| | LOC130059466, LOC130059467 +1738 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059153, LOC130059154 +1426 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC400553, LOC654780 +832 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01081, LINC01082 +781 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00917, LINC01081 +566 more | Copy number gain | See cases | |
| | LOC130059799, LOC130059800 +531 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC121587566, LOC121587567 +218 more | Deletion | KBG syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059772, LOC130059773 +138 more | Deletion | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | LOC130059760, LOC130059761 +129 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ANKRD11, LOC100287036 +37 more | Copy number loss | See cases | |
| | ANKRD11, LOC100287036 +35 more | Copy number loss | See cases | |
| | ANKRD11, LOC125177395 +3 more | Deletion | KBG syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion | KBG syndrome | |
| | | Deletion | KBG syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Global developmental delay | |
| | | Single nucleotide variant (synonymous variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (synonymous variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | KBG syndrome | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Duplication (frameshift variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | KBG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift 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) | KBG syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | ANKRD11, TRAPPC2L (R2608W) | Single nucleotide variant (missense variant) | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | ANKRD11-related condition | |
| | | Single nucleotide variant (intron variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | KBG syndrome +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | KBG syndrome | |
| | | Single nucleotide variant (intron variant) | ANKRD11-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | KBG syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | KBG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |