| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Niemann-Pick disease type C1 (NPC1) | Niemann-Pick disease, type C1 | Autosomal Recessive | 18q11.2 | Nonsense | NPC1 | c.1097C>G | Ser366* | Premature Termination | Cheema et al.,/2020 |
| Niemann-Pick disease type C1 (NPC1) | Niemann-Pick disease, type C1 | Autosomal Recessive | 18q11.2 | Missense | NPC1 | c.2608T>A | Ser870Thr | Substitution of amino acid | Cheemaet al.,/2020 |
| Niemann-Pick disease type C1 (NPC1) | Niemann-Pick disease, type C1 | Autosomal Recessive | 18q11.2 | Frameshift | NPC1 | c.2978dup | Asp994Argfs*13 | Frameshift and Premature Termination | Cheema et al.,/2020 |
| Niemann-Pick disease type C1 (NPC1) | Niemann-Pick disease, type C1 | Autosomal Recessive | 18q11.2 | Missense | NPC1 | c.3020C>T | Pro1007Leu | Substitution of amino acid | Cheema et al.,/2020 |
| Niemann-Pick disease, type C1 (NPC1) | Niemann-Pick disease, type C1 | Autosomal Recessive | 18q11.2 | Missense | NPC1 | c.3503G>A | Cys1168Tyr | Substitution of amino acid | Cheema et al.,/2020 |
