Total 13 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		rs_1045060319	2 SubmittersRCV001794627 RCV003130547
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 SubmittersRCV003134723 RCV003427694