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Items: 1 to 100 of 462

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFAP
Single nucleotide variant
(3 prime UTR variant)
not provided
Gnot provided
GFAP
Single nucleotide variant
(3 prime UTR variant)
Alexander disease
+1 more
GBenign/Likely benign
GFAP
(Q426L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(K422fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
GFAP
(I421T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFAP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
GFAP
(E459G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GFAP
(G418R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(D417A +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(D457fs +1 more)
Deletion
(frameshift variant)
Alexander disease
Gnot provided
GFAP
(R416Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GFAP
(R416W +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+2 more
GPathogenic
GFAP
(M415I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GFAP
(E414fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
GFAP
(V453M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
GFAP
(T412S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(T412I +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
GLikely pathogenic
GFAP
(V410L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(V409M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(N407S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(N407T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GFAP
(N407I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GFAP
(R446G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(H403Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(G402S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(S398F +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(S398Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GFAP
(S393I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Insertion
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
Gnot provided
GFAP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
GFAP
(G431fs)
Indel
(frameshift variant +3 more)
Alexander disease
GPathogenic
GFAP
(G431D)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
GFAP
(E431K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
GFAP
Single nucleotide variant
(synonymous variant +2 more)
Alexander disease
+1 more
GConflicting classifications of pathogenicity
GFAP
(R430P)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GFAP
(R430H)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
GFAP
(R430S)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GFAP
(R430C)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
GFAP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GFAP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GFAP
(P428T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GFAP
(P427L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant +2 more)
GFAP-related disorder
GLikely benign
GFAP
(T426M)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GFAP
(T426V)
Inversion
(missense variant +2 more)
not specified
+1 more
GBenign
GFAP
(T426A)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GFAP
(V423I)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GFAP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GFAP
(Q421*)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
GFAP
(V414I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GFAP
(R413Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GFAP
(R413*)
Single nucleotide variant
(nonsense +2 more)
Alexander disease
+1 more
GConflicting classifications of pathogenicity
GFAP
(Y406fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
GFAP
(R405G)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GFAP
(G398R)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GFAP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GFAP
(T395A)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
GFAP
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
GFAP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
GFAP
Duplication
(3 prime UTR variant +1 more)
not provided
GBenign
GFAP
Single nucleotide variant
(3 prime UTR variant +1 more)
GFAP-related disorder
GLikely benign
GFAP
Single nucleotide variant
(stop lost +1 more)
Alexander disease
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFAP
(R437H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFAP
(L413M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFAP
(W398R)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFAP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
GFAP
(S397*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
GFAP
(A396V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GFAP
(G391fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant +1 more)
Alexander disease
GUncertain significance
GFAP
(Q392R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GFAP
(E391K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GFAP
(R390Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(R390*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GFAP
(N386S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(N386I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(N386H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(S385C)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic/Likely pathogenic
GFAP
(S385F)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(T383I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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