| | KCNC3, LOC130064972 (T191R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | KCNC3, LOC130064972 (R195H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | KCNC3, LOC111811967 (R11H) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCNC3, LOC130064972 (G184V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | KCNC3, LOC111811967 (P33Q) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNC3, LOC111811967 (Q19R) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | KCNC3, LOC111811967 (Q39P) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | KCNC3, LOC111811967 (P25L) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 13 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 13 +1 more | |
| | KCNC3, LOC111811967 (P48S) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCNC3, LOC111811967 (P37Q) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCNC3, LOC130064972 (A178V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNC3, LOC130064972 (W196R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCNC3, LOC111811967 (A16fs) | Duplication (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 13 | |
| | KCNC3, LOC111811967 (P33R) | Single nucleotide variant (5 prime UTR variant +1 more) | Spinocerebellar ataxia type 13 | |
| | KCNC3, LOC111811967 (Q40*) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | KCNC3, LOC111811967 (P27R) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | KCNC3, LOC111811967 (A49T) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | KCNC3, LOC111811967 (P37S) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | KCNC3, LOC111811967 (Q14*) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 13 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (inframe_insertion) | Spinocerebellar ataxia type 13 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KCNC3, LOC130064972 (W192C +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | KCNC3, LOC130064972 (G177D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | KCNC3, LOC111811967 (A44S) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | KCNC3, LOC111811967 (G12W) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 13 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 13 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | KCNC3, LOC111811967 (G47D) | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia type 13 | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KCNC3, LOC111811967 (P24L) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | KCNC3, LOC111811967 (S4fs) | Deletion (frameshift variant) | Spinocerebellar ataxia type 13 | |
| | KCNC3, LOC130064972 (P257T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | LOC111811967, KCNC3 (P43S) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | KCNC3, LOC111811967 (A16T) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | KCNC3, LOC111811967 (Q41H) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |