| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CELF4, LOC105372068 (I59V +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CELF4, LOC105372068 (C171R +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | CELF4-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | CELF4-related disorder | |
| | | Single nucleotide variant (intron variant) | CELF4-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental disorder | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CELF4, LOC105372068 (P218R +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | CELF4, LOC105372068 (R170L +6 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | Myoepithelial tumor | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | CELF4, LOC105372068 (P208T +6 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | CELF4-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 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 | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC110120900, LOC110120940 +99 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |