Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ARFGEF1-DT, CPA6 (G267R +1 more) | Single nucleotide variant (missense variant) | Cerebral palsy | |
| | KIF1B, LOC126805614 (P848S +1 more) | Single nucleotide variant (missense variant) | Adrenal pheochromocytoma +2 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Aplasia/Hypoplasia involving the metacarpal bones +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene