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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC1
(Q27fs)
Deletion
(frameshift variant)
G6PC1-related condition
+3 more
GPathogenic
G6PC1
(R83C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic
G6PC1
(R83H)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(Y128fs)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
G6PC1
(G188R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
G6PC1
(Q347*)
Single nucleotide variant
(nonsense +1 more)
G6PC1-related condition
+3 more
GPathogenic
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