MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1876
Name:Cardiomyopathy, Familial Hypertrophic, 10
Definition:
Alternative IDs:OMIM:608758
ParentIDs:MESH:D024741
TreeNumbers:C14.280.238.100.500/C563865 |C14.280.484.150.070.160.500/C563865 |C16.320.160/C563865
Synonyms:Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2 |CMH10
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)
Reference: MedGen: C563865
MeSH: C563865
OMIM: 608758;
MSeqDR LSDB:  
Genes: MYL2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001670Asymmetric septal hypertrophy
3 HP:0100749Chest pain
4 HP:0002094Dyspnea
NAMDC:  Chronic shortness of breath
5 HP:0005144Left ventricular septal hypertrophy
6 HP:0001962Palpitations
7 HP:0001645Sudden cardiac deathHP:0040283
8 HP:0004755Supraventricular tachycardiaHP:0040283
9 HP:0001663Ventricular fibrillationHP:0040283
10 HP:0004756Ventricular tachycardia
11 HP:0002321Vertigo
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000012.12:g.(?_110910819)_(110911175_?)del4633MYL2Pathogenic-1RCV000469216; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348623111348979-C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.*166G>A4633MYL2Uncertain significance376236989RCV001113490; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134871511134871512:g.111348715C>T-
NM_000432.4(MYL2):c.*102C>A4633MYL2Conflicting interpretations of pathogenicity542961456RCV000286639|RCV001672464; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C36619001211134877911134877912:g.111348779G>TClinGen:CA10632045C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.*84C>T4633MYL2Uncertain significance867853414RCV001114908|RCV002482211; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134879711134879712:g.111348797G>A-
NC_000012.11:g.(?_111348861)_(111348999_?)del4633MYL2Uncertain significance-1RCV001343350; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348861111348999-1-
NM_000432.4(MYL2):c.*10C>T4633MYL2Conflicting interpretations of pathogenicity193922452RCV000341584|RCV001696177|RCV003234928; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900|MedGen:CN1693741211134887111134887112:g.111348871G>AClinGen:CA009835C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.501G>A (p.Ter167=)4633MYL2Likely benign2136767524RCV002090285; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348881111348881111348881-
NC_000012.11:g.(?_111348881)_(111358333_?)del4633MYL2Uncertain significance-1RCV003111222; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348881111358333-
NC_000012.11:g.(?_111348881)_(111358333_?)dup4633MYL2Uncertain significance-1RCV003111224; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348881111358333-
NM_000432.4(MYL2):c.499T>G (p.Ter167Glu)4633MYL2Uncertain significance2071647433RCV001321375; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348883111348883111348883-
NM_000432.4(MYL2):c.497A>T (p.Asp166Val)4633MYL2Likely pathogenic199474815RCV000024460|RCV001852571; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134888511134888512:g.111348885T>AClinGen:CA010471,Leiden Muscular Dystrophy (MYL2):MYL2_00010,UniProtKB:P10916#VAR_019844CN517202 not provided;
NM_000432.4(MYL2):c.497A>C (p.Asp166Ala)4633MYL2Uncertain significance199474815RCV001209931; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134888511134888512:g.111348885T>G-
NM_000432.4(MYL2):c.496G>A (p.Asp166Asn)4633MYL2Uncertain significance730880952RCV001323928|RCV001751627; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN51720212111348886111348886111348886-
NM_000432.4(MYL2):c.496G>C (p.Asp166His)4633MYL2Uncertain significance730880952RCV002045135; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348886111348886111348886-
NM_000432.4(MYL2):c.493A>G (p.Lys165Glu)4633MYL2Uncertain significance-1RCV002832945; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348889111348889NC_000012.11:g.111348889T>C-
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)4633MYL2Uncertain significance-1RCV002297899|RCV002346586; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111348892111348892111348892-
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala)4633MYL2Conflicting interpretations of pathogenicity397516407RCV000036409|RCV000639678|RCV001193582; NHuman Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN1693741211134889411134889412:g.111348894T>GClinGen:CA010447C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly)4633MYL2Conflicting interpretations of pathogenicity397516407RCV000158908|RCV000223748|RCV002515080; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134889411134889412:g.111348894T>CClinGen:CA010454CN517202 not provided;
NM_000432.4(MYL2):c.487G>C (p.Glu163Gln)4633MYL2Uncertain significance1131692323RCV000496070; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348895111348895NC_000012.11:g.111348895C>GClinGen:CA386696711C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.487G>A (p.Glu163Lys)4633MYL2Uncertain significance1131692323RCV001359350; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348895111348895111348895-
NM_000432.4(MYL2):c.486A>C (p.Gly162=)4633MYL2Likely benign1177510197RCV001884180|RCV002334811; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111348896111348896111348896-
NM_000432.4(MYL2):c.486A>T (p.Gly162=)4633MYL2Likely benign-1RCV002824490; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348896111348896-
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)4633MYL2Conflicting interpretations of pathogenicity199474814RCV000119380|RCV000156897|RCV000226326|RCV000627045; NMedGen: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:1678481211134889811134889812:g.111348898C>TClinGen:CA010431C0878544 Cardiomyopathy;
NM_000432.4(MYL2):c.484G>T (p.Gly162Ter)4633MYL2Uncertain significance199474814RCV002033031; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348898111348898111348898-
NM_000432.4(MYL2):c.483C>A (p.His161Gln)4633MYL2Uncertain significance886039108RCV000247783|RCV001209885|RCV001726080; NMedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN51720212111348899111348899NC_000012.11:g.111348899G>TClinGen:CA10587734CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.483C>T (p.His161=)4633MYL2Likely benign886039108RCV001405765|RCV001186028|RCV002339469; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN2307361211134889911134889912:g.111348899G>A-
NM_000432.4(MYL2):c.473TCA[3] (p.Ile159dup)4633MYL2Uncertain significance1566147363RCV000706166; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134890311134890412:g.111348903_111348904insTGA-C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)4633MYL2Uncertain significance2071647980RCV001221689|RCV001563131|RCV002339586; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN2307361211134890311134890312:g.111348903G>C-
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)4633MYL2Uncertain significance-1RCV002337726|RCV003096459; NMedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348906111348906111348906-
NM_000432.4(MYL2):c.475A>G (p.Ile159Val)4633MYL2Uncertain significance747098269RCV001181002|RCV001876013; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134890711134890712:g.111348907T>C-
NM_000432.4(MYL2):c.474C>T (p.Ile158=)4633MYL2Likely benign1423130699RCV001186204|RCV001442408|RCV002339470; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211134890811134890812:g.111348908G>A-
NM_000432.4(MYL2):c.472A>G (p.Ile158Val)4633MYL2Uncertain significance2071648139RCV001187825|RCV001367322; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134891011134891012:g.111348910T>C-
NM_000432.4(MYL2):c.470A>G (p.His157Arg)4633MYL2Uncertain significance730880951RCV000158933|RCV000766481|RCV001061872; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134891211134891212:g.111348912T>CClinGen:CA010412CN169374 not specified;
NM_000432.4(MYL2):c.469C>T (p.His157Tyr)4633MYL2Uncertain significance777223055RCV000817717|RCV002332690|RCV003226983; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MedGen:CN5172021211134891311134891312:g.111348913G>A-
NM_000432.4(MYL2):c.468G>A (p.Val156=)4633MYL2Likely benign137984206RCV001182519|RCV002068319|RCV003284021; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211134891411134891412:g.111348914C>T-
NM_000432.4(MYL2):c.465G>C (p.Leu155=)4633MYL2Likely benign1256208287RCV001444447; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134891711134891712:g.111348917C>G-
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)4633MYL2Uncertain significance149078011RCV000036407|RCV000544363|RCV001189706|RCV001552678|RCV003162315; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202|MedGen:CN2307361211134892311134892312:g.111348923C>GClinGen:CA010395C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.456C>T (p.Tyr152=)4633MYL2Benign/Likely benign199815885RCV000244942|RCV000534152|RCV000777833|RCV001722368|RCV001729497; NMedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MedGen:CN16937412111348926111348926NC_000012.11:g.111348926G>AClinGen:CA043194CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.454T>G (p.Tyr152Asp)4633MYL2Uncertain significance766036025RCV001352216; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348928111348928111348928-
NM_000432.4(MYL2):c.447C>T (p.Asn149=)4633MYL2Likely benign397516405RCV000036406|RCV000560339; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134893511134893512:g.111348935G>AClinGen:CA010369C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.444C>T (p.Gly148=)4633MYL2Likely benign1555257596RCV000545501|RCV002330873; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111348938111348938NC_000012.11:g.111348938G>AClinGen:CA481750760C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.436G>A (p.Val146Met)4633MYL2Uncertain significance370075755RCV000623019|RCV001180587|RCV001568357|RCV001855290|RCV002331095; NMONDO: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|MedGe12111348946111348946NC_000012.11:g.111348946C>TClinGen:CA043110C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.436G>C (p.Val146Leu)4633MYL2Uncertain significance-1RCV003010376; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348946111348946NC_000012.11:g.111348946C>G-
NM_000432.4(MYL2):c.435C>T (p.Asp145=)4633MYL2Likely benign766907447RCV001183082|RCV001505935|RCV003169407; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211134894711134894712:g.111348947G>A-
NM_000432.4(MYL2):c.434A>G (p.Asp145Gly)4633MYL2Uncertain significance1255677666RCV001317440; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348948111348948111348948-
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)4633MYL2Uncertain significance199567559RCV000172052|RCV000795137|RCV000852437|RCV001191379|RCV002326947|RCV003323424; NMedGen: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:CN16937412111348949111348949NC_000012.11:g.111348949C>TClinGen:CA010362CN517202 not provided;
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)4633MYL2Conflicting interpretations of pathogenicity1566147422RCV000770390|RCV001089865|RCV001553794|RCV001507317|RCV003166034; NHuman 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:CN23073612111348950111348951NC_000012.11:g.111348950_111348951delOMIM:160781.0009
NM_000432.4(MYL2):c.432del (p.Asp145fs)4633MYL2Uncertain significance2071649414RCV001347471|RCV001553793; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:61942412111348950111348950111348949OMIM:160781.0008
NM_000432.4(MYL2):c.431del (p.Pro144fs)4633MYL2Uncertain significance786205430RCV000171842|RCV000618518|RCV001553792|RCV001852081; NHuman 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:60875812111348951111348951NC_000012.11:g.111348956delClinGen:CA010340,OMIM:160781.0007CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.431C>G (p.Pro144Arg)4633MYL2Uncertain significance755993281RCV001039065|RCV001597243; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN5172021211134895111134895112:g.111348951G>C-
NM_000432.4(MYL2):c.431C>A (p.Pro144His)4633MYL2Uncertain significance755993281RCV001064899; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134895111134895112:g.111348951G>T-
NM_000432.4(MYL2):c.431C>T (p.Pro144Leu)4633MYL2Uncertain significance-1RCV003087256; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348951111348951NC_000012.11:g.111348951G>A-
NM_000432.4(MYL2):c.430C>A (p.Pro144Thr)4633MYL2Uncertain significance777689913RCV000473250; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348952111348952NC_000012.11:g.111348952G>TClinGen:CA042991C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)4633MYL2Uncertain significance777689913RCV000772853|RCV000809944; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348952111348952NC_000012.11:g.111348952G>C-
NM_000432.4(MYL2):c.429C>G (p.Pro143=)4633MYL2Likely benign374328118RCV000036405|RCV000462127|RCV002326735; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211134895311134895312:g.111348953G>CClinGen:CA010353C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)4633MYL2Uncertain significance727504341RCV000154458|RCV000763791|RCV002326880|RCV002478451; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:6194241211134895411134895412:g.111348954G>AClinGen:CA010349CN169374 not specified;
NM_000432.4(MYL2):c.427C>A (p.Pro143Thr)4633MYL2Uncertain significance1555257600RCV000639675|RCV002223234; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN51720212111348955111348955NC_000012.11:g.111348955G>TClinGen:CA386696952C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.425T>C (p.Phe142Ser)4633MYL2Uncertain significance1414230972RCV001890925; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348957111348957111348957-
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)4633MYL2Uncertain significance747192296RCV001526320|RCV001776247|RCV002329656|RCV002568125; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348958111348958111348958-
NM_000432.4(MYL2):c.424T>A (p.Phe142Ile)4633MYL2Uncertain significance-1RCV002993891; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348958111348958NC_000012.11:g.111348958A>T-
NM_000432.4(MYL2):c.422C>A (p.Ala141Asp)4633MYL2Uncertain significance1024307408RCV001213004|RCV001806050; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211134896011134896012:g.111348960G>T-
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)4633MYL2Uncertain significance727504559RCV000155724|RCV000530339|RCV000852438|RCV001555854; NMedGen: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:D0021211134896111134896112:g.111348961C>TClinGen:CA010334C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.420C>T (p.Ala140=)4633MYL2Likely benign369489428RCV002064634|RCV002332812; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211134896211134896212:g.111348962G>A-
NM_000432.4(MYL2):c.419C>T (p.Ala140Val)4633MYL2Uncertain significance-1RCV002617089; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348963111348963NC_000012.11:g.111348963G>A-
NM_000432.4(MYL2):c.418G>A (p.Ala140Thr)4633MYL2Uncertain significance1467265277RCV000639672; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348964111348964NC_000012.11:g.111348964C>TClinGen:CA386696998C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.417C>T (p.Phe139=)4633MYL2Likely benign781107246RCV001176106|RCV001429557; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134896511134896512:g.111348965G>A-
NM_000432.4(MYL2):c.413T>A (p.Met138Lys)4633MYL2Uncertain significance748760581RCV001042334|RCV001189350|RCV003117716; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN5172021211134896911134896912:g.111348969A>T-
NM_000432.4(MYL2):c.409C>T (p.Gln137Ter)4633MYL2Uncertain significance-1RCV002601203; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348973111348973NC_000012.11:g.111348973G>A-
NM_000432.4(MYL2):c.408C>T (p.Asp136=)4633MYL2Likely benign1356499130RCV001526216|RCV002324126|RCV002070335; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348974111348974111348974-
NM_000432.4(MYL2):c.403G>T (p.Val135Phe)4633MYL2Uncertain significance-1RCV003075417; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348979111348979NC_000012.11:g.111348979C>A-
NM_000432.4(MYL2):c.403-1G>C4633MYL2Conflicting interpretations of pathogenicity199474813RCV000024459|RCV000466598|RCV001553791|RCV003162260; NMedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MedGen:CN2307361211134898011134898012:g.111348980C>GClinGen:CA010295,Leiden Muscular Dystrophy (MYL2):MYL2_00009,OMIM:160781.0006C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.403-1G>T4633MYL2Conflicting interpretations of pathogenicity199474813RCV000455988|RCV000801781; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348980111348980NC_000012.11:g.111348980C>AClinGen:CA16609752CN169374 not specified;
NM_000432.4(MYL2):c.403-1G>A4633MYL2Pathogenic-1RCV003068888; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348980111348980NC_000012.11:g.111348980C>T-
NM_000432.4(MYL2):c.403-4G>C4633MYL2Likely benign200888544RCV001448295; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348983111348983NC_000012.11:g.111348983C>GClinGen:CA349991C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.403-6T>C4633MYL2Conflicting interpretations of pathogenicity763332557RCV001179272|RCV002558905; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134898511134898512:g.111348985A>G-
NM_000432.4(MYL2):c.403-7A>C4633MYL2Likely benign2071650175RCV001421367; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348986111348986111348986-
NM_000432.4(MYL2):c.403-8C>T4633MYL2Likely benign1440682502RCV001191155|RCV001459181; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134898711134898712:g.111348987G>A-
