Cyld Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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381 records found for search term Cyld

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28884269	CV875381	single nucleotide variant	NM_015247.2(CYLD):c.-414T>C	Brooke-Spiegler syndrome [RCV001118689]\|Familial cylindromatosis [RCV001118690]\|Familial multiple trichoepitheliomata [RCV001118691]	uncertain significance	16	50742051	50742051	Human	1	name
11618595	CV325529	single nucleotide variant	NM_001378743.1(CYLD):c.-23A>C	Brooke-Spiegler syndrome [RCV000336578]\|Familial cylindromatosis [RCV000407638]\|Familial multiple trichoepitheliomata [RCV000315508]	uncertain significance	16	50749676	50749676	Human	1	name
11617118	CV335205	single nucleotide variant	NM_001378743.1(CYLD):c.*47G>A	Brooke-Spiegler syndrome [RCV000405239]\|Familial cylindromatosis [RCV000301407]\|Familial multiple trichoepitheliomata [RCV000353954]	benign\|likely benign	16	50796555	50796555	Human	1	name
28891088	CV875386	single nucleotide variant	NM_001378743.1(CYLD):c.*29T>C	Brooke-Spiegler syndrome [RCV001120839]\|Familial cylindromatosis [RCV001120838]\|Familial multiple trichoepitheliomata [RCV001120837]	uncertain significance	16	50796537	50796537	Human	1	name
28875442	CV875387	single nucleotide variant	NM_001378743.1(CYLD):c.*59T>C	Brooke-Spiegler syndrome [RCV001120840]\|Familial cylindromatosis [RCV001115901]\|Familial multiple trichoepitheliomata [RCV001115900]	uncertain significance	16	50796567	50796567	Human	1	name
11617961	CV325540	single nucleotide variant	NM_001378743.1(CYLD):c.*837A>G	Brooke-Spiegler syndrome [RCV000403655]\|Familial cylindromatosis [RCV000367049]\|Familial multiple trichoepitheliomata [RCV000308976]\|not provided [RCV004715963]	benign	16	50797345	50797345	Human	1	name
11634840	CV335203	single nucleotide variant	NM_001378743.1(CYLD):c.-229G>C	Brooke-Spiegler syndrome [RCV000284855]\|Familial cylindromatosis [RCV000379223]\|Familial multiple trichoepitheliomata [RCV000324789]	uncertain significance	16	50742099	50742099	Human	1	name
11634755	CV335207	single nucleotide variant	NM_001378743.1(CYLD):c.*403T>C	Brooke-Spiegler syndrome [RCV000365459]\|Familial cylindromatosis [RCV000331803]\|Familial multiple trichoepitheliomata [RCV000273126]	uncertain significance	16	50796911	50796911	Human	1	name
11615267	CV335210	single nucleotide variant	NM_001378743.1(CYLD):c.*698T>G	Brooke-Spiegler syndrome [RCV000323902]\|Familial cylindromatosis [RCV000376245]\|Familial multiple trichoepitheliomata [RCV000283955]	benign\|likely benign	16	50797206	50797206	Human	1	name
11613566	CV335214	single nucleotide variant	NM_001378743.1(CYLD):c.*841G>A	Brooke-Spiegler syndrome [RCV000366033]\|Familial cylindromatosis [RCV000326702]\|Familial multiple trichoepitheliomata [RCV000269336]\|not provided [RCV004715964]	benign\|likely benign	16	50797349	50797349	Human	1	name
11634860	CV341676	single nucleotide variant	NM_001378743.1(CYLD):c.*468A>C	Brooke-Spiegler syndrome [RCV000325794]\|Familial cylindromatosis [RCV000286124]\|Familial multiple trichoepitheliomata [RCV000382834]	uncertain significance	16	50796976	50796976	Human	1	name
11618498	CV341678	single nucleotide variant	NM_001378743.1(CYLD):c.*831C>T	Brooke-Spiegler syndrome [RCV000314741]\|Familial cylindromatosis [RCV000335580]\|Familial multiple trichoepitheliomata [RCV000407961]	benign\|uncertain significance	16	50797339	50797339	Human	1	name
11614143	CV343179	single nucleotide variant	NM_001378743.1(CYLD):c.*382T>C	Brooke-Spiegler syndrome [RCV000371400]\|Familial cylindromatosis [RCV000313834]\|Familial multiple trichoepitheliomata [RCV000274495]	benign\|likely benign	16	50796890	50796890	Human	1	name
11614614	CV343192	single nucleotide variant	NM_001378743.1(CYLD):c.*779G>A	Brooke-Spiegler syndrome [RCV000336608]\|Familial cylindromatosis [RCV000278284]\|Familial multiple trichoepitheliomata [RCV000407966]\|not provided [RCV003418001]	likely benign\|uncertain significance	16	50797287	50797287	Human	1	name
28884274	CV875382	single nucleotide variant	NM_001378743.1(CYLD):c.-215C>G	Brooke-Spiegler syndrome [RCV001120640]\|Familial cylindromatosis [RCV001120641]\|Familial multiple trichoepitheliomata [RCV001118692]	uncertain significance	16	50742113	50742113	Human	1	name
28875447	CV875388	single nucleotide variant	NM_001378743.1(CYLD):c.*139G>A	Brooke-Spiegler syndrome [RCV001115902]\|Familial cylindromatosis [RCV001115904]\|Familial multiple trichoepitheliomata [RCV001115903]\|not provided [RCV004715389]	benign	16	50796647	50796647	Human	1	name
28875450	CV875389	single nucleotide variant	NM_001378743.1(CYLD):c.*206A>C	Brooke-Spiegler syndrome [RCV001115905]\|Familial cylindromatosis [RCV001115906]\|Familial multiple trichoepitheliomata [RCV001115907]	uncertain significance	16	50796714	50796714	Human	1	name
28879937	CV875390	single nucleotide variant	NM_001378743.1(CYLD):c.*280A>G	Brooke-Spiegler syndrome [RCV001117356]\|Familial cylindromatosis [RCV001117357]\|Familial multiple trichoepitheliomata [RCV001117355]	uncertain significance	16	50796788	50796788	Human	1	name
126911834	CV1038440	single nucleotide variant	NM_001378743.1(CYLD):c.505-8A>G	not provided [RCV001355821]	uncertain significance	16	50751596	50751596	Human		name
11612980	CV325541	single nucleotide variant	NM_001378743.1(CYLD):c.*1102G>A	Brooke-Spiegler syndrome [RCV000264465]\|Familial cylindromatosis [RCV000360395]\|Familial multiple trichoepitheliomata [RCV000321999]	likely benign\|uncertain significance	16	50797610	50797610	Human	1	name
11615063	CV325543	single nucleotide variant	NM_001378743.1(CYLD):c.*1245T>C	Brooke-Spiegler syndrome [RCV000315963]\|Familial cylindromatosis [RCV000282082]\|Familial multiple trichoepitheliomata [RCV000374185]	likely benign\|uncertain significance	16	50797753	50797753	Human	1	name
11635006	CV325547	single nucleotide variant	NM_001378743.1(CYLD):c.*1308A>G	Brooke-Spiegler syndrome [RCV000352119]\|Familial cylindromatosis [RCV000294871]\|Familial multiple trichoepitheliomata [RCV000372868]	uncertain significance	16	50797816	50797816	Human	1	name
11617625	CV325548	single nucleotide variant	NM_001378743.1(CYLD):c.*1575G>A	Brooke-Spiegler syndrome [RCV000306461]\|Familial cylindromatosis [RCV000345013]\|Familial multiple trichoepitheliomata [RCV000392804]\|not provided [RCV003409500]	benign\|likely benign	16	50798083	50798083	Human	1	name
11612504	CV325550	single nucleotide variant	NM_001378743.1(CYLD):c.*1667G>T	Brooke-Spiegler syndrome [RCV000259927]\|Familial cylindromatosis [RCV000317446]\|Familial multiple trichoepitheliomata [RCV000388252]	uncertain significance	16	50798175	50798175	Human	1	name
11650101	CV325554	single nucleotide variant	NM_001378743.1(CYLD):c.*1746C>T	Brooke-Spiegler syndrome [RCV000348169]\|Familial cylindromatosis [RCV000290921]\|Familial multiple trichoepitheliomata [RCV000381603]	uncertain significance	16	50798254	50798254	Human	1	name
11649846	CV325555	single nucleotide variant	NM_001378743.1(CYLD):c.*1810A>T	Brooke-Spiegler syndrome [RCV000342188]\|Familial cylindromatosis [RCV000407296]\|Familial multiple trichoepitheliomata [RCV000289522]	uncertain significance	16	50798318	50798318	Human	1	name
11613388	CV325557	single nucleotide variant	NM_001378743.1(CYLD):c.*2556A>G	Brooke-Spiegler syndrome [RCV000317670]\|Familial cylindromatosis [RCV000267743]\|Familial multiple trichoepitheliomata [RCV000357784]	uncertain significance	16	50799064	50799064	Human	1	name
11652649	CV325569	single nucleotide variant	NM_001378743.1(CYLD):c.*2975C>T	Brooke-Spiegler syndrome [RCV000360845]\|Familial cylindromatosis [RCV000306131]\|Familial multiple trichoepitheliomata [RCV000392177]	uncertain significance	16	50799483	50799483	Human	1	name
11652398	CV325574	single nucleotide variant	NM_001378743.1(CYLD):c.*3305A>G	Brooke-Spiegler syndrome [RCV000304570]\|Familial cylindromatosis [RCV000407329]\|Familial multiple trichoepitheliomata [RCV000334752]	uncertain significance	16	50799813	50799813	Human	1	name
11613648	CV325584	single nucleotide variant	NM_001378743.1(CYLD):c.*3469T>C	Brooke-Spiegler syndrome [RCV000270324]\|Familial cylindromatosis [RCV000314937]\|Familial multiple trichoepitheliomata [RCV000369594]\|not provided [RCV003418004]	benign\|likely benign	16	50799977	50799977	Human	1	name
11618321	CV325585	single nucleotide variant	NM_001378743.1(CYLD):c.*3731C>T	Brooke-Spiegler syndrome [RCV000398890]\|Familial cylindromatosis [RCV000312871]\|Familial multiple trichoepitheliomata [RCV000338573]	likely benign\|uncertain significance	16	50800239	50800239	Human	1	name
11613608	CV325587	single nucleotide variant	NM_001378743.1(CYLD):c.*3739C>G	Brooke-Spiegler syndrome [RCV000269695]\|Familial cylindromatosis [RCV000363916]\|Familial multiple trichoepitheliomata [RCV000310793]	benign\|likely benign	16	50800247	50800247	Human	1	name
11616550	CV325588	single nucleotide variant	NM_001378743.1(CYLD):c.*4494G>A	Brooke-Spiegler syndrome [RCV000350765]\|Familial cylindromatosis [RCV000295804]\|Familial multiple trichoepitheliomata [RCV000385373]	uncertain significance	16	50801002	50801002	Human	1	name
11617210	CV325598	single nucleotide variant	NM_001378743.1(CYLD):c.*4567C>T	Brooke-Spiegler syndrome [RCV000302298]\|Familial cylindromatosis [RCV000359417]\|Familial multiple trichoepitheliomata [RCV000392298]	benign\|likely benign	16	50801075	50801075	Human	1	name
11634628	CV325599	single nucleotide variant	NM_001378743.1(CYLD):c.*4702C>T	Brooke-Spiegler syndrome [RCV000356844]\|Familial cylindromatosis [RCV000261089]\|Familial multiple trichoepitheliomata [RCV000318356]	uncertain significance	16	50801210	50801210	Human	1	name
11634762	CV325609	single nucleotide variant	NM_001378743.1(CYLD):c.*4841G>A	Brooke-Spiegler syndrome [RCV000273687]\|Familial cylindromatosis [RCV000331085]\|Familial multiple trichoepitheliomata [RCV000388179]	uncertain significance	16	50801349	50801349	Human	1	name
