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Links from MedGen

Items: 1 to 100 of 308

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKG2
(E56fs)
Deletion
(frameshift variant)
Glycogen storage disease IXc
GLikely pathogenic
PHKG2
(D117*)
Duplication
(nonsense)
Glycogen storage disease IXc
GUncertain significance
PHKG2
(F233S)
Single nucleotide variant
(missense variant)
PHKG2-related disorder
+1 more
GConflicting classifications of pathogenicity
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
(Q284*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXc
GPathogenic
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
(V38I)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXc
GUncertain significance
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Deletion
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
(Y24*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXc
GPathogenic
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
(K18fs)
Deletion
(frameshift variant)
Glycogen storage disease IXc
GPathogenic
PHKG2
Single nucleotide variant
(intron variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
PHKG2
Single nucleotide variant
(synonymous variant)
Glycogen storage disease IXc
GLikely benign
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