C5562043[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694473	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	USP53 (R57*)	Single nucleotide variant (nonsense +1 more)	Cholestasis	GPathogenic
Select item 694474	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	USP53 (R99S)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GPathogenic
Select item 1328233	NM_001371395.1(USP53):c.510del (p.Ser171fs)	USP53 (S171fs +1 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 694477	NM_001371395.1(USP53):c.583del (p.Arg195fs)	USP53 (R195fs +1 more)	Deletion (frameshift variant)	Cholestasis	GPathogenic
Select item 1328232	NM_001371395.1(USP53):c.725C>T (p.Pro242Leu)	USP53 (P242L +1 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 1328227	NM_001371395.1(USP53):c.951del (p.Phe317fs)	USP53 (F201fs +1 more)	Deletion (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GPathogenic
Select item 694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53 (R338* +2 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +2 more	GPathogenic

ClinVar