| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862516, LOC126862517 +314 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060361, LOC130060362 +281 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060442, LOC130060443 +251 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060419, LOC130060420 +248 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060406, LOC130060407 +248 more | Copy number gain | 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 | |
| | | Deletion | Autism | |
| | DRC3, LOC130060351 +248 more | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060411, LOC130060412 +245 more | 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 | |
| | | Copy number gain | See cases | |
| | | 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 disorder +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) | not provided +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) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +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) | B9D1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +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 (3 prime UTR 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) | 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) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +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 | |