| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058119, LOC130058120 +26 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | JMJD8, RHBDL1 +2 more (N116D +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 16 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Spinocerebellar ataxia 48 | |
| | STUB1, JMJD8 (E107K +1 more) | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | JMJD8, STUB1 (C180Y +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (Q109H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (R110* +1 more) | Single nucleotide variant (nonsense +2 more) | not provided | |
| | JMJD8, STUB1 (R110Q +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (E113K +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | JMJD8, STUB1 (D118N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | JMJD8, STUB1 (H192R +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | JMJD8, STUB1 (V121I +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (R194Q +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | JMJD8, STUB1 (Q124R +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | STUB1, JMJD8 (Q125H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (3 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | | Indel (3 prime UTR variant +2 more) | not provided | |
| | | Duplication (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | JMJD8, STUB1 (D133E +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (K134fs +1 more) | Deletion (frameshift variant +2 more) | not provided | |
| | JMJD8, STUB1 (A209V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (D140E +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (L142V +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | STUB1, JMJD8 (S216fs +1 more) | Duplication (frameshift variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 +2 more | |
| | JMJD8, STUB1 (E148K +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Microsatellite (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | JMJD8, STUB1 (R225* +1 more) | Single nucleotide variant (nonsense +2 more) | Spinocerebellar ataxia 48 +1 more | GPathogenic/Likely pathogenic |
| | JMJD8, STUB1 (D226G +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | STUB1, JMJD8 (P228S +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | JMJD8, STUB1 (Y158fs +1 more) | Deletion (frameshift variant +2 more) | Spinocerebellar ataxia 48 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (M240T +1 more) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | JMJD8, STUB1 (R169W +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | JMJD8, STUB1 (R241G +1 more) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | JMJD8, STUB1 (P171L +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (T174P +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (T246M +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (G177V +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | JMJD8, STUB1 (T179N +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (Y180C +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (D253N +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | JMJD8, STUB1 (R182C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | STUB1, JMJD8 (R182G +1 more) | Single nucleotide variant (missense variant +2 more) | Spinocerebellar ataxia 48 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | JMJD8, STUB1 (H188fs +1 more) | Duplication (frameshift variant +2 more) | Spinocerebellar ataxia 48 | |
| | JMJD8, STUB1 (H188P +1 more) | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 16 | |
| | JMJD8, STUB1 (Q190* +1 more) | Single nucleotide variant (nonsense +2 more) | Spinocerebellar ataxia 48 | |
| | JMJD8, STUB1 (Q190H +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Deletion (intron variant +2 more) | Spinocerebellar ataxia 48 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |