Search Results for MYH9

Variant ID Gene Consequence cHGVS pHGVS ClinVar Interpretation Preliminary Strength Adjusted Strength
22-36678775-TC-T MYH9 Frameshift NM_002473.5:c.5821del NP_002464.1:p.Asp1941MetfsTer7 Pathogenic Moderate Supporting
22-36678800-G-A MYH9 Nonsense NM_002473.5:c.5797C>T NP_002464.1:p.Arg1933Ter Pathogenic Moderate Supporting
22-36682775-G-A MYH9 Nonsense NM_002473.5:c.5050C>T NP_002464.1:p.Gln1684Ter Uncertain_significance VeryStrong Strong
22-36718542-G-A MYH9 Nonsense NM_002473.5:c.637C>T NP_002464.1:p.Gln213Ter Uncertain_significance VeryStrong Strong
22-36745248-CAT-C MYH9 Frameshift NM_002473.5:c.32_33del NP_002464.1:p.Tyr11CysfsTer3 Likely_pathogenic VeryStrong Strong