Total 16 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.35G>C (p.Gly12Ala) SNV
Germline		 Chr14:23321504 Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy
PABPN1-related disorder
Oculopharyngeal muscular dystrophy 1		 Criteria Provided
Conflicting Classifications
 CA254158 rs_104894466

3 SubmittersRCV000007793RCV003934808RCV004576883
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
 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

2 SubmittersRCV003134723RCV003427694
NM_004643.4(PABPN1):c.-1G>T SNV
Germline		 Chr14:23321469 Conflicting classifications of pathogenicity Oculopharyngeal muscular dystrophy
PABPN1-related disorder		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003142659RCV003954054