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:8451
Name:Myofibrillar Myopathy
Definition:
Alternative IDs:OMIM:601419|OMIM:609452|OMIM:612954|OMIM:617114|OMIM:617258
ParentIDs:MESH:D020914
TreeNumbers:C05.651.575/C580316 |C10.668.491.550/C580316
Synonyms:ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY |ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY |ARVC7, FORMERLY |ARVD7, FORMERLY |CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY |CARDIOMYOPATHY,
Slim Mappings:Musculoskeletal disease|Nervous system disease
Reference: MedGen: C580316
MeSH: C580316
OMIM: 601419;
MSeqDR LSDB:  
Genes: BAG3; DES; LDB3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003694Late-onset proximal muscle weakness
4 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
5 HP:0001283Bulbar palsy
6 HP:0002019Constipation
7 HP:0002014Diarrhea
8 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
9 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
10 HP:0003458EMG: myopathic abnormalities
11 HP:0010628Facial palsy
12 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
13 HP:0002600Hyporeflexia of lower limbs
14 HP:0000467Neck muscle weakness
15 HP:0003812Phenotypic variability
16 HP:0002747Respiratory insufficiency due to muscle weakness
17 HP:0005130Restrictive heart failure
18 HP:0011663Right ventricular cardiomyopathyHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000002.11:g.(?_219135239)_(220290732_?)del1674DESPathogenic-1RCV000707774; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432219135239220290732nana-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.-74C>T1674DESUncertain significancers886055653RCV000297648|RCV000319844|RCV000354916|RCV000262437; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220283111220283111CT2:g.220283111C>TClinGen:CA10612860CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.-54C>T1674DESUncertain significancers1954355610RCV001142066|RCV001137306|RCV001142067; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220283131220283131CT2:g.220283131C>T-
NM_001927.4(DES):c.-44G>A1674DESBenign/Likely benignrs184826121RCV000183342|RCV000275289|RCV000333461|RCV000386055|RCV000381089; NMedGen:CN169374|MedGen:CN239446|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283141220283141GA2:g.220283141G>AClinGen:CA308252CN239310 Dilated Cardiomyopathy, Dominant;
NC_000002.12:g.(?_219418453)_(219426000_?)del1674DESPathogenic-1RCV001032226; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283175220290722nana-1-
NM_001927.4(DES):c.-6G>A1674DESUncertain significancers774967446RCV000283203|RCV000289026|RCV000327635|RCV000384609|RCV001293589; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MedGen:CN239446|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN1693742220283179220283179GA2:g.220283179G>AClinGen:CA2125001CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.1A>G (p.Met1Val)1674DESLikely pathogenicrs1057523274RCV000417495|RCV000502195|RCV001217218; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283185220283185AGNC_000002.11:g.220283185A>GClinGen:CA16604392C1832370 601419 Myofibrillar myopathy 1;
NC_000002.11:g.(?_220283185)_(220357508_?)dup1674DESUncertain significance-1RCV001877603; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283185220357508nana-1-
NM_001927.4(DES):c.2T>C (p.Met1Thr)1674DESLikely pathogenic-1RCV001377481; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283186220283186TC220283186-
NM_001927.4(DES):c.5G>T (p.Ser2Ile)1674DESUncertain significancers58999456RCV000056804|RCV000794180; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283189220283189GTNC_000002.11:g.220283189G>TClinGen:CA217078,UniProtKB:P17661#VAR_042448CN517202 not provided;
NM_001927.4(DES):c.7C>T (p.Gln3Ter)1674DESPathogenicrs1954358233RCV001037267; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283191220283191CT2:g.220283191C>T-
NM_001927.4(DES):c.8A>G (p.Gln3Arg)1674DESUncertain significancers1954358286RCV001325781; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283192220283192AG220283192-
NM_001927.4(DES):c.10G>A (p.Ala4Thr)1674DESUncertain significance-1RCV001363051; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283194220283194GA220283194-
NM_001927.4(DES):c.12C>A (p.Ala4=)1674DESLikely benignrs762566962RCV000467673|RCV000617744|RCV001721540; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN230736|MedGen:CN5172022220283196220283196CANC_000002.11:g.220283196C>AClinGen:CA2125002CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.12C>G (p.Ala4=)1674DESLikely benign-1RCV001419585; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283196220283196CG220283196-
NM_001927.4(DES):c.17C>T (p.Ser6Leu)1674DESUncertain significancers1214936508RCV000693314; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283201220283201CTNC_000002.11:g.220283201C>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.17C>G (p.Ser6Trp)1674DESUncertain significance-1RCV001962629; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283201220283201CG220283201-
NM_001927.4(DES):c.18G>A (p.Ser6=)1674DESConflicting interpretations of pathogenicityrs199972656RCV000037235|RCV000286817|RCV000334781|RCV000340575|RCV000405735|RCV000724222|RCV000769153|RCV001081339; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN239446|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MedGen:CN517202|Human Phenotype On2220283202220283202GA2:g.220283202G>AClinGen:CA133835CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.28C>A (p.Arg10Ser)1674DESUncertain significancers1196125127RCV000651547; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283212220283212CA2:g.220283212C>AClinGen:CA350682178C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.28C>T (p.Arg10Cys)1674DESUncertain significance-1RCV001823813|RCV001869824; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283212220283212CT220283212-
NM_001927.4(DES):c.29G>A (p.Arg10His)1674DESUncertain significance-1RCV001863643; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283213220283213GA220283213-
NM_001927.4(DES):c.30C>T (p.Arg10=)1674DESUncertain significance-1RCV001965264; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283214220283214CT220283214-
NM_001927.4(DES):c.37T>C (p.Ser13Pro)1674DESUncertain significancers1954359599RCV001299265; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283221220283221TC220283221-
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)1674DESUncertain significancers62636495RCV000651549|RCV000730717; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283222220283222CA2:g.220283222C>AClinGen:CA350682283C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.40T>C (p.Tyr14His)1674DESUncertain significance-1RCV001933052; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283224220283224TC220283224-
NM_001927.4(DES):c.43C>A (p.Arg15Ser)1674DESUncertain significance-1RCV001903577; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283227220283227CA220283227-
NM_001927.4(DES):c.43C>T (p.Arg15Cys)1674DESUncertain significance-1RCV001965707; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283227220283227CT220283227-
NM_001927.4(DES):c.45C>T (p.Arg15=)1674DESLikely benignrs1575012917RCV000981307; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283229220283229CT2:g.220283229C>T-
NM_001927.4(DES):c.46C>A (p.Arg16Ser)1674DESUncertain significance-1RCV001867087; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283230220283230CA220283230-
NM_001927.4(DES):c.49A>T (p.Thr17Ser)1674DESUncertain significance-1RCV001997968; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283233220283233AT220283233-
NM_001927.4(DES):c.50C>A (p.Thr17Asn)1674DESUncertain significancers1954360300RCV001339441; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283234220283234CA220283234-
NM_001927.4(DES):c.54C>T (p.Phe18=)1674DESLikely benign-1RCV002093434; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283238220283238CT220283238-
NM_001927.4(DES):c.55G>C (p.Gly19Arg)1674DESUncertain significancers936853024RCV000595015|RCV000697037; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283239220283239GC2:g.220283239G>CClinGen:CA65980591C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.58G>A (p.Gly20Arg)1674DESUncertain significancers759306707RCV000461350; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283242220283242GANC_000002.11:g.220283242G>AClinGen:CA16610716C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.59G>A (p.Gly20Glu)1674DESUncertain significance-1RCV001937089; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283243220283243GA220283243-
NM_001927.4(DES):c.60G>A (p.Gly20=)1674DESLikely benign-1RCV001434324; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283244220283244GA220283244-
NM_001927.4(DES):c.62C>A (p.Ala21Asp)1674DESUncertain significancers755107287RCV001057700; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283246220283246CA2:g.220283246C>A-
NM_001927.4(DES):c.63C>T (p.Ala21=)1674DESConflicting interpretations of pathogenicityrs201458068RCV000726631|RCV001086977; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283247220283247CT2:g.220283247C>TClinGen:CA2125011CN169374 not specified;
NM_001927.4(DES):c.65C>G (p.Pro22Arg)1674DESUncertain significancers748158450RCV000818028; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283249220283249CG2:g.220283249C>G-
NM_001927.4(DES):c.66G>A (p.Pro22=)1674DESUncertain significancers767502653RCV001065113|RCV001701283; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283250220283250GA2:g.220283250G>A-
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)1674DESUncertain significance-1RCV001370041; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283255220283256TTCCCGCTCGGCTC220283255-
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)1674DESUncertain significance-1RCV001924330; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283258220283259CATG220283258-
NM_001927.4(DES):c.75A>G (p.Pro25=)1674DESBenignrs1318299RCV000029660|RCV000037251|RCV000250669|RCV000299687|RCV000356753|RCV000395699|RCV000395883|RCV000710119|RCV001509595; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:M2220283259220283259AG2:g.220283259A>GClinGen:CA282355C0878544 Cardiomyopathy;
NM_001927.4(DES):c.75A>T (p.Pro25=)1674DESLikely benign-1RCV001443270; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283259220283259AT220283259-
NM_001927.4(DES):c.78C>G (p.Leu26=)1674DESLikely benignrs1252527107RCV000929712|RCV002066087; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283262220283262CG2:g.220283262C>G-
NM_001927.4(DES):c.79G>A (p.Gly27Ser)1674DESUncertain significancers727504877RCV000156244|RCV000700537|RCV000766816; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283263220283263GA2:g.220283263G>AClinGen:CA184448C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.79G>C (p.Gly27Arg)1674DESUncertain significance-1RCV001911879; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283263220283263GC220283263-
NM_001927.4(DES):c.80G>A (p.Gly27Asp)1674DESUncertain significancers1575012966RCV000799121; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283264220283264GA2:g.220283264G>A-
NM_001927.4(DES):c.86C>T (p.Pro29Leu)1674DESUncertain significancers1378987625RCV001056471; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283270220283270CT2:g.220283270C>T-
NM_001927.4(DES):c.87G>T (p.Pro29=)1674DESLikely benign-1RCV002168690; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283271220283271GT220283271-
NM_001927.4(DES):c.93T>C (p.Ser31=)1674DESBenignrs2017800RCV000029661|RCV000037256|RCV000242424|RCV000312502|RCV000277612|RCV000325693|RCV000369464|RCV000710120|RCV001509596; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN239446|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet2220283277220283277TC2:g.220283277T>CClinGen:CA282356C0878544 Cardiomyopathy;
NM_001927.4(DES):c.93T>G (p.Ser31Arg)1674DESUncertain significancers2017800RCV000706663|RCV001567889; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283277220283277TGNC_000002.11:g.220283277T>G-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.99C>T (p.Pro33=)1674DESBenign/Likely benignrs774006810RCV000218133|RCV000477613|RCV001080097; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283283220283283CT2:g.220283283C>TClinGen:CA2125018C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.104T>C (p.Phe35Ser)1674DESUncertain significancers1575012999RCV000809941; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283288220283288TC2:g.220283288T>C-
NM_001927.4(DES):c.105C>G (p.Phe35Leu)1674DESUncertain significance-1RCV001896521; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283289220283289CG220283289-
NM_001927.4(DES):c.109C>T (p.Arg37Trp)1674DESUncertain significancers537881554RCV000250161|RCV000594311|RCV001217854; NMedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283293220283293CT2:g.220283293C>TClinGen:CA2125022CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.109C>G (p.Arg37Gly)1674DESUncertain significancers537881554RCV000481772|RCV001203491; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283293220283293CG2:g.220283293C>GClinGen:CA2125023CN169374 not specified;
NM_001927.4(DES):c.110G>T (p.Arg37Leu)1674DESUncertain significancers1954363342RCV001241290; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283294220283294GT2:g.220283294G>T-
NM_001927.4(DES):c.112del (p.Ala38fs)1674DESPathogenic-1RCV002037926; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283294220283294CGC220283293-
NM_001927.4(DES):c.114G>A (p.Ala38=)1674DESBenignrs368901105RCV000037226|RCV000464462|RCV001171065|RCV001705670; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN5172022220283298220283298GA2:g.220283298G>AClinGen:CA233898C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.114G>T (p.Ala38=)1674DESLikely benignrs368901105RCV000037227|RCV000869830; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283298220283298GT2:g.220283298G>TClinGen:CA133814CN169374 not specified;
NM_001927.4(DES):c.115G>A (p.Gly39Ser)1674DESUncertain significance-1RCV001360576; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283299220283299GA220283299-
NM_001927.4(DES):c.123C>T (p.Gly41=)1674DESLikely benign-1RCV002119968; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283307220283307CT220283307-
NM_001927.4(DES):c.131G>T (p.Gly44Val)1674DESUncertain significancers1954364360RCV001229880; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283315220283315GT2:g.220283315G>T-
NM_001927.4(DES):c.140G>T (p.Ser47Ile)1674DESUncertain significance-1RCV002028294; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283324220283324GT220283324-
NM_001927.4(DES):c.150G>T (p.Thr50=)1674DESLikely benignrs1179760415RCV000828053|RCV001078630; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283334220283334GT2:g.220283334G>T-
NM_001927.4(DES):c.154C>A (p.Arg52Ser)1674DESUncertain significancers794728990RCV000183359|RCV000233855|RCV000251066|RCV000766841; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN230736|MedGen:CN5172022220283338220283338CA2:g.220283338C>AClinGen:CA308290CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.155G>A (p.Arg52His)1674DESUncertain significance-1RCV001974775; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283339220283339GA220283339-
NM_001927.4(DES):c.155G>C (p.Arg52Pro)1674DESUncertain significance-1RCV001983810; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283339220283339GC220283339-
NM_001927.4(DES):c.157G>A (p.Val53Met)1674DESUncertain significancers1393972560RCV001236636; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283341220283341GA2:g.220283341G>A-
NM_001927.4(DES):c.157G>T (p.Val53Leu)1674DESUncertain significance-1RCV001920816; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283341220283341GT220283341-
NM_001927.4(DES):c.166G>C (p.Val56Leu)1674DESUncertain significancers578066781RCV000183360|RCV000467504|RCV000617378|RCV000766842; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN230736|MedGen:CN5172022220283350220283350GC2:g.220283350G>CClinGen:CA308293CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.167T>A (p.Val56Glu)1674DESUncertain significancers1170549656RCV000594634|RCV001242921|RCV001584405; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN1693742220283351220283351TA2:g.220283351T>AClinGen:CA350683551CN169374 not specified;
NM_001927.4(DES):c.170C>T (p.Ser57Leu)1674DESConflicting interpretations of pathogenicityrs372825868RCV000037234|RCV000547047|RCV000586931|RCV000621896|RCV001137420|RCV001142159|RCV001142158; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:2220283354220283354CT2:g.220283354C>TClinGen:CA133832CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.176C>T (p.Thr59Met)1674DESUncertain significancers773826073RCV001342935; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283360220283360CT220283360-
NM_001927.4(DES):c.182G>A (p.Gly61Asp)1674DESUncertain significancers1447436485RCV001305497; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283366220283366GA220283366-
NM_001927.4(DES):c.184G>A (p.Gly62Arg)1674DESUncertain significancers886044090RCV000686290|RCV000726280; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283368220283368GA2:g.220283368G>AClinGen:CA10606335C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.186G>T (p.Gly62=)1674DESUncertain significancers1276880158RCV001057707; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283370220283370GT2:g.220283370G>T-
NM_001927.4(DES):c.188C>A (p.Ala63Asp)1674DESUncertain significancers1345937895RCV001052801; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283372220283372CA2:g.220283372C>A-
NM_001927.4(DES):c.194dup (p.Leu66fs)1674DESPathogenic-1RCV001388769; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283373220283374CCG220283373-
NM_001927.4(DES):c.193G>A (p.Gly65Ser)1674DESConflicting interpretations of pathogenicityrs397516692RCV000037236|RCV000515205|RCV000724220|RCV000805979|RCV001137423|RCV001137422|RCV001137421; NMedGen:CN169374|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363542220283377220283377GANC_000002.11:g.220283377G>AClinGen:CA133838C1865925 602067 Dilated cardiomyopathy 1F;
NM_001927.4(DES):c.195C>T (p.Gly65=)1674DESLikely benignrs1256584430RCV000976555|RCV001529371; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283379220283379CT2:g.220283379C>T-
NM_001927.4(DES):c.196C>A (p.Leu66Met)1674DESUncertain significancers1320380570RCV000651540; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283380220283380CA2:g.220283380C>AClinGen:CA350683798C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.199G>A (p.Gly67Arg)1674DESUncertain significance-1RCV002003604; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283383220283383GA220283383-
NM_001927.4(DES):c.205C>T (p.Leu69=)1674DESLikely benign-1RCV002192561; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283389220283389CT220283389-
NM_001927.4(DES):c.208C>T (p.Arg70Trp)1674DESUncertain significance-1RCV001359980; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283392220283392CT220283392-
NM_001927.4(DES):c.209G>C (p.Arg70Pro)1674DESUncertain significancers933438188RCV000466056|RCV001839000; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283393220283393GCNC_000002.11:g.220283393G>CClinGen:CA16610610C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.210G>C (p.Arg70=)1674DESConflicting interpretations of pathogenicityrs761255472RCV000302897|RCV000725053|RCV002059102; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283394220283394GC2:g.220283394G>CClinGen:CA10604110CN169374 not specified;
NM_001927.4(DES):c.210G>A (p.Arg70=)1674DESLikely benignrs761255472RCV000473296|RCV001490896; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283394220283394GANC_000002.11:g.220283394G>AClinGen:CA16610717C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.212C>T (p.Ala71Val)1674DESUncertain significancers759235186RCV000208029|RCV001297826; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283396220283396CT2:g.220283396C>TClinGen:CA068076C0878544 Cardiomyopathy;
NM_001927.4(DES):c.216C>A (p.Ser72Arg)1674DESConflicting interpretations of pathogenicityrs375719734RCV000463940|RCV000710118|RCV000765610|RCV001330866|RCV001706118|RCV001798625; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN517202|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:152220283400220283400CA2:g.220283400C>AClinGen:CA238726C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.217C>A (p.Arg73=)1674DESLikely benign-1RCV001453191; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283401220283401CA220283401-
NM_001927.4(DES):c.218G>T (p.Arg73Leu)1674DESUncertain significancers752518966RCV000231650; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283402220283402GT2:g.220283402G>TClinGen:CA10581946C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.218G>A (p.Arg73Gln)1674DESConflicting interpretations of pathogenicityrs752518966RCV000592338|RCV000707403; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283402220283402GA2:g.220283402G>AClinGen:CA2125038C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.221T>A (p.Leu74Gln)1674DESUncertain significancers1164195329RCV001339002; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283405220283405TA220283405-
NM_001927.4(DES):c.225G>A (p.Gly75=)1674DESLikely benign-1RCV001434418|RCV001724320|RCV001700748; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MedGen:CN1693742220283409220283409GA220283409-
NM_001927.4(DES):c.226del (p.Thr76fs)1674DESPathogenicrs1399282762RCV000797371|RCV001784414; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220283410220283410GAG2:g.220283410_220283410del-
NM_001927.4(DES):c.228C>G (p.Thr76=)1674DESLikely benign-1RCV002138545; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283412220283412CG220283412-
NM_001927.4(DES):c.229A>G (p.Thr77Ala)1674DESUncertain significancers769034192RCV000591625|RCV001046462; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283413220283413AG2:g.220283413A>GClinGen:CA2125045CN169374 not specified;
NM_001927.4(DES):c.230C>T (p.Thr77Ile)1674DESUncertain significance-1RCV001979814; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283414220283414CT220283414-
NM_001927.4(DES):c.233G>T (p.Arg78Leu)1674DESUncertain significancers573916832RCV000824328; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283417220283417GT2:g.220283417G>T-
NM_001927.4(DES):c.237G>A (p.Thr79=)1674DESConflicting interpretations of pathogenicityrs727503899RCV000153149|RCV002056029; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283421220283421GA2:g.220283421G>AClinGen:CA233899CN169374 not specified;
NM_001927.4(DES):c.243C>T (p.Ser81=)1674DESBenign/Likely benignrs201594392RCV000156075|RCV000471679|RCV000620327|RCV001697118; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN230736|MedGen:CN5172022220283427220283427CT2:g.220283427C>TClinGen:CA184122CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.245C>T (p.Ser82Phe)1674DESUncertain significance-1RCV001995255; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283429220283429CT220283429-
NM_001927.4(DES):c.247T>C (p.Tyr83His)1674DESUncertain significancers1954368990RCV001137424|RCV001137425|RCV001137426; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220283431220283431TC2:g.220283431T>C-
NM_001927.4(DES):c.249C>T (p.Tyr83=)1674DESLikely benign-1RCV002205930; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283433220283433CT220283433-
NM_001927.4(DES):c.250G>A (p.Gly84Ser)1674DESConflicting interpretations of pathogenicityrs200545412RCV000150379|RCV000474215|RCV000724983; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283434220283434GA2:g.220283434G>AClinGen:CA175620C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.254_255insT (p.Gly86fs)1674DESPathogenicrs1273708097RCV001038112; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283438220283439CCT2:g.220283438_220283439insT-
NM_001927.4(DES):c.258C>G (p.Gly86=)1674DESLikely benignrs994454109RCV000426689|RCV001442251; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283442220283442CG2:g.220283442C>GClinGen:CA16604126CN169374 not specified;
NM_001927.4(DES):c.258C>T (p.Gly86=)1674DESUncertain significance-1RCV001366089; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283442220283442CT220283442-
NM_001927.4(DES):c.258C>A (p.Gly86=)1674DESLikely benign-1RCV002110421; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283442220283442CA220283442-
NM_001927.4(DES):c.261G>A (p.Glu87=)1674DESLikely benign-1RCV002082643; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283445220283445GA220283445-
NM_001927.4(DES):c.268G>C (p.Asp90His)1674DESUncertain significancers1267102255RCV000559463; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283452220283452GCNC_000002.11:g.220283452G>CClinGen:CA350684687C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.269A>T (p.Asp90Val)1674DESUncertain significancers1954369708RCV001342159; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283453220283453AT220283453-
NM_001927.4(DES):c.269A>C (p.Asp90Ala)1674DESUncertain significance-1RCV002028717; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283453220283453AC220283453-
NM_001927.4(DES):c.273C>T (p.Phe91=)1674DESLikely benign-1RCV002154196; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283457220283457CT220283457-
NM_001927.4(DES):c.275C>T (p.Ser92Leu)1674DESUncertain significancers1954369865RCV001065410; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283459220283459CT2:g.220283459C>T-
NM_001927.4(DES):c.280G>A (p.Ala94Thr)1674DESUncertain significancers1163703259RCV001321498; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283464220283464GA220283464-
NM_001927.4(DES):c.282C>G (p.Ala94=)1674DESLikely benignrs397516693RCV000037237|RCV002054649; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283466220283466CG2:g.220283466C>GClinGen:CA133841CN169374 not specified;
NM_001927.4(DES):c.284A>T (p.Asp95Val)1674DESUncertain significancers1954370194RCV001312754; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283468220283468AT220283468-
NM_001927.4(DES):c.285C>T (p.Asp95=)1674DESLikely benign-1RCV001484452; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283469220283469CT220283469-
NM_001927.4(DES):c.286G>T (p.Ala96Ser)1674DESUncertain significancers201190593RCV000253402|RCV000991884|RCV001211572; NMedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283470220283470GT2:g.220283470G>TClinGen:CA10587549CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.291G>A (p.Val97=)1674DESLikely benign-1RCV001400541; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283475220283475GA220283475-
NM_001927.4(DES):c.295C>G (p.Gln99Glu)1674DESConflicting interpretations of pathogenicityrs794728992RCV000183367|RCV000691921; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283479220283479CGNC_000002.11:g.220283479C>GClinGen:CA308304C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.298G>A (p.Glu100Lys)1674DESUncertain significancers1434605523RCV001037011; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283482220283482GA2:g.220283482G>A-
NM_001927.4(DES):c.299A>C (p.Glu100Ala)1674DESUncertain significancers762738069RCV000183368|RCV001852351; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283483220283483AC2:g.220283483A>CClinGen:CA308307CN169374 not specified;
NM_001927.4(DES):c.300G>A (p.Glu100=)1674DESLikely benign-1RCV002101449; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283484220283484GA220283484-
NM_001927.4(DES):c.306G>A (p.Leu102=)1674DESLikely benign-1RCV001413690; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283490220283490GA220283490-
NM_001927.4(DES):c.309del (p.Thr104fs)1674DESPathogenic-1RCV001386331; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283492220283492ACA220283491-
NM_001927.4(DES):c.310A>G (p.Thr104Ala)1674DESUncertain significancers1559352310RCV000693246; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283494220283494AGNC_000002.11:g.220283494A>G-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.311C>T (p.Thr104Met)1674DESUncertain significancers980849177RCV001062011; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283495220283495CT2:g.220283495C>T-
NM_001927.4(DES):c.311C>G (p.Thr104Arg)1674DESUncertain significance-1RCV001903562; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283495220283495CG220283495-
NM_001927.4(DES):c.313C>T (p.Arg105Cys)1674DESUncertain significancers794728993RCV001211522; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283497220283497CT2:g.220283497C>T-
NM_001927.4(DES):c.314G>T (p.Arg105Leu)1674DESUncertain significancers1406795636RCV001349290; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283498220283498GT220283498-
NM_001927.4(DES):c.319A>G (p.Asn107Asp)1674DESUncertain significance-1RCV001966682; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283503220283503AG220283503-
NM_001927.4(DES):c.320A>C (p.Asn107Thr)1674DESUncertain significancers1156440628RCV001222980; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283504220283504AC2:g.220283504A>C-
NM_001927.4(DES):c.322G>A (p.Glu108Lys)1674DESUncertain significancers62636490RCV000056796|RCV001232668; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283506220283506GA2:g.220283506G>AClinGen:CA217060CN517202 not provided;
NM_001927.4(DES):c.322G>T (p.Glu108Ter)1674DESPathogenicrs62636490RCV000991885|RCV001047253; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283506220283506GT2:g.220283506G>T-
NM_001927.4(DES):c.323A>G (p.Glu108Gly)1674DESUncertain significancers1954371679RCV001307562; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283507220283507AG220283507-
NM_001927.4(DES):c.324G>A (p.Glu108=)1674DESBenign/Likely benignrs138677215RCV000154551|RCV000226557|RCV000250330|RCV001529031; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN230736|MedGen:CN5172022220283508220283508GA2:g.220283508G>AClinGen:CA180958CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.325A>G (p.Lys109Glu)1674DESUncertain significancers1954371825RCV001317605; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283509220283509AG220283509-
NM_001927.4(DES):c.326A>G (p.Lys109Arg)1674DESUncertain significancers1488426454RCV001216735; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283510220283510AG2:g.220283510A>G-
NM_001927.4(DES):c.328G>C (p.Val110Leu)1674DESUncertain significancers373081285RCV000484348|RCV001240419; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283512220283512GC2:g.220283512G>CClinGen:CA2125052CN169374 not specified;
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)1674DESPathogenicrs1553603239RCV000661904|RCV001784226; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220283514220283522TGGAGCTGCAT2:g.220283514_220283522del-C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.335T>G (p.Leu112Arg)1674DESUncertain significancers1954372144RCV001071084; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283519220283519TG2:g.220283519T>G-
