| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 8G>C | Ser3Thr | Amino Acid Substitution | Azeem et al., 2008/2008 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 436G>A | Gly146Arg | Amino Acid Substitution | Azeem et al., 2008/2008 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Insertion | 36insA | Asp13Argfs*4 | Pre-mature Termination | Azeem et al., 2008/2008 | |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Insertion | LPAR6 (P2RY5) | 160insA | Thr54Asnfs*5 | Pre-mature Termination | Azeem et al., 2008/2008 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Insertion | LPAR6 (P2RY5) | 66_69insCATG | Phe24Hisfs*29 | FS & PTC | Tariq et al., 2009/2009 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 188A>T | Asp63Val | Amino Acid Substitution | Tariq et al., 2009/2009 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 565G>A | Glu189Lys | Amino Acid Substitution | Tariq et al., 2009/2009 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 742A>T | Asn248Tyr | Amino Acid Substitution | Tariq et al., 2009/2009 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 830T>C | Leu277Pro | Amino Acid Substitution | Tariq et al., 2009/2009 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 562A>T | Ile188Phe | Amino Acid Substitution | Tariq et al., 2009/2009 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Insertion/Deletion | LPAR6 (P2RY5) | 172_177del,insT | Asn58Serfs*31 | FS & Pre-mature Termination | Shimomura et al., 2008/2008 |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Deletion | LPAR6 (P2RY5) | 410-426del17 | Pre-mature Termination | Kurban et al., 2013/2013 | |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 409T>C | Amino Acid Substitution | Kurban et al., 2013/2013 | |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Insertion | LPAR6 (P2RY5) | Ile194Phefs*11 | FS & Pre-mature Termination | Azhar et al., 2012/2012 | |
| Hypotrichosis Type 8 (LPAR6) | Hypotrichosis | Autosomal Recessive | 13q14.2 | Missense | LPAR6 (P2RY5) | 47A>T | Lys16Met | Amino acid substitution | 2019/Khan et al. 2019 |
