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Causes Gaucher’s disease, a recessive disorder whose symptoms include anemia, bruising, bone lesions, and spleen and liver issues. Reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004509/), numerous publications cite this variant as causing the disease.
High clinical importance, pathogenic
(The "high clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)