"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279930	NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)	BCL2L2-PABPN1, PABPN1	Microsatellite (inframe_insertion +2 more)	Oculopharyngeal muscular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 987098	NM_004643.4(PABPN1):c.18_26dup (p.Ala9_Ala11dup)	PABPN1, BCL2L2-PABPN1	Duplication (inframe_insertion +1 more)	Oculopharyngeal muscular dystrophy +1 more	GPathogenic/Likely pathogenic