NM_001927.4(DES):c.341A>G (p.Glu114Gly)1674DESUncertain significance-1RCV002049499; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283525220283525AG220283525-
NM_001927.4(DES):c.344T>C (p.Leu115Pro)1674DESUncertain significance-1RCV002009169; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283528220283528TC220283528-
NM_001927.4(DES):c.347A>G (p.Asn116Ser)1674DESPathogenic/Likely pathogenicrs267607499RCV000056799|RCV000150380|RCV001384253; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283531220283531AG2:g.220283531A>GClinGen:CA217067,UniProtKB:P17661#VAR_069191C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.347A>T (p.Asn116Ile)1674DESUncertain significancers267607499RCV000217696|RCV000651544; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283531220283531ATNC_000002.11:g.220283531A>TClinGen:CA10576588C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.348T>C (p.Asn116=)1674DESLikely benign-1RCV001485665; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283532220283532TC220283532-
NM_001927.4(DES):c.349G>C (p.Asp117His)1674DESUncertain significancers1954372615RCV001321596; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283533220283533GC220283533-
NM_001927.4(DES):c.352C>A (p.Arg118Ser)1674DESUncertain significancers1188232371RCV000535526; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283536220283536CANC_000002.11:g.220283536C>AClinGen:CA350685460C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.357C>T (p.Phe119=)1674DESLikely benign-1RCV001415636; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283541220283541CT220283541-
NM_001927.4(DES):c.358G>C (p.Ala120Pro)1674DESConflicting interpretations of pathogenicityrs794728996RCV000183377|RCV001852352; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283542220283542GC2:g.220283542G>CClinGen:CA308328CN517202 not provided;
NM_001927.4(DES):c.359C>A (p.Ala120Asp)1674DESUncertain significancers1954373010RCV001059305|RCV001784615; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283543220283543CA2:g.220283543C>A-
NM_001927.4(DES):c.360C>T (p.Ala120=)1674DESLikely benignrs1553603246RCV000651557; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283544220283544CTNC_000002.11:g.220283544C>TClinGen:CA431427557C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.361A>C (p.Asn121His)1674DESUncertain significance-1RCV001363530; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283545220283545AC220283545-
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)1674DESConflicting interpretations of pathogenicityrs1400593451RCV000757150|RCV001171066|RCV000852535|RCV001855888; NMedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137,O2220283549220283549AGNC_000002.11:g.220283549A>G-
NM_001927.4(DES):c.367A>G (p.Ile123Val)1674DESUncertain significancers376048590RCV001228319; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283551220283551AG2:g.220283551A>G-
NM_001927.4(DES):c.369del (p.Ile123fs)1674DESConflicting interpretations of pathogenicityrs747289875RCV000221238|RCV001853441; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283553220283553TCTNC_000002.11:g.220283553delClinGen:CA2125058CN169374 not specified;
NM_001927.4(DES):c.371A>C (p.Glu124Ala)1674DESUncertain significancers564121737RCV000822267; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283555220283555AC2:g.220283555A>C-
NM_001927.4(DES):c.371A>G (p.Glu124Gly)1674DESUncertain significancers564121737RCV001220938; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283555220283555AG2:g.220283555A>G-
NM_001927.4(DES):c.372G>A (p.Glu124=)1674DESBenign/Likely benignrs34365369RCV000037238|RCV000252338|RCV000271597|RCV000329285|RCV000364043|RCV000376849|RCV000472667|RCV000711439; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MONDO:MONDO:0011072220283556220283556GA2:g.220283556G>AClinGen:CA133844CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.373A>T (p.Lys125Ter)1674DESPathogenicrs886043000RCV000261318|RCV000700283; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283557220283557AT2:g.220283557A>TClinGen:CA10604977C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.376G>T (p.Val126Leu)1674DESUncertain significancers876657770RCV000214253|RCV000820863; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283560220283560GTNC_000002.11:g.220283560G>TClinGen:CA10576589CN169374 not specified;
NM_001927.4(DES):c.379C>G (p.Arg127Gly)1674DESUncertain significance-1RCV001363964; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283563220283563CG220283563-
NM_001927.4(DES):c.380G>C (p.Arg127Pro)1674DESConflicting interpretations of pathogenicityrs397516694RCV000037239|RCV000183371|RCV000547988|RCV000852536; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:2472220283564220283564GC2:g.220283564G>CClinGen:CA133847C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.386T>G (p.Leu129Arg)1674DESUncertain significance-1RCV001888348; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283570220283570TG220283570-
NM_001927.4(DES):c.391C>A (p.Gln131Lys)1674DESUncertain significancers771499260RCV000470564|RCV000484887; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283575220283575CANC_000002.11:g.220283575C>AClinGen:CA2125062C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.394C>T (p.Gln132Ter)1674DESPathogenicrs1060503165RCV000465218|RCV001380227; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283578220283578CTNC_000002.11:g.220283578C>TClinGen:CA16610670C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.402G>A (p.Ala134=)1674DESLikely benign-1RCV002151958; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283586220283586GA220283586-
NM_001927.4(DES):c.404C>T (p.Ala135Val)1674DESConflicting interpretations of pathogenicityrs546741834RCV000217198|RCV000725598|RCV001079455; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283588220283588CTNC_000002.11:g.220283588C>TClinGen:CA2125063C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.404C>G (p.Ala135Gly)1674DESUncertain significancers546741834RCV001299339; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283588220283588CG220283588-
NM_001927.4(DES):c.405G>A (p.Ala135=)1674DESLikely benign-1RCV002119566; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283589220283589GA220283589-
NM_001927.4(DES):c.406C>G (p.Leu136Val)1674DESUncertain significance-1RCV001360035; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283590220283590CG220283590-
NM_001927.4(DES):c.407T>A (p.Leu136His)1674DESUncertain significancers397516695RCV000037241|RCV000528546|RCV000618538|RCV000735343|RCV000726980|RCV001798112; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN230736|14 conditions|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orph2220283591220283591TA2:g.220283591T>AClinGen:CA133850CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.408C>T (p.Leu136=)1674DESBenign/Likely benignrs111828114RCV000037242|RCV000249408|RCV000278909|RCV000284644|RCV000323335|RCV000380447|RCV000460179|RCV001668158; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN239446|MONDO:MONDO:0011072220283592220283592CT2:g.220283592C>TClinGen:CA133853CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.408C>A (p.Leu136=)1674DESLikely benign-1RCV002089827; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283592220283592CA220283592-
NM_001927.4(DES):c.410C>A (p.Ala137Asp)1674DESUncertain significancers775115627RCV000229186; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283594220283594CA2:g.220283594C>AClinGen:CA10581947C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.411C>T (p.Ala137=)1674DESLikely benign-1RCV002208089; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283595220283595CT220283595-
NM_001927.4(DES):c.411C>G (p.Ala137=)1674DESLikely benign-1RCV002177425; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283595220283595CG220283595-
NM_001927.4(DES):c.414C>G (p.Ala138=)1674DESLikely benign-1RCV002105237; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283598220283598CG220283598-
NM_001927.4(DES):c.415G>A (p.Glu139Lys)1674DESUncertain significancers763769862RCV000463745; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283599220283599GANC_000002.11:g.220283599G>AClinGen:CA16610612C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.418G>C (p.Val140Leu)1674DESUncertain significance-1RCV002047609; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283602220283602GC220283602-
NM_001927.4(DES):c.418G>A (p.Val140Met)1674DESUncertain significance-1RCV001880274; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283602220283602GA220283602-
NM_001927.4(DES):c.423C>T (p.Asn141=)1674DESBenign/Likely benign-1RCV001635743|RCV002072949; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283607220283607CT220283607-
NM_001927.4(DES):c.427C>G (p.Leu143Val)1674DESUncertain significancers1954376231RCV001217571; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283611220283611CG2:g.220283611C>G-
NM_001927.4(DES):c.428T>C (p.Leu143Pro)1674DESUncertain significancers1419950518RCV001198114; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283612220283612TC2:g.220283612T>C-
NM_001927.4(DES):c.434G>A (p.Gly145Asp)1674DESUncertain significancers1553603267RCV000651539; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283618220283618GA2:g.220283618G>AClinGen:CA350686173C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.444G>A (p.Pro148=)1674DESLikely benign-1RCV001486167; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283628220283628GA220283628-
NM_001927.4(DES):c.447G>C (p.Thr149=)1674DESLikely benignrs1575013396RCV000939163|RCV001464039; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283631220283631GC2:g.220283631G>C-
NM_001927.4(DES):c.452_459del (p.Val151fs)1674DESPathogenic-1RCV001388854; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283632220283639GCGAGTGGCG220283631-
NM_001927.4(DES):c.449G>A (p.Arg150Gln)1674DESUncertain significancers876661344RCV000223735|RCV001368093; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283633220283633GA2:g.220283633G>AClinGen:CA10581142CN169374 not specified;
NM_001927.4(DES):c.461T>A (p.Leu154His)1674DESUncertain significancers755106109RCV000685600; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283645220283645TANC_000002.11:g.220283645T>A-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.466G>A (p.Glu156Lys)1674DESUncertain significancers765471098RCV000504292|RCV001851408; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283650220283650GANC_000002.11:g.220283650G>AClinGen:CA2125072CN169374 not specified;
NM_001927.4(DES):c.466G>C (p.Glu156Gln)1674DESUncertain significance-1RCV001905553; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283650220283650GC220283650-
NM_001927.4(DES):c.467A>T (p.Glu156Val)1674DESUncertain significance-1RCV001365146; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283651220283651AT220283651-
NM_001927.4(DES):c.469G>A (p.Glu157Lys)1674DESUncertain significancers1265299630RCV001324483; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283653220283653GA220283653-
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup)1674DESUncertain significancers1954378812RCV001040305; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283668220283669CCTGCGGCGCCAGGTGGAGG2:g.220283668_220283669insTGCGGCGCCAGGTGGAGG-
NM_001927.4(DES):c.488G>A (p.Arg163Gln)1674DESUncertain significancers1457012198RCV000697561; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283672220283672GANC_000002.11:g.220283672G>A-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.488G>C (p.Arg163Pro)1674DESUncertain significance-1RCV001903854; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283672220283672GC220283672-
NM_001927.4(DES):c.489G>A (p.Arg163=)1674DESLikely benignrs1448975712RCV000868269|RCV001499153; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283673220283673GA2:g.220283673G>A-
NM_001927.4(DES):c.500A>G (p.Glu167Gly)1674DESUncertain significancers1575013470RCV001004983; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283684220283684AG2:g.220283684A>G-
NM_001927.4(DES):c.501G>T (p.Glu167Asp)1674DESUncertain significance-1RCV002010521; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283685220283685GT220283685-
NM_001927.4(DES):c.514C>T (p.Gln172Ter)1674DESPathogenicrs1559352440RCV000697545; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283698220283698CT2:g.220283698C>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)1674DESPathogenicrs60538473RCV000018317|RCV000056803; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220283699220283719CAGCGCGCGCGCGTCGACGTCGC2:g.220283699_220283719delClinGen:CA217075,OMIM:125660.0004C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.515A>C (p.Gln172Pro)1674DESUncertain significance-1RCV001931906; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283699220283699AC220283699-
NM_001927.4(DES):c.516G>A (p.Gln172=)1674DESConflicting interpretations of pathogenicityrs1014762661RCV000770166|RCV000877659|RCV002067214; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283700220283700GANC_000002.11:g.220283700G>A-
NM_001927.4(DES):c.525_526del (p.Val176fs)1674DESPathogenic-1RCV001381376; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283700220283701AGCA220283699-
NM_001927.4(DES):c.517C>A (p.Arg173Ser)1674DESUncertain significancers752944882RCV001309772; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283701220283701CA220283701-
NM_001927.4(DES):c.519C>A (p.Arg173=)1674DESLikely benign-1RCV001479834; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283703220283703CA220283703-
NM_001927.4(DES):c.524G>A (p.Arg175His)1674DESUncertain significancers878854472RCV000231969; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283708220283708GA2:g.220283708G>AClinGen:CA10581948C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.525C>A (p.Arg175=)1674DESLikely benign-1RCV001498634; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283709220283709CA220283709-
NM_001927.4(DES):c.528C>T (p.Val176=)1674DESLikely benign-1RCV002200244; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283712220283712CT220283712-
NM_001927.4(DES):c.529G>A (p.Asp177Asn)1674DESUncertain significancers1057524813RCV000435976|RCV001861644; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283713220283713GA2:g.220283713G>AClinGen:CA16604072CN169374 not specified;
NM_001927.4(DES):c.534C>T (p.Val178=)1674DESLikely benign-1RCV002121459; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283718220283718CT220283718-
NM_001927.4(DES):c.540C>T (p.Arg180=)1674DESLikely benignrs757644636RCV000606815|RCV000926407; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283724220283724CT2:g.220283724C>TClinGen:CA2125078CN169374 not specified;
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del)1674DESUncertain significancers1954382461RCV001060758; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283724220283735GCGACAACCTGCTG2:g.220283724_220283735del-
NM_001927.4(DES):c.541G>C (p.Asp181His)1674DESUncertain significancers1297244198RCV000535306|RCV000770167; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678482220283725220283725GCNC_000002.11:g.220283725G>CClinGen:CA350686999C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.541G>A (p.Asp181Asn)1674DESUncertain significancers1297244198RCV000577988|RCV000578065|RCV000578096; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283725220283725GA2:g.220283725G>AClinGen:CA350686998C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.543C>T (p.Asp181=)1674DESLikely benign-1RCV001414832; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283727220283727CT220283727-
NM_001927.4(DES):c.552C>T (p.Leu184=)1674DESLikely benignrs1050510822RCV000616229|RCV000866225; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283736220283736CT2:g.220283736C>TClinGen:CA65981348CN169374 not specified;
NM_001927.4(DES):c.556G>T (p.Asp186Tyr)1674DESUncertain significancers878854473RCV000225879; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283740220283740GTNC_000002.11:g.220283740G>TClinGen:CA10581949C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.558C>G (p.Asp186Glu)1674DESUncertain significancers1575013561RCV000811768|RCV001759569; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220283742220283742CG2:g.220283742C>G-
NM_001927.4(DES):c.559C>T (p.Leu187=)1674DESLikely benign-1RCV001406621|RCV001823771; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN1693742220283743220283743CT220283743-
NM_001927.4(DES):c.560T>G (p.Leu187Arg)1674DESUncertain significancers1248833348RCV001211738; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283744220283744TG2:g.220283744T>G-
NM_001927.4(DES):c.565C>T (p.Arg189Trp)1674DESUncertain significancers1223277151RCV000700407; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283749220283749CTNC_000002.11:g.220283749C>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.566G>A (p.Arg189Gln)1674DESUncertain significancers1025323214RCV000484309|RCV000808258; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283750220283750GANC_000002.11:g.220283750G>AClinGen:CA16617478CN169374 not specified;
NM_001927.4(DES):c.571A>G (p.Lys191Glu)1674DESUncertain significance-1RCV001373380; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283755220283755AG220283755-
NM_001927.4(DES):c.575C>T (p.Ala192Val)1674DESUncertain significance-1RCV001928849; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220283759220283759CT220283759-
NM_001927.4(DES):c.578+10C>T1674DESLikely benignrs969392028RCV000651554; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220283772220283772CT2:g.220283772C>TClinGen:CA65981385C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.578+11G>A1674DESBenignrs111548596RCV000037243|RCV000282624|RCV000336446|RCV000349318|RCV000406497|RCV001675591|RCV002054650; NMedGen:CN169374|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN239446|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011072220283773220283773GA2:g.220283773G>AClinGen:CA133856CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.579-38C>T1674DESBenignrs12991025RCV000254468|RCV000830418|RCV001660222|RCV001660223|RCV001660224; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220284779220284779CTNC_000002.11:g.220284779C>TClinGen:CA2125081CN169374 not specified;
NM_001927.4(DES):c.579-5C>A1674DESLikely benignrs886042889RCV000930425; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284812220284812CA2:g.220284812C>A-
NM_001927.4(DES):c.586GAG[1] (p.Glu197del)1674DESUncertain significance-1RCV002025170; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284822220284824CAGGC220284821-
NM_001927.4(DES):c.591G>A (p.Glu197=)1674DESLikely benign-1RCV002145387; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284829220284829GA220284829-
NM_001927.4(DES):c.593T>C (p.Ile198Thr)1674DESUncertain significance-1RCV001921202; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284831220284831TC220284831-
NM_001927.4(DES):c.598T>C (p.Leu200=)1674DESLikely benignrs1320454372RCV000866515|RCV001397881; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284836220284836TC2:g.220284836T>C-
NM_001927.4(DES):c.599T>A (p.Leu200Ter)1674DESPathogenic-1RCV001926904; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284837220284837TA220284837-
NM_001927.4(DES):c.600G>A (p.Leu200=)1674DESLikely benignrs1575014014RCV000842584|RCV001496751; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284838220284838GA2:g.220284838G>A-
NM_001927.4(DES):c.603G>C (p.Lys201Asn)1674DESUncertain significancers765376573RCV000811949; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284841220284841GC2:g.220284841G>C-
NM_001927.4(DES):c.607G>A (p.Glu203Lys)1674DESUncertain significance-1RCV001898268; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284845220284845GA220284845-
NM_001927.4(DES):c.609A>C (p.Glu203Asp)1674DESUncertain significancers369495436RCV000246738|RCV001215575|RCV001538107; NMedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220284847220284847AC2:g.220284847A>CClinGen:CA2125090CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.610G>T (p.Ala204Ser)1674DESUncertain significancers1575014034RCV000813689; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284848220284848GT2:g.220284848G>T-
NM_001927.4(DES):c.610G>A (p.Ala204Thr)1674DESUncertain significance-1RCV001901578; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284848220284848GA220284848-
NM_001927.4(DES):c.615G>A (p.Glu205=)1674DESLikely benignrs1295010624RCV000927908|RCV001411363; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284853220284853GA2:g.220284853G>A-
NM_001927.4(DES):c.615G>C (p.Glu205Asp)1674DESUncertain significance-1RCV001872580; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284853220284853GC220284853-
NM_001927.4(DES):c.621T>C (p.Asn207=)1674DESLikely benign-1RCV001972015; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284859220284859TC220284859-
NM_001927.4(DES):c.622T>C (p.Leu208=)1674DESLikely benign-1RCV002085216; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284860220284860TC220284860-
NM_001927.4(DES):c.623T>C (p.Leu208Ser)1674DESUncertain significancers373062962RCV000480868|RCV001047516; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284861220284861TC2:g.220284861T>CClinGen:CA16617479CN169374 not specified;
NM_001927.4(DES):c.629C>T (p.Ala210Val)1674DESUncertain significancers1060503169RCV000475550; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284867220284867CTNC_000002.11:g.220284867C>TClinGen:CA16610613C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.634C>T (p.Arg212Ter)1674DESPathogenic/Likely pathogenicrs781590560RCV000183373|RCV001380936; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284872220284872CT2:g.220284872C>TClinGen:CA308316CN517202 not provided;
NM_001927.4(DES):c.635G>A (p.Arg212Gln)1674DESConflicting interpretations of pathogenicityrs144261171RCV000154696|RCV000157163|RCV000229797|RCV000307432|RCV000371396|RCV000393436|RCV000406154|RCV000725364|RCV001264391|RCV001798502; NMedGen:CN169374|Human Phenotype Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MON2220284873220284873GA2:g.220284873G>AClinGen:CA181189CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.637G>A (p.Ala213Thr)1674DESUncertain significancers918962036RCV000522498|RCV000702212; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284875220284875GA2:g.220284875G>AClinGen:CA65982205C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.639G>A (p.Ala213=)1674DESUncertain significancers377337947RCV000547694; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284877220284877GA2:g.220284877G>AClinGen:CA2125095C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.639+4_639+5del1674DESPathogenicrs730880289RCV000157059; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284880220284881TGATNC_000002.11:g.220284881_220284882delClinGen:CA273725C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.639+13_639+15del1674DESLikely benignrs876657448RCV000221494|RCV000466080|RCV001467943; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284887220284889CCTTCNC_000002.11:g.220284887CTT[1]ClinGen:CA2125096C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.639+17T>G1674DESLikely benign-1RCV002193609; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284894220284894TG220284894-
NM_001927.4(DES):c.639+18C>T1674DESLikely benign-1RCV002148254; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284895220284895CT220284895-
NM_001927.4(DES):c.640-16G>A1674DESBenignrs181712657RCV000183341|RCV002054180; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284957220284957GANC_000002.11:g.220284957G>AClinGen:CA308251CN169374 not specified;
NC_000002.12:g.(?_219420241)_(219426000_?)dup1674DESUncertain significance-1RCV001032056; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284963220290722nana-1-
NM_001927.4(DES):c.640-10C>T1674DESLikely benign-1RCV001485824; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284963220284963CT220284963-
NM_001927.4(DES):c.640-4C>G1674DESLikely benignrs375680081RCV000441822|RCV001448868; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284969220284969CG2:g.220284969C>GClinGen:CA2125113CN169374 not specified;
NM_001927.4(DES):c.640-2A>G1674DESUncertain significancers267607492RCV000056807|RCV001854168; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284971220284971AG2:g.220284971A>GClinGen:CA217081CN517202 not provided;
NM_001927.4(DES):c.640-1G>A1674DESPathogenicrs267607484RCV000056806|RCV001845047; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284972220284972GA2:g.220284972G>AClinGen:CA217080,OMIM:125660.0009CN517202 not provided;
NM_001927.4(DES):c.640G>T (p.Asp214Tyr)1674DESUncertain significancers1954409882RCV001330867; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220284973220284973GT220284973-
NM_001927.4(DES):c.642C>T (p.Asp214=)1674DESConflicting interpretations of pathogenicityrs370239228RCV000037246|RCV000726210|RCV001085258|RCV001137532|RCV001142275|RCV001142276; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:602220284975220284975CT2:g.220284975C>TClinGen:CA133863CN169374 not specified;
NM_001927.4(DES):c.643G>A (p.Val215Met)1674DESUncertain significancers144908941RCV000208223|RCV000620253|RCV000651548|RCV000725602; NMONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220284976220284976GA2:g.220284976G>AClinGen:CA078107CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.656C>T (p.Thr219Ile)1674DESConflicting interpretations of pathogenicityrs144901249RCV000217963|RCV000726722|RCV000770168|RCV001084978; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284989220284989CT2:g.220284989C>TClinGen:CA2125118C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.662C>T (p.Ala221Val)1674DESUncertain significancers746814065RCV000801036; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220284995220284995CT2:g.220284995C>T-
NM_001927.4(DES):c.665G>A (p.Arg222His)1674DESConflicting interpretations of pathogenicityrs367961979RCV000154697|RCV000260200|RCV000324508|RCV000355054|RCV000379116|RCV000540698|RCV001657879; NMedGen:CN169374|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MONDO:MONDO:0014129,MedGen:C3809132220284998220284998GA2:g.220284998G>AClinGen:CA181192CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.669T>C (p.Ile223=)1674DESBenign/Likely benignrs75882680RCV000037247|RCV000029659|RCV000250651|RCV000265756|RCV000290647|RCV000320860|RCV000384969|RCV000476709|RCV001659730; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN230736|MedGen:CN239446|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400,Orphan2220285002220285002TC2:g.220285002T>CClinGen:CA133866C0878544 Cardiomyopathy;
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His)1674DESUncertain significancers1954411290RCV001037199; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285002220285003TGCCNC_000002.11:g.220285002_220285003delinsCC-
NM_001927.4(DES):c.679C>T (p.Arg227Cys)1674DESUncertain significancers767743962RCV000468464|RCV001809412; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220285012220285012CTNC_000002.11:g.220285012C>TClinGen:CA2125125C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.680G>A (p.Arg227His)1674DESUncertain significancers141486420RCV000727063|RCV001055164; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285013220285013GA2:g.220285013G>AClinGen:CA308254CN169374 not specified;
NM_001927.4(DES):c.680G>T (p.Arg227Leu)1674DESUncertain significance-1RCV001368603; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285013220285013GT220285013-
NM_001927.4(DES):c.690A>G (p.Glu230=)1674DESLikely benignrs142145822RCV000898792; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285023220285023AG2:g.220285023A>G-
NM_001927.4(DES):c.694C>T (p.Leu232Phe)1674DESUncertain significancers764764823RCV000651541; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285027220285027CT2:g.220285027C>TClinGen:CA2125129C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.696C>T (p.Leu232=)1674DESLikely benign-1RCV001459274; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285029220285029CT220285029-
NM_001927.4(DES):c.699C>T (p.Asn233=)1674DESBenign/Likely benignrs758066814RCV000461370|RCV001672797; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285032220285032CTNC_000002.11:g.220285032C>TClinGen:CA2125131C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.700G>A (p.Glu234Lys)1674DESUncertain significancers774739275RCV000470148; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285033220285033GANC_000002.11:g.220285033G>AClinGen:CA16610620C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.700G>T (p.Glu234Ter)1674DESPathogenic-1RCV001809316; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285033220285033GT220285033-
NM_001927.4(DES):c.705G>A (p.Glu235=)1674DESLikely benign-1RCV002098906; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285038220285038GA220285038-
NM_001927.4(DES):c.708C>T (p.Ile236=)1674DESConflicting interpretations of pathogenicityrs886044078RCV000339337|RCV000617379|RCV001431773; NMedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285041220285041CT2:g.220285041C>TClinGen:CA10606321CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.709G>A (p.Ala237Thr)1674DESUncertain significancers397516697RCV000037248|RCV000727164|RCV000795291; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285042220285042GANC_000002.11:g.220285042G>AClinGen:CA133869CN169374 not specified;
NM_001927.4(DES):c.709G>T (p.Ala237Ser)1674DESUncertain significance-1RCV001945264; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285042220285042GT220285042-
NM_001927.4(DES):c.711G>A (p.Ala237=)1674DESLikely benignrs757102249RCV000932343|RCV001451648; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285044220285044GA2:g.220285044G>A-
NM_001927.4(DES):c.714C>T (p.Phe238=)1674DESLikely benign-1RCV002103954; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285047220285047CT220285047-
NM_001927.4(DES):c.718A>G (p.Lys240Glu)1674DESUncertain significancers1954413354RCV001217690; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285051220285051AG2:g.220285051A>G-
NM_001927.4(DES):c.727C>T (p.His243Tyr)1674DESUncertain significancers769647148RCV000183347|RCV000473075; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285060220285060CT2:g.220285060C>TClinGen:CA308260C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.728A>G (p.His243Arg)1674DESUncertain significancers1410266369RCV000523746|RCV001139743|RCV001139742|RCV001139744|RCV001853673; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Or2220285061220285061AG2:g.220285061A>GClinGen:CA350690647CN169374 not specified;
NM_001927.4(DES):c.735_735+3dup1674DESUncertain significancers1954413969RCV001216447; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285066220285067GGAGGT2:g.220285066_220285067insAGGT-
NM_001927.4(DES):c.734A>G (p.Glu245Gly)1674DESUncertain significancers1575014243RCV000800591; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285067220285067AG2:g.220285067A>G-
NM_001927.4(DES):c.735G>C (p.Glu245Asp)1674DESPathogenic/Likely pathogenicrs267607486RCV000056811|RCV001823106; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285068220285068GC2:g.220285068G>CClinGen:CA217085,UniProtKB:P17661#VAR_042452C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.735G>A (p.Glu245=)1674DESConflicting interpretations of pathogenicityrs267607486RCV000489159|RCV001321146; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285068220285068GA2:g.220285068G>AClinGen:CA10603828C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.735+1G>A1674DESPathogenic/Likely pathogenicrs397516698RCV000037249|RCV000393713|RCV001220792; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285069220285069GA2:g.220285069G>AClinGen:CA261522C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.735+1G>C1674DESLikely pathogenicrs397516698RCV000150381; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285069220285069GC2:g.220285069G>CClinGen:CA273134C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.735+1G>T1674DESLikely pathogenicrs397516698RCV000700903|RCV001784338; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285069220285069GTNC_000002.11:g.220285069G>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.735+3A>T1674DESUncertain significancers267607483RCV000459118; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285071220285071ATNC_000002.11:g.220285071A>TClinGen:CA16610783C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.735+6C>T1674DESUncertain significancers1302528006RCV001214409; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285074220285074CT2:g.220285074C>T-
NM_001927.4(DES):c.735+10G>A1674DESLikely benign-1RCV001416868; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285078220285078GA220285078-
NM_001927.4(DES):c.735+10G>T1674DESLikely benign-1RCV002123299; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285078220285078GT220285078-
NM_001927.4(DES):c.735+11G>A1674DESConflicting interpretations of pathogenicityrs1559352868RCV001139746|RCV001139747|RCV001139745|RCV002070661; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:002220285079220285079GA2:g.220285079G>A-
NM_001927.4(DES):c.735+20C>T1674DESBenignrs151226355RCV000037250|RCV000239638|RCV001650866|RCV002054651; NMedGen:CN169374|Human Phenotype Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419, Orphanet:593|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285088220285088CT2:g.220285088C>TClinGen:CA133872C2678065 Myofibrillar myopathy;
NM_001927.4(DES):c.736-19G>A1674DESLikely benignrs745667526RCV000426966|RCV002061372; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285198220285198GA2:g.220285198G>AClinGen:CA2125150CN169374 not specified;
NC_000002.12:g.(?_219420485)_(219426000_?)dup1674DESUncertain significance-1RCV001033912; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285207220290722nana-1-
NM_001927.4(DES):c.736-9G>A1674DESLikely benignrs1553603433RCV000524631; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285208220285208GA2:g.220285208G>AClinGen:CA658657243C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.736-8C>A1674DESConflicting interpretations of pathogenicityrs140375681RCV000482297|RCV000711440|RCV001088745; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285209220285209CA2:g.220285209C>AClinGen:CA2125152C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.738G>C (p.Glu246Asp)1674DESUncertain significancers1954417703RCV001036926|RCV001784572; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220285219220285219GC2:g.220285219G>C-
NM_001927.4(DES):c.742C>T (p.Arg248Cys)1674DESUncertain significancers772117708RCV000701695|RCV001797133; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285223220285223CTNC_000002.11:g.220285223C>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.746A>C (p.Glu249Ala)1674DESUncertain significancers1256488465RCV001351211; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285227220285227AC220285227-
NM_001927.4(DES):c.761T>G (p.Leu254Arg)1674DESUncertain significancers1559352926RCV000689133; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285242220285242TGNC_000002.11:g.220285242T>G-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.767A>G (p.Glu256Gly)1674DESUncertain significancers1553603440RCV000541620; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285248220285248AGNC_000002.11:g.220285248A>GClinGen:CA350690914C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.770A>G (p.Gln257Arg)1674DESUncertain significancers1954418582RCV001211291; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285251220285251AG2:g.220285251A>G-
NM_001927.4(DES):c.785A>T (p.Glu262Val)1674DESConflicting interpretations of pathogenicityrs147327878RCV000037252|RCV000711441|RCV001081604; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285266220285266AT2:g.220285266A>TClinGen:CA133873C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.792C>T (p.Asp264=)1674DESBenign/Likely benignrs150370918RCV000037253|RCV000204254|RCV000242387|RCV000295994|RCV000345483|RCV000350858|RCV000381468|RCV001675592; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MONDO:MONDO:0008407,MedGen:2220285273220285273CT2:g.220285273C>TClinGen:CA133876CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.794T>C (p.Met265Thr)1674DESUncertain significance-1RCV001558113|RCV001859383; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285275220285275TC220285275-
NM_001927.4(DES):c.796T>C (p.Ser266Pro)1674DESUncertain significancers1342331264RCV001319629; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285277220285277TC220285277-
NM_001927.4(DES):c.797C>T (p.Ser266Phe)1674DESUncertain significance-1RCV001970572; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285278220285278CT220285278-
NM_001927.4(DES):c.802C>G (p.Pro268Ala)1674DESUncertain significancers1434613160RCV000531257|RCV001529745; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285283220285283CG2:g.220285283C>GClinGen:CA350691192C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.811A>T (p.Thr271Ser)1674DESUncertain significance-1RCV002002725; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285292220285292AT220285292-
NM_001927.4(DES):c.816C>T (p.Ala272=)1674DESLikely benignrs759823001RCV000418306|RCV000539100|RCV000770169|RCV001428223; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285297220285297CT2:g.220285297C>TClinGen:CA2125157C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.817G>T (p.Ala273Ser)1674DESUncertain significancers770258461RCV000408094|RCV001313664; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285298220285298GT2:g.220285298G>TClinGen:CA10605026CN169374 not specified;
NM_001927.4(DES):c.817G>A (p.Ala273Thr)1674DESUncertain significancers770258461RCV001055491|RCV001815496; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285298220285298GA2:g.220285298G>A-
NM_001927.4(DES):c.822C>T (p.Leu274=)1674DESConflicting interpretations of pathogenicityrs763599850RCV000292844|RCV001078951; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285303220285303CT2:g.220285303C>TClinGen:CA2125160C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.823A>G (p.Arg275Gly)1674DESUncertain significance-1RCV001894717; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285304220285304AG220285304-
NM_001927.4(DES):c.826G>A (p.Asp276Asn)1674DESUncertain significance-1RCV001368119; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285307220285307GA220285307-
NM_001927.4(DES):c.828C>T (p.Asp276=)1674DESBenignrs1058261RCV000037254|RCV000247557|RCV000311313|RCV000338231|RCV000390698|RCV000397462|RCV001509597|RCV001650867; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011072220285309220285309CT2:g.220285309C>TClinGen:CA133879CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.830T>A (p.Ile277Asn)1674DESUncertain significancers1459036752RCV001338585; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285311220285311TA220285311-
NM_001927.4(DES):c.832C>T (p.Arg278Trp)1674DESUncertain significancers794728985RCV000183349|RCV000693194; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285313220285313CT2:g.220285313C>TClinGen:CA308263C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.833G>C (p.Arg278Pro)1674DESUncertain significancers761475402RCV000183374|RCV001342240; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285314220285314GC2:g.220285314G>CClinGen:CA308319CN169374 not specified;
NM_001927.4(DES):c.839A>G (p.Gln280Arg)1674DESUncertain significancers750160975RCV000693121; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285320220285320AGNC_000002.11:g.220285320A>G-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.840G>C (p.Gln280His)1674DESUncertain significancers1954420895RCV001297487; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285321220285321GC220285321-
NM_001927.4(DES):c.840G>A (p.Gln280=)1674DESLikely benign-1RCV001443760; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285321220285321GA220285321-
NM_001927.4(DES):c.853G>A (p.Ala285Thr)1674DESUncertain significancers876657771RCV000221598|RCV000804446; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285334220285334GANC_000002.11:g.220285334G>AClinGen:CA10576590CN169374 not specified;
NM_001927.4(DES):c.854C>T (p.Ala285Val)1674DESUncertain significancers1368507241RCV001171068|RCV001784663|RCV001873578; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285335220285335CT2:g.220285335C>T-
NM_001927.4(DES):c.855G>A (p.Ala285=)1674DESLikely benign-1RCV001442060; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285336220285336GA220285336-
NM_001927.4(DES):c.858T>C (p.Ala286=)1674DESLikely benign-1RCV001408037; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285339220285339TC220285339-
NM_001927.4(DES):c.869C>A (p.Ser290Tyr)1674DESUncertain significancers981782522RCV000817146|RCV001256942; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285350220285350CA2:g.220285350C>A-
NM_001927.4(DES):c.883T>G (p.Trp295Gly)1674DESConflicting interpretations of pathogenicityrs794728986RCV000183350|RCV001337313; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285364220285364TG2:g.220285364T>GClinGen:CA308266CN517202 not provided;
NM_001927.4(DES):c.885G>A (p.Trp295Ter)1674DESPathogenic-1RCV001383569; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285366220285366GA220285366-
NM_001927.4(DES):c.886T>C (p.Tyr296His)1674DESUncertain significance-1RCV001926671; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285367220285367TC220285367-
NM_001927.4(DES):c.894G>A (p.Ser298=)1674DESLikely benignrs747073500RCV000213833|RCV000556100|RCV001726047; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285375220285375GANC_000002.11:g.220285375G>AClinGen:CA2125169C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.897+4_897+5del1674DESBenign/Likely benignrs397516699RCV000037255|RCV000268007|RCV000298076|RCV000304469|RCV000352919|RCV000462365|RCV000770170|RCV001258319|RCV001610325; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|Human Phenotype Ontology:HP:0003704,MedGen:C1842161|MedGen:CN239310|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:2220285381220285382TGGT2:g.220285381_220285382delClinGen:CA133882CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.897+4G>A1674DESUncertain significancers1329171337RCV001221829; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285382220285382GA2:g.220285382G>A-
NM_001927.4(DES):c.897+6T>G1674DESUncertain significancers1954422546RCV001058934; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285384220285384TG2:g.220285384T>G-
NM_001927.4(DES):c.897+8G>T1674DESLikely benign-1RCV002165455; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285386220285386GT220285386-
NM_001927.4(DES):c.897+10C>T1674DESLikely benign-1RCV001492594; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285388220285388CT220285388-
NM_001927.4(DES):c.897+12C>T1674DESLikely benign-1RCV002119043; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285390220285390CT220285390-
NM_001927.4(DES):c.897+13G>A1674DESLikely benignrs201433470RCV001813133|RCV001871693; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285391220285391GA220285391-
NM_001927.4(DES):c.897+16C>T1674DESBenign/Likely benignrs370385097RCV000124667|RCV002055522; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285394220285394CT2:g.220285394C>TClinGen:CA290579CN169374 not specified;
NM_001927.4(DES):c.897+17G>A1674DESUncertain significance-1RCV001877180; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285395220285395GA220285395-
NM_001927.4(DES):c.898-18C>T1674DESLikely benign-1RCV002096500; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285532220285532CT220285532-
NM_001927.4(DES):c.898-16C>T1674DESLikely benign-1RCV002215022; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285534220285534CT220285534-
NM_001927.4(DES):c.898-6C>T1674DESLikely benign-1RCV001406297; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285544220285544CT220285544-
NM_001927.4(DES):c.898-5C>T1674DESLikely benignrs371053066RCV000440557|RCV001462740; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285545220285545CT2:g.220285545C>TClinGen:CA16604128CN169374 not specified;
NM_001927.4(DES):c.898G>A (p.Val300Met)1674DESUncertain significance-1RCV001952549; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285550220285550GA220285550-
NM_001927.4(DES):c.906C>A (p.Asp302Glu)1674DESUncertain significancers1224203630RCV001322842; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285558220285558CA220285558-
NM_001927.4(DES):c.912C>T (p.Thr304=)1674DESBenign/Likely benignrs778826152RCV000532156|RCV001171069; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678482220285564220285564CT2:g.220285564C>TClinGen:CA2125185C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.912C>A (p.Thr304=)1674DESLikely benign-1RCV001488207; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285564220285564CA220285564-
NM_001927.4(DES):c.924C>T (p.Asn308=)1674DESConflicting interpretations of pathogenicityrs578191306RCV000264452|RCV000265821|RCV000328732|RCV000359127|RCV000383286|RCV000725277|RCV001088971; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MedGen:CN169374|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MedGen:CN517202|MONDO:MONDO:0011072220285576220285576CT2:g.220285576C>TClinGen:CA2125188CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.933C>T (p.Asn311=)1674DESLikely benignrs756434148RCV000619044|RCV000862243|RCV001448677; NMedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285585220285585CT2:g.220285585C>TClinGen:CA2125190CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.934G>A (p.Asp312Asn)1674DESConflicting interpretations of pathogenicityrs34337334RCV000037257|RCV000056815|RCV000245347|RCV000475003|RCV000770171|RCV000987035|RCV001137622|RCV001137623|RCV001293064; NMedGen:CN169374|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MO2220285586220285586GA2:g.220285586G>AClinGen:CA133883CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.935A>C (p.Asp312Ala)1674DESConflicting interpretations of pathogenicityrs148947510RCV000037258|RCV000243219|RCV000725547|RCV001085666; NMedGen:CN169374|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285587220285587AC2:g.220285587A>CClinGen:CA133886CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.936C>T (p.Asp312=)1674DESLikely benign-1RCV002112775; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285588220285588CT220285588-
NM_001927.4(DES):c.937G>A (p.Ala313Thr)1674DESUncertain significancers766252091RCV000219149|RCV000819601|RCV001570755; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285589220285589GANC_000002.11:g.220285589G>AClinGen:CA2125192CN169374 not specified;
NM_001927.4(DES):c.939C>T (p.Ala313=)1674DESLikely benignrs1060504848RCV000457143; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285591220285591CTNC_000002.11:g.220285591C>TClinGen:CA16610671C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.943C>T (p.Arg315Cys)1674DESUncertain significancers748742357RCV000651543; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285595220285595CT2:g.220285595C>TClinGen:CA2125193C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.944G>A (p.Arg315His)1674DESUncertain significancers771455648RCV000401481|RCV001373833; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285596220285596GA2:g.220285596G>AClinGen:CA2125194CN169374 not specified;
NM_001927.4(DES):c.961A>G (p.Met321Val)1674DESUncertain significance-1RCV002047939; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285613220285613AG220285613-
NM_001927.4(DES):c.962T>C (p.Met321Thr)1674DESUncertain significancers760197212RCV000734711|RCV001855818; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285614220285614TCNC_000002.11:g.220285614T>C-
NM_001927.4(DES):c.973C>T (p.Arg325Ter)1674DESPathogenic/Likely pathogenicrs959034410RCV001092431|RCV001382898; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285625220285625CT2:g.220285625C>T-
NM_001927.4(DES):c.974G>A (p.Arg325Gln)1674DESUncertain significancers766035912RCV000221526|RCV000807006; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285626220285626GANC_000002.11:g.220285626G>AClinGen:CA2125197CN169374 not specified;
NM_001927.4(DES):c.975A>G (p.Arg325=)1674DESLikely benign-1RCV002219030; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285627220285627AG220285627-
NM_001927.4(DES):c.976C>T (p.His326Tyr)1674DESUncertain significancers794728987RCV000183352|RCV000459000|RCV001798637; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678482220285628220285628CT2:g.220285628C>TClinGen:CA308269C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.977A>G (p.His326Arg)1674DESUncertain significance-1RCV001990577; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285629220285629AG220285629-
NM_001927.4(DES):c.986A>C (p.Gln329Pro)1674DESUncertain significancers1060503168RCV000468065|RCV000481645; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285638220285638ACNC_000002.11:g.220285638A>CClinGen:CA16610787C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.991T>A (p.Tyr331Asn)1674DESUncertain significancers1064795298RCV000479076|RCV001851216; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285643220285643TA2:g.220285643T>AClinGen:CA16617480CN169374 not specified;
NM_001927.4(DES):c.992A>C (p.Tyr331Ser)1674DESUncertain significancers1954428602RCV001208564; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285644220285644AC2:g.220285644A>C-
NM_001927.4(DES):c.993C>T (p.Tyr331=)1674DESLikely benign-1RCV001411208; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285645220285645CT220285645-
NM_001927.4(DES):c.995C>T (p.Thr332Ile)1674DESUncertain significancers368453327RCV000697290; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285647220285647CT2:g.220285647C>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.999C>T (p.Cys333=)1674DESConflicting interpretations of pathogenicityrs1157722667RCV000614852|RCV000705592|RCV001288588; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285651220285651CT2:g.220285651C>TClinGen:CA431428180C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1000G>A (p.Glu334Lys)1674DESUncertain significancers1227068284RCV000805331; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285652220285652GA2:g.220285652G>A-
NM_001927.4(DES):c.1004T>C (p.Ile335Thr)1674DESUncertain significancers1954429245RCV001322764; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285656220285656TC220285656-
NM_001927.4(DES):c.1008C>T (p.Asp336=)1674DESLikely benignrs531293539RCV000937182; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285660220285660CT2:g.220285660C>T-
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)1674DESPathogenicrs59962885RCV000018314|RCV000056762|RCV000856836; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:1542220285661220285661GC2:g.220285661G>CClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)1674DESUncertain significancers59962885RCV000423698|RCV000695966; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285661220285661GA2:g.220285661G>AClinGen:CA2125204C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1009G>T (p.Ala337Ser)1674DESUncertain significance-1RCV001977351; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285661220285661GT220285661-
NM_001927.4(DES):c.1010C>A (p.Ala337Asp)1674DESUncertain significancers1954429477RCV001317907; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285662220285662CA220285662-
NM_001927.4(DES):c.1011C>T (p.Ala337=)1674DESLikely benignrs369537705RCV000651550; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285663220285663CT2:g.220285663C>TClinGen:CA2125205C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)1674DESPathogenic/Likely pathogenicrs57496341RCV000056763|RCV000796175; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285665220285665TGNC_000002.11:g.220285665T>GClinGen:CA216999,UniProtKB:P17661#VAR_067209CN517202 not provided;
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)1674DESUncertain significancers57496341RCV000227930; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285665220285665TC2:g.220285665T>CClinGen:CA10581950C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1014G>C (p.Leu338=)1674DESBenignrs12920RCV000037222|RCV000250707|RCV000270208|RCV000293964|RCV000325316|RCV000388336|RCV000710116|RCV001509598; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MedGen:CN517202|MO2220285666220285666GC2:g.220285666G>CClinGen:CA133802CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1017G>C (p.Lys339Asn)1674DESUncertain significancers1954429823RCV001324651; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220285669220285669GC220285669-
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)1674DESUncertain significancers1559353118RCV000696219|RCV001766504; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285671220285671GANC_000002.11:g.220285671G>A-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1022C>T (p.Thr341Ile)1674DESUncertain significancers1338606921RCV001231848; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285674220285674CT2:g.220285674C>T-
NM_001927.4(DES):c.1023+6T>G1674DESUncertain significance-1RCV001359835|RCV001779159; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220285681220285681TG220285681-
NM_001927.4(DES):c.1023+8C>A1674DESLikely benign-1RCV002107937; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285683220285683CA220285683-
NM_001927.4(DES):c.1023+15A>G1674DESLikely benign-1RCV002215769; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220285690220285690AG220285690-
NM_001927.4(DES):c.1024-18G>T1674DESLikely benign-1RCV002084398; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286044220286044GT220286044-
NM_001927.4(DES):c.1024-17T>G1674DESLikely benign-1RCV002200310; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286045220286045TG220286045-
NM_001927.4(DES):c.1024-17T>C1674DESLikely benign-1RCV002145492; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286045220286045TC220286045-
NM_001927.4(DES):c.1024-11dup1674DESBenign-1RCV002197263; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286046220286047TTC220286046-
NM_001927.4(DES):c.1024-14C>T1674DESLikely benign-1RCV002084290; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286048220286048CT220286048-
NM_001927.4(DES):c.1024-11C>A1674DESLikely benign-1RCV002075238; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286051220286051CA220286051-
NM_001927.4(DES):c.1024-9C>T1674DESLikely benignrs201552590RCV000867315|RCV001416080; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286053220286053CT2:g.220286053C>T-
NM_001927.4(DES):c.1024-7C>G1674DESConflicting interpretations of pathogenicityrs779098835RCV000605247|RCV001053183|RCV001703212; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220286055220286055CG2:g.220286055C>GClinGen:CA2125227CN169374 not specified;
NM_001927.4(DES):c.1024-7C>T1674DESLikely benignrs779098835RCV000976805|RCV001392753; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286055220286055CT2:g.220286055C>T-
NM_001927.4(DES):c.1024-3C>A1674DESConflicting interpretations of pathogenicityrs1553603530RCV000605073|RCV000819113; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286059220286059CANC_000002.11:g.220286059C>AClinGen:CA658796175CN169374 not specified;
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)1674DESPathogenicrs267607482RCV000056764|RCV000133502|RCV001380949; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286062220286062AG2:g.220286062A>GClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)1674DESLikely pathogenicrs1954437523RCV001039536; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286063220286064AACGATTC2:g.220286063_220286064insCGATTC-
NM_001927.4(DES):c.1026C>T (p.Asn342=)1674DESBenign/Likely benignrs61731508RCV000037223|RCV000248571|RCV000281168|RCV000336268|RCV000348859|RCV000375457|RCV000459928|RCV000770172|RCV001529517; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN239446|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011072220286064220286064CT2:g.220286064C>TClinGen:CA133805CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)1674DESUncertain significancers763903197RCV000651546|RCV000726231; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220286065220286065GA2:g.220286065G>AClinGen:CA308272C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)1674DESPathogenicrs57639980RCV000018319|RCV000056765|RCV001044194; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286072220286072TC2:g.220286072T>CClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1038G>A (p.Met346Ile)1674DESUncertain significancers778340812RCV000230628; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286076220286076GANC_000002.11:g.220286076G>AClinGen:CA2125228C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1041G>A (p.Arg347=)1674DESLikely benign-1RCV001465931; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286079220286079GA220286079-
NM_001927.4(DES):c.1043A>C (p.Gln348Pro)1674DESPathogenicrs1411703397RCV000755046; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286081220286081ACNC_000002.11:g.220286081A>C-
NM_001927.4(DES):c.1043A>T (p.Gln348Leu)1674DESUncertain significance-1RCV001911786; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286081220286081AT220286081-
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)1674DESPathogenicrs57965306RCV000018329|RCV000056767|RCV000651542; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286087220286087GC2:g.220286087G>CClinGen:CA126906,UniProtKB:P17661#VAR_042454,OMIM:125660.0016C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)1674DESUncertain significancers57965306RCV000732254|RCV001067513; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286087220286087GANC_000002.11:g.220286087G>A-
NM_001927.4(DES):c.1049G>T (p.Arg350Leu)1674DESUncertain significancers57965306RCV001225519; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286087220286087GT2:g.220286087G>T-
NM_001927.4(DES):c.1050G>A (p.Arg350=)1674DESConflicting interpretations of pathogenicityrs769505280RCV000591558|RCV001495092; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286088220286088GA2:g.220286088G>AClinGen:CA2125231CN169374 not specified;
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)1674DESUncertain significancers775085773RCV001218064; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286093220286093TC2:g.220286093T>C-
NM_001927.4(DES):c.1059G>A (p.Glu353=)1674DESLikely benignrs1575014856RCV000982260|RCV001418497; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286097220286097GA2:g.220286097G>A-
NM_001927.4(DES):c.1063C>G (p.Arg355Gly)1674DESUncertain significancers762808690RCV000793550; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286101220286101CG2:g.220286101C>G-
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)1674DESConflicting interpretations of pathogenicityrs61368398RCV000056768|RCV000664050|RCV000799745; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286102220286102GCNC_000002.11:g.220286102G>CClinGen:CA217005,UniProtKB:P17661#VAR_042455C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)1674DESUncertain significancers61368398RCV000456946|RCV000480721; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220286102220286102GANC_000002.11:g.220286102G>AClinGen:CA2125234C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1078G>C (p.Ala360Pro)1674DESPathogenicrs121913000RCV000018315; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286116220286116GC2:g.220286116G>CClinGen:CA257642,UniProtKB:P17661#VAR_007901,OMIM:125660.0002C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)1674DESUncertain significance-1RCV002027221; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286116220286116GT220286116-
NM_001927.4(DES):c.1079C>T (p.Ala360Val)1674DESUncertain significancers141592925RCV001314645; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286117220286117CT220286117-
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)1674DESPathogenicrs1575014889RCV000987036; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286127220286144ACCAGGACAACATTGCGCGA2:g.220286127_220286144del-
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)1674DESUncertain significancers1224165687RCV001349920; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286128220286128CA220286128-
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)1674DESPathogenic-1RCV001960550; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286128220286128CT220286128-
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)1674DESUncertain significancers58687088RCV000018326|RCV000056771|RCV001316353; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286132220286134GACAG2:g.220286132_220286134delClinGen:CA217012,OMIM:125660.0013C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1099A>C (p.Ile367Leu)1674DESUncertain significancers62636494RCV001303801; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286137220286137AC220286137-
NM_001927.4(DES):c.1100T>C (p.Ile367Thr)1674DESUncertain significancers1480755998RCV000595412|RCV000796751; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286138220286138TCNC_000002.11:g.220286138T>CClinGen:CA350694218CN169374 not specified;
NM_001927.4(DES):c.1101T>C (p.Ile367=)1674DESLikely benignrs1575014904RCV000943699|RCV001457398; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286139220286139TC2:g.220286139T>C-
