Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001080414.4(CCDC88C):c.5058+1G>A	SNV Germline	Chr14:91277921	Pathogenic	Hydrocephalus, nonsyndromic, autosomal recessive 1	No Assertion Criteria Provided	CA130647	rs_387907320	1 SubmittersRCV000033087
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)	SNV Germline	Chr14:91338121	Pathogenic	Condition: not provided Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA130648	rs_369384363	3 SubmittersRCV002513314 RCV005007923 RCV000033088
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)	SNV Germline	Chr14:91313360	Conflicting classifications of pathogenicity	not specified Condition: not provided CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA171514	rs_61743881	7 SubmittersRCV000145426 RCV000969369 RCV004551273
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)	SNV Germline	Chr14:91359660	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA171522	rs_61745604	5 SubmittersRCV000145435 RCV000995240 RCV001265961
NM_001080414.4(CCDC88C):c.4167G>C (p.Met1389Ile)	SNV Germline	Chr14:91291030	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA235916	rs_786205489	1 SubmittersRCV000171227
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)	SNV Germline	Chr14:91297376	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability Epilepsy CCDC88C-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309192	rs_142539336	6 SubmittersRCV000442039 RCV005625587 RCV005625586 RCV004551417 RCV004022259
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)	SNV Germline	Chr14:91339918	Conflicting classifications of pathogenicity	Condition: not provided Hydrocephalus, nonsyndromic, autosomal recessive 1 Spinocerebellar ataxia type 40	Criteria Provided Conflicting Classifications	CA7310199	rs_200769097	4 SubmittersRCV000443675 RCV000765189
NM_001080414.4(CCDC88C):c.1219C>T (p.Arg407Ter)	SNV Germline	Chr14:91324902	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16619894	rs_1064796464	2 SubmittersRCV000484539
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)	SNV Germline	Chr14:91305920	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309413	rs_201044013	7 SubmittersRCV000501265 RCV000951314 RCV002527213
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)	SNV Germline	Chr14:91273625	Conflicting classifications of pathogenicity	Condition: not provided not specified CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7308736	rs_77154172	4 SubmittersRCV000916016 RCV000517979 RCV004553119
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)	SNV Germline	Chr14:91283380	Conflicting classifications of pathogenicity	not specified Hydrocephalus, nonsyndromic, autosomal recessive 1 Spinocerebellar ataxia type 40 Inborn genetic diseases Condition: not provided CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7308945	rs_201414940	5 SubmittersRCV000517040 RCV000765187 RCV002525023 RCV003441904 RCV004553118
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)	SNV Germline	Chr14:91313423	Conflicting classifications of pathogenicity	not specified Hydrocephalus, nonsyndromic, autosomal recessive 1 Spinocerebellar ataxia type 40 Condition: not provided Inborn genetic diseases CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7309671	rs_200650758	5 SubmittersRCV000517793 RCV000765188 RCV003441903 RCV002527464 RCV004551658
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)	SNV Germline	Chr14:91313938	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7309788	rs_78468999	2 SubmittersRCV000890518 RCV000516535
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)	SNV Germline	Chr14:91273470	Conflicting classifications of pathogenicity	Condition: not provided CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7308690	rs_200543687	3 SubmittersRCV000593257 RCV004553307
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)	SNV Germline	Chr14:91273461	Conflicting classifications of pathogenicity	Hydrocephalus Spinocerebellar ataxia type 40 Condition: not provided Inborn genetic diseases CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7308688	rs_142295786	5 SubmittersRCV000714897 RCV000714898 RCV000995233 RCV002532984 RCV004547888
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)	SNV Germline	Chr14:91273416	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7308680	rs_201931182	4 SubmittersRCV000974478 RCV004029982 RCV004768753
NM_001080414.4(CCDC88C):c.3358-6C>G	SNV Germline	Chr14:91303984	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7309353	rs_375400399	2 SubmittersRCV000895668 RCV005056664
NM_001080414.4(CCDC88C):c.809+7C>T	SNV Germline	Chr14:91339271	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7310109	rs_575390201	2 SubmittersRCV000898549
NM_001080414.4(CCDC88C):c.483+8C>T	SNV Germline	Chr14:91342372	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7310242	rs_201193446	3 SubmittersRCV000897411
NM_001080414.4(CCDC88C):c.1527+8G>A	SNV Germline	Chr14:91321112	Conflicting classifications of pathogenicity	Condition: not provided CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7309888	rs_151228192	3 SubmittersRCV000964528 RCV004553456
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=)	SNV Germline	Chr14:91273600	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7308730	rs_199730476	2 SubmittersRCV000995234
NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=)	SNV Germline	Chr14:91294304	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7309141	rs_201259963	3 SubmittersRCV000995236
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=)	SNV Germline	Chr14:91273381	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7308674	rs_759310053	3 SubmittersRCV001090626 RCV005436983
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)	SNV Unknown	Chr14:91313823	Likely pathogenic	Spinocerebellar ataxia type 40	Criteria Provided Single Submitter	CA265570300	rs_956104232	1 SubmittersRCV001257574
NM_001080414.4(CCDC88C):c.3195+6T>C	SNV Unknown	Chr14:91307032	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter	CA2499222779	rs_2139788894	1 SubmittersRCV001647219
NM_001080414.4(CCDC88C):c.821C>T (p.Thr274Ile)	SNV Unknown	Chr14:91338559	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter	CA390612362	rs_1324937983	1 SubmittersRCV001647214
NM_001080414.4(CCDC88C):c.4768+6T>C	SNV Germline	Chr14:91279232	Conflicting classifications of pathogenicity	Hydrocephalus, nonsyndromic, autosomal recessive 1 Condition: not provided CCDC88C-related disorder not specified	Criteria Provided Conflicting Classifications	CA7308846	rs_183312399	4 SubmittersRCV001336140 RCV002546763 RCV004548182 RCV005236812
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)	SNV Germline	Chr14:91339379	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7310139	rs_745338278	2 SubmittersRCV001726927
NM_001080414.4(CCDC88C):c.4113-19C>T	SNV Germline	Chr14:91291103	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA7309099	rs_560507685	2 SubmittersRCV002223646
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)	SNV Germline	Chr14:91283421	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7308958	rs_3950029	4 SubmittersRCV002293611 RCV003097831 RCV004548263
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)	SNV Germline	Chr14:91313750	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309750	rs_185401166	3 SubmittersRCV002293787 RCV003101693
NM_001080414.4(CCDC88C):c.1720C>T (p.Arg574Trp)	SNV Germline	Chr14:91314096	Conflicting classifications of pathogenicity	Condition: not provided Hydrocephalus, nonsyndromic, autosomal recessive 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309829	rs_762029178	3 SubmittersRCV003067367 RCV004720377 RCV004070414
NM_001080414.4(CCDC88C):c.3097G>A (p.Ala1033Thr)	SNV Germline	Chr14:91307136	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309460	rs_769572282	2 SubmittersRCV003064387 RCV003274173
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)	SNV Germline	Chr14:91313166	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309593	rs_185802741	3 SubmittersRCV003069809 RCV003093557
NM_001080414.4(CCDC88C):c.5209G>A (p.Ala1737Thr)	SNV Germline	Chr14:91273503	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA7308708	rs_574962577	3 SubmittersRCV003073149 RCV003091639 RCV005010987
NM_001080414.4(CCDC88C):c.2386C>T (p.Arg796Cys)	SNV Germline	Chr14:91313430	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7309674	rs_372425024	2 SubmittersRCV003082602 RCV004690366
NM_001080414.4(CCDC88C):c.1703G>A (p.Arg568Gln)	SNV Germline	Chr14:91314113	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7309835	rs_772843353	2 SubmittersRCV002599197 RCV004963465
NM_001080414.4(CCDC88C):c.4442-2A>C	SNV Germline	Chr14:91283519	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390614151	rs_1283433071	1 SubmittersRCV002591739
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)	SNV Germline	Chr14:91313451	Conflicting classifications of pathogenicity	Condition: not provided CCDC88C-related disorder not specified	Criteria Provided Conflicting Classifications	CA7309682	rs_200079946	3 SubmittersRCV002637709 RCV004550443 RCV004587442
NM_001080414.4(CCDC88C):c.4885G>A (p.Gly1629Ser)	SNV Germline	Chr14:91278095	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA390612397	rs_1285918522	2 SubmittersRCV002629231 RCV004070820
NM_001080414.4(CCDC88C):c.3785A>G (p.Asn1262Ser)	SNV Germline	Chr14:91297486	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA390618809	rs_1366859752	2 SubmittersRCV002741977 RCV002775179
NM_001080414.4(CCDC88C):c.4889G>T (p.Arg1630Leu)	SNV Germline	Chr14:91278091	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA265523969	rs_115510695	2 SubmittersRCV002914262 RCV002937344
NM_001080414.4(CCDC88C):c.4132C>T (p.Arg1378Ter)	SNV Germline	Chr14:91291065	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390615442	rs_765256075	1 SubmittersRCV002937893
NM_001080414.4(CCDC88C):c.973G>T (p.Val325Leu)	SNV Germline	Chr14:91338082	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7310034	rs_200244690	4 SubmittersRCV002922977 RCV005626706 RCV004738634
NM_001080414.4(CCDC88C):c.3967-1G>C	SNV Germline	Chr14:91294319	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390617258	rs_1890903910	1 SubmittersRCV002922119
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)	SNV Germline	Chr14:91273551	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7308720	rs_183319966	3 SubmittersRCV002954046 RCV004966224
NM_001080414.4(CCDC88C):c.5545G>A (p.Ala1849Thr)	SNV Germline	Chr14:91273167	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7308637	rs_374858033	2 SubmittersRCV002958505 RCV004966213
NM_001080414.4(CCDC88C):c.4384G>A (p.Ala1462Thr)	SNV Germline	Chr14:91289162	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7309026	rs_200081065	2 SubmittersRCV002971687 RCV002971686
NM_001080414.4(CCDC88C):c.3700C>T (p.Arg1234Ter)	SNV Germline	Chr14:91300006	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390620221	rs_1267399794	1 SubmittersRCV003002065
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)	SNV Germline	Chr14:91273134	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7308629	rs_200488874	4 SubmittersRCV002988381 RCV004065175 RCV004550329
NM_001080414.4(CCDC88C):c.358A>G (p.Ile120Val)	SNV Germline	Chr14:91343640	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided CCDC88C-related disorder	Criteria Provided Conflicting Classifications	CA7310277	rs_201675394	3 SubmittersRCV002961463 RCV003546928 RCV004553846
NM_001080414.4(CCDC88C):c.3271A>G (p.Ser1091Gly)	SNV Germline	Chr14:91305851	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7309401	rs_754233469	2 SubmittersRCV003204577 RCV003389926
NM_001080414.4(CCDC88C):c.2296G>A (p.Ala766Thr)	SNV Germline	Chr14:91313520	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7309695	rs_575697663	2 SubmittersRCV003262070 RCV003730507
NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)	SNV Germline	Chr14:91273334	Conflicting classifications of pathogenicity	Condition: not provided Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA265518079	rs_945447694	2 SubmittersRCV003393554 RCV004720394
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)	SNV Germline	Chr14:91272731	Conflicting classifications of pathogenicity	Condition: not provided CCDC88C-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7308540	rs_187949234	4 SubmittersRCV003443816 RCV004554226 RCV004364680
NM_001080414.4(CCDC88C):c.5613T>A (p.Cys1871Ter)	SNV Germline	Chr14:91273099	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390609275	rs_2544238989	1 SubmittersRCV003544339
NM_001080414.4(CCDC88C):c.810-1G>A	SNV Germline	Chr14:91338571	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390612418	rs_867122896	1 SubmittersRCV003544388
NM_001080414.4(CCDC88C):c.2871C>A (p.Tyr957Ter)	SNV Germline	Chr14:91308486	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390626931	rs_2544371503	1 SubmittersRCV003579306
NM_001080414.4(CCDC88C):c.302T>A (p.Leu101Ter)	SNV Germline	Chr14:91359680	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390617167	rs_2139903566	1 SubmittersRCV003573171
NM_001080414.4(CCDC88C):c.5575G>T (p.Glu1859Ter)	SNV Germline	Chr14:91273137	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390609350	rs_2544239154	1 SubmittersRCV003551921
NM_001080414.4(CCDC88C):c.3043G>T (p.Gly1015Ter)	SNV Germline	Chr14:91307190	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390625616	rs_2544366495	1 SubmittersRCV003579901
NM_001080414.4(CCDC88C):c.1768A>T (p.Lys590Ter)	SNV Germline	Chr14:91314048	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390632988	rs_1891980457	1 SubmittersRCV003566048
NM_001080414.4(CCDC88C):c.3196-1G>A	SNV Germline	Chr14:91305927	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390623770	rs_2544361669	1 SubmittersRCV003563415
NM_001080414.4(CCDC88C):c.5134C>T (p.Gln1712Ter)	SNV Germline	Chr14:91273578	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390610807	rs_1222992251	1 SubmittersRCV003567020
NM_001080414.4(CCDC88C):c.4768+1G>A	SNV Germline	Chr14:91279237	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390612879	rs_2544256678	1 SubmittersRCV003578361
NM_001080414.4(CCDC88C):c.1051-2A>G	SNV Germline	Chr14:91326058	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390637554	rs_1892571828	1 SubmittersRCV003564834
NM_001080414.4(CCDC88C):c.3187G>T (p.Glu1063Ter)	SNV Germline	Chr14:91307046	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390624896	rs_2544365573	1 SubmittersRCV003580592
NM_001080414.4(CCDC88C):c.4112+1G>A	SNV Germline	Chr14:91294172	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390616206	rs_2544313833	1 SubmittersRCV003581054
NM_001080414.4(CCDC88C):c.1606A>T (p.Arg536Ter)	SNV Germline	Chr14:91315709	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390634091	rs_773272089	1 SubmittersRCV003671157
NM_001080414.4(CCDC88C):c.161+1G>A	SNV Germline	Chr14:91416737	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390618549	rs_2544651188	1 SubmittersRCV003667288
NM_001080414.4(CCDC88C):c.3555C>G (p.Tyr1185Ter)	SNV Germline	Chr14:91303781	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390621731	rs_375940741	1 SubmittersRCV003676985
NM_001080414.4(CCDC88C):c.5308C>T (p.Gln1770Ter)	SNV Germline	Chr14:91273404	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390610136	rs_2544240590	1 SubmittersRCV003693992
NM_001080414.4(CCDC88C):c.3492C>G (p.Tyr1164Ter)	SNV Germline	Chr14:91303844	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390621911	rs_987453838	1 SubmittersRCV003713625
NM_001080414.4(CCDC88C):c.1624C>T (p.Gln542Ter)	SNV Germline	Chr14:91315691	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390634015	rs_2544397939	1 SubmittersRCV003711839
NM_001080414.4(CCDC88C):c.2485C>T (p.Gln829Ter)	SNV Germline	Chr14:91313331	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390629950	rs_2544389056	1 SubmittersRCV003719043
NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)	SNV Germline	Chr14:91314114	Pathogenic	Condition: not provided Spinocerebellar ataxia type 40	Criteria Provided Single Submitter	CA7309836	rs_777488098	2 SubmittersRCV003721104 RCV004765940
NM_001080414.4(CCDC88C):c.4442-2A>G	SNV Germline	Chr14:91283519	Likely pathogenic	Condition: not provided Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA390614150	rs_1283433071	2 SubmittersRCV003690339 RCV005013098
NM_001080414.4(CCDC88C):c.1927G>T (p.Glu643Ter)	SNV Germline	Chr14:91313889	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390632639	rs_779101769	1 SubmittersRCV003695371
NM_001080414.4(CCDC88C):c.3636-2A>C	SNV Germline	Chr14:91300072	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390620576	rs_2544336575	1 SubmittersRCV003696657
NM_001080414.4(CCDC88C):c.3887G>A (p.Trp1296Ter)	SNV Germline	Chr14:91297384	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390618293	rs_2544325280	1 SubmittersRCV003699714
NM_001080414.4(CCDC88C):c.3754C>T (p.Gln1252Ter)	SNV Germline	Chr14:91299952	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA7309225	rs_764782020	1 SubmittersRCV003708423
NM_001080414.4(CCDC88C):c.4105C>T (p.Gln1369Ter)	SNV Germline	Chr14:91294180	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA265544792	rs_887206656	1 SubmittersRCV003737782
NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)	SNV Germline	Chr14:91273611	Pathogenic/Likely pathogenic	Condition: not provided Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA390610874	rs_1475150514	2 SubmittersRCV003819017 RCV005013204
NM_001080414.4(CCDC88C):c.3779+1G>A	SNV Germline	Chr14:91299926	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA390619715	rs_2544335257	1 SubmittersRCV003846050
NM_001080414.4(CCDC88C):c.1597G>T (p.Glu533Ter)	SNV Germline	Chr14:91315718	Likely pathogenic	Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter	CA390634125	rs_1409621336	1 SubmittersRCV003993540
NM_001080414.4(CCDC88C):c.5584C>T (p.Pro1862Ser)	SNV Germline	Chr14:91273128	Conflicting classifications of pathogenicity	Hydrocephalus, nonsyndromic, autosomal recessive 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7308628	rs_369069440	2 SubmittersRCV005358099 RCV004430411
NM_001080414.4(CCDC88C):c.3160C>T (p.Arg1054Ter)	SNV Germline	Chr14:91307073	Likely pathogenic	Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter	CA7309453	rs_562306188	1 SubmittersRCV004547297
NM_001080414.4(CCDC88C):c.4495C>T (p.Arg1499Cys)	SNV Germline	Chr14:91283464	Conflicting classifications of pathogenicity	Inborn genetic diseases Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004604693 RCV005358123
NM_001080414.4(CCDC88C):c.341-2A>G	SNV Germline	Chr14:91343659	Likely pathogenic	CCDC88C-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV004782117
NM_001080414.4(CCDC88C):c.4397A>G (p.Asn1466Ser)	SNV Germline	Chr14:91289149	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV004794029 RCV004968662
NM_001080414.4(CCDC88C):c.5250C>G (p.Tyr1750Ter)	SNV Germline	Chr14:91273462	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009382
NM_001080414.4(CCDC88C):c.4768+1G>T	SNV Germline	Chr14:91279237	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009384
NM_001080414.4(CCDC88C):c.4096G>T (p.Glu1366Ter)	SNV Germline	Chr14:91294189	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009387
NM_001080414.4(CCDC88C):c.3550G>T (p.Glu1184Ter)	SNV Germline	Chr14:91303786	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009391
NM_001080414.4(CCDC88C):c.3358-2A>C	SNV Germline	Chr14:91303980	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005009392 RCV005112585
NM_001080414.4(CCDC88C):c.3195+1G>T	SNV Germline	Chr14:91307037	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009394
NM_001080414.4(CCDC88C):c.3013A>T (p.Lys1005Ter)	SNV Germline	Chr14:91307220	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009397
NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)	SNV Germline	Chr14:91339895	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009402
NM_001080414.4(CCDC88C):c.483+1G>T	SNV Germline	Chr14:91342379	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009404
NM_001080414.4(CCDC88C):c.340+1G>T	SNV Germline	Chr14:91359641	Likely pathogenic	Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005009405
NM_001080414.4(CCDC88C):c.162-2A>G	SNV Germline	Chr14:91408769	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005121632
NM_001080414.4(CCDC88C):c.4777G>T (p.Glu1593Ter)	SNV Germline	Chr14:91278203	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005145145
NM_001080414.4(CCDC88C):c.4631-1G>C	SNV Germline	Chr14:91281526	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005169643

NM_001080414.4(CCDC88C):c.5058+1G>A

SNV
Germline

Chr14:91277921

Pathogenic

Hydrocephalus, nonsyndromic, autosomal recessive 1

No Assertion Criteria Provided

CA130647

rs_387907320

1 SubmittersRCV000033087

NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)

SNV
Germline

Chr14:91338121

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA130648

rs_369384363

3 SubmittersRCV002513314 RCV005007923 RCV000033088

NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)

SNV
Germline

Chr14:91313360

Conflicting classifications of pathogenicity

not specified
Condition: not provided
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA171514

rs_61743881

7 SubmittersRCV000145426 RCV000969369 RCV004551273

NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)

SNV
Germline

Chr14:91359660

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA171522

rs_61745604

5 SubmittersRCV000145435 RCV000995240 RCV001265961

NM_001080414.4(CCDC88C):c.4167G>C (p.Met1389Ile)

SNV
Germline

Chr14:91291030

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA235916

rs_786205489

1 SubmittersRCV000171227

NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)

SNV
Germline

Chr14:91297376

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
Epilepsy
CCDC88C-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309192

rs_142539336

6 SubmittersRCV000442039 RCV005625587 RCV005625586 RCV004551417 RCV004022259

NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)

SNV
Germline

Chr14:91339918

Conflicting classifications of pathogenicity

Condition: not provided
Hydrocephalus, nonsyndromic, autosomal recessive 1
Spinocerebellar ataxia type 40

Criteria Provided
Conflicting Classifications

CA7310199

rs_200769097

4 SubmittersRCV000443675 RCV000765189

NM_001080414.4(CCDC88C):c.1219C>T (p.Arg407Ter)

SNV
Germline

Chr14:91324902

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16619894

rs_1064796464

2 SubmittersRCV000484539

NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)

SNV
Germline

Chr14:91305920

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309413

rs_201044013

7 SubmittersRCV000501265 RCV000951314 RCV002527213

NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)

SNV
Germline

Chr14:91273625

Conflicting classifications of pathogenicity

Condition: not provided
not specified
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7308736

rs_77154172

4 SubmittersRCV000916016 RCV000517979 RCV004553119

NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)

SNV
Germline

Chr14:91283380

Conflicting classifications of pathogenicity

not specified
Hydrocephalus, nonsyndromic, autosomal recessive 1
Spinocerebellar ataxia type 40
Inborn genetic diseases
Condition: not provided
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7308945

rs_201414940

5 SubmittersRCV000517040 RCV000765187 RCV002525023 RCV003441904 RCV004553118

NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)

SNV
Germline

Chr14:91313423

Conflicting classifications of pathogenicity

not specified
Hydrocephalus, nonsyndromic, autosomal recessive 1
Spinocerebellar ataxia type 40
Condition: not provided
Inborn genetic diseases
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7309671

rs_200650758

5 SubmittersRCV000517793 RCV000765188 RCV003441903 RCV002527464 RCV004551658

NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)

SNV
Germline

Chr14:91313938

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7309788

rs_78468999

2 SubmittersRCV000890518 RCV000516535

NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)

SNV
Germline

Chr14:91273470

Conflicting classifications of pathogenicity

Condition: not provided
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7308690

rs_200543687

3 SubmittersRCV000593257 RCV004553307

NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)

SNV
Germline

Chr14:91273461

Conflicting classifications of pathogenicity

Hydrocephalus
Spinocerebellar ataxia type 40
Condition: not provided
Inborn genetic diseases
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7308688

rs_142295786

5 SubmittersRCV000714897 RCV000714898 RCV000995233 RCV002532984 RCV004547888

NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)

SNV
Germline

Chr14:91273416

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7308680

rs_201931182

4 SubmittersRCV000974478 RCV004029982 RCV004768753

NM_001080414.4(CCDC88C):c.3358-6C>G

SNV
Germline

Chr14:91303984

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7309353

rs_375400399

2 SubmittersRCV000895668 RCV005056664

NM_001080414.4(CCDC88C):c.809+7C>T

SNV
Germline

Chr14:91339271

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7310109

rs_575390201

2 SubmittersRCV000898549

NM_001080414.4(CCDC88C):c.483+8C>T

SNV
Germline

Chr14:91342372

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7310242

rs_201193446

3 SubmittersRCV000897411

NM_001080414.4(CCDC88C):c.1527+8G>A

SNV
Germline

Chr14:91321112

Conflicting classifications of pathogenicity

Condition: not provided
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7309888

rs_151228192

3 SubmittersRCV000964528 RCV004553456

NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=)

SNV
Germline

Chr14:91273600

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7308730

rs_199730476

2 SubmittersRCV000995234

NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=)

SNV
Germline

Chr14:91294304

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7309141

rs_201259963

3 SubmittersRCV000995236

NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=)

SNV
Germline

Chr14:91273381

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7308674

rs_759310053

3 SubmittersRCV001090626 RCV005436983

NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)

SNV
Unknown

Chr14:91313823

Likely pathogenic

Spinocerebellar ataxia type 40

Criteria Provided
Single Submitter

CA265570300

rs_956104232

1 SubmittersRCV001257574

NM_001080414.4(CCDC88C):c.3195+6T>C

SNV
Unknown

Chr14:91307032

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA2499222779

rs_2139788894

1 SubmittersRCV001647219

NM_001080414.4(CCDC88C):c.821C>T (p.Thr274Ile)

SNV
Unknown

Chr14:91338559

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA390612362

rs_1324937983

1 SubmittersRCV001647214

NM_001080414.4(CCDC88C):c.4768+6T>C

SNV
Germline

Chr14:91279232

Conflicting classifications of pathogenicity

Hydrocephalus, nonsyndromic, autosomal recessive 1
Condition: not provided
CCDC88C-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7308846

rs_183312399

4 SubmittersRCV001336140 RCV002546763 RCV004548182 RCV005236812

NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)

SNV
Germline

Chr14:91339379

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7310139

rs_745338278

2 SubmittersRCV001726927

NM_001080414.4(CCDC88C):c.4113-19C>T

SNV
Germline

Chr14:91291103

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA7309099

rs_560507685

2 SubmittersRCV002223646

NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)

SNV
Germline

Chr14:91283421

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7308958

rs_3950029

4 SubmittersRCV002293611 RCV003097831 RCV004548263

NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)

SNV
Germline

Chr14:91313750

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309750

rs_185401166

3 SubmittersRCV002293787 RCV003101693

NM_001080414.4(CCDC88C):c.1720C>T (p.Arg574Trp)

SNV
Germline

Chr14:91314096

Conflicting classifications of pathogenicity

Condition: not provided
Hydrocephalus, nonsyndromic, autosomal recessive 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309829

rs_762029178

3 SubmittersRCV003067367 RCV004720377 RCV004070414

NM_001080414.4(CCDC88C):c.3097G>A (p.Ala1033Thr)

SNV
Germline

Chr14:91307136

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309460

rs_769572282

2 SubmittersRCV003064387 RCV003274173

NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)

SNV
Germline

Chr14:91313166

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309593

rs_185802741

3 SubmittersRCV003069809 RCV003093557

NM_001080414.4(CCDC88C):c.5209G>A (p.Ala1737Thr)

SNV
Germline

Chr14:91273503

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA7308708

rs_574962577

3 SubmittersRCV003073149 RCV003091639 RCV005010987

NM_001080414.4(CCDC88C):c.2386C>T (p.Arg796Cys)

SNV
Germline

Chr14:91313430

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7309674

rs_372425024

2 SubmittersRCV003082602 RCV004690366

NM_001080414.4(CCDC88C):c.1703G>A (p.Arg568Gln)

SNV
Germline

Chr14:91314113

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7309835

rs_772843353

2 SubmittersRCV002599197 RCV004963465

NM_001080414.4(CCDC88C):c.4442-2A>C

SNV
Germline

Chr14:91283519

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390614151

rs_1283433071

1 SubmittersRCV002591739

NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)

SNV
Germline

Chr14:91313451

Conflicting classifications of pathogenicity

Condition: not provided
CCDC88C-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7309682

rs_200079946

3 SubmittersRCV002637709 RCV004550443 RCV004587442

NM_001080414.4(CCDC88C):c.4885G>A (p.Gly1629Ser)

SNV
Germline

Chr14:91278095

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA390612397

rs_1285918522

2 SubmittersRCV002629231 RCV004070820

NM_001080414.4(CCDC88C):c.3785A>G (p.Asn1262Ser)

SNV
Germline

Chr14:91297486

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA390618809

rs_1366859752

2 SubmittersRCV002741977 RCV002775179

NM_001080414.4(CCDC88C):c.4889G>T (p.Arg1630Leu)

SNV
Germline

Chr14:91278091

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA265523969

rs_115510695

2 SubmittersRCV002914262 RCV002937344

NM_001080414.4(CCDC88C):c.4132C>T (p.Arg1378Ter)

SNV
Germline

Chr14:91291065

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390615442

rs_765256075

1 SubmittersRCV002937893

NM_001080414.4(CCDC88C):c.973G>T (p.Val325Leu)

SNV
Germline

Chr14:91338082

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7310034

rs_200244690

4 SubmittersRCV002922977 RCV005626706 RCV004738634

NM_001080414.4(CCDC88C):c.3967-1G>C

SNV
Germline

Chr14:91294319

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390617258

rs_1890903910

1 SubmittersRCV002922119

NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)

SNV
Germline

Chr14:91273551

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7308720

rs_183319966

3 SubmittersRCV002954046 RCV004966224

NM_001080414.4(CCDC88C):c.5545G>A (p.Ala1849Thr)

SNV
Germline

Chr14:91273167

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7308637

rs_374858033

2 SubmittersRCV002958505 RCV004966213

NM_001080414.4(CCDC88C):c.4384G>A (p.Ala1462Thr)

SNV
Germline

Chr14:91289162

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7309026

rs_200081065

2 SubmittersRCV002971687 RCV002971686

NM_001080414.4(CCDC88C):c.3700C>T (p.Arg1234Ter)

SNV
Germline

Chr14:91300006

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390620221

rs_1267399794

1 SubmittersRCV003002065

NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)

SNV
Germline

Chr14:91273134

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7308629

rs_200488874

4 SubmittersRCV002988381 RCV004065175 RCV004550329

NM_001080414.4(CCDC88C):c.358A>G (p.Ile120Val)

SNV
Germline

Chr14:91343640

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
CCDC88C-related disorder

Criteria Provided
Conflicting Classifications

CA7310277

rs_201675394

3 SubmittersRCV002961463 RCV003546928 RCV004553846

NM_001080414.4(CCDC88C):c.3271A>G (p.Ser1091Gly)

SNV
Germline

Chr14:91305851

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7309401

rs_754233469

2 SubmittersRCV003204577 RCV003389926

NM_001080414.4(CCDC88C):c.2296G>A (p.Ala766Thr)

SNV
Germline

Chr14:91313520

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7309695

rs_575697663

2 SubmittersRCV003262070 RCV003730507

NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)

SNV
Germline

Chr14:91273334

Conflicting classifications of pathogenicity

Condition: not provided
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA265518079

rs_945447694

2 SubmittersRCV003393554 RCV004720394

NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)

SNV
Germline

Chr14:91272731

Conflicting classifications of pathogenicity

Condition: not provided
CCDC88C-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7308540

rs_187949234

4 SubmittersRCV003443816 RCV004554226 RCV004364680

NM_001080414.4(CCDC88C):c.5613T>A (p.Cys1871Ter)

SNV
Germline

Chr14:91273099

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390609275

rs_2544238989

1 SubmittersRCV003544339

NM_001080414.4(CCDC88C):c.810-1G>A

SNV
Germline

Chr14:91338571

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390612418

rs_867122896

1 SubmittersRCV003544388

NM_001080414.4(CCDC88C):c.2871C>A (p.Tyr957Ter)

SNV
Germline

Chr14:91308486

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390626931

rs_2544371503

1 SubmittersRCV003579306

NM_001080414.4(CCDC88C):c.302T>A (p.Leu101Ter)

SNV
Germline

Chr14:91359680

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390617167

rs_2139903566

1 SubmittersRCV003573171

NM_001080414.4(CCDC88C):c.5575G>T (p.Glu1859Ter)

SNV
Germline

Chr14:91273137

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390609350

rs_2544239154

1 SubmittersRCV003551921

NM_001080414.4(CCDC88C):c.3043G>T (p.Gly1015Ter)

SNV
Germline

Chr14:91307190

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390625616

rs_2544366495

1 SubmittersRCV003579901

NM_001080414.4(CCDC88C):c.1768A>T (p.Lys590Ter)

SNV
Germline

Chr14:91314048

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390632988

rs_1891980457

1 SubmittersRCV003566048

NM_001080414.4(CCDC88C):c.3196-1G>A

SNV
Germline

Chr14:91305927

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390623770

rs_2544361669

1 SubmittersRCV003563415

NM_001080414.4(CCDC88C):c.5134C>T (p.Gln1712Ter)

SNV
Germline

Chr14:91273578

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390610807

rs_1222992251

1 SubmittersRCV003567020

NM_001080414.4(CCDC88C):c.4768+1G>A

SNV
Germline

Chr14:91279237

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390612879

rs_2544256678

1 SubmittersRCV003578361

NM_001080414.4(CCDC88C):c.1051-2A>G

SNV
Germline

Chr14:91326058

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390637554

rs_1892571828

1 SubmittersRCV003564834

NM_001080414.4(CCDC88C):c.3187G>T (p.Glu1063Ter)

SNV
Germline

Chr14:91307046

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390624896

rs_2544365573

1 SubmittersRCV003580592

NM_001080414.4(CCDC88C):c.4112+1G>A

SNV
Germline

Chr14:91294172

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390616206

rs_2544313833

1 SubmittersRCV003581054

NM_001080414.4(CCDC88C):c.1606A>T (p.Arg536Ter)

SNV
Germline

Chr14:91315709

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390634091

rs_773272089

1 SubmittersRCV003671157

NM_001080414.4(CCDC88C):c.161+1G>A

SNV
Germline

Chr14:91416737

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390618549

rs_2544651188

1 SubmittersRCV003667288

NM_001080414.4(CCDC88C):c.3555C>G (p.Tyr1185Ter)

SNV
Germline

Chr14:91303781

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390621731

rs_375940741

1 SubmittersRCV003676985

NM_001080414.4(CCDC88C):c.5308C>T (p.Gln1770Ter)

SNV
Germline

Chr14:91273404

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390610136

rs_2544240590

1 SubmittersRCV003693992

NM_001080414.4(CCDC88C):c.3492C>G (p.Tyr1164Ter)

SNV
Germline

Chr14:91303844

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390621911

rs_987453838

1 SubmittersRCV003713625

NM_001080414.4(CCDC88C):c.1624C>T (p.Gln542Ter)

SNV
Germline

Chr14:91315691

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390634015

rs_2544397939

1 SubmittersRCV003711839

NM_001080414.4(CCDC88C):c.2485C>T (p.Gln829Ter)

SNV
Germline

Chr14:91313331

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390629950

rs_2544389056

1 SubmittersRCV003719043

NM_001080414.4(CCDC88C):c.1702C>T (p.Arg568Ter)

SNV
Germline

Chr14:91314114

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 40

Criteria Provided
Single Submitter

CA7309836

rs_777488098

2 SubmittersRCV003721104 RCV004765940

NM_001080414.4(CCDC88C):c.4442-2A>G

SNV
Germline

Chr14:91283519

Likely pathogenic

Condition: not provided
Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA390614150

rs_1283433071

2 SubmittersRCV003690339 RCV005013098

NM_001080414.4(CCDC88C):c.1927G>T (p.Glu643Ter)

SNV
Germline

Chr14:91313889

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390632639

rs_779101769

1 SubmittersRCV003695371

NM_001080414.4(CCDC88C):c.3636-2A>C

SNV
Germline

Chr14:91300072

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390620576

rs_2544336575

1 SubmittersRCV003696657

NM_001080414.4(CCDC88C):c.3887G>A (p.Trp1296Ter)

SNV
Germline

Chr14:91297384

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390618293

rs_2544325280

1 SubmittersRCV003699714

NM_001080414.4(CCDC88C):c.3754C>T (p.Gln1252Ter)

SNV
Germline

Chr14:91299952

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA7309225

rs_764782020

1 SubmittersRCV003708423

NM_001080414.4(CCDC88C):c.4105C>T (p.Gln1369Ter)

SNV
Germline

Chr14:91294180

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA265544792

rs_887206656

1 SubmittersRCV003737782

NM_001080414.4(CCDC88C):c.5101C>T (p.Arg1701Ter)

SNV
Germline

Chr14:91273611

Pathogenic/Likely pathogenic

Condition: not provided
Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA390610874

rs_1475150514

2 SubmittersRCV003819017 RCV005013204

NM_001080414.4(CCDC88C):c.3779+1G>A

SNV
Germline

Chr14:91299926

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA390619715

rs_2544335257

1 SubmittersRCV003846050

NM_001080414.4(CCDC88C):c.1597G>T (p.Glu533Ter)

SNV
Germline

Chr14:91315718

Likely pathogenic

Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

CA390634125

rs_1409621336

1 SubmittersRCV003993540

NM_001080414.4(CCDC88C):c.5584C>T (p.Pro1862Ser)

SNV
Germline

Chr14:91273128

Conflicting classifications of pathogenicity

Hydrocephalus, nonsyndromic, autosomal recessive 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7308628

rs_369069440

2 SubmittersRCV005358099 RCV004430411

NM_001080414.4(CCDC88C):c.3160C>T (p.Arg1054Ter)

SNV
Germline

Chr14:91307073

Likely pathogenic

Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

CA7309453

rs_562306188

1 SubmittersRCV004547297

NM_001080414.4(CCDC88C):c.4495C>T (p.Arg1499Cys)

SNV
Germline

Chr14:91283464

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004604693 RCV005358123

NM_001080414.4(CCDC88C):c.341-2A>G

SNV
Germline

Chr14:91343659

Likely pathogenic

CCDC88C-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV004782117

NM_001080414.4(CCDC88C):c.4397A>G (p.Asn1466Ser)

SNV
Germline

Chr14:91289149

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004794029 RCV004968662

NM_001080414.4(CCDC88C):c.5250C>G (p.Tyr1750Ter)

SNV
Germline

Chr14:91273462

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009382

NM_001080414.4(CCDC88C):c.4768+1G>T

SNV
Germline

Chr14:91279237

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009384

NM_001080414.4(CCDC88C):c.4096G>T (p.Glu1366Ter)

SNV
Germline

Chr14:91294189

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009387

NM_001080414.4(CCDC88C):c.3550G>T (p.Glu1184Ter)

SNV
Germline

Chr14:91303786

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009391

NM_001080414.4(CCDC88C):c.3358-2A>C

SNV
Germline

Chr14:91303980

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009392 RCV005112585

NM_001080414.4(CCDC88C):c.3195+1G>T

SNV
Germline

Chr14:91307037

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009394

NM_001080414.4(CCDC88C):c.3013A>T (p.Lys1005Ter)

SNV
Germline

Chr14:91307220

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009397

NM_001080414.4(CCDC88C):c.613G>T (p.Glu205Ter)

SNV
Germline

Chr14:91339895

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009402

NM_001080414.4(CCDC88C):c.483+1G>T

SNV
Germline

Chr14:91342379

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009404

NM_001080414.4(CCDC88C):c.340+1G>T

SNV
Germline

Chr14:91359641

Likely pathogenic

Spinocerebellar ataxia type 40
Hydrocephalus, nonsyndromic, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005009405

NM_001080414.4(CCDC88C):c.162-2A>G

SNV
Germline

Chr14:91408769

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005121632

NM_001080414.4(CCDC88C):c.4777G>T (p.Glu1593Ter)

SNV
Germline

Chr14:91278203

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005145145

NM_001080414.4(CCDC88C):c.4631-1G>C

SNV
Germline

Chr14:91281526

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005169643