11646421	CV325612	single nucleotide variant	NM_001378743.1(CYLD):c.*5384A>G	Brooke-Spiegler syndrome [RCV000315056]\|Familial cylindromatosis [RCV000362689]\|Familial multiple trichoepitheliomata [RCV000270517]	uncertain significance	16	50801892	50801892	Human	1	name
11647671	CV335215	single nucleotide variant	NM_001378743.1(CYLD):c.*1727T>C	Brooke-Spiegler syndrome [RCV000330693]\|Familial cylindromatosis [RCV000387600]\|Familial multiple trichoepitheliomata [RCV000277496]	uncertain significance	16	50798235	50798235	Human	1	name
11614886	CV335216	single nucleotide variant	NM_001378743.1(CYLD):c.*2305A>T	Brooke-Spiegler syndrome [RCV000280681]\|Familial cylindromatosis [RCV000408114]\|Familial multiple trichoepitheliomata [RCV000334838]	likely benign\|uncertain significance	16	50798813	50798813	Human	1	name
11634727	CV335217	single nucleotide variant	NM_001378743.1(CYLD):c.*2438G>A	Brooke-Spiegler syndrome [RCV000365623]\|Familial cylindromatosis [RCV000271204]\|Familial multiple trichoepitheliomata [RCV000321559]	uncertain significance	16	50798946	50798946	Human	1	name
11615105	CV335221	single nucleotide variant	NM_001378743.1(CYLD):c.*2615A>G	Brooke-Spiegler syndrome [RCV000318688]\|Familial cylindromatosis [RCV000282392]\|Familial multiple trichoepitheliomata [RCV000372355]	benign\|likely benign	16	50799123	50799123	Human	1	name
11634815	CV335224	single nucleotide variant	NM_001378743.1(CYLD):c.*3722T>G	Brooke-Spiegler syndrome [RCV000372826]\|Familial cylindromatosis [RCV000341480]\|Familial multiple trichoepitheliomata [RCV000278886]	uncertain significance	16	50800230	50800230	Human	1	name
11615862	CV335227	single nucleotide variant	NM_001378743.1(CYLD):c.*4561G>A	Brooke-Spiegler syndrome [RCV000346744]\|Familial cylindromatosis [RCV000401157]\|Familial multiple trichoepitheliomata [RCV000289482]\|not provided [RCV004715087]	benign	16	50801069	50801069	Human	1	name
11652553	CV335242	single nucleotide variant	NM_001378743.1(CYLD):c.*4691A>G	Brooke-Spiegler syndrome [RCV000305654]\|Familial cylindromatosis [RCV000353593]\|Familial multiple trichoepitheliomata [RCV000392285]	uncertain significance	16	50801199	50801199	Human	1	name
11616290	CV341680	single nucleotide variant	NM_001378743.1(CYLD):c.*1341T>G	Brooke-Spiegler syndrome [RCV000392792]\|Familial cylindromatosis [RCV000293379]\|Familial multiple trichoepitheliomata [RCV000345944]	benign\|likely benign	16	50797849	50797849	Human	1	name
11652505	CV341681	duplication	NM_001378743.1(CYLD):c.*1587dup	Brooke-Spiegler syndrome [RCV000358415]\|Familial cylindromatosis [RCV000305299]\|Trichoepithelioma, multiple familial, 2 [RCV000390737]	uncertain significance	16	50798091	50798092	Human	2	name
11613172	CV341686	single nucleotide variant	NM_001378743.1(CYLD):c.*1590T>C	Brooke-Spiegler syndrome [RCV000266087]\|Familial cylindromatosis [RCV000357419]\|Familial multiple trichoepitheliomata [RCV000300149]\|not provided [RCV003418002]	benign\|likely benign	16	50798098	50798098	Human	1	name
11615192	CV341689	single nucleotide variant	NM_001378743.1(CYLD):c.*2150A>G	Brooke-Spiegler syndrome [RCV000327998]\|Familial cylindromatosis [RCV000283319]\|Familial multiple trichoepitheliomata [RCV000377886]	benign\|likely benign	16	50798658	50798658	Human	1	name
11616262	CV341690	single nucleotide variant	NM_001378743.1(CYLD):c.*2646G>A	Brooke-Spiegler syndrome [RCV000387151]\|Familial cylindromatosis [RCV000352325]\|Familial multiple trichoepitheliomata [RCV000292862]	benign\|likely benign	16	50799154	50799154	Human	1	name
11644535	CV341697	single nucleotide variant	NM_001378743.1(CYLD):c.*3000C>G	Brooke-Spiegler syndrome [RCV000315722]\|Familial cylindromatosis [RCV000356363]\|Familial multiple trichoepitheliomata [RCV000260461]	uncertain significance	16	50799508	50799508	Human	1	name
11612667	CV341699	single nucleotide variant	NM_001378743.1(CYLD):c.*3070A>G	Brooke-Spiegler syndrome [RCV000261645]\|Familial cylindromatosis [RCV000330971]\|Familial multiple trichoepitheliomata [RCV000385450]	benign\|likely benign	16	50799578	50799578	Human	1	name
11615354	CV341704	single nucleotide variant	NM_001378743.1(CYLD):c.*3229C>T	Brooke-Spiegler syndrome [RCV000407321]\|Familial cylindromatosis [RCV000284579]\|Familial multiple trichoepitheliomata [RCV000339625]\|not provided [RCV004694277]	uncertain significance	16	50799737	50799737	Human	1	name
11634764	CV341706	single nucleotide variant	NM_001378743.1(CYLD):c.*3384G>A	Brooke-Spiegler syndrome [RCV000273910]\|Familial cylindromatosis [RCV000299718]\|Familial multiple trichoepitheliomata [RCV000368480]	uncertain significance	16	50799892	50799892	Human	1	name
11613750	CV341708	single nucleotide variant	NM_001378743.1(CYLD):c.*3614C>A	Brooke-Spiegler syndrome [RCV000324998]\|Familial cylindromatosis [RCV000271120]\|Familial multiple trichoepitheliomata [RCV000384272]	benign\|likely benign	16	50800122	50800122	Human	1	name
11618461	CV341710	single nucleotide variant	NM_001378743.1(CYLD):c.*3736G>A	Brooke-Spiegler syndrome [RCV000408143]\|Familial cylindromatosis [RCV000348894]\|Familial multiple trichoepitheliomata [RCV000313954]\|not provided [RCV003418005]	benign\|likely benign	16	50800244	50800244	Human	1	name
11613206	CV341715	single nucleotide variant	NM_001378743.1(CYLD):c.*4388C>T	Brooke-Spiegler syndrome [RCV000321376]\|Familial cylindromatosis [RCV000266050]\|Familial multiple trichoepitheliomata [RCV000365480]	uncertain significance	16	50800896	50800896	Human	1	name
11613343	CV341718	single nucleotide variant	NM_001378743.1(CYLD):c.*4470C>A	Brooke-Spiegler syndrome [RCV000267341]\|Familial cylindromatosis [RCV000317839]\|Familial multiple trichoepitheliomata [RCV000380631]	uncertain significance	16	50800978	50800978	Human	1	name
11615238	CV341720	single nucleotide variant	NM_001378743.1(CYLD):c.*4947G>A	Brooke-Spiegler syndrome [RCV000341404]\|Familial cylindromatosis [RCV000284026]\|Familial multiple trichoepitheliomata [RCV000393581]	likely benign\|uncertain significance	16	50801455	50801455	Human	1	name
11616740	CV341721	single nucleotide variant	NM_001378743.1(CYLD):c.*5086A>G	Brooke-Spiegler syndrome [RCV000354360]\|Familial cylindromatosis [RCV000297191]\|Familial multiple trichoepitheliomata [RCV000393578]	benign\|likely benign	16	50801594	50801594	Human	1	name
11614391	CV341725	single nucleotide variant	NM_001378743.1(CYLD):c.*5272C>T	Brooke-Spiegler syndrome [RCV000276489]\|Familial cylindromatosis [RCV000368677]\|Familial multiple trichoepitheliomata [RCV000311754]	benign\|likely benign	16	50801780	50801780	Human	1	name
11612855	CV343153	single nucleotide variant	NM_001378743.1(CYLD):c.922+9C>A	Brooke-Spiegler syndrome [RCV000318170]\|Familial cylindromatosis [RCV000376328]\|Familial multiple trichoepitheliomata [RCV000263014]	benign\|likely benign	16	50775183	50775183	Human	1	name
11617298	CV343196	single nucleotide variant	NM_001378743.1(CYLD):c.*1831G>A	Brooke-Spiegler syndrome [RCV000336682]\|Familial cylindromatosis [RCV000407207]\|Familial multiple trichoepitheliomata [RCV000302842]	benign\|likely benign	16	50798339	50798339	Human	1	name
11614303	CV343198	single nucleotide variant	NM_001378743.1(CYLD):c.*1983T>C	Brooke-Spiegler syndrome [RCV000354286]\|Familial cylindromatosis [RCV000296875]\|Familial multiple trichoepitheliomata [RCV000275843]	uncertain significance	16	50798491	50798491	Human	1	name
11647204	CV343202	deletion	NM_001378743.1(CYLD):c.*2122del	Brooke-Spiegler syndrome [RCV000314663]\|Familial cylindromatosis [RCV000274799]\|Trichoepithelioma, multiple familial, 2 [RCV000366976]	benign	16	50798615	50798615	Human	2	name
11614791	CV343205	single nucleotide variant	NM_001378743.1(CYLD):c.*2236C>T	Brooke-Spiegler syndrome [RCV000279666]\|Familial cylindromatosis [RCV000343028]\|Familial multiple trichoepitheliomata [RCV000378870]	benign\|likely benign	16	50798744	50798744	Human	1	name
11618545	CV343211	single nucleotide variant	NM_001378743.1(CYLD):c.*2335T>C	Brooke-Spiegler syndrome [RCV000314862]\|Familial cylindromatosis [RCV000408122]\|Familial multiple trichoepitheliomata [RCV000349747]\|not provided [RCV004715086]	benign\|likely benign	16	50798843	50798843	Human	1	name
11617635	CV343217	single nucleotide variant	NM_001378743.1(CYLD):c.*2369G>A	Brooke-Spiegler syndrome [RCV000405713]\|Familial cylindromatosis [RCV000306239]\|Familial multiple trichoepitheliomata [RCV000369208]	benign\|likely benign	16	50798877	50798877	Human	1	name
11615887	CV343219	single nucleotide variant	NM_001378743.1(CYLD):c.*2710C>T	Brooke-Spiegler syndrome [RCV000402393]\|Familial cylindromatosis [RCV000344606]\|Familial multiple trichoepitheliomata [RCV000289662]	benign\|likely benign	16	50799218	50799218	Human	1	name
11617997	CV343222	single nucleotide variant	NM_001378743.1(CYLD):c.*2856T>C	Brooke-Spiegler syndrome [RCV000359531]\|Familial cylindromatosis [RCV000392201]\|Familial multiple trichoepitheliomata [RCV000309712]	uncertain significance	16	50799364	50799364	Human	1	name
11635024	CV343224	deletion	NM_001378743.1(CYLD):c.*3119del	Brooke-Spiegler syndrome [RCV000295900]\|Familial cylindromatosis [RCV000382145]\|Trichoepithelioma, multiple familial, 2 [RCV000332200]\|not provided [RCV003418003]	likely benign\|uncertain significance	16	50799620	50799620	Human	2	name
11615717	CV343226	single nucleotide variant	NM_001378743.1(CYLD):c.*3148T>C	Brooke-Spiegler syndrome [RCV000383728]\|Familial cylindromatosis [RCV000347858]\|Familial multiple trichoepitheliomata [RCV000288251]\|not provided [RCV003422268]	likely benign\|uncertain significance	16	50799656	50799656	Human	1	name
11615480	CV343227	single nucleotide variant	NM_001378743.1(CYLD):c.*3679T>C	Brooke-Spiegler syndrome [RCV000376254]\|Familial cylindromatosis [RCV000321514]\|Familial multiple trichoepitheliomata [RCV000286454]	benign\|likely benign	16	50800187	50800187	Human	1	name
11648185	CV343235	single nucleotide variant	NM_001378743.1(CYLD):c.*4485G>C	Brooke-Spiegler syndrome [RCV000374964]\|Familial cylindromatosis [RCV000280411]\|Familial multiple trichoepitheliomata [RCV000330886]	uncertain significance	16	50800993	50800993	Human	1	name
