| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DCDC1, LOC126861175 (A188S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (intron variant) | DCDC1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Deletion (frameshift variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (intron variant) | DCDC1-related condition | |
| | | Single nucleotide variant (intron variant) | DCDC1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | DCDC1-related condition | |
| | | Duplication (intron variant) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DCDC1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DCDC1, LOC126861175 (N159S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | DCDC1, LOC126861175 (F216L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DCDC1, LOC126861175 (K249Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | DCDC1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | DCDC1, LOC126861175 (T239M) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | DCDC1-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion | Aniridia 1 +1 more | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Aniridia 1 +1 more | |
| | | Deletion | Drash syndrome +5 more | |
| | ARL14EP, C11orf91 +23 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | |
| | | Copy number loss | Aniridia 1 | |
| | | Copy number loss | Aniridia 1 | |