| | LOC123477714, LOC123477715 +1267 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | TRMT44, USP17L10 +633 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 | |
| | LOC129992257, LOC129992258 +623 more | Copy number loss | See cases | |
| | LOC129992439, LOC129992440 +1039 more | Copy number gain | See cases | |
| | LOC129992004, LOC129992005 +861 more | Copy number gain | See cases | |
| | LOC129992188, LOC129992189 +832 more | Copy number loss | See cases | |
| | LOC129992143, LOC129992144 +618 more | Copy number gain | See cases | |
| | LOC123477718, LOC123477719 +987 more | Copy number gain | See cases | |
| | USP17L13, USP17L15 +716 more | Copy number gain | See cases | |
| | LOC129992238, LOC129992239 +659 more | Copy number loss | See cases | |
| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262 +962 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992303, LOC132089075 +365 more | 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) | CC2D2A-Related Disorders +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) | not provided +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) | Familial aplasia of the vermis +2 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 +2 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) | Meckel-Gruber syndrome +2 more | GPathogenic/Likely pathogenic |
| | | 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) | Meckel-Gruber syndrome +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 condition | |
| | | 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 condition | |
| | | 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) | Meckel-Gruber syndrome +1 more | |