| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Indel (frameshift variant +3 more) | Alexander disease | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (R376W) | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (E374G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E373A) | Single nucleotide variant (missense variant) | Alexander disease | |
| | GFAP, LOC130060994 (E373Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E373K) | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (E371V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E371G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E371Q) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (Y366C) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (Y366H) | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (A364V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (A364T) | Single nucleotide variant (missense variant) | Alexander disease | |
| | GFAP, LOC130060994 (A364P) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E362D) | Single nucleotide variant (missense variant) | Alexander disease | |
| | GFAP, LOC130060994 (E362G) | Single nucleotide variant (missense variant) | Alexander disease | |
| | GFAP, LOC130060994 (D360V) | Single nucleotide variant (missense variant) | Alexander disease | |
| | GFAP, LOC130060994 (L359P) | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (L359V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Alexander disease | |
| | GFAP, LOC130060994 (A358V) | Single nucleotide variant (missense variant) | Alexander disease | |
| | GFAP, LOC130060994 (L357P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Insertion (inframe_insertion) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (nonsense) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Indel (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion) | Alexander disease | |
| | | Duplication (inframe_insertion) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | GFAP-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Indel (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |