| | | Deletion (5 prime UTR variant) | TMEM67-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Meckel syndrome, type 3 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 14 +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Nephronophthisis 11 +2 more | |
| | | Microsatellite (non-coding transcript variant +2 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Meckel-Gruber syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Joubert syndrome 6 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial aplasia of the vermis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Nephronophthisis 11 +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Meckel-Gruber syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +2 more | |
| | | Deletion (frameshift variant +1 more) | TMEM67-Related Disorders +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome and related disorders +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +9 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 11 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TMEM67-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +7 more | |
| | | Deletion (frameshift variant +1 more) | TMEM67-Related Disorders | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +9 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Nephronophthisis 11 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +27 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | TMEM67-related condition +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Kidney disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 14 +9 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kidney disorder +10 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 6 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel-Gruber syndrome +6 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 6 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 6 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Joubert syndrome 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 11 +2 more | |
| | | Single nucleotide variant (genic downstream transcript variant) | Meckel syndrome, type 3 +2 more | |