| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121852963, RNF125 (V4G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | RNF125-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RNF125-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RNF125-related disorder | |
| | | Single nucleotide variant (missense variant) | RNF125-related disorder | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Deletion (intron variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121852963, RNF125 (P28S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Tenorio syndrome | |
| | LOC121852963, RNF125 (R24C) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (V43M) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Copy number loss | not provided | |
| | LOC121852963, RNF125 (D8E) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (V4L) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Copy number gain | Trisomy 18 | |
| | LOC121852963, RNF125 (P14S) | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Deletion | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tenorio syndrome | |
| | | Deletion | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | RNF125-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | LOC121852963, RNF125 (G10del) | Deletion (inframe_deletion) | Tenorio syndrome | |
| | | Single nucleotide variant (synonymous variant) | Tenorio syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Duplication | Tenorio syndrome | |
| | | Copy number gain | not provided | |
| | RNF125, LOC121852963 (D27E) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC121852963, RNF125 (S16C) | 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121852963, RNF125 (L41P) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
| | LOC121852963, RNF125 (P31L) | Single nucleotide variant (missense variant) | Tenorio syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |
| | | Single nucleotide variant (missense variant) | Tenorio syndrome | |