| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 42 | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | CACNA1G, CACNA1G-AS1 (R76L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (R17G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CACNA1G, CACNA1G-AS1 (P52R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (G29E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CACNA1G, CACNA1G-AS1 (G35R) | Single nucleotide variant (missense variant +1 more) | CACNA1G-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (G30D) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (E5Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (A55V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (E49V) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CACNA1G, CACNA1G-AS1 (N23T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (E5del) | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G (E2186fs +26 more) | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (S72N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G, CACNA1G-AS1 (S43fs) | Deletion (frameshift variant +1 more) | Inborn genetic diseases | |
| | CACNA1G, CACNA1G-AS1 (D24N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CACNA1G, CACNA1G-AS1 (D24E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CACNA1G-AS1, CACNA1G (M20T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | CACNA1G, CACNA1G-AS1
+1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 42 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar ataxia | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 42 | |
| | CACNA1G, CACNA1G-AS1 (S26W) | Single nucleotide variant (missense variant +1 more) | not provided | |