"Revvity Omics, Revvity"[submitter] AND "ENTPD5"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1322156	NM_182476.3(COQ6):c.788_789del (p.Leu262_Ser263insTer)	COQ6, ENTPD5	Deletion (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	GPathogenic
Select item 1324160	NM_182476.3(COQ6):c.1027C>T (p.Arg343Ter)	COQ6, ENTPD5 (R318* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial steroid-resistant nephrotic syndrome with sensorineural deafness +1 more	GPathogenic/Likely pathogenic