Pde11a Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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202 records found for search term Pde11a

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8558592	CV20326	deletion	PDE11A, 1-BP DEL, 171T	Pigmented nodular adrenocortical disease, primary, 2 [RCV000005605]	pathogenic\|uncertain significance				Human		name
401942541	CV2839642	single nucleotide variant	NM_016953.4(PDE11A):c.912+2T>A	not provided [RCV003456590]	uncertain significance	2	178071524	178071524	Human		name
151233723	CV1317501	single nucleotide variant	NM_016953.4(PDE11A):c.1577-3T>C	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788880]\|not provided [RCV004709161]	benign	2	177817928	177817928	Human	1	name
405280422	CV3200748	single nucleotide variant	NM_016953.4(PDE11A):c.1072-3C>T	PDE11A-related disorder [RCV003977373]	benign	2	177905190	177905190	Human		name , trait , alternate_id
12893360	CV405427	single nucleotide variant	NM_016953.4(PDE11A):c.1936-2A>T	not provided [RCV000478741]	likely pathogenic	2	177727767	177727767	Human		name
13489419	CV443062	single nucleotide variant	NM_016953.4(PDE11A):c.2153+1G>A	not provided [RCV000523883]	uncertain significance	2	177711768	177711768	Human		name
13478761	CV443064	single nucleotide variant	NM_016953.4(PDE11A):c.1072-2A>G	not provided [RCV000520765]	uncertain significance	2	177905189	177905189	Human		name
15186925	CV743844	single nucleotide variant	NM_016953.4(PDE11A):c.1577-4A>G	not provided [RCV000908945]	benign	2	177817929	177817929	Human		name
15161022	CV743852	single nucleotide variant	NM_016953.4(PDE11A):c.1161+9A>G	not provided [RCV000903264]	likely benign	2	177905089	177905089	Human		name
15189832	CV743856	single nucleotide variant	NM_016953.4(PDE11A):c.2043+7G>A	not provided [RCV000909769]	benign	2	177727651	177727651	Human		name
15183517	CV774610	single nucleotide variant	NM_016953.4(PDE11A):c.1303-6C>T	not provided [RCV000930607]	likely benign	2	177875929	177875929	Human		name
15141336	CV787074	single nucleotide variant	NM_016953.4(PDE11A):c.2424-1G>C	not provided [RCV000982962]	likely benign	2	177675519	177675519	Human		name
151233718	CV1317496	single nucleotide variant	NM_016953.4(PDE11A):c.2563-26G>A	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788875]\|not provided [RCV004709156]	benign	2	177663975	177663975	Human	1	name
151233719	CV1317497	single nucleotide variant	NM_016953.4(PDE11A):c.2488-29T>C	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788876]\|not provided [RCV004709157]	benign	2	177669596	177669596	Human	1	name
151233720	CV1317498	single nucleotide variant	NM_016953.4(PDE11A):c.2424-47T>C	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788877]\|not provided [RCV004709158]	benign	2	177675565	177675565	Human	1	name
151233721	CV1317499	single nucleotide variant	NM_016953.4(PDE11A):c.1737+22G>A	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788878]\|not provided [RCV004709159]	benign	2	177816807	177816807	Human	1	name
151233724	CV1317502	single nucleotide variant	NM_016953.4(PDE11A):c.1576+26C>T	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788881]\|not provided [RCV004709162]	benign	2	177820194	177820194	Human	1	name
405292825	CV3217557	single nucleotide variant	NM_016953.4(PDE11A):c.1738-10T>G	PDE11A-related disorder [RCV003964767]\|Pigmented nodular adrenocortical disease, primary, 2 [RCV003992823]	likely benign	2	177769383	177769383	Human	1	name , trait , alternate_id
405691393	CV3227531	single nucleotide variant	NM_016953.4(PDE11A):c.2245-14C>T	Pigmented nodular adrenocortical disease, primary, 2 [RCV003991876]	likely benign	2	177697446	177697446	Human	1	name
408381362	CV3522748	single nucleotide variant	NM_001077197.2(PDE11A):c.-14+4A>G	not provided [RCV004769129]	uncertain significance	2	178108250	178108250	Human		name
8576799	CV111167	single nucleotide variant	NM_001077197.1(PDE11A):c.553-7469A>T	Lung cancer [RCV000091690]	uncertain significance	2	177883392	177883392	Human		name
598165941	CV4006189	single nucleotide variant	NM_016953.4(PDE11A):c.8C>T (p.Ala3Val)	not specified [RCV005391410]	uncertain significance	2	178072430	178072430	Human		name
15183261	CV732972	single nucleotide variant	NM_016953.4(PDE11A):c.60G>A (p.Glu20=)	not provided [RCV000908021]	likely benign	2	178072378	178072378	Human		name
401774884	CV2688321	single nucleotide variant	NM_016953.4(PDE11A):c.13C>T (p.Arg5Cys)	not specified [RCV004299327]	uncertain significance	2	178072425	178072425	Human		name
15165284	CV707870	single nucleotide variant	NM_016953.4(PDE11A):c.147A>G (p.Leu49=)	not provided [RCV000970916]	benign	2	178072291	178072291	Human		name
150498746	CV1235617	single nucleotide variant	NM_016953.4(PDE11A):c.792A>C (p.Thr264=)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788677]\|not provided [RCV001656300]	benign	2	178071646	178071646	Human	1	name
10401432	CV205134	deletion	NM_016953.4(PDE11A):c.171del (p.Thr58fs)	Bardet-Biedl syndrome 16 [RCV001258305]\|PDE11A-related disorder [RCV003937676]\|Pigmented nodular adrenocortical disease, primary, 2 [RCV000190613]\|not provided [RCV000903265]\|not specified [RCV000485692]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	178072267	178072267	Human	2	name , trait , alternate_id
405275575	CV3204841	single nucleotide variant	NM_016953.4(PDE11A):c.588G>T (p.Leu196=)	PDE11A-related disorder [RCV003952211]	likely benign	2	178071850	178071850	Human		name , trait , alternate_id
405775488	CV3375151	single nucleotide variant	NM_016953.4(PDE11A):c.41T>C (p.Phe14Ser)	not specified [RCV004503027]	uncertain significance	2	178072397	178072397	Human		name
598165908	CV4006183	single nucleotide variant	NM_016953.4(PDE11A):c.96G>T (p.Gln32His)	not specified [RCV005391404]	uncertain significance	2	178072342	178072342	Human		name
13489918	CV443065	deletion	NM_016953.4(PDE11A):c.137del (p.Gln46fs)	PDE11A-related disorder [RCV003409752]\|Pigmented nodular adrenocortical disease, primary, 2 [RCV005356057]\|not provided [RCV000524043]	likely pathogenic\|uncertain significance	2	178072301	178072301	Human	1	name , trait , alternate_id
15184940	CV719433	single nucleotide variant	NM_016953.4(PDE11A):c.799C>T (p.Leu267=)	PDE11A-related disorder [RCV003930672]\|not provided [RCV000886561]	benign	2	178071639	178071639	Human	1	name , trait , alternate_id
15152430	CV719434	single nucleotide variant	NM_016953.4(PDE11A):c.657C>T (p.Thr219=)	not provided [RCV000879805]	benign	2	178071781	178071781	Human		name
15147817	CV746974	single nucleotide variant	NM_016953.4(PDE11A):c.870C>T (p.Val290=)	PDE11A-related disorder [RCV003978045]\|not provided [RCV000922982]	likely benign	2	178071568	178071568	Human	1	name , trait , alternate_id
15123264	CV746975	single nucleotide variant	NM_016953.4(PDE11A):c.711C>T (p.Arg237=)	not provided [RCV000918789]	likely benign	2	178071727	178071727	Human		name
15201756	CV746976	single nucleotide variant	NM_016953.4(PDE11A):c.480G>A (p.Lys160=)	not provided [RCV000913233]	likely benign	2	178071958	178071958	Human		name
15143763	CV746977	single nucleotide variant	NM_016953.4(PDE11A):c.363A>G (p.Leu121=)	not provided [RCV000922247]	likely benign	2	178072075	178072075	Human		name
15115826	CV762442	single nucleotide variant	NM_016953.4(PDE11A):c.622T>C (p.Leu208=)	not provided [RCV000939558]	likely benign	2	178071816	178071816	Human		name
151233722	CV1317500	single nucleotide variant	NM_016953.4(PDE11A):c.1626A>G (p.Ala542=)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788879]\|not provided [RCV004709160]	benign	2	177817876	177817876	Human	1	name
155967370	CV2280374	single nucleotide variant	NM_016953.4(PDE11A):c.232C>T (p.Pro78Ser)	not specified [RCV004140560]	uncertain significance	2	178072206	178072206	Human		name
156048208	CV2315752	single nucleotide variant	NM_016953.4(PDE11A):c.142G>C (p.Ala48Pro)	not specified [RCV004169760]	uncertain significance	2	178072296	178072296	Human		name
401744575	CV2688191	single nucleotide variant	NM_016953.4(PDE11A):c.106G>A (p.Glu36Lys)	not specified [RCV004305231]	uncertain significance	2	178072332	178072332	Human		name
401766845	CV2721348	single nucleotide variant	NM_016953.4(PDE11A):c.132G>C (p.Gln44His)	not specified [RCV004322102]	uncertain significance	2	178072306	178072306	Human		name
401917159	CV2819247	single nucleotide variant	NM_016953.4(PDE11A):c.1353T>C (p.Ala451=)	not provided [RCV003429386]	likely benign	2	177875873	177875873	Human		name
401925026	CV2819248	single nucleotide variant	NM_016953.4(PDE11A):c.1170A>G (p.Leu390=)	not provided [RCV003436265]	likely benign	2	177898190	177898190	Human		name
405290553	CV3200935	single nucleotide variant	NM_016953.4(PDE11A):c.1263A>G (p.Glu421=)	PDE11A-related disorder [RCV003984599]	benign	2	177898097	177898097	Human		name , trait , alternate_id
405287370	CV3217308	single nucleotide variant	NM_016953.4(PDE11A):c.1716C>G (p.Ala572=)	PDE11A-related disorder [RCV003981841]	likely benign	2	177816850	177816850	Human		name , trait , alternate_id
405271048	CV3218866	single nucleotide variant	NM_016953.4(PDE11A):c.2208C>T (p.His736=)	PDE11A-related disorder [RCV003971614]	likely benign	2	177701157	177701157	Human		name , trait , alternate_id
407573406	CV3499152	deletion	NM_016953.4(PDE11A):c.466del (p.Ala156fs)	not specified [RCV004700124]	uncertain significance	2	178071972	178071972	Human		name
408383905	CV3506079	single nucleotide variant	NM_016953.4(PDE11A):c.114G>A (p.Trp38Ter)	PDE11A-related disorder [RCV004731387]	uncertain significance	2	178072324	178072324	Human		name , trait , alternate_id
408366155	CV3516190	deletion	NM_016953.4(PDE11A):c.517del (p.Ser173fs)	PDE11A-related disorder [RCV004755641]	uncertain significance	2	178071921	178071921	Human		name , trait , alternate_id
597756745	CV3568722	single nucleotide variant	NM_016953.4(PDE11A):c.238G>A (p.Gly80Ser)	not specified [RCV004848185]	uncertain significance	2	178072200	178072200	Human		name
597698756	CV3568723	single nucleotide variant	NM_016953.4(PDE11A):c.269G>T (p.Gly90Val)	not specified [RCV004839502]	uncertain significance	2	178072169	178072169	Human		name
597698804	CV3568731	single nucleotide variant	NM_016953.4(PDE11A):c.281G>A (p.Gly94Asp)	not specified [RCV004839508]	uncertain significance	2	178072157	178072157	Human		name
12838141	CV366215	single nucleotide variant	NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr)	not provided [RCV000426419]	conflicting interpretations of pathogenicity\|uncertain significance	2	178072283	178072283	Human		name
15161398	CV707866	single nucleotide variant	NM_016953.4(PDE11A):c.2388C>T (p.Tyr796=)	PDE11A-related disorder [RCV003962866]\|not provided [RCV000970082]	benign	2	177680861	177680861	Human	1	name , trait , alternate_id
15137448	CV707867	single nucleotide variant	NM_016953.4(PDE11A):c.2145C>T (p.Phe715=)	not provided [RCV000965621]	benign	2	177711777	177711777	Human		name
15165277	CV707868	single nucleotide variant	NM_016953.4(PDE11A):c.1854C>T (p.Leu618=)	PDE11A-related disorder [RCV003906002]\|not provided [RCV000970915]	benign	2	177728107	177728107	Human	1	name , trait , alternate_id
15158755	CV719431	single nucleotide variant	NM_016953.4(PDE11A):c.2334G>A (p.Thr778=)	PDE11A-related disorder [RCV003948310]\|not provided [RCV000881068]	benign\|likely benign	2	177697343	177697343	Human	1	name , trait , alternate_id
15156133	CV719432	single nucleotide variant	NM_016953.4(PDE11A):c.1977G>T (p.Arg659=)	not provided [RCV000880562]	benign	2	177727724	177727724	Human		name
15146615	CV732966	single nucleotide variant	NM_016953.4(PDE11A):c.2266C>T (p.Leu756=)	not provided [RCV000900357]	likely benign	2	177697411	177697411	Human		name
15142287	CV732967	single nucleotide variant	NM_016953.4(PDE11A):c.1743A>G (p.Leu581=)	not provided [RCV000899648]	benign	2	177769368	177769368	Human		name
15183783	CV732970	single nucleotide variant	NM_016953.4(PDE11A):c.1485G>A (p.Pro495=)	PDE11A-related disorder [RCV003950689]\|not provided [RCV000908133]	benign\|likely benign	2	177840266	177840266	Human	1	name , trait , alternate_id
15147379	CV732971	single nucleotide variant	NM_016953.4(PDE11A):c.229G>A (p.Gly77Arg)	PDE11A-related disorder [RCV003968244]\|not provided [RCV000900506]	likely benign\|conflicting interpretations of pathogenicity	2	178072209	178072209	Human	1	name , trait , alternate_id
15166328	CV746970	single nucleotide variant	NM_016953.4(PDE11A):c.2469G>A (p.Pro823=)	not provided [RCV000926843]	likely benign	2	177675473	177675473	Human		name
15170329	CV746971	single nucleotide variant	NM_016953.4(PDE11A):c.2223C>A (p.Ala741=)	not provided [RCV000927677]	likely benign	2	177701142	177701142	Human		name
15098602	CV746972	single nucleotide variant	NM_016953.4(PDE11A):c.2034G>A (p.Ala678=)	not provided [RCV000914289]	likely benign	2	177727667	177727667	Human		name
15122485	CV746973	single nucleotide variant	NM_016953.4(PDE11A):c.1170A>T (p.Leu390=)	not provided [RCV000918654]	likely benign	2	177898190	177898190	Human		name
15112671	CV780977	single nucleotide variant	NM_016953.4(PDE11A):c.1986A>G (p.Leu662=)	not provided [RCV000977870]	likely benign	2	177727715	177727715	Human		name
126732187	CV1019499	single nucleotide variant	NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001333937]	uncertain significance	2	178071945	178071945	Human	1	name
150432972	CV1203487	deletion	NM_016953.4(PDE11A):c.1332del (p.Met445fs)	not provided [RCV001581642]	likely pathogenic\|uncertain significance	2	177875894	177875894	Human		name
150445058	CV1261137	single nucleotide variant	NM_016953.4(PDE11A):c.551G>A (p.Arg184Gln)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788754]\|not provided [RCV001679811]	benign	2	178071887	178071887	Human	1	name
150545913	CV1297023	deletion	NM_016953.4(PDE11A):c.1937del (p.Thr646fs)	not provided [RCV001763314]	uncertain significance	2	177727764	177727764	Human		name
8596758	CV20325	single nucleotide variant	NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV000005604]\|See cases [RCV002251878]\|not provided [RCV000950090]	pathogenic\|benign\|likely benign\|uncertain significance\|no classifications from unflagged records	2	178014454	178014454	Human	1	name
156314827	CV2196697	single nucleotide variant	NM_016953.4(PDE11A):c.460C>G (p.Arg154Gly)	not specified [RCV004069385]	uncertain significance	2	178071978	178071978	Human		name
155940806	CV2232251	single nucleotide variant	NM_016953.4(PDE11A):c.461G>T (p.Arg154Leu)	not specified [RCV004105036]	uncertain significance	2	178071977	178071977	Human		name
155940815	CV2232252	single nucleotide variant	NM_016953.4(PDE11A):c.473T>A (p.Leu158His)	not specified [RCV004105037]	uncertain significance	2	178071965	178071965	Human		name
156127628	CV2244675	single nucleotide variant	NM_001077197.2(PDE11A):c.23C>T (p.Pro8Leu)	not specified [RCV004102680]	uncertain significance	2	178104441	178104441	Human		name
12907384	CV227226	single nucleotide variant	NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV000490398]\|not provided [RCV002282045]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	178014388	178014388	Human	1	name
156242351	CV2283185	single nucleotide variant	NM_016953.4(PDE11A):c.371G>A (p.Ser124Asn)	not specified [RCV004145866]	uncertain significance	2	178072067	178072067	Human		name
155922059	CV2284260	single nucleotide variant	NM_016953.4(PDE11A):c.736G>A (p.Ala246Thr)	not specified [RCV004146619]	uncertain significance	2	178071702	178071702	Human		name
156165752	CV2398858	single nucleotide variant	NM_016953.4(PDE11A):c.323G>T (p.Gly108Val)	not specified [RCV004245180]	uncertain significance	2	178072115	178072115	Human		name
243052533	CV2416169	single nucleotide variant	NM_016953.4(PDE11A):c.914A>T (p.Asp305Val)	not provided [RCV003149229]	uncertain significance	2	178014459	178014459	Human		name
401933473	CV2804072	single nucleotide variant	NM_016953.4(PDE11A):c.775G>A (p.Asp259Asn)	PDE11A-related disorder [RCV003392825]	uncertain significance	2	178071663	178071663	Human		name , trait , alternate_id
405282211	CV3216316	single nucleotide variant	NM_016953.4(PDE11A):c.893A>G (p.Asn298Ser)	PDE11A-related disorder [RCV003956825]	benign	2	178071545	178071545	Human		name , trait , alternate_id
405278126	CV3217440	single nucleotide variant	NM_001077197.2(PDE11A):c.153A>G (p.Thr51=)	PDE11A-related disorder [RCV003964736]	likely benign	2	178104311	178104311	Human		name , trait , alternate_id
405775494	CV3375152	single nucleotide variant	NM_016953.4(PDE11A):c.635T>C (p.Ile212Thr)	not specified [RCV004503028]	uncertain significance	2	178071803	178071803	Human		name
405775500	CV3375153	single nucleotide variant	NM_016953.4(PDE11A):c.656C>T (p.Thr219Ile)	not specified [RCV004503029]	uncertain significance	2	178071782	178071782	Human		name
405775507	CV3375154	single nucleotide variant	NM_016953.4(PDE11A):c.781C>T (p.His261Tyr)	not specified [RCV004503030]	uncertain significance	2	178071657	178071657	Human		name
407523976	CV3460143	single nucleotide variant	NM_016953.4(PDE11A):c.980C>G (p.Pro327Arg)	not specified [RCV004653486]	uncertain significance	2	178014393	178014393	Human		name
408389041	CV3529191	deletion	NM_016953.4(PDE11A):c.51_54del (p.Arg17fs)	not provided [RCV004774013]	uncertain significance	2	178072384	178072387	Human		name
597698712	CV3568714	single nucleotide variant	NM_016953.4(PDE11A):c.665G>C (p.Ser222Thr)	not specified [RCV004839497]	uncertain significance	2	178071773	178071773	Human		name
597698721	CV3568716	single nucleotide variant	NM_016953.4(PDE11A):c.926A>G (p.Asn309Ser)	not specified [RCV004839498]	uncertain significance	2	178014447	178014447	Human		name
597698742	CV3568718	single nucleotide variant	NM_016953.4(PDE11A):c.814A>G (p.Thr272Ala)	not specified [RCV004839500]	uncertain significance	2	178071624	178071624	Human		name
597756737	CV3568720	single nucleotide variant	NM_016953.4(PDE11A):c.980C>T (p.Pro327Leu)	not specified [RCV004848183]	uncertain significance	2	178014393	178014393	Human		name
597756741	CV3568721	single nucleotide variant	NM_016953.4(PDE11A):c.421G>C (p.Val141Leu)	not specified [RCV004848184]	uncertain significance	2	178072017	178072017	Human		name
597698771	CV3568725	single nucleotide variant	NM_016953.4(PDE11A):c.959C>A (p.Thr320Lys)	not specified [RCV004839504]	uncertain significance	2	178014414	178014414	Human		name
597698812	CV3568732	single nucleotide variant	NM_016953.4(PDE11A):c.715T>C (p.Ser239Pro)	not specified [RCV004839509]	uncertain significance	2	178071723	178071723	Human		name
597756750	CV3568733	single nucleotide variant	NM_016953.4(PDE11A):c.860T>A (p.Ile287Asn)	not specified [RCV004848186]	uncertain significance	2	178071578	178071578	Human		name
12741317	CV359327	single nucleotide variant	NM_016953.4(PDE11A):c.497C>T (p.Pro166Leu)	not specified [RCV000414727]	uncertain significance	2	178071941	178071941	Human		name
598165921	CV4006185	single nucleotide variant	NM_016953.4(PDE11A):c.509A>G (p.His170Arg)	not specified [RCV005391406]	uncertain significance	2	178071929	178071929	Human		name
598165930	CV4006187	single nucleotide variant	NM_016953.4(PDE11A):c.886A>G (p.Thr296Ala)	not specified [RCV005391408]	uncertain significance	2	178071552	178071552	Human		name
598165936	CV4006188	single nucleotide variant	NM_016953.4(PDE11A):c.644A>T (p.Asp215Val)	not specified [RCV005391409]	uncertain significance	2	178071794	178071794	Human		name
15182915	CV719435	single nucleotide variant	NM_016953.4(PDE11A):c.604C>T (p.Arg202Cys)	not provided [RCV000886105]	benign	2	178071834	178071834	Human		name
15138990	CV732968	deletion	NM_016953.4(PDE11A):c.1660del (p.Cys554fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001262774]\|not provided [RCV000899075]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	177816906	177816906	Human	1	name
25318033	CV805256	duplication	NM_016953.4(PDE11A):c.2466dup (p.Pro823fs)	not provided [RCV001008378]	likely pathogenic\|uncertain significance	2	177675475	177675476	Human		name
126738521	CV1015887	single nucleotide variant	NM_016953.4(PDE11A):c.2631C>A (p.Cys877Ter)	not provided [RCV005412928]	pathogenic\|uncertain significance	2	177663881	177663881	Human		name
126738516	CV1015888	single nucleotide variant	NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001328976]	uncertain significance	2	177663894	177663894	Human	1	name
126738513	CV1015889	single nucleotide variant	NM_016953.4(PDE11A):c.2340C>G (p.Tyr780Ter)	PDE11A-related disorder [RCV004755223]	pathogenic\|uncertain significance	2	177697337	177697337	Human		name , trait , alternate_id
126910588	CV1037092	single nucleotide variant	NM_016953.4(PDE11A):c.2096T>A (p.Val699Glu)	not provided [RCV001354615]	uncertain significance	2	177711826	177711826	Human		name
126910345	CV1037093	single nucleotide variant	NM_016953.4(PDE11A):c.1984C>G (p.Leu662Val)	not provided [RCV001354524]	uncertain significance	2	177727717	177727717	Human		name
150487051	CV1225844	single nucleotide variant	NM_016953.4(PDE11A):c.2599C>G (p.Arg867Gly)	not provided [RCV001618005]	benign	2	177663913	177663913	Human		name
150556076	CV1295458	single nucleotide variant	NM_016953.4(PDE11A):c.1529G>C (p.Arg510Thr)	not provided [RCV001773893]	uncertain significance	2	177820267	177820267	Human		name
150546706	CV1301114	single nucleotide variant	NM_016953.4(PDE11A):c.2653G>A (p.Val885Met)	PDE11A-related disorder [RCV003956356]\|not provided [RCV001763597]	likely benign\|uncertain significance	2	177629556	177629556	Human	1	name , trait , alternate_id
150543188	CV1315132	single nucleotide variant	NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001782588]	likely pathogenic	2	177817917	177817917	Human	1	name
151350565	CV1324766	single nucleotide variant	NM_016953.4(PDE11A):c.1774G>A (p.Val592Ile)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001809211]	uncertain significance	2	177769337	177769337	Human	1	name
151350573	CV1324768	single nucleotide variant	NM_016953.4(PDE11A):c.2290C>T (p.Leu764Phe)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001809213]	uncertain significance	2	177697387	177697387	Human	1	name
151350577	CV1324769	single nucleotide variant	NM_016953.4(PDE11A):c.2336T>C (p.Leu779Pro)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001809214]	uncertain significance	2	177697341	177697341	Human	1	name
151663050	CV1330905	single nucleotide variant	NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser)	not specified [RCV001825083]	uncertain significance	2	177701134	177701134	Human		name
151663639	CV1334105	single nucleotide variant	NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001839279]	uncertain significance	2	177629531	177629531	Human	1	name
155265141	CV1704621	single nucleotide variant	NM_016953.4(PDE11A):c.1438G>C (p.Ala480Pro)	not provided [RCV002284837]	uncertain significance	2	177840313	177840313	Human		name
156333631	CV2220863	single nucleotide variant	NM_016953.4(PDE11A):c.1559G>A (p.Ser520Asn)	not specified [RCV004092291]	uncertain significance	2	177820237	177820237	Human		name
156019754	CV2230119	single nucleotide variant	NM_016953.4(PDE11A):c.2096T>C (p.Val699Ala)	not specified [RCV004099767]	uncertain significance	2	177711826	177711826	Human		name
156252954	CV2232459	single nucleotide variant	NM_016953.4(PDE11A):c.1625C>T (p.Ala542Val)	not specified [RCV004099076]	uncertain significance	2	177817877	177817877	Human		name
156033950	CV2236437	single nucleotide variant	NM_016953.4(PDE11A):c.2531G>C (p.Arg844Pro)	not specified [RCV004108110]	uncertain significance	2	177669524	177669524	Human		name
156002539	CV2257969	single nucleotide variant	NM_016953.4(PDE11A):c.2333C>T (p.Thr778Met)	not specified [RCV004129779]	uncertain significance	2	177697344	177697344	Human		name
12907309	CV227225	single nucleotide variant	NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV000490291]	pathogenic\|likely pathogenic	2	177728150	177728150	Human	1	name
156123960	CV2285720	single nucleotide variant	NM_016953.4(PDE11A):c.2005G>A (p.Ala669Thr)	not specified [RCV004141869]	uncertain significance	2	177727696	177727696	Human		name
156070282	CV2295799	single nucleotide variant	NM_016953.4(PDE11A):c.2101T>C (p.Cys701Arg)	not specified [RCV004151722]	uncertain significance	2	177711821	177711821	Human		name
156082172	CV2333947	single nucleotide variant	NM_016953.4(PDE11A):c.1340C>G (p.Pro447Arg)	not specified [RCV004183479]	uncertain significance	2	177875886	177875886	Human		name
156036302	CV2335078	single nucleotide variant	NM_016953.4(PDE11A):c.1357G>C (p.Ala453Pro)	not specified [RCV004184615]	uncertain significance	2	177875869	177875869	Human		name
156050945	CV2336629	single nucleotide variant	NM_016953.4(PDE11A):c.1757C>T (p.Thr586Ile)	not specified [RCV004196874]	uncertain significance	2	177769354	177769354	Human		name
155984924	CV2344933	single nucleotide variant	NM_016953.4(PDE11A):c.1976G>A (p.Arg659Gln)	not specified [RCV004191062]	uncertain significance	2	177727725	177727725	Human		name
156281620	CV2348792	single nucleotide variant	NM_016953.4(PDE11A):c.2576G>A (p.Arg859Gln)	not specified [RCV004203238]	uncertain significance	2	177663936	177663936	Human		name
156140813	CV2358352	single nucleotide variant	NM_016953.4(PDE11A):c.1288G>A (p.Asp430Asn)	not specified [RCV004214163]	uncertain significance	2	177898072	177898072	Human		name
156260247	CV2359234	single nucleotide variant	NM_016953.4(PDE11A):c.2756C>T (p.Ser919Leu)	not specified [RCV004212527]	uncertain significance	2	177629453	177629453	Human		name
155928525	CV2363308	single nucleotide variant	NM_016953.4(PDE11A):c.2678C>T (p.Pro893Leu)	not specified [RCV004213860]	uncertain significance	2	177629531	177629531	Human		name
156032851	CV2376531	single nucleotide variant	NM_016953.4(PDE11A):c.1298C>T (p.Ser433Leu)	not specified [RCV004220701]	uncertain significance	2	177898062	177898062	Human		name
155963238	CV2388368	single nucleotide variant	NM_016953.4(PDE11A):c.2354C>T (p.Thr785Ile)	not specified [RCV004234818]	uncertain significance	2	177680895	177680895	Human		name
156083443	CV2394973	single nucleotide variant	NM_016953.4(PDE11A):c.1858G>A (p.Val620Ile)	not specified [RCV004236669]	uncertain significance	2	177728103	177728103	Human		name
243059305	CV2405931	single nucleotide variant	NM_016953.4(PDE11A):c.2044A>G (p.Thr682Ala)	Pigmented nodular adrenocortical disease, primary, 2 [RCV003134775]	uncertain significance	2	177711878	177711878	Human	1	name
243059306	CV2405932	single nucleotide variant	NM_016953.4(PDE11A):c.2422C>T (p.Arg808Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV003134776]	uncertain significance	2	177680827	177680827	Human	1	name
243060026	CV2407774	single nucleotide variant	NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV003135609]	likely pathogenic	2	177905110	177905110	Human	1	name
329385928	CV2428144	single nucleotide variant	NM_016953.4(PDE11A):c.2599C>T (p.Arg867Trp)	not specified [RCV004251185]	uncertain significance	2	177663913	177663913	Human		name
329361487	CV2459751	single nucleotide variant	NM_016953.4(PDE11A):c.1894A>G (p.Met632Val)	not specified [RCV004277168]	uncertain significance	2	177728067	177728067	Human		name
329350308	CV2477321	single nucleotide variant	NM_016953.4(PDE11A):c.2363T>C (p.Phe788Ser)	not provided [RCV003221646]	uncertain significance	2	177680886	177680886	Human		name
329847525	CV2534501	single nucleotide variant	NM_016953.4(PDE11A):c.2436G>A (p.Met812Ile)	Pigmented nodular adrenocortical disease, primary, 2 [RCV003228713]	uncertain significance	2	177675506	177675506	Human	1	name
401735998	CV2672796	single nucleotide variant	NM_016953.4(PDE11A):c.1870A>T (p.Ile624Phe)	not specified [RCV004281577]	uncertain significance	2	177728091	177728091	Human		name
11636767	CV270766	single nucleotide variant	NM_016953.4(PDE11A):c.2308C>T (p.Gln770Ter)	not provided [RCV000274502]	uncertain significance	2	177697369	177697369	Human		name
401752052	CV2713965	single nucleotide variant	NM_016953.4(PDE11A):c.2513T>C (p.Phe838Ser)	not specified [RCV004315381]	uncertain significance	2	177669542	177669542	Human		name
401727166	CV2714924	single nucleotide variant	NM_016953.4(PDE11A):c.2725C>T (p.His909Tyr)	not specified [RCV004322254]	uncertain significance	2	177629484	177629484	Human		name
401871529	CV2783533	single nucleotide variant	NM_016953.4(PDE11A):c.1867A>G (p.Met623Val)	not specified [RCV004365863]	uncertain significance	2	177728094	177728094	Human		name
401925024	CV2819245	single nucleotide variant	NM_016953.4(PDE11A):c.2221G>A (p.Ala741Thr)	not provided [RCV003436264]	uncertain significance	2	177701144	177701144	Human		name
401917109	CV2819246	single nucleotide variant	NM_016953.4(PDE11A):c.1708T>C (p.Ser570Pro)	PDE11A-related disorder [RCV003919163]\|Pigmented nodular adrenocortical disease, primary, 2 [RCV004577575]\|not provided [RCV003429385]	benign\|likely benign	2	177816858	177816858	Human	1	name , trait , alternate_id
401964341	CV2843644	single nucleotide variant	NM_016953.4(PDE11A):c.2611G>C (p.Glu871Gln)	not specified [RCV003479987]	uncertain significance	2	177663901	177663901	Human		name
405273760	CV3198221	single nucleotide variant	NM_016953.4(PDE11A):c.2800T>C (p.Ter934Gln)	PDE11A-related disorder [RCV003901990]	uncertain significance	2	177629409	177629409	Human		name , trait , alternate_id
405273813	CV3199490	single nucleotide variant	NM_001077197.2(PDE11A):c.58A>T (p.Lys20Ter)	PDE11A-related disorder [RCV003916889]	likely benign	2	178104406	178104406	Human		name , trait , alternate_id
405291990	CV3207774	single nucleotide variant	NM_016953.4(PDE11A):c.2071G>A (p.Glu691Lys)	PDE11A-related disorder [RCV003929459]	likely benign	2	177711851	177711851	Human		name , trait , alternate_id
405295112	CV3211010	single nucleotide variant	NM_016953.4(PDE11A):c.2032G>A (p.Ala678Thr)	PDE11A-related disorder [RCV003937013]	benign	2	177727669	177727669	Human		name , trait , alternate_id
405775445	CV3375144	single nucleotide variant	NM_016953.4(PDE11A):c.1049C>T (p.Pro350Leu)	not specified [RCV004503020]	uncertain significance	2	178014324	178014324	Human		name
405775457	CV3375146	single nucleotide variant	NM_016953.4(PDE11A):c.1487G>A (p.Arg496His)	not specified [RCV004503022]	uncertain significance	2	177840264	177840264	Human		name
405775464	CV3375147	single nucleotide variant	NM_016953.4(PDE11A):c.1855G>A (p.Asp619Asn)	not specified [RCV004503023]	uncertain significance	2	177728106	177728106	Human		name
405775469	CV3375148	single nucleotide variant	NM_016953.4(PDE11A):c.1981G>T (p.Val661Phe)	not specified [RCV004503024]	uncertain significance	2	177727720	177727720	Human		name
405775475	CV3375149	single nucleotide variant	NM_016953.4(PDE11A):c.2086G>A (p.Ala696Thr)	not specified [RCV004503025]	uncertain significance	2	177711836	177711836	Human		name
407523970	CV3460140	single nucleotide variant	NM_016953.4(PDE11A):c.2580C>A (p.Asn860Lys)	not specified [RCV004653484]	uncertain significance	2	177663932	177663932	Human		name
407463271	CV3460141	single nucleotide variant	NM_016953.4(PDE11A):c.2744C>T (p.Ala915Val)	not specified [RCV004659639]	likely benign	2	177629465	177629465	Human		name
407523973	CV3460142	single nucleotide variant	NM_016953.4(PDE11A):c.2689T>G (p.Ser897Ala)	not specified [RCV004653485]	uncertain significance	2	177629520	177629520	Human		name
407463276	CV3460144	single nucleotide variant	NM_016953.4(PDE11A):c.1825G>T (p.Asp609Tyr)	not specified [RCV004659640]	uncertain significance	2	177728136	177728136	Human		name
407506062	CV3496103	single nucleotide variant	NM_016953.4(PDE11A):c.1045G>C (p.Ala349Pro)	not provided [RCV004697943]	uncertain significance	2	178014328	178014328	Human		name
408374759	CV3502518	single nucleotide variant	NM_016953.4(PDE11A):c.1120C>T (p.Gln374Ter)	not provided [RCV004726105]\|not specified [RCV005059786]	uncertain significance	2	177905139	177905139	Human		name
408391819	CV3523441	single nucleotide variant	NM_016953.4(PDE11A):c.2328C>A (p.Asp776Glu)	not provided [RCV004770815]	uncertain significance	2	177697349	177697349	Human		name
597698730	CV3568717	single nucleotide variant	NM_016953.4(PDE11A):c.2414A>G (p.Asp805Gly)	not specified [RCV004839499]	uncertain significance	2	177680835	177680835	Human		name
597698749	CV3568719	single nucleotide variant	NM_016953.4(PDE11A):c.1852C>G (p.Leu618Val)	not specified [RCV004839501]	uncertain significance	2	177728109	177728109	Human		name
597698763	CV3568724	single nucleotide variant	NM_016953.4(PDE11A):c.1582G>A (p.Ala528Thr)	not specified [RCV004839503]	uncertain significance	2	177817920	177817920	Human		name
597698780	CV3568728	single nucleotide variant	NM_016953.4(PDE11A):c.2782G>A (p.Ala928Thr)	not specified [RCV004839505]	uncertain significance	2	177629427	177629427	Human		name
597698788	CV3568729	single nucleotide variant	NM_016953.4(PDE11A):c.2563G>T (p.Ala855Ser)	not specified [RCV004839506]	uncertain significance	2	177663949	177663949	Human		name
597699483	CV3568730	single nucleotide variant	NM_016953.4(PDE11A):c.2622T>G (p.Asp874Glu)	not specified [RCV004839507]	uncertain significance	2	177663890	177663890	Human		name
12849329	CV363999	single nucleotide variant	NM_016953.4(PDE11A):c.2632A>G (p.Met878Val)	not provided [RCV000428049]	benign\|likely benign	2	177663880	177663880	Human		name
598227977	CV3896073	single nucleotide variant	NM_016953.4(PDE11A):c.2056C>T (p.Gln686Ter)	Pigmented nodular adrenocortical disease, primary, 2 [RCV005362323]	likely pathogenic	2	177711866	177711866	Human	1	name
598165899	CV4006182	single nucleotide variant	NM_016953.4(PDE11A):c.1714G>A (p.Ala572Thr)	not specified [RCV005391403]	uncertain significance	2	177816852	177816852	Human		name
598165926	CV4006186	single nucleotide variant	NM_016953.4(PDE11A):c.1802C>G (p.Pro601Arg)	not specified [RCV005391407]	uncertain significance	2	177728159	177728159	Human		name
598209010	CV4007810	single nucleotide variant	NM_016953.4(PDE11A):c.2125A>G (p.Arg709Gly)	Pigmented nodular adrenocortical disease, primary, 2 [RCV005400124]	uncertain significance	2	177711797	177711797	Human	1	name
13484619	CV443063	single nucleotide variant	NM_016953.4(PDE11A):c.1237C>T (p.Arg413Trp)	not provided [RCV000522384]	uncertain significance	2	177898123	177898123	Human		name
13706237	CV537371	single nucleotide variant	NM_016953.4(PDE11A):c.1397A>G (p.Tyr466Cys)	not provided [RCV000658890]	uncertain significance	2	177840354	177840354	Human		name
15175719	CV707869	single nucleotide variant	NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)	PDE11A-related disorder [RCV003906054]\|not provided [RCV000973017]	likely benign\|conflicting interpretations of pathogenicity	2	177728136	177728136	Human	1	name , trait , alternate_id
15200501	CV719430	single nucleotide variant	NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr)	PDE11A-related disorder [RCV003957947]\|Pigmented nodular adrenocortical disease, primary, 2 [RCV002505275]\|not provided [RCV000890931]	benign\|likely benign	2	177629562	177629562	Human	1	name , trait , alternate_id
15138994	CV732969	single nucleotide variant	NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr)	PDE11A-related disorder [RCV003912837]\|Pigmented nodular adrenocortical disease, primary, 2 [RCV001196800]\|not provided [RCV000899076]	likely benign\|uncertain significance	2	177816911	177816911	Human	1	name , trait , alternate_id
15120018	CV746968	single nucleotide variant	NM_016953.4(PDE11A):c.2743G>C (p.Ala915Pro)	not provided [RCV000918243]	likely benign	2	177629466	177629466	Human		name
15119183	CV746969	single nucleotide variant	NM_016953.4(PDE11A):c.2640G>T (p.Leu880Phe)	not provided [RCV000918102]	benign	2	177663872	177663872	Human		name
21070960	CV790128	single nucleotide variant	NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)	Pigmented nodular adrenocortical disease, primary, 2 [RCV000986932]\|not provided [RCV004693423]	uncertain significance	2	177727728	177727728	Human	1	name
12907443	CV227227	deletion	NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV000490486]\|not provided [RCV003884408]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity	2	178104443	178104444	Human	1	name
243060034	CV2407782	microsatellite	NM_016953.4(PDE11A):c.126_127del (p.His42fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV003135617]	likely pathogenic\|uncertain significance	2	178072311	178072312	Human		name
405279803	CV3220302	single nucleotide variant	NM_001077197.2(PDE11A):c.152C>T (p.Thr51Ile)	PDE11A-related disorder [RCV003976540]	benign	2	178104312	178104312	Human		name , trait , alternate_id
617153943	CV4018944	single nucleotide variant	NM_001077197.2(PDE11A):c.151A>G (p.Thr51Ala)	not provided [RCV005423352]	uncertain significance	2	178104313	178104313	Human		name
13520406	CV495101	deletion	NM_016953.4(PDE11A):c.460_461del (p.Arg154fs)	not provided [RCV000598612]	likely pathogenic	2	178071977	178071978	Human		name
8629980	CV85127	single nucleotide variant	NM_001077197.1(PDE11A):c.605A>T (p.Asp202Val)	Malignant melanoma [RCV000065209]	not provided	2	177875871	177875871	Human		name
150469387	CV1219065	microsatellite	NM_016953.4(PDE11A):c.2758TCC[3] (p.Ser921dup)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001788625]\|not provided [RCV001614817]	benign	2	177629445	177629446	Human		name
150543187	CV1315131	deletion	NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001782587]	likely pathogenic	2	177898080	177898090	Human	1	name
12907387	CV227224	deletion	NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV000490402]	pathogenic\|likely pathogenic	2	177697405	177697409	Human	1	name
598209016	CV4007811	deletion	NM_016953.4(PDE11A):c.1409_1422del (p.Leu470fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV005400125]	uncertain significance	2	177840329	177840342	Human	1	name
151350571	CV1324767	indel	NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs)	Pigmented nodular adrenocortical disease, primary, 2 [RCV001809212]	likely pathogenic	2	177728046	177728048	Human		name
401797172	CV2740898	deletion	NM_016953.4(PDE11A):c.793_816del (p.Pro265_Thr272del)	not provided [RCV003322062]	uncertain significance	2	178071622	178071645	Human		name

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