"3billion"[submitter] AND "JAG1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333547	NM_000214.3(JAG1):c.2931del (p.Glu977fs)	JAG1 (E977fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1333228	NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter)	JAG1 (Q884*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 213538	NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)	JAG1 (R744*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation +2 more	GPathogenic
Select item 843337	NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer)	JAG1	Deletion (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 2444244	NM_000214.3(JAG1):c.1713del (p.Cys572fs)	JAG1 (C572fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1705664	NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs)	JAG1 (C436fs)	Duplication (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1705304	NM_000214.3(JAG1):c.647del (p.Gly216fs)	JAG1 (G216fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 1526022	NM_000214.3(JAG1):c.224T>C (p.Phe75Ser)	JAG1 (F75S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2572559	NM_000214.3(JAG1):c.190del (p.Arg64fs)	JAG1 (R64fs)	Deletion (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic