| | CYP2U1-AS1, SGMS2 (F226L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CYP2U1-AS1, SGMS2 (G89R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (L47I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (S213P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (G194E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP2U1-AS1, SGMS2 (F75L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | CYP2U1-AS1, SGMS2 (E98K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (A139T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (S137F +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (K18N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (T42S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | SGMS2, CYP2U1-AS1 (G55S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (R29Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (A260T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP2U1-AS1, SGMS2 (R180Q +1 more) | Single nucleotide variant (missense variant +1 more) | SGMS2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | SGMS2-related disorder | |
| | CYP2U1-AS1, SGMS2 (E271Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CYP2U1-AS1, SGMS2 (G228D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CYP2U1-AS1, SGMS2 (S131P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CYP2U1-AS1, SGMS2 (M294T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (I214T +1 more) | Single nucleotide variant (missense variant) | Calvarial doughnut lesions-bone fragility syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (S71L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (W166C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (F66fs +1 more) | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (T59M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CYP2U1-AS1, SGMS2 (V200L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CYP2U1-AS1, SGMS2 (P167L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (K241E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CYP2U1-AS1, SGMS2 (I105N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | SGMS2-related disorder +2 more | |