| | | 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 | |
| | GAPDHS, TMEM147-AS1 (A222V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | GAPDHS, TMEM147-AS1 (V315M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A286S) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (R269Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (M403I) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (M403K) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (V380G) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (F379S) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (S328T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Hereditary spastic paraplegia 75 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (V166M) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (T254M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A194T) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (V314A) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A322T) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A267V) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (S169C) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (I345M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (G262R) | 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 | |
| | GAPDHS, TMEM147-AS1 (G162R) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Brugada syndrome 5 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Specific learning disability | |
| | | Deletion | Dystonic disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GAPDHS, TMEM147-AS1 (M201V) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Generalized epilepsy with febrile seizures plus, type 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TMEM147-AS1, GAPDHS (D377N) | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |