| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder, autosomal dominant 68 +2 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | KMT2B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KMT2B, LOC130064257 (G22S) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064257 (A27S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KMT2B, LOC130064257 (A27V) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | not provided | |
| | KMT2B, LOC130064257 (G30S) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064257 (G31A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KMT2B, LOC130064257 (G32S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KMT2B, LOC130064257 (R33H) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064257 (G34S) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064257 (G35R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Dystonia 28, childhood-onset | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Autism | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KMT2B, LOC130064258 (R44W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KMT2B, LOC130064258 (V45I) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KMT2B, LOC130064258 (R49S) | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset | |
| | KMT2B, LOC130064258 (R49L) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064258 (R49H) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064258 (G50C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KMT2B, LOC130064258 (G52D) | Single nucleotide variant (missense variant) | Intellectual disability | |
| | KMT2B, LOC130064258 (T54A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KMT2B, LOC130064258 (G55A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KMT2B, LOC130064258 (A59T) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064258 (A59V) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064258 (E60D) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | KMT2B, LOC130064258 (P61S) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064258 (P61H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KMT2B, LOC130064258 (D64N) | Single nucleotide variant (missense variant) | not provided | |
| | KMT2B, LOC130064258 (A66V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dystonia 28, childhood-onset | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |