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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(H628R)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+2 more
GConflicting classifications of pathogenicity
GBE1
(E592*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
(W548*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type IV
GPathogenic
GBE1
(H545R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GLikely pathogenic
GBE1
Deletion
Glycogen storage disease, type IV
+1 more
GPathogenic
GBE1
(R524Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GPathogenic/Likely pathogenic
GBE1
(R524*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IV, classic hepatic
+3 more
GPathogenic/Likely pathogenic
GBE1
(R515C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+2 more
GPathogenic/Likely pathogenic
GBE1
(Y329S)
Single nucleotide variant
(missense variant)
GBE1-Related Disorders
+4 more
GPathogenic
GBE1
(F257L)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+2 more
GPathogenic/Likely pathogenic
GBE1
Single nucleotide variant
(intron variant)
Glycogen storage disease, type IV
+1 more
GLikely pathogenic
GBE1
(L224P)
Single nucleotide variant
(missense variant)
Glycogen storage disease IV, classic hepatic
+1 more
GPathogenic/Likely pathogenic
GBE1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type IV
+1 more
GPathogenic
GAA
Single nucleotide variant
(intron variant)
GAA-related condition
+7 more
GPathogenic/Likely pathogenic
Duplication
Glycogen storage disease, type IV
GPathogenic
Variation
Glycogen storage disease, type IV
GPathogenic
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