| | LOC130060373, LOC130060374 +333 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060409, LOC130060410 +311 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060441, LOC130060442 +248 more | Copy number loss | See cases | |
| | SNORD3B-2, SNORD3C +253 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090457, LOC132090458 +248 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060388, LOC130060389 +247 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Autism | |
| | FAM106A, FAM106B +248 more | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060437, LOC130060438 +243 more | Copy number gain | See cases | |
| | LOC130060452, LOC130060453 +244 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060350, LOC130060351 +245 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060452, LOC130060453 +246 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060362, LOC130060363 +242 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Meckel syndrome, type 9 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Meckel syndrome, type 9 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (splice acceptor variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | B9D1-related condition +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Meckel syndrome, type 9 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (intron variant +2 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel syndrome, type 9 +1 more | |
| | | Microsatellite (3 prime UTR variant +2 more) | Joubert syndrome 27 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel syndrome, type 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Microsatellite (3 prime UTR variant +2 more) | Meckel syndrome, type 9 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Meckel-Gruber syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant +2 more) | Meckel-Gruber syndrome +1 more | |
| | | Deletion (frameshift variant +2 more) | Meckel-Gruber syndrome +1 more | |