Links from Orgtrack
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Rafiq syndrome | |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | LOC127814297, POU4F3 (Q296*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | OTOG-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Rare genetic deafness +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness | |
| | | Microsatellite (inframe_deletion) | not specified +1 more | GConflicting classifications of pathogenicity |
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