| | | Single nucleotide variant (synonymous variant) | WASHC5-related condition | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Deletion (frameshift variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (T756I +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Deletion (frameshift variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (I800V +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (C1110R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (W1073R +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (V885A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (F891V +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | LOC126860498, WASHC5 (D1069E +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +2 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | WASHC5, WASHC5-AS1 (L945V +1 more) | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | Distal trisomy 8q | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | WASHC5, WASHC5-AS1 (S784T +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | WASHC5, WASHC5-AS1 (N779S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | WASHC5-related condition | |
| | | Single nucleotide variant (missense variant) | WASHC5-related condition | |
| | | Single nucleotide variant (missense variant) | WASHC5-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 8 | |
| | | Copy number loss | Exostoses, multiple, type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LINC03024, LOC126860503 +558 more | Copy number gain | Neurodevelopmental disorder | |
| | | Indel (intron variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary spastic paraplegia 8 | |
| | | Single nucleotide variant (nonsense) | WASHC5-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome +2 more | |
| | WASHC5, LOC126860498 (P1070fs +1 more) | Deletion (frameshift variant) | Ritscher-Schinzel syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 1 | |
| | | Duplication | not provided | |
| | | Duplication | Hereditary spastic paraplegia 8 +1 more | |
| | | Deletion | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary spastic paraplegia 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |