| | | Single nucleotide variant (missense variant) | Hypophosphatasia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypophosphatasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Childhood hypophosphatasia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Adult hypophosphatasia +4 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +12 more | GPathogenic/Likely pathogenic |
| | LOC121852963, RNF125 (V4L) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC121852963, RNF125 (D8E) | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC121852963, RNF125 (G10del) | Deletion (inframe_deletion) | Tenorio syndrome | |
| | LOC121852963, RNF125 (P14S) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (S16C) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (R24C) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (D27E) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (P31L) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (V43M) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Deletion (frameshift variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | RNF125-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Deletion (nonsense) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Deletion (intron variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome +1 more | |
| | | Copy number loss | not provided | |
| | | Duplication | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Copy number loss | not provided | |
| | | Deletion | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked 93 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 93 | |
| | | Single nucleotide variant (missense variant) | BRWD3-related X-linked syndromic intellectual disability | |