A variant on Chromosome 9 in gene DYNC2I2, LOC126860772 (dynein 2 intermediate chain 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; DYNC2I2-related disorder