| | LOC112533659, LOC112533660 +2032 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary ciliary dyskinesia 17 | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary ciliary dyskinesia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alexander disease +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | GFAP-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Alexander disease +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous 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) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alexander disease | |
| | | Single nucleotide variant (missense variant) | Alexander disease +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alexander disease +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Indel (frameshift variant +3 more) | Alexander disease | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | GFAP-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Inversion (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | GFAP-related disorder +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | GFAP-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GFAP-related disorder | |
| | | Single nucleotide variant (stop lost +1 more) | Alexander disease | |