"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "USP53"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671669	NM_001371395.1(USP53):c.237+1G>A	USP53	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1421292	NM_001371395.1(USP53):c.372+3_372+6del	USP53	Deletion (splice donor variant)	not provided +1 more	GUncertain significance
Select item 2671670	NM_001371395.1(USP53):c.570-1G>A	USP53	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 2585608	NM_001371395.1(USP53):c.822+1del	USP53	Deletion (splice donor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 2585048	NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)	USP53 (G276R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2584943	NM_001371395.1(USP53):c.1295_1299del (p.Leu432fs)	USP53 (L265fs +4 more)	Microsatellite (frameshift variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic

ClinVar