| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (intron variant) | CAPN12-related condition | |
| | CAPN12, LOC130064372 (A478G) | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (intron variant) | CAPN12-related condition | |
| | | Duplication (intron variant) | CAPN12-related condition | |
| | | Duplication (inframe insertion) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | CAPN12, LOC130064372 (H469Y) | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (intron variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant) | CAPN12-related condition | |
| | | Single nucleotide variant (nonsense) | CAPN12-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CAPN12, LOC130064372 (D464A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Duplication | RYR1-Related Disorders | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CAPN12, LOC130064373 (K441N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | Specific learning disability | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CAPN12-related condition +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | CAPN12-related condition +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |