| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992145, LOC129992146 +1209 more | Copy number gain | See cases | |
| | AFAP1, AFAP1-AS1 +633 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992028, LOC129992029 +691 more | Copy number loss | See cases | |
| | LOC126806993, LOC126806994 +702 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992237, LOC129992238 +861 more | Copy number gain | See cases | |
| | LOC129992157, LOC129992158 +832 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Inversion | Dihydropteridine reductase deficiency | |
| | FGFBP1, LOC126806998 +393 more | Copy number loss | 4p partial monosomy syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Meckel syndrome, type 6 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Meckel syndrome, type 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Joubert syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Meckel syndrome, type 6 +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 (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +1 more | |
| | | Deletion (nonsense) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +1 more | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Duplication (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | 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 +2 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Deletion | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +1 more | |
| | | Deletion (frameshift variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Meckel-Gruber syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Microsatellite (intron variant) | Meckel-Gruber syndrome +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 (5 prime UTR variant +2 more) | CC2D2A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | CC2D2A-related disorder | |
| | | 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) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Microsatellite (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |