| | | Single nucleotide variant (nonsense +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | KDM5C, LOC130068308 (W21R) | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (nonsense +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | KDM5C, LOC130068308 (A32S) | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (intron variant) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (intron variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia | |
| | KDM5C, LOC130068308 (P15L) | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Deletion (splice acceptor variant) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KDM5C, LOC130068308 (A38T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | KDM5C, LOC130068308 (P27L) | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | KDM5C, LOC130068308 (V16G) | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Seizure +1 more | |
| | KDM5C, LOC130068308 (E23*) | Single nucleotide variant (nonsense +1 more) | Multiple myeloma | |
| | LOC130068308, KDM5C (I34fs) | Deletion (frameshift variant +1 more) | Syndromic X-linked intellectual disability Claes-Jensen type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | KDM5C, LOC130068308 (Y30C) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |