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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGM
(R816H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PYGM
(R816C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PYGM
(W798R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PYGM
(R771G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(K754fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
(V716G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PYGM
(S675L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYGM
(A670V +1 more)
Single nucleotide variant
(missense variant)
PYGM-related condition
+3 more
GBenign/Likely benign
PYGM
(L653V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYGM
(R642C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PYGM
(R640C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(V630M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PYGM
(R602Q +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
+3 more
GConflicting classifications of pathogenicity
PYGM
(N596S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PYGM
(K543T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PYGM
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PYGM
(I513V +1 more)
Single nucleotide variant
(missense variant)
PYGM-related condition
+3 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PYGM
(P489R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
(V456M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
(S450L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PYGM
(A448V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(D424E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
+2 more
GUncertain significance
PYGM
(R414G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
PYGM
(N413Y +1 more)
Single nucleotide variant
(missense variant)
PYGM-related condition
+2 more
GConflicting classifications of pathogenicity
PYGM
(T395M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PYGM
(R387H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PYGM
(A365V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PYGM
Duplication
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type V
+3 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PYGM
(N283S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
PYGM
Single nucleotide variant
(intron variant)
Glycogen storage disease, type V
+1 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PYGM
(G205S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PYGM
(A193S +1 more)
Single nucleotide variant
(missense variant)
PYGM-related condition
+3 more
GBenign/Likely benign
PYGM
(N168*)
Duplication
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PYGM
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease, type V
+1 more
GConflicting classifications of pathogenicity
PYGM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PYGM
(R61H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PYGM
(R50*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic
PYGM
(R44H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(V22M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(G21S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PYGM
(R3Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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