| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive familial heart block type IB +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Erythrokeratodermia variabilis et progressiva 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Erythrokeratodermia variabilis et progressiva 6 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive familial heart block type IB +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Erythrokeratodermia variabilis et progressiva 6 +3 more | |
| | | Microsatellite (inframe_deletion +2 more) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Progressive familial heart block type IB +4 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +3 more | |
| | | Deletion (frameshift variant +2 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Erythrokeratodermia variabilis et progressiva 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +3 more | |
| | | Duplication (frameshift variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Erythrokeratodermia variabilis et progressiva 6 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (nonsense) | Progressive familial heart block type IB +2 more | |
| | | Deletion (frameshift variant) | Long QT syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive familial heart block type IB +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +3 more | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (nonsense) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +1 more | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial heart block type IB +1 more | |
| | | Deletion (frameshift variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial heart block type IB +2 more | |
| | | Single nucleotide variant (intron variant) | Erythrokeratodermia variabilis et progressiva 6 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrokeratodermia variabilis et progressiva 6 +1 more | |