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Links from MedGen

Items: 1 to 100 of 682

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(I424fs)
Insertion
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(W455*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(I334fs)
Deletion
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(Y251*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(S559fs)
Microsatellite
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(Q426*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(H291fs)
Indel
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(Q482fs)
Indel
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(Q252fs)
Indel
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(W455*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(L285*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(F381fs)
Deletion
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Duplication
(splice acceptor variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Insertion
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Deletion
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(E558*)
Duplication
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(F538V)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(F351fs)
Deletion
(frameshift variant)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
(Q252*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GLikely pathogenic
GBE1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type IV
GUncertain significance
GBE1
Duplication
Glycogen storage disease, type IV
+1 more
GLikely pathogenic
GBE1
Duplication
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Duplication
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Duplication
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Deletion
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
Deletion
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
Deletion
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(D307H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(S489L)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(F327L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(R166H)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(T463M)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(G370D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(V136M)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(P36Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(G428E)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(T265A)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Microsatellite
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Deletion
(splice donor variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
(N556D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(H608fs)
Deletion
(frameshift variant)
Glycogen storage disease, type IV
+1 more
GPathogenic/Likely pathogenic
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Deletion
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(A8T)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+2 more
GUncertain significance
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(R576H)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(Q371R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(Y49C)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(A95T)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+2 more
GUncertain significance
GBE1
(N19S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(Y200C)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
(L383P)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(G65S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(D174V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(Q270K)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(N233D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(M587V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
(V512L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(W178C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Deletion
(nonsense)
Glycogen storage disease, type IV
+1 more
GPathogenic/Likely pathogenic
GBE1
(A615D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GUncertain significance
GBE1
(S605N)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(Q270L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(I176L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(G97R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(G382R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(K521N)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+2 more
GUncertain significance
GBE1
(V78I)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(G429S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(Y329H)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely pathogenic
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease IV, classic hepatic
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Insertion
(nonsense)
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Deletion
(nonsense)
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
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