Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Hearing loss, autosomal recessive 119 | |
| | AFG2B, LOC130056998 (E207fs) | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Hearing loss, autosomal recessive 119 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with hearing loss and spasticity +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene