ClinVar for MedGen (Select 39014) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623144	NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter)	JAG1 (S1005*)	Duplication (nonsense)	Arteriohepatic dysplasia	GLikely pathogenic
Select item 523627	NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs)	JAG1 (R1056fs)	Microsatellite (frameshift variant)	Arteriohepatic dysplasia	GPathogenic
Select item 369352	NC_000020.11:g.10674058G>T	JAG1	Single nucleotide variant	Isolated Nonsyndromic Congenital Heart Disease +1 more	GLikely benign
Select item 337771	NM_000214.3(JAG1):c.-386dup	JAG1	Duplication (5 prime UTR variant)	Arteriohepatic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 337769	NM_000214.3(JAG1):c.-375dup	JAG1	Duplication (5 prime UTR variant)	Arteriohepatic dysplasia +1 more	GUncertain significance
Select item 337767	NM_000214.3(JAG1):c.-299AAG[1]	JAG1	Microsatellite (5 prime UTR variant)	Arteriohepatic dysplasia +2 more	GLikely benign
Select item 337749	NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)	JAG1 (I864V)	Single nucleotide variant (missense variant)	Isolated Nonsyndromic Congenital Heart Disease +3 more	GConflicting classifications of pathogenicity
Select item 337740	NM_000214.3(JAG1):c.*253C>T	JAG1	Single nucleotide variant (3 prime UTR variant)	Arteriohepatic dysplasia +1 more	GUncertain significance
Select item 337731	NM_000214.3(JAG1):c.*644AAT[1]	JAG1	Microsatellite (3 prime UTR variant)	Arteriohepatic dysplasia +1 more	GUncertain significance
Select item 337726	NM_000214.3(JAG1):c.*959GTTT[2]	JAG1	Microsatellite (3 prime UTR variant)	Arteriohepatic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 337724	NM_000214.3(JAG1):c.1093_1097del	JAG1	Deletion (3 prime UTR variant)	Arteriohepatic dysplasia +1 more	GUncertain significance
Select item 337722	NM_000214.3(JAG1):c.1133_1136del	JAG1	Deletion (3 prime UTR variant)	Arteriohepatic dysplasia +1 more	GUncertain significance
Select item 337720	NM_000214.3(JAG1):c.1212_1214del	JAG1	Deletion (3 prime UTR variant)	Arteriohepatic dysplasia +1 more	GUncertain significance
Select item 337716	NM_000214.3(JAG1):c.*1531TG[1]	JAG1	Microsatellite (3 prime UTR variant)	Arteriohepatic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 177941	NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	JAG1 (Q708fs)	Microsatellite (frameshift variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GPathogenic