| | | Duplication (splice acceptor variant +1 more) | Normal pregnancy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication | Meckel syndrome, type 11 +1 more | |
| | | Deletion | Meckel syndrome, type 11 +1 more | |
| | | Duplication | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TMEM231-related disorder +3 more | |
| | | Inversion (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome and related disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | TMEM231-related disorder +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Indel (splice acceptor variant) | Meckel syndrome, type 11 | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | TMEM231-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | TMEM231-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Meckel syndrome, type 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 20 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 20 +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |