Total 36 pathogenic variants reported for Spinocerebellar ataxia type 40 
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.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 SubmittersRCV002513314RCV005007923RCV000033088
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 SubmittersRCV000443675RCV000765189
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 SubmittersRCV000517040RCV000765187RCV002525023RCV003441904RCV004553118
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 SubmittersRCV000517793RCV000765188RCV003441903RCV002527464RCV004551658
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 SubmittersRCV000714897RCV000714898RCV000995233RCV002532984RCV004547888
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.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 SubmittersRCV003073149RCV003091639RCV005010987
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 SubmittersRCV003721104RCV004765940
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 SubmittersRCV003690339RCV005013098
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 SubmittersRCV003819017RCV005013204
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 SubmittersRCV005009392RCV005112585
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