases [RCV003169195]\|Pulmonary hypertension, primary, 3 [RCV002539991]	likely benign	7	116526668	116526668	Human	2	name
15188642	CV722262	single nucleotide variant	NM_001753.5(CAV1):c.285G>A (p.Thr95=)	Inborn genetic diseases [RCV003362993]\|Pulmonary hypertension, primary, 3 [RCV000887595]	likely benign	7	116559035	116559035	Human	2	name
15119905	CV765995	single nucleotide variant	NM_001753.5(CAV1):c.177C>G (p.Leu59=)	Pulmonary hypertension, primary, 3 [RCV000940259]	likely benign	7	116526671	116526671	Human	1	name
127312748	CV1138314	single nucleotide variant	NM_001753.5(CAV1):c.426G>A (p.Gln142=)	Inborn genetic diseases [RCV003339652]\|Pulmonary hypertension, primary, 3 [RCV001481752]	likely benign	7	116559176	116559176	Human	2	name
150453402	CV1203794	single nucleotide variant	NM_001753.5(CAV1):c.30G>C (p.Glu10Asp)	Pulmonary hypertension, primary, 3 [RCV001591750]	uncertain significance	7	116525092	116525092	Human	1	name
152129732	CV1549358	single nucleotide variant	NM_001753.5(CAV1):c.447C>A (p.Ser149=)	Pulmonary hypertension, primary, 3 [RCV002099319]	likely benign	7	116559197	116559197	Human	1	name
155674180	CV1786255	single nucleotide variant	NM_001753.5(CAV1):c.354C>T (p.Tyr118=)	Inborn genetic diseases [RCV002454850]\|Pulmonary hypertension, primary, 3 [RCV005096312]	likely benign	7	116559104	116559104	Human	2	name
155664484	CV1786934	single nucleotide variant	NM_001753.5(CAV1):c.387A>C (p.Ala129=)	Inborn genetic diseases [RCV002366287]	likely benign	7	116559137	116559137	Human	1	name
155704318	CV1787573	single nucleotide variant	NM_001753.5(CAV1):c.408C>T (p.Ser136=)	Inborn genetic diseases [RCV002323200]	likely benign	7	116559158	116559158	Human	1	name
155717441	CV1792272	single nucleotide variant	NM_001753.5(CAV1):c.330G>A (p.Pro110=)	Inborn genetic diseases [RCV002326296]\|Pulmonary hypertension, primary, 3 [RCV003741299]	likely benign	7	116559080	116559080	Human	2	name
155743473	CV1806801	single nucleotide variant	NM_001753.5(CAV1):c.55C>T (p.Arg19Trp)	Inborn genetic diseases [RCV002344882]	uncertain significance	7	116526549	116526549	Human	1	name
155687115	CV1807368	single nucleotide variant	NM_001753.5(CAV1):c.58G>A (p.Glu20Lys)	Inborn genetic diseases [RCV002355694]	uncertain significance	7	116526552	116526552	Human	1	name
155946264	CV2077008	single nucleotide variant	NM_001753.5(CAV1):c.318C>T (p.Leu106=)	Pulmonary hypertension, primary, 3 [RCV002880235]	likely benign	7	116559068	116559068	Human	1	name
329372095	CV2442854	single nucleotide variant	NM_001753.5(CAV1):c.525G>A (p.Gln175=)	Inborn genetic diseases [RCV003184613]\|Pulmonary hypertension, primary, 3 [RCV003581900]	likely benign	7	116559275	116559275	Human	2	name
401798075	CV2739201	single nucleotide variant	NM_001753.5(CAV1):c.61C>T (p.Gln21Ter)	not provided [RCV003318849]	uncertain significance	7	116526555	116526555	Human		name
597645603	CV3641076	single nucleotide variant	NM_001753.5(CAV1):c.459C>T (p.His153=)	Inborn genetic diseases [RCV004972649]	likely benign	7	116559209	116559209	Human	1	name
597645620	CV3641081	single nucleotide variant	NM_001753.5(CAV1):c.303C>T (p.Arg101=)	Inborn genetic diseases [RCV004972653]	likely benign	7	116559053	116559053	Human	1	name
597645625	CV3641082	single nucleotide variant	NM_001753.5(CAV1):c.483A>G (p.Glu161=)	Inborn genetic diseases [RCV004972654]	likely benign	7	116559233	116559233	Human	1	name
597645630	CV3641083	single nucleotide variant	NM_001753.5(CAV1):c.492G>C (p.Gly164=)	Inborn genetic diseases [RCV004972655]	likely benign	7	116559242	116559242	Human	1	name
597645639	CV3641085	single nucleotide variant	NM_001753.5(CAV1):c.477C>G (p.Leu159=)	Inborn genetic diseases [RCV004972657]	likely benign	7	116559227	116559227	Human	1	name
597645643	CV3641086	single nucleotide variant	NM_001753.5(CAV1):c.474A>G (p.Pro158=)	Inborn genetic diseases [RCV004972658]	likely benign	7	116559224	116559224	Human	1	name
597701623	CV3718779	single nucleotide variant	NM_001753.5(CAV1):c.87C>A (p.Asn29Lys)	Congenital generalized lipodystrophy type 3 [RCV005033547]	uncertain significance	7	116526581	116526581	Human	1	name
597701637	CV3718780	single nucleotide variant	NM_001753.5(CAV1):c.96G>A (p.Met32Ile)	Congenital generalized lipodystrophy type 3 [RCV005033548]	uncertain significance	7	116526590	116526590	Human	1	name
12848559	CV380226	single nucleotide variant	NM_001753.5(CAV1):c.43A>G (p.Thr15Ala)	Monogenic diabetes [RCV000445432]	uncertain significance	7	116526537	116526537	Human	1	name
598166387	CV3950252	single nucleotide variant	NM_001753.5(CAV1):c.50C>G (p.Pro17Arg)	Inborn genetic diseases [RCV005307869]	uncertain significance	7	116526544	116526544	Human	1	name
598166393	CV3950253	single nucleotide variant	NM_001753.5(CAV1):c.31G>A (p.Gly11Arg)	Inborn genetic diseases [RCV005307870]	uncertain significance	7	116526525	116526525	Human	1	name
14394068	CV609644	single nucleotide variant	NM_001753.5(CAV1):c.54C>G (p.Ile18Met)	Amyotrophic lateral sclerosis [RCV005357983]\|Inborn genetic diseases [RCV002536563]\|not provided [RCV000757056]	likely benign\|uncertain significance	7	116526548	116526548	Human	3	name
15130421	CV683844	single nucleotide variant	NM_001753.5(CAV1):c.453C>T (p.Tyr151=)	Inborn genetic diseases [RCV002336763]\|Pulmonary hypertension, primary, 3 [RCV005092551]	likely benign	7	116559203	116559203	Human	2	name
15124545	CV683846	single nucleotide variant	NM_001753.5(CAV1):c.507T>C (p.Asn169=)	Inborn genetic diseases [RCV003169096]\|Pulmonary hypertension, primary, 3 [RCV000862435]	likely benign	7	116559257	116559257	Human	2	name
15148837	CV686952	single nucleotide variant	NM_001753.5(CAV1):c.348C>T (p.Gly116=)	Inborn genetic diseases [RCV002453971]\|Pulmonary hypertension, primary, 3 [RCV000866740]	benign\|likely benign	7	116559098	116559098	Human	2	name
15100653	CV686953	single nucleotide variant	NM_001753.5(CAV1):c.357C>T (p.Phe119=)	Congenital generalized lipodystrophy type 3 [RCV002507511]\|Inborn genetic diseases [RCV002454002]\|Pulmonary hypertension, primary, 3 [RCV000870100]\|not provided [RCV001528756]	likely benign	7	116559107	116559107	Human	3	name
15146909	CV782734	single nucleotide variant	NM_001753.5(CAV1):c.28G>T (p.Glu10Ter)	Inborn genetic diseases [RCV002549621]\|Pulmonary hypertension, primary, 3 [RCV001079074]\|not provided [RCV000983970]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	116525090	116525090	Human	2	name
155722019	CV1834665	single nucleotide variant	NM_001753.5(CAV1):c.171A>C (p.Lys57Asn)	Inborn genetic diseases [RCV002399015]	uncertain significance	7	116526665	116526665	Human	1	name
155672038	CV1849012	single nucleotide variant	NM_001753.5(CAV1):c.110G>A (p.Ser37Asn)	Inborn genetic diseases [RCV002437358]	likely benign	7	116526604	116526604	Human	1	name
155796811	CV1860914	single nucleotide variant	NM_001753.5(CAV1):c.236A>G (p.His79Arg)	Congenital generalized lipodystrophy type 3 [RCV005042849]\|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV002468514]	uncertain significance	7	116558986	116558986	Human	2	name
156121534	CV1933354	single nucleotide variant	NM_001753.5(CAV1):c.211G>A (p.Val71Met)	Pulmonary hypertension, primary, 3 [RCV002640338]	uncertain significance	7	116558961	116558961	Human	1	name
10054578	CV200718	deletion	NM_001753.5(CAV1):c.400del (p.Ile134fs)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV000186515]	pathogenic\|likely pathogenic	7	116559150	116559150	Human	1	name
156184594	CV2222519	single nucleotide variant	NM_001753.5(CAV1):c.179A>G (p.Asn60Ser)	Inborn genetic diseases [RCV002742485]	uncertain significance	7	116526673	116526673	Human	1	name
8560507	CV23506	single nucleotide variant	NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)	Congenital generalized lipodystrophy type 3 [RCV000008988]\|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV002247278]	pathogenic	7	116526606	116526606	Human	2	name
401857187	CV2752126	single nucleotide variant	NM_001753.5(CAV1):c.257A>G (p.Lys86Arg)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV003336003]\|not provided [RCV004820294]	uncertain significance	7	116559007	116559007	Human	1	name
401858818	CV2753418	single nucleotide variant	NM_001753.5(CAV1):c.191T>G (p.Val64Gly)	Inborn genetic diseases [RCV003341656]	uncertain significance	7	116526685	116526685	Human	1	name
401869735	CV2772503	single nucleotide variant	NM_001753.5(CAV1):c.263G>A (p.Ser88Asn)	Inborn genetic diseases [RCV003345900]	uncertain significance	7	116559013	116559013	Human	1	name
401923498	CV2803306	duplication	NM_001753.5(CAV1):c.396dup (p.Cys133fs)	CAV1-related disorder [RCV003404452]	likely pathogenic	7	116559145	116559146	Human		name , trait , alternate_id
405256822	CV2831232	single nucleotide variant	NM_001753.5(CAV1):c.284C>T (p.Thr95Met)	CAV1-related disorder [RCV003966445]\|Congenital generalized lipodystrophy type 3 [RCV005036806]\|Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 [RCV003885336]	uncertain significance	7	116559034	116559034	Human	4	name , trait , alternate_id
405055543	CV3079544	single nucleotide variant	NM_001753.5(CAV1):c.229G>A (p.Gly77Arg)	Pulmonary hypertension, primary, 3 [RCV003741018]	uncertain significance	7	116558979	116558979	Human	1	name
405704715	CV3225136	deletion	NM_001753.5(CAV1):c.436del (p.Arg146fs)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV003990092]	likely pathogenic	7	116559185	116559185	Human	1	name
405655555	CV3383097	single nucleotide variant	NM_001753.5(CAV1):c.187G>T (p.Val63Leu)	Inborn genetic diseases [RCV004511099]	uncertain significance	7	116526681	116526681	Human	1	name
407482227	CV3421909	single nucleotide variant	NM_001753.5(CAV1):c.172C>T (p.His58Tyr)	Congenital generalized lipodystrophy type 3 [RCV005038739]\|Inborn genetic diseases [RCV004602616]	uncertain significance	7	116526666	116526666	Human	2	name
597645595	CV3641074	single nucleotide variant	NM_001753.5(CAV1):c.209A>G (p.Asp70Gly)	Inborn genetic diseases [RCV004972647]	uncertain significance	7	116558959	116558959	Human	1	name
597645607	CV3641078	single nucleotide variant	NM_001753.5(CAV1):c.235C>A (p.His79Asn)	Inborn genetic diseases [RCV004972650]	uncertain significance	7	116558985	116558985	Human	1	name
597645612	CV3641079	single nucleotide variant	NM_001753.5(CAV1):c.106C>A (p.Leu36Met)	Inborn genetic diseases [RCV004972651]	likely benign	7	116526600	116526600	Human	1	name
597645653	CV3641089	single nucleotide variant	NM_001753.5(CAV1):c.102C>G (p.Asp34Glu)	Inborn genetic diseases [RCV004972660]	likely benign	7	116526596	116526596	Human	1	name
597686631	CV3718781	single nucleotide variant	NM_001753.5(CAV1):c.194A>G (p.Lys65Arg)	Congenital generalized lipodystrophy type 3 [RCV005045917]	uncertain significance	7	116526688	116526688	Human	1	name
597701644	CV3718782	single nucleotide variant	NM_001753.5(CAV1):c.247G>A (p.Gly83Ser)	Congenital generalized lipodystrophy type 3 [RCV005033549]	uncertain significance	7	116558997	116558997	Human	1	name
598226802	CV3950248	single nucleotide variant	NM_001753.5(CAV1):c.180C>A (p.Asn60Lys)	Inborn genetic diseases [RCV005318811]	uncertain significance	7	116526674	116526674	Human	1	name
598166375	CV3950249	single nucleotide variant	NM_001753.5(CAV1):c.200A>T (p.Asp67Val)	Inborn genetic diseases [RCV005307866]	uncertain significance	7	116558950	116558950	Human	1	name
598166385	CV3950251	single nucleotide variant	NM_001753.5(CAV1):c.158A>G (p.Asn53Ser)	Inborn genetic diseases [RCV005307868]	uncertain significance	7	116526652	116526652	Human	1	name
13704064	CV539173	single nucleotide variant	NM_001753.5(CAV1):c.238A>G (p.Ser80Gly)	Pulmonary arterial hypertension associated with congenital heart disease [RCV000664172]\|Pulmonary hypertension, primary, 3 [RCV005091914]	uncertain significance	7	116558988	116558988	Human	2	name
8617546	CV71562	deletion	NM_001753.5(CAV1):c.474del (p.Leu159fs)	Pulmonary hypertension, primary, 3 [RCV000050248]	pathogenic	7	116559224	116559224	Human	1	name
8572559	CV71563	deletion	NM_001753.5(CAV1):c.473del (p.Pro158fs)	Pulmonary hypertension, primary, 3 [RCV000050249]	pathogenic	7	116559221	116559221	Human	1	name
38474014	CV924580	single nucleotide variant	NM_001753.5(CAV1):c.202T>G (p.Phe68Val)	Congenital generalized lipodystrophy type 3 [RCV002484171]\|Inborn genetic diseases [RCV002418738]\|Pulmonary hypertension, primary, 3 [RCV001214561]	uncertain significance	7	116558952	116558952	Human	3	name
126914400	CV1037753	single nucleotide variant	NM_001753.5(CAV1):c.329C>T (p.Pro110Leu)	not provided [RCV001358225]	uncertain significance	7	116559079	116559079	Human		name
150547166	CV1291910	single nucleotide variant	NM_001753.5(CAV1):c.407G>A (p.Ser136Asn)	Pulmonary hypertension, primary, 3 [RCV001733578]	uncertain significance	7	116559157	116559157	Human	1	name
151832329	CV1370285	single nucleotide variant	NM_001753.5(CAV1):c.302G>A (p.Arg101His)	Congenital generalized lipodystrophy type 3 [RCV002497915]\|Pulmonary hypertension, primary, 3 [RCV001993831]	uncertain significance	7	116559052	116559052	Human	2	name
152152903	CV1623306	single nucleotide variant	NM_001753.5(CAV1):c.437G>C (p.Arg146Pro)	Congenital generalized lipodystrophy type 3 [RCV002498247]\|Pulmonary hypertension, primary, 3 [RCV002221091]	likely benign	7	116559187	116559187	Human	2	name
152037492	CV1669127	single nucleotide variant	NM_001753.5(CAV1):c.345G>C (p.Trp115Cys)	not provided [RCV002224179]	uncertain significance	7	116559095	116559095	Human		name
152034326	CV1669493	single nucleotide variant	NM_001753.5(CAV1):c.394C>G (p.Pro132Ala)	Congenital generalized lipodystrophy type 3 [RCV002496161]\|not provided [RCV002223484]	uncertain significance	7	116559144	116559144	Human	1	name
155741903	CV1791179	single nucleotide variant	NM_001753.5(CAV1):c.437G>A (p.Arg146His)	Inborn genetic diseases [RCV002333565]	uncertain significance	7	116559187	116559187	Human	1	name
155681715	CV1795626	single nucleotide variant	NM_001753.5(CAV1):c.341T>C (p.Ile114Thr)	Inborn genetic diseases [RCV002456930]	uncertain significance	7	116559091	116559091	Human	1	name
155727570	CV1798106	single nucleotide variant	NM_001753.5(CAV1):c.443A>G (p.Tyr148Cys)	Inborn genetic diseases [RCV002328256]	uncertain significance	7	116559193	116559193	Human	1	name
155707546	CV1798678	single nucleotide variant	NM_001753.5(CAV1):c.468T>G (p.Cys156Trp)	Inborn genetic diseases [RCV002335252]	uncertain significance	7	116559218	116559218	Human	1	name
155718584	CV1808962	single nucleotide variant	NM_001753.5(CAV1):c.475C>G (p.Leu159Val)	Inborn genetic diseases [RCV002337659]	uncertain significance	7	116559225	116559225	Human	1	name
