| | | Single nucleotide variant (3 prime UTR variant) | MKS1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MKS1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MKS1-related disorder +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MKS1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MKS1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 13 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MKS1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | MKS1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | MKS1-related disorder +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polydactyly +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Joubert syndrome 28 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 28 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder | |
| | | Deletion (inframe_indel) | MKS1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 28 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder +6 more | |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MKS1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 28 +6 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel syndrome, type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel-Gruber syndrome +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial aplasia of the vermis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MKS1-related disorder +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MKS1-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | MKS1-related disorder | |
| | | Deletion (intron variant) | MKS1-related disorder | |
| | | Single nucleotide variant (intron variant) | MKS1-related disorder | |
| | | Duplication (intron variant) | MKS1-related disorder | |