Ccdc88c Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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More than 1000 records found for search term Ccdc88c (Displaying 1000)
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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150445613	CV1278181	single nucleotide variant	NM_001080414.4(CCDC88C):c.-82G>T	not provided [RCV001707324]	benign	14	91417772	91417772	Human		name
9682028	CV167973	single nucleotide variant	NM_001080414.4(CCDC88C):c.60+8C>A	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554610]\|Spinocerebellar ataxia type 40 [RCV001554609]\|not provided [RCV001668284]\|not specified [RCV000145449]	benign	14	91417623	91417623	Human	2	name
405174882	CV2863485	single nucleotide variant	NM_001080414.4(CCDC88C):c.60+9G>A	not provided [RCV003542647]	likely benign	14	91417622	91417622	Human		name
405091476	CV2937394	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-5C>T	not provided [RCV003665274]	likely benign	14	91416843	91416843	Human		name
405087145	CV2943179	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-8C>G	not provided [RCV003664951]	likely benign	14	91416846	91416846	Human		name
405089548	CV2943428	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-8C>T	not provided [RCV003665123]	likely benign	14	91416846	91416846	Human		name
402506694	CV3039191	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-5C>G	not provided [RCV003715269]	likely benign	14	91416843	91416843	Human		name
150334894	CV1172649	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-85T>G	not provided [RCV001540295]	benign	14	91416923	91416923	Human		name
150408436	CV1182660	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-85T>C	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554608]\|Spinocerebellar ataxia type 40 [RCV001554607]	benign	14	91416923	91416923	Human	2	name
156412909	CV1887015	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-8T>C	not provided [RCV003073081]	likely benign	14	91408775	91408775	Human		name
155942485	CV1910419	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+7G>A	not provided [RCV002615729]	likely benign	14	91359635	91359635	Human		name
156408641	CV1911707	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-4G>A	not provided [RCV002607300]	likely benign	14	91342467	91342467	Human		name
156341515	CV1974127	single nucleotide variant	NM_001080414.4(CCDC88C):c.60+17C>T	not provided [RCV002601305]	likely benign	14	91417614	91417614	Human		name
156212436	CV2038795	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+7C>A	not provided [RCV002766653]	likely benign	14	91338482	91338482	Human		name
155939722	CV2119732	single nucleotide variant	NM_001080414.4(CCDC88C):c.270+7G>A	not provided [RCV002971197]	likely benign	14	91408652	91408652	Human		name
401902164	CV2810642	single nucleotide variant	NM_001080414.4(CCDC88C):c.624+8C>T	not provided [RCV003393560]	likely benign	14	91339876	91339876	Human		name
402485014	CV2855239	single nucleotide variant	NM_001080414.4(CCDC88C):c.810-1G>A	not provided [RCV003544388]	likely pathogenic	14	91338571	91338571	Human		name
402492427	CV2863020	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+9G>A	not provided [RCV003573058]	likely benign	14	91338480	91338480	Human		name
405208603	CV2870391	single nucleotide variant	NM_001080414.4(CCDC88C):c.892-7C>G	not provided [RCV003552171]	likely benign	14	91338170	91338170	Human		name
405172150	CV2897496	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-9C>T	not provided [RCV003563150]	likely benign	14	91342472	91342472	Human		name
402467204	CV2910282	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-16G>T	not provided [RCV003569562]	likely benign	14	91416854	91416854	Human		name
405168949	CV2911620	single nucleotide variant	NM_001080414.4(CCDC88C):c.270+9A>G	not provided [RCV003562920]	likely benign	14	91408650	91408650	Human		name
402486417	CV2944855	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+7G>T	not provided [RCV003659921]	likely benign	14	91359635	91359635	Human		name
405153938	CV2950585	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-7C>T	not provided [RCV003670187]	likely benign	14	91408774	91408774	Human		name
405119486	CV2957528	single nucleotide variant	NM_001080414.4(CCDC88C):c.161+1G>A	not provided [RCV003667288]	likely pathogenic	14	91416737	91416737	Human		name
405135328	CV2957935	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-9C>G	not provided [RCV003672704]	likely benign	14	91339471	91339471	Human		name
405125830	CV2958399	duplication	NM_001080414.4(CCDC88C):c.61-10dup	not provided [RCV003667911]	benign	14	91416847	91416848	Human		name
405142276	CV2958639	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-8G>C	not provided [RCV003673254]	likely benign	14	91340032	91340032	Human		name
404994004	CV2999615	single nucleotide variant	NM_001080414.4(CCDC88C):c.271-6C>T	not provided [RCV003692471]	likely benign	14	91359717	91359717	Human		name
405024894	CV3002940	single nucleotide variant	NM_001080414.4(CCDC88C):c.399+7A>G	not provided [RCV003695054]	likely benign	14	91343592	91343592	Human		name
404979711	CV3009700	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-7C>A	not provided [RCV003691022]	likely benign	14	91408774	91408774	Human		name
405168516	CV3029023	single nucleotide variant	NM_001080414.4(CCDC88C):c.161+9C>T	not provided [RCV003704447]	likely benign	14	91416729	91416729	Human		name
405196322	CV3037596	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-10C>A	not provided [RCV003706885]	likely benign	14	91416848	91416848	Human		name
405236349	CV3040966	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-5C>G	not provided [RCV003712323]	likely benign	14	91408772	91408772	Human		name
405214599	CV3078360	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-9C>T	not provided [RCV003732389]	likely benign	14	91339471	91339471	Human		name
405136751	CV3115770	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+9G>A	not provided [RCV003816427]	likely benign	14	91342371	91342371	Human		name
405120826	CV3116461	single nucleotide variant	NM_001080414.4(CCDC88C):c.60+15C>A	not provided [RCV003814762]	likely benign	14	91417616	91417616	Human		name
405004080	CV3120719	single nucleotide variant	NM_001080414.4(CCDC88C):c.624+9G>A	CCDC88C-related disorder [RCV004548703]\|not provided [RCV003828322]	likely benign	14	91339875	91339875	Human	1	name , alternate_id
405202390	CV3129067	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-16G>A	not provided [RCV003822110]	likely benign	14	91416854	91416854	Human		name
404987456	CV3135554	single nucleotide variant	NM_001080414.4(CCDC88C):c.60+12T>C	not provided [RCV003826849]	likely benign	14	91417619	91417619	Human		name
405232416	CV3144628	single nucleotide variant	NM_001080414.4(CCDC88C):c.810-8C>T	not provided [RCV003853081]	likely benign	14	91338578	91338578	Human		name
405231500	CV3157355	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+8A>G	not provided [RCV003865305]	likely benign	14	91359634	91359634	Human		name
405221504	CV3157913	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-4C>T	not provided [RCV003863605]	likely benign	14	91408771	91408771	Human		name
405136425	CV3160239	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-14C>G	not provided [RCV003855054]	likely benign	14	91416852	91416852	Human		name
405212514	CV3173551	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-4G>T	not provided [RCV003862300]	likely benign	14	91342467	91342467	Human		name
405264224	CV3189905	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-7C>G	CCDC88C-related disorder [RCV004548875]	likely benign	14	91340031	91340031	Human		name , trait , alternate_id
407475794	CV3494779	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-8G>A	not specified [RCV004690680]	uncertain significance	14	91339470	91339470	Human		name
596920373	CV3534556	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-2A>G	CCDC88C-related disorder [RCV004782117]	likely pathogenic	14	91343659	91343659	Human		name , trait , alternate_id
597707686	CV3707647	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+1G>T	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009404]	likely pathogenic	14	91342379	91342379	Human	1	name
597707693	CV3707648	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+1G>T	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009405]	likely pathogenic	14	91359641	91359641	Human	1	name
597937502	CV3774703	deletion	NM_001080414.4(CCDC88C):c.625-7del	not provided [RCV005117736]	likely benign	14	91339469	91339469	Human		name
597938741	CV3775162	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+7G>A	not provided [RCV005117988]	likely benign	14	91342373	91342373	Human		name
597953809	CV3786541	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-2A>G	not provided [RCV005121632]	likely pathogenic	14	91408769	91408769	Human		name
15135946	CV744834	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+7C>T	not provided [RCV000898549]	benign\|conflicting interpretations of pathogenicity	14	91339271	91339271	Human		name
15189181	CV744836	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-5C>T	CCDC88C-related disorder [RCV004551776]\|not provided [RCV000909577]	likely benign	14	91342468	91342468	Human	1	name , alternate_id
15188683	CV745041	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+7C>T	not provided [RCV000909438]	likely benign	14	91338482	91338482	Human		name
15129261	CV745043	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+8C>T	not provided [RCV000897411]	benign\|conflicting interpretations of pathogenicity	14	91342372	91342372	Human		name
15190453	CV778307	single nucleotide variant	NM_001080414.4(CCDC88C):c.271-9T>C	not provided [RCV000954480]	likely benign	14	91359720	91359720	Human		name
15154269	CV779759	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+8G>A	not provided [RCV000968705]	benign	14	91338481	91338481	Human		name
34891814	CV906375	single nucleotide variant	NM_001080414.4(CCDC88C):c.161+5G>A	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001175305]	uncertain significance	14	91416733	91416733	Human	1	name
150447704	CV1015233	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+6T>C	Spastic ataxia [RCV001647219]	likely pathogenic	14	91307032	91307032	Human	2	name
126740986	CV1021257	single nucleotide variant	NM_001080414.4(CCDC88C):c.4768+6T>C	CCDC88C-related disorder [RCV004548182]\|Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001336140]\|not provided [RCV002546763]\|not specified [RCV005236812]	likely benign\|uncertain significance	14	91279232	91279232	Human	1	name , alternate_id
126740980	CV1021258	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-5G>A	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001336139]\|Inborn genetic diseases [RCV002547349]	uncertain significance	14	91303983	91303983	Human	2	name
150469170	CV1219029	single nucleotide variant	NM_001080414.4(CCDC88C):c.61-182G>T	not provided [RCV001614781]	benign	14	91417020	91417020	Human		name
150505943	CV1226223	single nucleotide variant	NM_001080414.4(CCDC88C):c.624+24G>T	not provided [RCV001635591]	benign	14	91339860	91339860	Human		name
150472362	CV1236327	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-47A>G	not provided [RCV001651412]	benign	14	91342510	91342510	Human		name
150510514	CV1242394	single nucleotide variant	NM_001080414.4(CCDC88C):c.1528-4G>A	not provided [RCV001660744]	benign	14	91315791	91315791	Human		name
150510759	CV1242495	single nucleotide variant	NM_001080414.4(CCDC88C):c.270+47A>G	not provided [RCV001660846]	benign	14	91408612	91408612	Human		name
150445249	CV1269404	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+34G>A	not provided [RCV001691092]	benign	14	91342346	91342346	Human		name
9682030	CV167975	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+11G>A	not provided [RCV002515953]\|not specified [RCV000145451]	benign	14	91339267	91339267	Human		name
156377872	CV1906747	single nucleotide variant	NM_001080414.4(CCDC88C):c.1666-4G>A	not provided [RCV003093024]	likely benign	14	91314154	91314154	Human		name
156086006	CV1919513	single nucleotide variant	NM_001080414.4(CCDC88C):c.4442-2A>C	not provided [RCV002591739]	likely pathogenic	14	91283519	91283519	Human		name
156222024	CV1960287	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+18C>G	not provided [RCV002575563]	benign	14	91359624	91359624	Human		name
156409353	CV1961764	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+7G>A	not provided [RCV002586791]	likely benign	14	91307031	91307031	Human		name
156356246	CV1962425	single nucleotide variant	NM_001080414.4(CCDC88C):c.2865-8T>C	not provided [RCV002581410]	likely benign	14	91308500	91308500	Human		name
156348685	CV1970710	duplication	NM_001080414.4(CCDC88C):c.271-14dup	not provided [RCV002601664]	benign	14	91359724	91359725	Human		name
156033572	CV2037103	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+16C>T	not provided [RCV002781211]	benign	14	91342364	91342364	Human		name
155941477	CV2038272	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+10C>T	not provided [RCV002775222]	likely benign	14	91339268	91339268	Human		name
156286465	CV2039266	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+8C>G	not provided [RCV002770581]	likely benign	14	91297297	91297297	Human		name
155961055	CV2040469	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+14G>A	not provided [RCV002776269]	benign	14	91359628	91359628	Human		name
155906596	CV2048210	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-14C>A	not provided [RCV002771300]	likely benign	14	91339476	91339476	Human		name
156290167	CV2111333	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-1G>C	not provided [RCV002922119]	likely pathogenic	14	91294319	91294319	Human		name
156288144	CV2192171	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+8G>A	not provided [RCV003045029]	likely benign	14	91337997	91337997	Human		name
156109764	CV2211333	duplication	NM_001080414.4(CCDC88C):c.1050+6dup	Inborn genetic diseases [RCV002707120]\|not provided [RCV003561077]	likely benign	14	91337998	91337999	Human	1	name
156339059	CV2271364	duplication	NM_001080414.4(CCDC88C):c.3635+3dup	Inborn genetic diseases [RCV002836086]	uncertain significance	14	91303697	91303698	Human	1	name
402482935	CV2860714	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+11G>T	not provided [RCV003544201]	likely benign	14	91338478	91338478	Human		name
402490002	CV2866980	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-15C>T	not provided [RCV003544806]	likely benign	14	91340039	91340039	Human		name
405218484	CV2873727	single nucleotide variant	NM_001080414.4(CCDC88C):c.1198-7G>C	not provided [RCV003553532]	likely benign	14	91324930	91324930	Human		name
402503807	CV2879749	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+7C>G	not provided [RCV003546097]	likely benign	14	91297298	91297298	Human		name
405154828	CV2894359	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+8G>T	not provided [RCV003561974]	likely benign	14	91321112	91321112	Human		name
405135753	CV2896906	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+8G>A	not provided [RCV003560394]	likely benign	14	91307030	91307030	Human		name
405200944	CV2897123	single nucleotide variant	NM_001080414.4(CCDC88C):c.2864+9C>T	not provided [RCV003565866]	likely benign	14	91309850	91309850	Human		name
405139783	CV2903629	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-18T>G	not provided [RCV003560709]	likely benign	14	91340042	91340042	Human		name
402471406	CV2904458	single nucleotide variant	NM_001080414.4(CCDC88C):c.4203-6A>C	not provided [RCV003570521]	likely benign	14	91289349	91289349	Human		name
402471518	CV2904496	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-5A>G	not provided [RCV003570539]	likely benign	14	91300075	91300075	Human		name
405222344	CV2908285	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-8C>T	not provided [RCV003568555]	likely benign	14	91303986	91303986	Human		name
402466206	CV2914594	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-4G>C	not provided [RCV003569363]	likely benign	14	91273657	91273657	Human		name
405202836	CV2918843	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-4C>G	not provided [RCV003566058]	likely benign	14	91294322	91294322	Human		name
405175463	CV2919291	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-1G>A	not provided [RCV003563415]	likely pathogenic	14	91305927	91305927	Human		name
405183866	CV2920333	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+9T>C	not provided [RCV003564261]	likely benign	14	91303692	91303692	Human		name
405196663	CV2922102	single nucleotide variant	NM_001080414.4(CCDC88C):c.1666-7C>T	not provided [RCV003565333]	likely benign	14	91314157	91314157	Human		name
405031025	CV2922405	single nucleotide variant	NM_001080414.4(CCDC88C):c.4768+1G>A	not provided [RCV003578361]	likely pathogenic	14	91279237	91279237	Human		name
405036019	CV2923638	single nucleotide variant	NM_001080414.4(CCDC88C):c.3007-7C>T	not provided [RCV003578708]	likely benign	14	91307233	91307233	Human		name
405190212	CV2924670	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-2A>G	not provided [RCV003564834]	likely pathogenic	14	91326058	91326058	Human		name
405193712	CV2925591	duplication	NM_001080414.4(CCDC88C):c.4112+6dup	not provided [RCV003565147]	likely benign	14	91294166	91294167	Human		name
402488162	CV2928502	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-20C>T	not provided [RCV003572653]	likely benign	14	91339482	91339482	Human		name
405069947	CV2933294	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+1G>A	not provided [RCV003581054]	likely pathogenic	14	91294172	91294172	Human		name
405064885	CV2937081	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-19C>G	not provided [RCV003663577]	likely benign	14	91339481	91339481	Human		name
405091316	CV2937361	single nucleotide variant	NM_001080414.4(CCDC88C):c.161+18C>T	not provided [RCV003665250]	likely benign	14	91416720	91416720	Human		name
402503772	CV2937830	single nucleotide variant	NM_001080414.4(CCDC88C):c.271-14C>G	not provided [RCV003661849]	likely benign	14	91359725	91359725	Human		name
405075739	CV2937910	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-12G>A	not provided [RCV003664203]	likely benign	14	91340036	91340036	Human		name
402522290	CV2940189	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+19C>T	not provided [RCV003663352]	likely benign	14	91339259	91339259	Human		name
402489965	CV2941710	single nucleotide variant	NM_001080414.4(CCDC88C):c.270+17T>C	not provided [RCV003660390]	likely benign	14	91408642	91408642	Human		name
405081538	CV2941852	single nucleotide variant	NM_001080414.4(CCDC88C):c.4699+9G>A	not provided [RCV003664640]	likely benign	14	91281448	91281448	Human		name
405177793	CV2952024	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-9G>T	not provided [RCV003675913]	likely benign	14	91294327	91294327	Human		name
405122318	CV2952566	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+9C>A	not provided [RCV003671558]	likely benign	14	91324770	91324770	Human		name
405138903	CV2954521	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-7C>G	not provided [RCV003672991]	likely benign	14	91300077	91300077	Human		name
405124515	CV2961550	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+9G>A	not provided [RCV003667727]	likely benign	14	91307029	91307029	Human		name
405130642	CV2962338	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-17C>T	not provided [RCV003668304]	likely benign	14	91408784	91408784	Human		name
405138917	CV2963336	single nucleotide variant	NM_001080414.4(CCDC88C):c.161+18C>A	not provided [RCV003668956]	likely benign	14	91416720	91416720	Human		name
405186744	CV2963951	deletion	NM_001080414.4(CCDC88C):c.3780-9del	not provided [RCV003676749]	likely benign	14	91297500	91297500	Human		name
405230407	CV2968061	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+17A>T	not provided [RCV003682055]	likely benign	14	91338472	91338472	Human		name
405245074	CV2972681	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-10C>T	not provided [RCV003684977]	likely benign	14	91343667	91343667	Human		name
405234311	CV2975479	single nucleotide variant	NM_001080414.4(CCDC88C):c.3780-7C>T	not provided [RCV003682669]	likely benign	14	91297498	91297498	Human		name
402507003	CV2982545	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+9C>T	not provided [RCV003689155]	likely benign	14	91315641	91315641	Human		name
405115321	CV2985680	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-7T>G	not provided [RCV003723198]	likely benign	14	91326063	91326063	Human		name
405226194	CV2989846	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+20G>C	not provided [RCV003681398]	likely benign	14	91342360	91342360	Human		name
405240602	CV2990137	single nucleotide variant	NM_001080414.4(CCDC88C):c.161+10C>G	not provided [RCV003683927]	likely benign	14	91416728	91416728	Human		name
405240348	CV2993629	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-18C>G	not provided [RCV003719020]	likely benign	14	91339480	91339480	Human		name
405250239	CV2997125	single nucleotide variant	NM_001080414.4(CCDC88C):c.4631-5C>T	not provided [RCV003721474]	likely benign	14	91281530	91281530	Human		name
402483344	CV2997978	single nucleotide variant	NM_001080414.4(CCDC88C):c.399+17G>C	not provided [RCV003686770]	likely benign	14	91343582	91343582	Human		name
405019747	CV3001795	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-16T>C	not provided [RCV003694657]	likely benign	14	91343673	91343673	Human		name
405240745	CV3003501	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-14C>T	not provided [RCV003719061]	likely benign	14	91339476	91339476	Human		name
405249174	CV3003803	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+14T>C	not provided [RCV003721194]	likely benign	14	91339264	91339264	Human		name
405241738	CV3004691	single nucleotide variant	NM_001080414.4(CCDC88C):c.271-16C>G	not provided [RCV003719240]	likely benign	14	91359727	91359727	Human		name
402523159	CV3005061	single nucleotide variant	NM_001080414.4(CCDC88C):c.4442-2A>G	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005013098]\|not provided [RCV003690339]	likely pathogenic	14	91283519	91283519	Human	1	name
402497514	CV3005880	single nucleotide variant	NM_001080414.4(CCDC88C):c.271-19T>C	not provided [RCV003688064]	likely benign	14	91359730	91359730	Human		name
405034300	CV3009347	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+20T>G	not provided [RCV003695745]	likely benign	14	91339258	91339258	Human		name
405036301	CV3016626	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-17T>C	not provided [RCV003695899]	likely benign	14	91339479	91339479	Human		name
405038375	CV3016957	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-16C>T	not provided [RCV003696063]	likely benign	14	91339478	91339478	Human		name
405045946	CV3017835	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-2A>C	not provided [RCV003696657]	likely pathogenic	14	91300072	91300072	Human		name
405163259	CV3017859	single nucleotide variant	NM_001080414.4(CCDC88C):c.3780-8T>G	not provided [RCV003704050]	likely benign	14	91297499	91297499	Human		name
405124887	CV3021153	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-6C>T	not provided [RCV003701094]	likely benign	14	91303984	91303984	Human		name
405161681	CV3021555	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+16T>C	not provided [RCV003703962]	likely benign	14	91359626	91359626	Human		name
405145498	CV3027388	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-14G>A	not provided [RCV003702837]	likely benign	14	91342477	91342477	Human		name
405154599	CV3027897	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+7G>A	not provided [RCV003703445]	likely benign	14	91305758	91305758	Human		name
405156066	CV3028041	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-17G>T	not provided [RCV003703548]	likely benign	14	91340041	91340041	Human		name
405199142	CV3032842	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+17G>T	not provided [RCV003707215]	likely benign	14	91342363	91342363	Human		name
402499025	CV3038201	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+8C>T	not provided [RCV003714472]	likely benign	14	91303693	91303693	Human		name
402505972	CV3038850	single nucleotide variant	NM_001080414.4(CCDC88C):c.270+20C>T	not provided [RCV003715059]	likely benign	14	91408639	91408639	Human		name
405085298	CV3047022	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-9C>T	CCDC88C-related disorder [RCV004554296]\|not provided [RCV003717318]	likely benign	14	91300079	91300079	Human	1	name , alternate_id
405185531	CV3061828	single nucleotide variant	NM_001080414.4(CCDC88C):c.270+10G>T	not provided [RCV003729110]	likely benign	14	91408649	91408649	Human		name
405212941	CV3063206	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-5T>C	not provided [RCV003732189]	likely benign	14	91309991	91309991	Human		name
405206140	CV3068343	single nucleotide variant	NM_001080414.4(CCDC88C):c.624+10C>T	not provided [RCV003731334]	likely benign	14	91339874	91339874	Human		name
405231364	CV3073361	single nucleotide variant	NM_001080414.4(CCDC88C):c.2865-4C>T	not provided [RCV003734853]	likely benign	14	91308496	91308496	Human		name
405238193	CV3077758	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-5C>T	not provided [RCV003736232]	likely benign	14	91273658	91273658	Human		name
405119988	CV3116212	single nucleotide variant	NM_001080414.4(CCDC88C):c.810-14T>A	not provided [RCV003814702]	likely benign	14	91338584	91338584	Human		name
405209243	CV3117233	single nucleotide variant	NM_001080414.4(CCDC88C):c.3007-4G>T	not provided [RCV003823020]	likely benign	14	91307230	91307230	Human		name
405102916	CV3119484	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+9G>A	not provided [RCV003811746]	likely benign	14	91289096	91289096	Human		name
405165046	CV3125321	single nucleotide variant	NM_001080414.4(CCDC88C):c.809+18T>G	not provided [RCV003818593]	likely benign	14	91339260	91339260	Human		name
405139932	CV3125514	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+12G>A	not provided [RCV003816621]	benign	14	91338477	91338477	Human		name
405123460	CV3126350	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-18C>T	not provided [RCV003815102]	likely benign	14	91339480	91339480	Human		name
405012666	CV3128133	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-16G>A	not provided [RCV003829013]	likely benign	14	91408783	91408783	Human		name
405012867	CV3128163	single nucleotide variant	NM_001080414.4(CCDC88C):c.271-15C>T	not provided [RCV003829043]	likely benign	14	91359726	91359726	Human		name
405203459	CV3129342	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+7G>A	not provided [RCV003822195]	likely benign	14	91299920	91299920	Human		name
405018096	CV3135268	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+11G>A	not provided [RCV003829539]	likely benign	14	91338478	91338478	Human		name
404988527	CV3135569	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-15T>C	not provided [RCV003826864]	likely benign	14	91342478	91342478	Human		name
402517417	CV3135822	single nucleotide variant	NM_001080414.4(CCDC88C):c.340+13C>T	not provided [RCV003824448]	likely benign	14	91359629	91359629	Human		name
405212619	CV3142693	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+1G>A	not provided [RCV003846050]	likely pathogenic	14	91299926	91299926	Human		name
405231390	CV3144414	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-19C>T	not provided [RCV003852867]	likely benign	14	91408786	91408786	Human		name
405211835	CV3146351	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-14C>T	not provided [RCV003845882]	likely benign	14	91343671	91343671	Human		name
405061353	CV3148279	single nucleotide variant	NM_001080414.4(CCDC88C):c.891+10G>A	not provided [RCV003850235]	likely benign	14	91338479	91338479	Human		name
405191719	CV3149686	single nucleotide variant	NM_001080414.4(CCDC88C):c.810-17C>T	not provided [RCV003843412]	likely benign	14	91338587	91338587	Human		name
405053302	CV3151038	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+9C>G	not provided [RCV003849642]	likely benign	14	91337996	91337996	Human		name
405175447	CV3151930	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+9G>A	not provided [RCV003858081]	likely benign	14	91294164	91294164	Human		name
405147695	CV3152042	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+7C>T	not provided [RCV003856013]	likely benign	14	91321113	91321113	Human		name
405148034	CV3152055	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+9C>A	not provided [RCV003856026]	likely benign	14	91337996	91337996	Human		name
405189090	CV3156613	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-13T>C	not provided [RCV003859491]	likely benign	14	91340037	91340037	Human		name
405189468	CV3156662	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-5G>C	not provided [RCV003859540]	likely benign	14	91303983	91303983	Human		name
405232364	CV3157487	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-20G>A	not provided [RCV003865437]	likely benign	14	91343677	91343677	Human		name
405233881	CV3157979	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-10C>T	not provided [RCV003865735]	likely benign	14	91339472	91339472	Human		name
405167253	CV3160542	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+17G>A	not provided [RCV003857422]	likely benign	14	91342363	91342363	Human		name
405129781	CV3163270	single nucleotide variant	NM_001080414.4(CCDC88C):c.625-11C>T	not provided [RCV003854451]	likely benign	14	91339473	91339473	Human		name
405205163	CV3165576	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-19T>A	not provided [RCV003861242]	likely benign	14	91343676	91343676	Human		name
405234953	CV3168495	single nucleotide variant	NM_001080414.4(CCDC88C):c.341-12C>T	not provided [RCV003865969]	likely benign	14	91343669	91343669	Human		name
402500970	CV3170510	single nucleotide variant	NM_001080414.4(CCDC88C):c.1197+8A>G	not provided [RCV003877883]	likely benign	14	91325902	91325902	Human		name
402520429	CV3175321	single nucleotide variant	NM_001080414.4(CCDC88C):c.400-10C>T	not provided [RCV003879604]	likely benign	14	91342473	91342473	Human		name
405229555	CV3180480	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+8C>T	not provided [RCV003864901]	likely benign	14	91289097	91289097	Human		name
405250562	CV3180660	single nucleotide variant	NM_001080414.4(CCDC88C):c.892-18C>T	not provided [RCV003869937]	likely benign	14	91338181	91338181	Human		name
597707490	CV3707626	single nucleotide variant	NM_001080414.4(CCDC88C):c.4768+1G>T	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009384]	likely pathogenic	14	91279237	91279237	Human	1	name
597707569	CV3707636	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-2A>C	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009392]\|not provided [RCV005112585]	likely pathogenic	14	91303980	91303980	Human	1	name
597707587	CV3707638	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+1G>T	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009394]	likely pathogenic	14	91307037	91307037	Human	1	name
597852952	CV3743453	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+16C>A	not provided [RCV005060803]	likely benign	14	91342364	91342364	Human		name
597878350	CV3744364	single nucleotide variant	NM_001080414.4(CCDC88C):c.483+14C>A	not provided [RCV005069578]	likely benign	14	91342366	91342366	Human		name
597884287	CV3745457	single nucleotide variant	NM_001080414.4(CCDC88C):c.1528-5T>C	not provided [RCV005070293]	likely benign	14	91315792	91315792	Human		name
597951254	CV3765361	single nucleotide variant	NM_001080414.4(CCDC88C):c.162-18T>C	not provided [RCV005121005]	likely benign	14	91408785	91408785	Human		name
597958285	CV3814793	duplication	NM_001080414.4(CCDC88C):c.271-19dup	not provided [RCV005162918]	benign	14	91359729	91359730	Human		name
597976183	CV3829194	single nucleotide variant	NM_001080414.4(CCDC88C):c.4631-1G>C	not provided [RCV005169643]	likely pathogenic	14	91281526	91281526	Human		name
8604401	CV48459	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+1G>A	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV000033087]	pathogenic	14	91277921	91277921	Human	1	name
13528987	CV508883	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+9C>T	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV000614514]\|not provided [RCV000907660]	likely benign	14	91337996	91337996	Human	1	name
15200866	CV730963	single nucleotide variant	NM_001080414.4(CCDC88C):c.1666-5C>T	CCDC88C-related disorder [RCV004550076]\|not provided [RCV000891030]	likely benign	14	91314155	91314155	Human	1	name , alternate_id
15196308	CV730964	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+8C>T	not provided [RCV000889741]	benign	14	91315642	91315642	Human		name
15181374	CV744713	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-4G>A	not provided [RCV000907569]	likely benign	14	91273657	91273657	Human		name
15119129	CV744717	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-6C>G	not provided [RCV000895668]\|not specified [RCV005056664]	likely benign\|uncertain significance	14	91303984	91303984	Human		name
15175895	CV745029	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+6C>T	not provided [RCV000906315]	likely benign	14	91305759	91305759	Human		name
15121898	CV745039	single nucleotide variant	NM_001080414.4(CCDC88C):c.1343-9T>C	not provided [RCV000896147]	likely benign	14	91321313	91321313	Human		name
15118537	CV760127	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-4A>G	not provided [RCV000917992]	likely benign	14	91300074	91300074	Human		name
15114355	CV760128	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+9C>T	CCDC88C-related disorder [RCV004551824]\|not provided [RCV000917262]	likely benign	14	91324770	91324770	Human	1	name , alternate_id
15113683	CV760324	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+9C>T	not provided [RCV000917142]	likely benign	14	91299918	91299918	Human		name
15198438	CV760357	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-5C>T	not provided [RCV000912259]	likely benign	14	91291089	91291089	Human		name
15130989	CV779644	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+8G>A	CCDC88C-related disorder [RCV004553456]\|not provided [RCV000964528]	likely benign\|conflicting interpretations of pathogenicity	14	91321112	91321112	Human	1	name , alternate_id
150408079	CV1182658	single nucleotide variant	NM_001080414.4(CCDC88C):c.4630+78G>T	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554598]\|Spinocerebellar ataxia type 40 [RCV001554381]\|not provided [RCV001655896]	benign	14	91283251	91283251	Human	2	name
150515681	CV1216290	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+39C>T	not provided [RCV001608481]	benign	14	91305726	91305726	Human		name
150474881	CV1217867	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+82A>G	not provided [RCV001615878]	benign	14	91312998	91312998	Human		name
150457126	CV1219577	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+20G>C	not provided [RCV001612792]	benign	14	91313060	91313060	Human		name
150461576	CV1234796	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-39A>C	not provided [RCV001649378]	benign	14	91305965	91305965	Human		name
150457877	CV1237136	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-220A>G	not provided [RCV001648815]	benign	14	91340244	91340244	Human		name
150470101	CV1243270	single nucleotide variant	NM_001080414.4(CCDC88C):c.4631-50G>A	not provided [RCV001650791]	benign	14	91281575	91281575	Human		name
150483687	CV1246992	single nucleotide variant	NM_001080414.4(CCDC88C):c.1198-34A>G	not provided [RCV001673488]	benign	14	91324957	91324957	Human		name
150445032	CV1249507	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+43T>C	not provided [RCV001666940]	benign	14	91321077	91321077	Human		name
150489816	CV1250923	single nucleotide variant	NM_001080414.4(CCDC88C):c.484-144C>A	not provided [RCV001674590]	benign	14	91340168	91340168	Human		name
150471044	CV1258726	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+33C>G	not provided [RCV001684272]	benign	14	91277889	91277889	Human		name
150461860	CV1263283	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+16C>T	not provided [RCV001682280]	benign	14	91313064	91313064	Human		name
150492735	CV1268301	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-95G>A	not provided [RCV001688033]	benign	14	91310081	91310081	Human		name
150461308	CV1270632	single nucleotide variant	NM_001080414.4(CCDC88C):c.4631-36C>T	not provided [RCV001693622]	benign	14	91281561	91281561	Human		name
150553920	CV1309597	single nucleotide variant	NM_001080414.4(CCDC88C):c.3007-13G>T	not provided [RCV003238642]	uncertain significance	14	91307239	91307239	Human		name
152035230	CV1670112	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-19C>T	not provided [RCV002223646]	conflicting interpretations of pathogenicity\|uncertain significance	14	91291103	91291103	Human		name
9682017	CV167962	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-14C>T	not provided [RCV001682844]\|not specified [RCV000145438]	benign	14	91300084	91300084	Human		name
9682018	CV167963	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+12G>A	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554600]\|Spinocerebellar ataxia type 40 [RCV001554599]\|not provided [RCV001682845]\|not specified [RCV000145439]	benign	14	91297293	91297293	Human	2	name
156372854	CV1953392	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+16G>A	not provided [RCV002582564]	likely benign	14	91337989	91337989	Human		name
156389795	CV1955226	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+11C>T	not provided [RCV002583765]	likely benign	14	91297294	91297294	Human		name
156409342	CV1961760	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+16C>A	not provided [RCV002586788]	likely benign	14	91299911	91299911	Human		name
156185427	CV1964599	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+19C>T	not provided [RCV002574243]	likely benign	14	91313061	91313061	Human		name
156349533	CV1978170	single nucleotide variant	NM_001080414.4(CCDC88C):c.1343-16T>C	not provided [RCV002601724]	likely benign	14	91321320	91321320	Human		name
156399465	CV1984912	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+12C>T	not provided [RCV002605460]	likely benign	14	91299915	91299915	Human		name
155956333	CV2010456	duplication	NM_001080414.4(CCDC88C):c.1050+16dup	not provided [RCV002686284]	likely benign\|uncertain significance	14	91337988	91337989	Human		name
156395014	CV2015963	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-11C>T	not provided [RCV002725463]	likely benign	14	91305937	91305937	Human		name
155957921	CV2040257	single nucleotide variant	NM_001080414.4(CCDC88C):c.1197+13G>A	not provided [RCV002776115]	benign	14	91325897	91325897	Human		name
155960657	CV2040447	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+13C>T	not provided [RCV002776252]	benign	14	91305752	91305752	Human		name
156022097	CV2040718	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-19G>A	not provided [RCV002795636]	benign	14	91326075	91326075	Human		name
155954894	CV2043959	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+20G>A	not provided [RCV002775969]	benign	14	91324759	91324759	Human		name
156015623	CV2044009	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-12C>A	not provided [RCV002795333]	benign	14	91303990	91303990	Human		name
156219579	CV2047833	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-15C>T	not provided [RCV002790577]	benign	14	91305941	91305941	Human		name
155905977	CV2048144	single nucleotide variant	NM_001080414.4(CCDC88C):c.4202+16T>G	not provided [RCV002771266]	benign	14	91290979	91290979	Human		name
402488396	CV2865523	single nucleotide variant	NM_001080414.4(CCDC88C):c.1343-19G>A	not provided [RCV003544591]	likely benign	14	91321323	91321323	Human		name
405220555	CV2904193	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+19A>G	not provided [RCV003568320]	likely benign	14	91315631	91315631	Human		name
405136647	CV2906949	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+14G>A	not provided [RCV003560457]	likely benign	14	91324765	91324765	Human		name
405171399	CV2911941	single nucleotide variant	NM_001080414.4(CCDC88C):c.4442-17G>A	not provided [RCV003563072]	likely benign	14	91283534	91283534	Human		name
405171423	CV2911979	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+12C>A	not provided [RCV003563084]	likely benign	14	91315638	91315638	Human		name
402465987	CV2913818	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+10G>C	not provided [RCV003569288]	likely benign	14	91303691	91303691	Human		name
402464387	CV2920079	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-13T>G	not provided [RCV003568969]	likely benign	14	91326069	91326069	Human		name
405191241	CV2924589	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-10A>G	not provided [RCV003564799]	likely benign	14	91291094	91291094	Human		name
405214407	CV2925077	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+19A>G	not provided [RCV003567551]	likely benign	14	91294154	91294154	Human		name
405194487	CV2925619	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+16C>T	not provided [RCV003565161]	likely benign	14	91289089	91289089	Human		name
402499618	CV2926612	single nucleotide variant	NM_001080414.4(CCDC88C):c.4630+12G>A	not provided [RCV003573764]	likely benign	14	91283317	91283317	Human		name
402499729	CV2926622	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+11C>T	not provided [RCV003573770]	likely benign	14	91305754	91305754	Human		name
405064169	CV2927281	single nucleotide variant	NM_001080414.4(CCDC88C):c.3780-14T>C	not provided [RCV003580671]	likely benign	14	91297505	91297505	Human		name
405006072	CV2929446	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-10C>T	not provided [RCV003576297]	likely benign	14	91300080	91300080	Human		name
405068647	CV2936711	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-13C>T	not provided [RCV003659181]	likely benign	14	91305939	91305939	Human		name
405091169	CV2937354	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-17C>T	not provided [RCV003665245]	likely benign	14	91279323	91279323	Human		name
402502989	CV2937709	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-11C>T	not provided [RCV003661777]	likely benign	14	91273664	91273664	Human		name
405100326	CV2938028	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-20G>A	not provided [RCV003665771]	likely benign	14	91294338	91294338	Human		name
405065771	CV2940023	single nucleotide variant	NM_001080414.4(CCDC88C):c.4631-18G>A	not provided [RCV003659087]	likely benign	14	91281543	91281543	Human		name
405079030	CV2945363	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+16A>G	not provided [RCV003664412]	likely benign	14	91315634	91315634	Human		name
405080935	CV2945640	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-11T>G	not provided [RCV003664586]	likely benign	14	91291095	91291095	Human		name
405085103	CV2946348	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-20C>A	not provided [RCV003664765]	likely benign	14	91300090	91300090	Human		name
405093875	CV2947104	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+10T>A	not provided [RCV003665405]	likely benign	14	91315640	91315640	Human		name
405114482	CV2948802	single nucleotide variant	NM_001080414.4(CCDC88C):c.4442-18T>C	not provided [RCV003666684]	likely benign	14	91283535	91283535	Human		name
402491417	CV2948911	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+13G>A	not provided [RCV003660440]	likely benign	14	91299914	91299914	Human		name
405153074	CV2949169	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-10G>A	not provided [RCV003674074]	likely benign	14	91305936	91305936	Human		name
405133700	CV2950041	deletion	NM_001080414.4(CCDC88C):c.3967-18del	not provided [RCV003672523]	likely benign	14	91294336	91294336	Human		name
405162463	CV2950399	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-10C>G	not provided [RCV003674727]	likely benign	14	91303988	91303988	Human		name
405115273	CV2953031	single nucleotide variant	NM_001080414.4(CCDC88C):c.2864+11C>G	not provided [RCV003666785]	likely benign	14	91309848	91309848	Human		name
405132389	CV2953823	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+10C>T	not provided [RCV003672454]	likely benign	14	91313070	91313070	Human		name
405160565	CV2954966	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-15C>A	not provided [RCV003670594]	likely benign	14	91305941	91305941	Human		name
405174148	CV2955419	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+15A>T	not provided [RCV003675625]	likely benign	14	91303686	91303686	Human		name
405174163	CV2955420	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+13G>A	not provided [RCV003675626]	likely benign	14	91303688	91303688	Human		name
405151158	CV2956946	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+12C>T	not provided [RCV003669992]	likely benign	14	91313068	91313068	Human		name
405128177	CV2957111	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-20C>T	not provided [RCV003672083]	likely benign	14	91310006	91310006	Human		name
405134232	CV2959391	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+10G>C	not provided [RCV003668605]	likely benign	14	91297295	91297295	Human		name
405171821	CV2961250	single nucleotide variant	NM_001080414.4(CCDC88C):c.4769-17C>T	not provided [RCV003675405]	likely benign	14	91278228	91278228	Human		name
405138079	CV2963223	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-20G>C	not provided [RCV003668893]	likely benign	14	91303998	91303998	Human		name
405228023	CV2963655	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-12T>G	not provided [RCV003681711]	likely benign	14	91273665	91273665	Human		name
405188370	CV2964087	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+15C>T	not provided [RCV003676821]	likely benign	14	91294158	91294158	Human		name
405230595	CV2964313	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-15G>A	not provided [RCV003682121]	likely benign	14	91279321	91279321	Human		name
405211507	CV2966888	deletion	NM_001080414.4(CCDC88C):c.5059-11del	not provided [RCV003679393]	likely benign	14	91273664	91273664	Human		name
405211525	CV2966889	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-12T>A	not provided [RCV003679394]	likely benign	14	91273665	91273665	Human		name
405242928	CV2967382	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+18A>T	not provided [RCV003684397]	likely benign	14	91303683	91303683	Human		name
405243882	CV2971678	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+20C>G	not provided [RCV003684647]	likely benign	14	91299907	91299907	Human		name
405229048	CV2973715	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+13G>T	not provided [RCV003681851]	likely benign	14	91337992	91337992	Human		name
405188531	CV2974203	single nucleotide variant	NM_001080414.4(CCDC88C):c.4203-16A>T	not provided [RCV003676983]	likely benign	14	91289359	91289359	Human		name
405236183	CV2976623	single nucleotide variant	NM_001080414.4(CCDC88C):c.4203-15T>C	not provided [RCV003683038]	likely benign	14	91289358	91289358	Human		name
405247787	CV2976859	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+12G>A	not provided [RCV003685757]	likely benign	14	91307026	91307026	Human		name
405254773	CV2978057	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-17G>A	not provided [RCV003723099]	likely benign	14	91300087	91300087	Human		name
405201286	CV2978842	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+19A>G	not provided [RCV003678137]	likely benign	14	91337986	91337986	Human		name
404985104	CV2983088	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+16C>G	not provided [RCV003691665]	likely benign	14	91289089	91289089	Human		name
405193295	CV2984785	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-14C>T	not provided [RCV003706480]	likely benign	14	91310000	91310000	Human		name
405233368	CV2985530	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+20G>C	not provided [RCV003711845]	likely benign	14	91337985	91337985	Human		name
405238809	CV2986798	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-13C>T	not provided [RCV003683509]	likely benign	14	91273666	91273666	Human		name
404984168	CV2989663	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+14C>G	not provided [RCV003691542]	likely benign	14	91297291	91297291	Human		name
402489739	CV2995627	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+19A>C	not provided [RCV003687335]	likely benign	14	91303682	91303682	Human		name
405206098	CV2997768	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-11T>C	not provided [RCV003678690]	likely benign	14	91279317	91279317	Human		name
404988382	CV2998434	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-20C>T	not provided [RCV003692011]	likely benign	14	91305946	91305946	Human		name
405120958	CV3003944	single nucleotide variant	NM_001080414.4(CCDC88C):c.4769-12C>G	not provided [RCV003723885]	likely benign	14	91278223	91278223	Human		name
402497999	CV3005835	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-20A>G	not provided [RCV003688042]	likely benign	14	91279326	91279326	Human		name
404980793	CV3006165	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-13C>T	not provided [RCV003691176]	likely benign	14	91279319	91279319	Human		name
405041832	CV3007362	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+16C>T	not provided [RCV003696283]	likely benign	14	91294157	91294157	Human		name
405006158	CV3010020	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-17G>A	not provided [RCV003693551]	likely benign	14	91294335	91294335	Human		name
402502547	CV3010646	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+11C>T	not provided [RCV003688565]	likely benign	14	91315639	91315639	Human		name
402521324	CV3011177	single nucleotide variant	NM_001080414.4(CCDC88C):c.4699+19G>A	not provided [RCV003716453]	likely benign	14	91281438	91281438	Human		name
402522170	CV3011206	single nucleotide variant	NM_001080414.4(CCDC88C):c.2864+19T>C	not provided [RCV003716468]	likely benign	14	91309840	91309840	Human		name
402522936	CV3011287	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+20A>G	not provided [RCV003716504]	likely benign	14	91277902	91277902	Human		name
402491173	CV3011801	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+11G>A	not provided [RCV003687486]	likely benign	14	91299916	91299916	Human		name
405031023	CV3012588	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+16C>G	not provided [RCV003695499]	likely benign	14	91313064	91313064	Human		name
402500315	CV3012969	single nucleotide variant	NM_001080414.4(CCDC88C):c.4203-17C>T	not provided [RCV003688369]	likely benign	14	91289360	91289360	Human		name
405047144	CV3014259	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-15G>A	not provided [RCV003696709]	likely benign	14	91326071	91326071	Human		name
405047159	CV3014263	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-10T>G	not provided [RCV003696711]	likely benign	14	91326066	91326066	Human		name
405002837	CV3015317	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-19C>T	not provided [RCV003693248]	likely benign	14	91303997	91303997	Human		name
402498854	CV3015990	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+13A>T	not provided [RCV003688283]	likely benign	14	91313067	91313067	Human		name
405116386	CV3019380	single nucleotide variant	NM_001080414.4(CCDC88C):c.3358-10C>T	not provided [RCV003700185]	likely benign	14	91303988	91303988	Human		name
405123108	CV3020852	single nucleotide variant	NM_001080414.4(CCDC88C):c.4630+10A>G	not provided [RCV003700875]	likely benign	14	91283319	91283319	Human		name
405161014	CV3021449	single nucleotide variant	NM_001080414.4(CCDC88C):c.3006+11A>T	not provided [RCV003703905]	likely benign	14	91308340	91308340	Human		name
405176334	CV3023662	single nucleotide variant	NM_001080414.4(CCDC88C):c.3966+14C>T	not provided [RCV003705061]	likely benign	14	91297291	91297291	Human		name
405172995	CV3026658	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+15T>C	not provided [RCV003704793]	likely benign	14	91337990	91337990	Human		name
405084901	CV3028246	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+10T>C	not provided [RCV003699306]	likely benign	14	91315640	91315640	Human		name
405184380	CV3032004	single nucleotide variant	NM_001080414.4(CCDC88C):c.5059-10T>C	not provided [RCV003705790]	likely benign	14	91273663	91273663	Human		name
405204741	CV3033419	deletion	NM_001080414.4(CCDC88C):c.4630+15del	not provided [RCV003707778]	likely benign	14	91283314	91283314	Human		name
405205491	CV3033613	single nucleotide variant	NM_001080414.4(CCDC88C):c.2865-11G>T	not provided [RCV003707880]	likely benign	14	91308503	91308503	Human		name
405224323	CV3035943	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-13G>A	not provided [RCV003710432]	likely benign	14	91294331	91294331	Human		name
405224949	CV3035996	single nucleotide variant	NM_001080414.4(CCDC88C):c.4203-16A>C	not provided [RCV003710474]	likely benign	14	91289359	91289359	Human		name
402484706	CV3036727	single nucleotide variant	NM_001080414.4(CCDC88C):c.1528-20T>C	not provided [RCV003713106]	likely benign	14	91315807	91315807	Human		name
405185053	CV3040206	single nucleotide variant	NM_001080414.4(CCDC88C):c.1198-20C>T	not provided [RCV003705858]	likely benign	14	91324943	91324943	Human		name
402510986	CV3042584	single nucleotide variant	NM_001080414.4(CCDC88C):c.3780-18T>C	not provided [RCV003715671]	likely benign	14	91297509	91297509	Human		name
405253297	CV3044262	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+10G>T	not provided [RCV003722423]	likely benign	14	91305755	91305755	Human		name
405246884	CV3048135	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+10G>A	not provided [RCV003720557]	likely benign	14	91294163	91294163	Human		name
405122333	CV3116631	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+16C>T	not provided [RCV003814933]	likely benign	14	91299911	91299911	Human		name
405205585	CV3117016	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-16T>A	not provided [RCV003822500]	likely benign	14	91326072	91326072	Human		name
405209001	CV3117196	single nucleotide variant	NM_001080414.4(CCDC88C):c.3780-10C>T	not provided [RCV003822983]	likely benign	14	91297501	91297501	Human		name
405212021	CV3117830	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+17C>T	not provided [RCV003823429]	likely benign	14	91277905	91277905	Human		name
405212823	CV3117927	single nucleotide variant	NM_001080414.4(CCDC88C):c.3007-15T>C	not provided [RCV003823526]	likely benign	14	91307241	91307241	Human		name
405212865	CV3117935	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+19A>G	not provided [RCV003823534]	likely benign	14	91305746	91305746	Human		name
405112498	CV3118560	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+13G>A	not provided [RCV003813788]	likely benign	14	91307025	91307025	Human		name
404981849	CV3121157	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-18T>C	not provided [RCV003826149]	likely benign	14	91294336	91294336	Human		name
405172823	CV3122819	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+19G>A	not provided [RCV003819217]	likely benign	14	91321101	91321101	Human		name
405175063	CV3122967	single nucleotide variant	NM_001080414.4(CCDC88C):c.4202+17G>A	not provided [RCV003819365]	likely benign	14	91290978	91290978	Human		name
405184188	CV3124073	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+18G>A	not provided [RCV003820269]\|not specified [RCV005063177]	likely benign	14	91277904	91277904	Human		name
405215965	CV3124649	single nucleotide variant	NM_001080414.4(CCDC88C):c.4631-14T>C	not provided [RCV003824011]	likely benign	14	91281539	91281539	Human		name
405162821	CV3125144	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+13G>A	not provided [RCV003818416]	likely benign	14	91289092	91289092	Human		name
405164289	CV3125268	single nucleotide variant	NM_001080414.4(CCDC88C):c.2865-15C>G	not provided [RCV003818540]	likely benign	14	91308507	91308507	Human		name
405164776	CV3125307	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-11C>G	not provided [RCV003818579]	likely benign	14	91309997	91309997	Human		name
405123131	CV3126214	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+18G>C	not provided [RCV003814966]	likely benign	14	91289087	91289087	Human		name
405125142	CV3126416	single nucleotide variant	NM_001080414.4(CCDC88C):c.4442-19A>G	not provided [RCV003815168]	likely benign	14	91283536	91283536	Human		name
405060115	CV3129478	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+12G>C	not provided [RCV003832747]	likely benign	14	91277910	91277910	Human		name
405140179	CV3130833	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+19G>C	not provided [RCV003839067]	likely benign	14	91277903	91277903	Human		name
405199157	CV3132170	single nucleotide variant	NM_001080414.4(CCDC88C):c.3006+20T>C	not provided [RCV003821763]	likely benign	14	91308331	91308331	Human		name
405111298	CV3133183	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+12G>A	not provided [RCV003836169]	likely benign	14	91277910	91277910	Human		name
405132488	CV3133468	single nucleotide variant	NM_001080414.4(CCDC88C):c.3007-16A>G	not provided [RCV003838438]	likely benign	14	91307242	91307242	Human		name
405154157	CV3135112	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-14C>A	not provided [RCV003840224]	likely benign	14	91279320	91279320	Human		name
405082929	CV3137508	single nucleotide variant	NM_001080414.4(CCDC88C):c.3006+13G>T	not provided [RCV003834217]	likely benign	14	91308338	91308338	Human		name
405053639	CV3138316	single nucleotide variant	NM_001080414.4(CCDC88C):c.4769-11C>T	not provided [RCV003832160]	likely benign	14	91278222	91278222	Human		name
405042920	CV3141179	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+20G>T	not provided [RCV003831472]	likely benign	14	91324759	91324759	Human		name
405146045	CV3141494	deletion	NM_001080414.4(CCDC88C):c.4203-18del	not provided [RCV003839611]	likely benign	14	91289361	91289361	Human		name
405151051	CV3142041	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-12A>G	not provided [RCV003839963]	likely benign	14	91279318	91279318	Human		name
405214138	CV3143042	single nucleotide variant	NM_001080414.4(CCDC88C):c.4699+10G>A	not provided [RCV003846205]	likely benign	14	91281447	91281447	Human		name
405138445	CV3144726	single nucleotide variant	NM_001080414.4(CCDC88C):c.3967-19C>T	not provided [RCV003855243]	likely benign	14	91294337	91294337	Human		name
405070904	CV3145347	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-14T>C	not provided [RCV003850932]	likely benign	14	91291098	91291098	Human		name
405208247	CV3145600	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+17G>A	not provided [RCV003845330]	likely benign	14	91324762	91324762	Human		name
405198127	CV3146743	single nucleotide variant	NM_001080414.4(CCDC88C):c.4768+12G>A	not provided [RCV003844098]	likely benign	14	91279226	91279226	Human		name
405198357	CV3146762	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+17G>A	not provided [RCV003844117]	likely benign	14	91313063	91313063	Human		name
405177420	CV3146939	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+20G>A	not provided [RCV003842035]	likely benign	14	91313060	91313060	Human		name
405062097	CV3148329	single nucleotide variant	NM_001080414.4(CCDC88C):c.3635+20G>A	not provided [RCV003850285]	likely benign	14	91303681	91303681	Human		name
405188402	CV3149199	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-13C>T	not provided [RCV003843125]	likely benign	14	91309999	91309999	Human		name
405170692	CV3151594	single nucleotide variant	NM_001080414.4(CCDC88C):c.3195+15C>T	not provided [RCV003857745]	likely benign	14	91307023	91307023	Human		name
405173635	CV3151738	single nucleotide variant	NM_001080414.4(CCDC88C):c.1198-19C>A	not provided [RCV003857889]	likely benign	14	91324942	91324942	Human		name
405142301	CV3155343	single nucleotide variant	NM_001080414.4(CCDC88C):c.5058+11C>T	not provided [RCV003855581]	likely benign	14	91277911	91277911	Human		name
405247078	CV3158614	single nucleotide variant	NM_001080414.4(CCDC88C):c.3196-19A>G	not provided [RCV003868956]	likely benign	14	91305945	91305945	Human		name
405248113	CV3159149	single nucleotide variant	NM_001080414.4(CCDC88C):c.3357+10G>A	not provided [RCV003869294]	likely benign	14	91305755	91305755	Human		name
405216517	CV3160750	single nucleotide variant	NM_001080414.4(CCDC88C):c.1528-10G>T	not provided [RCV003862812]	likely benign	14	91315797	91315797	Human		name
405216948	CV3160846	single nucleotide variant	NM_001080414.4(CCDC88C):c.1665+10T>G	not provided [RCV003862908]	likely benign	14	91315640	91315640	Human		name
405219510	CV3161351	single nucleotide variant	NM_001080414.4(CCDC88C):c.1050+11T>C	not provided [RCV003863220]	likely benign	14	91337994	91337994	Human		name
405130499	CV3163629	single nucleotide variant	NM_001080414.4(CCDC88C):c.1343-19G>C	not provided [RCV003854617]	likely benign	14	91321323	91321323	Human		name
405133258	CV3163804	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-16C>T	not provided [RCV003854792]	likely benign	14	91310002	91310002	Human		name
405134789	CV3163935	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+12G>C	not provided [RCV003854923]	likely benign	14	91294161	91294161	Human		name
405137843	CV3164374	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+15G>A	not provided [RCV003855169]	likely benign	14	91313065	91313065	Human		name
405208089	CV3166163	single nucleotide variant	NM_001080414.4(CCDC88C):c.4112+20A>G	not provided [RCV003861639]	likely benign	14	91294153	91294153	Human		name
405079675	CV3166698	single nucleotide variant	NM_001080414.4(CCDC88C):c.4202+16T>A	not provided [RCV003851472]	likely benign	14	91290979	91290979	Human		name
405082714	CV3166835	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-19C>T	not provided [RCV003851609]	likely benign	14	91279325	91279325	Human		name
405085705	CV3167317	single nucleotide variant	NM_001080414.4(CCDC88C):c.2864+14C>T	not provided [RCV003851898]	likely benign	14	91309845	91309845	Human		name
405235800	CV3168629	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-10A>T	not provided [RCV003866103]	likely benign	14	91291094	91291094	Human		name
405237326	CV3169131	single nucleotide variant	NM_001080414.4(CCDC88C):c.4442-14C>T	not provided [RCV003866410]	likely benign	14	91283531	91283531	Human		name
405226796	CV3169305	single nucleotide variant	NM_001080414.4(CCDC88C):c.4441+15C>A	not provided [RCV003864329]	likely benign	14	91289090	91289090	Human		name
405212864	CV3169759	single nucleotide variant	NM_001080414.4(CCDC88C):c.3636-19A>T	not provided [RCV003862358]	likely benign	14	91300089	91300089	Human		name
402478772	CV3170233	single nucleotide variant	NM_001080414.4(CCDC88C):c.1342+10G>A	not provided [RCV003875621]	likely benign	14	91324769	91324769	Human		name
402475913	CV3173663	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-19G>T	not provided [RCV003875201]	likely benign	14	91326075	91326075	Human		name
404991622	CV3176267	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+17G>A	not provided [RCV003881592]	likely benign	14	91299910	91299910	Human		name
404992713	CV3176369	single nucleotide variant	NM_001080414.4(CCDC88C):c.3006+12G>C	not provided [RCV003881801]	likely benign	14	91308339	91308339	Human		name
402465675	CV3177235	single nucleotide variant	NM_001080414.4(CCDC88C):c.2864+18C>T	not provided [RCV003872866]	likely benign	14	91309841	91309841	Human		name
404988987	CV3179857	single nucleotide variant	NM_001080414.4(CCDC88C):c.1051-18T>G	not provided [RCV003881334]	likely benign	14	91326074	91326074	Human		name
405002512	CV3184019	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+18G>A	not provided [RCV003882602]	benign	14	91299909	91299909	Human		name
597921235	CV3765261	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-11C>A	not provided [RCV005115278]	likely benign	14	91309997	91309997	Human		name
597943989	CV3776266	deletion	NM_001080414.4(CCDC88C):c.4699+10del	not provided [RCV005119330]	likely benign	14	91281447	91281447	Human		name
597925461	CV3788219	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+16C>A	not provided [RCV005130910]	likely benign	14	91313064	91313064	Human		name
597966062	CV3823677	single nucleotide variant	NM_001080414.4(CCDC88C):c.4768+10G>A	not provided [RCV005165097]	likely benign	14	91279228	91279228	Human		name
597898884	CV3826692	single nucleotide variant	NM_001080414.4(CCDC88C):c.1343-17C>T	not provided [RCV005180825]	likely benign	14	91321321	91321321	Human		name
15171688	CV775964	single nucleotide variant	NM_001080414.4(CCDC88C):c.3779+10G>A	not provided [RCV000927954]	benign	14	91299917	91299917	Human		name
150408434	CV1182659	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+128A>G	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554604]\|Spinocerebellar ataxia type 40 [RCV001554603]\|not provided [RCV001615324]	benign	14	91320992	91320992	Human	2	name
150505018	CV1222789	duplication	NM_001080414.4(CCDC88C):c.3635+160dup	not provided [RCV001621723]	benign	14	91303536	91303537	Human		name
150505049	CV1222796	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-221T>C	not provided [RCV001621730]	benign	14	91310207	91310207	Human		name
150515285	CV1227507	single nucleotide variant	NM_001080414.4(CCDC88C):c.4700-145G>C	not provided [RCV001638780]	benign	14	91279451	91279451	Human		name
150498521	CV1235580	single nucleotide variant	NM_001080414.4(CCDC88C):c.4113-114A>G	not provided [RCV001656263]	benign	14	91291198	91291198	Human		name
150495289	CV1241544	single nucleotide variant	NM_001080414.4(CCDC88C):c.4768+187C>T	not provided [RCV001655551]	benign	14	91279051	91279051	Human		name
150484413	CV1263172	single nucleotide variant	NM_001080414.4(CCDC88C):c.2737-104C>T	not provided [RCV001686572]	benign	14	91310090	91310090	Human		name
150453927	CV1265925	deletion	NM_001080414.4(CCDC88C):c.3780-137del	not provided [RCV001692502]	benign	14	91297628	91297628	Human		name
150460102	CV1268443	single nucleotide variant	NM_001080414.4(CCDC88C):c.2736+239G>A	not provided [RCV001693440]	benign	14	91312841	91312841	Human		name
150509159	CV1284466	single nucleotide variant	NM_001080414.4(CCDC88C):c.1527+167T>C	not provided [RCV001720574]	benign	14	91320953	91320953	Human		name
405149310	CV3142018	microsatellite	NM_001080414.4(CCDC88C):c.625-18CT[2]	not provided [RCV003839940]	likely benign	14	91339475	91339476	Human		name
8584127	CV118699	single nucleotide variant	NM_001080414.3(CCDC88C):c.4442-2674A>C	Lung cancer [RCV000099219]	uncertain significance	14	91286191	91286191	Human		name
150440355	CV1233374	microsatellite	NM_001080414.4(CCDC88C):c.3195+38GA[7]	not provided [RCV001645062]	benign	14	91306988	91306989	Human		name
405193229	CV2985729	microsatellite	NM_001080414.4(CCDC88C):c.3358-20GC[3]	not provided [RCV003706660]	likely benign	14	91303994	91303995	Human		name
405251495	CV3050011	microsatellite	NM_001080414.4(CCDC88C):c.5059-15CT[2]	not provided [RCV003721922]	likely benign	14	91273663	91273664	Human		name
405206451	CV2994264	single nucleotide variant	NM_001080414.4(CCDC88C):c.6C>T (p.Asp2=)	not provided [RCV003678798]	likely benign	14	91417685	91417685	Human		name
405038323	CV3013469	single nucleotide variant	NM_001080414.4(CCDC88C):c.9G>C (p.Val3=)	not provided [RCV003696126]	likely benign	14	91417682	91417682	Human		name
402493210	CV3182673	duplication	NM_001080414.4(CCDC88C):c.161+4_161+6dup	not provided [RCV003877160]	likely benign	14	91416731	91416732	Human		name
597707507	CV3707628	deletion	NM_001080414.4(CCDC88C):c.4113-1_4117del	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009386]	likely pathogenic	14	91291080	91291085	Human	1	name
156365895	CV1908454	deletion	NM_001080414.4(CCDC88C):c.4583_4630+11del	not provided [RCV002582061]	likely pathogenic	14	91283318	91283376	Human		name
402478459	CV2909932	single nucleotide variant	NM_001080414.4(CCDC88C):c.18G>A (p.Ser6=)	not provided [RCV003571807]	likely benign	14	91417673	91417673	Human		name
402485035	CV2944854	insertion	NM_001080414.4(CCDC88C):c.340+7_340+8insT	not provided [RCV003659920]	likely benign	14	91359634	91359635	Human		name
405133434	CV2957777	single nucleotide variant	NM_001080414.4(CCDC88C):c.18G>C (p.Ser6=)	not provided [RCV003672609]	likely benign	14	91417673	91417673	Human		name
405011036	CV3128048	single nucleotide variant	NM_001080414.4(CCDC88C):c.25C>T (p.Leu9=)	not provided [RCV003828928]	likely benign	14	91417666	91417666	Human		name
405249830	CV3180559	single nucleotide variant	NM_001080414.4(CCDC88C):c.12A>G (p.Thr4=)	not provided [RCV003869836]	likely benign	14	91417679	91417679	Human		name
15132498	CV739390	single nucleotide variant	NM_001080414.4(CCDC88C):c.21G>A (p.Glu7=)	CCDC88C-related disorder [RCV004551698]\|not provided [RCV000897967]	benign\|likely benign	14	91417670	91417670	Human	1	name , alternate_id
156374256	CV2003850	microsatellite	NM_001080414.4(CCDC88C):c.2865-9_2865-8del	not provided [RCV002653159]	likely benign	14	91308500	91308501	Human		name
156374796	CV2024578	deletion	NM_001080414.4(CCDC88C):c.4203-9_4203-7del	not provided [RCV002721824]	uncertain significance	14	91289350	91289352	Human		name
155955509	CV2040103	deletion	NM_001080414.4(CCDC88C):c.161+16_161+18del	not provided [RCV002775998]	benign	14	91416720	91416722	Human		name
405236573	CV2973476	single nucleotide variant	NM_001080414.4(CCDC88C):c.33C>T (p.Leu11=)	not provided [RCV003683182]	likely benign	14	91417658	91417658	Human		name
405200801	CV2982595	single nucleotide variant	NM_001080414.4(CCDC88C):c.57C>G (p.Thr19=)	not provided [RCV003678103]	likely benign	14	91417634	91417634	Human		name
402489668	CV2995612	deletion	NM_001080414.4(CCDC88C):c.270+12_270+14del	not provided [RCV003687323]	likely benign	14	91408645	91408647	Human		name
402522997	CV3014896	single nucleotide variant	NM_001080414.4(CCDC88C):c.51G>A (p.Leu17=)	not provided [RCV003690441]	likely benign	14	91417640	91417640	Human		name
405236243	CV3038061	microsatellite	NM_001080414.4(CCDC88C):c.161+15_161+17del	not provided [RCV003712406]	likely benign	14	91416721	91416723	Human		name
402504055	CV3041849	microsatellite	NM_001080414.4(CCDC88C):c.3196-5_3196-3del	not provided [RCV003715031]	likely benign	14	91305929	91305931	Human		name
405175661	CV3049316	single nucleotide variant	NM_001080414.4(CCDC88C):c.87C>T (p.Ser29=)	not provided [RCV003728317]	likely benign	14	91416812	91416812	Human		name
405080103	CV3050417	single nucleotide variant	NM_001080414.4(CCDC88C):c.39G>C (p.Leu13=)	not provided [RCV003717072]	likely benign	14	91417652	91417652	Human		name
405135344	CV3052087	single nucleotide variant	NM_001080414.4(CCDC88C):c.90C>T (p.Gly30=)	not provided [RCV003725189]	likely benign	14	91416809	91416809	Human		name
405043049	CV3141195	single nucleotide variant	NM_001080414.4(CCDC88C):c.36C>T (p.Phe12=)	not provided [RCV003831488]	likely benign	14	91417655	91417655	Human		name
405216405	CV3143388	single nucleotide variant	NM_001080414.4(CCDC88C):c.78G>T (p.Pro26=)	not provided [RCV003846552]	likely benign	14	91416821	91416821	Human		name
597948559	CV3772162	deletion	NM_001080414.4(CCDC88C):c.1198-9_1198-5del	not provided [RCV005120481]	likely benign	14	91324928	91324932	Human		name
15181163	CV769953	single nucleotide variant	NM_001080414.4(CCDC88C):c.37C>T (p.Leu13=)	not provided [RCV000930059]	likely benign	14	91417654	91417654	Human		name
9682001	CV167942	single nucleotide variant	NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554606]\|Spinocerebellar ataxia type 40 [RCV001554605]\|not provided [RCV001689680]\|not specified [RCV000145419]	benign	14	91416785	91416785	Human	2	name
156416111	CV1966466	single nucleotide variant	NM_001080414.4(CCDC88C):c.231T>C (p.Asn77=)	not provided [RCV002589533]	benign	14	91408698	91408698	Human		name
329360336	CV2446682	single nucleotide variant	NM_001080414.4(CCDC88C):c.22C>A (p.Leu8Ile)	Inborn genetic diseases [RCV003179843]	uncertain significance	14	91417669	91417669	Human	1	name
405135522	CV2906836	deletion	NM_001080414.4(CCDC88C):c.3195+9_3195+13del	not provided [RCV003560413]	likely benign	14	91307025	91307029	Human		name
405153422	CV2950526	single nucleotide variant	NM_001080414.4(CCDC88C):c.240C>T (p.Ile80=)	not provided [RCV003670150]	likely benign	14	91408689	91408689	Human		name
405160455	CV2954965	deletion	NM_001080414.4(CCDC88C):c.3196-13_3196-6del	not provided [RCV003670593]	likely benign	14	91305932	91305939	Human		name
405192962	CV2965021	insertion	NM_001080414.4(CCDC88C):c.5059-5_5059-4insT	not provided [RCV003677314]	likely benign	14	91273657	91273658	Human		name
402479676	CV2980350	single nucleotide variant	NM_001080414.4(CCDC88C):c.285G>A (p.Gln95=)	not provided [RCV003686330]	likely benign	14	91359697	91359697	Human		name
404988132	CV2998482	duplication	NM_001080414.4(CCDC88C):c.3358-19_3358-5dup	not provided [RCV003692031]	likely benign	14	91303982	91303983	Human		name
405181538	CV3024345	single nucleotide variant	NM_001080414.4(CCDC88C):c.183A>G (p.Gln61=)	not provided [RCV003705581]	likely benign	14	91408746	91408746	Human		name
405234486	CV3040588	single nucleotide variant	NM_001080414.4(CCDC88C):c.243G>A (p.Leu81=)	not provided [RCV003712080]	likely benign	14	91408686	91408686	Human		name
405157404	CV3065103	single nucleotide variant	NM_001080414.4(CCDC88C):c.103C>T (p.Leu35=)	not provided [RCV003726858]	likely benign	14	91416796	91416796	Human		name
405190436	CV3069838	single nucleotide variant	NM_001080414.4(CCDC88C):c.171G>A (p.Arg57=)	not provided [RCV003729670]	likely benign	14	91408758	91408758	Human		name
405049373	CV3080124	single nucleotide variant	NM_001080414.4(CCDC88C):c.252C>T (p.Asn84=)	not provided [RCV003740482]	likely benign	14	91408677	91408677	Human		name
405203992	CV3116816	single nucleotide variant	NM_001080414.4(CCDC88C):c.189C>T (p.Ile63=)	not provided [RCV003822300]	likely benign	14	91408740	91408740	Human		name
405189582	CV3117960	single nucleotide variant	NM_001080414.4(CCDC88C):c.129C>T (p.Asp43=)	not provided [RCV003820870]	likely benign	14	91416770	91416770	Human		name
405219592	CV3154271	single nucleotide variant	NM_001080414.4(CCDC88C):c.267C>T (p.Tyr89=)	not provided [RCV003846963]	likely benign	14	91408662	91408662	Human		name
402471101	CV3171487	single nucleotide variant	NM_001080414.4(CCDC88C):c.261C>T (p.Thr87=)	not provided [RCV003874271]	likely benign	14	91408668	91408668	Human		name
405241744	CV3173169	single nucleotide variant	NM_001080414.4(CCDC88C):c.210T>C (p.Asp70=)	not provided [RCV003867454]	likely benign	14	91408719	91408719	Human		name
402520862	CV3179487	single nucleotide variant	NM_001080414.4(CCDC88C):c.198C>T (p.His66=)	not provided [RCV003879739]	likely benign	14	91408731	91408731	Human		name
597862057	CV3817719	single nucleotide variant	NM_001080414.4(CCDC88C):c.195G>A (p.Lys65=)	not provided [RCV005146905]	likely benign	14	91408734	91408734	Human		name
15178964	CV739389	single nucleotide variant	NM_001080414.4(CCDC88C):c.273A>G (p.Glu91=)	CCDC88C-related disorder [RCV004551760]\|not provided [RCV000906997]	likely benign	14	91359709	91359709	Human	1	name , alternate_id
126731982	CV1000880	single nucleotide variant	NM_001080414.4(CCDC88C):c.462C>T (p.Gly154=)	not provided [RCV001310715]	likely benign	14	91342401	91342401	Human		name
150435198	CV1233800	single nucleotide variant	NM_001080414.4(CCDC88C):c.627G>A (p.Leu209=)	not provided [RCV001643927]	benign	14	91339460	91339460	Human		name
150528713	CV1288459	single nucleotide variant	NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)	not provided [RCV001726927]	conflicting interpretations of pathogenicity\|uncertain significance	14	91339379	91339379	Human		name
151353749	CV1327301	single nucleotide variant	NM_001080414.4(CCDC88C):c.987G>A (p.Glu329=)	not provided [RCV002542519]\|not specified [RCV001817245]	likely benign	14	91338068	91338068	Human		name
9682031	CV167977	single nucleotide variant	NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV002505126]\|not provided [RCV000949797]\|not specified [RCV000145452]	benign\|likely benign	14	91338086	91338086	Human	1	name
9682035	CV169071	single nucleotide variant	NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=)	not provided [RCV000953001]\|not specified [RCV000145457]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91338143	91338143	Human		name
155796229	CV1861723	single nucleotide variant	NM_001080414.4(CCDC88C):c.46C>T (p.Pro16Ser)	not specified [RCV002470004]	uncertain significance	14	91417645	91417645	Human		name
155929830	CV1908847	single nucleotide variant	NM_001080414.4(CCDC88C):c.915C>T (p.Ala305=)	not provided [RCV002614937]	likely benign	14	91338140	91338140	Human		name
156442678	CV1948780	single nucleotide variant	NM_001080414.4(CCDC88C):c.834G>A (p.Val278=)	CCDC88C-related disorder [RCV004554038]\|not provided [RCV003113026]	likely benign	14	91338546	91338546	Human	1	name , alternate_id
156327784	CV1982349	single nucleotide variant	NM_001080414.4(CCDC88C):c.546G>C (p.Pro182=)	not provided [RCV002649653]	likely benign	14	91339962	91339962	Human		name
156009796	CV2011390	single nucleotide variant	NM_001080414.4(CCDC88C):c.654C>T (p.Asp218=)	not provided [RCV002690453]	likely benign	14	91339433	91339433	Human		name
155978458	CV2266519	single nucleotide variant	NM_001080414.4(CCDC88C):c.89G>A (p.Gly30Asp)	Inborn genetic diseases [RCV002818352]	uncertain significance	14	91416810	91416810	Human	1	name
405020906	CV2862569	single nucleotide variant	NM_001080414.4(CCDC88C):c.996G>C (p.Leu332=)	not provided [RCV003577569]	likely benign	14	91338059	91338059	Human		name
402475302	CV2863768	single nucleotide variant	NM_001080414.4(CCDC88C):c.586C>T (p.Leu196=)	not provided [RCV003543271]	likely benign	14	91339922	91339922	Human		name
405020783	CV2866406	deletion	NM_001080414.4(CCDC88C):c.6_12del (p.Asp2fs)	not provided [RCV003577558]	pathogenic	14	91417679	91417685	Human		name
405198072	CV2880495	duplication	NM_001080414.4(CCDC88C):c.3636-20_3636-17dup	not provided [RCV003551093]	likely benign	14	91300086	91300087	Human		name
405147700	CV2881735	single nucleotide variant	NM_001080414.4(CCDC88C):c.759C>T (p.Ala253=)	not provided [RCV003561490]	benign	14	91339328	91339328	Human		name
405125269	CV2886379	single nucleotide variant	NM_001080414.4(CCDC88C):c.994C>T (p.Leu332=)	not provided [RCV003559508]	likely benign	14	91338061	91338061	Human		name
405112732	CV2900538	single nucleotide variant	NM_001080414.4(CCDC88C):c.756G>A (p.Leu252=)	not provided [RCV003558107]	likely benign	14	91339331	91339331	Human		name
405194252	CV2925686	single nucleotide variant	NM_001080414.4(CCDC88C):c.381G>C (p.Val127=)	not provided [RCV003565201]	likely benign	14	91343617	91343617	Human		name
402505156	CV2927659	single nucleotide variant	NM_001080414.4(CCDC88C):c.390T>C (p.Cys130=)	not provided [RCV003574383]	likely benign	14	91343608	91343608	Human		name
405094650	CV2947343	single nucleotide variant	NM_001080414.4(CCDC88C):c.696C>G (p.Ser232=)	not provided [RCV003665542]	likely benign	14	91339391	91339391	Human		name
405175167	CV2951781	single nucleotide variant	NM_001080414.4(CCDC88C):c.825G>A (p.Glu275=)	not provided [RCV003675766]	likely benign	14	91338555	91338555	Human		name
405160304	CV2955109	single nucleotide variant	NM_001080414.4(CCDC88C):c.720C>T (p.Pro240=)	not provided [RCV003670680]	likely benign	14	91339367	91339367	Human		name
405173365	CV2955403	single nucleotide variant	NM_001080414.4(CCDC88C):c.934C>A (p.Arg312=)	not provided [RCV003675616]	likely benign	14	91338121	91338121	Human		name
405157559	CV2956504	single nucleotide variant	NM_001080414.4(CCDC88C):c.867G>A (p.Leu289=)	not provided [RCV003674362]	likely benign	14	91338513	91338513	Human		name
405137212	CV2963131	single nucleotide variant	NM_001080414.4(CCDC88C):c.927T>C (p.Arg309=)	not provided [RCV003668837]	likely benign	14	91338128	91338128	Human		name
405231212	CV2964581	single nucleotide variant	NM_001080414.4(CCDC88C):c.82G>A (p.Gly28Arg)	not provided [RCV003682289]	uncertain significance	14	91416817	91416817	Human		name
402507127	CV2978771	duplication	NM_001080414.4(CCDC88C):c.5059-34_5059-16dup	not provided [RCV003689169]	likely benign	14	91273668	91273669	Human		name
405200947	CV2978929	single nucleotide variant	NM_001080414.4(CCDC88C):c.936A>G (p.Arg312=)	not provided [RCV003678177]	likely benign	14	91338119	91338119	Human		name
405239549	CV2979664	single nucleotide variant	NM_001080414.4(CCDC88C):c.768G>A (p.Leu256=)	not provided [RCV003683689]	likely benign	14	91339319	91339319	Human		name
402497826	CV2988940	deletion	NM_001080414.4(CCDC88C):c.1198-16_1198-15del	not provided [RCV003714433]	likely benign	14	91324938	91324939	Human		name
405159128	CV3021303	single nucleotide variant	NM_001080414.4(CCDC88C):c.954G>A (p.Leu318=)	not provided [RCV003703836]	likely benign	14	91338101	91338101	Human		name
405091051	CV3025870	single nucleotide variant	NM_001080414.4(CCDC88C):c.441G>A (p.Leu147=)	not provided [RCV003699737]	likely benign	14	91342422	91342422	Human		name
405172906	CV3026768	single nucleotide variant	NM_001080414.4(CCDC88C):c.558G>A (p.Glu186=)	not provided [RCV003704835]	likely benign	14	91339950	91339950	Human		name
405153781	CV3027933	single nucleotide variant	NM_001080414.4(CCDC88C):c.606G>A (p.Gln202=)	not provided [RCV003703471]	likely benign	14	91339902	91339902	Human		name
405204241	CV3033355	single nucleotide variant	NM_001080414.4(CCDC88C):c.369G>T (p.Val123=)	not provided [RCV003707730]	likely benign	14	91343629	91343629	Human		name
405223771	CV3035829	single nucleotide variant	NM_001080414.4(CCDC88C):c.916C>A (p.Arg306=)	not provided [RCV003710356]	likely benign	14	91338139	91338139	Human		name
405207598	CV3037007	single nucleotide variant	NM_001080414.4(CCDC88C):c.982C>T (p.Leu328=)	not provided [RCV003708207]	likely benign	14	91338073	91338073	Human		name
405236310	CV3038078	single nucleotide variant	NM_001080414.4(CCDC88C):c.633G>A (p.Val211=)	not provided [RCV003712417]	likely benign	14	91339454	91339454	Human		name
402512598	CV3039759	single nucleotide variant	NM_001080414.4(CCDC88C):c.537C>T (p.Asp179=)	not provided [RCV003715811]	likely benign	14	91339971	91339971	Human		name
405243051	CV3042960	single nucleotide variant	NM_001080414.4(CCDC88C):c.939C>T (p.Asp313=)	not provided [RCV003719554]	likely benign	14	91338116	91338116	Human		name
405079101	CV3050294	single nucleotide variant	NM_001080414.4(CCDC88C):c.771C>T (p.Ala257=)	not provided [RCV003716995]	likely benign	14	91339316	91339316	Human		name
405220679	CV3059975	single nucleotide variant	NM_001080414.4(CCDC88C):c.873G>A (p.Leu291=)	not provided [RCV003733257]	likely benign	14	91338507	91338507	Human		name
405190668	CV3069867	single nucleotide variant	NM_001080414.4(CCDC88C):c.465C>T (p.Ile155=)	not provided [RCV003729689]	likely benign	14	91342398	91342398	Human		name
405209280	CV3117234	single nucleotide variant	NM_001080414.4(CCDC88C):c.795C>T (p.Arg265=)	not provided [RCV003823021]	likely benign	14	91339292	91339292	Human		name
405179320	CV3119754	single nucleotide variant	NM_001080414.4(CCDC88C):c.612C>T (p.Asp204=)	not provided [RCV003819847]	likely benign	14	91339896	91339896	Human		name
405182725	CV3120040	single nucleotide variant	NM_001080414.4(CCDC88C):c.852G>A (p.Val284=)	not provided [RCV003820134]	likely benign	14	91338528	91338528	Human		name
405147377	CV3126594	single nucleotide variant	NM_001080414.4(CCDC88C):c.585C>T (p.His195=)	not provided [RCV003817321]	likely benign	14	91339923	91339923	Human		name
405198767	CV3132205	single nucleotide variant	NM_001080414.4(CCDC88C):c.471C>G (p.Ala157=)	not provided [RCV003821798]	likely benign	14	91342392	91342392	Human		name
404995247	CV3132561	single nucleotide variant	NM_001080414.4(CCDC88C):c.738C>T (p.Ser246=)	not provided [RCV003827500]	likely benign	14	91339349	91339349	Human		name
405225325	CV3142340	single nucleotide variant	NM_001080414.4(CCDC88C):c.909A>G (p.Ala303=)	not provided [RCV003847879]	likely benign	14	91338146	91338146	Human		name
405212304	CV3142649	single nucleotide variant	NM_001080414.4(CCDC88C):c.663G>A (p.Gln221=)	not provided [RCV003846006]	likely benign	14	91339424	91339424	Human		name
405214470	CV3143133	single nucleotide variant	NM_001080414.4(CCDC88C):c.597C>T (p.Leu199=)	not provided [RCV003846296]	likely benign	14	91339911	91339911	Human		name
405071170	CV3145363	single nucleotide variant	NM_001080414.4(CCDC88C):c.955C>A (p.Arg319=)	not provided [RCV003850948]	likely benign	14	91338100	91338100	Human		name
405178659	CV3148721	single nucleotide variant	NM_001080414.4(CCDC88C):c.600C>T (p.Ile200=)	not provided [RCV003858499]	likely benign	14	91339908	91339908	Human		name
405223948	CV3151153	single nucleotide variant	NM_001080414.4(CCDC88C):c.567G>A (p.Ser189=)	not provided [RCV003847578]	likely benign	14	91339941	91339941	Human		name
405228542	CV3153350	single nucleotide variant	NM_001080414.4(CCDC88C):c.783C>G (p.Ala261=)	not provided [RCV003848414]	likely benign	14	91339304	91339304	Human		name
405221479	CV3157909	single nucleotide variant	NM_001080414.4(CCDC88C):c.360C>T (p.Ile120=)	not provided [RCV003863601]	likely benign	14	91343638	91343638	Human		name
405246354	CV3162295	single nucleotide variant	NM_001080414.4(CCDC88C):c.498A>G (p.Gln166=)	not provided [RCV003868814]	likely benign	14	91340010	91340010	Human		name
405248734	CV3169703	deletion	NM_001080414.4(CCDC88C):c.4202+11_4202+16del	not provided [RCV003869516]	likely benign	14	91290979	91290984	Human		name
402473613	CV3172112	single nucleotide variant	NM_001080414.4(CCDC88C):c.444C>T (p.Asp148=)	not provided [RCV003874715]	likely benign	14	91342419	91342419	Human		name
402464124	CV3172647	single nucleotide variant	NM_001080414.4(CCDC88C):c.630C>T (p.Ile210=)	not provided [RCV003872585]	likely benign	14	91339457	91339457	Human		name
404983547	CV3180020	single nucleotide variant	NM_001080414.4(CCDC88C):c.858G>A (p.Gln286=)	not provided [RCV003880822]	likely benign	14	91338522	91338522	Human		name
402509724	CV3182066	single nucleotide variant	NM_001080414.4(CCDC88C):c.546G>A (p.Pro182=)	not provided [RCV003878719]	likely benign	14	91339962	91339962	Human		name
404981291	CV3183493	single nucleotide variant	NM_001080414.4(CCDC88C):c.966G>A (p.Ala322=)	not provided [RCV003880516]	likely benign	14	91338089	91338089	Human		name
405739511	CV3292328	single nucleotide variant	NM_001080414.4(CCDC88C):c.61G>A (p.Val21Met)	Inborn genetic diseases [RCV004430417]	uncertain significance	14	91416838	91416838	Human	1	name
405739500	CV3292330	single nucleotide variant	NM_001080414.4(CCDC88C):c.71T>C (p.Phe24Ser)	Inborn genetic diseases [RCV004430419]	uncertain significance	14	91416828	91416828	Human	1	name
597707723	CV3707651	single nucleotide variant	NM_001080414.4(CCDC88C):c.77C>T (p.Pro26Leu)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009408]	uncertain significance	14	91416822	91416822	Human	1	name
597947394	CV3771674	single nucleotide variant	NM_001080414.4(CCDC88C):c.951C>T (p.Ser317=)	not provided [RCV005120199]	likely benign	14	91338104	91338104	Human		name
597881051	CV3783724	single nucleotide variant	NM_001080414.4(CCDC88C):c.732C>T (p.Leu244=)	not provided [RCV005124220]	likely benign	14	91339355	91339355	Human		name
597886352	CV3800116	single nucleotide variant	NM_001080414.4(CCDC88C):c.639C>T (p.Leu213=)	not provided [RCV005150596]	likely benign	14	91339448	91339448	Human		name
597938052	CV3808165	single nucleotide variant	NM_001080414.4(CCDC88C):c.693C>T (p.Ser231=)	not provided [RCV005158353]	likely benign	14	91339394	91339394	Human		name
597846906	CV3828077	single nucleotide variant	NM_001080414.4(CCDC88C):c.378G>C (p.Leu126=)	not provided [RCV005173152]	likely benign	14	91343620	91343620	Human		name
598192432	CV3943551	single nucleotide variant	NM_001080414.4(CCDC88C):c.41A>G (p.Gln14Arg)	Inborn genetic diseases [RCV005312784]	uncertain significance	14	91417650	91417650	Human	1	name
13477307	CV441710	single nucleotide variant	NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=)	not provided [RCV000964529]\|not specified [RCV000516332]	benign\|likely benign	14	91339321	91339321	Human		name
15154263	CV714266	single nucleotide variant	NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV002503054]\|not provided [RCV000968704]\|not specified [RCV001819085]	benign\|likely benign	14	91338149	91338149	Human	1	name
15129896	CV714267	single nucleotide variant	NM_001080414.4(CCDC88C):c.336G>A (p.Leu112=)	CCDC88C-related disorder [RCV004553453]\|not provided [RCV000964338]	benign\|likely benign	14	91359646	91359646	Human	1	name , alternate_id
15138076	CV739386	single nucleotide variant	NM_001080414.4(CCDC88C):c.702C>T (p.Ala234=)	not provided [RCV000898917]	benign\|likely benign	14	91339385	91339385	Human		name
15156637	CV739387	single nucleotide variant	NM_001080414.4(CCDC88C):c.621C>T (p.Thr207=)	not provided [RCV000902366]	likely benign	14	91339887	91339887	Human		name
15191968	CV739388	single nucleotide variant	NM_001080414.4(CCDC88C):c.615G>A (p.Glu205=)	not provided [RCV000910401]	likely benign	14	91339893	91339893	Human		name
15127073	CV754207	single nucleotide variant	NM_001080414.4(CCDC88C):c.534C>T (p.Pro178=)	not provided [RCV000919436]	likely benign	14	91339974	91339974	Human		name
15103280	CV784811	single nucleotide variant	NM_001080414.4(CCDC88C):c.972C>T (p.Arg324=)	not provided [RCV000975985]	likely benign	14	91338083	91338083	Human		name
15132104	CV784812	single nucleotide variant	NM_001080414.4(CCDC88C):c.372G>A (p.Leu124=)	CCDC88C-related disorder [RCV004553520]\|not provided [RCV000981325]	benign\|likely benign	14	91343626	91343626	Human	1	name , alternate_id
126731977	CV1000879	single nucleotide variant	NM_001080414.4(CCDC88C):c.1794G>A (p.Thr598=)	not provided [RCV001310714]	likely benign	14	91314022	91314022	Human		name
9682000	CV167940	single nucleotide variant	NM_001080414.4(CCDC88C):c.1020C>T (p.His340=)	not provided [RCV001689679]\|not specified [RCV000145418]	benign	14	91338035	91338035	Human		name
9682002	CV167943	single nucleotide variant	NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=)	not provided [RCV003718119]\|not specified [RCV000145420]	benign\|likely benign	14	91315707	91315707	Human		name
9682003	CV167944	single nucleotide variant	NM_001080414.4(CCDC88C):c.1773G>A (p.Glu591=)	not provided [RCV001650990]\|not specified [RCV000145421]	benign	14	91314043	91314043	Human		name
9682005	CV167946	single nucleotide variant	NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=)	not provided [RCV000888176]\|not specified [RCV000145423]	benign\|likely benign	14	91313854	91313854	Human		name
9682013	CV167958	single nucleotide variant	NM_001080414.4(CCDC88C):c.1131C>T (p.Gly377=)	not provided [RCV001675633]\|not specified [RCV000145434]	benign	14	91325976	91325976	Human		name
156064274	CV1888705	single nucleotide variant	NM_001080414.4(CCDC88C):c.2394G>T (p.Ala798=)	not provided [RCV003079330]	benign	14	91313422	91313422	Human		name
155968887	CV1888793	single nucleotide variant	NM_001080414.4(CCDC88C):c.2643C>T (p.Asp881=)	not provided [RCV003075077]	likely benign	14	91313173	91313173	Human		name
156409924	CV1891786	single nucleotide variant	NM_001080414.4(CCDC88C):c.1185C>T (p.His395=)	not provided [RCV003071867]	likely benign	14	91325922	91325922	Human		name
156155166	CV1896224	single nucleotide variant	NM_001080414.4(CCDC88C):c.2571T>C (p.Asp857=)	not provided [RCV003082687]	likely benign	14	91313245	91313245	Human		name
156044517	CV1927039	single nucleotide variant	NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)	CCDC88C-related disorder [RCV004550443]\|not provided [RCV002637709]\|not specified [RCV004587442]	likely benign\|uncertain significance	14	91313451	91313451	Human	1	name , alternate_id
156312549	CV1969814	single nucleotide variant	NM_001080414.4(CCDC88C):c.2346G>A (p.Thr782=)	not provided [RCV002578773]	likely benign	14	91313470	91313470	Human		name
156046646	CV1978068	single nucleotide variant	NM_001080414.4(CCDC88C):c.1854G>A (p.Arg618=)	not provided [RCV002590518]	likely benign	14	91313962	91313962	Human		name
156090707	CV2017660	single nucleotide variant	NM_001080414.4(CCDC88C):c.2742G>A (p.Leu914=)	not provided [RCV002694931]	likely benign	14	91309981	91309981	Human		name
155965130	CV2034187	single nucleotide variant	NM_001080414.4(CCDC88C):c.1830G>A (p.Glu610=)	not provided [RCV002731358]	likely benign	14	91313986	91313986	Human		name
156010172	CV2045491	single nucleotide variant	NM_001080414.4(CCDC88C):c.1932C>T (p.Asn644=)	not provided [RCV002780097]	likely benign	14	91313884	91313884	Human		name
156081384	CV2050154	single nucleotide variant	NM_001080414.4(CCDC88C):c.2316G>A (p.Gln772=)	not provided [RCV002823865]	likely benign	14	91313500	91313500	Human		name
156160091	CV2060213	single nucleotide variant	NM_001080414.4(CCDC88C):c.1371G>C (p.Leu457=)	not provided [RCV002801599]	likely benign	14	91321276	91321276	Human		name
156314274	CV2089575	single nucleotide variant	NM_001080414.4(CCDC88C):c.2718A>G (p.Thr906=)	not provided [RCV002898896]	likely benign	14	91313098	91313098	Human		name
155989199	CV2105562	single nucleotide variant	NM_001080414.4(CCDC88C):c.2061C>T (p.Asn687=)	not provided [RCV002947250]	likely benign	14	91313755	91313755	Human		name
155955590	CV2161677	deletion	NM_001080414.4(CCDC88C):c.720del (p.Thr241fs)	not provided [RCV003032662]	pathogenic	14	91339367	91339367	Human		name
156187285	CV2165629	single nucleotide variant	NM_001080414.4(CCDC88C):c.2280C>T (p.Ser760=)	not provided [RCV003041541]	likely benign	14	91313536	91313536	Human		name
156276167	CV2185922	single nucleotide variant	NM_001080414.4(CCDC88C):c.2970G>A (p.Ala990=)	not provided [RCV003044625]	likely benign	14	91308387	91308387	Human		name
156346015	CV2356460	single nucleotide variant	NM_001080414.4(CCDC88C):c.191A>G (p.Asn64Ser)	Inborn genetic diseases [RCV002965891]	uncertain significance	14	91408738	91408738	Human	1	name
401902162	CV2810641	single nucleotide variant	NM_001080414.4(CCDC88C):c.1257G>A (p.Glu419=)	not provided [RCV003393559]	likely benign	14	91324864	91324864	Human		name
402477752	CV2853841	single nucleotide variant	NM_001080414.4(CCDC88C):c.1629T>C (p.Ser543=)	not provided [RCV003543654]	likely benign	14	91315686	91315686	Human		name
402519760	CV2856949	single nucleotide variant	NM_001080414.4(CCDC88C):c.1509C>T (p.Asn503=)	not provided [RCV003575624]	likely benign	14	91321138	91321138	Human		name
402474126	CV2858055	single nucleotide variant	NM_001080414.4(CCDC88C):c.2562C>A (p.Val854=)	not provided [RCV003543081]	likely benign	14	91313254	91313254	Human		name
402477791	CV2858244	single nucleotide variant	NM_001080414.4(CCDC88C):c.1722G>C (p.Arg574=)	not provided [RCV003543660]	likely benign	14	91314094	91314094	Human		name
405203099	CV2861502	single nucleotide variant	NM_001080414.4(CCDC88C):c.1075T>C (p.Leu359=)	not provided [RCV003551517]	likely benign	14	91326032	91326032	Human		name
402510465	CV2862126	single nucleotide variant	NM_001080414.4(CCDC88C):c.1717C>T (p.Leu573=)	not provided [RCV003546966]	likely benign	14	91314099	91314099	Human		name
405190924	CV2871329	single nucleotide variant	NM_001080414.4(CCDC88C):c.2409G>A (p.Leu803=)	not provided [RCV003550368]	likely benign	14	91313407	91313407	Human		name
405095121	CV2874850	single nucleotide variant	NM_001080414.4(CCDC88C):c.1767G>A (p.Glu589=)	not provided [RCV003550198]	likely benign	14	91314049	91314049	Human		name
402492217	CV2877729	single nucleotide variant	NM_001080414.4(CCDC88C):c.2388C>A (p.Arg796=)	not provided [RCV003545000]	likely benign	14	91313428	91313428	Human		name
405238504	CV2881412	single nucleotide variant	NM_001080414.4(CCDC88C):c.2592C>T (p.Ala864=)	not provided [RCV003556806]	likely benign	14	91313224	91313224	Human		name
405224246	CV2885415	single nucleotide variant	NM_001080414.4(CCDC88C):c.1548G>A (p.Gln516=)	not provided [RCV003554386]	likely benign	14	91315767	91315767	Human		name
405239183	CV2886007	single nucleotide variant	NM_001080414.4(CCDC88C):c.2422C>T (p.Leu808=)	not provided [RCV003557000]	likely benign	14	91313394	91313394	Human		name
405163361	CV2895592	single nucleotide variant	NM_001080414.4(CCDC88C):c.2373G>A (p.Glu791=)	not provided [RCV003562550]	likely benign	14	91313443	91313443	Human		name
405109620	CV2898842	single nucleotide variant	NM_001080414.4(CCDC88C):c.2328G>A (p.Glu776=)	not provided [RCV003557711]	likely benign	14	91313488	91313488	Human		name
405161374	CV2899447	single nucleotide variant	NM_001080414.4(CCDC88C):c.2700C>A (p.Val900=)	not provided [RCV003562421]	likely benign	14	91313116	91313116	Human		name
405173234	CV2907717	single nucleotide variant	NM_001080414.4(CCDC88C):c.1209A>G (p.Thr403=)	not provided [RCV003563310]	likely benign	14	91324912	91324912	Human		name
405210809	CV2910132	single nucleotide variant	NM_001080414.4(CCDC88C):c.2301G>A (p.Glu767=)	not provided [RCV003566938]	likely benign	14	91313515	91313515	Human		name
402479263	CV2910715	single nucleotide variant	NM_001080414.4(CCDC88C):c.2787C>T (p.Asp929=)	not provided [RCV003571896]	likely benign	14	91309936	91309936	Human		name
402472545	CV2912365	single nucleotide variant	NM_001080414.4(CCDC88C):c.2967A>G (p.Lys989=)	not provided [RCV003570816]	likely benign	14	91308390	91308390	Human		name
402472585	CV2912375	single nucleotide variant	NM_001080414.4(CCDC88C):c.2355G>A (p.Leu785=)	not provided [RCV003570823]	likely benign	14	91313461	91313461	Human		name
405178120	CV2913021	single nucleotide variant	NM_001080414.4(CCDC88C):c.1056G>A (p.Leu352=)	not provided [RCV003563717]	likely benign	14	91326051	91326051	Human		name
405180664	CV2914012	single nucleotide variant	NM_001080414.4(CCDC88C):c.2898A>C (p.Ser966=)	not provided [RCV003563933]	likely benign	14	91308459	91308459	Human		name
402464332	CV2920140	single nucleotide variant	NM_001080414.4(CCDC88C):c.1101G>A (p.Glu367=)	not provided [RCV003568993]	likely benign	14	91326006	91326006	Human		name
405186257	CV2921210	single nucleotide variant	NM_001080414.4(CCDC88C):c.1059A>G (p.Arg353=)	not provided [RCV003564391]	likely benign	14	91326048	91326048	Human		name
402482426	CV2921781	single nucleotide variant	NM_001080414.4(CCDC88C):c.1641C>A (p.Thr547=)	not provided [RCV003572216]	likely benign	14	91315674	91315674	Human		name
405009227	CV2926854	single nucleotide variant	NM_001080414.4(CCDC88C):c.2658G>A (p.Leu886=)	not provided [RCV003576504]	likely benign	14	91313158	91313158	Human		name
405011632	CV2933800	single nucleotide variant	NM_001080414.4(CCDC88C):c.1446G>A (p.Leu482=)	not provided [RCV003576782]	likely benign	14	91321201	91321201	Human		name
405066524	CV2936669	single nucleotide variant	NM_001080414.4(CCDC88C):c.1155G>A (p.Lys385=)	not provided [RCV003659155]	likely benign	14	91325952	91325952	Human		name
405091272	CV2937359	single nucleotide variant	NM_001080414.4(CCDC88C):c.1902G>A (p.Glu634=)	not provided [RCV003665248]	likely benign	14	91313914	91313914	Human		name
405112613	CV2939005	single nucleotide variant	NM_001080414.4(CCDC88C):c.2142G>A (p.Glu714=)	not provided [RCV003666504]	likely benign	14	91313674	91313674	Human		name
405125870	CV2939445	single nucleotide variant	NM_001080414.4(CCDC88C):c.1402C>T (p.Leu468=)	not provided [RCV003671948]	likely benign	14	91321245	91321245	Human		name
402523917	CV2940419	single nucleotide variant	NM_001080414.4(CCDC88C):c.2574C>T (p.Ser858=)	not provided [RCV003663511]	likely benign	14	91313242	91313242	Human		name
405073614	CV2940575	single nucleotide variant	NM_001080414.4(CCDC88C):c.1371G>A (p.Leu457=)	not provided [RCV003659568]	likely benign	14	91321276	91321276	Human		name
405074106	CV2940615	single nucleotide variant	NM_001080414.4(CCDC88C):c.1323G>A (p.Lys441=)	not provided [RCV003659596]	likely benign	14	91324798	91324798	Human		name
402496912	CV2942809	single nucleotide variant	NM_001080414.4(CCDC88C):c.2946A>G (p.Leu982=)	not provided [RCV003661154]	likely benign	14	91308411	91308411	Human		name
402484254	CV2944862	single nucleotide variant	NM_001080414.4(CCDC88C):c.2586G>A (p.Leu862=)	not provided [RCV003659925]	likely benign	14	91313230	91313230	Human		name
402484514	CV2944895	single nucleotide variant	NM_001080414.4(CCDC88C):c.2097C>T (p.Asn699=)	not provided [RCV003659947]	likely benign	14	91313719	91313719	Human		name
402506044	CV2947710	single nucleotide variant	NM_001080414.4(CCDC88C):c.1743T>C (p.Ser581=)	not provided [RCV003662072]	likely benign	14	91314073	91314073	Human		name
405113541	CV2948693	single nucleotide variant	NM_001080414.4(CCDC88C):c.1959C>T (p.Ser653=)	not provided [RCV003666628]	likely benign	14	91313857	91313857	Human		name
405114063	CV2948823	single nucleotide variant	NM_001080414.4(CCDC88C):c.1015C>T (p.Leu339=)	not provided [RCV003666697]	likely benign	14	91338040	91338040	Human		name
405145775	CV2949973	single nucleotide variant	NM_001080414.4(CCDC88C):c.2031T>C (p.Thr677=)	not provided [RCV003669684]	likely benign	14	91313785	91313785	Human		name
405138049	CV2954513	single nucleotide variant	NM_001080414.4(CCDC88C):c.1761C>T (p.Asp587=)	not provided [RCV003672985]	likely benign	14	91314055	91314055	Human		name
405166756	CV2954718	single nucleotide variant	NM_001080414.4(CCDC88C):c.1674C>T (p.Asp558=)	not provided [RCV003675095]	likely benign	14	91314142	91314142	Human		name
405159568	CV2955025	single nucleotide variant	NM_001080414.4(CCDC88C):c.1485G>A (p.Lys495=)	not provided [RCV003670629]	likely benign	14	91321162	91321162	Human		name
405179765	CV2956143	single nucleotide variant	NM_001080414.4(CCDC88C):c.1455G>A (p.Ala485=)	CCDC88C-related disorder [RCV004554276]\|not provided [RCV003676152]	likely benign	14	91321192	91321192	Human	1	name , alternate_id
405157621	CV2956631	single nucleotide variant	NM_001080414.4(CCDC88C):c.2067C>T (p.Ser689=)	not provided [RCV003674456]	likely benign	14	91313749	91313749	Human		name
405162642	CV2960427	single nucleotide variant	NM_001080414.4(CCDC88C):c.1560A>G (p.Glu520=)	not provided [RCV003674794]	likely benign	14	91315755	91315755	Human		name
405140032	CV2961905	single nucleotide variant	NM_001080414.4(CCDC88C):c.2490C>G (p.Leu830=)	not provided [RCV003673144]	likely benign	14	91313326	91313326	Human		name
405227133	CV2963475	single nucleotide variant	NM_001080414.4(CCDC88C):c.2652C>A (p.Gly884=)	not provided [RCV003681616]	likely benign	14	91313164	91313164	Human		name
405185094	CV2967546	single nucleotide variant	NM_001080414.4(CCDC88C):c.1344C>T (p.Ala448=)	not provided [RCV003676594]	likely benign	14	91321303	91321303	Human		name
405139711	CV2970258	single nucleotide variant	NM_001080414.4(CCDC88C):c.1818C>T (p.Leu606=)	not provided [RCV003669002]	likely benign	14	91313998	91313998	Human		name
405213328	CV2971274	single nucleotide variant	NM_001080414.4(CCDC88C):c.1941G>A (p.Leu647=)	not provided [RCV003679695]	likely benign	14	91313875	91313875	Human		name
405228912	CV2973707	single nucleotide variant	NM_001080414.4(CCDC88C):c.2358G>A (p.Glu786=)	not provided [RCV003681846]	likely benign	14	91313458	91313458	Human		name
405243389	CV2974890	single nucleotide variant	NM_001080414.4(CCDC88C):c.1143T>C (p.His381=)	not provided [RCV003684523]	likely benign	14	91325964	91325964	Human		name
402495303	CV2978639	single nucleotide variant	NM_001080414.4(CCDC88C):c.1881G>A (p.Gly627=)	not provided [RCV003714196]	likely benign	14	91313935	91313935	Human		name
405248173	CV2981070	single nucleotide variant	NM_001080414.4(CCDC88C):c.2793G>A (p.Leu931=)	not provided [RCV003721030]	likely benign	14	91309930	91309930	Human		name
405214142	CV2981333	single nucleotide variant	NM_001080414.4(CCDC88C):c.1593T>C (p.Ser531=)	not provided [RCV003709092]	likely benign	14	91315722	91315722	Human		name
405224009	CV2982958	single nucleotide variant	NM_001080414.4(CCDC88C):c.2283C>T (p.Tyr761=)	not provided [RCV003681121]	likely benign	14	91313533	91313533	Human		name
405207428	CV2990760	single nucleotide variant	NM_001080414.4(CCDC88C):c.1770G>A (p.Lys590=)	not provided [RCV003678917]	likely benign	14	91314046	91314046	Human		name
405017289	CV2991647	single nucleotide variant	NM_001080414.4(CCDC88C):c.1623G>A (p.Leu541=)	not provided [RCV003694458]	likely benign	14	91315692	91315692	Human		name
405018247	CV2991908	single nucleotide variant	NM_001080414.4(CCDC88C):c.1203G>C (p.Arg401=)	not provided [RCV003694599]	likely benign	14	91324918	91324918	Human		name
404993201	CV2995853	single nucleotide variant	NM_001080414.4(CCDC88C):c.1566G>A (p.Gln522=)	not provided [RCV003692484]	likely benign	14	91315749	91315749	Human		name
404993535	CV2995925	single nucleotide variant	NM_001080414.4(CCDC88C):c.1120C>A (p.Arg374=)	not provided [RCV003692518]	likely benign	14	91325987	91325987	Human		name
404989861	CV2998750	single nucleotide variant	NM_001080414.4(CCDC88C):c.2238G>A (p.Leu746=)	not provided [RCV003692183]	likely benign	14	91313578	91313578	Human		name
402516062	CV3003121	single nucleotide variant	NM_001080414.4(CCDC88C):c.1458C>T (p.Ser486=)	not provided [RCV003716076]	likely benign	14	91321189	91321189	Human		name
405241314	CV3004744	single nucleotide variant	NM_001080414.4(CCDC88C):c.2961A>G (p.Glu987=)	not provided [RCV003719267]	likely benign	14	91308396	91308396	Human		name
402521278	CV3004999	single nucleotide variant	NM_001080414.4(CCDC88C):c.2490C>T (p.Leu830=)	not provided [RCV003690316]	likely benign	14	91313326	91313326	Human		name
402495122	CV3005640	single nucleotide variant	NM_001080414.4(CCDC88C):c.1878G>A (p.Lys626=)	not provided [RCV003687934]	likely benign	14	91313938	91313938	Human		name
402495423	CV3005705	single nucleotide variant	NM_001080414.4(CCDC88C):c.1443G>T (p.Gly481=)	not provided [RCV003687964]	likely benign	14	91321204	91321204	Human		name
405034126	CV3006713	single nucleotide variant	NM_001080414.4(CCDC88C):c.1944C>T (p.Ala648=)	not provided [RCV003695798]	likely benign	14	91313872	91313872	Human		name
405034164	CV3006716	single nucleotide variant	NM_001080414.4(CCDC88C):c.2436G>A (p.Gln812=)	not provided [RCV003695801]	likely benign	14	91313380	91313380	Human		name
405130257	CV3010921	single nucleotide variant	NM_001080414.4(CCDC88C):c.1911A>C (p.Leu637=)	not provided [RCV003701612]	likely benign	14	91313905	91313905	Human		name
404978413	CV3013051	single nucleotide variant	NM_001080414.4(CCDC88C):c.1362G>C (p.Val454=)	not provided [RCV003690807]	likely benign	14	91321285	91321285	Human		name
405128609	CV3014076	single nucleotide variant	NM_001080414.4(CCDC88C):c.1389C>T (p.Ser463=)	not provided [RCV003701464]	likely benign	14	91321258	91321258	Human		name
402523476	CV3014953	single nucleotide variant	NM_001080414.4(CCDC88C):c.1054C>T (p.Leu352=)	not provided [RCV003690473]	likely benign	14	91326053	91326053	Human		name
402499600	CV3015974	single nucleotide variant	NM_001080414.4(CCDC88C):c.1866G>A (p.Gln622=)	not provided [RCV003688276]	likely benign	14	91313950	91313950	Human		name
402499284	CV3016106	single nucleotide variant	NM_001080414.4(CCDC88C):c.2782C>T (p.Leu928=)	not provided [RCV003688324]	likely benign	14	91309941	91309941	Human		name
405166486	CV3018922	single nucleotide variant	NM_001080414.4(CCDC88C):c.2218C>T (p.Leu740=)	not provided [RCV003704353]	likely benign	14	91313598	91313598	Human		name
405059322	CV3019901	single nucleotide variant	NM_001080414.4(CCDC88C):c.2448C>T (p.Ala816=)	CCDC88C-related disorder [RCV004554290]\|not provided [RCV003697568]	likely benign	14	91313368	91313368	Human	1	name , alternate_id
405051125	CV3025607	single nucleotide variant	NM_001080414.4(CCDC88C):c.2829G>A (p.Glu943=)	not provided [RCV003696990]	likely benign	14	91309894	91309894	Human		name
405171577	CV3025774	single nucleotide variant	NM_001080414.4(CCDC88C):c.2448C>A (p.Ala816=)	not provided [RCV003704657]	likely benign	14	91313368	91313368	Human		name
405180814	CV3027850	single nucleotide variant	NM_001080414.4(CCDC88C):c.1827G>A (p.Leu609=)	not provided [RCV003705510]	likely benign	14	91313989	91313989	Human		name
405149974	CV3031252	single nucleotide variant	NM_001080414.4(CCDC88C):c.2913A>G (p.Thr971=)	not provided [RCV003703223]	likely benign	14	91308444	91308444	Human		name
405077124	CV3031656	single nucleotide variant	NM_001080414.4(CCDC88C):c.2833C>T (p.Leu945=)	not provided [RCV003698604]	likely benign	14	91309890	91309890	Human		name
402486292	CV3033865	single nucleotide variant	NM_001080414.4(CCDC88C):c.1125C>T (p.Ala375=)	not provided [RCV003713278]	likely benign	14	91325982	91325982	Human		name
402487117	CV3034063	single nucleotide variant	NM_001080414.4(CCDC88C):c.1119T>G (p.Ala373=)	not provided [RCV003713412]	likely benign	14	91325988	91325988	Human		name
402478420	CV3038103	single nucleotide variant	NM_001080414.4(CCDC88C):c.2034G>A (p.Leu678=)	not provided [RCV003712434]	likely benign	14	91313782	91313782	Human		name
402498836	CV3038190	single nucleotide variant	NM_001080414.4(CCDC88C):c.2025C>T (p.Asn675=)	not provided [RCV003714464]	likely benign	14	91313791	91313791	Human		name
405222090	CV3038696	single nucleotide variant	NM_001080414.4(CCDC88C):c.2565G>A (p.Leu855=)	not provided [RCV003710126]	likely benign	14	91313251	91313251	Human		name
405198965	CV3041008	single nucleotide variant	NM_001080414.4(CCDC88C):c.2013G>A (p.Leu671=)	not provided [RCV003707253]	likely benign	14	91313803	91313803	Human		name
405205883	CV3041895	single nucleotide variant	NM_001080414.4(CCDC88C):c.2125C>T (p.Leu709=)	not provided [RCV003707998]	likely benign	14	91313691	91313691	Human		name
405206080	CV3041924	single nucleotide variant	NM_001080414.4(CCDC88C):c.1872G>A (p.Lys624=)	not provided [RCV003708022]	likely benign	14	91313944	91313944	Human		name
405253967	CV3045172	single nucleotide variant	NM_001080414.4(CCDC88C):c.2058G>A (p.Gln686=)	not provided [RCV003722782]	likely benign	14	91313758	91313758	Human		name
405251937	CV3046332	single nucleotide variant	NM_001080414.4(CCDC88C):c.2193G>A (p.Gln731=)	not provided [RCV003722037]	likely benign	14	91313623	91313623	Human		name
405080800	CV3046629	single nucleotide variant	NM_001080414.4(CCDC88C):c.2109C>T (p.Asp703=)	not provided [RCV003717119]	likely benign	14	91313707	91313707	Human		name
405085539	CV3046894	single nucleotide variant	NM_001080414.4(CCDC88C):c.1017G>A (p.Leu339=)	not provided [RCV003717264]	likely benign	14	91338038	91338038	Human		name
405217418	CV3048850	single nucleotide variant	NM_001080414.4(CCDC88C):c.2460G>A (p.Arg820=)	not provided [RCV003732833]	likely benign	14	91313356	91313356	Human		name
405177790	CV3049508	single nucleotide variant	NM_001080414.4(CCDC88C):c.1452C>T (p.Asp484=)	not provided [RCV003728426]	likely benign	14	91321195	91321195	Human		name
405134147	CV3051878	single nucleotide variant	NM_001080414.4(CCDC88C):c.1842G>A (p.Arg614=)	not provided [RCV003725091]	likely benign	14	91313974	91313974	Human		name
405092019	CV3054649	single nucleotide variant	NM_001080414.4(CCDC88C):c.1338A>G (p.Ser446=)	not provided [RCV003717886]	likely benign	14	91324783	91324783	Human		name
405145570	CV3056327	single nucleotide variant	NM_001080414.4(CCDC88C):c.1659C>T (p.Ala553=)	not provided [RCV003725954]	likely benign	14	91315656	91315656	Human		name
405163756	CV3059373	single nucleotide variant	NM_001080414.4(CCDC88C):c.2748C>G (p.Leu916=)	not provided [RCV003727282]	likely benign	14	91309975	91309975	Human		name
405165770	CV3059596	single nucleotide variant	NM_001080414.4(CCDC88C):c.2374C>T (p.Leu792=)	not provided [RCV003727431]	likely benign	14	91313442	91313442	Human		name
405222993	CV3061154	single nucleotide variant	NM_001080414.4(CCDC88C):c.1383G>A (p.Ala461=)	not provided [RCV003733598]	likely benign	14	91321264	91321264	Human		name
405159345	CV3061572	single nucleotide variant	NM_001080414.4(CCDC88C):c.1698C>T (p.Leu566=)	not provided [RCV003726923]	likely benign	14	91314118	91314118	Human		name
405162331	CV3062695	single nucleotide variant	NM_001080414.4(CCDC88C):c.2119C>T (p.Leu707=)	not provided [RCV003727187]	likely benign	14	91313697	91313697	Human		name
405212278	CV3063190	single nucleotide variant	NM_001080414.4(CCDC88C):c.2175G>A (p.Gln725=)	not provided [RCV003732177]	likely benign	14	91313641	91313641	Human		name
405204583	CV3063289	single nucleotide variant	NM_001080414.4(CCDC88C):c.1062A>G (p.Glu354=)	CCDC88C-related disorder [RCV004554303]\|not provided [RCV003731057]	benign\|likely benign	14	91326045	91326045	Human	1	name , alternate_id
405219751	CV3063407	single nucleotide variant	NM_001080414.4(CCDC88C):c.1065T>C (p.Asp355=)	not provided [RCV003733128]	likely benign	14	91326042	91326042	Human		name
405208093	CV3065331	single nucleotide variant	NM_001080414.4(CCDC88C):c.1284A>G (p.Glu428=)	not provided [RCV003731601]	likely benign	14	91324837	91324837	Human		name
405208313	CV3065392	single nucleotide variant	NM_001080414.4(CCDC88C):c.2853C>T (p.Ser951=)	not provided [RCV003731632]	likely benign	14	91309870	91309870	Human		name
405227894	CV3065671	single nucleotide variant	NM_001080414.4(CCDC88C):c.1983C>T (p.Val661=)	not provided [RCV003734376]	likely benign	14	91313833	91313833	Human		name
405147943	CV3067454	single nucleotide variant	NM_001080414.4(CCDC88C):c.2112A>G (p.Ala704=)	not provided [RCV003726201]	likely benign	14	91313704	91313704	Human		name
405231235	CV3070581	single nucleotide variant	NM_001080414.4(CCDC88C):c.2295C>T (p.Ser765=)	not provided [RCV003734940]	likely benign	14	91313521	91313521	Human		name
405242925	CV3074519	single nucleotide variant	NM_001080414.4(CCDC88C):c.1707C>T (p.Ala569=)	not provided [RCV003737681]	likely benign	14	91314109	91314109	Human		name
405032206	CV3074942	single nucleotide variant	NM_001080414.4(CCDC88C):c.1464G>A (p.Val488=)	not provided [RCV003739233]	likely benign	14	91321183	91321183	Human		name
405028059	CV3076174	single nucleotide variant	NM_001080414.4(CCDC88C):c.2847C>T (p.Asp949=)	not provided [RCV003738933]	likely benign	14	91309876	91309876	Human		name
405237895	CV3077809	single nucleotide variant	NM_001080414.4(CCDC88C):c.1716G>A (p.Ser572=)	not provided [RCV003736255]	likely benign	14	91314100	91314100	Human		name
405134581	CV3115588	single nucleotide variant	NM_001080414.4(CCDC88C):c.2277C>G (p.Leu759=)	not provided [RCV003816245]	likely benign	14	91313539	91313539	Human		name
405192103	CV3118190	single nucleotide variant	NM_001080414.4(CCDC88C):c.2610C>T (p.Arg870=)	not provided [RCV003821100]	likely benign	14	91313206	91313206	Human		name
405188139	CV3121272	single nucleotide variant	NM_001080414.4(CCDC88C):c.2241C>G (p.Leu747=)	not provided [RCV003820728]	likely benign	14	91313575	91313575	Human		name
405189146	CV3121373	single nucleotide variant	NM_001080414.4(CCDC88C):c.2229C>T (p.Asn743=)	not provided [RCV003820829]	likely benign	14	91313587	91313587	Human		name
404983129	CV3121552	single nucleotide variant	NM_001080414.4(CCDC88C):c.1398G>A (p.Leu466=)	not provided [RCV003826351]	likely benign	14	91321249	91321249	Human		name
405164560	CV3121828	single nucleotide variant	NM_001080414.4(CCDC88C):c.2982C>T (p.Arg994=)	not provided [RCV003818606]	likely benign	14	91308375	91308375	Human		name
405185551	CV3124287	single nucleotide variant	NM_001080414.4(CCDC88C):c.1455G>T (p.Ala485=)	not provided [RCV003820486]	likely benign	14	91321192	91321192	Human		name
405141099	CV3125869	single nucleotide variant	NM_001080414.4(CCDC88C):c.1356G>A (p.Ser452=)	not provided [RCV003816784]	likely benign	14	91321291	91321291	Human		name
405125065	CV3126396	single nucleotide variant	NM_001080414.4(CCDC88C):c.2757G>A (p.Leu919=)	not provided [RCV003815148]	likely benign	14	91309966	91309966	Human		name
404977483	CV3127213	single nucleotide variant	NM_001080414.4(CCDC88C):c.1314G>A (p.Gln438=)	not provided [RCV003825436]	likely benign	14	91324807	91324807	Human		name
404979601	CV3127843	single nucleotide variant	NM_001080414.4(CCDC88C):c.1002C>T (p.Arg334=)	not provided [RCV003825875]	likely benign	14	91338053	91338053	Human		name
405194146	CV3128556	single nucleotide variant	NM_001080414.4(CCDC88C):c.2068C>T (p.Leu690=)	not provided [RCV003821293]	likely benign	14	91313748	91313748	Human		name
405059769	CV3129418	single nucleotide variant	NM_001080414.4(CCDC88C):c.1311G>A (p.Glu437=)	not provided [RCV003832687]	likely benign	14	91324810	91324810	Human		name
404995168	CV3132644	single nucleotide variant	NM_001080414.4(CCDC88C):c.2064G>A (p.Val688=)	CCDC88C-related disorder [RCV004548708]\|not provided [RCV003827583]	likely benign	14	91313752	91313752	Human	1	name , alternate_id
405113555	CV3133635	single nucleotide variant	NM_001080414.4(CCDC88C):c.2742G>T (p.Leu914=)	not provided [RCV003836428]	likely benign	14	91309981	91309981	Human		name
405092167	CV3134486	single nucleotide variant	NM_001080414.4(CCDC88C):c.1315C>T (p.Leu439=)	not provided [RCV003834832]	likely benign	14	91324806	91324806	Human		name
405056687	CV3134837	single nucleotide variant	NM_001080414.4(CCDC88C):c.2052C>A (p.Thr684=)	not provided [RCV003832509]	likely benign	14	91313764	91313764	Human		name
405218634	CV3135735	single nucleotide variant	NM_001080414.4(CCDC88C):c.2247G>A (p.Ala749=)	not provided [RCV003824360]	likely benign	14	91313569	91313569	Human		name
405077148	CV3136928	single nucleotide variant	NM_001080414.4(CCDC88C):c.1740C>T (p.Ser580=)	not provided [RCV003833826]	likely benign	14	91314076	91314076	Human		name
405084618	CV3137663	single nucleotide variant	NM_001080414.4(CCDC88C):c.2649C>T (p.Ala883=)	not provided [RCV003834372]	likely benign	14	91313167	91313167	Human		name
405105638	CV3139922	single nucleotide variant	NM_001080414.4(CCDC88C):c.2895A>G (p.Glu965=)	not provided [RCV003835333]\|not specified [RCV005419721]	likely benign	14	91308462	91308462	Human		name
405069035	CV3140196	single nucleotide variant	NM_001080414.4(CCDC88C):c.2472G>A (p.Glu824=)	not provided [RCV003833351]	likely benign	14	91313344	91313344	Human		name
405039084	CV3140960	single nucleotide variant	NM_001080414.4(CCDC88C):c.1785C>T (p.Leu595=)	not provided [RCV003831253]	likely benign	14	91314031	91314031	Human		name
405040621	CV3141078	single nucleotide variant	NM_001080414.4(CCDC88C):c.2403G>A (p.Arg801=)	not provided [RCV003831371]	likely benign	14	91313413	91313413	Human		name
405225933	CV3142319	single nucleotide variant	NM_001080414.4(CCDC88C):c.2325G>T (p.Leu775=)	not provided [RCV003847858]	likely benign	14	91313491	91313491	Human		name
405225856	CV3142431	single nucleotide variant	NM_001080414.4(CCDC88C):c.1476C>T (p.Ser492=)	not provided [RCV003847970]	likely benign	14	91321171	91321171	Human		name
405226246	CV3142493	single nucleotide variant	NM_001080414.4(CCDC88C):c.2190C>T (p.Asn730=)	not provided [RCV003848032]	likely benign	14	91313626	91313626	Human		name
405215111	CV3143212	single nucleotide variant	NM_001080414.4(CCDC88C):c.2955G>A (p.Gln985=)	not provided [RCV003846375]	likely benign	14	91308402	91308402	Human		name
405231377	CV3144500	single nucleotide variant	NM_001080414.4(CCDC88C):c.2748C>T (p.Leu916=)	not provided [RCV003852953]	likely benign	14	91309975	91309975	Human		name
405233728	CV3145033	single nucleotide variant	NM_001080414.4(CCDC88C):c.1974C>T (p.Thr658=)	not provided [RCV003853290]	likely benign	14	91313842	91313842	Human		name
405183992	CV3147962	single nucleotide variant	NM_001080414.4(CCDC88C):c.1353G>A (p.Lys451=)	not provided [RCV003842672]	likely benign	14	91321294	91321294	Human		name
405044541	CV3150317	single nucleotide variant	NM_001080414.4(CCDC88C):c.1392C>A (p.Arg464=)	not provided [RCV003849111]	likely benign	14	91321255	91321255	Human		name
405171562	CV3151715	single nucleotide variant	NM_001080414.4(CCDC88C):c.1122G>T (p.Arg374=)	not provided [RCV003857866]	likely benign	14	91325985	91325985	Human		name
405148890	CV3152409	single nucleotide variant	NM_001080414.4(CCDC88C):c.1041C>T (p.Ala347=)	not provided [RCV003856188]	likely benign	14	91338014	91338014	Human		name
405230203	CV3153838	single nucleotide variant	NM_001080414.4(CCDC88C):c.2974C>T (p.Leu992=)	not provided [RCV003848705]	likely benign	14	91308383	91308383	Human		name
405230725	CV3153926	single nucleotide variant	NM_001080414.4(CCDC88C):c.2121G>C (p.Leu707=)	not provided [RCV003848794]	likely benign	14	91313695	91313695	Human		name
405141612	CV3155339	single nucleotide variant	NM_001080414.4(CCDC88C):c.2964G>A (p.Glu988=)	not provided [RCV003855577]	likely benign	14	91308393	91308393	Human		name
405141746	CV3155351	single nucleotide variant	NM_001080414.4(CCDC88C):c.2784G>C (p.Leu928=)	not provided [RCV003855589]	likely benign	14	91309939	91309939	Human		name
405169616	CV3156948	single nucleotide variant	NM_001080414.4(CCDC88C):c.2763C>T (p.Ser921=)	not provided [RCV003857652]	likely benign	14	91309960	91309960	Human		name
405224684	CV3158823	single nucleotide variant	NM_001080414.4(CCDC88C):c.1326C>T (p.Asn442=)	not provided [RCV003864125]\|not specified [RCV005000482]	likely benign	14	91324795	91324795	Human		name
405156729	CV3159355	single nucleotide variant	NM_001080414.4(CCDC88C):c.2868A>G (p.Lys956=)	not provided [RCV003856620]	likely benign	14	91308489	91308489	Human		name
405181238	CV3159494	single nucleotide variant	NM_001080414.4(CCDC88C):c.1347C>T (p.Ser449=)	not provided [RCV003858744]	likely benign	14	91321300	91321300	Human		name
405209827	CV3162672	single nucleotide variant	NM_001080414.4(CCDC88C):c.1458C>G (p.Ser486=)	not provided [RCV003861971]	likely benign	14	91321189	91321189	Human		name
405137315	CV3164359	single nucleotide variant	NM_001080414.4(CCDC88C):c.1488C>T (p.Cys496=)	not provided [RCV003855154]	likely benign	14	91321159	91321159	Human		name
405206213	CV3165664	single nucleotide variant	NM_001080414.4(CCDC88C):c.1749C>T (p.Ala583=)	not provided [RCV003861330]	likely benign	14	91314067	91314067	Human		name
405238056	CV3167008	single nucleotide variant	NM_001080414.4(CCDC88C):c.2667G>A (p.Leu889=)	not provided [RCV003854263]	likely benign	14	91313149	91313149	Human		name
405238111	CV3167021	single nucleotide variant	NM_001080414.4(CCDC88C):c.1434C>T (p.Thr478=)	not provided [RCV003854276]	likely benign	14	91321213	91321213	Human		name
405092431	CV3167893	single nucleotide variant	NM_001080414.4(CCDC88C):c.1884G>A (p.Glu628=)	not provided [RCV003852283]	likely benign	14	91313932	91313932	Human		name
405232971	CV3167954	single nucleotide variant	NM_001080414.4(CCDC88C):c.1383G>C (p.Ala461=)	not provided [RCV003865622]	likely benign	14	91321264	91321264	Human		name
405197499	CV3168274	single nucleotide variant	NM_001080414.4(CCDC88C):c.1983C>A (p.Val661=)	not provided [RCV003860406]	likely benign	14	91313833	91313833	Human		name
402479816	CV3170612	single nucleotide variant	NM_001080414.4(CCDC88C):c.1023C>T (p.Asp341=)	not provided [RCV003875814]	likely benign	14	91338032	91338032	Human		name
402485999	CV3171404	single nucleotide variant	NM_001080414.4(CCDC88C):c.2589C>T (p.Ser863=)	not provided [RCV003876431]	likely benign	14	91313227	91313227	Human		name
405255113	CV3171909	single nucleotide variant	NM_001080414.4(CCDC88C):c.2046G>A (p.Leu682=)	not provided [RCV003872032]	likely benign	14	91313770	91313770	Human		name
402475831	CV3173700	single nucleotide variant	NM_001080414.4(CCDC88C):c.1260T>C (p.Ile420=)	not provided [RCV003875238]	likely benign	14	91324861	91324861	Human		name
402476652	CV3173840	single nucleotide variant	NM_001080414.4(CCDC88C):c.1254T>C (p.Leu418=)	not provided [RCV003875378]	likely benign	14	91324867	91324867	Human		name
402477782	CV3173944	single nucleotide variant	NM_001080414.4(CCDC88C):c.2832G>C (p.Leu944=)	not provided [RCV003875482]	likely benign	14	91309891	91309891	Human		name
402469298	CV3174719	single nucleotide variant	NM_001080414.4(CCDC88C):c.1815G>A (p.Lys605=)	not provided [RCV003873829]	likely benign	14	91314001	91314001	Human		name
405253901	CV3174880	single nucleotide variant	NM_001080414.4(CCDC88C):c.1281C>T (p.Asn427=)	not provided [RCV003871331]	likely benign	14	91324840	91324840	Human		name
402465205	CV3177218	single nucleotide variant	NM_001080414.4(CCDC88C):c.2145C>T (p.Thr715=)	not provided [RCV003872849]	likely benign	14	91313671	91313671	Human		name
402466999	CV3177826	single nucleotide variant	NM_001080414.4(CCDC88C):c.1731G>A (p.Ser577=)	not provided [RCV003873264]	likely benign	14	91314085	91314085	Human		name
402516948	CV3178921	single nucleotide variant	NM_001080414.4(CCDC88C):c.2247G>T (p.Ala749=)	not provided [RCV003879354]	likely benign	14	91313569	91313569	Human		name
402509006	CV3182111	single nucleotide variant	NM_001080414.4(CCDC88C):c.2394G>A (p.Ala798=)	not provided [RCV003878764]	likely benign	14	91313422	91313422	Human		name
404980824	CV3183421	single nucleotide variant	NM_001080414.4(CCDC88C):c.1800G>A (p.Thr600=)	not provided [RCV003880444]	likely benign	14	91314016	91314016	Human		name
405000948	CV3183992	single nucleotide variant	NM_001080414.4(CCDC88C):c.2703C>T (p.Thr901=)	not provided [RCV003882575]	likely benign	14	91313113	91313113	Human		name
597646172	CV3641396	single nucleotide variant	NM_001080414.4(CCDC88C):c.203A>G (p.Asn68Ser)	Inborn genetic diseases [RCV004972766]	uncertain significance	14	91408726	91408726	Human	1	name
597965621	CV3751206	single nucleotide variant	NM_001080414.4(CCDC88C):c.1014G>A (p.Lys338=)	not provided [RCV005082768]	likely benign	14	91338041	91338041	Human		name
597919823	CV3765038	single nucleotide variant	NM_001080414.4(CCDC88C):c.2862C>T (p.Asp954=)	not provided [RCV005115054]	likely benign	14	91309861	91309861	Human		name
597873692	CV3768942	single nucleotide variant	NM_001080414.4(CCDC88C):c.1971C>T (p.Ala657=)	not provided [RCV005123112]	likely benign	14	91313845	91313845	Human		name
597940277	CV3772738	single nucleotide variant	NM_001080414.4(CCDC88C):c.2484C>G (p.Ala828=)	not provided [RCV005118368]	likely benign	14	91313332	91313332	Human		name
597930454	CV3780255	single nucleotide variant	NM_001080414.4(CCDC88C):c.1086C>T (p.Thr362=)	not provided [RCV005116575]	likely benign	14	91326021	91326021	Human		name
597967806	CV3824336	single nucleotide variant	NM_001080414.4(CCDC88C):c.1053G>A (p.Glu351=)	not provided [RCV005165559]	likely benign	14	91326054	91326054	Human		name
598233937	CV3893640	single nucleotide variant	NM_001080414.4(CCDC88C):c.221G>A (p.Arg74His)	not provided [RCV005256373]	uncertain significance	14	91408708	91408708	Human		name
12905580	CV413385	single nucleotide variant	NM_001080414.4(CCDC88C):c.185G>A (p.Arg62His)	not provided [RCV000487699]	uncertain significance	14	91408744	91408744	Human		name
13483960	CV441711	single nucleotide variant	NM_001080414.4(CCDC88C):c.184C>T (p.Arg62Cys)	Inborn genetic diseases [RCV002525022]\|not specified [RCV000518323]	uncertain significance	14	91408745	91408745	Human	1	name
13611614	CV514663	duplication	NM_001080414.4(CCDC88C):c.755dup (p.Ala253fs)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005010601]\|not provided [RCV000627588]	likely pathogenic\|uncertain significance	14	91339331	91339332	Human	1	name
15187784	CV703023	single nucleotide variant	NM_001080414.4(CCDC88C):c.2640G>A (p.Arg880=)	not provided [RCV000953689]	benign	14	91313176	91313176	Human		name
15143133	CV739380	single nucleotide variant	NM_001080414.4(CCDC88C):c.2814C>T (p.Val938=)	not provided [RCV000899789]	likely benign	14	91309909	91309909	Human		name
15179079	CV739381	single nucleotide variant	NM_001080414.4(CCDC88C):c.2568C>T (p.Asp856=)	CCDC88C-related disorder [RCV004551761]\|not provided [RCV000907025]	benign\|likely benign	14	91313248	91313248	Human	1	name , alternate_id
15140531	CV739382	single nucleotide variant	NM_001080414.4(CCDC88C):c.2553G>A (p.Lys851=)	not provided [RCV000899337]	likely benign	14	91313263	91313263	Human		name
15135507	CV739383	single nucleotide variant	NM_001080414.4(CCDC88C):c.2181G>A (p.Glu727=)	not provided [RCV000898471]	likely benign	14	91313635	91313635	Human		name
15159187	CV739385	single nucleotide variant	NM_001080414.4(CCDC88C):c.2118C>T (p.Asn706=)	not provided [RCV000902884]	likely benign	14	91313698	91313698	Human		name
15112079	CV754203	single nucleotide variant	NM_001080414.4(CCDC88C):c.2613G>A (p.Ala871=)	CCDC88C-related disorder [RCV004551823]\|not provided [RCV000916850]	likely benign	14	91313203	91313203	Human	1	name , alternate_id
15201829	CV754204	single nucleotide variant	NM_001080414.4(CCDC88C):c.2370C>T (p.Gly790=)	CCDC88C-related disorder [RCV004551797]\|not provided [RCV000913258]	likely benign	14	91313446	91313446	Human	1	name , alternate_id
15102199	CV754205	single nucleotide variant	NM_001080414.4(CCDC88C):c.1374C>T (p.Asn458=)	not provided [RCV000914924]	likely benign	14	91321273	91321273	Human		name
15100848	CV769951	single nucleotide variant	NM_001080414.4(CCDC88C):c.2289C>T (p.Ser763=)	not provided [RCV000936691]	likely benign	14	91313527	91313527	Human		name
15194310	CV769952	single nucleotide variant	NM_001080414.4(CCDC88C):c.1680G>A (p.Glu560=)	not provided [RCV000933607]	likely benign	14	91314136	91314136	Human		name
21074567	CV797089	single nucleotide variant	NM_001080414.4(CCDC88C):c.1341C>T (p.Asp447=)	CCDC88C-related disorder [RCV004553536]\|not provided [RCV000995238]	likely benign	14	91324780	91324780	Human	1	name , alternate_id
34891818	CV906378	duplication	NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001175308]	pathogenic	14	91408673	91408674	Human	1	name
9682009	CV167950	single nucleotide variant	NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554602]\|Spinocerebellar ataxia type 40 [RCV001554601]\|not provided [RCV002512569]\|not specified [RCV000145427]	benign	14	91307224	91307224	Human	2	name
9682014	CV167959	single nucleotide variant	NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)	Inborn genetic diseases [RCV001265961]\|not provided [RCV000995240]\|not specified [RCV000145435]	benign\|uncertain significance	14	91359660	91359660	Human	1	name
9682015	CV167960	single nucleotide variant	NM_001080414.4(CCDC88C):c.3372G>A (p.Thr1124=)	not provided [RCV000948415]\|not specified [RCV000145436]	benign	14	91303964	91303964	Human		name
9682016	CV167961	single nucleotide variant	NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=)	CCDC88C-related disorder [RCV004551274]\|not provided [RCV000972311]\|not specified [RCV000145437]	benign	14	91303943	91303943	Human	1	name , alternate_id
9682019	CV167964	single nucleotide variant	NM_001080414.4(CCDC88C):c.3969G>A (p.Leu1323=)	not provided [RCV002515950]\|not specified [RCV000145440]	benign	14	91294316	91294316	Human		name
9682020	CV167965	single nucleotide variant	NM_001080414.4(CCDC88C):c.4107G>A (p.Gln1369=)	not provided [RCV001709494]\|not specified [RCV000145441]	benign	14	91294178	91294178	Human		name
9682022	CV167967	single nucleotide variant	NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV001554380]\|Spinocerebellar ataxia type 40 [RCV001554379]\|not provided [RCV002515951]\|not specified [RCV000145443]	benign	14	91278005	91278005	Human	2	name
9682029	CV167974	single nucleotide variant	NM_001080414.4(CCDC88C):c.754C>G (p.Leu252Val)	not provided [RCV000886910]\|not specified [RCV000145450]	benign	14	91339333	91339333	Human		name
405204972	CV2858708	single nucleotide variant	NM_001080414.4(CCDC88C):c.4326C>T (p.Pro1442=)	not provided [RCV003551824]	benign	14	91289220	91289220	Human		name
405210635	CV2867792	single nucleotide variant	NM_001080414.4(CCDC88C):c.5688G>A (p.Leu1896=)	not provided [RCV003552524]	likely benign	14	91273024	91273024	Human		name
405194443	CV2872359	single nucleotide variant	NM_001080414.4(CCDC88C):c.3126G>A (p.Gly1042=)	not provided [RCV003550645]	likely benign	14	91307107	91307107	Human		name
405194063	CV2872396	single nucleotide variant	NM_001080414.4(CCDC88C):c.5980C>A (p.Arg1994=)	not provided [RCV003550672]	likely benign	14	91272732	91272732	Human		name
405214845	CV2876015	single nucleotide variant	NM_001080414.4(CCDC88C):c.690G>T (p.Lys230Asn)	not provided [RCV003553083]	benign	14	91339397	91339397	Human		name
405212223	CV2878638	single nucleotide variant	NM_001080414.4(CCDC88C):c.5049C>T (p.Ser1683=)	not provided [RCV003552761]	likely benign	14	91277931	91277931	Human		name
405238004	CV2881365	single nucleotide variant	NM_001080414.4(CCDC88C):c.3951G>A (p.Leu1317=)	not provided [RCV003556783]	likely benign	14	91297320	91297320	Human		name
405236889	CV2884786	single nucleotide variant	NM_001080414.4(CCDC88C):c.3939G>A (p.Ser1313=)	not provided [RCV003556574]	likely benign	14	91297332	91297332	Human		name
405152375	CV2885373	single nucleotide variant	NM_001080414.4(CCDC88C):c.3642T>C (p.Gly1214=)	not provided [RCV003561819]	likely benign	14	91300064	91300064	Human		name
405223441	CV2887485	single nucleotide variant	NM_001080414.4(CCDC88C):c.3732C>T (p.Asn1244=)	not provided [RCV003554273]	likely benign	14	91299974	91299974	Human		name
405216712	CV2897177	single nucleotide variant	NM_001080414.4(CCDC88C):c.3699G>A (p.Glu1233=)	not provided [RCV003567874]	likely benign	14	91300007	91300007	Human		name
405171951	CV2897594	single nucleotide variant	NM_001080414.4(CCDC88C):c.5631C>A (p.Arg1877=)	not provided [RCV003563196]	likely benign	14	91273081	91273081	Human		name
405167413	CV2900948	single nucleotide variant	NM_001080414.4(CCDC88C):c.3399C>T (p.Thr1133=)	not provided [RCV003562852]	likely benign	14	91303937	91303937	Human		name
405171412	CV2911942	single nucleotide variant	NM_001080414.4(CCDC88C):c.5193C>T (p.Pro1731=)	not provided [RCV003563073]	likely benign	14	91273519	91273519	Human		name
405195912	CV2921947	single nucleotide variant	NM_001080414.4(CCDC88C):c.4086G>A (p.Gln1362=)	not provided [RCV003565272]	likely benign	14	91294199	91294199	Human		name
405196051	CV2922201	single nucleotide variant	NM_001080414.4(CCDC88C):c.5151C>T (p.Ala1717=)	not provided [RCV003565377]	likely benign	14	91273561	91273561	Human		name
405213661	CV2924969	single nucleotide variant	NM_001080414.4(CCDC88C):c.5334T>C (p.Ser1778=)	not provided [RCV003567508]	likely benign	14	91273378	91273378	Human		name
405153088	CV2950539	single nucleotide variant	NM_001080414.4(CCDC88C):c.4710A>G (p.Pro1570=)	not provided [RCV003670159]	likely benign	14	91279296	91279296	Human		name
405153182	CV2950598	single nucleotide variant	NM_001080414.4(CCDC88C):c.5448C>T (p.Ser1816=)	not provided [RCV003670196]	likely benign	14	91273264	91273264	Human		name
405168883	CV2951087	single nucleotide variant	NM_001080414.4(CCDC88C):c.4041G>A (p.Gln1347=)	not provided [RCV003675255]	likely benign	14	91294244	91294244	Human		name
405159324	CV2955002	single nucleotide variant	NM_001080414.4(CCDC88C):c.4962C>T (p.Pro1654=)	not provided [RCV003670614]	likely benign	14	91278018	91278018	Human		name
405156614	CV2956532	single nucleotide variant	NM_001080414.4(CCDC88C):c.4929G>A (p.Gln1643=)	not provided [RCV003674384]	likely benign	14	91278051	91278051	Human		name
405156682	CV2960812	single nucleotide variant	NM_001080414.4(CCDC88C):c.3933C>T (p.Asp1311=)	not provided [RCV003670378]	likely benign	14	91297338	91297338	Human		name
405226908	CV2963396	single nucleotide variant	NM_001080414.4(CCDC88C):c.4749C>T (p.Ser1583=)	not provided [RCV003681580]	likely benign	14	91279257	91279257	Human		name
405222024	CV2966325	single nucleotide variant	NM_001080414.4(CCDC88C):c.5802C>T (p.Ala1934=)	not provided [RCV003680814]	likely benign	14	91272910	91272910	Human		name
405210964	CV2966879	single nucleotide variant	NM_001080414.4(CCDC88C):c.5271G>A (p.Leu1757=)	not provided [RCV003679387]	likely benign	14	91273441	91273441	Human		name
405244592	CV2968126	single nucleotide variant	NM_001080414.4(CCDC88C):c.6081T>C (p.Cys2027=)	not provided [RCV003684800]	likely benign	14	91272631	91272631	Human		name
405212806	CV2971169	single nucleotide variant	NM_001080414.4(CCDC88C):c.4230C>T (p.Ala1410=)	not provided [RCV003679630]	likely benign	14	91289316	91289316	Human		name
405236415	CV2973436	single nucleotide variant	NM_001080414.4(CCDC88C):c.3183G>A (p.Glu1061=)	not provided [RCV003683158]	likely benign	14	91307050	91307050	Human		name
405240409	CV2973887	single nucleotide variant	NM_001080414.4(CCDC88C):c.3087G>T (p.Gly1029=)	not provided [RCV003683942]	likely benign	14	91307146	91307146	Human		name
405187942	CV2974115	single nucleotide variant	NM_001080414.4(CCDC88C):c.3138G>A (p.Lys1046=)	not provided [RCV003676931]	likely benign	14	91307095	91307095	Human		name
405213653	CV2974475	single nucleotide variant	NM_001080414.4(CCDC88C):c.3492C>T (p.Tyr1164=)	not provided [RCV003679562]	likely benign	14	91303844	91303844	Human		name
405195497	CV2975839	single nucleotide variant	NM_001080414.4(CCDC88C):c.4356A>G (p.Arg1452=)	not provided [RCV003677614]	likely benign	14	91289190	91289190	Human		name
405230010	CV2977462	single nucleotide variant	NM_001080414.4(CCDC88C):c.4059G>C (p.Leu1353=)	not provided [RCV003711353]	likely benign	14	91294226	91294226	Human		name
405228060	CV2980633	single nucleotide variant	NM_001080414.4(CCDC88C):c.4536C>T (p.Pro1512=)	not provided [RCV003711047]	likely benign	14	91283423	91283423	Human		name
405214423	CV2981400	single nucleotide variant	NM_001080414.4(CCDC88C):c.5583C>T (p.Thr1861=)	not provided [RCV003709126]	likely benign	14	91273129	91273129	Human		name
405223833	CV2982883	single nucleotide variant	NM_001080414.4(CCDC88C):c.3867G>T (p.Ala1289=)	not provided [RCV003681094]	likely benign	14	91297404	91297404	Human		name
405248139	CV2984663	single nucleotide variant	NM_001080414.4(CCDC88C):c.4932G>A (p.Glu1644=)	not provided [RCV003721022]	likely benign	14	91278048	91278048	Human		name
405232429	CV2985188	single nucleotide variant	NM_001080414.4(CCDC88C):c.3735C>T (p.Ala1245=)	not provided [RCV003711690]	likely benign	14	91299971	91299971	Human		name
405193506	CV2985799	single nucleotide variant	NM_001080414.4(CCDC88C):c.5445C>A (p.Ala1815=)	not provided [RCV003706684]	likely benign	14	91273267	91273267	Human		name
405231435	CV2988193	single nucleotide variant	NM_001080414.4(CCDC88C):c.4413C>T (p.Arg1471=)	not provided [RCV003711491]	likely benign	14	91289133	91289133	Human		name
405239686	CV2993462	single nucleotide variant	NM_001080414.4(CCDC88C):c.3177C>T (p.Ala1059=)	not provided [RCV003718928]	likely benign	14	91307056	91307056	Human		name
405206871	CV2994429	single nucleotide variant	NM_001080414.4(CCDC88C):c.3987G>C (p.Gly1329=)	not provided [RCV003678849]	likely benign	14	91294298	91294298	Human		name
405207330	CV2994562	single nucleotide variant	NM_001080414.4(CCDC88C):c.4242C>G (p.Leu1414=)	not provided [RCV003678905]	likely benign	14	91289304	91289304	Human		name
405167515	CV3019074	single nucleotide variant	NM_001080414.4(CCDC88C):c.5553C>A (p.Pro1851=)	not provided [RCV003704424]	likely benign	14	91273159	91273159	Human		name
405176271	CV3023763	single nucleotide variant	NM_001080414.4(CCDC88C):c.4296C>T (p.Ser1432=)	not provided [RCV003705119]	likely benign	14	91289250	91289250	Human		name
405173971	CV3026730	single nucleotide variant	NM_001080414.4(CCDC88C):c.3531G>A (p.Leu1177=)	not provided [RCV003704817]	likely benign	14	91303805	91303805	Human		name
405153175	CV3031581	single nucleotide variant	NM_001080414.4(CCDC88C):c.3999A>G (p.Glu1333=)	not provided [RCV003703432]	likely benign	14	91294286	91294286	Human		name
405183547	CV3031997	single nucleotide variant	NM_001080414.4(CCDC88C):c.5241C>T (p.Pro1747=)	not provided [RCV003705783]	likely benign	14	91273471	91273471	Human		name
405221198	CV3032130	single nucleotide variant	NM_001080414.4(CCDC88C):c.3174G>T (p.Arg1058=)	not provided [RCV003709875]	likely benign	14	91307059	91307059	Human		name
405220683	CV3032191	single nucleotide variant	NM_001080414.4(CCDC88C):c.5337G>A (p.Leu1779=)	CCDC88C-related disorder [RCV004738770]\|not provided [RCV003709924]	likely benign	14	91273375	91273375	Human	1	name , alternate_id
405223673	CV3035810	single nucleotide variant	NM_001080414.4(CCDC88C):c.4074G>A (p.Glu1358=)	not provided [RCV003710343]	likely benign	14	91294211	91294211	Human		name
405156096	CV3037364	single nucleotide variant	NM_001080414.4(CCDC88C):c.5805G>C (p.Pro1935=)	not provided [RCV003703628]	likely benign	14	91272907	91272907	Human		name
405195363	CV3037554	single nucleotide variant	NM_001080414.4(CCDC88C):c.4383C>T (p.Pro1461=)	not provided [RCV003706855]	likely benign	14	91289163	91289163	Human		name
405235906	CV3037972	single nucleotide variant	NM_001080414.4(CCDC88C):c.5817C>T (p.Thr1939=)	not provided [RCV003712353]	likely benign	14	91272895	91272895	Human		name
405235976	CV3037988	single nucleotide variant	NM_001080414.4(CCDC88C):c.5694C>G (p.Pro1898=)	not provided [RCV003712365]	likely benign	14	91273018	91273018	Human		name
405236204	CV3038045	single nucleotide variant	NM_001080414.4(CCDC88C):c.3546G>T (p.Ser1182=)	not provided [RCV003712400]	likely benign	14	91303790	91303790	Human		name
405198944	CV3041005	single nucleotide variant	NM_001080414.4(CCDC88C):c.3531G>T (p.Leu1177=)	not provided [RCV003707251]	likely benign	14	91303805	91303805	Human		name
405252861	CV3044082	single nucleotide variant	NM_001080414.4(CCDC88C):c.6042C>T (p.Pro2014=)	not provided [RCV003722341]	likely benign	14	91272670	91272670	Human		name
405217411	CV3048849	single nucleotide variant	NM_001080414.4(CCDC88C):c.3639C>T (p.His1213=)	not provided [RCV003732832]	benign	14	91300067	91300067	Human		name
405176653	CV3049348	single nucleotide variant	NM_001080414.4(CCDC88C):c.6012C>A (p.Val2004=)	not provided [RCV003728338]	likely benign	14	91272700	91272700	Human		name
405251202	CV3049779	single nucleotide variant	NM_001080414.4(CCDC88C):c.4350G>A (p.Pro1450=)	not provided [RCV003721836]	likely benign	14	91289196	91289196	Human		name
405251843	CV3049989	single nucleotide variant	NM_001080414.4(CCDC88C):c.4686C>T (p.Asn1562=)	not provided [RCV003721914]	likely benign	14	91281470	91281470	Human		name
405245644	CV3051641	single nucleotide variant	NM_001080414.4(CCDC88C):c.5401T>C (p.Leu1801=)	not provided [RCV003720364]	likely benign	14	91273311	91273311	Human		name
405174482	CV3052554	single nucleotide variant	NM_001080414.4(CCDC88C):c.5709C>T (p.Ala1903=)	not provided [RCV003728174]	likely benign	14	91273003	91273003	Human		name
405250731	CV3052903	single nucleotide variant	NM_001080414.4(CCDC88C):c.844C>G (p.His282Asp)	not provided [RCV003721622]	uncertain significance	14	91338536	91338536	Human		name
405243644	CV3053867	single nucleotide variant	NM_001080414.4(CCDC88C):c.4539G>A (p.Ser1513=)	not provided [RCV003719783]	likely benign	14	91283420	91283420	Human		name
405178315	CV3056498	single nucleotide variant	NM_001080414.4(CCDC88C):c.4812C>T (p.Ser1604=)	not provided [RCV003728543]	likely benign	14	91278168	91278168	Human		name
405222636	CV3056903	single nucleotide variant	NM_001080414.4(CCDC88C):c.3189G>A (p.Glu1063=)	not provided [RCV003733473]	likely benign	14	91307044	91307044	Human		name
405221197	CV3060142	single nucleotide variant	NM_001080414.4(CCDC88C):c.3921C>T (p.His1307=)	not provided [RCV003733337]	likely benign	14	91297350	91297350	Human		name
405240625	CV3060870	single nucleotide variant	NM_001080414.4(CCDC88C):c.3072C>T (p.Phe1024=)	not provided [RCV003737184]\|not specified [RCV004701810]	likely benign	14	91307161	91307161	Human		name
405157379	CV3065098	single nucleotide variant	NM_001080414.4(CCDC88C):c.3591A>G (p.Thr1197=)	not provided [RCV003726856]	likely benign	14	91303745	91303745	Human		name
405227670	CV3065591	single nucleotide variant	NM_001080414.4(CCDC88C):c.6036G>A (p.Pro2012=)	not provided [RCV003734337]	likely benign	14	91272676	91272676	Human		name
405228004	CV3065696	single nucleotide variant	NM_001080414.4(CCDC88C):c.4665C>T (p.Ser1555=)	not provided [RCV003734395]	likely benign	14	91281491	91281491	Human		name
405206166	CV3068349	single nucleotide variant	NM_001080414.4(CCDC88C):c.4332G>A (p.Ser1444=)	not provided [RCV003731337]	likely benign	14	91289214	91289214	Human		name
405191726	CV3069866	single nucleotide variant	NM_001080414.4(CCDC88C):c.5331G>A (p.Leu1777=)	not provided [RCV003729688]	likely benign	14	91273381	91273381	Human		name
405191525	CV3069978	single nucleotide variant	NM_001080414.4(CCDC88C):c.4788T>C (p.His1596=)	not provided [RCV003729764]	likely benign	14	91278192	91278192	Human		name
405234838	CV3071172	single nucleotide variant	NM_001080414.4(CCDC88C):c.3708G>A (p.Ala1236=)	not provided [RCV003735695]	likely benign	14	91299998	91299998	Human		name
405235056	CV3071295	single nucleotide variant	NM_001080414.4(CCDC88C):c.4968C>T (p.Val1656=)	not provided [RCV003735737]	likely benign	14	91278012	91278012	Human		name
405234582	CV3073720	single nucleotide variant	NM_001080414.4(CCDC88C):c.3084G>A (p.Ala1028=)	not provided [RCV003735575]	likely benign	14	91307149	91307149	Human		name
405245839	CV3075569	single nucleotide variant	NM_001080414.4(CCDC88C):c.5916C>A (p.Gly1972=)	not provided [RCV003738574]	likely benign	14	91272796	91272796	Human		name
405237764	CV3077752	single nucleotide variant	NM_001080414.4(CCDC88C):c.5829G>T (p.Ala1943=)	not provided [RCV003736228]	likely benign	14	91272883	91272883	Human		name
405213314	CV3078196	single nucleotide variant	NM_001080414.4(CCDC88C):c.5232G>A (p.Pro1744=)	not provided [RCV003732308]	likely benign	14	91273480	91273480	Human		name
405235896	CV3079561	single nucleotide variant	NM_001080414.4(CCDC88C):c.3369C>A (p.Ser1123=)	not provided [RCV003735896]	benign	14	91303967	91303967	Human		name
405244189	CV3080249	single nucleotide variant	NM_001080414.4(CCDC88C):c.3288A>G (p.Thr1096=)	not provided [RCV003737964]	likely benign	14	91305834	91305834	Human		name
405205231	CV3117053	single nucleotide variant	NM_001080414.4(CCDC88C):c.4869G>A (p.Pro1623=)	not provided [RCV003822537]	likely benign	14	91278111	91278111	Human		name
405213010	CV3117874	single nucleotide variant	NM_001080414.4(CCDC88C):c.3777C>T (p.Asp1259=)	not provided [RCV003823473]	likely benign	14	91299929	91299929	Human		name
405176852	CV3119343	single nucleotide variant	NM_001080414.4(CCDC88C):c.5544C>T (p.Pro1848=)	not provided [RCV003819628]	likely benign	14	91273168	91273168	Human		name
405177599	CV3119349	single nucleotide variant	NM_001080414.4(CCDC88C):c.3246C>T (p.His1082=)	not provided [RCV003819634]	likely benign	14	91305876	91305876	Human		name
405206946	CV3120422	single nucleotide variant	NM_001080414.4(CCDC88C):c.5217C>A (p.Thr1739=)	not provided [RCV003822756]	likely benign	14	91273495	91273495	Human		name
405187926	CV3121252	single nucleotide variant	NM_001080414.4(CCDC88C):c.5412C>G (p.Ala1804=)	not provided [RCV003820708]	likely benign	14	91273300	91273300	Human		name
405162545	CV3125192	single nucleotide variant	NM_001080414.4(CCDC88C):c.5241C>G (p.Pro1747=)	not provided [RCV003818464]	likely benign	14	91273471	91273471	Human		name
405199559	CV3132213	single nucleotide variant	NM_001080414.4(CCDC88C):c.3318G>A (p.Glu1106=)	not provided [RCV003821806]	likely benign	14	91305804	91305804	Human		name
405153975	CV3135100	single nucleotide variant	NM_001080414.4(CCDC88C):c.4485C>T (p.Gly1495=)	not provided [RCV003840212]	likely benign	14	91283474	91283474	Human		name
405156025	CV3135240	single nucleotide variant	NM_001080414.4(CCDC88C):c.3867G>A (p.Ala1289=)	CCDC88C-related disorder [RCV004548716]\|not provided [RCV003840352]	likely benign	14	91297404	91297404	Human	1	name , alternate_id
405226260	CV3142361	duplication	NM_001080414.4(CCDC88C):c.1137dup (p.Val380fs)	not provided [RCV003847900]	pathogenic	14	91325969	91325970	Human		name
405226842	CV3142399	single nucleotide variant	NM_001080414.4(CCDC88C):c.6045C>G (p.Gly2015=)	not provided [RCV003847938]	likely benign	14	91272667	91272667	Human		name
405217595	CV3143739	single nucleotide variant	NM_001080414.4(CCDC88C):c.6009C>T (p.Ser2003=)	not provided [RCV003846709]	likely benign	14	91272703	91272703	Human		name
405204160	CV3144067	single nucleotide variant	NM_001080414.4(CCDC88C):c.3564C>T (p.Leu1188=)	not provided [RCV003844857]	likely benign	14	91303772	91303772	Human		name
405233889	CV3145119	single nucleotide variant	NM_001080414.4(CCDC88C):c.5460C>T (p.Ala1820=)	not provided [RCV003853376]	likely benign	14	91273252	91273252	Human		name
405211387	CV3146341	single nucleotide variant	NM_001080414.4(CCDC88C):c.5016G>A (p.Leu1672=)	not provided [RCV003845872]	likely benign	14	91277964	91277964	Human		name
405170428	CV3150005	single nucleotide variant	NM_001080414.4(CCDC88C):c.4311G>A (p.Leu1437=)	not provided [RCV003841476]	likely benign	14	91289235	91289235	Human		name
405194003	CV3150182	single nucleotide variant	NM_001080414.4(CCDC88C):c.4050G>A (p.Gln1350=)	not provided [RCV003843717]	likely benign	14	91294235	91294235	Human		name
405173328	CV3150456	single nucleotide variant	NM_001080414.4(CCDC88C):c.5928G>A (p.Gly1976=)	not provided [RCV003841730]	likely benign	14	91272784	91272784	Human		name
405170171	CV3151605	single nucleotide variant	NM_001080414.4(CCDC88C):c.5619C>T (p.Gly1873=)	not provided [RCV003857756]	likely benign	14	91273093	91273093	Human		name
405165207	CV3153255	single nucleotide variant	NM_001080414.4(CCDC88C):c.3297A>G (p.Lys1099=)	not provided [RCV003840990]	likely benign	14	91305825	91305825	Human		name
405219755	CV3154312	single nucleotide variant	NM_001080414.4(CCDC88C):c.4605C>T (p.Ile1535=)	not provided [RCV003847004]	likely benign	14	91283354	91283354	Human		name
405222268	CV3154906	single nucleotide variant	NM_001080414.4(CCDC88C):c.5424C>T (p.Ala1808=)	not provided [RCV003847401]	likely benign	14	91273288	91273288	Human		name
405190128	CV3156722	single nucleotide variant	NM_001080414.4(CCDC88C):c.6060C>T (p.Thr2020=)	not provided [RCV003859600]	likely benign	14	91272652	91272652	Human		name
405231009	CV3157319	single nucleotide variant	NM_001080414.4(CCDC88C):c.3945C>T (p.Thr1315=)	not provided [RCV003865269]	likely benign	14	91297326	91297326	Human		name
405223971	CV3158504	single nucleotide variant	NM_001080414.4(CCDC88C):c.5772C>T (p.Ser1924=)	not provided [RCV003864000]	likely benign	14	91272940	91272940	Human		name
405247350	CV3158766	single nucleotide variant	NM_001080414.4(CCDC88C):c.5196C>T (p.Thr1732=)	not provided [RCV003869108]	likely benign	14	91273516	91273516	Human		name
405247812	CV3159058	single nucleotide variant	NM_001080414.4(CCDC88C):c.5811C>T (p.Ala1937=)	not provided [RCV003869203]	likely benign	14	91272901	91272901	Human		name
405248302	CV3159287	single nucleotide variant	NM_001080414.4(CCDC88C):c.6054G>T (p.Pro2018=)	not provided [RCV003869432]	likely benign	14	91272658	91272658	Human		name
405181942	CV3159569	single nucleotide variant	NM_001080414.4(CCDC88C):c.4023G>A (p.Gln1341=)	not provided [RCV003858820]	likely benign	14	91294262	91294262	Human		name
405206261	CV3161958	single nucleotide variant	NM_001080414.4(CCDC88C):c.3435C>T (p.Ala1145=)	not provided [RCV003861452]	likely benign	14	91303901	91303901	Human		name
405207226	CV3162090	single nucleotide variant	NM_001080414.4(CCDC88C):c.4266G>A (p.Ser1422=)	not provided [RCV003861584]	likely benign	14	91289280	91289280	Human		name
405208851	CV3162519	single nucleotide variant	NM_001080414.4(CCDC88C):c.3688T>C (p.Leu1230=)	not provided [RCV003861818]\|not specified [RCV003994599]	likely benign	14	91300018	91300018	Human		name
405156068	CV3163462	single nucleotide variant	NM_001080414.4(CCDC88C):c.4884C>T (p.Leu1628=)	not provided [RCV003856708]	likely benign	14	91278096	91278096	Human		name
405203004	CV3165147	single nucleotide variant	NM_001080414.4(CCDC88C):c.3087G>C (p.Gly1029=)	not provided [RCV003861008]	likely benign	14	91307146	91307146	Human		name
405240031	CV3166081	single nucleotide variant	NM_001080414.4(CCDC88C):c.3153G>A (p.Glu1051=)	not provided [RCV003867093]	likely benign	14	91307080	91307080	Human		name
405196230	CV3168125	single nucleotide variant	NM_001080414.4(CCDC88C):c.4374C>T (p.Pro1458=)	not provided [RCV003860257]	likely benign	14	91289172	91289172	Human		name
405236523	CV3169048	single nucleotide variant	NM_001080414.4(CCDC88C):c.3393G>A (p.Ala1131=)	not provided [RCV003866327]	likely benign	14	91303943	91303943	Human		name
405248785	CV3169715	single nucleotide variant	NM_001080414.4(CCDC88C):c.4839G>A (p.Leu1613=)	not provided [RCV003869528]	likely benign	14	91278141	91278141	Human		name
405255432	CV3172413	single nucleotide variant	NM_001080414.4(CCDC88C):c.4032G>C (p.Leu1344=)	CCDC88C-related disorder [RCV004548739]\|not provided [RCV003872351]	likely benign	14	91294253	91294253	Human	1	name , alternate_id
405739543	CV3292323	single nucleotide variant	NM_001080414.4(CCDC88C):c.566C>T (p.Ser189Leu)	Inborn genetic diseases [RCV004430412]	uncertain significance	14	91339942	91339942	Human	1	name
405739504	CV3292329	single nucleotide variant	NM_001080414.4(CCDC88C):c.673C>T (p.Pro225Ser)	Inborn genetic diseases [RCV004430418]	uncertain significance	14	91339414	91339414	Human	1	name
405739496	CV3292331	single nucleotide variant	NM_001080414.4(CCDC88C):c.772G>C (p.Asp258His)	Inborn genetic diseases [RCV004430420]	uncertain significance	14	91339315	91339315	Human	1	name
405739490	CV3292332	single nucleotide variant	NM_001080414.4(CCDC88C):c.917G>A (p.Arg306Gln)	Inborn genetic diseases [RCV004430421]	uncertain significance	14	91338138	91338138	Human	1	name
405739484	CV3292333	single nucleotide variant	NM_001080414.4(CCDC88C):c.956G>T (p.Arg319Leu)	Inborn genetic diseases [RCV004430422]	uncertain significance	14	91338099	91338099	Human	1	name
407491320	CV3428470	single nucleotide variant	NM_001080414.4(CCDC88C):c.844C>A (p.His282Asn)	Inborn genetic diseases [RCV004604687]	uncertain significance	14	91338536	91338536	Human	1	name
597646091	CV3641380	single nucleotide variant	NM_001080414.4(CCDC88C):c.833T>C (p.Val278Ala)	Inborn genetic diseases [RCV004972751]	uncertain significance	14	91338547	91338547	Human	1	name
597646149	CV3641392	single nucleotide variant	NM_001080414.4(CCDC88C):c.923C>T (p.Ala308Val)	Inborn genetic diseases [RCV004972762]	uncertain significance	14	91338132	91338132	Human	1	name
597646166	CV3641395	single nucleotide variant	NM_001080414.4(CCDC88C):c.559G>A (p.Ala187Thr)	Inborn genetic diseases [RCV004972765]	uncertain significance	14	91339949	91339949	Human	1	name
597646177	CV3641398	single nucleotide variant	NM_001080414.4(CCDC88C):c.305C>T (p.Pro102Leu)	Inborn genetic diseases [RCV004972767]	uncertain significance	14	91359677	91359677	Human	1	name
597646182	CV3641399	single nucleotide variant	NM_001080414.4(CCDC88C):c.365A>G (p.Lys122Arg)	Inborn genetic diseases [RCV004972768]	uncertain significance	14	91343633	91343633	Human	1	name
597707626	CV3707642	duplication	NM_001080414.4(CCDC88C):c.2903dup (p.Leu968fs)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009398]	likely pathogenic	14	91308453	91308454	Human	1	name
597707635	CV3707643	duplication	NM_001080414.4(CCDC88C):c.2206dup (p.Glu736fs)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009399]	likely pathogenic	14	91313609	91313610	Human	1	name
597707646	CV3707644	deletion	NM_001080414.4(CCDC88C):c.1637del (p.Glu546fs)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009400]	likely pathogenic	14	91315678	91315678	Human	1	name
597707666	CV3707646	single nucleotide variant	NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005009402]	likely pathogenic	14	91339895	91339895	Human	1	name
597851543	CV3747022	single nucleotide variant	NM_001080414.4(CCDC88C):c.4341C>T (p.Ala1447=)	not provided [RCV005060650]	likely benign	14	91289205	91289205	Human		name
597951128	CV3765333	single nucleotide variant	NM_001080414.4(CCDC88C):c.3165G>A (p.Val1055=)	not provided [RCV005120977]	likely benign	14	91307068	91307068	Human		name
597871208	CV3768296	single nucleotide variant	NM_001080414.4(CCDC88C):c.5175C>A (p.Pro1725=)	not provided [RCV005122675]	likely benign	14	91273537	91273537	Human		name
597950924	CV3769375	deletion	NM_001080414.4(CCDC88C):c.1228del (p.Glu410fs)	not provided [RCV005120934]	pathogenic	14	91324893	91324893	Human		name
597860152	CV3770047	single nucleotide variant	NM_001080414.4(CCDC88C):c.5910G>A (p.Gly1970=)	not provided [RCV005105899]	likely benign	14	91272802	91272802	Human		name
597923398	CV3772422	single nucleotide variant	NM_001080414.4(CCDC88C):c.3285G>A (p.Leu1095=)	not provided [RCV005115572]	likely benign	14	91305837	91305837	Human		name
597940272	CV3772737	deletion	NM_001080414.4(CCDC88C):c.2485del (p.Gln829fs)	not provided [RCV005118367]	pathogenic	14	91313331	91313331	Human		name
597939293	CV3775313	single nucleotide variant	NM_001080414.4(CCDC88C):c.4008T>C (p.His1336=)	not provided [RCV005118139]	likely benign	14	91294277	91294277	Human		name
597876372	CV3775958	single nucleotide variant	NM_001080414.4(CCDC88C):c.5970C>G (p.Pro1990=)	not provided [RCV005123485]	likely benign	14	91272742	91272742	Human		name
597895730	CV3781928	single nucleotide variant	NM_001080414.4(CCDC88C):c.3768C>T (p.Gly1256=)	not provided [RCV005126356]	likely benign	14	91299938	91299938	Human		name
597956211	CV3787301	single nucleotide variant	NM_001080414.4(CCDC88C):c.3321C>T (p.His1107=)	not provided [RCV005122186]	likely benign	14	91305801	91305801	Human		name
597871124	CV3805955	single nucleotide variant	NM_001080414.4(CCDC88C):c.4434G>A (p.Val1478=)	not provided [RCV005148365]	likely benign	14	91289112	91289112	Human		name
597945587	CV3807370	single nucleotide variant	NM_001080414.4(CCDC88C):c.5475C>A (p.Ser1825=)	not provided [RCV005160005]	likely benign	14	91273237	91273237	Human		name
597919451	CV3811650	single nucleotide variant	NM_001080414.4(CCDC88C):c.3870G>A (p.Gln1290=)	not provided [RCV005155481]	likely benign	14	91297401	91297401	Human		name
597920311	CV3811767	single nucleotide variant	NM_001080414.4(CCDC88C):c.6060C>G (p.Thr2020=)	not provided [RCV005155598]	likely benign	14	91272652	91272652	Human		name
597858370	CV3816654	single nucleotide variant	NM_001080414.4(CCDC88C):c.913G>A (p.Ala305Thr)	not provided [RCV005146227]	uncertain significance	14	91338142	91338142	Human		name
597946940	CV3817801	single nucleotide variant	NM_001080414.4(CCDC88C):c.3837C>T (p.Thr1279=)	not provided [RCV005160268]	likely benign	14	91297434	91297434	Human		name
597972484	CV3823358	single nucleotide variant	NM_001080414.4(CCDC88C):c.3825G>A (p.Leu1275=)	not provided [RCV005167454]	likely benign	14	91297446	91297446	Human		name
597836244	CV3828392	single nucleotide variant	NM_001080414.4(CCDC88C):c.5475C>T (p.Ser1825=)	not provided [RCV005171284]	likely benign	14	91273237	91273237	Human		name
597976073	CV3832842	single nucleotide variant	NM_001080414.4(CCDC88C):c.3331C>T (p.Leu1111=)	not provided [RCV005169401]	likely benign	14	91305791	91305791	Human		name
598127356	CV3882617	single nucleotide variant	NM_001080414.4(CCDC88C):c.858G>T (p.Gln286His)	not provided [RCV005234147]	uncertain significance	14	91338522	91338522	Human		name
598123391	CV3884903	single nucleotide variant	NM_001080414.4(CCDC88C):c.4392C>T (p.Gly1464=)	not specified [RCV005238512]	likely benign	14	91289154	91289154	Human		name
598209943	CV3895003	single nucleotide variant	NM_001080414.4(CCDC88C):c.796G>A (p.Val266Ile)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005358464]	uncertain significance	14	91339291	91339291	Human	1	name
598192343	CV3943531	single nucleotide variant	NM_001080414.4(CCDC88C):c.682C>A (p.Pro228Thr)	Inborn genetic diseases [RCV005312766]	uncertain significance	14	91339405	91339405	Human	1	name
598192385	CV3943541	single nucleotide variant	NM_001080414.4(CCDC88C):c.325A>G (p.Arg109Gly)	Inborn genetic diseases [RCV005312774]	uncertain significance	14	91359657	91359657	Human	1	name
598192389	CV3943542	single nucleotide variant	NM_001080414.4(CCDC88C):c.362A>G (p.Lys121Arg)	Inborn genetic diseases [RCV005312775]	uncertain significance	14	91343636	91343636	Human	1	name
598192411	CV3943546	single nucleotide variant	NM_001080414.4(CCDC88C):c.608G>A (p.Arg203Gln)	Inborn genetic diseases [RCV005312779]	uncertain significance	14	91339900	91339900	Human	1	name
8604402	CV48460	single nucleotide variant	NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)	Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV000033088]\|Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV005007923]\|not provided [RCV002513314]	pathogenic	14	91338121	91338121	Human	1	name
8635327	CV90549	single nucleotide variant	NM_001080414.3(CCDC88C):c.4584C>T (p.Ala1528=)	Malignant melanoma [RCV000070647]	not provided	14	91283375	91283375	Human		name
150416134	CV1198574	single nucleotide variant	NM_001080414.4(CCDC88C):c.5626C>G (p.Pro1876Ala)	CCDC88C-related disorder [RCV004738348]\|not provided [RCV001575699]	likely benign\|uncertain significance	14	91273086	91273086	Human	1	alternate_id
151712023	CV1334290	single nucleotide variant	NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu)	CCDC88C-related disorder [RCV004738393]\|Spinocerebellar ataxia type 40 [RCV001839474]	uncertain significance	14	91272677	91272677	Human	2	alternate_id
9682008	CV167949	single nucleotide variant	NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)	CCDC88C-related disorder [RCV004551273]\|not provided [RCV000969369]\|not specified [RCV000145426]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	91313360	91313360	Human	1	alternate_id
9682023	CV167968	single nucleotide variant	NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His)	CCDC88C-related disorder [RCV004551275]\|not provided [RCV000974119]\|not specified [RCV000145444]	benign\|likely benign	14	91273058	91273058	Human	1	alternate_id
9682025	CV167970	single nucleotide variant	NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys)	CCDC88C-related disorder [RCV004551276]\|not provided [RCV000907291]\|not specified [RCV000145446]	benign	14	91272758	91272758	Human	1	alternate_id
155644629	CV1710315	single nucleotide variant	NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)	CCDC88C-related disorder [RCV004548263]\|Inborn genetic diseases [RCV003097831]\|not provided [RCV002293611]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91283421	91283421	Human	2	alternate_id
155909814	CV1980050	single nucleotide variant	NM_001080414.4(CCDC88C):c.1783C>T (p.Leu595Phe)	CCDC88C-related disorder [RCV004738594]\|not provided [RCV002613903]	uncertain significance	14	91314033	91314033	Human	1	alternate_id
156309227	CV2109414	single nucleotide variant	NM_001080414.4(CCDC88C):c.973G>T (p.Val325Leu)	CCDC88C-related disorder [RCV004738634]\|not provided [RCV002922977]	benign\|likely benign	14	91338082	91338082	Human	1	alternate_id
155997961	CV2122695	single nucleotide variant	NM_001080414.4(CCDC88C):c.5086C>T (p.Leu1696=)	CCDC88C-related disorder [RCV004548436]\|not provided [RCV002975042]	likely benign	14	91273626	91273626	Human	1	alternate_id
156087261	CV2134619	single nucleotide variant	NM_001080414.4(CCDC88C):c.3555C>T (p.Tyr1185=)	CCDC88C-related disorder [RCV004550327]\|not provided [RCV002979472]	benign\|likely benign	14	91303781	91303781	Human	1	alternate_id
156258459	CV2142326	single nucleotide variant	NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)	CCDC88C-related disorder [RCV004550329]\|Inborn genetic diseases [RCV004065175]\|not provided [RCV002988381]	likely benign\|conflicting interpretations of pathogenicity	14	91273134	91273134	Human	2	alternate_id
156288932	CV2333018	single nucleotide variant	NM_001080414.4(CCDC88C):c.358A>G (p.Ile120Val)	CCDC88C-related disorder [RCV004553846]\|Inborn genetic diseases [RCV002961463]\|not provided [RCV003546928]	benign\|uncertain significance	14	91343640	91343640	Human	2	alternate_id
329846878	CV2523993	microsatellite	NM_001080414.4(CCDC88C):c.3301_3302del (p.Ser1101fs)	CCDC88C-related disorder [RCV003226698]	likely pathogenic	14	91305820	91305821	Human		trait , alternate_id
401914521	CV2799284	single nucleotide variant	NM_001080414.4(CCDC88C):c.3930G>A (p.Met1310Ile)	CCDC88C-related disorder [RCV004552502]	uncertain significance	14	91297341	91297341	Human		trait , alternate_id
401909441	CV2803950	single nucleotide variant	NM_001080414.4(CCDC88C):c.767T>C (p.Leu256Pro)	CCDC88C-related disorder [RCV004552426]	uncertain significance	14	91339320	91339320	Human		trait , alternate_id
401917284	CV2829772	single nucleotide variant	NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)	CCDC88C-related disorder [RCV004554226]\|Inborn genetic diseases [RCV004364680]\|not provided [RCV003443816]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91272731	91272731	Human	2	alternate_id
402503764	CV2869401	single nucleotide variant	NM_001080414.4(CCDC88C):c.4704G>A (p.Ser1568=)	CCDC88C-related disorder [RCV004554245]\|not provided [RCV003546072]	likely benign	14	91279302	91279302	Human	1	alternate_id
402471425	CV3171490	single nucleotide variant	NM_001080414.4(CCDC88C):c.3520C>T (p.Leu1174=)	CCDC88C-related disorder [RCV004548735]\|not provided [RCV003874274]	likely benign	14	91303816	91303816	Human	1	alternate_id
405272232	CV3199277	single nucleotide variant	NM_001080414.4(CCDC88C):c.2266C>T (p.Arg756Cys)	CCDC88C-related disorder [RCV004550941]	uncertain significance	14	91313550	91313550	Human		trait , alternate_id
408369623	CV3514251	single nucleotide variant	NM_001080414.4(CCDC88C):c.5147C>T (p.Pro1716Leu)	CCDC88C-related disorder [RCV004737096]	uncertain significance	14	91273565	91273565	Human		trait , alternate_id
12850136	CV363652	single nucleotide variant	NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)	CCDC88C-related disorder [RCV004551417]\|Inborn genetic diseases [RCV004022259]\|not provided [RCV000442039]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91297376	91297376	Human	2	alternate_id
12849148	CV364151	single nucleotide variant	NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)	CCDC88C-related disorder [RCV004551420]\|Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV002506012]\|not provided [RCV000424866]\|not specified [RCV000516259]	benign\|likely benign	14	91272761	91272761	Human	2	alternate_id
13482816	CV441699	single nucleotide variant	NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)	CCDC88C-related disorder [RCV004553119]\|not provided [RCV000916016]\|not specified [RCV000517979]	likely benign\|uncertain significance	14	91273625	91273625	Human	1	alternate_id
13479604	CV441703	single nucleotide variant	NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)	CCDC88C-related disorder [RCV004553118]\|Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV000765187]\|Inborn genetic diseases [RCV002525023]\|not provided [RCV003441904]\|not specified [RCV000517040]	likely benign\|uncertain significance	14	91283380	91283380	Human	3	alternate_id
13481402	CV441705	single nucleotide variant	NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)	CCDC88C-related disorder [RCV004551659]\|not provided [RCV000969961]\|not specified [RCV000517561]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91289281	91289281	Human	1	alternate_id
13482182	CV441707	single nucleotide variant	NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)	CCDC88C-related disorder [RCV004551658]\|Hydrocephalus, nonsyndromic, autosomal recessive 1 [RCV000765188]\|Inborn genetic diseases [RCV002527464]\|not provided [RCV003441903]\|not specified [RCV000517793]	likely pathogenic\|likely benign\|uncertain significance	14	91313423	91313423	Human	3	alternate_id
13523640	CV488368	single nucleotide variant	NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)	CCDC88C-related disorder [RCV004553307]\|not provided [RCV000593257]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91273470	91273470	Human	1	alternate_id
13827683	CV578517	single nucleotide variant	NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)	CCDC88C-related disorder [RCV004547888]\|Hydrocephalus [RCV000714897]\|Inborn genetic diseases [RCV002532984]\|Spinocerebellar ataxia type 40 [RCV000714898]\|not provided [RCV000995233]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	91273461	91273461	Human	4	alternate_id
15200862	CV725854	single nucleotide variant	NM_001080414.4(CCDC88C):c.4852C>T (p.Arg1618Trp)	CCDC88C-related disorder [RCV004550075]\|Inborn genetic diseases [RCV003169239]\|not provided [RCV000891029]	likely benign	14	91278128	91278128	Human	2	alternate_id
15181557	CV725855	single nucleotide variant	NM_001080414.4(CCDC88C):c.3640G>A (p.Gly1214Ser)	CCDC88C-related disorder [RCV004550039]\|not provided [RCV000885792]	likely benign	14	91300066	91300066	Human	1	alternate_id
15179912	CV725857	single nucleotide variant	NM_001080414.4(CCDC88C):c.1158G>C (p.Glu386Asp)	CCDC88C-related disorder [RCV004550034]\|not provided [RCV000885400]	benign\|likely benign	14	91325949	91325949	Human	1	alternate_id
15178378	CV739372	single nucleotide variant	NM_001080414.4(CCDC88C):c.5635C>T (p.Arg1879Trp)	CCDC88C-related disorder [RCV004551759]\|not provided [RCV000906864]	benign\|likely benign	14	91273077	91273077	Human	1	alternate_id
15124339	CV739374	single nucleotide variant	NM_001080414.4(CCDC88C):c.5381C>G (p.Pro1794Arg)	CCDC88C-related disorder [RCV004551687]\|not provided [RCV000896570]	benign\|likely benign	14	91273331	91273331	Human	1	alternate_id
15187746	CV739376	single nucleotide variant	NM_001080414.4(CCDC88C):c.4173A>G (p.Gln1391=)	CCDC88C-related disorder [RCV004551770]\|not provided [RCV000909173]	likely benign	14	91291024	91291024	Human	1	alternate_id
15128075	CV739378	single nucleotide variant	NM_001080414.4(CCDC88C):c.3828C>T (p.His1276=)	CCDC88C-related disorder [RCV004551695]\|not provided [RCV000897211]	benign	14	91297443	91297443	Human	1	alternate_id
15109577	CV754198	single nucleotide variant	NM_001080414.4(CCDC88C):c.5335C>T (p.Leu1779=)	CCDC88C-related disorder [RCV004551818]\|not provided [RCV000916365]	benign\|likely benign	14	91273377	91273377	Human	1	alternate_id
15127976	CV754202	single nucleotide variant	NM_001080414.4(CCDC88C):c.3260A>G (p.Asn1087Ser)	CCDC88C-related disorder [RCV004551841]\|not provided [RCV000919579]	likely benign	14	91305862	91305862	Human	1	alternate_id
15137779	CV769947	single nucleotide variant	NM_001080414.4(CCDC88C):c.4383C>G (p.Pro1461=)	CCDC88C-related disorder [RCV004553374]\|not provided [RCV000943294]	likely benign	14	91289163	91289163	Human	1	alternate_id
402494480	CV3182989	insertion	NM_001080414.4(CCDC88C):c.4441+12_4441+13insCAGGA	not provided [RCV003877297]	likely benign	14	91289092	91289093	Human		name

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