| | TBCEL, TBCEL-TECTA (K253Q) | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (R230Q) | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (F199L) | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (R193Q) | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (I171V) | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (V128I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (I146L) | Single nucleotide variant (missense variant) | TBCEL-related disorder | |
| | | 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 | |
| | TBCEL, TBCEL-TECTA (P379S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | TBCEL, TBCEL-TECTA (Q377R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | TBCEL, TBCEL-TECTA (D203V) | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (M145I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (C168S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | TBCEL, TBCEL-TECTA (I245V) | Single nucleotide variant (missense variant) | not specified | |