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Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFAP
(Q426L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
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
(R416W +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+2 more
GPathogenic
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
(S393I +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(G431fs)
Indel
(frameshift variant +3 more)
Alexander disease
GPathogenic
GFAP
(R430H)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
GFAP
(N386I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(S385C)
Single nucleotide variant
(missense variant)
not provided
+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
GFAP, LOC130060994
(R376W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(E374G)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
LOC130060994, GFAP
(E373A)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP, LOC130060994
(E373Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP, LOC130060994
(E373K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(E371V)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP, LOC130060994
(E371G)
Single nucleotide variant
(missense variant)
not provided
+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)
not provided
+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
(A364T)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP, LOC130060994
(A364P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP, LOC130060994
(E362D)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP, LOC130060994
(E362G)
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
Single nucleotide variant
(synonymous variant)
Alexander disease
Gnot provided
GFAP, LOC130060994
(A358V)
Single nucleotide variant
(missense variant)
Alexander disease
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
(D351H)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
Insertion
(inframe_insertion)
Alexander disease
Gnot provided
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 +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(E312*)
Single nucleotide variant
(nonsense)
Alexander disease
GUncertain significance
GFAP
(Q290E)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(K279E)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R276L)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(A268D)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(A267P)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(L264P)
Indel
(missense variant)
Alexander disease
Gnot provided
GFAP
(L264P)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(R258P)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R258C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(Y257C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GFAP
(A253G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(S247P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(A244V)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(Y242D)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(R239L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(R239P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(R239H)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GPathogenic
GFAP
(R239G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
(L231H)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(E223Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GFAP
(E210K)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(E207Q)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
GFAP
(E207K)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
Single nucleotide variant
(intron variant)
Alexander disease
Gnot provided
GFAP
(E205K)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
GConflicting classifications of pathogenicity
GFAP
(D128N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GFAP
Microsatellite
(inframe_insertion)
Alexander disease
Gnot provided
GFAP
Duplication
(inframe_insertion)
Alexander disease
Gnot provided
GFAP
(L101P)
Single nucleotide variant
(missense variant)
GFAP-related condition
GUncertain significance
GFAP
(L97P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(Q93P)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(L90P)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(R88S)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(R88C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(V87G)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(V87I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GFAP
(V87L)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
Indel
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(K86E)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(Y83H)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(F80S)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
GFAP
(R79H +1 more)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(R79L)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP
(R79P)
Single nucleotide variant
(missense variant)
not provided
+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
(R79C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(D78E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP
(D78N)
Single nucleotide variant
(missense variant)
Alexander disease
Gnot provided
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
(M73T)
Single nucleotide variant
(missense variant)
Alexander disease
GPathogenic
GFAP
(M73R)
Single nucleotide variant
(missense variant)
Alexander disease
+1 more
Gnot provided
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