List of variants in gene JAG1 reported as likely pathogenic for Alagille syndrome due to a JAG1 point mutation

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 62

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)	rs527236046	0.00004
NM_000214.3(JAG1):c.2113+1G>A	rs1294950721	0.00001
NM_000214.3(JAG1):c.694+1G>T	rs876660979	0.00001
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys)
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)	rs863223650
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs)
NM_000214.3(JAG1):c.1349-173_1483del
NM_000214.3(JAG1):c.1395+3A>G	rs886044220
NM_000214.3(JAG1):c.1396-1G>A
NM_000214.3(JAG1):c.1569+1G>A
NM_000214.3(JAG1):c.1644del (p.Cys549fs)
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
NM_000214.3(JAG1):c.1720+1G>C	rs2122607604
NM_000214.3(JAG1):c.1721-2A>T
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs)	rs2122606213
NM_000214.3(JAG1):c.190del (p.Arg64fs)
NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs)
NM_000214.3(JAG1):c.2114-2A>C
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs)
NM_000214.3(JAG1):c.2210del (p.Gly737fs)
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg)	rs2122602509
NM_000214.3(JAG1):c.2278del (p.Val760fs)	rs2067297301
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
NM_000214.3(JAG1):c.2385del (p.Thr796fs)	rs1568793309
NM_000214.3(JAG1):c.2458+2T>G	rs2122600427
NM_000214.3(JAG1):c.2459-2A>G
NM_000214.3(JAG1):c.2625del (p.Lys875fs)
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer)	rs2122597276
NM_000214.3(JAG1):c.2683-1G>A
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser)	rs876661122
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr)	rs1555827782
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp)	rs1411780867
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala)	rs2067270959
NM_000214.3(JAG1):c.2931del (p.Glu977fs)	rs2122595901
NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs)
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs)
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter)	rs1568791694
NM_000214.3(JAG1):c.3048+2T>A
NM_000214.3(JAG1):c.387+1G>A
NM_000214.3(JAG1):c.387+1G>C
NM_000214.3(JAG1):c.438_439+2del	rs2122632102
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000214.3(JAG1):c.53T>G (p.Leu18Arg)
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)	rs1801138
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg)	rs1555829660
NM_000214.3(JAG1):c.647del (p.Gly216fs)
NM_000214.3(JAG1):c.677dup (p.Glu228fs)	rs2122623497
NM_000214.3(JAG1):c.695-1G>C
NM_000214.3(JAG1):c.699_700del (p.Ile233fs)
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser)	rs1555829415
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter)
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr)	rs2122620330
NM_000214.3(JAG1):c.756-1G>C	rs1568798388
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu)
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu)	rs797044956
NM_000214.3(JAG1):c.82-1G>C	rs2067508256
NM_000214.3(JAG1):c.82-2A>G	rs1568807161
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser)	rs2122615095
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	rs28939668
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)

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