| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC130002527, LOC130002528 +1272 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003109, LOC130003110 +1210 more | Copy number gain | See cases | |
| | LOC130002885, LOC130002886 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121282, LOC111365185 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002964, LOC130002965 +417 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003068, LOC130003069 +392 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130003113, LOC130003114 +324 more | Copy number gain | See cases | |
| | LOC130003070, LOC130003071 +283 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ARRDC1, ARRDC1-AS1 +92 more | Copy number loss | See cases | |
| | LOC130003144, LOC130003145 +101 more | Copy number loss | See cases | |
| | ARRDC1, ARRDC1-AS1 +67 more | Copy number loss | See cases | |
| | ARRDC1, ARRDC1-AS1 +41 more | Copy number loss | See cases | |
| | ARRDC1, ARRDC1-AS1 +49 more | Copy number gain | See cases | |
| | ARRDC1, ARRDC1-AS1 +66 more | Copy number gain | See cases | |
| | ARRDC1, ARRDC1-AS1 +27 more | Copy number gain | See cases | |
| | LOC130003125, LOC130003126 +49 more | Copy number loss | See cases | |
| | ARRDC1, ARRDC1-AS1 +46 more | Copy number loss | See cases | |
| | LOC130003141, LOC130003142 +33 more | Copy number loss | See cases | |
| | ARRDC1, ARRDC1-AS1 +33 more | Duplication | 9q34 microduplication syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Kleefstra syndrome 1 | |
| | | Deletion (splice donor variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (splice donor variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Deletion (intron variant) | Kleefstra syndrome 1 | |
| | | Duplication (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Duplication (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Deletion (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Duplication (intron variant) | Kleefstra syndrome 1 | |
| | | Deletion (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Duplication (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Deletion (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Duplication (intron variant) | Kleefstra syndrome 1 | |
| | | Deletion (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CACNA1B, CACNA1B-AS1 +24 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EHMT1, LOC108281115 +17 more | Copy number gain | See cases | |
| | EHMT1, LOC124375254 +2 more | Deletion | Kleefstra syndrome 1 | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |