| | | Single nucleotide variant (missense variant) | Congenital long QT syndrome | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (intron variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (missense variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (intron variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CACNA1I-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | CACNA1I-related disorder | |