| 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 |