| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | |
| | LOC130064467, SPTBN4 (R2394P +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | |
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