Given this context: Chromosome 11, gene LOC126861245, IGHMBP2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:68701479-68702678| immunoglobulin mu DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2S