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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(R515H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+5 more
GPathogenic/Likely pathogenic
GBE1
(E498K)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+5 more
GUncertain significance
GBE1
(Q482E)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+1 more
GConflicting classifications of pathogenicity
GBE1
(Y329S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+4 more
GPathogenic
GBE1
(G280D)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+4 more
GBenign/Likely benign
GBE1
Single nucleotide variant
(splice donor variant)
GBE1-related condition
+6 more
GPathogenic
GBE1
(R190G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GBenign
GBE1
Single nucleotide variant
(synonymous variant)
Adult polyglucosan body disease
+4 more
GBenign/Likely benign
GBE1
(K57R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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