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Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFAP
Single nucleotide variant
(3 prime UTR variant)
not provided
Gnot provided
CCDC103, GFAP
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
GFAP
(Q426L +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
(D417A +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R416W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
GFAP
(S398Y +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(S393I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
Single nucleotide variant
(intron variant)
not provided
Gnot provided
GFAP
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
GFAP
(R430C)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
GFAP
(N386I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(T383I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP, LOC130060994
(R376W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(R376G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(E374G)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(E373Q)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(E373K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(E371V)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(E371G)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(E371Q)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(Y366C)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(Y366H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(A364V)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP, LOC130060994
(A364P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(E362D)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP, LOC130060994
(D360V)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP, LOC130060994
(L359P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GFAP, LOC130060994
(L359V)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP, LOC130060994
(L357P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GFAP
(L352P)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(E332K)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(L331P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(R330G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GFAP, LOC130060995
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
(D295N)
Single nucleotide variant
(missense variant)
not provided
GBenign
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GFAP
(K279E)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(R276L)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
Single nucleotide variant
(intron variant)
not provided
Gnot provided
GFAP
(R258P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(Y257C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GFAP
(A253G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(S247P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(A244V)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(Y242D)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R239L)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic
GFAP
(R239P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(R239H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(R239C)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic
GFAP
(K236T)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(L235P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(E223Q)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GConflicting classifications of pathogenicity
GFAP
(E210K)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(E207Q)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(E207K)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
Single nucleotide variant
(intron variant)
not provided
GBenign
GFAP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GFAP
(E205K)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GConflicting classifications of pathogenicity
GFAP
Single nucleotide variant
(intron variant)
not provided
Gnot provided
GFAP
Single nucleotide variant
(intron variant)
not provided
Gnot provided
GFAP
(D157N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GFAP
(D128N)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic/Likely pathogenic
GFAP
(V115F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GFAP
(V115I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(L101P)
Single nucleotide variant
(missense variant)
GFAP-related disorder
GUncertain significance
GFAP
(L97P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(L90P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R88S)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(R88C)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic
GFAP
(V87G)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(V87L)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
Indel
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(K86R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GFAP
(Y83S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GFAP
(Y83H)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R79L)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R79P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R79H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(R79G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(R79S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(R79C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(N77S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(N77Y)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(L76V)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(L76F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(M74T)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(M73R)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(M73K)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(E72K)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(A71T)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
GFAP
(R70Q)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GConflicting classifications of pathogenicity
GFAP
(R70W)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic
GFAP
(K63Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
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