| Label | Id | |
|---|---|---|
| NPC2, GLU20TER | GENE:OMIM | |
| NPC2, 1-BP DEL, 111A | GENE:OMIM | |
| NPC2, IVS2, G-A, +5 | GENE:OMIM | |
| NPC2, GLU118TER | GENE:OMIM | |
| NPC2, 1-BP DEL, 27G | GENE:OMIM | |
| NPC2, SER67PRO | GENE:OMIM | |
| NPC2, VAL39MET | GENE:OMIM | |
| CACNA1A, ARG192GLN | GENE:OMIM | |
| CACNA1A, THR666MET | GENE:OMIM | |
| CACNA1A, VAL714ALA | GENE:OMIM | |
| CACNA1A, ILE1811LEU | GENE:OMIM | |
| CACNA1A, 1-BP DEL, 4073C | GENE:OMIM | |
| CACNA1A, IVS24DS, G-A, +1 | GENE:OMIM | |
| CACNA1A, (CAG)n EXPANSION | GENE:OMIM | |
| CACNA1A, (CAG)n EXPANSION | GENE:OMIM |