| | LOC130006424, LOC130006425 +305 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | LOC130006418, TPBGL (R220G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (G223R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (P225R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (A232T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (C238W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (R260P) | Single nucleotide variant (missense variant) | not specified | |
| | TPBGL, LOC130006418 (P267S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (P274Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (D277E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (G280R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (R282L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (D287H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006418, TPBGL (S288G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006419, TPBGL (R338C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130006419, TPBGL (N339K) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | 3-methylglutaconic aciduria, type VIIB | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not specified | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |