U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GFAP, LOC130060994
(R376W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GFAP, LOC130060994
(E374G)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
GFAP, LOC130060994
(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)
not provided
+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)
not provided
+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
Format
Items per page
Sort by
Choose Destination