| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | B9D2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Insertion (frameshift variant) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome and related disorders +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Meckel syndrome, type 10 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Indel (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +4 more | |
| | | Indel (frameshift variant) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 10 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Insertion (intron variant) | Meckel syndrome, type 10 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Deletion | not provided | |
| | CEACAM21, CEACAM3 +84 more | Duplication | Maple syrup urine disease +3 more | |
| | | Duplication | Meckel-Gruber syndrome +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |