C5562043[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705629	NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)	USP53 (A27fs)	Duplication (frameshift variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1526033	NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)	USP53 (L53*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1333554	NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)	USP53 (Q69*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1526171	NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)	USP53 (R111*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
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 1705415	NM_001371395.1(USP53):c.972+3_972+6del	USP53	Deletion (splice donor variant +1 more)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 1705494	NM_001371395.1(USP53):c.973-1G>A	USP53	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	GLikely pathogenic
Select item 694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53 (R338* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 694481	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	USP53 (R469* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +1 more	GPathogenic