| | | Copy number gain | See cases | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACBD3, ACBD3-AS1 +287 more | Copy number loss | See cases | |
| | LOC129932646, LOC129932647 +967 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932948, LOC129932949 +954 more | Copy number gain | See cases | |
| | LOC129932666, LOC129932667 +954 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC128772241, LOC128772242 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932613, LOC129932614 +949 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | FBXO28-related disorder | |
| | FBXO28, LOC129932579 (A5K) | Indel (missense variant +1 more) | Developmental and epileptic encephalopathy 100 | |
| | FBXO28, LOC129932579 (A5G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | FBXO28, LOC129932579 (E7V) | Single nucleotide variant (missense variant +1 more) | FBXO28-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FBXO28, LOC129932579 (G15A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | FBXO28-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | FBXO28-related developmental and epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | FBXO28-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | FBXO28-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | FBXO28-associated epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | FBXO28-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Indel (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Indel (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | See cases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Deletion (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Deletion (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Copy number loss | Global developmental delay | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |