Skip to main content
Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

Fig. 5

Characterization of the CLN6 variant spectrum. Shown are the total numbers of distinct variants within each class in 94 homozygous mono-allelic, and 3 compound heterozygous bi-allelic cases (relative frequencies in brackets). A Distribution of distinct variants classified according to clinical significance as pathogenic (P), likely pathogenic (LP), or a variant of uncertain significance (VUS). B Distribution of the causative variants at the protein level. The loss of function (LoF) group comprises frameshift, splicing, nonsense, start loss mutations, and gross deletions or duplications. C Numbers of previously published vs. novel described variants in this study

Back to article page