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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(M437V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+2 more
GUncertain significance
GBE1
(V98G)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+3 more
GConflicting classifications of pathogenicity
GBE1
(G299*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
+2 more
GPathogenic/Likely pathogenic
GBE1
(H319Y)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+2 more
GConflicting classifications of pathogenicity
GBE1
(M495T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GBE1
(R166C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GBE1
(D572N)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+2 more
GUncertain significance
GBE1
Single nucleotide variant
(5 prime UTR variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(R156H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GUncertain significance
GBE1
Duplication
(5 prime UTR variant)
Glycogen storage disease, type IV
+2 more
GBenign
GBE1
Single nucleotide variant
(5 prime UTR variant)
Adult polyglucosan body disease
+2 more
GBenign/Likely benign
GBE1
Single nucleotide variant
(5 prime UTR variant)
Adult polyglucosan body disease
+2 more
GBenign
GBE1
(I334V)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+2 more
GBenign
GBE1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(5 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+2 more
GConflicting classifications of pathogenicity
GBE1
(D357G)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
(A8V)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+3 more
GUncertain significance
GBE1
(N222S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+2 more
GUncertain significance
GBE1
(V485A)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+2 more
GConflicting classifications of pathogenicity
GBE1
(S559I)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(K68M)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(E333G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Adult polyglucosan body disease
+2 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GBenign
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GBenign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+2 more
GConflicting classifications of pathogenicity
GBE1
(A214T)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+3 more
GBenign/Likely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+1 more
GLikely benign
GBE1
(N626S)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+3 more
GConflicting classifications of pathogenicity
GBE1
(E609K)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+4 more
GConflicting classifications of pathogenicity
GBE1
(E498K)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+5 more
GUncertain significance
GBE1
(G429A)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
(L663P)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+3 more
GUncertain significance
GBE1
(V98L)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+3 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IV, classic hepatic
+4 more
GConflicting classifications of pathogenicity
GBE1
(R524G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+2 more
GConflicting classifications of pathogenicity
GBE1
(S378R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GConflicting classifications of pathogenicity
GBE1
(M5I)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+4 more
GConflicting classifications of pathogenicity
GBE1
(R262H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+4 more
GConflicting classifications of pathogenicity
GBE1
(R565W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+3 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
GBE1
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign/Likely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+3 more
GBenign/Likely benign
GBE1
(T254A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GBE1
(Y329C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+4 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(5 prime UTR variant)
Adult polyglucosan body disease
+1 more
GLikely benign
GBE1
Single nucleotide variant
(intron variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+4 more
GBenign/Likely benign
GBE1
(Y216C)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
(M241V)
Single nucleotide variant
(missense variant)
GBE1-related condition
+3 more
GConflicting classifications of pathogenicity
GBE1
(V287L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+3 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(synonymous variant)
Adult polyglucosan body disease
+3 more
GConflicting classifications of pathogenicity
GBE1
(Y469C)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+2 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+2 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(synonymous variant)
Adult polyglucosan body disease
+2 more
GUncertain significance
GBE1
(F625C)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
(R679C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
GBE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
GBE1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
GBE1
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type IV
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
Single nucleotide variant
(3 prime UTR variant)
Adult polyglucosan body disease
+1 more
GUncertain significance
GBE1
(G280D)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+4 more
GBenign/Likely benign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
(I59T)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+4 more
GBenign
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IV, classic hepatic
+4 more
GBenign/Likely benign
GBE1
(T507A)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
(P40T)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+4 more
GBenign/Likely benign
GBE1
(A673T)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+4 more
GBenign/Likely benign
GBE1
Indel
(intron variant)
Adult polyglucosan body disease
+1 more
GPathogenic/Likely pathogenic
GBE1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type IV
+4 more
GConflicting classifications of pathogenicity
GBE1
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic
GBE1
(R190G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
(R515H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
GBE1
(R262C)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+2 more
GConflicting classifications of pathogenicity
GBE1
(R524*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
GBE1
(Y329S)
Single nucleotide variant
(missense variant)
Adult polyglucosan body disease
+4 more
GPathogenic
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