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Links from MedGen

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKA1
Deletion
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKB
(Q940* +1 more)
Single nucleotide variant
(nonsense)
Glycogen phosphorylase kinase deficiency
+1 more
GPathogenic
PHKG2
(R309W)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 2
+2 more
GLikely pathogenic
PHKB
Deletion
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKA1
Deletion
(splice acceptor variant +1 more)
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
LOC130058947, PHKB
Single nucleotide variant
(splice donor variant)
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKB
(R868* +1 more)
Single nucleotide variant
(nonsense)
Glycogen phosphorylase kinase deficiency
+1 more
GPathogenic/Likely pathogenic
PHKB
Deletion
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKA2
(P869R)
Single nucleotide variant
(missense variant)
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKB
Single nucleotide variant
(splice acceptor variant +1 more)
Glycogen storage disease IXb
+1 more
GPathogenic/Likely pathogenic
PHKB
Deletion
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKA2
Single nucleotide variant
(splice acceptor variant)
Glycogen phosphorylase kinase deficiency
GLikely pathogenic
PHKA2
(R2G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PHKA1
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease IXd
+1 more
GLikely pathogenic
PHKB
(Q776* +1 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXb
+3 more
GPathogenic/Likely pathogenic
PHKA1
(R298*)
Single nucleotide variant
(nonsense)
Glycogen storage disease IXd
+1 more
GPathogenic
PHKA1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease IXd
+2 more
GPathogenic/Likely pathogenic
PHKA2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PHKB
(R103* +1 more)
Single nucleotide variant
(nonsense)
Glycogen phosphorylase kinase deficiency
+1 more
GPathogenic/Likely pathogenic
PHKA1
Microsatellite
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GBenign
PHKA1
Microsatellite
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKA1
Microsatellite
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKA1
Microsatellite
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GBenign
PHKB
Duplication
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Deletion
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Deletion
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Deletion
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Microsatellite
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Deletion
(3 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Duplication
(intron variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Duplication
(intron variant)
Glycogen phosphorylase kinase deficiency
+1 more
GBenign
PHKB
Insertion
(intron variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
Duplication
(intron variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
LOC112449713, PHKB
Single nucleotide variant
(synonymous variant)
PHKB-related disorder
+2 more
GConflicting classifications of pathogenicity
PHKB
Deletion
(intron variant)
Glycogen storage disease IXb
+1 more
GConflicting classifications of pathogenicity
CFAP119, LOC126862330
+1 more
Single nucleotide variant
(intron variant +1 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
CFAP119, LOC126862330
+1 more
Single nucleotide variant
(intron variant +1 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
CFAP119, PHKG2
(T171I)
Single nucleotide variant
(3 prime UTR variant +2 more)
Glycogen phosphorylase kinase deficiency
+1 more
GUncertain significance
CFAP119, PHKG2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen phosphorylase kinase deficiency
GLikely benign
CFAP119, PHKG2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
CFAP119, PHKG2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
CFAP119, PHKG2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
CFAP119, PHKG2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen phosphorylase kinase deficiency
GLikely benign
CFAP119, PHKG2
(V277I)
Single nucleotide variant
(3 prime UTR variant +2 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKG2
Single nucleotide variant
(3 prime UTR variant +1 more)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKG2
Duplication
(intron variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKG2
(D28V)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXc
+2 more
GUncertain significance
LOC130058864, PHKG2
Single nucleotide variant
(5 prime UTR variant)
Glycogen phosphorylase kinase deficiency
GUncertain significance
PHKB
(E813del +1 more)
Microsatellite
(inframe_deletion)
Glycogen storage disease IXb
+3 more
GBenign/Likely benign
PHKB
(Y419* +1 more)
Single nucleotide variant
(nonsense)
Glycogen phosphorylase kinase deficiency
+1 more
GPathogenic
PHKB
Single nucleotide variant
(splice acceptor variant)
Glycogen phosphorylase kinase deficiency
+1 more
GPathogenic/Likely pathogenic
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