| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | Neuronopathy, distal hereditary motor, autosomal recessive 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 7 | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome | |
| | ANKRD65, ARHGEF16
+97 more | Copy number loss | Chromosome 1p36 deletion syndrome | |
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