| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936092, LOC129936093 +134 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936198, LOC129936199 +647 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936421, LOC129936422 +962 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC100130207, LOC122889018 +5 more | Copy number loss | See cases | |
| | LOC100130207, LOC112935931 +8 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Spinocerebellar ataxia type 15/16 | |
| | | Copy number loss | See cases | |
| | LOC112935931, LOC121725127 +6 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETMAR, SUMF1 (W11G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETMAR, SUMF1 (R50* +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETMAR, SUMF1 (V169I +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETMAR, SUMF1 (M323L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETMAR, SUMF1 (L81M +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETMAR, SUMF1 (T338A +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple sulfatase deficiency | |