| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC132088835, PASK (L687P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Seckel syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | LOC126859837, SYNE1 (R5623C +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CDH1-related diffuse gastric and lobular breast cancer syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane retraction syndrome 3 with or without deafness +2 more | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder +1 more | GConflicting classifications of pathogenicity |
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