| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| GJA1 | Recessive Hearing Loss | L11F | 30C>T | exon | African American (3) | Liu 2001 |
| V24A | 71T>C | exon | African American (1) | Liu 2001 | ||
| Heart Malformations | T326A | N/A (1) | Britz-Cunningham 1995 | |||
| F335Q | N/A (1) | Britz-Cunningham 1995 | ||||
| S373G | A>G | N/A (1) | Britz-Cunningham 1995 | |||
| E352G | A>G | N/A (2) | Britz-Cunningham 1995 | |||
| S364P | T>C | N/A (5) | Britz-Cunningham 1995 | |||
| S365N | G>A | N/A (1) | Britz-Cunningham 1995 |