| | | 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) | not specified | |
| | | Duplication (inframe_insertion) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Diets-Jongmans syndrome | |
| | KDM3B, LOC129994737 (A33P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Diets-Jongmans syndrome | |
| | | Single nucleotide variant (missense variant) | Diets-Jongmans syndrome | |
| | | Single nucleotide variant (missense variant) | KDM3B-related disorder | |
| | KDM3B, LOC129994737 (A46S) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Diets-Jongmans syndrome | |
| | KDM3B, LOC129994737 (W47C) | Single nucleotide variant (missense variant) | not provided | |
| | KDM3B, LOC129994737 (R43C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Autism spectrum disorder | |
| | | Microsatellite (inframe_insertion) | Inborn genetic diseases | |
| | KDM3B, LOC129994737 (S35N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KDM3B, LOC129994737 (G36R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KDM3B, LOC129994737 (A21G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KDM3B, LOC129994737 (K11R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Diets-Jongmans syndrome | |
| | KDM3B, LOC129994737 (A31V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental delay | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | Diets-Jongmans syndrome | |
| | KDM3B, LOC129994737 (R45*) | Single nucleotide variant (nonsense) | Diets-Jongmans syndrome | |