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Table 2 List of search results in ClinVar

From: De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

Individual cDNA Protein De novo GnomAD ACMG scoring Pathogenicity
Patient 1 c.970G>A p.G324S Yes Not reported PS2 + PM1 + PM2 + PP3 Likely path
1 c.970G>A p.G324S No Not reported PM1 + PM2 + PP3 VUS
Patient 2 c.889G>A p.A297T Yes Not reported PS2 + PM1 + PM2 + PP3 Likely path
1 c.889G>A p.A297T No Not reported PM1 + PM2 + PP3 VUS
2 c.889G>A p.A297T No Not reported PM1 + PM2 + PP3 VUS
3 c.889G>A p.A297T No Not reported PM1 + PM2 + PP3 VUS
4 c.889G>A p.A297T No Not reported PM1 + PM2 + PP3 VUS
  1. de novo parents available to confirm de novo status, likely path likely pathogenic, VUS variants of uncertain significance. Each pathogenic criterion is weighted as very strong (PVS), strong (PS); moderate (PM), or supporting (PP)
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BMC Medical Genomics

ISSN: 1755-8794

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