Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LOC126862264, MEFV (S364* +1 more) | Single nucleotide variant (nonsense) | Neurodevelopmental delay +2 more | |
| | | Complex | Coloboma of optic nerve +15 more | |
| | | Inversion | Macroorchidism +14 more | |
| | | Inversion | Accelerated skeletal maturation +12 more | |
| | | Single nucleotide variant (missense variant) | COL7A1-related condition +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +19 more | |
Click to view in NCBI Gene