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Links from Gene

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC1
Deletion
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(G118R)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
(A192E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
G6PC1
(A192V +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(P113L)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(W63C)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(P248fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(T123I)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Deletion
(nonsense)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
Deletion
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
(Q82*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
G6PC1
(L230P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
G6PC1
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Gnot provided
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