| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | 2541G>A | Trp847* | Premature Termination | 0/Mehmood et al., 2015 |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Missense | HR | 854G>A | Gly285Ser | Amino Acid Substitution | 0/Ahmed et al., 2013 |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Missense | HR | Thr1022Ala | Amino Acid Substitution | 0/Ahmad et al., 1998 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Missense | HR | 3407T>A | Val1136Asp | Amino Acid Substitution | 0/Cichon et al., 1998 |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | 1432C>T | Glu478* | Premature Termination | 0/Sprecher et al., 1999 |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Deletion | HR | 431delC | Frame shift mutation | 0/John et al., 2005 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Deletion | HR | 2021delG | Frame shift mutation | 0/John et al., 2005 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p12 | Insertion | HR | 202Ins11bp | Frame shift mutation | 0/Wali et al., 2006 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | Gln323* | Premature Termination | 0/kim et al., 2007 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | Gln502* | Premature Termination | 0/kim et al., 2007 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | Arg940* | Premature Termination | 0/kim et al., 2007 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | Cys690* | Premature Termination | 0/Azeem et al., 2011 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Nonsense | HR | Arg819* | Premature Termination | 0/Azeem et al., 2011 | |
| Atrichia with papular lesions (HR) | Complete hair loss | Autosomal Recessive | 8p21.3 | Missense | HR | Pro1157Arg | Amino Acid Substitution | 0/Azeem et al., 2011 |
