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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGL
(Y821H +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
Gnot provided
PYGL
(K681T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
(S675L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(S675T +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
Gnot provided
PYGL
(E673K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GUncertain significance
PYGL
Deletion
(splice donor variant +1 more)
Glycogen storage disease, type VI
GPathogenic
PYGL
(D634H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PYGL
(N632I +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
Gnot provided
PYGL
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type VI
GLikely pathogenic
PYGL
(R491C +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(V456M +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(R399* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PYGL
(N377K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(N339S +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(G233D +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type VI
GPathogenic
PYGL
(R94*)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease, type VI
GPathogenic
PYGL
(Q13P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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