Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.
Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on PRPSAP2 gene are displayed below. The following symptoms were found in patients with a variant in PRPSAP2. However, patients may have been diagnosed with a different variant.
Send us your questions or comments related to the variant counts and/or patient phenotypes.