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Links from MedGen

Items: 1 to 100 of 1263

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAG1
(C549fs)
Deletion
(frameshift variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
(C980G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Q166*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(G696fs)
Deletion
(frameshift variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(splice donor variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
(W404*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
Single nucleotide variant
(splice acceptor variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
(P401L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(N881*)
Duplication
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(A874T)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GBenign
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Indel
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GBenign
JAG1
(A432G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GBenign
JAG1
(L21V)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(I920T)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(G860A)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Insertion
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(E222G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(D922E)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(E857K)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(C454*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(G47R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(D116Y)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GBenign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
+1 more
GLikely benign
JAG1
(G62R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(V393L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(N217S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
+1 more
GLikely benign
JAG1
(P675L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(S158L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
+1 more
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(H242R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(S10F)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(P476L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(V45M)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(I1049M)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(V136M)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(splice donor variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(I1217L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(S164G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(W1196G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(D684G)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(R2C)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(C714R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Y328*)
Insertion
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
Single nucleotide variant
(intron variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(C29*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(C633Y)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Y132S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(N536K)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Q182R)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(S997L)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Y479*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(T73fs)
Duplication
(frameshift variant)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(T975fs)
Deletion
(frameshift variant)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(D1024N)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(P420T)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(D453N)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Y255C)
Inversion
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(C491*)
Duplication
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(P514A)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Deletion
(splice acceptor variant +1 more)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
Single nucleotide variant
(synonymous variant)
Alagille syndrome due to a JAG1 point mutation
GLikely benign
JAG1
(P269S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(S342C)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(Q254*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(Y651*)
Single nucleotide variant
(nonsense)
Alagille syndrome due to a JAG1 point mutation
GPathogenic
JAG1
(P4S)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
(G852V)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
JAG1
Single nucleotide variant
(splice acceptor variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
Single nucleotide variant
(splice donor variant)
Alagille syndrome due to a JAG1 point mutation
GLikely pathogenic
JAG1
(P91A)
Single nucleotide variant
(missense variant)
Alagille syndrome due to a JAG1 point mutation
GUncertain significance
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