| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous 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 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 provided +1 more | |
| | | 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 | |
| | LOC126806512, TTLL4 (S565C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (Y588C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (R592W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (R592Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (W601R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (L606M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (K610T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806512, TTLL4 (P616S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (R684C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (K687E) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (R715C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (H753D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (H753P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (S783P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806513, TTLL4 (E819K) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Alacrima, achalasia, and intellectual disability syndrome +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Deletion | Desmin-related myofibrillar myopathy | |
| | | Copy number gain | not provided | |