| | BORCS8-MEF2B, MEF2B (G345A) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (M53V) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (S20N) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (S355F) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (R207Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (G261R) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (V87M) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (R85H) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | MEF2B, BORCS8-MEF2B (G308V) | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (P4L) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (S343L) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (S29P) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | MEF2B, BORCS8-MEF2B (G331D) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (R114W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (T363S) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (G283V) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, BORCS8 (R98W) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | MEF2B, BORCS8-MEF2B (R10C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (V74M) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | MEF2B, BORCS8-MEF2B (R166C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, BORCS8 (E27K) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, BORCS8 (R40H) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (R348T) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, BORCS8 (A25G) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BORCS8, BORCS8-MEF2B (V30M) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (A294V) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, BORCS8 (V82I) | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | BORCS8-MEF2B, MEF2B (D352N) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |