| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Schizophrenia | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806226, TMEM17 (R180Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (R180W) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (D177G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (R172H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (R172S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (R172C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (L124I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126806226, TMEM17 (W114R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | 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 | |
| | LOC129933873, TMEM17 (D5E) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | Dolichocephaly +3 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |