| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Meckel Syndrome (MKS3, TMEM67) | Renal,polydactyl,hepatic,cyst etc problem | Autosomal Recessive | 8q22.1 | Deletion | TMEM67 | 647del | Val217Leufs*5 | Frame shift mutation & PTC | Smith et al., 2006/2006 |
| Meckel Syndrome (MKS3, TMEM67) | Renal,polydactyl,hepatic,cyst etc problem | Autosomal Recessive | 8q22.1 | Splice site | TMEM67 | 715-2A>G | Smith et al., 2006/2006 | ||
| Meckel Syndrome (MKS3, TMEM67) | Renal,polydactyl,hepatic,cyst etc problem | Autosomal Recessive | 8q22.1 | Missense | TMEM67 | 1127A>C | Gln376Pro | Amino Acid Substitution | Smith et al., 2006/2006 |
| Meckel Syndrome (MKS3, TMEM67) | Renal,polydactyl,hepatic,cyst etc problem | Autosomal Recessive | 8q22.1 | Splice site | TMEM67 | 1575+1G>A | Smith et al., 2006/2006 | ||
| Meckel Syndrome (MKS3, TMEM67) | Renal,polydactyl,hepatic,cyst etc problem | Autosomal Recessive | 8q22.1 | Duplication | TMEM67 | 1448_1451dup | Gly484fs*108 | Frame shift mutation & PTC | Khaddour et al., 2007/2007 |
