Total 18 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 1		 Criteria Provided
Conflicting Classifications
 CA388966990 rs_1045060319

2 SubmittersRCV001794627RCV005630292
NM_004643.4(PABPN1):c.26C>T (p.Ala9Val) SNV
Germline		 Chr14:23321495 Conflicting classifications of pathogenicity Condition: not provided
Oculopharyngeal muscular dystrophy 1		 Criteria Provided
Conflicting Classifications
 CA388966977 rs_1433496791

2 SubmittersRCV003427694RCV005630345
NM_004643.4(PABPN1):c.-1G>T SNV
Germline		 Chr14:23321469 Conflicting classifications of pathogenicity PABPN1-related disorder
Condition: not provided
Oculopharyngeal muscular dystrophy 1		 Criteria Provided
Conflicting Classifications
 CA257773631 rs_947151586

3 SubmittersRCV003954054RCV005412519RCV005630347