| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| MYH9 | Alport Syndrome with macrothrombocytopenia (MYH9) | R702C | 2104C>T | exon 16 | European (2) | Heath 2001 |
| Also found in EPS, FTNS | ||||||
| R702H | 2105G>A | exon 16 | European (1) | Heath 2001 | ||
| Also found in EPS | ||||||
| S1114P | 3340T>C | exon 25 | European (1) | Heath 2001 | ||
| R1165C | 3493C>T | exon 25 | Japanese (1) | Kunishima 2001b | ||
| Also found in SBS | ||||||
| E1841K | 5521G>A | exon 38 | Japanese (1) | Kunishima 2001b | ||
| Also found in FTNS, MHA/SBS | ||||||
| DFNA17 | R705H | 2114G>A | exon 16 | American (1) | Lalwani 2000 | |
| Epstein Syndrome | R702H | 2105G>A | exon 16 | Finnish (1), Italian (1) | Seri 2002 | |
| Also found in APSM, FTNS | ||||||
| R702C | 2104C>T | exon 16 | European (2) | Heath 2001 | ||
| Also found in APSM, FTNS | ||||||
| Fechtner Syndrome | R702C | 2104C>T | exon 16 | N/A (1); African American (1), European (1) | Seri 2000; Heath 2001 | |
| Also found in EPS, APSM | ||||||
| R1165C | 3493C>T | exon 26 | Japanese (1) | Kunishima 2001b | ||
| Also found in MHA/SBS | ||||||
| D1424H | 4270G>C | exon 30 | N/A (1); European (1) | Seri 2000; Heath 2001 | ||
| also found in MHA/SBS | ||||||
| D1424N | 4270G>A | exon 30 | European (3) | Heath 2001 | ||
| also found in MHA/SBS | ||||||
| E1841K | 5521G>A | exon 38 | European (2) | Heath 2001 | ||
| also found in APSM, MHA/SBS | ||||||
| R1933X | 5797C>T | exon 40 | Chinese (1) | Heath 2001 | ||
| also found in MHA/SBS | ||||||
| May-Hegglin Anomaly/ Sebastian Syndrome | N93K | 279C>G | exon 1 | N/A (1) | Seri 2000 | |
| A95T | 283G>A | exon 1 | Korean (1) | Kunishima 2001b | ||
| K371N | 1119G>C | exon 10 | European (1) | Heath 2001 | ||
| T1155I | 3464C>T | exon 25 | European (1) | Kelley 2000 | ||
| R1165C | 3493C>T | exon 26 | N/A (1); Japanese (1) | Seri 2000; Kunishima 2001b | ||
| Also found in FTNS | ||||||
| R1165L | 3494G>T | exon 26 | Japanese (1) | Kunishima 2001b | ||
| 1205del3 | 3613del9 | exon 26 | Japanese (1) | Kunishima 2001b | ||
| D1424N | 4270G>A | exon 30 | European/Germany (2), European/USA (1); Japanese (1) | Heath 2001; Kunishima 2001a | ||
| also found in FTNS | ||||||
| D1424H | 4270G>C | exon 30 | Japanese (1) | Kunishima 2001a | ||
| D1424Y | 4270G>T | exon 30 | Japanese (1) | Kunishima 2001b | ||
| E1841K | 5521G>A | exon 38 | European (5); N/A (2); Japanese (1); Japanese (1), Chinese (1); Chinese (1) | Kelley 2000; Seri 2000; Kunishima 2001a; Kunishima 2001b; Zhi 2002 | ||
| also found in APSM, FTNS | ||||||
| 5774delA | exon 40 | Korean (1) | Kunishima 2001b | |||
| 5779delC | Japanese (1) | Kunishima 2001a | ||||
| R1933X | 5797C>T | exon 40 | European/ Hispanic (4); Italian (1); European (1); Japanese (2); Korean (1), Japanese (1) | Kelley 2000; Seri 2000; Heath 2001; Kunishima 2001a; Kunishima 2001b | ||
| also found in FTNS | ||||||
| 5828delG | exon 40 | Japanese (1) | Kunishima 2001b | |||