Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NC_000012.12:g.(?_110910819)_(110911175_?)del | 4633 | MYL2 | Pathogenic | -1 | RCV000469216; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348623 | 111348979 | | | | - | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.*166G>A | 4633 | MYL2 | Uncertain significance | 376236989 | RCV001113490; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348715 | 111348715 | | | 12:g.111348715C>T | - | | |
NM_000432.4(MYL2):c.*102C>A | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 542961456 | RCV000286639|RCV001672464; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900 | 12 | 111348779 | 111348779 | | | 12:g.111348779G>T | ClinGen:CA10632045 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.*84C>T | 4633 | MYL2 | Uncertain significance | 867853414 | RCV001114908|RCV002482211; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348797 | 111348797 | | | 12:g.111348797G>A | - | | |
NC_000012.11:g.(?_111348861)_(111348999_?)del | 4633 | MYL2 | Uncertain significance | -1 | RCV001343350; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348861 | 111348999 | | | -1 | - | | |
NM_000432.4(MYL2):c.*10C>T | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 193922452 | RCV000341584|RCV001696177|RCV003234928; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900|MedGen:CN169374 | 12 | 111348871 | 111348871 | | | 12:g.111348871G>A | ClinGen:CA009835 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.501G>A (p.Ter167=) | 4633 | MYL2 | Likely benign | 2136767524 | RCV002090285; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348881 | 111348881 | | | 111348881 | - | | |
NC_000012.11:g.(?_111348881)_(111358333_?)del | 4633 | MYL2 | Uncertain significance | -1 | RCV003111222; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348881 | 111358333 | | | | - | | |
NC_000012.11:g.(?_111348881)_(111358333_?)dup | 4633 | MYL2 | Uncertain significance | -1 | RCV003111224; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348881 | 111358333 | | | | - | | |
NM_000432.4(MYL2):c.499T>G (p.Ter167Glu) | 4633 | MYL2 | Uncertain significance | 2071647433 | RCV001321375; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348883 | 111348883 | | | 111348883 | - | | |
NM_000432.4(MYL2):c.497A>T (p.Asp166Val) | 4633 | MYL2 | Likely pathogenic | 199474815 | RCV000024460|RCV001852571; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348885 | 111348885 | | | 12:g.111348885T>A | ClinGen:CA010471,Leiden Muscular Dystrophy (MYL2):MYL2_00010,UniProtKB:P10916#VAR_019844 | CN517202 not provided; | |
NM_000432.4(MYL2):c.497A>C (p.Asp166Ala) | 4633 | MYL2 | Uncertain significance | 199474815 | RCV001209931; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348885 | 111348885 | | | 12:g.111348885T>G | - | | |
NM_000432.4(MYL2):c.496G>A (p.Asp166Asn) | 4633 | MYL2 | Uncertain significance | 730880952 | RCV001323928|RCV001751627; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111348886 | 111348886 | | | 111348886 | - | | |
NM_000432.4(MYL2):c.496G>C (p.Asp166His) | 4633 | MYL2 | Uncertain significance | 730880952 | RCV002045135; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348886 | 111348886 | | | 111348886 | - | | |
NM_000432.4(MYL2):c.493A>G (p.Lys165Glu) | 4633 | MYL2 | Uncertain significance | -1 | RCV002832945; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348889 | 111348889 | | | NC_000012.11:g.111348889T>C | - | | |
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys) | 4633 | MYL2 | Uncertain significance | -1 | RCV002297899|RCV002346586; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348892 | 111348892 | | | 111348892 | - | | |
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 397516407 | RCV000036409|RCV000639678|RCV001193582; | N | Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374 | 12 | 111348894 | 111348894 | | | 12:g.111348894T>G | ClinGen:CA010447 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 397516407 | RCV000158908|RCV000223748|RCV002515080; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348894 | 111348894 | | | 12:g.111348894T>C | ClinGen:CA010454 | CN517202 not provided; | |
NM_000432.4(MYL2):c.487G>C (p.Glu163Gln) | 4633 | MYL2 | Uncertain significance | 1131692323 | RCV000496070; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348895 | 111348895 | | | NC_000012.11:g.111348895C>G | ClinGen:CA386696711 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.487G>A (p.Glu163Lys) | 4633 | MYL2 | Uncertain significance | 1131692323 | RCV001359350; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348895 | 111348895 | | | 111348895 | - | | |
NM_000432.4(MYL2):c.486A>C (p.Gly162=) | 4633 | MYL2 | Likely benign | 1177510197 | RCV001884180|RCV002334811; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348896 | 111348896 | | | 111348896 | - | | |
NM_000432.4(MYL2):c.486A>T (p.Gly162=) | 4633 | MYL2 | Likely benign | -1 | RCV002824490; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348896 | 111348896 | | | | - | | |
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 199474814 | RCV000119380|RCV000156897|RCV000226326|RCV000627045; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111348898 | 111348898 | | | 12:g.111348898C>T | ClinGen:CA010431 | C0878544 Cardiomyopathy; | |
NM_000432.4(MYL2):c.484G>T (p.Gly162Ter) | 4633 | MYL2 | Uncertain significance | 199474814 | RCV002033031; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348898 | 111348898 | | | 111348898 | - | | |
NM_000432.4(MYL2):c.483C>A (p.His161Gln) | 4633 | MYL2 | Uncertain significance | 886039108 | RCV000247783|RCV001209885|RCV001726080; | N | MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111348899 | 111348899 | | | NC_000012.11:g.111348899G>T | ClinGen:CA10587734 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.483C>T (p.His161=) | 4633 | MYL2 | Likely benign | 886039108 | RCV001405765|RCV001186028|RCV002339469; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736 | 12 | 111348899 | 111348899 | | | 12:g.111348899G>A | - | | |
NM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup) | 4633 | MYL2 | Uncertain significance | 1566147363 | RCV000706166; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348903 | 111348904 | | | 12:g.111348903_111348904insTGA | - | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser) | 4633 | MYL2 | Uncertain significance | 2071647980 | RCV001221689|RCV001563131|RCV002339586; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN230736 | 12 | 111348903 | 111348903 | | | 12:g.111348903G>C | - | | |
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr) | 4633 | MYL2 | Uncertain significance | -1 | RCV002337726|RCV003096459; | N | MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348906 | 111348906 | | | 111348906 | - | | |
NM_000432.4(MYL2):c.475A>G (p.Ile159Val) | 4633 | MYL2 | Uncertain significance | 747098269 | RCV001181002|RCV001876013; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348907 | 111348907 | | | 12:g.111348907T>C | - | | |
NM_000432.4(MYL2):c.474C>T (p.Ile158=) | 4633 | MYL2 | Likely benign | 1423130699 | RCV001186204|RCV001442408|RCV002339470; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348908 | 111348908 | | | 12:g.111348908G>A | - | | |
NM_000432.4(MYL2):c.472A>G (p.Ile158Val) | 4633 | MYL2 | Uncertain significance | 2071648139 | RCV001187825|RCV001367322; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348910 | 111348910 | | | 12:g.111348910T>C | - | | |
NM_000432.4(MYL2):c.470A>G (p.His157Arg) | 4633 | MYL2 | Uncertain significance | 730880951 | RCV000158933|RCV000766481|RCV001061872; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348912 | 111348912 | | | 12:g.111348912T>C | ClinGen:CA010412 | CN169374 not specified; | |
NM_000432.4(MYL2):c.469C>T (p.His157Tyr) | 4633 | MYL2 | Uncertain significance | 777223055 | RCV000817717|RCV002332690|RCV003226983; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MedGen:CN517202 | 12 | 111348913 | 111348913 | | | 12:g.111348913G>A | - | | |
NM_000432.4(MYL2):c.468G>A (p.Val156=) | 4633 | MYL2 | Likely benign | 137984206 | RCV001182519|RCV002068319|RCV003284021; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348914 | 111348914 | | | 12:g.111348914C>T | - | | |
NM_000432.4(MYL2):c.465G>C (p.Leu155=) | 4633 | MYL2 | Likely benign | 1256208287 | RCV001444447; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348917 | 111348917 | | | 12:g.111348917C>G | - | | |
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) | 4633 | MYL2 | Uncertain significance | 149078011 | RCV000036407|RCV000544363|RCV001189706|RCV001552678|RCV003162315; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202|MedGen:CN230736 | 12 | 111348923 | 111348923 | | | 12:g.111348923C>G | ClinGen:CA010395 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.456C>T (p.Tyr152=) | 4633 | MYL2 | Benign/Likely benign | 199815885 | RCV000244942|RCV000534152|RCV000777833|RCV001722368|RCV001729497; | N | MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MedGen:CN169374 | 12 | 111348926 | 111348926 | | | NC_000012.11:g.111348926G>A | ClinGen:CA043194 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp) | 4633 | MYL2 | Uncertain significance | 766036025 | RCV001352216; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348928 | 111348928 | | | 111348928 | - | | |
NM_000432.4(MYL2):c.447C>T (p.Asn149=) | 4633 | MYL2 | Likely benign | 397516405 | RCV000036406|RCV000560339; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348935 | 111348935 | | | 12:g.111348935G>A | ClinGen:CA010369 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.444C>T (p.Gly148=) | 4633 | MYL2 | Likely benign | 1555257596 | RCV000545501|RCV002330873; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348938 | 111348938 | | | NC_000012.11:g.111348938G>A | ClinGen:CA481750760 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.436G>A (p.Val146Met) | 4633 | MYL2 | Uncertain significance | 370075755 | RCV000623019|RCV001180587|RCV001568357|RCV001855290|RCV002331095; | N | MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0005453,MedGen:C0152021|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGe | 12 | 111348946 | 111348946 | | | NC_000012.11:g.111348946C>T | ClinGen:CA043110 | C0949658 Primary familial hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.436G>C (p.Val146Leu) | 4633 | MYL2 | Uncertain significance | -1 | RCV003010376; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348946 | 111348946 | | | NC_000012.11:g.111348946C>G | - | | |
NM_000432.4(MYL2):c.435C>T (p.Asp145=) | 4633 | MYL2 | Likely benign | 766907447 | RCV001183082|RCV001505935|RCV003169407; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348947 | 111348947 | | | 12:g.111348947G>A | - | | |
NM_000432.4(MYL2):c.434A>G (p.Asp145Gly) | 4633 | MYL2 | Uncertain significance | 1255677666 | RCV001317440; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348948 | 111348948 | | | 111348948 | - | | |
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) | 4633 | MYL2 | Uncertain significance | 199567559 | RCV000172052|RCV000795137|RCV000852437|RCV001191379|RCV002326947|RCV003323424; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MedGen:CN169374 | 12 | 111348949 | 111348949 | | | NC_000012.11:g.111348949C>T | ClinGen:CA010362 | CN517202 not provided; | |
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 1566147422 | RCV000770390|RCV001089865|RCV001553794|RCV001507317|RCV003166034; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020|MedGen:CN230736 | 12 | 111348950 | 111348951 | | | NC_000012.11:g.111348950_111348951del | OMIM:160781.0009 | | |
NM_000432.4(MYL2):c.432del (p.Asp145fs) | 4633 | MYL2 | Uncertain significance | 2071649414 | RCV001347471|RCV001553793; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424 | 12 | 111348950 | 111348950 | | | 111348949 | OMIM:160781.0008 | | |
NM_000432.4(MYL2):c.431del (p.Pro144fs) | 4633 | MYL2 | Uncertain significance | 786205430 | RCV000171842|RCV000618518|RCV001553792|RCV001852081; | N | Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:CN230736|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348951 | 111348951 | | | NC_000012.11:g.111348956del | ClinGen:CA010340,OMIM:160781.0007 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.431C>G (p.Pro144Arg) | 4633 | MYL2 | Uncertain significance | 755993281 | RCV001039065|RCV001597243; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111348951 | 111348951 | | | 12:g.111348951G>C | - | | |
NM_000432.4(MYL2):c.431C>A (p.Pro144His) | 4633 | MYL2 | Uncertain significance | 755993281 | RCV001064899; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348951 | 111348951 | | | 12:g.111348951G>T | - | | |
NM_000432.4(MYL2):c.431C>T (p.Pro144Leu) | 4633 | MYL2 | Uncertain significance | -1 | RCV003087256; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348951 | 111348951 | | | NC_000012.11:g.111348951G>A | - | | |
NM_000432.4(MYL2):c.430C>A (p.Pro144Thr) | 4633 | MYL2 | Uncertain significance | 777689913 | RCV000473250; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348952 | 111348952 | | | NC_000012.11:g.111348952G>T | ClinGen:CA042991 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala) | 4633 | MYL2 | Uncertain significance | 777689913 | RCV000772853|RCV000809944; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348952 | 111348952 | | | NC_000012.11:g.111348952G>C | - | | |
NM_000432.4(MYL2):c.429C>G (p.Pro143=) | 4633 | MYL2 | Likely benign | 374328118 | RCV000036405|RCV000462127|RCV002326735; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348953 | 111348953 | | | 12:g.111348953G>C | ClinGen:CA010353 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) | 4633 | MYL2 | Uncertain significance | 727504341 | RCV000154458|RCV000763791|RCV002326880|RCV002478451; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424 | 12 | 111348954 | 111348954 | | | 12:g.111348954G>A | ClinGen:CA010349 | CN169374 not specified; | |
NM_000432.4(MYL2):c.427C>A (p.Pro143Thr) | 4633 | MYL2 | Uncertain significance | 1555257600 | RCV000639675|RCV002223234; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111348955 | 111348955 | | | NC_000012.11:g.111348955G>T | ClinGen:CA386696952 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.425T>C (p.Phe142Ser) | 4633 | MYL2 | Uncertain significance | 1414230972 | RCV001890925; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348957 | 111348957 | | | 111348957 | - | | |
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) | 4633 | MYL2 | Uncertain significance | 747192296 | RCV001526320|RCV001776247|RCV002329656|RCV002568125; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348958 | 111348958 | | | 111348958 | - | | |
NM_000432.4(MYL2):c.424T>A (p.Phe142Ile) | 4633 | MYL2 | Uncertain significance | -1 | RCV002993891; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348958 | 111348958 | | | NC_000012.11:g.111348958A>T | - | | |
NM_000432.4(MYL2):c.422C>A (p.Ala141Asp) | 4633 | MYL2 | Uncertain significance | 1024307408 | RCV001213004|RCV001806050; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111348960 | 111348960 | | | 12:g.111348960G>T | - | | |
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) | 4633 | MYL2 | Uncertain significance | 727504559 | RCV000155724|RCV000530339|RCV000852438|RCV001555854; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002 | 12 | 111348961 | 111348961 | | | 12:g.111348961C>T | ClinGen:CA010334 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.420C>T (p.Ala140=) | 4633 | MYL2 | Likely benign | 369489428 | RCV002064634|RCV002332812; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111348962 | 111348962 | | | 12:g.111348962G>A | - | | |
NM_000432.4(MYL2):c.419C>T (p.Ala140Val) | 4633 | MYL2 | Uncertain significance | -1 | RCV002617089; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348963 | 111348963 | | | NC_000012.11:g.111348963G>A | - | | |
NM_000432.4(MYL2):c.418G>A (p.Ala140Thr) | 4633 | MYL2 | Uncertain significance | 1467265277 | RCV000639672; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348964 | 111348964 | | | NC_000012.11:g.111348964C>T | ClinGen:CA386696998 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.417C>T (p.Phe139=) | 4633 | MYL2 | Likely benign | 781107246 | RCV001176106|RCV001429557; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348965 | 111348965 | | | 12:g.111348965G>A | - | | |
NM_000432.4(MYL2):c.413T>A (p.Met138Lys) | 4633 | MYL2 | Uncertain significance | 748760581 | RCV001042334|RCV001189350|RCV003117716; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202 | 12 | 111348969 | 111348969 | | | 12:g.111348969A>T | - | | |
NM_000432.4(MYL2):c.409C>T (p.Gln137Ter) | 4633 | MYL2 | Uncertain significance | -1 | RCV002601203; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348973 | 111348973 | | | NC_000012.11:g.111348973G>A | - | | |
NM_000432.4(MYL2):c.408C>T (p.Asp136=) | 4633 | MYL2 | Likely benign | 1356499130 | RCV001526216|RCV002324126|RCV002070335; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348974 | 111348974 | | | 111348974 | - | | |
NM_000432.4(MYL2):c.403G>T (p.Val135Phe) | 4633 | MYL2 | Uncertain significance | -1 | RCV003075417; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348979 | 111348979 | | | NC_000012.11:g.111348979C>A | - | | |
NM_000432.4(MYL2):c.403-1G>C | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 199474813 | RCV000024459|RCV000466598|RCV001553791|RCV003162260; | N | MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MedGen:CN230736 | 12 | 111348980 | 111348980 | | | 12:g.111348980C>G | ClinGen:CA010295,Leiden Muscular Dystrophy (MYL2):MYL2_00009,OMIM:160781.0006 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.403-1G>T | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 199474813 | RCV000455988|RCV000801781; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348980 | 111348980 | | | NC_000012.11:g.111348980C>A | ClinGen:CA16609752 | CN169374 not specified; | |
NM_000432.4(MYL2):c.403-1G>A | 4633 | MYL2 | Pathogenic | -1 | RCV003068888; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348980 | 111348980 | | | NC_000012.11:g.111348980C>T | - | | |
NM_000432.4(MYL2):c.403-4G>C | 4633 | MYL2 | Likely benign | 200888544 | RCV001448295; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348983 | 111348983 | | | NC_000012.11:g.111348983C>G | ClinGen:CA349991 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.403-6T>C | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 763332557 | RCV001179272|RCV002558905; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348985 | 111348985 | | | 12:g.111348985A>G | - | | |
NM_000432.4(MYL2):c.403-7A>C | 4633 | MYL2 | Likely benign | 2071650175 | RCV001421367; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348986 | 111348986 | | | 111348986 | - | | |
NM_000432.4(MYL2):c.403-8C>T | 4633 | MYL2 | Likely benign | 1440682502 | RCV001191155|RCV001459181; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348987 | 111348987 | | | 12:g.111348987G>A | - | | |
NM_000432.4(MYL2):c.403-11G>A | 4633 | MYL2 | Likely benign | 1212140808 | RCV001192263|RCV002560149; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348990 | 111348990 | | | 12:g.111348990C>T | - | | |
NM_000432.4(MYL2):c.403-15G>C | 4633 | MYL2 | Likely benign | 202105636 | RCV001178625|RCV002067891; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348994 | 111348994 | | | 12:g.111348994C>G | - | | |
NM_000432.4(MYL2):c.403-18G>A | 4633 | MYL2 | Likely benign | -1 | RCV003079377; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348997 | 111348997 | | | NC_000012.11:g.111348997C>T | - | | |
NM_000432.4(MYL2):c.403-20G>A | 4633 | MYL2 | Likely benign | 759088974 | RCV001980708; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111348999 | 111348999 | | | 111348999 | - | | |
NC_000012.11:g.(?_111350880)_(111352114_?)dup | 4633 | MYL2 | Uncertain significance | -1 | RCV003111225; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350880 | 111352114 | | | | - | | |
NM_000432.4(MYL2):c.402+17A>G | 4633 | MYL2 | Likely benign | 1555257745 | RCV000609833|RCV001860264; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350883 | 111350883 | | | 12:g.111350883T>C | ClinGen:CA658797956 | CN169374 not specified; | |
NM_000432.4(MYL2):c.402+10T>A | 4633 | MYL2 | Likely benign | 2136770333 | RCV002168602; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350890 | 111350890 | | | 111350890 | - | | |
NM_000432.4(MYL2):c.402+9G>A | 4633 | MYL2 | Likely benign | -1 | RCV003069033; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350891 | 111350891 | | | NC_000012.11:g.111350891C>T | - | | |
NM_000432.4(MYL2):c.402+8G>T | 4633 | MYL2 | Uncertain significance | 886048959 | RCV000372860; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350892 | 111350892 | | | 12:g.111350892C>A | ClinGen:CA10640207 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.402+7G>C | 4633 | MYL2 | Likely benign | -1 | RCV003024861; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350893 | 111350893 | | | NC_000012.11:g.111350893C>G | - | | |
NM_000432.4(MYL2):c.402+6G>C | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 749765328 | RCV000228499|RCV001175834; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111350894 | 111350894 | | | NC_000012.11:g.111350894C>G | ClinGen:CA042563 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.402+1G>T | 4633 | MYL2 | Uncertain significance | 1555257746 | RCV000579194|RCV001860014; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350899 | 111350899 | | | 12:g.111350899C>A | ClinGen:CA386697684 | CN169374 not specified; | |
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 143139258 | RCV000036404|RCV000119379|RCV000154179|RCV000211874|RCV000248445|RCV000491626|RCV000624611|RCV000678725|RCV000776290; | N | Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0013262,MedGen:C1834481,OMIM:613426, Orphanet | 12 | 111350901 | 111350901 | | | 12:g.111350901T>G | ClinGen:CA010278 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.400G>T (p.Glu134Ter) | 4633 | MYL2 | Uncertain significance | 2136770365 | RCV001886628; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350902 | 111350902 | | | 111350902 | - | | |
NM_000432.4(MYL2):c.394A>C (p.Lys132Gln) | 4633 | MYL2 | Uncertain significance | 1387580638 | RCV001936598; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350908 | 111350908 | | | 111350908 | - | | |
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr) | 4633 | MYL2 | Uncertain significance | -1 | RCV002805883; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350911 | 111350911 | | | NC_000012.11:g.111350911A>T | - | | |
NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr) | 4633 | MYL2 | Uncertain significance | -1 | RCV002659260; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350913 | 111350913 | | | NC_000012.11:g.111350913A>T | - | | |
NM_000432.4(MYL2):c.387G>A (p.Arg129=) | 4633 | MYL2 | Likely benign | 774686046 | RCV000618872|RCV001190199|RCV001417069; | N | MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350915 | 111350915 | | | 12:g.111350915C>T | ClinGen:CA042421 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.381G>A (p.Ala127=) | 4633 | MYL2 | Benign/Likely benign | 2233261 | RCV000030325|RCV000036402|RCV000234665|RCV000245283|RCV000770392|RCV001705608|RCV003125846; | N | MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3 | 12 | 111350921 | 111350921 | | | 12:g.111350921C>T | ClinGen:CA010251 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.380C>T (p.Ala127Val) | 4633 | MYL2 | Uncertain significance | 141878747 | RCV000461391|RCV002466505|RCV003298489; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN230736 | 12 | 111350922 | 111350922 | | | NC_000012.11:g.111350922G>A | ClinGen:CA042393 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) | 4633 | MYL2 | Uncertain significance | 1064796377 | RCV000478881|RCV001064739|RCV001170434|RCV002481532; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424 | 12 | 111350926 | 111350926 | | | 12:g.111350926G>C | ClinGen:CA16619434 | CN169374 not specified; | |
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter) | 4633 | MYL2 | Likely pathogenic | 1064796377 | RCV001723361|RCV002506746; | N | MedGen:C3661900|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350926 | 111350926 | | | 111350926 | - | | |
NM_000432.4(MYL2):c.375G>A (p.Thr125=) | 4633 | MYL2 | Likely benign | 190020833 | RCV000551899|RCV000777852|RCV002476147|RCV003352910; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MedGen:CN230736 | 12 | 111350927 | 111350927 | | | NC_000012.11:g.111350927C>T | ClinGen:CA042349 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.375G>C (p.Thr125=) | 4633 | MYL2 | Likely benign | 190020833 | RCV001469613|RCV002350957; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111350927 | 111350927 | | | 111350927 | - | | |
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) | 4633 | MYL2 | Uncertain significance | 375667565 | RCV000036400|RCV000157370|RCV000766480|RCV001238992|RCV003362671; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111350928 | 111350928 | | | 12:g.111350928G>A | ClinGen:CA010229 | C0878544 Cardiomyopathy; | |
NM_000432.4(MYL2):c.374C>A (p.Thr125Lys) | 4633 | MYL2 | Uncertain significance | 375667565 | RCV000639676; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350928 | 111350928 | | | NC_000012.11:g.111350928G>T | ClinGen:CA386697753 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.369G>A (p.Leu123=) | 4633 | MYL2 | Likely benign | 2136770430 | RCV001446006; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350933 | 111350933 | | | 111350933 | - | | |
NM_000432.4(MYL2):c.367C>T (p.Leu123=) | 4633 | MYL2 | Likely benign | 2136770433 | RCV002130885; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350935 | 111350935 | | | 111350935 | - | | |
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 192057022 | RCV000030324|RCV000036398|RCV000228967|RCV000618181|RCV000994981|RCV001185060|RCV002482922; | N | MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet: | 12 | 111350943 | 111350943 | | | 12:g.111350943C>T | ClinGen:CA010211 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.359G>T (p.Arg120Leu) | 4633 | MYL2 | Uncertain significance | 192057022 | RCV001114909; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350943 | 111350943 | | | 12:g.111350943C>A | - | | |
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp) | 4633 | MYL2 | Uncertain significance | 397516404 | RCV000036397|RCV000770393|RCV001056367|RCV003133123; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111350944 | 111350944 | | | 12:g.111350944G>A | ClinGen:CA010200 | CN169374 not specified; | |
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) | 4633 | MYL2 | Uncertain significance | 397516404 | RCV000172053|RCV001063811|RCV001180082|RCV002484988|RCV003352788; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MedGe | 12 | 111350944 | 111350944 | | | 12:g.111350944G>C | ClinGen:CA010193 | CN517202 not provided; | |
NM_000432.4(MYL2):c.356T>A (p.Val119Asp) | 4633 | MYL2 | Uncertain significance | 2136770460 | RCV001952856; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350946 | 111350946 | | | 111350946 | - | | |
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 730880940 | RCV000216431|RCV000766479|RCV001170435|RCV001227375|RCV003298187; | N | MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111350947 | 111350947 | | | 12:g.111350947C>T | ClinGen:CA010182 | CN169374 not specified; | |
NM_000432.4(MYL2):c.354C>T (p.Tyr118=) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 750193844 | RCV001109258|RCV002339403; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111350948 | 111350948 | | | 12:g.111350948G>A | - | | |
NM_000432.4(MYL2):c.354-3C>G | 4633 | MYL2 | Uncertain significance | 758158083 | RCV000822431|RCV001766743; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111350951 | 111350951 | | | 12:g.111350951G>C | - | | |
NM_000432.4(MYL2):c.354-6C>T | 4633 | MYL2 | Likely benign | 977023771 | RCV001470990; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350954 | 111350954 | | | NC_000012.11:g.111350954G>A | ClinGen:CA16613667 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.354-6C>G | 4633 | MYL2 | Likely benign | 977023771 | RCV001713276|RCV002073345; | N | MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350954 | 111350954 | | | 111350954 | - | | |
NM_000432.4(MYL2):c.354-8C>A | 4633 | MYL2 | Likely benign | 767657562 | RCV001427495; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350956 | 111350956 | | | 111350956 | - | | |
NM_000432.4(MYL2):c.354-17C>G | 4633 | MYL2 | Likely benign | 2136770510 | RCV002167503; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350965 | 111350965 | | | 111350965 | - | | |
NM_000432.4(MYL2):c.354-18G>A | 4633 | MYL2 | Benign/Likely benign | 752927354 | RCV001694431|RCV002073224; | N | MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350966 | 111350966 | | | 111350966 | - | | |
NM_000432.4(MYL2):c.354-20C>G | 4633 | MYL2 | Likely benign | 376261948 | RCV002207031; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111350968 | 111350968 | | | 111350968 | - | | |
NM_000432.4(MYL2):c.353+21A>C | 4633 | MYL2 | Likely benign | 2136770699 | RCV002145385; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351029 | 111351029 | | | 111351029 | - | | |
NM_000432.4(MYL2):c.353+20del | 4633 | MYL2 | Benign | 3833910 | RCV000024463|RCV000222305|RCV000610862|RCV001778662|RCV003125837; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|Human Phenotype Ontology:HP:0001635,Human Phenotype Ontology:HP:0006686,MONDO:MONDO:0005009,MedGen:C0018802 | 12 | 111351030 | 111351030 | | | 12:g.111351030_111351030del | ClinGen:CA010148,Leiden Muscular Dystrophy (MYL2):MYL2_00016 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.353+19G>A | 4633 | MYL2 | Likely benign | -1 | RCV003078480; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351031 | 111351031 | | | NC_000012.11:g.111351031C>T | - | | |
NM_000432.4(MYL2):c.353+16G>A | 4633 | MYL2 | Benign/Likely benign | 572363699 | RCV000600454|RCV001701062; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374 | 12 | 111351034 | 111351034 | | | 12:g.111351034C>T | ClinGen:CA041861 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.353+16G>T | 4633 | MYL2 | Likely benign | 572363699 | RCV002007193; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351034 | 111351034 | | | 111351034 | - | | |
NM_000432.4(MYL2):c.353+12C>A | 4633 | MYL2 | Benign/Likely benign | 186323458 | RCV000036396|RCV001109259|RCV001636620; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900 | 12 | 111351038 | 111351038 | | | 12:g.111351038G>T | ClinGen:CA010139 | CN169374 not specified; | |
NM_000432.4(MYL2):c.353+9G>A | 4633 | MYL2 | Likely benign | 2136770734 | RCV002181407; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351041 | 111351041 | | | 111351041 | - | | |
NM_000432.4(MYL2):c.353+7G>A | 4633 | MYL2 | Likely benign | 764227154 | RCV000465883; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351043 | 111351043 | | | NC_000012.11:g.111351043C>T | ClinGen:CA042052 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.353+6T>A | 4633 | MYL2 | Uncertain significance | 372824804 | RCV000203063|RCV001181055; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351044 | 111351044 | | | 12:g.111351044A>T | ClinGen:CA042041 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.353+4A>C | 4633 | MYL2 | Uncertain significance | 757267554 | RCV001244522; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351046 | 111351046 | | | 12:g.111351046T>G | - | | |
NM_000432.4(MYL2):c.352dup (p.Tyr118fs) | 4633 | MYL2 | Uncertain significance | 2136770744 | RCV002017796; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351050 | 111351051 | | | 111351050 | - | | |
NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter) | 4633 | MYL2 | Uncertain significance | -1 | RCV003049937; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351054 | 111351055 | | | NC_000012.11:g.111351055_111351062dup | - | | |
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) | 4633 | MYL2 | Uncertain significance | 1566148270 | RCV000688527|RCV001190452|RCV001775958|RCV002334270; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202|MedGen:CN230736 | 12 | 111351056 | 111351056 | | | 12:g.111351056G>A | - | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.342G>A (p.Leu114=) | 4633 | MYL2 | Benign/Likely benign | 199572927 | RCV000036395|RCV000467703|RCV001170436|RCV002292460|RCV002453304; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MedGen:CN230736 | 12 | 111351061 | 111351061 | | | 12:g.111351061C>T | ClinGen:CA010126 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.325G>T (p.Glu109Ter) | 4633 | MYL2 | Uncertain significance | 2136770789 | RCV001944563; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351078 | 111351078 | | | 111351078 | - | | |
NM_000432.4(MYL2):c.322C>T (p.Pro108Ser) | 4633 | MYL2 | Uncertain significance | 1555257773 | RCV000546425; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351081 | 111351081 | | | NC_000012.11:g.111351081G>A | ClinGen:CA386697984 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.316_319del (p.Phe106fs) | 4633 | MYL2 | Uncertain significance | 2071666714 | RCV001972290; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351084 | 111351087 | | | 111351083 | - | | |
NM_000432.4(MYL2):c.315G>C (p.Val105=) | 4633 | MYL2 | Likely benign | 768415509 | RCV000417604|RCV001187664|RCV002062504; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351088 | 111351088 | | | 12:g.111351088C>G | ClinGen:CA041584 | CN169374 not specified; | |
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu) | 4633 | MYL2 | Uncertain significance | 199474811 | RCV000024461|RCV001852572; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351093 | 111351093 | | | 12:g.111351093T>C | ClinGen:CA010079,Leiden Muscular Dystrophy (MYL2):MYL2_00011 | CN517202 not provided; | |
NM_000432.4(MYL2):c.299_309del (p.Leu100fs) | 4633 | MYL2 | Uncertain significance | 2071666850 | RCV001187629|RCV001876197|RCV003284028; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111351094 | 111351104 | | | 12:g.111351094_111351104del | - | | |
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 547860537 | RCV000172054|RCV001086360|RCV001184261|RCV002321668; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736 | 12 | 111351095 | 111351095 | | | NC_000012.11:g.111351095A>C | ClinGen:CA010071 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.305C>T (p.Ala102Val) | 4633 | MYL2 | Uncertain significance | 2071666913 | RCV001059953|RCV002445313; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111351098 | 111351098 | | | 12:g.111351098G>A | - | | |
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr) | 4633 | MYL2 | Uncertain significance | 369868176 | RCV000770394|RCV002442576|RCV002536609; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351099 | 111351099 | | | NC_000012.11:g.111351099C>T | - | | |
NM_000432.4(MYL2):c.304G>T (p.Ala102Ser) | 4633 | MYL2 | Uncertain significance | 369868176 | RCV001805396|RCV002541429; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351099 | 111351099 | | | 111351099 | - | | |
NM_000432.4(MYL2):c.303C>T (p.Asn101=) | 4633 | MYL2 | Likely benign | 1317472220 | RCV001179256|RCV001443899|RCV002445422; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111351100 | 111351100 | | | 12:g.111351100G>A | - | | |
NM_000432.4(MYL2):c.302A>G (p.Asn101Ser) | 4633 | MYL2 | Uncertain significance | 886048960 | RCV000278835|RCV001181051; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351101 | 111351101 | | | 12:g.111351101T>C | ClinGen:CA10640938 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.300C>T (p.Leu100=) | 4633 | MYL2 | Likely benign | 1253123682 | RCV001421724; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351103 | 111351103 | | | 111351103 | - | | |
NM_000432.4(MYL2):c.298C>G (p.Leu100Val) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 573898913 | RCV001188416|RCV002068502; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351105 | 111351105 | | | 12:g.111351105G>C | - | | |
NM_000432.4(MYL2):c.295A>G (p.Ile99Val) | 4633 | MYL2 | Uncertain significance | 2136770879 | RCV001917385; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351108 | 111351108 | | | 111351108 | - | | |
NM_000432.4(MYL2):c.290A>T (p.Glu97Val) | 4633 | MYL2 | Uncertain significance | 2136770896 | RCV001877831; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351113 | 111351113 | | | 111351113 | - | | |
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys) | 4633 | MYL2 | Uncertain significance | 1555257777 | RCV000531533|RCV002438360; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111351114 | 111351114 | | | NC_000012.11:g.111351114C>T | ClinGen:CA386698121 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.285T>G (p.Pro95=) | 4633 | MYL2 | Likely benign | 1592799785 | RCV001398444; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351118 | 111351118 | | | 111351118 | - | | |
NM_000432.4(MYL2):c.284C>T (p.Pro95Leu) | 4633 | MYL2 | Uncertain significance | -1 | RCV002806850; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351119 | 111351119 | | | NC_000012.11:g.111351119G>A | - | | |
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala) | 4633 | MYL2 | Pathogenic | 121913658 | RCV000015110; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351120 | 111351120 | | | 12:g.111351120G>C | ClinGen:CA010047,Leiden Muscular Dystrophy (MYL2):MYL2_00007,UniProtKB:P10916#VAR_004605,OMIM:160781.0003 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.283C>T (p.Pro95Ser) | 4633 | MYL2 | Uncertain significance | 121913658 | RCV001887426; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351120 | 111351120 | | | 111351120 | - | | |
NM_000432.4(MYL2):c.279G>A (p.Ala93=) | 4633 | MYL2 | Benign/Likely benign | 28645088 | RCV000151361|RCV000253500|RCV000471087|RCV000770395; | N | MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351124 | 111351124 | | | 12:g.111351124C>T | ClinGen:CA010036 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.278C>T (p.Ala93Val) | 4633 | MYL2 | Uncertain significance | 774193307 | RCV000639679; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351125 | 111351125 | | | 12:g.111351125G>A | ClinGen:CA041332 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu) | 4633 | MYL2 | Uncertain significance | 774193307 | RCV001063816|RCV001195235|RCV001760032; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 | 12 | 111351125 | 111351125 | | | 12:g.111351125G>T | - | | |
NM_000432.4(MYL2):c.275G>T (p.Gly92Val) | 4633 | MYL2 | Uncertain significance | 727503297 | RCV000151362|RCV002516041; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351128 | 111351128 | | | 12:g.111351128C>A | ClinGen:CA010026 | C0949658 Primary familial hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu) | 4633 | MYL2 | Uncertain significance | 727503297 | RCV001799465|RCV002304238|RCV002440882; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111351128 | 111351128 | | | 111351128 | - | | |
NM_000432.4(MYL2):c.275-2A>G | 4633 | MYL2 | Uncertain significance | 112557362 | RCV001804672|RCV001869529; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351130 | 111351130 | | | 111351130 | - | | |
NM_000432.4(MYL2):c.275-7G>A | 4633 | MYL2 | Benign/Likely benign | 373241541 | RCV000438240|RCV000474463|RCV001170437; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351135 | 111351135 | | | 12:g.111351135C>T | ClinGen:CA041297 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.275-8C>A | 4633 | MYL2 | Uncertain significance | 765328765 | RCV000639681; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351136 | 111351136 | | | 12:g.111351136G>T | ClinGen:CA658797957 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.275-8C>T | 4633 | MYL2 | Likely benign | 765328765 | RCV000827559|RCV001078614|RCV001186858; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351136 | 111351136 | | | 12:g.111351136G>A | - | | |
NM_000432.4(MYL2):c.275-12G>A | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 750937792 | RCV000338600|RCV000427131|RCV001181529; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351140 | 111351140 | | | 12:g.111351140C>T | ClinGen:CA041181 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.275-14G>C | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 375703502 | RCV000213783|RCV001182742|RCV002054960; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351142 | 111351142 | | | 12:g.111351142C>G | ClinGen:CA041202 | CN169374 not specified; | |
NM_000432.4(MYL2):c.275-19G>A | 4633 | MYL2 | Likely benign | -1 | RCV002595358; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351147 | 111351147 | | | NC_000012.11:g.111351147C>T | - | | |
NM_000432.4(MYL2):c.274+16_274+17insTC | 4633 | MYL2 | Benign | 200007468 | RCV000158903|RCV000625483|RCV001174735|RCV001529455; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:C3661900 | 12 | 111351973 | 111351974 | | | 12:g.111351973_111351974insAG | ClinGen:CA009979 | C0878544 Cardiomyopathy; | |
NM_000432.4(MYL2):c.274+11_274+12insGC | 4633 | MYL2 | Likely benign | -1 | RCV003067446; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351978 | 111351979 | | | NC_000012.11:g.111351979_111351980insGC | - | | |
NM_000432.4(MYL2):c.274+9G>A | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 371405579 | RCV000036390|RCV000392808|RCV000474766|RCV003149628; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111351981 | 111351981 | | | 12:g.111351981C>T | ClinGen:CA010014 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.274+8_274+9insAT | 4633 | MYL2 | Uncertain significance | 572538551 | RCV000457636; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351981 | 111351982 | | | NC_000012.11:g.111351981_111351982insAT | ClinGen:CA6788119 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.274+8C>T | 4633 | MYL2 | Likely benign | 397516400 | RCV000036389|RCV000872988; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351982 | 111351982 | | | 12:g.111351982G>A | ClinGen:CA010001 | CN169374 not specified; | |
NM_000432.4(MYL2):c.274+7T>C | 4633 | MYL2 | Likely benign | 771812779 | RCV002114501; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351983 | 111351983 | | | 111351983 | - | | |
NM_000432.4(MYL2):c.274+6G>T | 4633 | MYL2 | Uncertain significance | 776878088 | RCV000770396|RCV001855727; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351984 | 111351984 | | | NC_000012.11:g.111351984C>A | - | | |
NM_000432.4(MYL2):c.274+4A>G | 4633 | MYL2 | Uncertain significance | 2136772104 | RCV001942595; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351986 | 111351986 | | | 111351986 | - | | |
NM_000432.4(MYL2):c.274G>A (p.Gly92Arg) | 4633 | MYL2 | Uncertain significance | 1358384301 | RCV001933956; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111351990 | 111351990 | | | 111351990 | - | | |
NM_000432.4(MYL2):c.264G>A (p.Glu88=) | 4633 | MYL2 | Likely benign | 1187321974 | RCV001492018; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352000 | 111352000 | | | 111352000 | - | | |
NM_000432.4(MYL2):c.263A>C (p.Glu88Ala) | 4633 | MYL2 | Uncertain significance | -1 | RCV002856950; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352001 | 111352001 | | | NC_000012.11:g.111352001T>G | - | | |
NM_000432.4(MYL2):c.260G>A (p.Gly87Glu) | 4633 | MYL2 | Uncertain significance | 397516399 | RCV000692199|RCV001538762|RCV002424631; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN230736 | 12 | 111352004 | 111352004 | | | 12:g.111352004C>T | - | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.259G>A (p.Gly87Arg) | 4633 | MYL2 | Uncertain significance | 2136772130 | RCV001822034|RCV001885309; | N | MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352005 | 111352005 | | | 111352005 | - | | |
NM_000432.4(MYL2):c.259G>C (p.Gly87Arg) | 4633 | MYL2 | Uncertain significance | -1 | RCV002913647; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352005 | 111352005 | | | NC_000012.11:g.111352005C>G | - | | |
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser) | 4633 | MYL2 | Uncertain significance | 730880950 | RCV000158925|RCV001180080|RCV001370474|RCV002247553|RCV002426780; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736 | 12 | 111352007 | 111352007 | | | 12:g.111352007A>G | ClinGen:CA009962 | CN517202 not provided; | |
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu) | 4633 | MYL2 | Uncertain significance | 765287559 | RCV000822404|RCV002223255|RCV002427065; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN230736 | 12 | 111352008 | 111352008 | | | 12:g.111352008A>G | - | | |
NM_000432.4(MYL2):c.255G>A (p.Met85Ile) | 4633 | MYL2 | Uncertain significance | 1385880379 | RCV001239501|RCV002451582; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111352009 | 111352009 | | | 12:g.111352009C>T | - | | |
NM_000432.4(MYL2):c.254T>C (p.Met85Thr) | 4633 | MYL2 | Uncertain significance | 1592800278 | RCV000821299; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352010 | 111352010 | | | 12:g.111352010A>G | - | | |
NM_000432.4(MYL2):c.253A>G (p.Met85Val) | 4633 | MYL2 | Uncertain significance | 1592800281 | RCV000798623|RCV003344054; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111352011 | 111352011 | | | 12:g.111352011T>C | - | | |
NM_000432.4(MYL2):c.249C>T (p.Leu83=) | 4633 | MYL2 | Likely benign | 1240275237 | RCV001505720; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352015 | 111352015 | | | 111352015 | - | | |
NM_000432.4(MYL2):c.247C>G (p.Leu83Val) | 4633 | MYL2 | Uncertain significance | 2071673990 | RCV001057148; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352017 | 111352017 | | | 12:g.111352017G>C | - | | |
NM_000432.4(MYL2):c.243G>T (p.Val81=) | 4633 | MYL2 | Benign/Likely benign | 368851472 | RCV000036386|RCV000552836|RCV000619440|RCV000769366|RCV001642555; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900 | 12 | 111352021 | 111352021 | | | 12:g.111352021C>A | ClinGen:CA009955 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.240del (p.Val81fs) | 4633 | MYL2 | Uncertain significance | 2071674087 | RCV001345783; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352024 | 111352024 | | | 111352023 | - | | |
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) | 4633 | MYL2 | Pathogenic/Likely pathogenic | 587782965 | RCV000143928|RCV000542482|RCV000844710; | N | MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569 | 12 | 111352025 | 111352025 | | | 12:g.111352025G>T | ClinGen:CA009949 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.232A>G (p.Asn78Asp) | 4633 | MYL2 | Uncertain significance | 2136772211 | RCV001359060|RCV001776218; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900 | 12 | 111352032 | 111352032 | | | 111352032 | - | | |
NM_000432.4(MYL2):c.229A>G (p.Ile77Val) | 4633 | MYL2 | Uncertain significance | 373475989 | RCV000639680|RCV002424423; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111352035 | 111352035 | | | NC_000012.11:g.111352035T>C | ClinGen:CA040848 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.222G>A (p.Pro74=) | 4633 | MYL2 | Likely benign | 372644111 | RCV000443467|RCV000607532|RCV001191580|RCV001700368|RCV002429358; | N | MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736 | 12 | 111352042 | 111352042 | | | 12:g.111352042C>T | ClinGen:CA040809 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.221C>T (p.Pro74Leu) | 4633 | MYL2 | Uncertain significance | 942467544 | RCV001176400|RCV001875812; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352043 | 111352043 | | | 12:g.111352043G>A | - | | |
NM_000432.4(MYL2):c.221C>G (p.Pro74Arg) | 4633 | MYL2 | Uncertain significance | -1 | RCV002766819; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352043 | 111352043 | | | NC_000012.11:g.111352043G>C | - | | |
NM_000432.4(MYL2):c.218C>A (p.Ala73Asp) | 4633 | MYL2 | Uncertain significance | 2136772253 | RCV001910476; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352046 | 111352046 | | | 111352046 | - | | |
NM_000432.4(MYL2):c.217G>T (p.Ala73Ser) | 4633 | MYL2 | Uncertain significance | 2136772254 | RCV002049589; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352047 | 111352047 | | | 111352047 | - | | |
NM_000432.4(MYL2):c.216G>A (p.Glu72=) | 4633 | MYL2 | Likely benign | 376506450 | RCV000527877|RCV001182236|RCV002420421; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736 | 12 | 111352048 | 111352048 | | | 12:g.111352048C>T | ClinGen:CA040768 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.212A>T (p.Lys71Met) | 4633 | MYL2 | Uncertain significance | 2136772274 | RCV002014353; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352052 | 111352052 | | | 111352052 | - | | |
NM_000432.4(MYL2):c.207G>T (p.Met69Ile) | 4633 | MYL2 | Uncertain significance | 866041854 | RCV000554010; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352057 | 111352057 | | | 12:g.111352057C>A | ClinGen:CA386698784 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.206T>C (p.Met69Thr) | 4633 | MYL2 | Uncertain significance | 2071674449 | RCV001191590|RCV001876239|RCV002484051; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424 | 12 | 111352058 | 111352058 | | | 12:g.111352058A>G | - | | |
NM_000432.4(MYL2):c.205A>C (p.Met69Leu) | 4633 | MYL2 | Uncertain significance | 2136772287 | RCV002273281; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352059 | 111352059 | | | 111352059 | - | | |
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly) | 4633 | MYL2 | Uncertain significance | 752456288 | RCV000687538|RCV002485609|RCV002544780; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MeSH:D030342,MedGen:C0950123 | 12 | 111352061 | 111352061 | | | 12:g.111352061T>C | - | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.197_203del (p.Ile66fs) | 4633 | MYL2 | Uncertain significance | 2136772297 | RCV002027195; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352061 | 111352067 | | | 111352060 | - | | |
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 397516398 | RCV000626688|RCV001588846|RCV002513380; | N | Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352071 | 111352071 | | | 12:g.111352071C>T | ClinGen:CA009936 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.188del (p.Asn63fs) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 1177936172 | RCV001191866|RCV001211451|RCV001567726|RCV002411721|RCV003396801; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374 | 12 | 111352076 | 111352076 | | | 12:g.111352076_111352076del | - | | |
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 201728041 | RCV000151365|RCV000198198|RCV000766353|RCV001177585; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111352080 | 111352080 | | | 12:g.111352080T>A | ClinGen:CA009930 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.183G>A (p.Val61=) | 4633 | MYL2 | Likely benign | 933908830 | RCV002192759; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352081 | 111352081 | | | 111352081 | - | | |
NM_000432.4(MYL2):c.181G>A (p.Val61Met) | 4633 | MYL2 | Uncertain significance | 730880949 | RCV000158924|RCV001241595|RCV001524471; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111352083 | 111352083 | | | NC_000012.11:g.111352083C>T | ClinGen:CA009922 | CN169374 not specified; | |
NM_000432.4(MYL2):c.181G>C (p.Val61Leu) | 4633 | MYL2 | Uncertain significance | 730880949 | RCV001193581|RCV002559224; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352083 | 111352083 | | | 12:g.111352083C>G | - | | |
NM_000432.4(MYL2):c.175G>A (p.Val59Met) | 4633 | MYL2 | Uncertain significance | 2071674789 | RCV001049441; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352089 | 111352089 | | | 12:g.111352089C>T | - | | |
NM_000432.4(MYL2):c.174A>G (p.Arg58=) | 4633 | MYL2 | Likely benign | 777225996 | RCV001179480|RCV002068244; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352090 | 111352090 | | | 12:g.111352090T>C | - | | |
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) | 4633 | MYL2 | Pathogenic | 104894369 | RCV000015111|RCV000158923|RCV000157369|RCV000621867|RCV000844711|RCV001798005; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN230736|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217 | 12 | 111352091 | 111352091 | | | 12:g.111352091C>T | ClinGen:CA009915,Leiden Muscular Dystrophy (MYL2):MYL2_00005,UniProtKB:P10916#VAR_004604,OMIM:160781.0004 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.173G>T (p.Arg58Leu) | 4633 | MYL2 | Likely pathogenic | 104894369 | RCV000639677|RCV001575874; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900 | 12 | 111352091 | 111352091 | | | 12:g.111352091C>A | ClinGen:CA386698863 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.172C>A (p.Arg58=) | 4633 | MYL2 | Likely benign | 756671869 | RCV000866987|RCV001183865; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111352092 | 111352092 | | | 12:g.111352092G>T | - | | |
NM_000432.4(MYL2):c.172C>T (p.Arg58Ter) | 4633 | MYL2 | Uncertain significance | 756671869 | RCV001903576; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352092 | 111352092 | | | 111352092 | - | | |
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) | 4633 | MYL2 | Uncertain significance | 199474809 | RCV000036384|RCV000119378|RCV000620413|RCV000819932|RCV001187128; | N | MedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111352094 | 111352094 | | | 12:g.111352094C>T | ClinGen:CA009910 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.170-1G>A | 4633 | MYL2 | Uncertain significance | 1566148738 | RCV001052699|RCV002400306; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111352095 | 111352095 | | | 12:g.111352095C>T | - | | |
NM_000432.4(MYL2):c.170-20GT[3] | 4633 | MYL2 | Likely benign | 764824483 | RCV001181554|RCV001697966|RCV002063976; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352107 | 111352108 | | | 12:g.111352107_111352108del | ClinGen:CA040311 | CN169374 not specified; | |
NM_000432.4(MYL2):c.170-14G>C | 4633 | MYL2 | Likely benign | 371431719 | RCV001183080|RCV002559818; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352108 | 111352108 | | | 12:g.111352108C>G | - | | |
NM_000432.4(MYL2):c.170-17T>C | 4633 | MYL2 | Likely benign | 1453191107 | RCV002124078; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111352111 | 111352111 | | | 111352111 | - | | |
NM_000432.4(MYL2):c.170-19T>C | 4633 | MYL2 | Benign | 115522476 | RCV000030321|RCV000612374|RCV000852686|RCV001650850|RCV003125845; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, | 12 | 111352113 | 111352113 | | | 12:g.111352113A>G | ClinGen:CA009904 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.169+18G>C | 4633 | MYL2 | Likely benign | 375152116 | RCV002197209; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353501 | 111353501 | | | 111353501 | - | | |
NM_000432.4(MYL2):c.169+13C>T | 4633 | MYL2 | Likely benign | 367740411 | RCV002094188|RCV003126171; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569 | 12 | 111353506 | 111353506 | | | 111353506 | - | | |
NM_000432.4(MYL2):c.166_169+13del | 4633 | MYL2 | Uncertain significance | -1 | RCV003072158; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353506 | 111353522 | | | NC_000012.11:g.111353507_111353523del | - | | |
NM_000432.4(MYL2):c.169+7C>T | 4633 | MYL2 | Likely benign | 371784522 | RCV000862949; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353512 | 111353512 | | | 12:g.111353512G>A | - | | |
NM_000432.4(MYL2):c.169+3A>T | 4633 | MYL2 | Uncertain significance | -1 | RCV002829411; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353516 | 111353516 | | | NC_000012.11:g.111353516T>A | - | | |
NM_000432.4(MYL2):c.169G>A (p.Gly57Arg) | 4633 | MYL2 | Uncertain significance | 2428140 | RCV001308163; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353519 | 111353519 | | | 111353519 | - | | |
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 727504425 | RCV000154622|RCV000489222|RCV001297385|RCV002399541; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111353525 | 111353525 | | | 12:g.111353525C>A | ClinGen:CA009898 | CN517202 not provided; | |
NM_000432.4(MYL2):c.163G>C (p.Ala55Pro) | 4633 | MYL2 | Likely pathogenic | 727504425 | RCV000988908; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353525 | 111353525 | | | 12:g.111353525C>G | - | | |
NM_000432.4(MYL2):c.161C>T (p.Ala54Val) | 4633 | MYL2 | Uncertain significance | 2136773989 | RCV001805350|RCV001869536; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353527 | 111353527 | | | 111353527 | - | | |
NM_000432.4(MYL2):c.160G>T (p.Ala54Ser) | 4633 | MYL2 | Uncertain significance | 1171745073 | RCV001973723; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353528 | 111353528 | | | 111353528 | - | | |
NM_000432.4(MYL2):c.160G>A (p.Ala54Thr) | 4633 | MYL2 | Uncertain significance | -1 | RCV003092373; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353528 | 111353528 | | | NC_000012.11:g.111353528C>T | - | | |
NM_000432.4(MYL2):c.156C>A (p.Thr52=) | 4633 | MYL2 | Likely benign | 761358011 | RCV000774111|RCV000867120|RCV002397541; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111353532 | 111353532 | | | NC_000012.11:g.111353532G>T | - | | |
NM_000432.4(MYL2):c.147G>A (p.Leu49=) | 4633 | MYL2 | Likely benign | 749936467 | RCV001177368|RCV001416131; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353541 | 111353541 | | | NC_000012.11:g.111353541C>T | ClinGen:CA040111 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr) | 4633 | MYL2 | Uncertain significance | 727504405 | RCV000154586|RCV001350528; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353546 | 111353546 | | | 12:g.111353546C>A | ClinGen:CA009885 | CN169374 not specified; | |
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) | 4633 | MYL2 | Uncertain significance | 727504405 | RCV000810331|RCV000852439|RCV002507408; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353546 | 111353546 | | | 12:g.111353546C>T | - | | |
NM_000432.4(MYL2):c.141C>T (p.Asn47=) | 4633 | MYL2 | Likely benign | 199474808 | RCV000036382|RCV000538837|RCV002390143; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111353547 | 111353547 | | | 12:g.111353547G>A | ClinGen:CA009880 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.138G>A (p.Lys46=) | 4633 | MYL2 | Likely benign | 1267967428 | RCV002109078|RCV003307997; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111353550 | 111353550 | | | 111353550 | - | | |
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu) | 4633 | MYL2 | Uncertain significance | 199474807 | RCV002013213; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353553 | 111353553 | | | 111353553 | - | | |
NM_000432.4(MYL2):c.133G>A (p.Asp45Asn) | 4633 | MYL2 | Uncertain significance | 1363460648 | RCV001907114; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353555 | 111353555 | | | 111353555 | - | | |
NM_000432.4(MYL2):c.132T>C (p.Ile44=) | 4633 | MYL2 | Benign | 2301610 | RCV000024462|RCV000036380|RCV000251488|RCV000599777|RCV000776005|RCV003125836; | N | MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|Human Phenotype Ontology:HP:0001635,Human Phenotype Ontology:HP:00066 | 12 | 111353556 | 111353556 | | | 12:g.111353556A>G | ClinGen:CA009859,Leiden Muscular Dystrophy (MYL2):MYL2_00015 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 863225117 | RCV000201445|RCV001178807|RCV002426954; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736 | 12 | 111353563 | 111353563 | | | NC_000012.11:g.111353563C>T | ClinGen:CA279277 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.120G>A (p.Arg40=) | 4633 | MYL2 | Likely benign | 571489007 | RCV001476188; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353568 | 111353568 | | | 111353568 | - | | |
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) | 4633 | MYL2 | Uncertain significance | 727503299 | RCV000151367|RCV000464490|RCV000624062|RCV000766478|RCV001293059|RCV002345474; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN517202|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217 | 12 | 111353569 | 111353569 | | | 12:g.111353569C>T | ClinGen:CA009847 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.119G>T (p.Arg40Met) | 4633 | MYL2 | Uncertain significance | 727503299 | RCV000155752|RCV000463477; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353569 | 111353569 | | | 12:g.111353569C>A | ClinGen:CA009851 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.119G>C (p.Arg40Thr) | 4633 | MYL2 | Uncertain significance | 727503299 | RCV001337424; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353569 | 111353569 | | | 111353569 | - | | |
NM_000432.4(MYL2):c.103A>G (p.Ile35Val) | 4633 | MYL2 | Uncertain significance | 730880946 | RCV001219554|RCV002390384; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111353585 | 111353585 | | | 12:g.111353585T>C | - | | |
NM_000432.4(MYL2):c.101C>A (p.Thr34Asn) | 4633 | MYL2 | Uncertain significance | -1 | RCV003051522; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353587 | 111353587 | | | NC_000012.11:g.111353587G>T | - | | |
NM_000432.4(MYL2):c.99C>T (p.Phe33=) | 4633 | MYL2 | Likely benign | 2136774131 | RCV002173743; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353589 | 111353589 | | | 111353589 | - | | |
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu) | 4633 | MYL2 | Uncertain significance | 730880945 | RCV000158916|RCV000537629|RCV001186245|RCV002505191|RCV003352786; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MedGe | 12 | 111353591 | 111353591 | | | 12:g.111353591A>G | ClinGen:CA010549 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.94-1G>C | 4633 | MYL2 | Uncertain significance | -1 | RCV003009745; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353595 | 111353595 | | | NC_000012.11:g.111353595C>G | - | | |
NM_000432.4(MYL2):c.94-3C>T | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 112865045 | RCV000769368|RCV001373378; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353597 | 111353597 | | | NC_000012.11:g.111353597G>A | - | | |
NM_000432.4(MYL2):c.94-9C>T | 4633 | MYL2 | Likely benign | 1476443487 | RCV000559322; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353603 | 111353603 | | | NC_000012.11:g.111353603G>A | ClinGen:CA607330210 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.94-15A>C | 4633 | MYL2 | Likely benign | 1202280683 | RCV002117320; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353609 | 111353609 | | | 111353609 | - | | |
NM_000432.4(MYL2):c.94-16C>G | 4633 | MYL2 | Likely benign | 745969429 | RCV002119643; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353610 | 111353610 | | | 111353610 | - | | |
NM_000432.4(MYL2):c.94-17T>C | 4633 | MYL2 | Likely benign | -1 | RCV003053792; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353611 | 111353611 | | | NC_000012.11:g.111353611A>G | - | | |
NM_000432.4(MYL2):c.94-19A>G | 4633 | MYL2 | Likely benign | 921973455 | RCV001962618; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111353613 | 111353613 | | | 111353613 | - | | |
NC_000012.11:g.(?_111356888)_(111358333_?)del | 4633 | MYL2 | Uncertain significance | -1 | RCV003111223; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356888 | 111358333 | | | | - | | |
NM_000432.4(MYL2):c.93+15T>C | 4633 | MYL2 | Likely benign | 754871718 | RCV002098471; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356893 | 111356893 | | | 111356893 | - | | |
NM_000432.4(MYL2):c.93+11C>G | 4633 | MYL2 | Uncertain significance | 1217072106 | RCV002050109; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356897 | 111356897 | | | 111356897 | - | | |
NM_000432.4(MYL2):c.93+9A>G | 4633 | MYL2 | Likely benign | 201580029 | RCV002122353; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356899 | 111356899 | | | 111356899 | - | | |
NM_000432.4(MYL2):c.93+4G>A | 4633 | MYL2 | Uncertain significance | 1452586267 | RCV002043613; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356904 | 111356904 | | | 111356904 | - | | |
NM_000432.4(MYL2):c.93+1G>A | 4633 | MYL2 | Uncertain significance | 2071703627 | RCV001950506; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356907 | 111356907 | | | 111356907 | - | | |
NM_000432.4(MYL2):c.92A>G (p.Glu31Gly) | 4633 | MYL2 | Uncertain significance | 2136777256 | RCV001901581; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356909 | 111356909 | | | 111356909 | - | | |
NM_000432.4(MYL2):c.83A>G (p.Glu28Gly) | 4633 | MYL2 | Uncertain significance | 2071703750 | RCV001052552; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356918 | 111356918 | | | 12:g.111356918T>C | - | | |
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 397516408 | RCV000036410|RCV000845333|RCV001852758; | N | Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356921 | 111356921 | | | 12:g.111356921T>C | ClinGen:CA010526 | C0949658 Primary familial hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.78C>T (p.Ile26=) | 4633 | MYL2 | Likely benign | 755926255 | RCV000774468|RCV002067298; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356923 | 111356923 | | | NC_000012.11:g.111356923G>A | - | | |
NM_000432.4(MYL2):c.72C>G (p.Thr24=) | 4633 | MYL2 | Likely benign | 2136777292 | RCV001438252|RCV003160754; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111356929 | 111356929 | | | 111356929 | - | | |
NM_000432.4(MYL2):c.71C>T (p.Thr24Ile) | 4633 | MYL2 | Uncertain significance | 2136777298 | RCV002021901; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356930 | 111356930 | | | 111356930 | - | | |
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) | 4633 | MYL2 | Pathogenic/Likely pathogenic | 104894368 | RCV000015109|RCV000158914|RCV000234985|RCV000768488|RCV001170438|RCV002354163|RCV003421920; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900|Human Phenotype Ontology:HP:0100613,MedGen:C4022012|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|Human Phenotype Ontology:HP:0001638, | 12 | 111356937 | 111356937 | | | 12:g.111356937C>T | ClinGen:CA010513,Leiden Muscular Dystrophy (MYL2):MYL2_00003,UniProtKB:P10916#VAR_004603,OMIM:160781.0002 | C4022012 Death in early adulthood; | |
NM_000432.4(MYL2):c.63C>T (p.Phe21=) | 4633 | MYL2 | Likely benign | 779983470 | RCV000769371|RCV000920247|RCV003166031; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111356938 | 111356938 | | | NC_000012.11:g.111356938G>A | - | | |
NM_000432.4(MYL2):c.51_61del (p.Phe18fs) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 754744244 | RCV001214509|RCV001780132; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111356940 | 111356950 | | | 12:g.111356940_111356950del | - | | |
NM_000432.4(MYL2):c.59T>A (p.Met20Lys) | 4633 | MYL2 | Uncertain significance | 113167834 | RCV000508032|RCV001321322; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356942 | 111356942 | | | NC_000012.11:g.111356942A>T | ClinGen:CA043481 | CN169374 not specified; | |
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys) | 4633 | MYL2 | Uncertain significance | 2071704028 | RCV001185608|RCV001317123; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356945 | 111356945 | | | 12:g.111356945G>C | - | | |
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 730880944 | RCV000158913|RCV000852440|RCV001850228|RCV002516393; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MeSH:D030342,MedGen:C0950123 | 12 | 111356948 | 111356948 | | | 12:g.111356948A>G | ClinGen:CA010495 | CN517202 not provided; | |
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) | 4633 | MYL2 | Pathogenic/Likely pathogenic | 104894370 | RCV000015112|RCV000246859|RCV002247340|RCV002504789; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356949 | 111356949 | | | 12:g.111356949A>G | ClinGen:CA010488,Leiden Muscular Dystrophy (MYL2):MYL2_00002,UniProtKB:P10916#VAR_004602,OMIM:160781.0005 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.50T>C (p.Val17Ala) | 4633 | MYL2 | Uncertain significance | 2136777356 | RCV001881856|RCV002478254|RCV003348575; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111356951 | 111356951 | | | 111356951 | - | | |
NM_000432.4(MYL2):c.50del (p.Val17fs) | 4633 | MYL2 | Uncertain significance | -1 | RCV002862305; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356951 | 111356951 | | | NC_000012.11:g.111356951del | - | | |
NM_000432.4(MYL2):c.49G>A (p.Val17Met) | 4633 | MYL2 | Uncertain significance | 730880943 | RCV000158912|RCV000241994|RCV000470133|RCV001181615|RCV002484987; | N | MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,O | 12 | 111356952 | 111356952 | | | 12:g.111356952C>T | ClinGen:CA010480 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.48C>T (p.Asn16=) | 4633 | MYL2 | Likely benign | 552004172 | RCV001446924|RCV001806183|RCV002341987; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736 | 12 | 111356953 | 111356953 | | | 111356953 | - | | |
NM_000432.4(MYL2):c.47A>G (p.Asn16Ser) | 4633 | MYL2 | Uncertain significance | 2071704153 | RCV001316404|RCV001760386; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202 | 12 | 111356954 | 111356954 | | | 111356954 | - | | |
NM_000432.4(MYL2):c.46A>G (p.Asn16Asp) | 4633 | MYL2 | Uncertain significance | 2136777385 | RCV001988420; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356955 | 111356955 | | | 111356955 | - | | |
NM_000432.4(MYL2):c.42C>T (p.Asn14=) | 4633 | MYL2 | Likely benign | 878853980 | RCV001189726|RCV001455463|RCV002327108; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111356959 | 111356959 | | | 12:g.111356959G>A | ClinGen:CA10582959 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.42C>A (p.Asn14Lys) | 4633 | MYL2 | Uncertain significance | 878853980 | RCV000639674; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356959 | 111356959 | | | NC_000012.11:g.111356959G>T | ClinGen:CA386700300 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.41A>C (p.Asn14Thr) | 4633 | MYL2 | Uncertain significance | 2071704259 | RCV001109260; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356960 | 111356960 | | | 12:g.111356960T>G | - | | |
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 104894363 | RCV000015108|RCV000036401|RCV000148714|RCV000584799|RCV000620870|RCV000626337|RCV000766474|RCV000778905|RCV001184984; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN230736|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0 | 12 | 111356964 | 111356964 | | | 12:g.111356964C>T | ClinGen:CA010242,Leiden Muscular Dystrophy (MYL2):MYL2_00001,UniProtKB:P10916#VAR_004601,OMIM:160781.0001 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.36C>T (p.Gly12=) | 4633 | MYL2 | Benign/Likely benign | 139794370 | RCV000036399|RCV000457321|RCV000622196|RCV001178576|RCV001719731; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900 | 12 | 111356965 | 111356965 | | | 12:g.111356965G>A | ClinGen:CA010220 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.35G>A (p.Gly12Asp) | 4633 | MYL2 | Uncertain significance | 762584624 | RCV002048578; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356966 | 111356966 | | | 111356966 | - | | |
NM_000432.4(MYL2):c.34G>T (p.Gly12Cys) | 4633 | MYL2 | Uncertain significance | 730880937 | RCV000774463|RCV001208534; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356967 | 111356967 | | | NC_000012.11:g.111356967C>A | - | | |
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser) | 4633 | MYL2 | Uncertain significance | 730880937 | RCV001192326|RCV001859164; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356967 | 111356967 | | | 12:g.111356967C>T | - | | |
NM_000432.4(MYL2):c.33G>A (p.Gly11=) | 4633 | MYL2 | Benign/Likely benign | 199742269 | RCV000036394|RCV000457856|RCV000771886|RCV002453303; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736 | 12 | 111356968 | 111356968 | | | 12:g.111356968C>T | ClinGen:CA010120 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.30C>T (p.Ala10=) | 4633 | MYL2 | Likely benign | 752641375 | RCV000862280|RCV001452370; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356971 | 111356971 | | | 12:g.111356971G>A | - | | |
NM_000432.4(MYL2):c.30C>A (p.Ala10=) | 4633 | MYL2 | Likely benign | 752641375 | RCV002084783; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356971 | 111356971 | | | 111356971 | - | | |
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr) | 4633 | MYL2 | Uncertain significance | 730880942 | RCV000158910|RCV000794360|RCV001185249; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848 | 12 | 111356973 | 111356973 | | | 12:g.111356973C>T | ClinGen:CA010053 | CN169374 not specified; | |
NM_000432.4(MYL2):c.28G>C (p.Ala10Pro) | 4633 | MYL2 | Uncertain significance | 730880942 | RCV001969620; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356973 | 111356973 | | | 111356973 | - | | |
NM_000432.4(MYL2):c.26G>A (p.Arg9Lys) | 4633 | MYL2 | Uncertain significance | 2071704532 | RCV001878291; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356975 | 111356975 | | | 111356975 | - | | |
NM_000432.4(MYL2):c.18A>G (p.Ala6=) | 4633 | MYL2 | Likely benign | -1 | RCV003167580|RCV002675605; | N | MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356983 | 111356983 | | | | - | | |
NM_000432.4(MYL2):c.14A>G (p.Lys5Arg) | 4633 | MYL2 | Uncertain significance | 730880941 | RCV000158909|RCV000816711; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356987 | 111356987 | | | 12:g.111356987T>C | ClinGen:CA009892 | CN169374 not specified; | |
NM_000432.4(MYL2):c.6del (p.Pro3fs) | 4633 | MYL2 | Uncertain significance | 1085307533 | RCV000490156|RCV000798438; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356995 | 111356995 | | | NC_000012.11:g.111356995del | ClinGen:CA645293885 | CN169374 not specified; | |
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) | 4633 | MYL2 | Uncertain significance | 1060499882 | RCV000455015|RCV000618317|RCV000692892; | N | MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356997 | 111356997 | | | 12:g.111356997C>T | ClinGen:CA16609759 | CN230736 Cardiovascular phenotype; | |
NM_000432.4(MYL2):c.4G>T (p.Ala2Ser) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 1060499882 | RCV001191495|RCV001363795; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111356997 | 111356997 | | | 12:g.111356997C>A | - | | |
NM_000432.4(MYL2):c.4-5C>T | 4633 | MYL2 | Likely benign | 374870836 | RCV001411676; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357002 | 111357002 | | | NC_000012.11:g.111357002G>A | ClinGen:CA16613729 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.4-5C>G | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 374870836 | RCV001525538|RCV002568098; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357002 | 111357002 | | | 111357002 | - | | |
NM_000432.4(MYL2):c.4-6_4-5delinsTT | 4633 | MYL2 | Likely benign | 2136777520 | RCV002195394; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357002 | 111357003 | | | 111357002 | - | | |
NM_000432.4(MYL2):c.4-8T>C | 4633 | MYL2 | Likely benign | 750730703 | RCV001176617|RCV001391699; | N | Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357005 | 111357005 | | | NC_000012.11:g.111357005A>G | ClinGen:CA043408 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.4-8del | 4633 | MYL2 | Benign | -1 | RCV003067402; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357005 | 111357005 | | | NC_000012.11:g.111357010del | - | | |
NM_000432.4(MYL2):c.4-9T>C | 4633 | MYL2 | Likely benign | -1 | RCV002607062; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357006 | 111357006 | | | NC_000012.11:g.111357006A>G | - | | |
NM_000432.4(MYL2):c.4-14C>T | 4633 | MYL2 | Benign | 12301951 | RCV000036403|RCV000625191|RCV000771118|RCV001642556|RCV003125848; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|Human Phenotype Ontology:HP:0001635,Human Phenotype Ontology:HP:0006686,MONDO:MONDO:0 | 12 | 111357011 | 111357011 | | | 12:g.111357011G>A | ClinGen:CA010310 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.4-14del | 4633 | MYL2 | Benign | 531661702 | RCV000155660|RCV000158898|RCV001803091; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357011 | 111357011 | | | 12:g.111357011_111357011del | ClinGen:CA010318 | C0878544 Cardiomyopathy; | |
NM_000432.4(MYL2):c.4-18G>A | 4633 | MYL2 | Benign/Likely benign | 730880933 | RCV000158894|RCV002053908; | N | MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357015 | 111357015 | | | 12:g.111357015C>T | ClinGen:CA010327 | CN169374 not specified; | |
NM_000432.4(MYL2):c.4-19C>T | 4633 | MYL2 | Likely benign | 1566150502 | RCV002155431; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111357016 | 111357016 | | | 111357016 | - | | |
NM_000432.4(MYL2):c.3+20G>A | 4633 | MYL2 | Likely benign | -1 | RCV002623637; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358311 | 111358311 | | | NC_000012.11:g.111358311C>T | - | | |
NM_000432.4(MYL2):c.3+14C>T | 4633 | MYL2 | Likely benign | -1 | RCV002596285; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358317 | 111358317 | | | NC_000012.11:g.111358317G>A | - | | |
NM_000432.4(MYL2):c.3+13G>T | 4633 | MYL2 | Uncertain significance | 2136779321 | RCV001894047; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358318 | 111358318 | | | 111358318 | - | | |
NM_000432.4(MYL2):c.3+9A>G | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 201763406 | RCV000313911|RCV000461436; | N | Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358322 | 111358322 | | | 12:g.111358322T>C | ClinGen:CA042433 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.3+2T>C | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 111373423 | RCV000988909|RCV003458579; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758| | 12 | 111358329 | 111358329 | | | 12:g.111358329A>G | - | | |
NM_000432.4(MYL2):c.3+1G>T | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 730880948 | RCV000158921|RCV001342762|RCV003352787; | N | MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736 | 12 | 111358330 | 111358330 | | | 12:g.111358330C>A | ClinGen:CA010102 | CN517202 not provided; | |
NM_000432.4(MYL2):c.3G>A (p.Met1Ile) | 4633 | MYL2 | Conflicting interpretations of pathogenicity | 1555258369 | RCV000513098|RCV000639673; | N | MONDO:MONDO:0019150,MedGen:C5680139, Orphanet:75249|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358331 | 111358331 | | | 12:g.111358331C>T | ClinGen:CA386700390 | C1834460 608758 Familial hypertrophic cardiomyopathy 10; | |
NM_000432.4(MYL2):c.-12G>C | 4633 | MYL2 | Uncertain significance | 886048962 | RCV000363947; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358345 | 111358345 | | | 12:g.111358345C>G | ClinGen:CA10632046 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.4(MYL2):c.-28C>T | 4633 | MYL2 | Likely benign | 377590769 | RCV000396666; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358361 | 111358361 | | | 12:g.111358361G>A | ClinGen:CA041414 | C0007194 Hypertrophic cardiomyopathy; | |
NM_000432.3(MYL2):c.-62C>A | 4633 | MYL2 | Uncertain significance | 1251308670 | RCV001111588; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358395 | 111358395 | | | 12:g.111358395G>T | - | | |
NM_001406916.1(MYL2):c.-55+788T>C | 4633 | MYL2 | Uncertain significance | 941432618 | RCV001111589; | N | MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758 | 12 | 111358405 | 111358405 | | | | - | | |