NM_001927.4(DES):c.1103C>T (p.Ala368Val)1674DESUncertain significancers371830218RCV001049965; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286141220286141CT2:g.220286141C>T-
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val)1674DESUncertain significance-1RCV001967470; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286141220286142CGTA220286141-
NM_001927.4(DES):c.1104G>A (p.Ala368=)1674DESBenignrs1058284RCV000037225|RCV000242476|RCV000305879|RCV000342152|RCV000403379|RCV000405738|RCV000710117|RCV001509599; NMedGen:CN169374|MedGen:CN230736|MedGen:CN239446|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MO2220286142220286142GA2:g.220286142G>AClinGen:CA133811CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys)1674DESUncertain significance-1RCV001997171; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286142220286143GCAT220286142-
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)1674DESUncertain significancers1475674849RCV000590176|RCV000706363; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286143220286143CTNC_000002.11:g.220286143C>TClinGen:CA350694256C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1106G>T (p.Arg369Leu)1674DESUncertain significance-1RCV001362569; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286144220286144GT220286144-
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)1674DESPathogenicrs59308628RCV000056773|RCV001043598; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286147220286147TC2:g.220286147T>CClinGen:CA217018,UniProtKB:P17661#VAR_042457C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)1674DESUncertain significance-1RCV001360049; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286148220286150TGGAT220286147-
NM_001927.4(DES):c.1116G>A (p.Glu372=)1674DESLikely benign-1RCV002178666; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286154220286154GA220286154-
NM_001927.4(DES):c.1119A>C (p.Glu373Asp)1674DESUncertain significancers780628142RCV001058783; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286157220286157AC2:g.220286157A>C-
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)1674DESUncertain significancers375218723RCV000544077|RCV001197235|RCV001256941|RCV001580010; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751|MedGen:CN512220286161220286161CT2:g.220286161C>TClinGen:CA308275C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1132_1153del (p.Lys378fs)1674DESPathogenicrs1575014943RCV000794311; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286168220286189CTCAAGGATGAGATGGCCCGCCAC2:g.220286168_220286189del-
NM_001927.4(DES):c.1130T>C (p.Leu377Pro)1674DESLikely pathogenic-1RCV001975552; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286168220286168TC220286168-
NM_001927.4(DES):c.1133A>G (p.Lys378Arg)1674DESUncertain significance-1RCV001980651; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286171220286171AG220286171-
NM_001927.4(DES):c.1134G>A (p.Lys378=)1674DESLikely benignrs1575014950RCV000937358; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286172220286172GA2:g.220286172G>A-
NM_001927.4(DES):c.1142T>C (p.Met381Thr)1674DESUncertain significancers779749720RCV001042104; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286180220286180TC2:g.220286180T>C-
NM_001927.4(DES):c.1144G>A (p.Ala382Thr)1674DESUncertain significancers1954441688RCV001236253; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286182220286182GA2:g.220286182G>A-
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)1674DESUncertain significancers748945548RCV001043088|RCV001528706; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220286185220286185CT2:g.220286185C>T-
NM_001927.4(DES):c.1147C>A (p.Arg383Ser)1674DESUncertain significance-1RCV001976802; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286185220286185CA220286185-
NM_001927.4(DES):c.1148G>A (p.Arg383His)1674DESUncertain significancers1292042317RCV000596564|RCV001071277; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286186220286186GA2:g.220286186G>AClinGen:CA350694581CN169374 not specified;
NM_001927.4(DES):c.1148G>C (p.Arg383Pro)1674DESUncertain significancers1292042317RCV001059163; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286186220286186GC2:g.220286186G>C-
NM_001927.4(DES):c.1151A>G (p.His384Arg)1674DESLikely pathogenicrs1553603566RCV000625841; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286189220286189AGNC_000002.11:g.220286189A>GClinGen:CA350694607C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1153C>G (p.Leu385Val)1674DESUncertain significance-1RCV002012418; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286191220286191CG220286191-
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)1674DESPathogenicrs57955682RCV000018323|RCV000056775; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220286192220286192TC2:g.220286192T>CClinGen:CA217023,UniProtKB:P17661#VAR_018771,OMIM:125660.0010C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1156C>T (p.Arg386Cys)1674DESUncertain significance-1RCV001962221; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286194220286194CT220286194-
NM_001927.4(DES):c.1158C>T (p.Arg386=)1674DESConflicting interpretations of pathogenicityrs774323736RCV000290385|RCV000725757|RCV000651545|RCV001171070; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678482220286196220286196CT2:g.220286196C>TClinGen:CA2125250C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1158_1160del (p.Glu387del)1674DESUncertain significancers1559353314RCV000686082|RCV001592862; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220286196220286198GCGAGNC_000002.11:g.220286196_220286198del-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1159G>A (p.Glu387Lys)1674DESUncertain significancers865961434RCV000234622; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286197220286197GANC_000002.11:g.220286197G>AClinGen:CA10581951C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)1674DESPathogenic/Likely pathogenicrs121913004RCV000018324|RCV000056776; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220286204220286204AC2:g.220286204A>CClinGen:CA217025,UniProtKB:P17661#VAR_018772,OMIM:125660.0011C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)1674DESUncertain significancers1954443135RCV001307759; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286210220286210TC220286210-
NM_001927.4(DES):c.1172T>G (p.Leu391Arg)1674DESUncertain significancers1954443135RCV001324035; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286210220286210TG220286210-
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)1674DESPathogenic/Likely pathogenicrs121913001RCV000018316|RCV000056778; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220286216220286216AT2:g.220286216A>TClinGen:CA217030,UniProtKB:P17661#VAR_007902,OMIM:125660.0003C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1179C>T (p.Asn393=)1674DESLikely benignrs955390251RCV000651551; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286217220286217CTNC_000002.11:g.220286217C>TClinGen:CA65983651C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1180G>A (p.Val394Met)1674DESConflicting interpretations of pathogenicityrs776786349RCV000335144|RCV001171071|RCV001441657; NMedGen:CN517202|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286218220286218GA2:g.220286218G>AClinGen:CA2125253C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1180G>T (p.Val394Leu)1674DESUncertain significancers776786349RCV000693973; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286218220286218GT2:g.220286218G>T-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1185G>A (p.Lys395=)1674DESLikely benign-1RCV002213719; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286223220286223GA220286223-
NM_001927.4(DES):c.1189G>T (p.Ala397Ser)1674DESUncertain significance-1RCV002000467; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286227220286227GT220286227-
NM_001927.4(DES):c.1191C>T (p.Ala397=)1674DESLikely benign-1RCV001453521; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286229220286229CT220286229-
NM_001927.4(DES):c.1193T>C (p.Leu398Pro)1674DESUncertain significancers796115330RCV001234016|RCV001780170; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220286231220286231TC2:g.220286231T>C-
NM_001927.4(DES):c.1193del (p.Leu398fs)1674DESUncertain significance-1RCV001941271; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286231220286231CTC220286230-
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)1674DESLikely pathogenicrs61130669RCV000056779|RCV000449603; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286233220286233GT2:g.220286233G>TClinGen:CA217032,UniProtKB:P17661#VAR_067210C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)1674DESLikely pathogenicrs57694264RCV000056780|RCV001064294; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286239220286239GA2:g.220286239G>AClinGen:CA284671,UniProtKB:P17661#VAR_067211CN517202 not provided;
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)1674DESUncertain significancers1954444202RCV001245293; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286240220286240AG2:g.220286240A>G-
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)1674DESUncertain significancers1553603571RCV000802498; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286243220286243TC2:g.220286243T>C-
NM_001927.4(DES):c.1205T>G (p.Ile402Ser)1674DESUncertain significancers1553603571RCV001300566; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286243220286243TG220286243-
NM_001927.4(DES):c.1209C>T (p.Ala403=)1674DESLikely benign-1RCV001405896; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286247220286247CT220286247-
NM_001927.4(DES):c.1213del (p.Tyr405fs)1674DESPathogenicrs886043080RCV000283285|RCV000696661; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286251220286251CTC2:g.220286251_220286251delClinGen:CA10605083C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)1674DESLikely pathogenic-1RCV002010793; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286252220286252AC220286252-
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)1674DESPathogenic/Likely pathogenicrs121913003RCV000018320|RCV000056781|RCV000627795|RCV001798009|RCV001787806; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,Med2220286254220286254CT2:g.220286254C>TClinGen:CA257646,UniProtKB:P17661#VAR_042458,OMIM:125660.0007C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)1674DESUncertain significancers1057520275RCV000437250|RCV001313201; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286255220286255GA2:g.220286255G>AClinGen:CA16604146CN517202 not provided;
NM_001927.4(DES):c.1219A>C (p.Lys407Gln)1674DESUncertain significancers1553603573RCV000551956; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286257220286257ACNC_000002.11:g.220286257A>CClinGen:CA350695023C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1224G>A (p.Leu408=)1674DESLikely benign-1RCV002202461; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286262220286262GA220286262-
NM_001927.4(DES):c.1227G>A (p.Leu409=)1674DESLikely benignrs143954788RCV000618446|RCV001443001; NMedGen:CN230736|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286265220286265GANC_000002.11:g.220286265G>AClinGen:CA2125256CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1227G>T (p.Leu409=)1674DESLikely benign-1RCV001446733; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286265220286265GT220286265-
NM_001927.4(DES):c.1228G>A (p.Glu410Lys)1674DESUncertain significance-1RCV001372037; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286266220286266GA220286266-
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)1674DESPathogenic/Likely pathogenicrs61726467RCV000056782|RCV000685786; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286275220286275GA2:g.220286275G>AClinGen:CA284673C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)1674DESPathogenicrs61726467RCV000792525; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286275220286275GT2:g.220286275G>T-
NM_001927.4(DES):c.1238A>G (p.Glu413Gly)1674DESUncertain significancers1954445270RCV001229059; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286276220286276AG2:g.220286276A>G-
NM_001927.4(DES):c.1243del (p.Arg415fs)1674DESUncertain significancers1954445390RCV001059576; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286280220286280GCG2:g.220286280_220286280del-
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)1674DESUncertain significancers751942358RCV000532526|RCV000656841|RCV001824665; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:152220286281220286281CT2:g.220286281C>TClinGen:CA308281C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)1674DESUncertain significance-1RCV001367750|RCV001762638; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220286281220286281CG220286281-
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)1674DESUncertain significancers1262288015RCV000770173|RCV001352202; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220286282220286282GANC_000002.11:g.220286282G>A-
NM_001927.4(DES):c.1244+20C>T1674DESLikely benign-1RCV002162444; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220286302220286302CT220286302-
NC_000002.11:g.(?_220288441)_(220288541_?)dup1674DESUncertain significance-1RCV001877605; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288441220288541nana-1-
NM_001927.4(DES):c.1250A>G (p.Asn417Ser)1674DESUncertain significancers376141178RCV001243751; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220288504220288504AG2:g.220288504A>G-
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)1674DESPathogenicrs1553603732RCV000625960|RCV001531343; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220288506220288522TCTCCCCATCCAGACCTATNC_000002.11:g.220288509_220288525delClinGen:CA658796176C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)1674DESPathogenic/Likely pathogenicrs62635763RCV000032923|RCV000056783|RCV000817811; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288509220288509CTNC_000002.11:g.220288509C>TClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1255C>A (p.Pro419Thr)1674DESUncertain significancers62635763RCV000546121; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288509220288509CANC_000002.11:g.220288509C>AClinGen:CA350696531C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1257C>T (p.Pro419=)1674DESConflicting interpretations of pathogenicityrs143154982RCV000424202|RCV000558527|RCV000726966; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220288511220288511CT2:g.220288511C>TClinGen:CA2125278C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)1674DESUncertain significance-1RCV001762979|RCV002032785; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288512220288512AC220288512-
NM_001927.4(DES):c.1262A>G (p.Gln421Arg)1674DESUncertain significancers756613339RCV000692846; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288516220288516AGNC_000002.11:g.220288516A>G-C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1266C>A (p.Thr422=)1674DESLikely benign-1RCV001455681; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220288520220288520CA220288520-
NM_001927.4(DES):c.1269C>T (p.Tyr423=)1674DESLikely benignrs765867148RCV000862321|RCV001798993; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678482220288523220288523CT2:g.220288523C>T-
NM_001927.4(DES):c.1272T>C (p.Ser424=)1674DESLikely benignrs370720293RCV000863266|RCV001417835; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288526220288526TC2:g.220288526T>C-
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr)1674DESUncertain significancers1954488237RCV001238514; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220288533220288533AT2:g.220288533A>T-
NM_001927.4(DES):c.1281C>T (p.Asn427=)1674DESLikely benign-1RCV001442427; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220288535220288535CT220288535-
NM_001927.4(DES):c.1285del (p.Arg429fs)1674DESUncertain significancers1954488513RCV001321639; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288538220288538TCT220288537-
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)1674DESPathogenic/Likely pathogenicrs150974575RCV000154519|RCV000327525|RCV001059931; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0019056,MedGen:C0027868, Orphanet:68381; EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype2220288539220288539CTNC_000002.11:g.220288539C>TClinGen:CA273504C2678065 Myofibrillar myopathy;
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)1674DESUncertain significancers200580581RCV000357490|RCV000694336|RCV000617457; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN2307362220288540220288540GA2:g.220288540G>AClinGen:CA2125285CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1288G>C (p.Glu430Gln)1674DESUncertain significance-1RCV002042919; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288542220288542GC220288542-
NM_001927.4(DES):c.1288+1G>A1674DESLikely pathogenicrs112224037RCV000792330; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220288543220288543GA2:g.220288543G>A-
NM_001927.4(DES):c.1288+11G>A1674DESLikely benign-1RCV002071240; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220288553220288553GA220288553-
NM_001927.4(DES):c.1288+20C>T1674DESConflicting interpretations of pathogenicityrs200657337RCV000422712|RCV001865334; NMedGen:CN169374|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220288562220288562CT2:g.220288562C>TClinGen:CA2125290CN169374 not specified;
NM_001927.4(DES):c.1289-19G>T1674DESLikely benign-1RCV002079469; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290366220290366GT220290366-
NM_001927.4(DES):c.1289-18C>T1674DESLikely benign-1RCV002146931; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290367220290367CT220290367-
NM_001927.4(DES):c.1289-2A>G1674DESPathogenic/Likely pathogenicrs398122940RCV000050215|RCV001814034|RCV001781382; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|MedGen:CN5172022220290383220290383AG2:g.220290383A>GClinGen:CA144512,OMIM:125660.0018C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1293C>T (p.Thr431=)1674DESLikely benign-1RCV002108600; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290389220290389CT220290389-
NM_001927.4(DES):c.1300G>A (p.Glu434Lys)1674DESUncertain significancers952020807RCV000795953; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290396220290396GA2:g.220290396G>A-
NM_001927.4(DES):c.1310G>A (p.Gly437Asp)1674DESUncertain significancers878854471RCV000228426; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290406220290406GA2:g.220290406G>AClinGen:CA10581952C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1312T>G (p.Ser438Ala)1674DESUncertain significancers1553603818RCV000534573; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290408220290408TGNC_000002.11:g.220290408T>GClinGen:CA350698434C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1317G>A (p.Glu439=)1674DESLikely benign-1RCV002109938; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290413220290413GA220290413-
NM_001927.4(DES):c.1322A>T (p.His441Leu)1674DESUncertain significancers1064796937RCV000479938|RCV000695478; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290418220290418AT2:g.220290418A>TClinGen:CA16617481C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1323T>G (p.His441Gln)1674DESUncertain significancers751325263RCV001229432; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290419220290419TG2:g.220290419T>G-
NM_001927.4(DES):c.1324A>C (p.Thr442Pro)1674DESUncertain significance-1RCV001912313; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290420220290420AC220290420-
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)1674DESPathogenicrs121913005RCV000018328|RCV000056784|RCV000811753; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290421220290421CTNC_000002.11:g.220290421C>TClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)1674DESUncertain significancers121913005RCV000770174|RCV001248642|RCV001562308; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220290421220290421CANC_000002.11:g.220290421C>A-
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)1674DESUncertain significancers267607498RCV000056785|RCV001854165; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290429220290429AG2:g.220290429A>GClinGen:CA284676CN517202 not provided;
NM_001927.4(DES):c.1335G>A (p.Thr445=)1674DESLikely benign-1RCV001401019; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290431220290431GA220290431-
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)1674DESPathogenic/Likely pathogenicrs267607485RCV000056786|RCV000239724|RCV001854166; NMedGen:CN517202|Human Phenotype Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419, Orphanet:593|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290442220290442AC2:g.220290442A>CClinGen:CA217038,UniProtKB:P17661#VAR_042461C2678065 Myofibrillar myopathy;
NM_001927.4(DES):c.1353C>G (p.Ile451Met)1674DESConflicting interpretations of pathogenicityrs121913002RCV000018318|RCV000056787|RCV000698481|RCV001140632|RCV001140631; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85142220290449220290449CG2:g.220290449C>GClinGen:CA257644,UniProtKB:P17661#VAR_018773,OMIM:125660.0005C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.1353C>T (p.Ile451=)1674DESConflicting interpretations of pathogenicityrs121913002RCV000219399|RCV000252451|RCV000725063|RCV001085732|RCV001798700; NMedGen:CN169374|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:1678482220290449220290449CT2:g.220290449C>TClinGen:CA2125305CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1354_1358del (p.Glu452fs)1674DESUncertain significancers1060503171RCV000456554; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290449220290453TCGAGATNC_000002.11:g.220290450_220290454delClinGen:CA16610722C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)1674DESUncertain significancers267607488RCV000056788|RCV001854167; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290454220290454CT2:g.220290454C>TClinGen:CA217040CN517202 not provided;
NM_001927.4(DES):c.1359A>C (p.Thr453=)1674DESLikely benign-1RCV001467657; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290455220290455AC220290455-
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)1674DESPathogenic/Likely pathogenicrs267607490RCV000056789|RCV000155027|RCV000211712|RCV000498999|RCV000684771|RCV000844627; NMedGen:CN517202|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phen2220290456220290456CTNC_000002.11:g.220290456C>TClinGen:CA217043,UniProtKB:P17661#VAR_042462C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)1674DESUncertain significancers541585670RCV000171885|RCV001852085; NMedGen:CN517202|MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290457220290457GA2:g.220290457G>AClinGen:CA302358CN517202 not provided;
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)1674DESUncertain significancers397516690RCV000037231|RCV001852772; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290462220290462GA2:g.220290462G>AClinGen:CA133826CN169374 not specified;
NM_001927.4(DES):c.1368G>A (p.Gly456=)1674DESLikely benign-1RCV002109037; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290464220290464GA220290464-
NM_001927.4(DES):c.1371+1G>A1674DESConflicting interpretations of pathogenicityrs748323823RCV000183362|RCV000223904|RCV000458158|RCV000622142; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN2307362220290468220290468GA2:g.220290468G>AClinGen:CA308296CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1371+2dup1674DESUncertain significance-1RCV001950436; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290468220290469GGT220290468-
NM_001927.4(DES):c.1371+13T>G1674DESLikely benign-1RCV002145378; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290480220290480TG220290480-
NM_001927.4(DES):c.1372-15T>A1674DESLikely benign-1RCV002145464; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290656220290656TA220290656-
NM_001927.4(DES):c.1372-3dup1674DESConflicting interpretations of pathogenicityrs876657769RCV000220968|RCV000824726|RCV001440302; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290664220290665TTCNC_000002.11:g.220290668dupClinGen:CA2125316CN169374 not specified;
NM_001927.4(DES):c.1372-7T>C1674DESLikely benign-1RCV002078627; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290664220290664TC220290664-
NM_001927.4(DES):c.1374C>T (p.Val458=)1674DESLikely benignrs727502952RCV000150383|RCV001458336; NMedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290673220290673CT2:g.220290673C>TClinGen:CA175626CN169374 not specified;
NM_001927.4(DES):c.1383G>A (p.Glu461=)1674DESLikely benign-1RCV002218781; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290682220290682GA220290682-
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)1674DESUncertain significancers1060503170RCV000471643|RCV001770353; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543|MedGen:CN5172022220290684220290685CCAGNC_000002.11:g.220290684_220290685delinsAGClinGen:CA16610673C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1390C>T (p.Gln464Ter)1674DESUncertain significance-1RCV001912944; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290689220290689CT220290689-
NM_001927.4(DES):c.1404A>G (p.Glu468=)1674DESConflicting interpretations of pathogenicityrs397516691RCV000037233|RCV000725821|RCV001078786; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290703220290703AG2:g.220290703A>GClinGen:CA133829C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1407G>A (p.Val469=)1674DESLikely benign-1RCV001435627; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290706220290706GA220290706-
NM_001927.4(DES):c.1408C>T (p.Leu470Phe)1674DESUncertain significancers1060503172RCV000473464; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290707220290707CTNC_000002.11:g.220290707C>TClinGen:CA16610675C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1409T>C (p.Leu470Pro)1674DESUncertain significancers1954528633RCV001220826; NMONDO:MONDO:0014129,MedGen:C3809137, Orphanet:363543; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290708220290708TC2:g.220290708T>C-
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)1674DESConflicting interpretations of pathogenicityrs886044329RCV000296486|RCV000810748; NMedGen:CN517202|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909; MONDO:MONDO:0014129,MedGen:C3809137, Orphanet:3635432220290710220290710TCNC_000002.11:g.220290710T>CClinGen:CA10606626C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.*51C>A1674DESConflicting interpretations of pathogenicityrs372291142RCV001142495|RCV001142496|RCV001142497; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220290763220290763CA2:g.220290763C>A-
NM_001927.4(DES):c.*112C>G1674DESConflicting interpretations of pathogenicityrs540351476RCV001142498|RCV001142499|RCV001142500; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220290824220290824CG2:g.220290824C>G-
NM_001927.4(DES):c.*114G>T1674DESUncertain significancers755277387RCV001137741|RCV001137742|RCV001137743; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:1542220290826220290826GT2:g.220290826G>T-
NM_001927.4(DES):c.*198G>A1674DESConflicting interpretations of pathogenicityrs560055588RCV000276898|RCV000333057|RCV000362180|RCV000369044; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN2394462220290910220290910GA2:g.220290910G>AClinGen:CA10612866CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*280G>A1674DESUncertain significancers925513578RCV001139973|RCV001139974|RCV001139975; NMONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:1542220290992220290992GA2:g.220290992G>A-
NM_001927.4(DES):c.*295G>A1674DESUncertain significancers1954536782RCV001139976|RCV001139978|RCV001139977; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220291007220291007GA2:g.220291007G>A-
NM_001927.4(DES):c.*308C>A1674DESConflicting interpretations of pathogenicityrs140222667RCV001140732|RCV001140733|RCV001140734; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220291020220291020CA2:g.220291020C>A-
NM_001927.4(DES):c.*428G>C1674DESUncertain significancers886055654RCV000274488|RCV000280128|RCV000320189|RCV000374631; NMedGen:CN239446|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:851462220291140220291140GC2:g.220291140G>CClinGen:CA10612489CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*468G>T1674DESBenign/Likely benignrs73085265RCV000285808|RCV000316561|RCV000340737|RCV000380488|RCV001618590; NMedGen:CN239446|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220291180220291180GT2:g.220291180G>TClinGen:CA10612867CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*475T>G1674DESBenign/Likely benignrs138913201RCV001142600|RCV001142602|RCV001142601; NMONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220291187220291187TG2:g.220291187T>G-
NM_001927.4(DES):c.*489G>A1674DESUncertain significancers886055655RCV000291587|RCV000346727|RCV000405252|RCV000405516; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MedGen:CN239446|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220291201220291201GA2:g.220291201G>AClinGen:CA10614400CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*559G>A1674DESConflicting interpretations of pathogenicityrs547498920RCV000307082|RCV000311255|RCV000371046|RCV000395626; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MedGen:CN239446|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220291271220291271GA2:g.220291271G>AClinGen:CA10614232CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*588G>A1674DESUncertain significancers746886224RCV000316883|RCV000352997|RCV000356739|RCV000261721; NHuman Phenotype Ontology:HP:0003704,MedGen:C1842161|MedGen:CN239446|MedGen:CN239310|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:989092220291300220291300GA2:g.220291300G>AClinGen:CA10612490CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*662G>A1674DESBenign/Likely benignrs116635264RCV000267489|RCV000283176|RCV000322638|RCV000377719|RCV001778926; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN239446|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154|MedGen:CN5172022220291374220291374GA2:g.220291374G>AClinGen:CA10614241CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*695C>T1674DESUncertain significancers1452548510RCV001140094|RCV001140096|RCV001140095; NMONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:1542220291407220291407CT2:g.220291407C>T-
NM_001927.3(DES):c.*762T>C1674DESBenignrs11685408RCV000260303|RCV000300241|RCV000357448|RCV000401842|RCV001653773; NHuman Phenotype Ontology:HP:0003704,MedGen:C1842161|MedGen:CN239310|MedGen:CN239446|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:98909|MedGen:CN5172022220291474220291474TC2:g.220291474T>CClinGen:CA10654620CN239310 Dilated Cardiomyopathy, Dominant;
MSeqDR Portal