Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Inversion (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 16 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 16 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 16 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related condition +2 more | |
| | | Copy number loss | Hypogonadotropic hypogonadism 16 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SEMA3A-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | SEMA3A-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypogonadotropic hypogonadism 16 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | LOC129998733, LOC129998734 +1 more | Deletion | Hypogonadotropic hypogonadism 16 with or without anosmia | |
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