Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autism +1 more | |
| | | Inversion | Microtia +1 more | |
| | | Translocation | Azoospermia +14 more | |
| | | Translocation | Posteriorly placed tongue +17 more | |
| | | Inversion | Global developmental delay +14 more | |
| | | Translocation | Round face +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy +24 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene