| | LOC130065730, TP53INP2 (P122L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (R174Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (W71C) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Glutathione synthetase deficiency with 5-oxoprolinuria | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (Q173R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC125387262, TP53INP2 (P16L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (E146K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (M106L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (P95R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (D68N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (S49G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (P147L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (A143T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (S49N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (E69Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (R145G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065730, TP53INP2 (G87A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (L156V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC125387262, TP53INP2 (E17Q) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130065732, TP53INP2 (R144H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC125387262, TP53INP2 (V26L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome | |
| | | Deletion | Long QT syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC613266, MACROD2 +950 more | Copy number gain | See cases | |