| | | Single nucleotide variant (3 prime UTR variant) | CCBE1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hennekam lymphangiectasia-lymphedema syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | CCBE1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CCBE1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CCBE1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | CCBE1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | CCBE1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CCBE1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CCBE1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CCBE1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | CCBE1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Hennekam lymphangiectasia-lymphedema syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CCBE1-related condition | |
| | | Microsatellite (frameshift variant) | CCBE1-related condition | |