| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | APBB1, SMPD1 (R498L +4 more) | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +4 more | GPathogenic/Likely pathogenic |
| | APBB1, SMPD1 (R610del +3 more) | Microsatellite (inframe_deletion +2 more) | not specified +3 more | |
Click to view in NCBI Gene