This genomic variant is located on Chromosome 11, within the LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Autosomal recessive distal spinal muscular atrophy 1