10406276	CV205702	single nucleotide variant	NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)	Congenital generalized lipodystrophy type 3 [RCV000191043]\|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV000766128]	pathogenic	7	116559174	116559174	Human	2	name
156020812	CV2226582	single nucleotide variant	NM_001753.5(CAV1):c.403A>G (p.Lys135Glu)	Inborn genetic diseases [RCV002757290]	uncertain significance	7	116559153	116559153	Human	1	name
329847296	CV2534464	single nucleotide variant	NM_001753.5(CAV1):c.326T>A (p.Ile109Asn)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV003228673]	uncertain significance	7	116559076	116559076	Human	1	name
401899144	CV2783696	single nucleotide variant	NM_001753.5(CAV1):c.520T>G (p.Leu174Val)	Inborn genetic diseases [RCV003377329]	uncertain significance	7	116559270	116559270	Human	1	name
405052508	CV3049566	single nucleotide variant	NM_001753.5(CAV1):c.352T>C (p.Tyr118His)	Pulmonary hypertension, primary, 3 [RCV003740736]	uncertain significance	7	116559102	116559102	Human	1	name
405052386	CV3056180	single nucleotide variant	NM_001753.5(CAV1):c.358G>A (p.Ala120Thr)	Congenital generalized lipodystrophy type 3 [RCV005036990]\|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV004558220]\|Pulmonary hypertension, primary, 3 [RCV003740726]	likely benign\|uncertain significance	7	116559108	116559108	Human	3	name
405708913	CV3225513	single nucleotide variant	NM_001753.5(CAV1):c.535T>C (p.Ter179Gln)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV003990569]	uncertain significance	7	116559285	116559285	Human	1	name
405737341	CV3291900	single nucleotide variant	NM_001753.5(CAV1):c.418G>A (p.Glu140Lys)	Inborn genetic diseases [RCV004430164]	uncertain significance	7	116559168	116559168	Human	1	name
405655559	CV3383099	single nucleotide variant	NM_001753.5(CAV1):c.502A>G (p.Ser168Gly)	Inborn genetic diseases [RCV004511101]	uncertain significance	7	116559252	116559252	Human	1	name
405655561	CV3383100	single nucleotide variant	NM_001753.5(CAV1):c.525G>C (p.Gln175His)	Inborn genetic diseases [RCV004511102]	uncertain significance	7	116559275	116559275	Human	1	name
597645665	CV3641091	single nucleotide variant	NM_001753.5(CAV1):c.508G>A (p.Val170Ile)	Inborn genetic diseases [RCV004972662]	likely benign	7	116559258	116559258	Human	1	name
597645668	CV3641092	single nucleotide variant	NM_001753.5(CAV1):c.520T>A (p.Leu174Met)	Inborn genetic diseases [RCV004972663]	likely benign	7	116559270	116559270	Human	1	name
597645673	CV3641093	single nucleotide variant	NM_001753.5(CAV1):c.521T>C (p.Leu174Ser)	Inborn genetic diseases [RCV004972664]	uncertain significance	7	116559271	116559271	Human	1	name
597703232	CV3718783	single nucleotide variant	NM_001753.5(CAV1):c.301C>T (p.Arg101Cys)	Congenital generalized lipodystrophy type 3 [RCV005047821]	uncertain significance	7	116559051	116559051	Human	1	name
597701651	CV3718784	single nucleotide variant	NM_001753.5(CAV1):c.323G>A (p.Gly108Asp)	Congenital generalized lipodystrophy type 3 [RCV005033550]	uncertain significance	7	116559073	116559073	Human	1	name
597703210	CV3718786	single nucleotide variant	NM_001753.5(CAV1):c.413T>C (p.Leu138Pro)	Congenital generalized lipodystrophy type 3 [RCV005047823]	uncertain significance	7	116559163	116559163	Human	1	name
597703197	CV3718787	single nucleotide variant	NM_001753.5(CAV1):c.436C>T (p.Arg146Cys)	Congenital generalized lipodystrophy type 3 [RCV005047824]	uncertain significance	7	116559186	116559186	Human	1	name
597702927	CV3718788	single nucleotide variant	NM_001753.5(CAV1):c.454G>A (p.Val152Ile)	Congenital generalized lipodystrophy type 3 [RCV005033551]	uncertain significance	7	116559204	116559204	Human	1	name
597702916	CV3718789	single nucleotide variant	NM_001753.5(CAV1):c.460A>T (p.Thr154Ser)	Congenital generalized lipodystrophy type 3 [RCV005033552]	uncertain significance	7	116559210	116559210	Human	1	name
597703184	CV3718790	single nucleotide variant	NM_001753.5(CAV1):c.461C>T (p.Thr154Ile)	Congenital generalized lipodystrophy type 3 [RCV005047825]	uncertain significance	7	116559211	116559211	Human	1	name
597702906	CV3718791	single nucleotide variant	NM_001753.5(CAV1):c.487G>C (p.Val163Leu)	Congenital generalized lipodystrophy type 3 [RCV005033553]	uncertain significance	7	116559237	116559237	Human	1	name
597702897	CV3718792	single nucleotide variant	NM_001753.5(CAV1):c.511C>T (p.Arg171Cys)	Congenital generalized lipodystrophy type 3 [RCV005033554]	uncertain significance	7	116559261	116559261	Human	1	name
598166379	CV3950250	single nucleotide variant	NM_001753.5(CAV1):c.333G>T (p.Met111Ile)	Inborn genetic diseases [RCV005307867]	uncertain significance	7	116559083	116559083	Human	1	name
13623846	CV522709	single nucleotide variant	NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)	Congenital generalized lipodystrophy type 3 [RCV005046835]\|Monogenic diabetes [RCV001174403]\|Pulmonary hypertension, primary, 3 [RCV000651583]\|not provided [RCV004588078]	likely benign\|uncertain significance	7	116559250	116559250	Human	3	name
13807128	CV561181	single nucleotide variant	NM_001753.5(CAV1):c.448A>G (p.Ile150Val)	Inborn genetic diseases [RCV002544754]\|Pulmonary hypertension, primary, 3 [RCV000686545]	likely benign\|uncertain significance	7	116559198	116559198	Human	2	name
14701411	CV635450	single nucleotide variant	NM_001753.5(CAV1):c.512G>A (p.Arg171His)	Congenital generalized lipodystrophy type 3 [RCV002501084]\|Pulmonary hypertension, primary, 3 [RCV000806259]	uncertain significance	7	116559262	116559262	Human	2	name
15118061	CV683845	single nucleotide variant	NM_001753.5(CAV1):c.463G>A (p.Val155Ile)	CAV1-related disorder [RCV003948051]\|Inborn genetic diseases [RCV004029294]\|Pulmonary hypertension, primary, 3 [RCV000861241]\|not provided [RCV001811511]	likely benign\|conflicting interpretations of pathogenicity	7	116559213	116559213	Human	2	name , trait , alternate_id
15158928	CV686954	single nucleotide variant	NM_001753.5(CAV1):c.533T>A (p.Ile178Lys)	CAV1-related disorder [RCV003908247]\|Inborn genetic diseases [RCV005306189]\|Pulmonary hypertension, primary, 3 [RCV000868732]	likely benign	7	116559283	116559283	Human	2	name , trait , alternate_id
243050745	CV2417482	microsatellite	NM_001753.5(CAV1):c.237_238del (p.His79fs)	Congenital generalized lipodystrophy type 3 [RCV003152354]	pathogenic	7	116558982	116558983	Human		name
152982698	CV1677618	microsatellite	NM_001753.5(CAV1):c.368_369del (p.Ser123fs)	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV002249329]	pathogenic	7	116559113	116559114	Human		name
151730172	CV1515937	insertion	NM_001753.5(CAV1):c.446_447insT (p.Ile150fs)	Pulmonary hypertension, primary, 3 [RCV001984115]	likely pathogenic\|uncertain significance	7	116559196	116559197	Human	1	name
8659168	CV134058	indel	NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)	Pulmonary hypertension, primary, 3 [RCV000116581]	pathogenic	7	116559151	116559152	Human		name
10401488	CV205252	deletion	NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	Congenital generalized lipodystrophy type 3 [RCV000191044]\|Inborn genetic diseases [RCV000190679]\|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome [RCV000766129]	pathogenic	7	116559228	116559229	Human	3	name

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