| | | 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 | |
| | | Deletion | Multiple sulfatase deficiency | |
| | | Duplication | Multiple sulfatase deficiency | |
| | | Deletion | Multiple sulfatase deficiency | |
| | | Deletion | Multiple sulfatase deficiency | |
| | | Deletion | Multiple sulfatase deficiency | |
| | | Deletion | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (G82R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (nonsense) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (Q35*) | Single nucleotide variant (nonsense) | Multiple sulfatase deficiency | |
| | | Duplication (intron variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (Q56fs) | Deletion (frameshift variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (R84fs) | Deletion (frameshift variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (E83*) | Single nucleotide variant (nonsense) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETMAR, SUMF1 (T338A +3 more) | 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 | |
| | LOC129936056, SUMF1 (H68D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SETMAR, SUMF1 (L81M +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETMAR, SUMF1 (W11G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129936056, SUMF1 (G51C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SETMAR, SUMF1 (M323L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129936056, SUMF1 (H61R) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETMAR, SUMF1 (V169I +2 more) | 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 | |
| | SETMAR, SUMF1 (R50* +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC129936056, SUMF1 (S49Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC129936056, SUMF1 (A66V) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (A66T) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (G82E) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (K90E) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC129936056, SUMF1 (E73G) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (A65T) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (P81A) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (R69P) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC129936056, SUMF1 (P55fs) | Deletion (frameshift variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (E36D) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (L86H) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (C50S) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC129936056, SUMF1 (P58R) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (A60D) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | SUMF1, LOC129936056 (P79H) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (Q56H) | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (intron variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Multiple sulfatase deficiency | |
| | | Copy number loss | not specified | |
| | LOC129936056, SUMF1 (R72L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Duplication (inframe_insertion) | Multiple sulfatase deficiency | |
| | SUMF1, LOC129936056 (C50*) | Single nucleotide variant (nonsense) | Multiple sulfatase deficiency | |
| | LOC129936056, SUMF1 (A47T) | Single nucleotide variant (missense variant) | Multiple sulfatase deficiency | |