Links from Orgtrack
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Ellis-van Creveld syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome | |
| | CBLL2, LOC126863223
+5 more | Deletion | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| | | Single nucleotide variant (missense variant) | Pyle metaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | Pyle metaphyseal dysplasia | |
| | | Single nucleotide variant (nonsense) | Duchenne muscular dystrophy +1 more | |
| | | Deletion | Familial X-linked hypophosphatemic vitamin D refractory rickets | |
| | | Microsatellite (inframe_deletion +2 more) | Lynch syndrome 1 | |
| | | Microsatellite (frameshift variant) | Familial X-linked hypophosphatemic vitamin D refractory rickets +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Marfan syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | MYH9-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
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