"Baylor Genetics"[submitter] AND "JAG1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032929	NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	JAG1 (C1002fs)	Duplication (frameshift variant)	Tetralogy of Fallot	GPathogenic
Select item 3237483	NM_000214.3(JAG1):c.2393T>C (p.Val798Ala)	JAG1 (V798A)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1028619	NM_000214.3(JAG1):c.2372+1G>T	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1028618	NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg)	JAG1 (G724R)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1028617	NM_000214.3(JAG1):c.1724T>C (p.Ile575Thr)	JAG1 (I575T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 1004286	NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)	JAG1 (T569M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 590995	NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs)	JAG1 (H483fs)	Indel (frameshift variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 1028615	NM_000214.3(JAG1):c.1036C>T (p.His346Tyr)	JAG1 (H346Y)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 2441942	NM_000214.3(JAG1):c.925G>T (p.Gly309Trp)	JAG1 (G309W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GUncertain significance
Select item 2582405	NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)	JAG1 (W288*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2582658	NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)	JAG1 (I120T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 337761	NM_000214.3(JAG1):c.133G>T (p.Val45Leu)	JAG1 (V45L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 625616	GRCh37/hg19 20p12.2(chr20:10124855-11479105)	JAG1, MKKS +2 more	Copy number loss	Alagille syndrome due to a JAG1 point mutation	GPathogenic