Total 17 pathogenic variants reported for Oculopharyngeal muscular dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004643.4(PABPN1):c.31G>A (p.Ala11Thr) SNV
Germline		 Chr14:23321500 Conflicting classifications of pathogenicity Condition: not provided
Oculopharyngeal muscular dystrophy		 Criteria Provided
Conflicting Classifications
 CA388966990 rs_1045060319

2 SubmittersRCV001794627RCV003130547
NM_004643.4(PABPN1):c.26C>T (p.Ala9Val) SNV
Germline		 Chr14:23321495 Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388966977 rs_1433496791

2 SubmittersRCV003134723RCV003427694
NM_004643.4(PABPN1):c.-1G>T SNV
Germline		 Chr14:23321469 Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy
PABPN1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA257773631 rs_947151586

3 SubmittersRCV003142659RCV003954054RCV005412519