| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (splice acceptor variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | CAMTA1, LOC126805603 (S1258G +3 more) | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (splice donor variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Duplication (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | CAMTA1, LOC126805603 (E1255K +3 more) | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | CAMTA1, LOC126805603 (R322W +3 more) | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Duplication (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | CAMTA1, LOC126805603 (P374fs +6 more) | Indel (frameshift variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | CAMTA1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | CAMTA1, LOC126805603 (T1193I +6 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | CAMTA1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (splice acceptor variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Deletion (intron variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |