| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (I77fs) | Indel (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Duplication (inframe_insertion) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Indel (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (inframe_deletion) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Microsatellite (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (N61K) | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (M51I) | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (L37fs) | Insertion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (E76fs) | Microsatellite (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (G67fs) | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Duplication (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Microsatellite (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (inframe_deletion) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (inframe_deletion) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion | Neurodegeneration with brain iron accumulation 5 | |
| | | Duplication | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more | |
| | | Duplication | SLC35A2-congenital disorder of glycosylation +4 more | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (C22fs) | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Microsatellite (frameshift variant) | Neurodegeneration with brain iron accumulation 5 +1 more | |
| | LOC126863256, WDR45 (V66del) | Microsatellite (inframe_deletion) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (synonymous variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | LOC126863256, WDR45 (M56T) | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Duplication (intron variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |