"Revvity Omics, Revvity"[submitter] AND "JAG1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1595931	NM_000214.3(JAG1):c.3522G>A (p.Pro1174=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +2 more	GConflicting classifications of pathogenicity
Select item 234323	NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)	JAG1 (R889Q)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 213535	NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)	JAG1 (S609L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 2432940	NM_000214.3(JAG1):c.1747G>A (p.Ala583Thr)	JAG1 (A583T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213534	NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys)	JAG1 (R543C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594458	NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)	JAG1 (F509L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498422	NM_000214.3(JAG1):c.1384G>A (p.Ala462Thr)	JAG1 (A462T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044935	NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)	JAG1 (G441S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +2 more	GUncertain significance
Select item 1323132	NM_000214.3(JAG1):c.1228C>T (p.Gln410Ter)	JAG1 (Q410*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2432938	NM_000214.3(JAG1):c.755G>A (p.Arg252Lys)	JAG1 (R252K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323131	NM_000214.3(JAG1):c.384G>A (p.Trp128Ter)	JAG1 (W128*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 501165	NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)	JAG1 (Q34*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2432939	NM_000214.3(JAG1):c.18G>C (p.Thr6=)	JAG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance