Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) | 4627 | MYH9 | Pathogenic | 80338835 | RCV000015116; RCV000015117; RCV000015118; RCV000032227; | N | MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1854520,OMIM:605249; MedGen:CN073381 | 22 | 36678800 | 36678800 | NM_002473.5:c.5797C>T | NP_002464.1:p.Arg1933Ter | NC_000022.10:g.36678800G>A | OMIM Allelic Variant:160775.0001 | C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome | | |
NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) | 4627 | MYH9 | Pathogenic | 80338834 | RCV000015119; RCV000015120; RCV000032226; | N | MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:CN073381 | 22 | 36680520 | 36680520 | NM_002473.5:c.5521G>A | NP_002464.1:p.Glu1841Lys | NC_000022.10:g.36680520C>T | OMIM Allelic Variant:160775.0002 | C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders | | |
NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) | 4627 | MYH9 | Pathogenic | 80338831 | RCV000015123; RCV000032223; | N | MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:CN073381 | 22 | 36688106 | 36688106 | NM_002473.5:c.4270G>C | NP_002464.1:p.Asp1424His | NC_000022.10:g.36688106C>A,NC_000022.10:g.36688106C>G,NC_000022.10:g.36688106C>T | OMIM Allelic Variant:160775.0005 | C0403445 153640 Fechtner syndrome; CN073381 MYH9 related disorders | | |
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) | 4627 | MYH9 | Pathogenic | 80338831 | RCV000015134; RCV000015135; RCV000015137; RCV000015136; RCV000032222; | N | MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1834478,OMIM:600208,ORPHA:182050; MedGen:C1854520,OMIM:605249; MedGen:CN073381 | 22 | 36688106 | 36688106 | NM_002473.5:c.4270G>A | NP_002464.1:p.Asp1424Asn | NC_000022.10:g.36688106C>A,NC_000022.10:g.36688106C>G,NC_000022.10:g.36688106C>T | OMIM Allelic Variant:160775.0010 | C0403445 153640 Fechtner syndrome; C1834478 600208 Macrothrombocytopenia and progressive sensorineural deafness; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome | | |
NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile) | 4627 | MYH9 | Pathogenic | 121913656 | RCV000015124; RCV000015125; | N | MedGen:C0340978,OMIM:155100; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008 | 22 | 36691572 | 36691572 | NM_002473.5:c.3464C>T | NP_002464.1:p.Thr1155Ile | NC_000022.10:g.36691572G>A | OMIM Allelic Variant:160775.0007 | C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly | | |
NM_002473.5(MYH9):c.2105G>A (p.Arg702His) | 4627 | MYH9 | Pathogenic | 80338827 | RCV000015132; RCV000015133; RCV000032217; | N | MedGen:C0398641,OMIM:153650,SNOMED CT:234485006; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:CN073381 | 22 | 36702030 | 36702030 | NM_002473.5:c.2105G>A | NP_002464.1:p.Arg702His | NC_000022.10:g.36702030C>T | OMIM Allelic Variant:160775.0009 | C0398641 153650 Epstein syndrome; C0403445 153640 Fechtner syndrome; CN073381 MYH9 related disorders | | |
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) | 4627 | MYH9 | Pathogenic | 80338826 | RCV000015129; RCV000015126; RCV000015128; RCV000015127; RCV000032216; | N | MedGen:C0340978,OMIM:155100; MedGen:C0398641,OMIM:153650,SNOMED CT:234485006; MedGen:C0403445,OMIM:153640,SNOMED CT:236422008; MedGen:C1854520,OMIM:605249; MedGen:CN073381 | 22 | 36702031 | 36702031 | NM_002473.5:c.2104C>T | NP_002464.1:p.Arg702Cys | NC_000022.10:g.36702031G>A | OMIM Allelic Variant:160775.0006 | C0398641 153650 Epstein syndrome; C0403445 153640 Fechtner syndrome; C0340978 155100 May-Hegglin anomaly; CN073381 MYH9 related disorders; C1854520 605249 Sebastian syndrome | | |