Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Premature ovarian failure 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Premature ovarian failure 3 | |
| | | Deletion (inframe_deletion) | Premature ovarian failure 3 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Premature ovarian failure 3 | |
| | | Duplication (frameshift variant) | Premature ovarian failure 3 | |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Blepharophimosis, ptosis, and epicanthus inversus syndrome | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Microsatellite (inframe_insertion) | Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Premature ovarian failure 3 +1 more | |
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