| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| GJB6 | DFNA3 | T5M | C>T | Italian (1) | Grifa 1999 | |
| del >140kb | Ashkenazi Jewish (4) | Lerer 2001* | ||||
| *found in compound hets with GJB2 (DFNB1) | ||||||
| del 342kb | Spanish (22) | Castillo 2002* | ||||
| *found in compound hets with GJB2 (DFNB1) | ||||||
| del >150kb | N/A (5) | Pallares-Ruiz 2002* | ||||
| *homozygous or compound het with GJB2 (DFNB1) | ||||||
| Hidrotic Ectodermal Dysplasia (Clouston Syndrome) | G11R | 31G>A | French (2), Scottish-Irish (1), African (1), Spanish (1), French Canadian (3) | Lamartine 2000 | ||
| V37E | 110T>A | Scottish (1) | Smith 2002 | |||
| A88V | 263C>T | Indian (1), Malaysian (1), Welsh (1) | Lamartine 2000 |