Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTN, TTN-AS1 (K14965* +5 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | |
| | | Deletion (frameshift variant) | Hereditary angioedema type 1 | |
| | | Single nucleotide variant (missense variant) | Plasminogen deficiency, type I | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 19 +4 more | GPathogenic/Likely pathogenic |
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