| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (5 prime UTR variant +1 more) | Charcot-Marie-Tooth, Intermediate +9 more | |
| | | Deletion (splice acceptor variant +1 more) | Hereditary pheochromocytoma-paraganglioma | |
| | | Single nucleotide variant (nonsense +3 more) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Paragangliomas 3 +5 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paragangliomas 3 +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene