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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC103, GFAP
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
GFAP
Single nucleotide variant
(3 prime UTR variant)
Alexander disease
+1 more
GBenign/Likely benign
GFAP
(S385C)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic/Likely pathogenic
GFAP, LOC130060994
(L369V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(L346fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
GFAP
(D295N)
Single nucleotide variant
(missense variant)
not provided
GBenign
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GFAP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
GFAP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
GFAP
(T232A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(R209W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Duplication
(intron variant)
Alexander disease
+1 more
GBenign/Likely benign
GFAP
(R136W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GFAP
(T110S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GFAP
(R105Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GFAP
(R79H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GFAP
(P47L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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