Links from Orgtrack
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (inframe_insertion) | Developmental dysplasia of the hip | |
| | LOC126859908, THBS2
+1 more (C819R +2 more) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Atypical hemolytic-uremic syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Isolated anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Congenital myopathy with fiber type disproportion | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Seizure +1 more | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy +2 more | |
| | | Deletion (nonsense +1 more) | Obesity +5 more | |
| | | Insertion (frameshift variant) | Hereditary spastic paraplegia | |
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