| | LOC126860792, PMPCA (Y115* +2 more) | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | LOC126860792, PMPCA (L140F +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860792, PMPCA (P117R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860792, PMPCA (E202Q +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860792, PMPCA (R137W +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | LOC126860792, PMPCA (E130D +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860792, PMPCA (P276L +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126860792, PMPCA (S149N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860792, PMPCA (A212V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860792, PMPCA (R104Q +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | PMPCA, LOC126860792 (R123C +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | LOC126860792, PMPCA (R250H +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC126860792, PMPCA (R185W +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | LOC126860792, PMPCA (P103S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860792, PMPCA (V230I +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860792, PMPCA (P276S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126860792, PMPCA (G124S +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | LOC126860792, PMPCA (M151V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126860792, PMPCA (R268Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | LOC126860792, PMPCA (M108V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126860792, PMPCA (T84M +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126860792, PMPCA (E182K +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126860792, PMPCA (R185Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive spinocerebellar ataxia 2 | |
| | PMPCA, LOC130003010 (R22W) | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive spinocerebellar ataxia 2 | |
| | LOC126860792, PMPCA (V256M +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |