| | GFAP, LOC130060994 (R376W) | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (R376G) | Single nucleotide variant (missense variant) | not provided | |
| | GFAP, LOC130060994 (E374G) | Single nucleotide variant (missense variant) | Alexander disease +1 more | |
| | 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) | Alexander disease +1 more | |
| | GFAP, LOC130060994 (E371G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E371Q) | Single nucleotide variant (missense variant) | Alexander disease +1 more | |
| | GFAP, LOC130060994 (Y366C) | Single nucleotide variant (missense variant) | Alexander disease +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 (A364P) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | GFAP, LOC130060994 (E362D) | 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 | |
| | GFAP, LOC130060994 (L357P) | Single nucleotide variant (missense variant) | not provided | |