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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGL
Deletion
(3 prime UTR variant)
not provided
+2 more
GBenign
PYGL
(I806L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PYGL
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PYGL
(Y649* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGL
(D634H +1 more)
Single nucleotide variant
(missense variant)
PYGL-related condition
+2 more
GConflicting classifications of pathogenicity
PYGL
Deletion
(splice acceptor variant)
not specified
+1 more
GBenign
PYGL
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PYGL
(L516fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
PYGL
(L495F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGL
Single nucleotide variant
(intron variant)
Glycogen storage disease, type VI
+1 more
GBenign
PYGL
(N283I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGL
(G233S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYGL
(Y204C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PYGL
Deletion
(intron variant)
not provided
GUncertain significance
PYGL
(T59M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
PYGL
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PYGL
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type VI
+2 more
GBenign
PYGL
(Q13P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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