| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | DLL3, LOC130064417
+1 more (F172C) | Single nucleotide variant (missense variant) | Leukodystrophy and acquired microcephaly with or without dystonia; +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Syndactyly +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
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