11616593	CV343236	single nucleotide variant	NM_001378743.1(CYLD):c.*4885A>T	Brooke-Spiegler syndrome [RCV000382325]\|Familial cylindromatosis [RCV000325361]\|Familial multiple trichoepitheliomata [RCV000296230]	likely benign\|uncertain significance	16	50801393	50801393	Human	1	name
597911165	CV3850448	single nucleotide variant	NM_001378743.1(CYLD):c.808-2A>C	not provided [RCV005203596]	likely pathogenic	16	50754317	50754317	Human		name
13535945	CV505645	single nucleotide variant	NM_001378743.1(CYLD):c.808-8A>G	not specified [RCV000608284]	likely benign	16	50754311	50754311	Human		name
28875666	CV875391	single nucleotide variant	NM_001378743.1(CYLD):c.*1033T>A	Brooke-Spiegler syndrome [RCV001116018]\|Familial cylindromatosis [RCV001116016]\|Familial multiple trichoepitheliomata [RCV001116017]	uncertain significance	16	50797541	50797541	Human	1	name
28875673	CV875392	single nucleotide variant	NM_001378743.1(CYLD):c.*1034C>A	Brooke-Spiegler syndrome [RCV001117465]\|Familial cylindromatosis [RCV001116019]\|Familial multiple trichoepitheliomata [RCV001116020]	uncertain significance	16	50797542	50797542	Human	1	name
28880261	CV875393	single nucleotide variant	NM_001378743.1(CYLD):c.*1191C>G	Brooke-Spiegler syndrome [RCV001117467]\|Familial cylindromatosis [RCV001117466]\|Familial multiple trichoepitheliomata [RCV001117468]	uncertain significance	16	50797699	50797699	Human	1	name
28880268	CV875394	single nucleotide variant	NM_001378743.1(CYLD):c.*1191C>T	Brooke-Spiegler syndrome [RCV001119070]\|Familial cylindromatosis [RCV001117469]\|Familial multiple trichoepitheliomata [RCV001119071]	uncertain significance	16	50797699	50797699	Human	1	name
28875929	CV875395	single nucleotide variant	NM_001378743.1(CYLD):c.*1651G>A	Brooke-Spiegler syndrome [RCV001116124]\|Familial cylindromatosis [RCV001116123]\|Familial multiple trichoepitheliomata [RCV001116122]	uncertain significance	16	50798159	50798159	Human	1	name
28885795	CV875396	single nucleotide variant	NM_001378743.1(CYLD):c.*2026G>A	Brooke-Spiegler syndrome [RCV001119160]\|Familial cylindromatosis [RCV001119159]\|Familial multiple trichoepitheliomata [RCV001121149]	uncertain significance	16	50798534	50798534	Human	1	name
28891907	CV875397	single nucleotide variant	NM_001378743.1(CYLD):c.*2113A>G	Brooke-Spiegler syndrome [RCV001121152]\|Familial cylindromatosis [RCV001121151]\|Familial multiple trichoepitheliomata [RCV001121150]	uncertain significance	16	50798621	50798621	Human	1	name
28891914	CV875398	single nucleotide variant	NM_001378743.1(CYLD):c.*2147T>G	Brooke-Spiegler syndrome [RCV001121155]\|Familial cylindromatosis [RCV001121153]\|Familial multiple trichoepitheliomata [RCV001121154]	uncertain significance	16	50798655	50798655	Human	1	name
28880951	CV875399	single nucleotide variant	NM_001378743.1(CYLD):c.*2424C>T	Brooke-Spiegler syndrome [RCV001117681]\|Familial cylindromatosis [RCV001117680]\|Familial multiple trichoepitheliomata [RCV001119248]	uncertain significance	16	50798932	50798932	Human	1	name
28886123	CV875400	single nucleotide variant	NM_001378743.1(CYLD):c.*2521G>A	Brooke-Spiegler syndrome [RCV001119250]\|Familial cylindromatosis [RCV001119249]\|Familial multiple trichoepitheliomata [RCV001119251]	uncertain significance	16	50799029	50799029	Human	1	name
28876618	CV875401	single nucleotide variant	NM_001378743.1(CYLD):c.*2848A>G	Brooke-Spiegler syndrome [RCV001116337]\|Familial cylindromatosis [RCV001116335]\|Familial multiple trichoepitheliomata [RCV001116336]	uncertain significance	16	50799356	50799356	Human	1	name
28886467	CV875402	single nucleotide variant	NM_001378743.1(CYLD):c.*3151T>G	Brooke-Spiegler syndrome [RCV001119348]\|Familial cylindromatosis [RCV001119349]\|Familial multiple trichoepitheliomata [RCV001119350]	uncertain significance	16	50799659	50799659	Human	1	name
28876931	CV875403	single nucleotide variant	NM_001378743.1(CYLD):c.*3462A>G	Brooke-Spiegler syndrome [RCV001116438]\|Familial cylindromatosis [RCV001116436]\|Familial multiple trichoepitheliomata [RCV001116437]	uncertain significance	16	50799970	50799970	Human	1	name
28876939	CV875404	single nucleotide variant	NM_001378743.1(CYLD):c.*3589C>T	Brooke-Spiegler syndrome [RCV001117896]\|Familial cylindromatosis [RCV001116439]\|Familial multiple trichoepitheliomata [RCV001117895]	uncertain significance	16	50800097	50800097	Human	1	name
28892724	CV875405	single nucleotide variant	NM_001378743.1(CYLD):c.*3851T>C	Brooke-Spiegler syndrome [RCV001121442]\|Familial cylindromatosis [RCV001121444]\|Familial multiple trichoepitheliomata [RCV001121443]	uncertain significance	16	50800359	50800359	Human	1	name
28877371	CV875406	single nucleotide variant	NM_001378743.1(CYLD):c.*3865C>T	Brooke-Spiegler syndrome [RCV001116553]\|Familial cylindromatosis [RCV001116552]\|Familial multiple trichoepitheliomata [RCV001121445]	uncertain significance	16	50800373	50800373	Human	1	name
28882017	CV875407	single nucleotide variant	NM_001378743.1(CYLD):c.*4514C>G	Brooke-Spiegler syndrome [RCV001119531]\|Familial cylindromatosis [RCV001118002]\|Familial multiple trichoepitheliomata [RCV001118001]	uncertain significance	16	50801022	50801022	Human	1	name
28887112	CV875408	single nucleotide variant	NM_001378743.1(CYLD):c.*4530G>T	Brooke-Spiegler syndrome [RCV001119533]\|Familial cylindromatosis [RCV001119532]\|Familial multiple trichoepitheliomata [RCV001119534]	uncertain significance	16	50801038	50801038	Human	1	name
28882431	CV875409	single nucleotide variant	NM_001378743.1(CYLD):c.*5060G>T	Brooke-Spiegler syndrome [RCV001118095]\|Familial cylindromatosis [RCV001118096]\|Familial multiple trichoepitheliomata [RCV001118097]	uncertain significance	16	50801568	50801568	Human	1	name
28887416	CV875410	single nucleotide variant	NM_001378743.1(CYLD):c.*5327C>A	Brooke-Spiegler syndrome [RCV001119638]\|Familial cylindromatosis [RCV001119637]\|Familial multiple trichoepitheliomata [RCV001119636]	uncertain significance	16	50801835	50801835	Human	1	name
28879230	CV876676	single nucleotide variant	NM_001378743.1(CYLD):c.913+5G>T	Brooke-Spiegler syndrome [RCV001117153]\|Familial cylindromatosis [RCV001117151]\|Familial multiple trichoepitheliomata [RCV001117152]\|not provided [RCV005093528]	benign	16	50754429	50754429	Human	1	name
150468609	CV1207437	single nucleotide variant	NM_001378743.1(CYLD):c.913+31G>A	not provided [RCV001588126]	likely benign	16	50754455	50754455	Human		name
151728059	CV1335120	single nucleotide variant	NM_001378743.1(CYLD):c.2686+1G>A	not provided [RCV001844438]	not provided	16	50794429	50794429	Human		name
152080699	CV1667008	single nucleotide variant	NM_001378743.1(CYLD):c.1684+2T>C	not provided [RCV002211353]	likely pathogenic	16	50781413	50781413	Human		name
8558566	CV20291	single nucleotide variant	NM_001378743.1(CYLD):c.2469+1G>A	Familial cylindromatosis [RCV000005564]	pathogenic	16	50793665	50793665	Human	1	name
8558571	CV20296	single nucleotide variant	NM_001378743.1(CYLD):c.1826+2T>G	Familial multiple trichoepitheliomata [RCV000005570]	pathogenic	16	50782468	50782468	Human	1	name
11558846	CV262118	single nucleotide variant	NM_001378743.1(CYLD):c.1684+3A>C	Familial cylindromatosis [RCV000257948]	uncertain significance	16	50781414	50781414	Human	1	name
11558869	CV262126	single nucleotide variant	NM_001378743.1(CYLD):c.2242-2A>G	Familial cylindromatosis [RCV000258001]	pathogenic	16	50792595	50792595	Human	1	name
11558848	CV262130	single nucleotide variant	NM_001378743.1(CYLD):c.2350+1G>T	Familial cylindromatosis [RCV000257951]	pathogenic	16	50792706	50792706	Human	1	name
401944012	CV2837298	single nucleotide variant	NM_001378743.1(CYLD):c.1827-3C>A	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468574]	uncertain significance	16	50784326	50784326	Human	1	name
405258851	CV3194195	duplication	NM_001378743.1(CYLD):c.1139-3dup	CYLD-related disorder [RCV003893776]	likely benign	16	50779656	50779657	Human		name , trait , alternate_id
408389352	CV3529347	single nucleotide variant	NM_001378743.1(CYLD):c.1949+5G>A	not provided [RCV004774169]	uncertain significance	16	50784456	50784456	Human		name
597972645	CV3790439	single nucleotide variant	NM_001378743.1(CYLD):c.2350+4A>G	not provided [RCV005142862]	uncertain significance	16	50792709	50792709	Human		name
597877640	CV3860290	single nucleotide variant	NM_001378743.1(CYLD):c.1684+1G>A	not provided [RCV005198499]	likely pathogenic	16	50781412	50781412	Human		name
597877649	CV3860291	single nucleotide variant	NM_001378743.1(CYLD):c.1950-2A>T	not provided [RCV005198500]	likely pathogenic	16	50786853	50786853	Human		name
40814266	CV966751	single nucleotide variant	NM_001378743.1(CYLD):c.2241+5G>A	Familial cylindromatosis [RCV001257399]	pathogenic	16	50791695	50791695	Human	1	name
150339197	CV1167658	single nucleotide variant	NM_001378743.1(CYLD):c.914-161A>G	not provided [RCV001534098]	benign	16	50775005	50775005	Human		name
150416108	CV1181379	single nucleotide variant	NM_001378743.1(CYLD):c.2042-50G>A	not provided [RCV001549449]	likely benign	16	50787736	50787736	Human		name
150405490	CV1191807	single nucleotide variant	NM_001378743.1(CYLD):c.1518+74C>G	not provided [RCV001564305]	likely benign	16	50780118	50780118	Human		name
150415132	CV1198777	single nucleotide variant	NM_001378743.1(CYLD):c.807+169C>G	not provided [RCV001575261]	likely benign	16	50752075	50752075	Human		name
150491730	CV1210413	single nucleotide variant	NM_001378743.1(CYLD):c.505-159A>G	not provided [RCV001592695]	likely benign	16	50751445	50751445	Human		name
150462212	CV1214612	duplication	NM_001378743.1(CYLD):c.1950-82dup	not provided [RCV001613605]	benign	16	50786761	50786762	Human		name
150446403	CV1232100	single nucleotide variant	NM_001378743.1(CYLD):c.923-188C>G	not provided [RCV001646008]	benign	16	50775991	50775991	Human		name
150459121	CV1236048	single nucleotide variant	NM_001378743.1(CYLD):c.2469+26A>G	Brooke-Spiegler syndrome [RCV001658372]\|Familial cylindromatosis [RCV001658371]\|Trichoepithelioma, multiple familial, 1 [RCV001658373]\|not provided [RCV001649019]	benign	16	50793690	50793690	Human	2	name
150459441	CV1236096	single nucleotide variant	NM_001378743.1(CYLD):c.2241+41T>A	not provided [RCV001649067]	benign	16	50791731	50791731	Human		name
150486256	CV1262550	single nucleotide variant	NM_001378743.1(CYLD):c.1518+42G>A	not provided [RCV001686947]	benign	16	50780086	50780086	Human		name
150471547	CV1270098	single nucleotide variant	NM_001378743.1(CYLD):c.-123-59A>G	not provided [RCV001695386]	benign	16	50749517	50749517	Human		name
150483129	CV1280137	single nucleotide variant	NM_001378743.1(CYLD):c.1685-86A>G	not provided [RCV001715136]	benign	16	50782239	50782239	Human		name
150480354	CV1282642	single nucleotide variant	NM_001378743.1(CYLD):c.2242-46G>T	not provided [RCV001714631]	benign	16	50792551	50792551	Human		name
8686655	CV139249	single nucleotide variant	NM_001378743.1(CYLD):c.2041+50C>A	not specified [RCV000122370]	not provided	16	50786996	50786996	Human		name
155802754	CV1857760	single nucleotide variant	NM_001378743.1(CYLD):c.2108+51T>C	not provided [RCV002461609]	likely benign	16	50787903	50787903	Human		name
405139903	CV3125510	single nucleotide variant	NM_001378743.1(CYLD):c.2109-11C>T	not provided [RCV003816617]	likely benign	16	50791547	50791547	Human		name
11612829	CV343159	single nucleotide variant	NM_001378743.1(CYLD):c.2109-10G>A	Brooke-Spiegler syndrome [RCV000316033]\|Familial cylindromatosis [RCV000263052]\|Familial multiple trichoepitheliomata [RCV000372945]\|Trichoepithelioma, multiple familial, 1 [RCV003316481]\|not provided [RCV001538964]	benign	16	50791548	50791548	Human	2	name
597848508	CV3746484	single nucleotide variant	NM_001378743.1(CYLD):c.1684+11G>C	not provided [RCV005060303]	likely benign	16	50781422	50781422	Human		name
15176423	CV744960	single nucleotide variant	NM_001378743.1(CYLD):c.2469+10C>T	Brooke-Spiegler syndrome [RCV001118876]\|Familial cylindromatosis [RCV001118874]\|Familial multiple trichoepitheliomata [RCV001118875]\|not provided [RCV000906426]	benign	16	50793674	50793674	Human	1	name
150339079	CV1167659	single nucleotide variant	NM_001378743.1(CYLD):c.1139-365G>A	not provided [RCV001534050]	likely benign	16	50779300	50779300	Human		name
150330494	CV1172849	duplication	NM_001378743.1(CYLD):c.2686+202dup	not provided [RCV001538113]	benign	16	50794619	50794620	Human		name
150427350	CV1188366	single nucleotide variant	NM_001378743.1(CYLD):c.2687-225T>C	not provided [RCV001560809]	likely benign	16	50796099	50796099	Human		name
150409992	CV1191808	single nucleotide variant	NM_001378743.1(CYLD):c.2469+234T>C	not provided [RCV001565851]	likely benign	16	50793898	50793898	Human		name
150503285	CV1212448	duplication	NM_001378743.1(CYLD):c.2470-273dup	not provided [RCV001595323]	benign	16	50793920	50793921	Human		name
150473205	CV1217590	single nucleotide variant	NM_001378743.1(CYLD):c.1022-229G>A	not provided [RCV001615601]	benign	16	50777596	50777596	Human		name
150468560	CV1218931	single nucleotide variant	NM_001378743.1(CYLD):c.1685-115A>C	not provided [RCV001614683]	benign	16	50782210	50782210	Human		name
150479497	CV1221515	single nucleotide variant	NM_001378743.1(CYLD):c.1519-286A>T	not provided [RCV001616594]	benign	16	50780960	50780960	Human		name
150495633	CV1225123	single nucleotide variant	NM_001378743.1(CYLD):c.1022-264T>A	not provided [RCV001619601]	benign	16	50777561	50777561	Human		name
150517145	CV1227882	single nucleotide variant	NM_001378743.1(CYLD):c.1138+112G>A	not provided [RCV001639686]	benign	16	50778053	50778053	Human		name
150514034	CV1228022	single nucleotide variant	NM_001378743.1(CYLD):c.2350+326G>A	not provided [RCV001638300]	benign	16	50793031	50793031	Human		name
150451691	CV1232835	single nucleotide variant	NM_001378743.1(CYLD):c.2351-240A>G	not provided [RCV001647910]	benign	16	50793306	50793306	Human		name
150462230	CV1253343	single nucleotide variant	NM_001378743.1(CYLD):c.1827-308A>G	not provided [RCV001669672]	benign	16	50784021	50784021	Human		name
150499824	CV1254427	single nucleotide variant	NM_001378743.1(CYLD):c.1684+110C>T	not provided [RCV001676601]	benign	16	50781521	50781521	Human		name
150442731	CV1264483	single nucleotide variant	NM_001378743.1(CYLD):c.2041+110G>A	not provided [RCV001679466]	benign	16	50787056	50787056	Human		name
150488699	CV1265289	single nucleotide variant	NM_001378743.1(CYLD):c.-204+132C>T	not provided [RCV001687325]	benign	16	50742256	50742256	Human		name
150492873	CV1268326	single nucleotide variant	NM_001378743.1(CYLD):c.1139-424T>C	not provided [RCV001688058]	benign	16	50779241	50779241	Human		name
150462826	CV1273066	single nucleotide variant	NM_001378743.1(CYLD):c.1826+283C>T	not provided [RCV001693823]	benign	16	50782749	50782749	Human		name
150451719	CV1232839	microsatellite	NM_001378743.1(CYLD):c.1826+60GT[9]	not provided [RCV001647914]	benign	16	50782525	50782526	Human		name
11648383	CV325523	single nucleotide variant	NM_001378743.1(CYLD):c.-124+1988A>G	Brooke-Spiegler syndrome [RCV000281466]\|Familial cylindromatosis [RCV000407633]\|Familial multiple trichoepitheliomata [RCV000339990]	uncertain significance	16	50744829	50744829	Human	1	name
8558576	CV20301	deletion	NM_001378743.1(CYLD):c.1950-1_1952del	Familial cylindromatosis [RCV000005578]	pathogenic	16	50786852	50786855	Human	1	name
11558857	CV262122	deletion	NM_001378743.1(CYLD):c.1950-2_1953del	Familial cylindromatosis [RCV000257975]	pathogenic	16	50786852	50786857	Human	1	name
11615902	CV335244	deletion	NM_001378743.1(CYLD):c.4888_4889del	Brooke-Spiegler syndrome [RCV000289841]\|Familial cylindromatosis [RCV000347085]\|Trichoepithelioma, multiple familial, 2 [RCV000390118]	benign	16	50801396	50801397	Human	2	name
11646852	CV343201	deletion	NM_001378743.1(CYLD):c.2121_2122del	Brooke-Spiegler syndrome [RCV000384529]\|Familial cylindromatosis [RCV000327606]\|Trichoepithelioma, multiple familial, 2 [RCV000272919]	uncertain significance	16	50798615	50798616	Human	2	name
11558844	CV262121	deletion	NM_001378743.1(CYLD):c.1950-5_1950-2del	Familial multiple trichoepitheliomata [RCV000257945]	uncertain significance	16	50786849	50786852	Human	1	name
597941711	CV3769240	deletion	NM_001378743.1(CYLD):c.2215_2241+289del	not provided [RCV005118735]	pathogenic	16	50791660	50791975	Human		name
597921608	CV3777386	deletion	NM_001378743.1(CYLD):c.1519-9_1519-6del	not provided [RCV005130315]	uncertain significance	16	50781234	50781237	Human		name
15116566	CV684598	single nucleotide variant	NM_001378743.1(CYLD):c.87C>T (p.Ser29=)	not provided [RCV000860966]	benign\|likely benign	16	50749785	50749785	Human		name
15155978	CV755223	single nucleotide variant	NM_001378743.1(CYLD):c.66C>T (p.Tyr22=)	not provided [RCV000924574]	likely benign	16	50749764	50749764	Human		name
150494083	CV1282464	microsatellite	NM_001378743.1(CYLD):c.807+98_807+111del	not provided [RCV001717137]	benign	16	50751980	50751993	Human		name
402491374	CV2866711	single nucleotide variant	NM_001378743.1(CYLD):c.24A>C (p.Gln8His)	not provided [RCV003572974]	uncertain significance	16	50749722	50749722	Human		name
11613821	CV343150	single nucleotide variant	NM_001378743.1(CYLD):c.126G>A (p.Pro42=)	Brooke-Spiegler syndrome [RCV000366568]\|Familial cylindromatosis [RCV000271988]\|Familial multiple trichoepitheliomata [RCV000308388]\|not provided [RCV005090478]	benign\|likely benign	16	50749824	50749824	Human	1	name
401903207	CV2807927	single nucleotide variant	NM_001378743.1(CYLD):c.534C>T (p.Asp178=)	not provided [RCV003419321]	likely benign	16	50751633	50751633	Human		name
401903208	CV2807928	single nucleotide variant	NM_001378743.1(CYLD):c.777A>G (p.Glu259=)	not provided [RCV003419322]	likely benign	16	50751876	50751876	Human		name
401944006	CV2837296	single nucleotide variant	NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468572]	uncertain significance	16	50749753	50749753	Human	1	name
401944109	CV2837333	single nucleotide variant	NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468609]	uncertain significance	16	50749768	50749768	Human	1	name
405284112	CV3213523	single nucleotide variant	NM_001378743.1(CYLD):c.867G>A (p.Ala289=)	CYLD-related disorder [RCV003922101]	likely benign	16	50754378	50754378	Human		name , trait , alternate_id
405666445	CV3239500	single nucleotide variant	NM_001378743.1(CYLD):c.40C>T (p.Pro14Ser)	Inborn genetic diseases [RCV004367744]	uncertain significance	16	50749738	50749738	Human	1	name
405852950	CV3393379	single nucleotide variant	NM_001378743.1(CYLD):c.582C>T (p.Gly194=)	not provided [RCV004546109]	likely benign	16	50751681	50751681	Human		name
405872924	CV3400233	single nucleotide variant	NM_001378743.1(CYLD):c.98A>G (p.Lys33Arg)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575738]	uncertain significance	16	50749796	50749796	Human	1	name
407426429	CV3409941	single nucleotide variant	NM_001378743.1(CYLD):c.595T>C (p.Leu199=)	not provided [RCV004585873]	likely benign	16	50751694	50751694	Human		name
11618200	CV341665	single nucleotide variant	NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)	Brooke-Spiegler syndrome [RCV000311859]\|Familial cylindromatosis [RCV000404707]\|Familial multiple trichoepitheliomata [RCV000370163]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003469254]\|not provided [RCV002264928]	benign\|uncertain significance	16	50749757	50749757	Human	2	name
11613246	CV343151	single nucleotide variant	NM_001378743.1(CYLD):c.543C>T (p.Tyr181=)	Brooke-Spiegler syndrome [RCV000321634]\|Familial cylindromatosis [RCV000266495]\|Familial multiple trichoepitheliomata [RCV000361140]	uncertain significance	16	50751642	50751642	Human	1	name
408375878	CV3511459	single nucleotide variant	NM_001378743.1(CYLD):c.378C>T (p.Asp126=)	CYLD-related disorder [RCV004748346]	likely benign	16	50750076	50750076	Human		name , trait , alternate_id
408376828	CV3516724	single nucleotide variant	NM_001378743.1(CYLD):c.403C>T (p.Leu135=)	CYLD-related disorder [RCV004750007]	likely benign	16	50750101	50750101	Human		name , trait , alternate_id
596946165	CV3548158	single nucleotide variant	NM_001378743.1(CYLD):c.888A>G (p.Leu296=)	not provided [RCV004809489]	likely benign	16	50754399	50754399	Human		name
597832375	CV3751354	deletion	NM_001378743.1(CYLD):c.2042-21_2042-18del	not provided [RCV005084900]	likely benign	16	50787763	50787766	Human		name
15196038	CV755224	single nucleotide variant	NM_001378743.1(CYLD):c.891G>A (p.Leu297=)	not provided [RCV000911583]	likely benign	16	50754402	50754402	Human		name
151233928	CV1317596	single nucleotide variant	NM_001378743.1(CYLD):c.170A>G (p.His57Arg)	Brooke-Spiegler syndrome [RCV001788976]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004571099]	uncertain significance	16	50749868	50749868	Human	2	name
151234593	CV1320356	single nucleotide variant	NM_001378743.1(CYLD):c.1356A>G (p.Ala452=)	CYLD-related disorder [RCV003941136]\|not provided [RCV001799980]	likely benign	16	50779882	50779882	Human		name , trait , alternate_id
8558574	CV20299	duplication	NM_001378743.1(CYLD):c.561dup (p.Gln188fs)	Familial cylindromatosis [RCV000005576]	pathogenic	16	50751655	50751656	Human	1	name
156440132	CV2401817	single nucleotide variant	NM_001378743.1(CYLD):c.176G>A (p.Arg59Lys)	not provided [RCV003110105]	uncertain significance	16	50749874	50749874	Human		name
11558860	CV262108	duplication	NM_001378743.1(CYLD):c.911dup (p.Ala305fs)	Familial cylindromatosis [RCV000257981]	pathogenic	16	50754419	50754420	Human	1	name
401903210	CV2807929	single nucleotide variant	NM_001378743.1(CYLD):c.1110A>G (p.Lys370=)	not provided [RCV003419323]	likely benign	16	50777913	50777913	Human		name
401911672	CV2807930	single nucleotide variant	NM_001378743.1(CYLD):c.1365A>G (p.Gln455=)	not provided [RCV003426702]	benign	16	50779891	50779891	Human		name
401934479	CV2807931	single nucleotide variant	NM_001378743.1(CYLD):c.1710A>T (p.Val570=)	not provided [RCV003411348]	likely benign	16	50782350	50782350	Human		name
401903213	CV2807932	single nucleotide variant	NM_001378743.1(CYLD):c.2418G>A (p.Pro806=)	not provided [RCV003419324]	likely benign	16	50793613	50793613	Human		name
401903215	CV2807934	single nucleotide variant	NM_001378743.1(CYLD):c.2646T>C (p.Asp882=)	not provided [RCV003419326]	likely benign	16	50794388	50794388	Human		name
401903217	CV2807935	single nucleotide variant	NM_001378743.1(CYLD):c.2814G>A (p.Leu938=)	CYLD-related disorder [RCV003929071]\|not provided [RCV003419327]	benign\|likely benign	16	50796451	50796451	Human		name , trait , alternate_id
401944020	CV2837301	single nucleotide variant	NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468577]	uncertain significance	16	50749855	50749855	Human	1	name
401944021	CV2837302	single nucleotide variant	NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468578]	uncertain significance	16	50749823	50749823	Human	1	name
401944053	CV2837313	single nucleotide variant	NM_001378743.1(CYLD):c.241G>T (p.Val81Phe)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468589]	uncertain significance	16	50749939	50749939	Human	1	name
401944075	CV2837321	single nucleotide variant	NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468597]	uncertain significance	16	50749983	50749983	Human	1	name
401944090	CV2837326	single nucleotide variant	NM_001378743.1(CYLD):c.274A>G (p.Ile92Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468602]	uncertain significance	16	50749972	50749972	Human	1	name
401944096	CV2837328	single nucleotide variant	NM_001378743.1(CYLD):c.208A>G (p.Ile70Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468604]\|not provided [RCV003779171]	uncertain significance	16	50749906	50749906	Human	1	name
402506583	CV3039174	single nucleotide variant	NM_001378743.1(CYLD):c.2385A>C (p.Ala795=)	not provided [RCV003715258]	likely benign	16	50793580	50793580	Human		name
405083458	CV3046991	single nucleotide variant	NM_001378743.1(CYLD):c.158G>A (p.Arg53His)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004573255]\|not provided [RCV003717307]	uncertain significance	16	50749856	50749856	Human	1	name
405265067	CV3185467	single nucleotide variant	NM_001378743.1(CYLD):c.2148A>G (p.Gln716=)	not provided [RCV003886031]	likely benign	16	50791597	50791597	Human		name
405277183	CV3198784	single nucleotide variant	NM_001378743.1(CYLD):c.2475C>T (p.His825=)	CYLD-related disorder [RCV003904107]	likely benign	16	50794217	50794217	Human		name , trait , alternate_id
405271651	CV3202937	single nucleotide variant	NM_001378743.1(CYLD):c.2340A>G (p.Leu780=)	CYLD-related disorder [RCV003913996]	likely benign	16	50792695	50792695	Human		name , trait , alternate_id
405295403	CV3209528	single nucleotide variant	NM_001378743.1(CYLD):c.2553C>T (p.His851=)	CYLD-related disorder [RCV003937284]	likely benign	16	50794295	50794295	Human		name , trait , alternate_id
405666434	CV3239498	single nucleotide variant	NM_001378743.1(CYLD):c.204T>G (p.Asn68Lys)	Inborn genetic diseases [RCV004367742]	uncertain significance	16	50749902	50749902	Human	1	name
405666439	CV3239499	single nucleotide variant	NM_001378743.1(CYLD):c.241G>A (p.Val81Ile)	Inborn genetic diseases [RCV004367743]	uncertain significance	16	50749939	50749939	Human	1	name
11617420	CV325534	single nucleotide variant	NM_001378743.1(CYLD):c.1473C>T (p.Ile491=)	Brooke-Spiegler syndrome [RCV000390589]\|Familial cylindromatosis [RCV000304442]\|Familial multiple trichoepitheliomata [RCV000361447]\|Trichoepithelioma, multiple familial, 1 [RCV003316480]\|not provided [RCV000861068]	benign\|likely benign	16	50779999	50779999	Human	2	name
11612971	CV325536	single nucleotide variant	NM_001378743.1(CYLD):c.1503C>T (p.Leu501=)	Brooke-Spiegler syndrome [RCV000303206]\|CYLD-related disorder [RCV003969903]\|Familial cylindromatosis [RCV000264382]\|Familial multiple trichoepitheliomata [RCV000355595]	likely benign\|uncertain significance	16	50780029	50780029	Human	2	name , trait , alternate_id
405872898	CV3400217	single nucleotide variant	NM_001378743.1(CYLD):c.284A>G (p.Lys95Arg)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575722]	uncertain significance	16	50749982	50749982	Human	1	name
405872906	CV3400222	single nucleotide variant	NM_001378743.1(CYLD):c.190A>G (p.Lys64Glu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575727]	uncertain significance	16	50749888	50749888	Human	1	name
405872935	CV3400240	single nucleotide variant	NM_001378743.1(CYLD):c.228G>C (p.Glu76Asp)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575745]	uncertain significance	16	50749926	50749926	Human	1	name
11614272	CV341669	single nucleotide variant	NM_001378743.1(CYLD):c.2145T>C (p.Tyr715=)	Brooke-Spiegler syndrome [RCV000385516]\|Familial cylindromatosis [RCV000275842]\|Familial multiple trichoepitheliomata [RCV000333288]	uncertain significance	16	50791594	50791594	Human	1	name
11616288	CV343162	single nucleotide variant	NM_001378743.1(CYLD):c.2319G>A (p.Leu773=)	Brooke-Spiegler syndrome [RCV000293316]\|Familial cylindromatosis [RCV000346160]\|Familial multiple trichoepitheliomata [RCV000384372]\|not provided [RCV003574741]	benign\|likely benign	16	50792674	50792674	Human	1	name
11615645	CV343168	single nucleotide variant	NM_001378743.1(CYLD):c.2412C>T (p.Asp804=)	Brooke-Spiegler syndrome [RCV000287584]\|Familial cylindromatosis [RCV000407073]\|Familial multiple trichoepitheliomata [RCV000344948]\|Trichoepithelioma, multiple familial, 1 [RCV003316482]\|not provided [RCV001636902]	benign	16	50793607	50793607	Human	2	name
408392866	CV3519597	single nucleotide variant	NM_001378743.1(CYLD):c.254A>T (p.Asp85Val)	not provided [RCV004763893]	uncertain significance	16	50749952	50749952	Human		name
596945884	CV3548002	single nucleotide variant	NM_001378743.1(CYLD):c.2295A>G (p.Leu765=)	not provided [RCV004809333]	likely benign	16	50792650	50792650	Human		name
597749501	CV3704786	single nucleotide variant	NM_001378743.1(CYLD):c.244C>T (p.Leu82Phe)	Brooke-Spiegler syndrome [RCV005015523]	uncertain significance	16	50749942	50749942	Human	1	name
597749494	CV3708921	single nucleotide variant	NM_001378743.1(CYLD):c.100C>A (p.Gln34Lys)	Brooke-Spiegler syndrome [RCV005015522]	uncertain significance	16	50749798	50749798	Human	1	name
617151534	CV4021853	single nucleotide variant	NM_001378743.1(CYLD):c.1767G>C (p.Gly589=)	not provided [RCV005426814]	likely benign	16	50782407	50782407	Human		name
15118748	CV684599	single nucleotide variant	NM_001378743.1(CYLD):c.2067G>A (p.Leu689=)	not provided [RCV000861368]	likely benign	16	50787811	50787811	Human		name
15187764	CV740234	single nucleotide variant	NM_001378743.1(CYLD):c.1920G>A (p.Leu640=)	not provided [RCV000909178]	likely benign	16	50784422	50784422	Human		name
15176152	CV740235	single nucleotide variant	NM_001378743.1(CYLD):c.1965T>C (p.Cys655=)	not provided [RCV000906370]	likely benign	16	50786870	50786870	Human		name
15149180	CV755225	single nucleotide variant	NM_001378743.1(CYLD):c.1071C>T (p.Thr357=)	not provided [RCV000923237]	likely benign	16	50777874	50777874	Human		name
15113947	CV755226	single nucleotide variant	NM_001378743.1(CYLD):c.1209G>A (p.Gln403=)	not provided [RCV000917187]	likely benign	16	50779735	50779735	Human		name
15135080	CV785292	single nucleotide variant	NM_001378743.1(CYLD):c.1236C>T (p.Thr412=)	not provided [RCV000981861]	likely benign	16	50779762	50779762	Human		name
15119662	CV785293	single nucleotide variant	NM_001378743.1(CYLD):c.1629T>A (p.Ser543=)	not provided [RCV000979155]	likely benign	16	50781356	50781356	Human		name
21075393	CV797338	single nucleotide variant	NM_001378743.1(CYLD):c.2256G>A (p.Leu752=)	not provided [RCV000996268]	uncertain significance	16	50792611	50792611	Human		name
28884910	CV875385	single nucleotide variant	NM_001378743.1(CYLD):c.2589T>C (p.Ala863=)	Brooke-Spiegler syndrome [RCV001118878]\|Familial cylindromatosis [RCV001118877]\|Familial multiple trichoepitheliomata [RCV001120836]	uncertain significance	16	50794331	50794331	Human	1	name
150414285	CV1191809	duplication	NM_001378743.1(CYLD):c.2469+274_2470-273dup	not provided [RCV001567468]	likely benign	16	50793920	50793921	Human		name
150494417	CV1282635	duplication	NM_001378743.1(CYLD):c.2686+201_2686+202dup	not provided [RCV001717202]	benign	16	50794619	50794620	Human		name
8687258	CV137695	single nucleotide variant	NM_001378743.1(CYLD):c.344A>G (p.Asn115Ser)	not specified [RCV000120625]	not provided	16	50750042	50750042	Human		name
8687259	CV137696	single nucleotide variant	NM_001378743.1(CYLD):c.665C>A (p.Thr222Lys)	Brooke-Spiegler syndrome [RCV001117148]\|Familial cylindromatosis [RCV001117150]\|Familial multiple trichoepitheliomata [RCV001117149]\|not specified [RCV000120626]	uncertain significance\|not provided	16	50751764	50751764	Human	1	name
8687260	CV137697	single nucleotide variant	NM_001378743.1(CYLD):c.988G>C (p.Gly330Arg)	not specified [RCV000120627]	not provided	16	50776244	50776244	Human		name
152981649	CV1676960	single nucleotide variant	NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys)	not specified [RCV002248027]	benign	16	50751613	50751613	Human		name
155800702	CV1860178	duplication	NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)	Brooke-Spiegler syndrome [RCV002466819]	likely pathogenic	16	50796356	50796357	Human	1	name
8558568	CV20293	deletion	NM_001378743.1(CYLD):c.2252del (p.Cys751fs)	Brooke-Spiegler syndrome [RCV000005567]\|Familial cylindromatosis [RCV000005566]	pathogenic	16	50792607	50792607	Human	1	name
8558569	CV20294	deletion	NM_001378743.1(CYLD):c.2172del (p.Val725fs)	Brooke-Spiegler syndrome [RCV000005568]	pathogenic	16	50791619	50791619	Human	1	name
8558575	CV20300	duplication	NM_001378743.1(CYLD):c.1392dup (p.Gly465fs)	Brooke-Spiegler syndrome [RCV000005577]	pathogenic	16	50779917	50779918	Human	1	name
156087251	CV2258974	single nucleotide variant	NM_001378743.1(CYLD):c.946C>T (p.Pro316Ser)	Inborn genetic diseases [RCV002798294]	uncertain significance	16	50776202	50776202	Human	1	name
156301493	CV2307073	single nucleotide variant	NM_001378743.1(CYLD):c.589G>C (p.Val197Leu)	Inborn genetic diseases [RCV002897986]	uncertain significance	16	50751688	50751688	Human	1	name
156440107	CV2401792	single nucleotide variant	NM_001378743.1(CYLD):c.932C>T (p.Thr311Met)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004572844]\|Inborn genetic diseases [RCV004614395]\|not provided [RCV003110080]	uncertain significance	16	50776188	50776188	Human	2	name
156448863	CV2402283	single nucleotide variant	NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003466015]\|not provided [RCV003120442]	uncertain significance	16	50751734	50751734	Human	1	name
11558863	CV262114	duplication	NM_001378743.1(CYLD):c.1537dup (p.Cys513fs)	Brooke-Spiegler syndrome [RCV000257987]\|not provided [RCV003574725]	pathogenic	16	50781263	50781264	Human	1	name
11558845	CV262115	duplication	NM_001378743.1(CYLD):c.1599dup (p.Val534fs)	Brooke-Spiegler syndrome [RCV000257947]	pathogenic	16	50781323	50781324	Human	1	name
11558854	CV262133	deletion	NM_001378743.1(CYLD):c.2515del (p.Ser839fs)	Familial cylindromatosis [RCV000257968]	pathogenic	16	50794257	50794257	Human	1	name
401921859	CV2802651	single nucleotide variant	NM_001378743.1(CYLD):c.899A>G (p.Asn300Ser)	CYLD-related disorder [RCV003403038]	uncertain significance	16	50754410	50754410	Human		name , trait , alternate_id
401944014	CV2837299	single nucleotide variant	NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468575]	uncertain significance	16	50750137	50750137	Human	1	name
401944027	CV2837304	single nucleotide variant	NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468580]	uncertain significance	16	50751826	50751826	Human	1	name
401944041	CV2837309	single nucleotide variant	NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468585]	uncertain significance	16	50751707	50751707	Human	1	name
401944060	CV2837315	single nucleotide variant	NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468591]	uncertain significance	16	50751739	50751739	Human	1	name
401944061	CV2837316	single nucleotide variant	NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468592]	uncertain significance	16	50751784	50751784	Human	1	name
401944064	CV2837317	single nucleotide variant	NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468593]	uncertain significance	16	50750165	50750165	Human	1	name
401944078	CV2837322	single nucleotide variant	NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468598]	uncertain significance	16	50754352	50754352	Human	1	name
401944081	CV2837323	single nucleotide variant	NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468599]	uncertain significance	16	50751748	50751748	Human	1	name
401944093	CV2837327	single nucleotide variant	NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468603]	uncertain significance	16	50750119	50750119	Human	1	name
401944102	CV2837330	single nucleotide variant	NM_001378743.1(CYLD):c.761T>G (p.Val254Gly)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468606]	uncertain significance	16	50751860	50751860	Human	1	name
401944105	CV2837331	single nucleotide variant	NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468607]	uncertain significance	16	50751710	50751710	Human	1	name
401944114	CV2837335	single nucleotide variant	NM_001378743.1(CYLD):c.694A>G (p.Ile232Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468611]	uncertain significance	16	50751793	50751793	Human	1	name
401944117	CV2837336	single nucleotide variant	NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468612]	uncertain significance	16	50776212	50776212	Human	1	name
401944120	CV2837337	single nucleotide variant	NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468613]	uncertain significance	16	50751779	50751779	Human	1	name
401944123	CV2837338	deletion	NM_001378743.1(CYLD):c.1111del (p.Ser371fs)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468614]\|not provided [RCV005100264]	pathogenic\|likely pathogenic	16	50777914	50777914	Human	1	name
405223298	CV2891330	single nucleotide variant	NM_001378743.1(CYLD):c.924G>T (p.Glu308Asp)	not provided [RCV003554252]	uncertain significance	16	50776180	50776180	Human		name
405872895	CV3400215	single nucleotide variant	NM_001378743.1(CYLD):c.522A>C (p.Gln174His)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575720]	uncertain significance	16	50751621	50751621	Human	1	name
405872901	CV3400219	single nucleotide variant	NM_001378743.1(CYLD):c.305C>T (p.Ala102Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575724]	uncertain significance	16	50750003	50750003	Human	1	name
405872902	CV3400220	single nucleotide variant	NM_001378743.1(CYLD):c.335T>A (p.Leu112Gln)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575725]	uncertain significance	16	50750033	50750033	Human	1	name
405872914	CV3400227	single nucleotide variant	NM_001378743.1(CYLD):c.829G>A (p.Asp277Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575732]	uncertain significance	16	50754340	50754340	Human	1	name
405872927	CV3400235	single nucleotide variant	NM_001378743.1(CYLD):c.895A>G (p.Ile299Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575740]	uncertain significance	16	50754406	50754406	Human	1	name
405872932	CV3400238	single nucleotide variant	NM_001378743.1(CYLD):c.676G>A (p.Glu226Lys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575743]	uncertain significance	16	50751775	50751775	Human	1	name
405872933	CV3400239	single nucleotide variant	NM_001378743.1(CYLD):c.730A>G (p.Ile244Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575744]	uncertain significance	16	50751829	50751829	Human	1	name
408376535	CV3514607	single nucleotide variant	NM_001378743.1(CYLD):c.725A>G (p.Glu242Gly)	CYLD-related disorder [RCV004749250]	uncertain significance	16	50751824	50751824	Human		name , trait , alternate_id
597672199	CV3658073	single nucleotide variant	NM_001378743.1(CYLD):c.382G>A (p.Gly128Ser)	Inborn genetic diseases [RCV004981421]	uncertain significance	16	50750080	50750080	Human	1	name
597946487	CV3790144	duplication	NM_001378743.1(CYLD):c.1126dup (p.Tyr376fs)	not provided [RCV005134845]	pathogenic	16	50777928	50777929	Human		name
597962322	CV3795469	deletion	NM_001378743.1(CYLD):c.1930del (p.Ile644fs)	not provided [RCV005139161]	pathogenic	16	50784430	50784430	Human		name
598237205	CV3956305	single nucleotide variant	NM_001378743.1(CYLD):c.372A>C (p.Gln124His)	Inborn genetic diseases [RCV005320597]	uncertain significance	16	50750070	50750070	Human	1	name
15173492	CV788710	duplication	NM_001378743.1(CYLD):c.2040dup (p.Asp681fs)	Multiple myeloma [RCV000984131]	likely pathogenic	16	50786940	50786941	Human	2	name
150531976	CV1306171	single nucleotide variant	NM_001378743.1(CYLD):c.1853A>T (p.Asp618Val)	not provided [RCV001757360]	uncertain significance	16	50784355	50784355	Human		name
150555020	CV1310010	single nucleotide variant	NM_001378743.1(CYLD):c.2854A>T (p.Met952Leu)	not provided [RCV003238016]	uncertain significance	16	50796491	50796491	Human		name
8687257	CV137694	single nucleotide variant	NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003467072]\|not specified [RCV000120623]	uncertain significance\|not provided	16	50784435	50784435	Human	1	name
8687261	CV137698	single nucleotide variant	NM_001378743.1(CYLD):c.1292G>A (p.Gly431Glu)	Brooke-Spiegler syndrome [RCV000345237]\|Familial cylindromatosis [RCV000392635]\|Familial multiple trichoepitheliomata [RCV000309052]\|Trichoepithelioma, multiple familial, 1 [RCV003315744]\|not specified [RCV000120628]	benign\|likely benign\|not provided	16	50779818	50779818	Human	2	name
8558567	CV20292	single nucleotide variant	NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)	Brooke-Spiegler syndrome [RCV005234779]\|Familial cylindromatosis [RCV000005565]\|not provided [RCV002281697]\|not specified [RCV000120624]	pathogenic\|not provided	16	50792627	50792627	Human	1	name
8558572	CV20297	single nucleotide variant	NM_001378743.1(CYLD):c.2240A>G (p.Glu747Gly)	Brooke-Spiegler syndrome [RCV000005572]\|Familial multiple trichoepitheliomata [RCV000005571]	pathogenic	16	50791689	50791689	Human	1	name
8558573	CV20298	single nucleotide variant	NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	Brooke-Spiegler syndrome [RCV000005575]\|Brooke-Spiegler syndrome [RCV002496269]\|Familial cylindromatosis [RCV000005573]\|Familial multiple trichoepitheliomata [RCV000005574]\|not provided [RCV005089180]	pathogenic	16	50796443	50796443	Human	1	name
155962282	CV2254377	single nucleotide variant	NM_001378743.1(CYLD):c.1357C>A (p.Pro453Thr)	Inborn genetic diseases [RCV002816951]	uncertain significance	16	50779883	50779883	Human	1	name
243057207	CV2415028	single nucleotide variant	NM_001378743.1(CYLD):c.1142C>T (p.Ala381Val)	not provided [RCV003145970]	uncertain significance	16	50779668	50779668	Human		name
243054622	CV2419012	single nucleotide variant	NM_001378743.1(CYLD):c.1004A>G (p.Asn335Ser)	Ovarian cancer [RCV003154695]	benign	16	50776260	50776260	Human	2	name
243054658	CV2419036	single nucleotide variant	NM_001378743.1(CYLD):c.1189C>A (p.Arg397Ser)	Ovarian cancer [RCV003154720]	benign	16	50779715	50779715	Human	2	name
329374894	CV2470801	single nucleotide variant	NM_001378743.1(CYLD):c.2516C>T (p.Ser839Leu)	Inborn genetic diseases [RCV003210965]	uncertain significance	16	50794258	50794258	Human	1	name
11558858	CV262111	single nucleotide variant	NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	Brooke-Spiegler syndrome [RCV001814137]\|Brooke-Spiegler syndrome [RCV005016661]\|Familial cylindromatosis [RCV000257976]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003469207]\|not provided [RCV000760471]	pathogenic	16	50777915	50777915	Human	2	name
11558838	CV262112	single nucleotide variant	NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter)	Familial cylindromatosis [RCV000257934]	pathogenic	16	50779853	50779853	Human	1	name
11558851	CV262113	single nucleotide variant	NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter)	Familial cylindromatosis [RCV000257960]	pathogenic	16	50779889	50779889	Human	1	name
11558865	CV262117	single nucleotide variant	NM_001378743.1(CYLD):c.1684G>C (p.Ala562Pro)	Familial cylindromatosis [RCV000257995]	uncertain significance	16	50781411	50781411	Human	1	name
11558856	CV262119	single nucleotide variant	NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter)	Familial cylindromatosis [RCV000257974]	pathogenic	16	50782411	50782411	Human	1	name
11558870	CV262120	single nucleotide variant	NM_001378743.1(CYLD):c.1778G>A (p.Gly593Asp)	Familial cylindromatosis [RCV000258002]\|not provided [RCV005090319]	uncertain significance	16	50782418	50782418	Human	1	name
11558867	CV262123	single nucleotide variant	NM_001378743.1(CYLD):c.2041G>C (p.Asp681His)	Familial cylindromatosis [RCV000257999]	uncertain significance	16	50786946	50786946	Human	1	name
11558850	CV262124	single nucleotide variant	NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys)	Brooke-Spiegler syndrome [RCV000257955]	pathogenic	16	50787852	50787852	Human	1	name
11558859	CV262128	single nucleotide variant	NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)	Brooke-Spiegler syndrome [RCV002466483]\|Familial cylindromatosis [RCV000257977]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003469208]	pathogenic	16	50792654	50792654	Human	2	name
11558839	CV262129	single nucleotide variant	NM_001378743.1(CYLD):c.2342T>C (p.Leu781Pro)	Brooke-Spiegler syndrome [RCV000257935]	uncertain significance	16	50792697	50792697	Human	1	name
11558864	CV262134	single nucleotide variant	NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter)	Familial cylindromatosis [RCV000257992]	pathogenic	16	50794311	50794311	Human	1	name
401723526	CV2737843	single nucleotide variant	NM_001378743.1(CYLD):c.2402A>T (p.Glu801Val)	not provided [RCV003315015]	uncertain significance	16	50793597	50793597	Human		name
401896562	CV2782219	single nucleotide variant	NM_001378743.1(CYLD):c.2844G>T (p.Gln948His)	Inborn genetic diseases [RCV003374174]	uncertain significance	16	50796481	50796481	Human	1	name
401879432	CV2791624	single nucleotide variant	NM_001378743.1(CYLD):c.2646T>A (p.Asp882Glu)	Inborn genetic diseases [RCV003384659]	uncertain significance	16	50794388	50794388	Human	1	name
401905160	CV2800445	single nucleotide variant	NM_001378743.1(CYLD):c.1276A>T (p.Met426Leu)	CYLD-related disorder [RCV003420731]	uncertain significance	16	50779802	50779802	Human		name , trait , alternate_id
401931650	CV2803861	single nucleotide variant	NM_001378743.1(CYLD):c.2263C>T (p.Gln755Ter)	CYLD-related disorder [RCV003408406]	pathogenic	16	50792618	50792618	Human		name , trait , alternate_id
401903214	CV2807933	single nucleotide variant	NM_001378743.1(CYLD):c.2476C>T (p.Leu826Phe)	CYLD-related disorder [RCV003954146]\|not provided [RCV003419325]	likely benign	16	50794218	50794218	Human		name , trait , alternate_id
401944009	CV2837297	single nucleotide variant	NM_001378743.1(CYLD):c.2462A>G (p.Asn821Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468573]	uncertain significance	16	50793657	50793657	Human	1	name
401944017	CV2837300	single nucleotide variant	NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468576]	uncertain significance	16	50779667	50779667	Human	1	name
401944025	CV2837303	single nucleotide variant	NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468579]	uncertain significance	16	50776272	50776272	Human	1	name
401944034	CV2837306	single nucleotide variant	NM_001378743.1(CYLD):c.2578G>C (p.Glu860Gln)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468582]	uncertain significance	16	50794320	50794320	Human	1	name
401944037	CV2837307	single nucleotide variant	NM_001378743.1(CYLD):c.2650G>T (p.Ala884Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468583]	uncertain significance	16	50794392	50794392	Human	1	name
401944040	CV2837308	single nucleotide variant	NM_001378743.1(CYLD):c.1763T>C (p.Ile588Thr)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468584]\|not provided [RCV005062972]	uncertain significance	16	50782403	50782403	Human	1	name
401944044	CV2837310	single nucleotide variant	NM_001378743.1(CYLD):c.2434A>G (p.Lys812Glu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468586]	uncertain significance	16	50793629	50793629	Human	1	name
401944047	CV2837311	single nucleotide variant	NM_001378743.1(CYLD):c.1331C>G (p.Ser444Cys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468587]	uncertain significance	16	50779857	50779857	Human	1	name
401944050	CV2837312	single nucleotide variant	NM_001378743.1(CYLD):c.2644G>A (p.Asp882Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468588]	uncertain significance	16	50794386	50794386	Human	1	name
401944056	CV2837314	single nucleotide variant	NM_001378743.1(CYLD):c.1433T>C (p.Val478Ala)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468590]	uncertain significance	16	50779959	50779959	Human	1	name
401944068	CV2837318	single nucleotide variant	NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468594]	uncertain significance	16	50777881	50777881	Human	1	name
401944070	CV2837319	single nucleotide variant	NM_001378743.1(CYLD):c.1249C>T (p.His417Tyr)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468595]	uncertain significance	16	50779775	50779775	Human	1	name
401944072	CV2837320	single nucleotide variant	NM_001378743.1(CYLD):c.2172A>C (p.Lys724Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468596]	uncertain significance	16	50791621	50791621	Human	1	name
401944084	CV2837324	single nucleotide variant	NM_001378743.1(CYLD):c.1289A>G (p.Asn430Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468600]	uncertain significance	16	50779815	50779815	Human	1	name
401944086	CV2837325	single nucleotide variant	NM_001378743.1(CYLD):c.1402C>T (p.His468Tyr)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468601]	uncertain significance	16	50779928	50779928	Human	1	name
401944099	CV2837329	single nucleotide variant	NM_001378743.1(CYLD):c.1190G>A (p.Arg397His)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468605]	uncertain significance	16	50779716	50779716	Human	1	name
401944107	CV2837332	single nucleotide variant	NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468608]	uncertain significance	16	50779677	50779677	Human	1	name
401944111	CV2837334	single nucleotide variant	NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468610]	uncertain significance	16	50776264	50776264	Human	1	name
405259754	CV3195212	single nucleotide variant	NM_001378743.1(CYLD):c.1985T>C (p.Leu662Pro)	CYLD-related disorder [RCV003894408]	uncertain significance	16	50786890	50786890	Human		name , trait , alternate_id
405653573	CV3227899	single nucleotide variant	NM_001378743.1(CYLD):c.2039A>G (p.Lys680Arg)	Familial cylindromatosis [RCV003994641]	pathogenic\|uncertain significance	16	50786944	50786944	Human	1	name
405654975	CV3228420	single nucleotide variant	NM_001378743.1(CYLD):c.2390A>T (p.Tyr797Phe)	not specified [RCV003995155]	uncertain significance	16	50793585	50793585	Human		name
11616309	CV325530	single nucleotide variant	NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr)	Brooke-Spiegler syndrome [RCV000348615]\|Familial cylindromatosis [RCV000293720]\|Familial multiple trichoepitheliomata [RCV000388023]\|not provided [RCV005055876]	benign\|likely benign\|uncertain significance	16	50779698	50779698	Human	1	name
405872888	CV3400211	single nucleotide variant	NM_001378743.1(CYLD):c.2242G>A (p.Ala748Thr)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575716]	uncertain significance	16	50792597	50792597	Human	1	name
405872890	CV3400212	single nucleotide variant	NM_001378743.1(CYLD):c.1882A>G (p.Asn628Asp)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575717]	uncertain significance	16	50784384	50784384	Human	1	name
405872891	CV3400213	single nucleotide variant	NM_001378743.1(CYLD):c.1087G>C (p.Val363Leu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575718]	uncertain significance	16	50777890	50777890	Human	1	name
405872894	CV3400214	single nucleotide variant	NM_001378743.1(CYLD):c.1435A>G (p.Lys479Glu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575719]	uncertain significance	16	50779961	50779961	Human	1	name
405872896	CV3400216	single nucleotide variant	NM_001378743.1(CYLD):c.1208A>C (p.Gln403Pro)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575721]	uncertain significance	16	50779734	50779734	Human	1	name
405872900	CV3400218	single nucleotide variant	NM_001378743.1(CYLD):c.2538C>A (p.Asp846Glu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575723]	uncertain significance	16	50794280	50794280	Human	1	name
405872905	CV3400221	single nucleotide variant	NM_001378743.1(CYLD):c.2119C>A (p.Gln707Lys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575726]	uncertain significance	16	50791568	50791568	Human	1	name
405872908	CV3400223	single nucleotide variant	NM_001378743.1(CYLD):c.2410G>A (p.Asp804Asn)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575728]	uncertain significance	16	50793605	50793605	Human	1	name
405872909	CV3400224	single nucleotide variant	NM_001378743.1(CYLD):c.2512G>C (p.Val838Leu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575729]	uncertain significance	16	50794254	50794254	Human	1	name
405872911	CV3400225	single nucleotide variant	NM_001378743.1(CYLD):c.2554G>A (p.Gly852Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575730]	uncertain significance	16	50794296	50794296	Human	1	name
405872913	CV3400226	single nucleotide variant	NM_001378743.1(CYLD):c.2570A>T (p.Gln857Leu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575731]	uncertain significance	16	50794312	50794312	Human	1	name
405872915	CV3400228	single nucleotide variant	NM_001378743.1(CYLD):c.1724C>T (p.Thr575Ile)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575733]	uncertain significance	16	50782364	50782364	Human	1	name
405872918	CV3400229	single nucleotide variant	NM_001378743.1(CYLD):c.2678A>G (p.Asp893Gly)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575734]	uncertain significance	16	50794420	50794420	Human	1	name
405872919	CV3400230	single nucleotide variant	NM_001378743.1(CYLD):c.2426C>T (p.Ser809Leu)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575735]	uncertain significance	16	50793621	50793621	Human	1	name
405872920	CV3400231	single nucleotide variant	NM_001378743.1(CYLD):c.2495A>G (p.Asn832Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575736]	uncertain significance	16	50794237	50794237	Human	1	name
405872923	CV3400232	single nucleotide variant	NM_001378743.1(CYLD):c.1121C>T (p.Thr374Ile)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575737]	uncertain significance	16	50777924	50777924	Human	1	name
405872925	CV3400234	single nucleotide variant	NM_001378743.1(CYLD):c.1949T>A (p.Ile650Lys)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575739]	uncertain significance	16	50784451	50784451	Human	1	name
405872929	CV3400236	single nucleotide variant	NM_001378743.1(CYLD):c.2512G>A (p.Val838Met)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575741]	uncertain significance	16	50794254	50794254	Human	1	name
405872930	CV3400237	single nucleotide variant	NM_001378743.1(CYLD):c.2482C>T (p.Pro828Ser)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575742]	uncertain significance	16	50794224	50794224	Human	1	name
11614571	CV343158	single nucleotide variant	NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg)	Brooke-Spiegler syndrome [RCV000352083]\|Familial cylindromatosis [RCV000278230]\|Familial multiple trichoepitheliomata [RCV000372761]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003470312]	uncertain significance	16	50779692	50779692	Human	2	name
11617229	CV343177	single nucleotide variant	NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile)	Brooke-Spiegler syndrome [RCV000405511]\|Familial cylindromatosis [RCV000341045]\|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003470313]\|Trichoepithelioma, multiple familial, 2 [RCV000302448]	uncertain significance	16	50793660	50793660	Human	3	name
408375499	CV3509865	single nucleotide variant	NM_001378743.1(CYLD):c.2390A>G (p.Tyr797Cys)	CYLD-related disorder [RCV004748143]	likely benign	16	50793585	50793585	Human		name , trait , alternate_id
408391912	CV3523496	single nucleotide variant	NM_001378743.1(CYLD):c.2273G>A (p.Arg758Gln)	not provided [RCV004770870]	uncertain significance	16	50792628	50792628	Human		name
597672205	CV3658074	single nucleotide variant	NM_001378743.1(CYLD):c.1538G>C (p.Cys513Ser)	Inborn genetic diseases [RCV004981422]	uncertain significance	16	50781265	50781265	Human	1	name
597749506	CV3704787	single nucleotide variant	NM_001378743.1(CYLD):c.1027A>G (p.Thr343Ala)	Brooke-Spiegler syndrome [RCV005015524]	uncertain significance	16	50777830	50777830	Human	1	name
597896015	CV3740378	single nucleotide variant	NM_001378743.1(CYLD):c.1018A>G (p.Thr340Ala)	not provided [RCV005071731]	uncertain significance	16	50776274	50776274	Human		name
597963269	CV3753902	single nucleotide variant	NM_001378743.1(CYLD):c.1358C>G (p.Pro453Arg)	not provided [RCV005082206]	uncertain significance	16	50779884	50779884	Human		name
597932478	CV3786188	single nucleotide variant	NM_001378743.1(CYLD):c.1094C>A (p.Ser365Ter)	not provided [RCV005131895]	pathogenic	16	50777897	50777897	Human		name
597932918	CV3789882	single nucleotide variant	NM_001378743.1(CYLD):c.2516C>G (p.Ser839Ter)	not provided [RCV005131961]	pathogenic	16	50794258	50794258	Human		name
597933035	CV3789899	single nucleotide variant	NM_001378743.1(CYLD):c.1760T>C (p.Met587Thr)	not provided [RCV005131978]	uncertain significance	16	50782400	50782400	Human		name
597973655	CV3801189	single nucleotide variant	NM_001378743.1(CYLD):c.2498A>G (p.His833Arg)	not provided [RCV005143384]	uncertain significance	16	50794240	50794240	Human		name
597868611	CV3838858	single nucleotide variant	NM_001378743.1(CYLD):c.1919T>C (p.Leu640Pro)	not provided [RCV005176154]	uncertain significance	16	50784421	50784421	Human		name
597877659	CV3860292	single nucleotide variant	NM_001378743.1(CYLD):c.2119C>T (p.Gln707Ter)	not provided [RCV005198501]	pathogenic	16	50791568	50791568	Human		name
597877677	CV3860294	single nucleotide variant	NM_001378743.1(CYLD):c.2713C>T (p.Gln905Ter)	not provided [RCV005198503]	pathogenic	16	50796350	50796350	Human		name
598172709	CV3890613	single nucleotide variant	NM_001378743.1(CYLD):c.1787G>A (p.Gly596Asp)	Hereditary cancer-predisposing syndrome [RCV005251490]	likely pathogenic	16	50782427	50782427	Human	1	name
598237210	CV3956306	single nucleotide variant	NM_001378743.1(CYLD):c.1721A>G (p.Asn574Ser)	Inborn genetic diseases [RCV005320598]	uncertain significance	16	50782361	50782361	Human	1	name
15130006	CV785295	single nucleotide variant	NM_001378743.1(CYLD):c.2417C>T (p.Pro806Leu)	Inborn genetic diseases [RCV002548450]\|not provided [RCV000980973]	likely benign\|uncertain significance	16	50793612	50793612	Human	1	name
28890780	CV875383	single nucleotide variant	NM_001378743.1(CYLD):c.1271C>A (p.Thr424Asn)	Brooke-Spiegler syndrome [RCV001120733]\|Familial cylindromatosis [RCV001120735]\|Familial multiple trichoepitheliomata [RCV001120734]	uncertain significance	16	50779797	50779797	Human	1	name
28875235	CV875384	single nucleotide variant	NM_001378743.1(CYLD):c.1294A>C (p.Ser432Arg)	Brooke-Spiegler syndrome [RCV001120736]\|Familial cylindromatosis [RCV001120737]\|Familial multiple trichoepitheliomata [RCV001115807]	uncertain significance	16	50779820	50779820	Human	1	name
41406659	CV980522	single nucleotide variant	NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV001281091]	pathogenic	16	50791604	50791604	Human	1	name
150540350	CV1314475	deletion	NM_001378743.1(CYLD):c.454_455del (p.Leu152fs)	not provided [RCV001780905]	likely pathogenic	16	50750152	50750153	Human		name
11558849	CV262107	deletion	NM_001378743.1(CYLD):c.831_834del (p.Asp277fs)	Familial cylindromatosis [RCV000257953]\|not provided [RCV005090318]	pathogenic	16	50754339	50754342	Human	1	name
11558840	CV262109	deletion	NM_001378743.1(CYLD):c.968_977del (p.Ser323fs)	Brooke-Spiegler syndrome [RCV000257938]	pathogenic	16	50776221	50776230	Human	1	name
11558852	CV262110	duplication	NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs)	Familial cylindromatosis [RCV000257964]	pathogenic	16	50776242	50776243	Human	1	name
8558570	CV20295	microsatellite	NM_001378743.1(CYLD):c.2240_2241del (p.Glu747fs)	Familial multiple trichoepitheliomata [RCV000005569]	pathogenic	16	50791687	50791688	Human		name
11558853	CV262116	deletion	NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs)	Familial cylindromatosis [RCV000257967]	pathogenic	16	50781383	50781386	Human	1	name
11558861	CV262125	duplication	NM_001378743.1(CYLD):c.2138_2139dup (p.Phe714fs)	Brooke-Spiegler syndrome [RCV000257982]	pathogenic	16	50791586	50791587	Human	1	name
11558847	CV262127	deletion	NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs)	Brooke-Spiegler syndrome [RCV003988838]\|Familial cylindromatosis [RCV000257950]\|not provided [RCV005090320]	pathogenic	16	50792644	50792648	Human	1	name
405284022	CV3213486	deletion	NM_001378743.1(CYLD):c.2282_2283del (p.Lys761fs)	CYLD-related disorder [RCV003922067]	likely pathogenic	16	50792635	50792636	Human		name , trait , alternate_id
597911804	CV3778287	deletion	NM_001378743.1(CYLD):c.1840_1843del (p.Ser614fs)	not provided [RCV005128826]	pathogenic	16	50784340	50784343	Human		name
616939922	CV4014361	deletion	NM_001378743.1(CYLD):c.1856_1857del (p.Thr619fs)	not provided [RCV005413855]	pathogenic	16	50784358	50784359	Human		name
25317613	CV805885	deletion	NM_001378743.1(CYLD):c.1681_1682del (p.Leu561fs)	not provided [RCV001008133]	pathogenic	16	50781407	50781408	Human		name
405699336	CV3227101	indel	NM_001378743.1(CYLD):c.890_892delinsGT (p.Leu297fs)	not provided [RCV003993495]	pathogenic	16	50754401	50754403	Human		name
155803935	CV1858602	deletion	NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)	Brooke-Spiegler syndrome [RCV002462824]	likely pathogenic	16	50794358	50794358	Human	1	name
11558862	CV262131	deletion	NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer)	Familial cylindromatosis [RCV000257985]	pathogenic	16	50793584	50793585	Human	1	name
597877669	CV3860293	deletion	NM_001378743.1(CYLD):c.2288_2289del (p.Asp762_Phe763insTer)	not provided [RCV005198502]	pathogenic	16	50792642	50792643	Human		name
11558841	CV262132	deletion	NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer)	Familial cylindromatosis [RCV000257939]	pathogenic	16	50793601	50793602	Human	1	name

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