NM_000432.4(MYL2):c.403-11G>A4633MYL2Likely benign1212140808RCV001192263|RCV002560149; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134899011134899012:g.111348990C>T-
NM_000432.4(MYL2):c.403-15G>C4633MYL2Likely benign202105636RCV001178625|RCV002067891; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211134899411134899412:g.111348994C>G-
NM_000432.4(MYL2):c.403-18G>A4633MYL2Likely benign-1RCV003079377; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348997111348997NC_000012.11:g.111348997C>T-
NM_000432.4(MYL2):c.403-20G>A4633MYL2Likely benign759088974RCV001980708; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111348999111348999111348999-
NC_000012.11:g.(?_111350880)_(111352114_?)dup4633MYL2Uncertain significance-1RCV003111225; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350880111352114-
NM_000432.4(MYL2):c.402+17A>G4633MYL2Likely benign1555257745RCV000609833|RCV001860264; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135088311135088312:g.111350883T>CClinGen:CA658797956CN169374 not specified;
NM_000432.4(MYL2):c.402+10T>A4633MYL2Likely benign2136770333RCV002168602; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350890111350890111350890-
NM_000432.4(MYL2):c.402+9G>A4633MYL2Likely benign-1RCV003069033; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350891111350891NC_000012.11:g.111350891C>T-
NM_000432.4(MYL2):c.402+8G>T4633MYL2Uncertain significance886048959RCV000372860; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135089211135089212:g.111350892C>AClinGen:CA10640207C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.402+7G>C4633MYL2Likely benign-1RCV003024861; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350893111350893NC_000012.11:g.111350893C>G-
NM_000432.4(MYL2):c.402+6G>C4633MYL2Conflicting interpretations of pathogenicity749765328RCV000228499|RCV001175834; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:16784812111350894111350894NC_000012.11:g.111350894C>GClinGen:CA042563C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.402+1G>T4633MYL2Uncertain significance1555257746RCV000579194|RCV001860014; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135089911135089912:g.111350899C>AClinGen:CA386697684CN169374 not specified;
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)4633MYL2Conflicting interpretations of pathogenicity143139258RCV000036404|RCV000119379|RCV000154179|RCV000211874|RCV000248445|RCV000491626|RCV000624611|RCV000678725|RCV000776290; NHuman 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, Orphanet1211135090111135090112:g.111350901T>GClinGen:CA010278CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.400G>T (p.Glu134Ter)4633MYL2Uncertain significance2136770365RCV001886628; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350902111350902111350902-
NM_000432.4(MYL2):c.394A>C (p.Lys132Gln)4633MYL2Uncertain significance1387580638RCV001936598; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350908111350908111350908-
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)4633MYL2Uncertain significance-1RCV002805883; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350911111350911NC_000012.11:g.111350911A>T-
NM_000432.4(MYL2):c.389T>A (p.Phe130Tyr)4633MYL2Uncertain significance-1RCV002659260; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350913111350913NC_000012.11:g.111350913A>T-
NM_000432.4(MYL2):c.387G>A (p.Arg129=)4633MYL2Likely benign774686046RCV000618872|RCV001190199|RCV001417069; NMedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135091511135091512:g.111350915C>TClinGen:CA042421CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.381G>A (p.Ala127=)4633MYL2Benign/Likely benign2233261RCV000030325|RCV000036402|RCV000234665|RCV000245283|RCV000770392|RCV001705608|RCV003125846; NMONDO: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:C31211135092111135092112:g.111350921C>TClinGen:CA010251CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.380C>T (p.Ala127Val)4633MYL2Uncertain significance141878747RCV000461391|RCV002466505|RCV003298489; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN23073612111350922111350922NC_000012.11:g.111350922G>AClinGen:CA042393C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)4633MYL2Uncertain significance1064796377RCV000478881|RCV001064739|RCV001170434|RCV002481532; NMedGen: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:6194241211135092611135092612:g.111350926G>CClinGen:CA16619434CN169374 not specified;
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)4633MYL2Likely pathogenic1064796377RCV001723361|RCV002506746; NMedGen:C3661900|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350926111350926111350926-
NM_000432.4(MYL2):c.375G>A (p.Thr125=)4633MYL2Likely benign190020833RCV000551899|RCV000777852|RCV002476147|RCV003352910; NMONDO: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:CN23073612111350927111350927NC_000012.11:g.111350927C>TClinGen:CA042349C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.375G>C (p.Thr125=)4633MYL2Likely benign190020833RCV001469613|RCV002350957; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111350927111350927111350927-
NM_000432.4(MYL2):c.374C>T (p.Thr125Met)4633MYL2Uncertain significance375667565RCV000036400|RCV000157370|RCV000766480|RCV001238992|RCV003362671; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135092811135092812:g.111350928G>AClinGen:CA010229C0878544 Cardiomyopathy;
NM_000432.4(MYL2):c.374C>A (p.Thr125Lys)4633MYL2Uncertain significance375667565RCV000639676; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350928111350928NC_000012.11:g.111350928G>TClinGen:CA386697753C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.369G>A (p.Leu123=)4633MYL2Likely benign2136770430RCV001446006; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350933111350933111350933-
NM_000432.4(MYL2):c.367C>T (p.Leu123=)4633MYL2Likely benign2136770433RCV002130885; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350935111350935111350935-
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)4633MYL2Conflicting interpretations of pathogenicity192057022RCV000030324|RCV000036398|RCV000228967|RCV000618181|RCV000994981|RCV001185060|RCV002482922; NMONDO: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:1211135094311135094312:g.111350943C>TClinGen:CA010211CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.359G>T (p.Arg120Leu)4633MYL2Uncertain significance192057022RCV001114909; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135094311135094312:g.111350943C>A-
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)4633MYL2Uncertain significance397516404RCV000036397|RCV000770393|RCV001056367|RCV003133123; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN5172021211135094411135094412:g.111350944G>AClinGen:CA010200CN169374 not specified;
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)4633MYL2Uncertain significance397516404RCV000172053|RCV001063811|RCV001180082|RCV002484988|RCV003352788; NMedGen: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|MedGe1211135094411135094412:g.111350944G>CClinGen:CA010193CN517202 not provided;
NM_000432.4(MYL2):c.356T>A (p.Val119Asp)4633MYL2Uncertain significance2136770460RCV001952856; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350946111350946111350946-
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)4633MYL2Conflicting interpretations of pathogenicity730880940RCV000216431|RCV000766479|RCV001170435|RCV001227375|RCV003298187; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135094711135094712:g.111350947C>TClinGen:CA010182CN169374 not specified;
NM_000432.4(MYL2):c.354C>T (p.Tyr118=)4633MYL2Conflicting interpretations of pathogenicity750193844RCV001109258|RCV002339403; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135094811135094812:g.111350948G>A-
NM_000432.4(MYL2):c.354-3C>G4633MYL2Uncertain significance758158083RCV000822431|RCV001766743; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN5172021211135095111135095112:g.111350951G>C-
NM_000432.4(MYL2):c.354-6C>T4633MYL2Likely benign977023771RCV001470990; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350954111350954NC_000012.11:g.111350954G>AClinGen:CA16613667C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.354-6C>G4633MYL2Likely benign977023771RCV001713276|RCV002073345; NMedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350954111350954111350954-
NM_000432.4(MYL2):c.354-8C>A4633MYL2Likely benign767657562RCV001427495; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350956111350956111350956-
NM_000432.4(MYL2):c.354-17C>G4633MYL2Likely benign2136770510RCV002167503; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350965111350965111350965-
NM_000432.4(MYL2):c.354-18G>A4633MYL2Benign/Likely benign752927354RCV001694431|RCV002073224; NMedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350966111350966111350966-
NM_000432.4(MYL2):c.354-20C>G4633MYL2Likely benign376261948RCV002207031; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111350968111350968111350968-
NM_000432.4(MYL2):c.353+21A>C4633MYL2Likely benign2136770699RCV002145385; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351029111351029111351029-
NM_000432.4(MYL2):c.353+20del4633MYL2Benign3833910RCV000024463|RCV000222305|RCV000610862|RCV001778662|RCV003125837; NMedGen: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:C00188021211135103011135103012:g.111351030_111351030delClinGen:CA010148,Leiden Muscular Dystrophy (MYL2):MYL2_00016C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.353+19G>A4633MYL2Likely benign-1RCV003078480; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351031111351031NC_000012.11:g.111351031C>T-
NM_000432.4(MYL2):c.353+16G>A4633MYL2Benign/Likely benign572363699RCV000600454|RCV001701062; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN1693741211135103411135103412:g.111351034C>TClinGen:CA041861C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.353+16G>T4633MYL2Likely benign572363699RCV002007193; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351034111351034111351034-
NM_000432.4(MYL2):c.353+12C>A4633MYL2Benign/Likely benign186323458RCV000036396|RCV001109259|RCV001636620; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C36619001211135103811135103812:g.111351038G>TClinGen:CA010139CN169374 not specified;
NM_000432.4(MYL2):c.353+9G>A4633MYL2Likely benign2136770734RCV002181407; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351041111351041111351041-
NM_000432.4(MYL2):c.353+7G>A4633MYL2Likely benign764227154RCV000465883; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351043111351043NC_000012.11:g.111351043C>TClinGen:CA042052C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.353+6T>A4633MYL2Uncertain significance372824804RCV000203063|RCV001181055; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135104411135104412:g.111351044A>TClinGen:CA042041C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.353+4A>C4633MYL2Uncertain significance757267554RCV001244522; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135104611135104612:g.111351046T>G-
NM_000432.4(MYL2):c.352dup (p.Tyr118fs)4633MYL2Uncertain significance2136770744RCV002017796; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351050111351051111351050-
NM_000432.4(MYL2):c.341_348dup (p.Asp117Ter)4633MYL2Uncertain significance-1RCV003049937; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351054111351055NC_000012.11:g.111351055_111351062dup-
NM_000432.4(MYL2):c.347C>T (p.Ala116Val)4633MYL2Uncertain significance1566148270RCV000688527|RCV001190452|RCV001775958|RCV002334270; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202|MedGen:CN2307361211135105611135105612:g.111351056G>A-C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.342G>A (p.Leu114=)4633MYL2Benign/Likely benign199572927RCV000036395|RCV000467703|RCV001170436|RCV002292460|RCV002453304; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MedGen:CN2307361211135106111135106112:g.111351061C>TClinGen:CA010126C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.325G>T (p.Glu109Ter)4633MYL2Uncertain significance2136770789RCV001944563; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351078111351078111351078-
NM_000432.4(MYL2):c.322C>T (p.Pro108Ser)4633MYL2Uncertain significance1555257773RCV000546425; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351081111351081NC_000012.11:g.111351081G>AClinGen:CA386697984C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.316_319del (p.Phe106fs)4633MYL2Uncertain significance2071666714RCV001972290; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351084111351087111351083-
NM_000432.4(MYL2):c.315G>C (p.Val105=)4633MYL2Likely benign768415509RCV000417604|RCV001187664|RCV002062504; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135108811135108812:g.111351088C>GClinGen:CA041584CN169374 not specified;
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu)4633MYL2Uncertain significance199474811RCV000024461|RCV001852572; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135109311135109312:g.111351093T>CClinGen:CA010079,Leiden Muscular Dystrophy (MYL2):MYL2_00011CN517202 not provided;
NM_000432.4(MYL2):c.299_309del (p.Leu100fs)4633MYL2Uncertain significance2071666850RCV001187629|RCV001876197|RCV003284028; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135109411135110412:g.111351094_111351104del-
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)4633MYL2Conflicting interpretations of pathogenicity547860537RCV000172054|RCV001086360|RCV001184261|RCV002321668; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN23073612111351095111351095NC_000012.11:g.111351095A>CClinGen:CA010071C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.305C>T (p.Ala102Val)4633MYL2Uncertain significance2071666913RCV001059953|RCV002445313; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135109811135109812:g.111351098G>A-
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr)4633MYL2Uncertain significance369868176RCV000770394|RCV002442576|RCV002536609; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351099111351099NC_000012.11:g.111351099C>T-
NM_000432.4(MYL2):c.304G>T (p.Ala102Ser)4633MYL2Uncertain significance369868176RCV001805396|RCV002541429; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351099111351099111351099-
NM_000432.4(MYL2):c.303C>T (p.Asn101=)4633MYL2Likely benign1317472220RCV001179256|RCV001443899|RCV002445422; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135110011135110012:g.111351100G>A-
NM_000432.4(MYL2):c.302A>G (p.Asn101Ser)4633MYL2Uncertain significance886048960RCV000278835|RCV001181051; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135110111135110112:g.111351101T>CClinGen:CA10640938C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.300C>T (p.Leu100=)4633MYL2Likely benign1253123682RCV001421724; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351103111351103111351103-
NM_000432.4(MYL2):c.298C>G (p.Leu100Val)4633MYL2Conflicting interpretations of pathogenicity573898913RCV001188416|RCV002068502; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135110511135110512:g.111351105G>C-
NM_000432.4(MYL2):c.295A>G (p.Ile99Val)4633MYL2Uncertain significance2136770879RCV001917385; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351108111351108111351108-
NM_000432.4(MYL2):c.290A>T (p.Glu97Val)4633MYL2Uncertain significance2136770896RCV001877831; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351113111351113111351113-
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys)4633MYL2Uncertain significance1555257777RCV000531533|RCV002438360; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111351114111351114NC_000012.11:g.111351114C>TClinGen:CA386698121C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.285T>G (p.Pro95=)4633MYL2Likely benign1592799785RCV001398444; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351118111351118111351118-
NM_000432.4(MYL2):c.284C>T (p.Pro95Leu)4633MYL2Uncertain significance-1RCV002806850; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351119111351119NC_000012.11:g.111351119G>A-
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala)4633MYL2Pathogenic121913658RCV000015110; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135112011135112012:g.111351120G>CClinGen:CA010047,Leiden Muscular Dystrophy (MYL2):MYL2_00007,UniProtKB:P10916#VAR_004605,OMIM:160781.0003C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.283C>T (p.Pro95Ser)4633MYL2Uncertain significance121913658RCV001887426; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351120111351120111351120-
NM_000432.4(MYL2):c.279G>A (p.Ala93=)4633MYL2Benign/Likely benign28645088RCV000151361|RCV000253500|RCV000471087|RCV000770395; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135112411135112412:g.111351124C>TClinGen:CA010036CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.278C>T (p.Ala93Val)4633MYL2Uncertain significance774193307RCV000639679; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135112511135112512:g.111351125G>AClinGen:CA041332C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu)4633MYL2Uncertain significance774193307RCV001063816|RCV001195235|RCV001760032; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN5172021211135112511135112512:g.111351125G>T-
NM_000432.4(MYL2):c.275G>T (p.Gly92Val)4633MYL2Uncertain significance727503297RCV000151362|RCV002516041; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135112811135112812:g.111351128C>AClinGen:CA010026C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu)4633MYL2Uncertain significance727503297RCV001799465|RCV002304238|RCV002440882; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111351128111351128111351128-
NM_000432.4(MYL2):c.275-2A>G4633MYL2Uncertain significance112557362RCV001804672|RCV001869529; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351130111351130111351130-
NM_000432.4(MYL2):c.275-7G>A4633MYL2Benign/Likely benign373241541RCV000438240|RCV000474463|RCV001170437; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135113511135113512:g.111351135C>TClinGen:CA041297C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.275-8C>A4633MYL2Uncertain significance765328765RCV000639681; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135113611135113612:g.111351136G>TClinGen:CA658797957C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.275-8C>T4633MYL2Likely benign765328765RCV000827559|RCV001078614|RCV001186858; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135113611135113612:g.111351136G>A-
NM_000432.4(MYL2):c.275-12G>A4633MYL2Conflicting interpretations of pathogenicity750937792RCV000338600|RCV000427131|RCV001181529; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135114011135114012:g.111351140C>TClinGen:CA041181C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.275-14G>C4633MYL2Conflicting interpretations of pathogenicity375703502RCV000213783|RCV001182742|RCV002054960; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135114211135114212:g.111351142C>GClinGen:CA041202CN169374 not specified;
NM_000432.4(MYL2):c.275-19G>A4633MYL2Likely benign-1RCV002595358; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351147111351147NC_000012.11:g.111351147C>T-
NM_000432.4(MYL2):c.274+16_274+17insTC4633MYL2Benign200007468RCV000158903|RCV000625483|RCV001174735|RCV001529455; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:C36619001211135197311135197412:g.111351973_111351974insAGClinGen:CA009979C0878544 Cardiomyopathy;
NM_000432.4(MYL2):c.274+11_274+12insGC4633MYL2Likely benign-1RCV003067446; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351978111351979NC_000012.11:g.111351979_111351980insGC-
NM_000432.4(MYL2):c.274+9G>A4633MYL2Conflicting interpretations of pathogenicity371405579RCV000036390|RCV000392808|RCV000474766|RCV003149628; NMedGen: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:1678481211135198111135198112:g.111351981C>TClinGen:CA010014C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.274+8_274+9insAT4633MYL2Uncertain significance572538551RCV000457636; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351981111351982NC_000012.11:g.111351981_111351982insATClinGen:CA6788119C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.274+8C>T4633MYL2Likely benign397516400RCV000036389|RCV000872988; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135198211135198212:g.111351982G>AClinGen:CA010001CN169374 not specified;
NM_000432.4(MYL2):c.274+7T>C4633MYL2Likely benign771812779RCV002114501; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351983111351983111351983-
NM_000432.4(MYL2):c.274+6G>T4633MYL2Uncertain significance776878088RCV000770396|RCV001855727; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351984111351984NC_000012.11:g.111351984C>A-
NM_000432.4(MYL2):c.274+4A>G4633MYL2Uncertain significance2136772104RCV001942595; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351986111351986111351986-
NM_000432.4(MYL2):c.274G>A (p.Gly92Arg)4633MYL2Uncertain significance1358384301RCV001933956; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111351990111351990111351990-
NM_000432.4(MYL2):c.264G>A (p.Glu88=)4633MYL2Likely benign1187321974RCV001492018; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352000111352000111352000-
NM_000432.4(MYL2):c.263A>C (p.Glu88Ala)4633MYL2Uncertain significance-1RCV002856950; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352001111352001NC_000012.11:g.111352001T>G-
NM_000432.4(MYL2):c.260G>A (p.Gly87Glu)4633MYL2Uncertain significance397516399RCV000692199|RCV001538762|RCV002424631; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN2307361211135200411135200412:g.111352004C>T-C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.259G>A (p.Gly87Arg)4633MYL2Uncertain significance2136772130RCV001822034|RCV001885309; NMedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352005111352005111352005-
NM_000432.4(MYL2):c.259G>C (p.Gly87Arg)4633MYL2Uncertain significance-1RCV002913647; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352005111352005NC_000012.11:g.111352005C>G-
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)4633MYL2Uncertain significance730880950RCV000158925|RCV001180080|RCV001370474|RCV002247553|RCV002426780; NMedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN2307361211135200711135200712:g.111352007A>GClinGen:CA009962CN517202 not provided;
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)4633MYL2Uncertain significance765287559RCV000822404|RCV002223255|RCV002427065; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|MedGen:CN2307361211135200811135200812:g.111352008A>G-
NM_000432.4(MYL2):c.255G>A (p.Met85Ile)4633MYL2Uncertain significance1385880379RCV001239501|RCV002451582; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135200911135200912:g.111352009C>T-
NM_000432.4(MYL2):c.254T>C (p.Met85Thr)4633MYL2Uncertain significance1592800278RCV000821299; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135201011135201012:g.111352010A>G-
NM_000432.4(MYL2):c.253A>G (p.Met85Val)4633MYL2Uncertain significance1592800281RCV000798623|RCV003344054; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135201111135201112:g.111352011T>C-
NM_000432.4(MYL2):c.249C>T (p.Leu83=)4633MYL2Likely benign1240275237RCV001505720; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352015111352015111352015-
NM_000432.4(MYL2):c.247C>G (p.Leu83Val)4633MYL2Uncertain significance2071673990RCV001057148; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135201711135201712:g.111352017G>C-
NM_000432.4(MYL2):c.243G>T (p.Val81=)4633MYL2Benign/Likely benign368851472RCV000036386|RCV000552836|RCV000619440|RCV000769366|RCV001642555; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C36619001211135202111135202112:g.111352021C>AClinGen:CA009955CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.240del (p.Val81fs)4633MYL2Uncertain significance2071674087RCV001345783; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352024111352024111352023-
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)4633MYL2Pathogenic/Likely pathogenic587782965RCV000143928|RCV000542482|RCV000844710; NMONDO: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:2175691211135202511135202512:g.111352025G>TClinGen:CA009949C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.232A>G (p.Asn78Asp)4633MYL2Uncertain significance2136772211RCV001359060|RCV001776218; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C366190012111352032111352032111352032-
NM_000432.4(MYL2):c.229A>G (p.Ile77Val)4633MYL2Uncertain significance373475989RCV000639680|RCV002424423; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111352035111352035NC_000012.11:g.111352035T>CClinGen:CA040848C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.222G>A (p.Pro74=)4633MYL2Likely benign372644111RCV000443467|RCV000607532|RCV001191580|RCV001700368|RCV002429358; NMedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN2307361211135204211135204212:g.111352042C>TClinGen:CA040809C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.221C>T (p.Pro74Leu)4633MYL2Uncertain significance942467544RCV001176400|RCV001875812; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135204311135204312:g.111352043G>A-
NM_000432.4(MYL2):c.221C>G (p.Pro74Arg)4633MYL2Uncertain significance-1RCV002766819; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352043111352043NC_000012.11:g.111352043G>C-
NM_000432.4(MYL2):c.218C>A (p.Ala73Asp)4633MYL2Uncertain significance2136772253RCV001910476; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352046111352046111352046-
NM_000432.4(MYL2):c.217G>T (p.Ala73Ser)4633MYL2Uncertain significance2136772254RCV002049589; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352047111352047111352047-
NM_000432.4(MYL2):c.216G>A (p.Glu72=)4633MYL2Likely benign376506450RCV000527877|RCV001182236|RCV002420421; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN2307361211135204811135204812:g.111352048C>TClinGen:CA040768C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.212A>T (p.Lys71Met)4633MYL2Uncertain significance2136772274RCV002014353; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352052111352052111352052-
NM_000432.4(MYL2):c.207G>T (p.Met69Ile)4633MYL2Uncertain significance866041854RCV000554010; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135205711135205712:g.111352057C>AClinGen:CA386698784C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.206T>C (p.Met69Thr)4633MYL2Uncertain significance2071674449RCV001191590|RCV001876239|RCV002484051; NHuman 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:6194241211135205811135205812:g.111352058A>G-
NM_000432.4(MYL2):c.205A>C (p.Met69Leu)4633MYL2Uncertain significance2136772287RCV002273281; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352059111352059111352059-
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)4633MYL2Uncertain significance752456288RCV000687538|RCV002485609|RCV002544780; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758; MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424|MeSH:D030342,MedGen:C09501231211135206111135206112:g.111352061T>C-C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.197_203del (p.Ile66fs)4633MYL2Uncertain significance2136772297RCV002027195; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352061111352067111352060-
NM_000432.4(MYL2):c.193G>A (p.Glu65Lys)4633MYL2Conflicting interpretations of pathogenicity397516398RCV000626688|RCV001588846|RCV002513380; NHuman Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135207111135207112:g.111352071C>TClinGen:CA009936C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.188del (p.Asn63fs)4633MYL2Conflicting interpretations of pathogenicity1177936172RCV001191866|RCV001211451|RCV001567726|RCV002411721|RCV003396801; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C3661900|MedGen:CN230736|MedGen:CN1693741211135207611135207612:g.111352076_111352076del-
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)4633MYL2Conflicting interpretations of pathogenicity201728041RCV000151365|RCV000198198|RCV000766353|RCV001177585; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135208011135208012:g.111352080T>AClinGen:CA009930C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.183G>A (p.Val61=)4633MYL2Likely benign933908830RCV002192759; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352081111352081111352081-
NM_000432.4(MYL2):c.181G>A (p.Val61Met)4633MYL2Uncertain significance730880949RCV000158924|RCV001241595|RCV001524471; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:16784812111352083111352083NC_000012.11:g.111352083C>TClinGen:CA009922CN169374 not specified;
NM_000432.4(MYL2):c.181G>C (p.Val61Leu)4633MYL2Uncertain significance730880949RCV001193581|RCV002559224; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135208311135208312:g.111352083C>G-
NM_000432.4(MYL2):c.175G>A (p.Val59Met)4633MYL2Uncertain significance2071674789RCV001049441; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135208911135208912:g.111352089C>T-
NM_000432.4(MYL2):c.174A>G (p.Arg58=)4633MYL2Likely benign777225996RCV001179480|RCV002068244; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135209011135209012:g.111352090T>C-
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)4633MYL2Pathogenic104894369RCV000015111|RCV000158923|RCV000157369|RCV000621867|RCV000844711|RCV001798005; NMONDO: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:2171211135209111135209112:g.111352091C>TClinGen:CA009915,Leiden Muscular Dystrophy (MYL2):MYL2_00005,UniProtKB:P10916#VAR_004604,OMIM:160781.0004CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.173G>T (p.Arg58Leu)4633MYL2Likely pathogenic104894369RCV000639677|RCV001575874; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:C36619001211135209111135209112:g.111352091C>AClinGen:CA386698863C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.172C>A (p.Arg58=)4633MYL2Likely benign756671869RCV000866987|RCV001183865; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135209211135209212:g.111352092G>T-
NM_000432.4(MYL2):c.172C>T (p.Arg58Ter)4633MYL2Uncertain significance756671869RCV001903576; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352092111352092111352092-
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)4633MYL2Uncertain significance199474809RCV000036384|RCV000119378|RCV000620413|RCV000819932|RCV001187128; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135209411135209412:g.111352094C>TClinGen:CA009910CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.170-1G>A4633MYL2Uncertain significance1566148738RCV001052699|RCV002400306; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135209511135209512:g.111352095C>T-
NM_000432.4(MYL2):c.170-20GT[3]4633MYL2Likely benign764824483RCV001181554|RCV001697966|RCV002063976; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135210711135210812:g.111352107_111352108delClinGen:CA040311CN169374 not specified;
NM_000432.4(MYL2):c.170-14G>C4633MYL2Likely benign371431719RCV001183080|RCV002559818; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135210811135210812:g.111352108C>G-
NM_000432.4(MYL2):c.170-17T>C4633MYL2Likely benign1453191107RCV002124078; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111352111111352111111352111-
NM_000432.4(MYL2):c.170-19T>C4633MYL2Benign115522476RCV000030321|RCV000612374|RCV000852686|RCV001650850|RCV003125845; NMedGen: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:C0007194,1211135211311135211312:g.111352113A>GClinGen:CA009904C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.169+18G>C4633MYL2Likely benign375152116RCV002197209; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353501111353501111353501-
NM_000432.4(MYL2):c.169+13C>T4633MYL2Likely benign367740411RCV002094188|RCV003126171; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:21756912111353506111353506111353506-
NM_000432.4(MYL2):c.166_169+13del4633MYL2Uncertain significance-1RCV003072158; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353506111353522NC_000012.11:g.111353507_111353523del-
NM_000432.4(MYL2):c.169+7C>T4633MYL2Likely benign371784522RCV000862949; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135351211135351212:g.111353512G>A-
NM_000432.4(MYL2):c.169+3A>T4633MYL2Uncertain significance-1RCV002829411; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353516111353516NC_000012.11:g.111353516T>A-
NM_000432.4(MYL2):c.169G>A (p.Gly57Arg)4633MYL2Uncertain significance2428140RCV001308163; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353519111353519111353519-
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)4633MYL2Conflicting interpretations of pathogenicity727504425RCV000154622|RCV000489222|RCV001297385|RCV002399541; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135352511135352512:g.111353525C>AClinGen:CA009898CN517202 not provided;
NM_000432.4(MYL2):c.163G>C (p.Ala55Pro)4633MYL2Likely pathogenic727504425RCV000988908; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135352511135352512:g.111353525C>G-
NM_000432.4(MYL2):c.161C>T (p.Ala54Val)4633MYL2Uncertain significance2136773989RCV001805350|RCV001869536; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353527111353527111353527-
NM_000432.4(MYL2):c.160G>T (p.Ala54Ser)4633MYL2Uncertain significance1171745073RCV001973723; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353528111353528111353528-
NM_000432.4(MYL2):c.160G>A (p.Ala54Thr)4633MYL2Uncertain significance-1RCV003092373; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353528111353528NC_000012.11:g.111353528C>T-
NM_000432.4(MYL2):c.156C>A (p.Thr52=)4633MYL2Likely benign761358011RCV000774111|RCV000867120|RCV002397541; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111353532111353532NC_000012.11:g.111353532G>T-
NM_000432.4(MYL2):c.147G>A (p.Leu49=)4633MYL2Likely benign749936467RCV001177368|RCV001416131; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353541111353541NC_000012.11:g.111353541C>TClinGen:CA040111C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.142G>T (p.Asp48Tyr)4633MYL2Uncertain significance727504405RCV000154586|RCV001350528; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135354611135354612:g.111353546C>AClinGen:CA009885CN169374 not specified;
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)4633MYL2Uncertain significance727504405RCV000810331|RCV000852439|RCV002507408; NMONDO: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:6087581211135354611135354612:g.111353546C>T-
NM_000432.4(MYL2):c.141C>T (p.Asn47=)4633MYL2Likely benign199474808RCV000036382|RCV000538837|RCV002390143; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135354711135354712:g.111353547G>AClinGen:CA009880C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.138G>A (p.Lys46=)4633MYL2Likely benign1267967428RCV002109078|RCV003307997; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111353550111353550111353550-
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu)4633MYL2Uncertain significance199474807RCV002013213; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353553111353553111353553-
NM_000432.4(MYL2):c.133G>A (p.Asp45Asn)4633MYL2Uncertain significance1363460648RCV001907114; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353555111353555111353555-
NM_000432.4(MYL2):c.132T>C (p.Ile44=)4633MYL2Benign2301610RCV000024462|RCV000036380|RCV000251488|RCV000599777|RCV000776005|RCV003125836; NMedGen: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:000661211135355611135355612:g.111353556A>GClinGen:CA009859,Leiden Muscular Dystrophy (MYL2):MYL2_00015CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)4633MYL2Conflicting interpretations of pathogenicity863225117RCV000201445|RCV001178807|RCV002426954; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN23073612111353563111353563NC_000012.11:g.111353563C>TClinGen:CA279277C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.120G>A (p.Arg40=)4633MYL2Likely benign571489007RCV001476188; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353568111353568111353568-
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)4633MYL2Uncertain significance727503299RCV000151367|RCV000464490|RCV000624062|RCV000766478|RCV001293059|RCV002345474; NMedGen: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:2171211135356911135356912:g.111353569C>TClinGen:CA009847C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.119G>T (p.Arg40Met)4633MYL2Uncertain significance727503299RCV000155752|RCV000463477; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135356911135356912:g.111353569C>AClinGen:CA009851C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.119G>C (p.Arg40Thr)4633MYL2Uncertain significance727503299RCV001337424; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353569111353569111353569-
NM_000432.4(MYL2):c.103A>G (p.Ile35Val)4633MYL2Uncertain significance730880946RCV001219554|RCV002390384; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135358511135358512:g.111353585T>C-
NM_000432.4(MYL2):c.101C>A (p.Thr34Asn)4633MYL2Uncertain significance-1RCV003051522; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353587111353587NC_000012.11:g.111353587G>T-
NM_000432.4(MYL2):c.99C>T (p.Phe33=)4633MYL2Likely benign2136774131RCV002173743; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353589111353589111353589-
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)4633MYL2Uncertain significance730880945RCV000158916|RCV000537629|RCV001186245|RCV002505191|RCV003352786; NMedGen: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|MedGe1211135359111135359112:g.111353591A>GClinGen:CA010549C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.94-1G>C4633MYL2Uncertain significance-1RCV003009745; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353595111353595NC_000012.11:g.111353595C>G-
NM_000432.4(MYL2):c.94-3C>T4633MYL2Conflicting interpretations of pathogenicity112865045RCV000769368|RCV001373378; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353597111353597NC_000012.11:g.111353597G>A-
NM_000432.4(MYL2):c.94-9C>T4633MYL2Likely benign1476443487RCV000559322; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353603111353603NC_000012.11:g.111353603G>AClinGen:CA607330210C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.94-15A>C4633MYL2Likely benign1202280683RCV002117320; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353609111353609111353609-
NM_000432.4(MYL2):c.94-16C>G4633MYL2Likely benign745969429RCV002119643; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353610111353610111353610-
NM_000432.4(MYL2):c.94-17T>C4633MYL2Likely benign-1RCV003053792; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353611111353611NC_000012.11:g.111353611A>G-
NM_000432.4(MYL2):c.94-19A>G4633MYL2Likely benign921973455RCV001962618; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111353613111353613111353613-
NC_000012.11:g.(?_111356888)_(111358333_?)del4633MYL2Uncertain significance-1RCV003111223; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356888111358333-
NM_000432.4(MYL2):c.93+15T>C4633MYL2Likely benign754871718RCV002098471; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356893111356893111356893-
NM_000432.4(MYL2):c.93+11C>G4633MYL2Uncertain significance1217072106RCV002050109; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356897111356897111356897-
NM_000432.4(MYL2):c.93+9A>G4633MYL2Likely benign201580029RCV002122353; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356899111356899111356899-
NM_000432.4(MYL2):c.93+4G>A4633MYL2Uncertain significance1452586267RCV002043613; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356904111356904111356904-
NM_000432.4(MYL2):c.93+1G>A4633MYL2Uncertain significance2071703627RCV001950506; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356907111356907111356907-
NM_000432.4(MYL2):c.92A>G (p.Glu31Gly)4633MYL2Uncertain significance2136777256RCV001901581; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356909111356909111356909-
NM_000432.4(MYL2):c.83A>G (p.Glu28Gly)4633MYL2Uncertain significance2071703750RCV001052552; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135691811135691812:g.111356918T>C-
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg)4633MYL2Conflicting interpretations of pathogenicity397516408RCV000036410|RCV000845333|RCV001852758; NHuman 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:6087581211135692111135692112:g.111356921T>CClinGen:CA010526C0949658 Primary familial hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.78C>T (p.Ile26=)4633MYL2Likely benign755926255RCV000774468|RCV002067298; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356923111356923NC_000012.11:g.111356923G>A-
NM_000432.4(MYL2):c.72C>G (p.Thr24=)4633MYL2Likely benign2136777292RCV001438252|RCV003160754; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111356929111356929111356929-
NM_000432.4(MYL2):c.71C>T (p.Thr24Ile)4633MYL2Uncertain significance2136777298RCV002021901; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356930111356930111356930-
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)4633MYL2Pathogenic/Likely pathogenic104894368RCV000015109|RCV000158914|RCV000234985|RCV000768488|RCV001170438|RCV002354163|RCV003421920; NMONDO: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:0001638,1211135693711135693712:g.111356937C>TClinGen:CA010513,Leiden Muscular Dystrophy (MYL2):MYL2_00003,UniProtKB:P10916#VAR_004603,OMIM:160781.0002C4022012 Death in early adulthood;
NM_000432.4(MYL2):c.63C>T (p.Phe21=)4633MYL2Likely benign779983470RCV000769371|RCV000920247|RCV003166031; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111356938111356938NC_000012.11:g.111356938G>A-
NM_000432.4(MYL2):c.51_61del (p.Phe18fs)4633MYL2Conflicting interpretations of pathogenicity754744244RCV001214509|RCV001780132; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN5172021211135694011135695012:g.111356940_111356950del-
NM_000432.4(MYL2):c.59T>A (p.Met20Lys)4633MYL2Uncertain significance113167834RCV000508032|RCV001321322; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356942111356942NC_000012.11:g.111356942A>TClinGen:CA043481CN169374 not specified;
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys)4633MYL2Uncertain significance2071704028RCV001185608|RCV001317123; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135694511135694512:g.111356945G>C-
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser)4633MYL2Conflicting interpretations of pathogenicity730880944RCV000158913|RCV000852440|RCV001850228|RCV002516393; NMedGen: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:C09501231211135694811135694812:g.111356948A>GClinGen:CA010495CN517202 not provided;
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)4633MYL2Pathogenic/Likely pathogenic104894370RCV000015112|RCV000246859|RCV002247340|RCV002504789; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135694911135694912:g.111356949A>GClinGen:CA010488,Leiden Muscular Dystrophy (MYL2):MYL2_00002,UniProtKB:P10916#VAR_004602,OMIM:160781.0005CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.50T>C (p.Val17Ala)4633MYL2Uncertain significance2136777356RCV001881856|RCV002478254|RCV003348575; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MONDO:MONDO:0859168,MedGen:C5561937,OMIM:619424; MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN23073612111356951111356951111356951-
NM_000432.4(MYL2):c.50del (p.Val17fs)4633MYL2Uncertain significance-1RCV002862305; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356951111356951NC_000012.11:g.111356951del-
NM_000432.4(MYL2):c.49G>A (p.Val17Met)4633MYL2Uncertain significance730880943RCV000158912|RCV000241994|RCV000470133|RCV001181615|RCV002484987; NMedGen: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,O1211135695211135695212:g.111356952C>TClinGen:CA010480CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.48C>T (p.Asn16=)4633MYL2Likely benign552004172RCV001446924|RCV001806183|RCV002341987; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN23073612111356953111356953111356953-
NM_000432.4(MYL2):c.47A>G (p.Asn16Ser)4633MYL2Uncertain significance2071704153RCV001316404|RCV001760386; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN51720212111356954111356954111356954-
NM_000432.4(MYL2):c.46A>G (p.Asn16Asp)4633MYL2Uncertain significance2136777385RCV001988420; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356955111356955111356955-
NM_000432.4(MYL2):c.42C>T (p.Asn14=)4633MYL2Likely benign878853980RCV001189726|RCV001455463|RCV002327108; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135695911135695912:g.111356959G>AClinGen:CA10582959C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.42C>A (p.Asn14Lys)4633MYL2Uncertain significance878853980RCV000639674; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356959111356959NC_000012.11:g.111356959G>TClinGen:CA386700300C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.41A>C (p.Asn14Thr)4633MYL2Uncertain significance2071704259RCV001109260; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135696011135696012:g.111356960T>G-
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)4633MYL2Conflicting interpretations of pathogenicity104894363RCV000015108|RCV000036401|RCV000148714|RCV000584799|RCV000620870|RCV000626337|RCV000766474|RCV000778905|RCV001184984; NMONDO: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:01211135696411135696412:g.111356964C>TClinGen:CA010242,Leiden Muscular Dystrophy (MYL2):MYL2_00001,UniProtKB:P10916#VAR_004601,OMIM:160781.0001CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.36C>T (p.Gly12=)4633MYL2Benign/Likely benign139794370RCV000036399|RCV000457321|RCV000622196|RCV001178576|RCV001719731; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C36619001211135696511135696512:g.111356965G>AClinGen:CA010220CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.35G>A (p.Gly12Asp)4633MYL2Uncertain significance762584624RCV002048578; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356966111356966111356966-
NM_000432.4(MYL2):c.34G>T (p.Gly12Cys)4633MYL2Uncertain significance730880937RCV000774463|RCV001208534; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356967111356967NC_000012.11:g.111356967C>A-
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser)4633MYL2Uncertain significance730880937RCV001192326|RCV001859164; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135696711135696712:g.111356967C>T-
NM_000432.4(MYL2):c.33G>A (p.Gly11=)4633MYL2Benign/Likely benign199742269RCV000036394|RCV000457856|RCV000771886|RCV002453303; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN2307361211135696811135696812:g.111356968C>TClinGen:CA010120C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.30C>T (p.Ala10=)4633MYL2Likely benign752641375RCV000862280|RCV001452370; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135697111135697112:g.111356971G>A-
NM_000432.4(MYL2):c.30C>A (p.Ala10=)4633MYL2Likely benign752641375RCV002084783; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356971111356971111356971-
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr)4633MYL2Uncertain significance730880942RCV000158910|RCV000794360|RCV001185249; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678481211135697311135697312:g.111356973C>TClinGen:CA010053CN169374 not specified;
NM_000432.4(MYL2):c.28G>C (p.Ala10Pro)4633MYL2Uncertain significance730880942RCV001969620; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356973111356973111356973-
NM_000432.4(MYL2):c.26G>A (p.Arg9Lys)4633MYL2Uncertain significance2071704532RCV001878291; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356975111356975111356975-
NM_000432.4(MYL2):c.18A>G (p.Ala6=)4633MYL2Likely benign-1RCV003167580|RCV002675605; NMedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356983111356983-
NM_000432.4(MYL2):c.14A>G (p.Lys5Arg)4633MYL2Uncertain significance730880941RCV000158909|RCV000816711; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135698711135698712:g.111356987T>CClinGen:CA009892CN169374 not specified;
NM_000432.4(MYL2):c.6del (p.Pro3fs)4633MYL2Uncertain significance1085307533RCV000490156|RCV000798438; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111356995111356995NC_000012.11:g.111356995delClinGen:CA645293885CN169374 not specified;
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr)4633MYL2Uncertain significance1060499882RCV000455015|RCV000618317|RCV000692892; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135699711135699712:g.111356997C>TClinGen:CA16609759CN230736 Cardiovascular phenotype;
NM_000432.4(MYL2):c.4G>T (p.Ala2Ser)4633MYL2Conflicting interpretations of pathogenicity1060499882RCV001191495|RCV001363795; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135699711135699712:g.111356997C>A-
NM_000432.4(MYL2):c.4-5C>T4633MYL2Likely benign374870836RCV001411676; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357002111357002NC_000012.11:g.111357002G>AClinGen:CA16613729C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.4-5C>G4633MYL2Conflicting interpretations of pathogenicity374870836RCV001525538|RCV002568098; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357002111357002111357002-
NM_000432.4(MYL2):c.4-6_4-5delinsTT4633MYL2Likely benign2136777520RCV002195394; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357002111357003111357002-
NM_000432.4(MYL2):c.4-8T>C4633MYL2Likely benign750730703RCV001176617|RCV001391699; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357005111357005NC_000012.11:g.111357005A>GClinGen:CA043408C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.4-8del4633MYL2Benign-1RCV003067402; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357005111357005NC_000012.11:g.111357010del-
NM_000432.4(MYL2):c.4-9T>C4633MYL2Likely benign-1RCV002607062; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357006111357006NC_000012.11:g.111357006A>G-
NM_000432.4(MYL2):c.4-14C>T4633MYL2Benign12301951RCV000036403|RCV000625191|RCV000771118|RCV001642556|RCV003125848; NMedGen: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:01211135701111135701112:g.111357011G>AClinGen:CA010310C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.4-14del4633MYL2Benign531661702RCV000155660|RCV000158898|RCV001803091; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135701111135701112:g.111357011_111357011delClinGen:CA010318C0878544 Cardiomyopathy;
NM_000432.4(MYL2):c.4-18G>A4633MYL2Benign/Likely benign730880933RCV000158894|RCV002053908; NMedGen:CN169374|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135701511135701512:g.111357015C>TClinGen:CA010327CN169374 not specified;
NM_000432.4(MYL2):c.4-19C>T4633MYL2Likely benign1566150502RCV002155431; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111357016111357016111357016-
NM_000432.4(MYL2):c.3+20G>A4633MYL2Likely benign-1RCV002623637; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111358311111358311NC_000012.11:g.111358311C>T-
NM_000432.4(MYL2):c.3+14C>T4633MYL2Likely benign-1RCV002596285; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111358317111358317NC_000012.11:g.111358317G>A-
NM_000432.4(MYL2):c.3+13G>T4633MYL2Uncertain significance2136779321RCV001894047; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111358318111358318111358318-
NM_000432.4(MYL2):c.3+9A>G4633MYL2Conflicting interpretations of pathogenicity201763406RCV000313911|RCV000461436; NHuman Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135832211135832212:g.111358322T>CClinGen:CA042433C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.3+2T>C4633MYL2Conflicting interpretations of pathogenicity111373423RCV000988909|RCV003458579; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|1211135832911135832912:g.111358329A>G-
NM_000432.4(MYL2):c.3+1G>T4633MYL2Conflicting interpretations of pathogenicity730880948RCV000158921|RCV001342762|RCV003352787; NMedGen:CN517202|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:608758|MedGen:CN2307361211135833011135833012:g.111358330C>AClinGen:CA010102CN517202 not provided;
NM_000432.4(MYL2):c.3G>A (p.Met1Ile)4633MYL2Conflicting interpretations of pathogenicity1555258369RCV000513098|RCV000639673; NMONDO:MONDO:0019150,MedGen:C5680139, Orphanet:75249|MONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135833111135833112:g.111358331C>TClinGen:CA386700390C1834460 608758 Familial hypertrophic cardiomyopathy 10;
NM_000432.4(MYL2):c.-12G>C4633MYL2Uncertain significance886048962RCV000363947; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135834511135834512:g.111358345C>GClinGen:CA10632046C0007194 Hypertrophic cardiomyopathy;
NM_000432.4(MYL2):c.-28C>T4633MYL2Likely benign377590769RCV000396666; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135836111135836112:g.111358361G>AClinGen:CA041414C0007194 Hypertrophic cardiomyopathy;
NM_000432.3(MYL2):c.-62C>A4633MYL2Uncertain significance1251308670RCV001111588; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:6087581211135839511135839512:g.111358395G>T-
NM_001406916.1(MYL2):c.-55+788T>C4633MYL2Uncertain significance941432618RCV001111589; NMONDO:MONDO:0012112,MedGen:C1834460,OMIM:60875812111358405111358405-
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