| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypotrichosis Type 3 (KRT74) | Woolly Hair | Autosomal Dominant | 12q12-q14.1 | Missense | KRT74 | 444C>G | Asn148Lys | Amino Acid Substitution | 0/Shimomura et al., 2010 |
| Hypotrichosis Type 3 (KRT74) | Woolly & hypotrichosis Hair | Autosomal Dominant | 12q12-14.1 | Splice site | KRT74 | IVS8-1G>A | Exon 9 skipping | Frame shift mutation | 0/Wasif et al., 2011 |
| Hypotrichosis Type 3 (KRT74) | Hypotrichosis Hair | Autosomal Dominant | 12q12-q14.1 | Missense | KRT74 | 1444G>A | Asp482Asn | Amino Acid Substitution | 0/Wasif et al., 2011 |
