"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236653	NM_000214.3(JAG1):c.1729_1732dup (p.Cys578Ter)	JAG1, MIR6870 (C578*)	Duplication (nonsense)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 213529	NM_000214.3(JAG1):c.439+1G>A	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation +2 more	GPathogenic