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Items: 1 to 100 of 265

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAA
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type II
GPathogenic/Likely pathogenic
GAA
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
GAA
(M1I)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type II
GPathogenic/Likely pathogenic
GAA
(R11Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GAA
(R40*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GAA
Deletion
(splice acceptor variant +1 more)
Glycogen storage disease, type II
GPathogenic
GAA
(N87fs)
Duplication
(frameshift variant)
Glycogen storage disease, type II
GAA
(P86R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GAA
(R89H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(C103R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(C103G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA, CCDC40
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GAA
(K114fs)
Insertion
(frameshift variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
GAA
(M122fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GAA
(G123E)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+3 more
GBenign/Likely benign
GAA
(C127Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
GAA
(P161fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GAA
(R168Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(E176fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GAA
(R178H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GAA
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
+2 more
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
GAA
(R190H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+2 more
GPathogenic/Likely pathogenic
GAA
(L208P)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+1 more
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
GAA
(G219R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
(V222M)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+2 more
GConflicting classifications of pathogenicity
GAA
(R224W)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
(R224Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
(L226V)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
GAA
(T234A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GAA
(A237E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAA
(A237V)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(F241fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GAA
(A242V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GAA
(L248P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
GAA
(S251L +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
(S251L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+2 more
GConflicting classifications of pathogenicity
GAA
(S254L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+2 more
GConflicting classifications of pathogenicity
GAA
(Y256fs)
Indel
(frameshift variant)
Glycogen storage disease, type II
GAA
(A261T)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(E262K)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
(P266S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
(W279*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(R281W)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
(R281Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GAA
(P285S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
Single nucleotide variant
(splice donor variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Insertion
(intron variant)
Glycogen storage disease, type II
GAA
Microsatellite
(intron variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GAA
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
GAA
(P287L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GAA
(N290D)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(L291F)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
(Y292C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+1 more
GPathogenic/Likely pathogenic
GAA
(G293R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
(S306L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GAA
(H308P)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
(G309R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
(M318K)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
(M318T)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
GAA
Deletion
(splice acceptor variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(P324Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAA
(P324L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(G334C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAA
(D338V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAA
(Y340C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(V350M)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(L355P)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
+2 more
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GAA
(P361L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
+3 more
GConflicting classifications of pathogenicity
GAA
(M363V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAA
(W367R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
GAA
(H372L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GAA
(R375C)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
(R375L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GLikely pathogenicFDA Recognized
database
GAA
(G377S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+1 more
GUncertain significance
GAA
(P397L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GUncertain significanceFDA Recognized
database

Items: 1 to 100 of 265

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