Total 5 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.590G>A (p.Arg197Gln)	SNV Germline	Chr14:91339918	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 40 Hydrocephalus, nonsyndromic, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA7310199	rs_200769097	4 SubmittersRCV000443675 RCV000765189
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.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		rs_142295786	5 SubmittersRCV000714897 RCV000714898 RCV000995233 RCV002532984 RCV004547888
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)	SNV Unknown	Chr14:91313823	Likely pathogenic	Spinocerebellar ataxia type 40	Criteria Provided Single Submitter		rs_956104232	1 SubmittersRCV001257574