Links from Orgtrack
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Waardenburg syndrome type 2A | |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 3 | |
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Single nucleotide variant (intron variant) | Developmental cataract +17 more | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy type 9 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Abdominal distention +8 more | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal recessive 12 | |
| | | Deletion (inframe_indel) | Difficulty walking +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frequent falls +3 more | |
| | | Single nucleotide variant (missense variant) | Bilateral sensorineural hearing impairment +2 more | |
| | | Deletion (inframe_deletion +1 more) | Cryptorchidism +7 more | |
| | | Single nucleotide variant (nonsense) | Pyknodysostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Arthritis, sacroiliac +8 more | |
Click to view in NCBI Gene