Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Rajab interstitial lung disease with brain calcifications 1 | |
| | | Deletion (frameshift variant +1 more) | Rajab interstitial lung disease with brain calcifications 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Rajab interstitial lung disease with brain calcifications 1 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene