Total 3 pathogenic variants reported for Spinocerebellar ataxia type 27 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004115.4(FGF14):c.*414T>C SNV
Germline		 Chr13:101722417 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 27
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10642706 rs_557390242

2 SubmittersRCV000357338RCV003401310
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) SNV
Germline		 Chr13:101726690 Pathogenic Spinocerebellar ataxia type 27
Spinocerebellar ataxia 27A		 No Assertion Criteria Provided
 CA388711151 rs_1555370787

2 SubmittersRCV000580889RCV002472357
NM_004115.4(FGF14):c.408+1G>A SNV
Germline		 Chr13:101868724 Likely pathogenic Spinocerebellar ataxia type 27
FGF14-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002308564RCV003408225