| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GAPDHS, TMEM147-AS1 (G162R) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (V166M) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (S169C) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A194T) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (M201V) | Single nucleotide variant (missense variant) | not provided | |
| | GAPDHS, TMEM147-AS1 (A222V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GAPDHS, TMEM147-AS1 (T254M) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (G262R) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A267V) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (R269Q) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A286S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GAPDHS, TMEM147-AS1 (V314A) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (V315M) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (A322T) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (S328T) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (I345M) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM147-AS1, GAPDHS (D377N) | Single nucleotide variant (missense variant) | Malignant tumor of prostate | |
| | GAPDHS, TMEM147-AS1 (F379S) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (V380G) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (M403K) | Single nucleotide variant (missense variant) | not specified | |
| | GAPDHS, TMEM147-AS1 (M403I) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | TMEM147, TMEM147-AS1 (H5P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TMEM147, TMEM147-AS1 (G7R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | TMEM147, TMEM147-AS1 (A11P) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | TMEM147, TMEM147-AS1 (L12F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TMEM147-AS1, TMEM147 (Y21*) | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | TMEM147, TMEM147-AS1 (A31V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TMEM147, TMEM147-AS1 (K34fs) | Deletion (5 prime UTR variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | TMEM147, TMEM147-AS1 (Q46P) | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |