MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Myopathies, Structural, Congenital (D020914)
..Starting node ..Myofibrillar Myopathy (C580316)
Child Nodes:
........MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
........MYOPATHY, SPHEROID BODY (OMIM:182920)
Sister Nodes:
..Actin-Accumulation Myopathy (C579880)
..Cap Myopathy (C579969)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Myofibrillar Myopathy (C580316) 1
..Myopathies, Nemaline (D017696) 9
..Myopathy, Central Core (D020512) 3
..Myopathy, Centronuclear, Autosomal Recessive (C562934)
..Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked (C567594)
..Myopathy, Myofibrillar, Bag3-Related (C567843)
..Myosclerosis, Autosomal Recessive (C564968)
..Myotilinopathy (C563775)
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Pleoconial Myopathy with Salt Craving (C564883)
..Spheroid body myopathy (C000598645)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: BAG3; DES; LDB3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003694	Late-onset proximal muscle weakness
4	HP:0011675	Arrhythmia NAMDC: Cardiac conduction block
5	HP:0001283	Bulbar palsy
6	HP:0002019	Constipation
7	HP:0002014	Diarrhea
8	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
9	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
10	HP:0003458	EMG: myopathic abnormalities
11	HP:0010628	Facial palsy
12	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
13	HP:0002600	Hyporeflexia of lower limbs
14	HP:0000467	Neck muscle weakness
15	HP:0003812	Phenotypic variability
16	HP:0002747	Respiratory insufficiency due to muscle weakness
17	HP:0005130	Restrictive heart failure
18	HP:0011663	Right ventricular cardiomyopathy	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000002.11:g.(?_219135239)_(220290732_?)del	1674	DES	Pathogenic	-1	RCV000707774;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	219135239	220290732		-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.-74C>T	1674	DES	Uncertain significance	886055653	RCV000262437\|RCV000297648\|RCV000354916\|RCV002265736;	N	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:363543, Orphanet:98909	2	220283111	220283111	2:g.220283111C>T	ClinGen:CA10612860	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.-54C>T	1674	DES	Uncertain significance	1954355610	RCV001137306\|RCV001142067\|RCV002265944;	N	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:363543, Orphanet:98909	2	220283131	220283131	2:g.220283131C>T	-
NM_001927.4(DES):c.-44G>A	1674	DES	Benign/Likely benign	184826121	RCV000183342\|RCV000275289\|RCV000333461\|RCV000386055\|RCV002265669;	N	MedGen: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:363543, Orphanet:98909	2	220283141	220283141	2:g.220283141G>A	ClinGen:CA308252	CN239310 Dilated Cardiomyopathy, Dominant;
NC_000002.12:g.(?_219418453)_(219426000_?)del	1674	DES	Pathogenic	-1	RCV001032226;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283175	220290722	-1	-
NM_001927.4(DES):c.-6G>A	1674	DES	Uncertain significance	774967446	RCV000283203\|RCV000289026\|RCV000327635\|RCV001293589\|RCV002265737;	N	MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN239446\|MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283179	220283179	2:g.220283179G>A	ClinGen:CA2125001	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.1A>G (p.Met1Val)	1674	DES	Likely pathogenic	1057523274	RCV000417495\|RCV001217218;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283185	220283185	NC_000002.11:g.220283185A>G	ClinGen:CA16604392	C1832370 601419 Myofibrillar myopathy 1;
NC_000002.11:g.(?_220283185)_(220290712_?)del	1674	DES	Pathogenic	-1	RCV003107555;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283185	220290712		-
NM_001927.4(DES):c.2T>C (p.Met1Thr)	1674	DES	Likely pathogenic	2125165615	RCV001377481;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283186	220283186	220283186	-
NM_001927.4(DES):c.5G>T (p.Ser2Ile)	1674	DES	Uncertain significance	58999456	RCV000056804\|RCV000794180;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283189	220283189	NC_000002.11:g.220283189G>T	ClinGen:CA217078,UniProtKB:P17661#VAR_042448	CN517202 not provided;
NM_001927.4(DES):c.7C>T (p.Gln3Ter)	1674	DES	Pathogenic	1954358233	RCV001037267;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283191	220283191	2:g.220283191C>T	-
NM_001927.4(DES):c.8A>G (p.Gln3Arg)	1674	DES	Uncertain significance	1954358286	RCV001325781;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283192	220283192	220283192	-
NM_001927.4(DES):c.10G>A (p.Ala4Thr)	1674	DES	Uncertain significance	1239304442	RCV001363051;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283194	220283194	220283194	-
NM_001927.4(DES):c.11C>A (p.Ala4Asp)	1674	DES	Uncertain significance	-1	RCV003042318;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283195	220283195	NC_000002.11:g.220283195C>A	-
NM_001927.4(DES):c.12C>A (p.Ala4=)	1674	DES	Likely benign	762566962	RCV000467673\|RCV000617744\|RCV001721540;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900	2	220283196	220283196	NC_000002.11:g.220283196C>A	ClinGen:CA2125002	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.12C>G (p.Ala4=)	1674	DES	Likely benign	762566962	RCV001419585;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283196	220283196	220283196	-
NM_001927.4(DES):c.17C>T (p.Ser6Leu)	1674	DES	Uncertain significance	1214936508	RCV000693314;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283201	220283201	NC_000002.11:g.220283201C>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.17C>G (p.Ser6Trp)	1674	DES	Uncertain significance	1214936508	RCV001962629\|RCV002407124;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283201	220283201	220283201	-
NM_001927.4(DES):c.22A>G (p.Ser8Gly)	1674	DES	Uncertain significance	-1	RCV002800305;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283206	220283206	NC_000002.11:g.220283206A>G	-
NM_001927.4(DES):c.28C>A (p.Arg10Ser)	1674	DES	Uncertain significance	1196125127	RCV000651547;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283212	220283212	2:g.220283212C>A	ClinGen:CA350682178	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.28C>T (p.Arg10Cys)	1674	DES	Uncertain significance	1196125127	RCV001823813\|RCV001869824;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283212	220283212	220283212	-
NM_001927.4(DES):c.29G>A (p.Arg10His)	1674	DES	Uncertain significance	757839952	RCV001863643;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283213	220283213	220283213	-
NM_001927.4(DES):c.30C>T (p.Arg10=)	1674	DES	Likely benign	886042179	RCV001965264;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283214	220283214	220283214	-
NM_001927.4(DES):c.36C>T (p.Ser12=)	1674	DES	Likely benign	-1	RCV003092736;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283220	220283220		-
NM_001927.4(DES):c.37T>C (p.Ser13Pro)	1674	DES	Uncertain significance	1954359599	RCV001299265\|RCV003166680;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283221	220283221	220283221	-
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)	1674	DES	Uncertain significance	62636495	RCV000651549\|RCV000730717;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283222	220283222	2:g.220283222C>A	ClinGen:CA350682283	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.40T>C (p.Tyr14His)	1674	DES	Uncertain significance	750819338	RCV001933052\|RCV002324326;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283224	220283224	220283224	-
NM_001927.4(DES):c.43C>A (p.Arg15Ser)	1674	DES	Uncertain significance	756390565	RCV001903577\|RCV003146333;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283227	220283227	220283227	-
NM_001927.4(DES):c.43C>T (p.Arg15Cys)	1674	DES	Uncertain significance	756390565	RCV001965707;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283227	220283227	220283227	-
NM_001927.4(DES):c.45C>T (p.Arg15=)	1674	DES	Likely benign	1575012917	RCV000981307;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283229	220283229	2:g.220283229C>T	-
NM_001927.4(DES):c.46C>A (p.Arg16Ser)	1674	DES	Uncertain significance	60798368	RCV001867087;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283230	220283230	220283230	-
NM_001927.4(DES):c.49A>T (p.Thr17Ser)	1674	DES	Uncertain significance	1342928312	RCV001997968;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283233	220283233	220283233	-
NM_001927.4(DES):c.49A>C (p.Thr17Pro)	1674	DES	Uncertain significance	-1	RCV003033579;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283233	220283233	NC_000002.11:g.220283233A>C	-
NM_001927.4(DES):c.50C>A (p.Thr17Asn)	1674	DES	Uncertain significance	1954360300	RCV001339441;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283234	220283234	220283234	-
NM_001927.4(DES):c.54C>T (p.Phe18=)	1674	DES	Likely benign	1420981881	RCV002093434\|RCV003222388;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283238	220283238	220283238	-
NM_001927.4(DES):c.55G>C (p.Gly19Arg)	1674	DES	Uncertain significance	936853024	RCV000595015\|RCV000697037\|RCV002350423;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283239	220283239	2:g.220283239G>C	ClinGen:CA65980591	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.58G>A (p.Gly20Arg)	1674	DES	Uncertain significance	759306707	RCV000461350;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283242	220283242	NC_000002.11:g.220283242G>A	ClinGen:CA16610716	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.59G>A (p.Gly20Glu)	1674	DES	Uncertain significance	2125165738	RCV001937089;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283243	220283243	220283243	-
NM_001927.4(DES):c.60G>A (p.Gly20=)	1674	DES	Likely benign	1058253	RCV001434324\|RCV002358974;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283244	220283244	220283244	-
NM_001927.4(DES):c.62C>A (p.Ala21Asp)	1674	DES	Uncertain significance	755107287	RCV001057700;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283246	220283246	2:g.220283246C>A	-
NM_001927.4(DES):c.63C>T (p.Ala21=)	1674	DES	Conflicting interpretations of pathogenicity	201458068	RCV000726631\|RCV001086977;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283247	220283247	2:g.220283247C>T	ClinGen:CA2125011	CN169374 not specified;
NM_001927.4(DES):c.65C>G (p.Pro22Arg)	1674	DES	Uncertain significance	748158450	RCV000818028\|RCV002478908;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C186700	2	220283249	220283249	2:g.220283249C>G	-
NM_001927.4(DES):c.66G>A (p.Pro22=)	1674	DES	Conflicting interpretations of pathogenicity	767502653	RCV001065113\|RCV001701283\|RCV002365758;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736	2	220283250	220283250	2:g.220283250G>A	-
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)	1674	DES	Uncertain significance	1287075970	RCV001370041;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283255	220283256	220283255	-
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)	1674	DES	Uncertain significance	-1	RCV001924330;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283258	220283259	220283258	-
NM_001927.4(DES):c.75A>T (p.Pro25=)	1674	DES	Likely benign	1318299	RCV001443270;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283259	220283259	220283259	-
NM_001927.4(DES):c.78C>G (p.Leu26=)	1674	DES	Likely benign	1252527107	RCV002066087\|RCV003311916;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283262	220283262	2:g.220283262C>G	-
NM_001927.4(DES):c.79G>A (p.Gly27Ser)	1674	DES	Uncertain significance	727504877	RCV000156244\|RCV000700537\|RCV000766816\|RCV002415673;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736	2	220283263	220283263	2:g.220283263G>A	ClinGen:CA184448	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.79G>C (p.Gly27Arg)	1674	DES	Uncertain significance	727504877	RCV001911879;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283263	220283263	220283263	-
NM_001927.4(DES):c.80G>A (p.Gly27Asp)	1674	DES	Uncertain significance	1575012966	RCV000799121;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283264	220283264	2:g.220283264G>A	-
NM_001927.4(DES):c.86C>T (p.Pro29Leu)	1674	DES	Uncertain significance	1378987625	RCV001056471;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283270	220283270	2:g.220283270C>T	-
NM_001927.4(DES):c.86C>G (p.Pro29Arg)	1674	DES	Uncertain significance	-1	RCV003085956;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283270	220283270	NC_000002.11:g.220283270C>G	-
NM_001927.4(DES):c.87G>T (p.Pro29=)	1674	DES	Likely benign	2125165803	RCV002168690;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283271	220283271	220283271	-
NM_001927.4(DES):c.88C>T (p.Leu30=)	1674	DES	Likely benign	-1	RCV002982834;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283272	220283272		-
NM_001927.4(DES):c.93T>G (p.Ser31Arg)	1674	DES	Uncertain significance	2017800	RCV000706663\|RCV001567889\|RCV002499277;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:000840	2	220283277	220283277	NC_000002.11:g.220283277T>G	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.99C>T (p.Pro33=)	1674	DES	Benign/Likely benign	774006810	RCV000218133\|RCV000477613\|RCV001080097\|RCV002381728;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283283	220283283	2:g.220283283C>T	ClinGen:CA2125018	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.100G>A (p.Val34Met)	1674	DES	Uncertain significance	-1	RCV002599977\|RCV003143505;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283284	220283284	NC_000002.11:g.220283284G>A	-
NM_001927.4(DES):c.104T>C (p.Phe35Ser)	1674	DES	Uncertain significance	1575012999	RCV000809941;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283288	220283288	2:g.220283288T>C	-
NM_001927.4(DES):c.105C>G (p.Phe35Leu)	1674	DES	Uncertain significance	768166041	RCV001896521\|RCV003146313;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283289	220283289	220283289	-
NM_001927.4(DES):c.106C>T (p.Pro36Ser)	1674	DES	Uncertain significance	-1	RCV002972078;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283290	220283290	NC_000002.11:g.220283290C>T	-
NM_001927.4(DES):c.109C>T (p.Arg37Trp)	1674	DES	Uncertain significance	537881554	RCV000250161\|RCV000594311\|RCV001217854\|RCV003114438\|RCV002494794;	N	MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN169374\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543,O	2	220283293	220283293	2:g.220283293C>T	ClinGen:CA2125022	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.109C>G (p.Arg37Gly)	1674	DES	Uncertain significance	537881554	RCV000481772\|RCV001203491\|RCV002489146;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:000840	2	220283293	220283293	2:g.220283293C>G	ClinGen:CA2125023	CN169374 not specified;
NM_001927.4(DES):c.110G>T (p.Arg37Leu)	1674	DES	Uncertain significance	1954363342	RCV001241290;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283294	220283294	2:g.220283294G>T	-
NM_001927.4(DES):c.112del (p.Ala38fs)	1674	DES	Pathogenic	2125165857	RCV002037926;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283294	220283294	220283293	-
NM_001927.4(DES):c.114G>A (p.Ala38=)	1674	DES	Benign/Likely benign	368901105	RCV000037226\|RCV000464462\|RCV001171065\|RCV001705670\|RCV002453311\|RCV002490504;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OM	2	220283298	220283298	2:g.220283298G>A	ClinGen:CA233898	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.114G>T (p.Ala38=)	1674	DES	Likely benign	368901105	RCV000037227\|RCV000869830\|RCV003162322;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283298	220283298	2:g.220283298G>T	ClinGen:CA133814	CN169374 not specified;
NM_001927.4(DES):c.115G>A (p.Gly39Ser)	1674	DES	Uncertain significance	758434755	RCV001360576\|RCV003298568;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283299	220283299	220283299	-
NM_001927.4(DES):c.123C>T (p.Gly41=)	1674	DES	Likely benign	1575013025	RCV002119968;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283307	220283307	220283307	-
NM_001927.4(DES):c.131G>T (p.Gly44Val)	1674	DES	Uncertain significance	1954364360	RCV001229880;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283315	220283315	2:g.220283315G>T	-
NM_001927.4(DES):c.140G>T (p.Ser47Ile)	1674	DES	Uncertain significance	2125165917	RCV002028294;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283324	220283324	220283324	-
NM_001927.4(DES):c.146T>C (p.Val49Ala)	1674	DES	Uncertain significance	794728989	RCV000183358\|RCV002513952;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283330	220283330	2:g.220283330T>C	ClinGen:CA308287	CN169374 not specified;
NM_001927.4(DES):c.150G>T (p.Thr50=)	1674	DES	Likely benign	1179760415	RCV002390721\|RCV000828053\|RCV001078630;	N	MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283334	220283334	2:g.220283334G>T	-
NM_001927.4(DES):c.154C>A (p.Arg52Ser)	1674	DES	Uncertain significance	794728990	RCV000183359\|RCV000233855\|RCV000251066\|RCV000766841;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:CN517202	2	220283338	220283338	2:g.220283338C>A	ClinGen:CA308290	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.155G>A (p.Arg52His)	1674	DES	Uncertain significance	1372689272	RCV001974775;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283339	220283339	220283339	-
NM_001927.4(DES):c.155G>C (p.Arg52Pro)	1674	DES	Uncertain significance	1372689272	RCV001983810;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283339	220283339	220283339	-
NM_001927.4(DES):c.156C>T (p.Arg52=)	1674	DES	Likely benign	-1	RCV002609384;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283340	220283340		-
NM_001927.4(DES):c.157G>A (p.Val53Met)	1674	DES	Uncertain significance	1393972560	RCV001236636;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283341	220283341	2:g.220283341G>A	-
NM_001927.4(DES):c.157G>T (p.Val53Leu)	1674	DES	Uncertain significance	1393972560	RCV001920816;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283341	220283341	220283341	-
NM_001927.4(DES):c.166G>C (p.Val56Leu)	1674	DES	Uncertain significance	578066781	RCV000183360\|RCV000467504\|RCV000617378\|RCV000766842\|RCV002485225;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765	2	220283350	220283350	2:g.220283350G>C	ClinGen:CA308293	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.166G>T (p.Val56Leu)	1674	DES	Uncertain significance	-1	RCV002664035;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283350	220283350	NC_000002.11:g.220283350G>T	-
NM_001927.4(DES):c.167T>A (p.Val56Glu)	1674	DES	Uncertain significance	1170549656	RCV000594634\|RCV001242921\|RCV001584405\|RCV002404609\|RCV002483625;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543,O	2	220283351	220283351	2:g.220283351T>A	ClinGen:CA350683551	CN169374 not specified;
NM_001927.4(DES):c.170C>T (p.Ser57Leu)	1674	DES	Conflicting interpretations of pathogenicity	372825868	RCV000037234\|RCV000547047\|RCV000586931\|RCV000621896\|RCV001142159\|RCV001142158;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146	2	220283354	220283354	2:g.220283354C>T	ClinGen:CA133832	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.171G>T (p.Ser57=)	1674	DES	Likely benign	-1	RCV002894145;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283355	220283355		-
NM_001927.4(DES):c.176C>T (p.Thr59Met)	1674	DES	Uncertain significance	773826073	RCV001342935;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283360	220283360	220283360	-
NM_001927.4(DES):c.182G>A (p.Gly61Asp)	1674	DES	Uncertain significance	1447436485	RCV001305497\|RCV002493600;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858	2	220283366	220283366	220283366	-
NM_001927.4(DES):c.184G>A (p.Gly62Arg)	1674	DES	Uncertain significance	886044090	RCV000686290\|RCV000726280\|RCV002411171;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736	2	220283368	220283368	2:g.220283368G>A	ClinGen:CA10606335	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.186G>T (p.Gly62=)	1674	DES	Likely benign	1276880158	RCV001057707;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283370	220283370	2:g.220283370G>T	-
NM_001927.4(DES):c.188C>A (p.Ala63Asp)	1674	DES	Uncertain significance	1345937895	RCV001052801;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283372	220283372	2:g.220283372C>A	-
NM_001927.4(DES):c.194dup (p.Leu66fs)	1674	DES	Pathogenic	1370206753	RCV001388769;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283373	220283374	220283373	-
NM_001927.4(DES):c.193G>A (p.Gly65Ser)	1674	DES	Conflicting interpretations of pathogenicity	397516692	RCV000037236\|RCV000515205\|RCV000724220\|RCV000805979\|RCV001137423\|RCV001137421;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:C3661900\|MONDO:MONDO:001107	2	220283377	220283377	NC_000002.11:g.220283377G>A	ClinGen:CA133838	C1865925 602067 Dilated cardiomyopathy 1F;
NM_001927.4(DES):c.195C>T (p.Gly65=)	1674	DES	Likely benign	1256584430	RCV000976555\|RCV001529371;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283379	220283379	2:g.220283379C>T	-
NM_001927.4(DES):c.196C>A (p.Leu66Met)	1674	DES	Uncertain significance	1320380570	RCV000651540\|RCV002422410;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283380	220283380	2:g.220283380C>A	ClinGen:CA350683798	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.199G>A (p.Gly67Arg)	1674	DES	Uncertain significance	753419517	RCV002003604;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283383	220283383	220283383	-
NM_001927.4(DES):c.205C>T (p.Leu69=)	1674	DES	Likely benign	2125166013	RCV002192561;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283389	220283389	220283389	-
NM_001927.4(DES):c.206T>C (p.Leu69Pro)	1674	DES	Uncertain significance	-1	RCV002422116\|RCV003146561\|RCV003101039;	N	MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283390	220283390	220283390	-
NM_001927.4(DES):c.208C>T (p.Arg70Trp)	1674	DES	Uncertain significance	2125166022	RCV001359980;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283392	220283392	220283392	-
NM_001927.4(DES):c.209G>C (p.Arg70Pro)	1674	DES	Uncertain significance	933438188	RCV000466056;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283393	220283393	NC_000002.11:g.220283393G>C	ClinGen:CA16610610	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.210G>C (p.Arg70=)	1674	DES	Conflicting interpretations of pathogenicity	761255472	RCV000302897\|RCV000725053\|RCV002059102;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283394	220283394	2:g.220283394G>C	ClinGen:CA10604110	CN169374 not specified;
NM_001927.4(DES):c.210G>A (p.Arg70=)	1674	DES	Likely benign	761255472	RCV001490896;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283394	220283394	NC_000002.11:g.220283394G>A	ClinGen:CA16610717	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.211G>T (p.Ala71Ser)	1674	DES	Uncertain significance	-1	RCV003055820;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283395	220283395	NC_000002.11:g.220283395G>T	-
NM_001927.4(DES):c.212C>T (p.Ala71Val)	1674	DES	Uncertain significance	759235186	RCV000208029\|RCV001297826;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283396	220283396	2:g.220283396C>T	ClinGen:CA068076	C0878544 Cardiomyopathy;
NM_001927.4(DES):c.213C>T (p.Ala71=)	1674	DES	Likely benign	-1	RCV002606748;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283397	220283397		-
NM_001927.4(DES):c.216C>A (p.Ser72Arg)	1674	DES	Conflicting interpretations of pathogenicity	375719734	RCV000463940\|RCV000710118\|RCV001330866\|RCV001706118\|RCV001798625\|RCV002265658\|RCV002426827;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphane	2	220283400	220283400	2:g.220283400C>A	ClinGen:CA238726	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.217C>A (p.Arg73=)	1674	DES	Likely benign	1954367704	RCV001453191;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283401	220283401	220283401	-
NM_001927.4(DES):c.218G>T (p.Arg73Leu)	1674	DES	Uncertain significance	752518966	RCV000231650;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283402	220283402	2:g.220283402G>T	ClinGen:CA10581946	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.218G>A (p.Arg73Gln)	1674	DES	Conflicting interpretations of pathogenicity	752518966	RCV000592338\|RCV000707403\|RCV002431751;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283402	220283402	2:g.220283402G>A	ClinGen:CA2125038	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.221T>A (p.Leu74Gln)	1674	DES	Uncertain significance	1164195329	RCV001339002;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283405	220283405	220283405	-
NM_001927.4(DES):c.224G>A (p.Gly75Glu)	1674	DES	Uncertain significance	-1	RCV002603151;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283408	220283408	NC_000002.11:g.220283408G>A	-
NM_001927.4(DES):c.225G>A (p.Gly75=)	1674	DES	Likely benign	777582958	RCV001434418\|RCV001700748\|RCV001724320;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN169374\|MedGen:C3661900	2	220283409	220283409	220283409	-
NM_001927.4(DES):c.226del (p.Thr76fs)	1674	DES	Pathogenic	1399282762	RCV000797371\|RCV002477819;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858	2	220283410	220283410	2:g.220283410_220283410del	-
NM_001927.4(DES):c.228C>G (p.Thr76=)	1674	DES	Likely benign	780233346	RCV002138545;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283412	220283412	220283412	-
NM_001927.4(DES):c.228C>T (p.Thr76=)	1674	DES	Likely benign	-1	RCV002579817;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283412	220283412		-
NM_001927.4(DES):c.229A>G (p.Thr77Ala)	1674	DES	Conflicting interpretations of pathogenicity	769034192	RCV000591625\|RCV001046462\|RCV002491191\|RCV002456300;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:000840	2	220283413	220283413	2:g.220283413A>G	ClinGen:CA2125045	CN169374 not specified;
NM_001927.4(DES):c.230C>T (p.Thr77Ile)	1674	DES	Uncertain significance	1392710887	RCV001979814;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283414	220283414	220283414	-
NM_001927.4(DES):c.233G>T (p.Arg78Leu)	1674	DES	Uncertain significance	573916832	RCV000824328\|RCV002478625;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C186700	2	220283417	220283417	2:g.220283417G>T	-
NM_001927.4(DES):c.235A>C (p.Thr79Pro)	1674	DES	Uncertain significance	-1	RCV002602375;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283419	220283419	NC_000002.11:g.220283419A>C	-
NM_001927.4(DES):c.236C>T (p.Thr79Met)	1674	DES	Uncertain significance	-1	RCV003069898;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283420	220283420	NC_000002.11:g.220283420C>T	-
NM_001927.4(DES):c.237G>A (p.Thr79=)	1674	DES	Conflicting interpretations of pathogenicity	727503899	RCV000153149\|RCV002056029;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283421	220283421	2:g.220283421G>A	ClinGen:CA233899	CN169374 not specified;
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)	1674	DES	Uncertain significance	-1	RCV002645779;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283423	220283425	NC_000002.11:g.220283423CCT[2]	-
NM_001927.4(DES):c.243C>T (p.Ser81=)	1674	DES	Benign/Likely benign	201594392	RCV000156075\|RCV000471679\|RCV000620327\|RCV001697118;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900	2	220283427	220283427	2:g.220283427C>T	ClinGen:CA184122	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.244T>C (p.Ser82Pro)	1674	DES	Uncertain significance	-1	RCV002766846;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283428	220283428	NC_000002.11:g.220283428T>C	-
NM_001927.4(DES):c.245C>T (p.Ser82Phe)	1674	DES	Uncertain significance	1358038961	RCV001995255\|RCV002492181;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858	2	220283429	220283429	220283429	-
NM_001927.4(DES):c.247T>C (p.Tyr83His)	1674	DES	Uncertain significance	1954368990	RCV001137425\|RCV001137426\|RCV002265945;	N	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:363543, Orphanet:98909	2	220283431	220283431	2:g.220283431T>C	-
NM_001927.4(DES):c.249C>T (p.Tyr83=)	1674	DES	Likely benign	2125166116	RCV002205930;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283433	220283433	220283433	-
NM_001927.4(DES):c.250G>A (p.Gly84Ser)	1674	DES	Conflicting interpretations of pathogenicity	200545412	RCV000150379\|RCV000474215\|RCV000724983\|RCV002426711;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MedGen:CN230736	2	220283434	220283434	2:g.220283434G>A	ClinGen:CA175620	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.253G>A (p.Ala85Thr)	1674	DES	Uncertain significance	-1	RCV003091922;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283437	220283437	NC_000002.11:g.220283437G>A	-
NM_001927.4(DES):c.254_255insT (p.Gly86fs)	1674	DES	Pathogenic/Likely pathogenic	1273708097	RCV001038112\|RCV002223970;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283438	220283439	2:g.220283438_220283439insT	-
NM_001927.4(DES):c.258C>G (p.Gly86=)	1674	DES	Likely benign	994454109	RCV000426689\|RCV001442251\|RCV003168679;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283442	220283442	2:g.220283442C>G	ClinGen:CA16604126	CN169374 not specified;
NM_001927.4(DES):c.258C>T (p.Gly86=)	1674	DES	Likely benign	994454109	RCV001366089\|RCV002432032;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283442	220283442	220283442	-
NM_001927.4(DES):c.258C>A (p.Gly86=)	1674	DES	Likely benign	994454109	RCV002110421;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283442	220283442	220283442	-
NM_001927.4(DES):c.261G>A (p.Glu87=)	1674	DES	Likely benign	770325337	RCV002082643;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283445	220283445	220283445	-
NM_001927.4(DES):c.261G>T (p.Glu87Asp)	1674	DES	Uncertain significance	-1	RCV002695359;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283445	220283445	NC_000002.11:g.220283445G>T	-
NM_001927.4(DES):c.268G>C (p.Asp90His)	1674	DES	Uncertain significance	1267102255	RCV000559463\|RCV002431698;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283452	220283452	NC_000002.11:g.220283452G>C	ClinGen:CA350684687	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.269A>T (p.Asp90Val)	1674	DES	Uncertain significance	1954369708	RCV001342159;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283453	220283453	220283453	-
NM_001927.4(DES):c.269A>C (p.Asp90Ala)	1674	DES	Uncertain significance	1954369708	RCV002028717;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283453	220283453	220283453	-
NM_001927.4(DES):c.273C>T (p.Phe91=)	1674	DES	Likely benign	1025329460	RCV002154196;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283457	220283457	220283457	-
NM_001927.4(DES):c.275C>T (p.Ser92Leu)	1674	DES	Uncertain significance	1954369865	RCV001065410;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283459	220283459	2:g.220283459C>T	-
NM_001927.4(DES):c.278T>C (p.Leu93Pro)	1674	DES	Uncertain significance	-1	RCV003056066;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283462	220283462	NC_000002.11:g.220283462T>C	-
NM_001927.4(DES):c.280G>A (p.Ala94Thr)	1674	DES	Uncertain significance	1163703259	RCV001321498;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283464	220283464	220283464	-
NM_001927.4(DES):c.282C>G (p.Ala94=)	1674	DES	Likely benign	397516693	RCV000037237\|RCV002054649\|RCV002433500;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283466	220283466	2:g.220283466C>G	ClinGen:CA133841	CN169374 not specified;
NM_001927.4(DES):c.284A>T (p.Asp95Val)	1674	DES	Uncertain significance	1954370194	RCV001312754;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283468	220283468	220283468	-
NM_001927.4(DES):c.285C>T (p.Asp95=)	1674	DES	Likely benign	562875165	RCV001484452;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283469	220283469	220283469	-
NM_001927.4(DES):c.286G>T (p.Ala96Ser)	1674	DES	Uncertain significance	201190593	RCV000253402\|RCV000991884\|RCV001211572\|RCV003319190;	N	MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype On	2	220283470	220283470	2:g.220283470G>T	ClinGen:CA10587549	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.291G>A (p.Val97=)	1674	DES	Likely benign	775205419	RCV001400541\|RCV003169994;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283475	220283475	220283475	-
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)	1674	DES	Uncertain significance	-1	RCV002740163;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283476	220283476	NC_000002.11:g.220283476A>T	-
NM_001927.4(DES):c.294C>T (p.Asn98=)	1674	DES	Likely benign	-1	RCV002730473;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283478	220283478		-
NM_001927.4(DES):c.295C>G (p.Gln99Glu)	1674	DES	Uncertain significance	794728992	RCV000183367\|RCV000691921;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283479	220283479	NC_000002.11:g.220283479C>G	ClinGen:CA308304	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.298G>A (p.Glu100Lys)	1674	DES	Uncertain significance	1434605523	RCV001037011;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283482	220283482	2:g.220283482G>A	-
NM_001927.4(DES):c.299A>C (p.Glu100Ala)	1674	DES	Uncertain significance	762738069	RCV000183368\|RCV001852351\|RCV002433813;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283483	220283483	2:g.220283483A>C	ClinGen:CA308307	CN169374 not specified;
NM_001927.4(DES):c.300dup (p.Phe101fs)	1674	DES	Pathogenic	-1	RCV003036660;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283483	220283484	NC_000002.11:g.220283484dup	-
NM_001927.4(DES):c.300G>A (p.Glu100=)	1674	DES	Conflicting interpretations of pathogenicity	1339030541	RCV002101449\|RCV003319507;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283484	220283484	220283484	-
NM_001927.4(DES):c.306G>A (p.Leu102=)	1674	DES	Likely benign	2125166197	RCV001413690;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283490	220283490	220283490	-
NM_001927.4(DES):c.309del (p.Thr104fs)	1674	DES	Pathogenic	2125166200	RCV001386331;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283492	220283492	220283491	-
NM_001927.4(DES):c.310A>G (p.Thr104Ala)	1674	DES	Uncertain significance	1559352310	RCV000693246;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283494	220283494	NC_000002.11:g.220283494A>G	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.311C>T (p.Thr104Met)	1674	DES	Uncertain significance	980849177	RCV001062011;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283495	220283495	2:g.220283495C>T	-
NM_001927.4(DES):c.311C>G (p.Thr104Arg)	1674	DES	Uncertain significance	980849177	RCV001903562;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283495	220283495	220283495	-
NM_001927.4(DES):c.313C>T (p.Arg105Cys)	1674	DES	Uncertain significance	794728993	RCV001211522\|RCV002321729;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283497	220283497	2:g.220283497C>T	-
NM_001927.4(DES):c.314G>T (p.Arg105Leu)	1674	DES	Uncertain significance	1406795636	RCV001349290;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283498	220283498	220283498	-
NM_001927.4(DES):c.319A>G (p.Asn107Asp)	1674	DES	Uncertain significance	2125166213	RCV001966682;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283503	220283503	220283503	-
NM_001927.4(DES):c.320A>C (p.Asn107Thr)	1674	DES	Uncertain significance	1156440628	RCV001222980;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283504	220283504	2:g.220283504A>C	-
NM_001927.4(DES):c.321C>A (p.Asn107Lys)	1674	DES	Uncertain significance	-1	RCV002842505;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283505	220283505	NC_000002.11:g.220283505C>A	-
NM_001927.4(DES):c.322G>A (p.Glu108Lys)	1674	DES	Uncertain significance	62636490	RCV000056796\|RCV001232668\|RCV002504955;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011	2	220283506	220283506	2:g.220283506G>A	ClinGen:CA217060	CN517202 not provided;
NM_001927.4(DES):c.322G>T (p.Glu108Ter)	1674	DES	Pathogenic	62636490	RCV000991885\|RCV001047253\|RCV002489466;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:000840	2	220283506	220283506	2:g.220283506G>T	-
NM_001927.4(DES):c.323A>G (p.Glu108Gly)	1674	DES	Uncertain significance	1954371679	RCV001307562;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283507	220283507	220283507	-
NM_001927.4(DES):c.324G>A (p.Glu108=)	1674	DES	Benign/Likely benign	138677215	RCV000154551\|RCV000226557\|RCV000250330\|RCV001529031;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900	2	220283508	220283508	2:g.220283508G>A	ClinGen:CA180958	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.325A>G (p.Lys109Glu)	1674	DES	Uncertain significance	1954371825	RCV001317605;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283509	220283509	220283509	-
NM_001927.4(DES):c.326A>G (p.Lys109Arg)	1674	DES	Uncertain significance	1488426454	RCV001216735\|RCV002223286\|RCV002447090;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736	2	220283510	220283510	2:g.220283510A>G	-
NM_001927.4(DES):c.328G>C (p.Val110Leu)	1674	DES	Uncertain significance	373081285	RCV000484348\|RCV001240419\|RCV002323831;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283512	220283512	2:g.220283512G>C	ClinGen:CA2125052	CN169374 not specified;
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del)	1674	DES	Pathogenic	1553603239	RCV002265839;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283514	220283522	2:g.220283514_220283522del	-	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.335T>G (p.Leu112Arg)	1674	DES	Uncertain significance	1954372144	RCV001071084;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283519	220283519	2:g.220283519T>G	-
NM_001927.4(DES):c.339G>A (p.Gln113=)	1674	DES	Likely benign	-1	RCV002451997\|RCV003099453;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283523	220283523		-
NM_001927.4(DES):c.341A>G (p.Glu114Gly)	1674	DES	Uncertain significance	2125166251	RCV002049499;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283525	220283525	220283525	-
NM_001927.4(DES):c.343C>A (p.Leu115Ile)	1674	DES	Pathogenic	-1	RCV003084860;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283527	220283527	NC_000002.11:g.220283527C>A	-
NM_001927.4(DES):c.343C>T (p.Leu115Phe)	1674	DES	Uncertain significance	-1	RCV002594428;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283527	220283527	NC_000002.11:g.220283527C>T	-
NM_001927.4(DES):c.344T>C (p.Leu115Pro)	1674	DES	Uncertain significance	2125166259	RCV002009169;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283528	220283528	220283528	-
NM_001927.4(DES):c.345C>G (p.Leu115=)	1674	DES	Likely benign	-1	RCV003080887;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283529	220283529		-
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)	1674	DES	Pathogenic	-1	RCV003080888;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283530	220283534	NC_000002.11:g.220283530_220283534delinsTAGT	-
NM_001927.4(DES):c.347A>G (p.Asn116Ser)	1674	DES	Pathogenic/Likely pathogenic	267607499	RCV000056799\|RCV001384253;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283531	220283531	2:g.220283531A>G	ClinGen:CA217067,UniProtKB:P17661#VAR_069191	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.347A>T (p.Asn116Ile)	1674	DES	Conflicting interpretations of pathogenicity	267607499	RCV000217696\|RCV000651544;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283531	220283531	NC_000002.11:g.220283531A>T	ClinGen:CA10576588	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.348T>C (p.Asn116=)	1674	DES	Likely benign	766333303	RCV001485665;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283532	220283532	220283532	-
NM_001927.4(DES):c.349G>C (p.Asp117His)	1674	DES	Uncertain significance	1954372615	RCV001321596\|RCV002341659;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283533	220283533	220283533	-
NM_001927.4(DES):c.352C>A (p.Arg118Ser)	1674	DES	Uncertain significance	1188232371	RCV000535526;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283536	220283536	NC_000002.11:g.220283536C>A	ClinGen:CA350685460	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.357C>T (p.Phe119=)	1674	DES	Likely benign	1156903614	RCV001415636\|RCV002456669;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283541	220283541	220283541	-
NM_001927.4(DES):c.358G>C (p.Ala120Pro)	1674	DES	Conflicting interpretations of pathogenicity	794728996	RCV000183377\|RCV001852352;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283542	220283542	2:g.220283542G>C	ClinGen:CA308328	CN517202 not provided;
NM_001927.4(DES):c.359C>A (p.Ala120Asp)	1674	DES	Uncertain significance	1954373010	RCV001059305;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283543	220283543	2:g.220283543C>A	-
NM_001927.4(DES):c.360C>T (p.Ala120=)	1674	DES	Likely benign	1553603246	RCV000651557;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283544	220283544	NC_000002.11:g.220283544C>T	ClinGen:CA431427557	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.361A>C (p.Asn121His)	1674	DES	Uncertain significance	1954373113	RCV001363530\|RCV002456558;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283545	220283545	220283545	-
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)	1674	DES	Conflicting interpretations of pathogenicity	1400593451	RCV000757150\|RCV000852535\|RCV001171066\|RCV001855888;	N	MedGen:CN517202\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283549	220283549	NC_000002.11:g.220283549A>G	-
NM_001927.4(DES):c.367A>G (p.Ile123Val)	1674	DES	Uncertain significance	376048590	RCV001228319;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283551	220283551	2:g.220283551A>G	-
NM_001927.4(DES):c.369del (p.Ile123fs)	1674	DES	Conflicting interpretations of pathogenicity	747289875	RCV000221238\|RCV001853441;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283553	220283553	NC_000002.11:g.220283553del	ClinGen:CA2125058	CN169374 not specified;
NM_001927.4(DES):c.371A>C (p.Glu124Ala)	1674	DES	Uncertain significance	564121737	RCV000822267;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283555	220283555	2:g.220283555A>C	-
NM_001927.4(DES):c.371A>G (p.Glu124Gly)	1674	DES	Uncertain significance	564121737	RCV001220938;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283555	220283555	2:g.220283555A>G	-
NM_001927.4(DES):c.372G>A (p.Glu124=)	1674	DES	Benign/Likely benign	34365369	RCV000037238\|RCV000252338\|RCV000271597\|RCV000329285\|RCV000376849\|RCV000472667\|RCV000711439;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO: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:363543, Orphanet:98909\|Me	2	220283556	220283556	2:g.220283556G>A	ClinGen:CA133844	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.373A>T (p.Lys125Ter)	1674	DES	Pathogenic	886043000	RCV000261318\|RCV000700283;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283557	220283557	2:g.220283557A>T	ClinGen:CA10604977	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.376G>T (p.Val126Leu)	1674	DES	Uncertain significance	876657770	RCV000214253\|RCV000820863;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283560	220283560	NC_000002.11:g.220283560G>T	ClinGen:CA10576589	CN169374 not specified;
NM_001927.4(DES):c.379C>G (p.Arg127Gly)	1674	DES	Uncertain significance	868157645	RCV001363964;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283563	220283563	220283563	-
NM_001927.4(DES):c.379C>T (p.Arg127Cys)	1674	DES	Uncertain significance	-1	RCV002842252;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283563	220283563	NC_000002.11:g.220283563C>T	-
NM_001927.4(DES):c.380G>C (p.Arg127Pro)	1674	DES	Conflicting interpretations of pathogenicity	397516694	RCV000037239\|RCV000183371\|RCV000547988\|RCV000852536;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247	2	220283564	220283564	2:g.220283564G>C	ClinGen:CA133847	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.386T>G (p.Leu129Arg)	1674	DES	Uncertain significance	1954374163	RCV001888348;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283570	220283570	220283570	-
NM_001927.4(DES):c.391C>A (p.Gln131Lys)	1674	DES	Uncertain significance	771499260	RCV000470564\|RCV000484887\|RCV002489075\|RCV003168845;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:000840	2	220283575	220283575	NC_000002.11:g.220283575C>A	ClinGen:CA2125062	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.394C>T (p.Gln132Ter)	1674	DES	Pathogenic	1060503165	RCV001380227;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283578	220283578	NC_000002.11:g.220283578C>T	ClinGen:CA16610670	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.399C>T (p.Asn133=)	1674	DES	Likely benign	-1	RCV003087319;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283583	220283583		-
NM_001927.4(DES):c.401C>A (p.Ala134Glu)	1674	DES	Uncertain significance	-1	RCV002301696;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283585	220283585	220283585	-
NM_001927.4(DES):c.402G>A (p.Ala134=)	1674	DES	Likely benign	369297392	RCV002151958;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283586	220283586	220283586	-
NM_001927.4(DES):c.404C>T (p.Ala135Val)	1674	DES	Conflicting interpretations of pathogenicity	546741834	RCV000217198\|RCV000725598\|RCV001079455\|RCV002321829;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283588	220283588	NC_000002.11:g.220283588C>T	ClinGen:CA2125063	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.404C>G (p.Ala135Gly)	1674	DES	Uncertain significance	546741834	RCV001299339\|RCV002504447;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|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,Or	2	220283588	220283588	220283588	-
NM_001927.4(DES):c.405G>A (p.Ala135=)	1674	DES	Likely benign	1344076921	RCV002119566;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283589	220283589	220283589	-
NM_001927.4(DES):c.406C>G (p.Leu136Val)	1674	DES	Uncertain significance	1175707667	RCV001360035\|RCV003169786;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283590	220283590	220283590	-
NM_001927.4(DES):c.407T>A (p.Leu136His)	1674	DES	Uncertain significance	397516695	RCV000037241\|RCV000528546\|RCV000618538\|RCV000735343\|RCV000726980\|RCV001798112\|RCV002504889;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|14 conditions\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011482,MedG	2	220283591	220283591	2:g.220283591T>A	ClinGen:CA133850	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.408C>T (p.Leu136=)	1674	DES	Benign/Likely benign	111828114	RCV000037242\|RCV000249408\|RCV000284644\|RCV000323335\|RCV000380447\|RCV000460179\|RCV001668158;	N	MedGen: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:363543, Orphanet:98909\|Me	2	220283592	220283592	2:g.220283592C>T	ClinGen:CA133853	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.408C>A (p.Leu136=)	1674	DES	Likely benign	111828114	RCV002089827;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283592	220283592	220283592	-
NM_001927.4(DES):c.410C>A (p.Ala137Asp)	1674	DES	Uncertain significance	775115627	RCV000229186;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283594	220283594	2:g.220283594C>A	ClinGen:CA10581947	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.411C>T (p.Ala137=)	1674	DES	Likely benign	549278754	RCV002208089\|RCV002325703;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283595	220283595	220283595	-
NM_001927.4(DES):c.411C>G (p.Ala137=)	1674	DES	Likely benign	549278754	RCV002177425;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283595	220283595	220283595	-
NM_001927.4(DES):c.414C>G (p.Ala138=)	1674	DES	Likely benign	1445220768	RCV002105237\|RCV002331741;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283598	220283598	220283598	-
NM_001927.4(DES):c.415G>A (p.Glu139Lys)	1674	DES	Uncertain significance	763769862	RCV000463745;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283599	220283599	NC_000002.11:g.220283599G>A	ClinGen:CA16610612	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.418G>C (p.Val140Leu)	1674	DES	Uncertain significance	1377068684	RCV002047609;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283602	220283602	220283602	-
NM_001927.4(DES):c.418G>A (p.Val140Met)	1674	DES	Uncertain significance	1377068684	RCV001880274;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283602	220283602	220283602	-
NM_001927.4(DES):c.423C>T (p.Asn141=)	1674	DES	Benign/Likely benign	1954375978	RCV001635743\|RCV002072949;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283607	220283607	220283607	-
NM_001927.4(DES):c.427C>G (p.Leu143Val)	1674	DES	Uncertain significance	1954376231	RCV001217571;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283611	220283611	2:g.220283611C>G	-
NM_001927.4(DES):c.428T>C (p.Leu143Pro)	1674	DES	Uncertain significance	1419950518	RCV002265958;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283612	220283612	2:g.220283612T>C	-
NM_001927.4(DES):c.428T>G (p.Leu143Arg)	1674	DES	Uncertain significance	-1	RCV002776453;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283612	220283612	NC_000002.11:g.220283612T>G	-
NM_001927.4(DES):c.434G>A (p.Gly145Asp)	1674	DES	Uncertain significance	1553603267	RCV000651539;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283618	220283618	2:g.220283618G>A	ClinGen:CA350686173	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.438C>T (p.Arg146=)	1674	DES	Likely benign	-1	RCV002765678;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283622	220283622		-
NM_001927.4(DES):c.444G>A (p.Pro148=)	1674	DES	Likely benign	767505861	RCV001486167;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283628	220283628	220283628	-
NM_001927.4(DES):c.447G>C (p.Thr149=)	1674	DES	Likely benign	1575013396	RCV001464039;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283631	220283631	2:g.220283631G>C	-
NM_001927.4(DES):c.452_459del (p.Val151fs)	1674	DES	Pathogenic	2125166454	RCV001388854;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283632	220283639	220283631	-
NM_001927.4(DES):c.449G>A (p.Arg150Gln)	1674	DES	Uncertain significance	876661344	RCV000223735\|RCV001368093\|RCV002223198;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283633	220283633	2:g.220283633G>A	ClinGen:CA10581142	CN169374 not specified;
NM_001927.4(DES):c.456C>T (p.Ala152=)	1674	DES	Likely benign	-1	RCV002342110\|RCV003094765;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283640	220283640		-
NM_001927.4(DES):c.456C>G (p.Ala152=)	1674	DES	Likely benign	-1	RCV002791644;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283640	220283640		-
NM_001927.4(DES):c.458A>G (p.Glu153Gly)	1674	DES	Uncertain significance	-1	RCV002302914;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283642	220283642	220283642	-
NM_001927.4(DES):c.461T>A (p.Leu154His)	1674	DES	Uncertain significance	755106109	RCV000685600;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283645	220283645	NC_000002.11:g.220283645T>A	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.465C>T (p.Tyr155=)	1674	DES	Conflicting interpretations of pathogenicity	1458306248	RCV000997672\|RCV002550712;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283649	220283649	2:g.220283649C>T	-
NM_001927.4(DES):c.466G>A (p.Glu156Lys)	1674	DES	Uncertain significance	765471098	RCV000504292\|RCV001851408\|RCV002496945\|RCV003222008;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C183237	2	220283650	220283650	NC_000002.11:g.220283650G>A	ClinGen:CA2125072	CN169374 not specified;
NM_001927.4(DES):c.466G>C (p.Glu156Gln)	1674	DES	Uncertain significance	765471098	RCV001905553;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283650	220283650	220283650	-
NM_001927.4(DES):c.467A>T (p.Glu156Val)	1674	DES	Uncertain significance	2125166482	RCV001365146;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283651	220283651	220283651	-
NM_001927.4(DES):c.469G>A (p.Glu157Lys)	1674	DES	Uncertain significance	1265299630	RCV001324483;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283653	220283653	220283653	-
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)	1674	DES	Uncertain significance	-1	RCV002282853\|RCV003101615;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283654	220283655	220283654	-
NM_001927.4(DES):c.477G>A (p.Leu159=)	1674	DES	Likely benign	1423370718	RCV002531979;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283661	220283661	2:g.220283661G>A	ClinGen:CA431427865	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)	1674	DES	Uncertain significance	-1	RCV002801793;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283665	220283666	NC_000002.11:g.220283666_220283674dup	-
NM_001927.4(DES):c.482A>G (p.Glu161Gly)	1674	DES	Uncertain significance	-1	RCV002791697\|RCV003274041;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283666	220283666	NC_000002.11:g.220283666A>G	-
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup)	1674	DES	Uncertain significance	1954378812	RCV001040305;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283668	220283669	2:g.220283668_220283669insTGCGGCGCCAGGTGGAGG	-
NM_001927.4(DES):c.488G>A (p.Arg163Gln)	1674	DES	Uncertain significance	1457012198	RCV000697561;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283672	220283672	NC_000002.11:g.220283672G>A	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.488G>C (p.Arg163Pro)	1674	DES	Uncertain significance	1457012198	RCV001903854\|RCV002334854;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283672	220283672	220283672	-
NM_001927.4(DES):c.489G>A (p.Arg163=)	1674	DES	Likely benign	1448975712	RCV001499153;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283673	220283673	2:g.220283673G>A	-
NM_001927.4(DES):c.494A>G (p.Gln165Arg)	1674	DES	Uncertain significance	1369044757	RCV001767693\|RCV002488572;	N	MedGen:C3661900\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146	2	220283678	220283678	220283678	-
NM_001927.4(DES):c.500A>G (p.Glu167Gly)	1674	DES	Uncertain significance	1575013470	RCV002265924;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283684	220283684	2:g.220283684A>G	-
NM_001927.4(DES):c.500A>T (p.Glu167Val)	1674	DES	Uncertain significance	-1	RCV002780302;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283684	220283684	NC_000002.11:g.220283684A>T	-
NM_001927.4(DES):c.501G>T (p.Glu167Asp)	1674	DES	Uncertain significance	1277110592	RCV002010521;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283685	220283685	220283685	-
NM_001927.4(DES):c.514C>T (p.Gln172Ter)	1674	DES	Pathogenic	1559352440	RCV000697545;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283698	220283698	2:g.220283698C>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)	1674	DES	Pathogenic	60538473	RCV000056803\|RCV002265560;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283699	220283719	2:g.220283699_220283719del	ClinGen:CA217075,OMIM:125660.0004	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.515A>C (p.Gln172Pro)	1674	DES	Uncertain significance	2125166557	RCV001931906;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283699	220283699	220283699	-
NM_001927.4(DES):c.525_526dup (p.Val176fs)	1674	DES	Pathogenic	-1	RCV003015700;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283699	220283700	NC_000002.11:g.220283701CG[6]	-
NM_001927.4(DES):c.516G>A (p.Gln172=)	1674	DES	Conflicting interpretations of pathogenicity	1014762661	RCV000770166\|RCV002067214\|RCV002334432;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283700	220283700	NC_000002.11:g.220283700G>A	-
NM_001927.4(DES):c.525_526del (p.Val176fs)	1674	DES	Pathogenic	769096434	RCV001381376;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283700	220283701	220283699	-
NM_001927.4(DES):c.517C>A (p.Arg173Ser)	1674	DES	Uncertain significance	752944882	RCV001309772\|RCV002341621\|RCV002486212;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C183237	2	220283701	220283701	220283701	-
NM_001927.4(DES):c.517C>G (p.Arg173Gly)	1674	DES	Uncertain significance	-1	RCV002837951;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283701	220283701	NC_000002.11:g.220283701C>G	-
NM_001927.4(DES):c.518G>A (p.Arg173His)	1674	DES	Uncertain significance	-1	RCV002734915;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283702	220283702	NC_000002.11:g.220283702G>A	-
NM_001927.4(DES):c.519C>A (p.Arg173=)	1674	DES	Likely benign	758686466	RCV001479834;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283703	220283703	220283703	-
NM_001927.4(DES):c.524G>A (p.Arg175His)	1674	DES	Uncertain significance	878854472	RCV000231969\|RCV002261017;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283708	220283708	2:g.220283708G>A	ClinGen:CA10581948	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.525C>A (p.Arg175=)	1674	DES	Likely benign	1477068739	RCV001498634;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283709	220283709	220283709	-
NM_001927.4(DES):c.528C>T (p.Val176=)	1674	DES	Likely benign	1057522906	RCV002200244;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283712	220283712	220283712	-
NM_001927.4(DES):c.529G>A (p.Asp177Asn)	1674	DES	Uncertain significance	1057524813	RCV000435976\|RCV001861644;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283713	220283713	2:g.220283713G>A	ClinGen:CA16604072	CN169374 not specified;
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)	1674	DES	Uncertain significance	-1	RCV002893994\|RCV003146648;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283717	220283734	NC_000002.11:g.220283721_220283738del	-
NM_001927.4(DES):c.534C>T (p.Val178=)	1674	DES	Likely benign	1163205960	RCV002121459;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283718	220283718	220283718	-
NM_001927.4(DES):c.536A>T (p.Glu179Val)	1674	DES	Uncertain significance	-1	RCV002885701;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283720	220283720	NC_000002.11:g.220283720A>T	-
NM_001927.4(DES):c.540C>T (p.Arg180=)	1674	DES	Likely benign	757644636	RCV000606815\|RCV000926407\|RCV002350496;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283724	220283724	2:g.220283724C>T	ClinGen:CA2125078	CN169374 not specified;
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del)	1674	DES	Uncertain significance	1954382461	RCV001060758;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283724	220283735	2:g.220283724_220283735del	-
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)	1674	DES	Uncertain significance	-1	RCV002835374;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283724	220283738	NC_000002.11:g.220283728_220283742del	-
NM_001927.4(DES):c.541G>C (p.Asp181His)	1674	DES	Uncertain significance	1297244198	RCV000535306\|RCV000770167\|RCV002223226\|RCV003159921;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN517202\|MedGen:CN230736	2	220283725	220283725	NC_000002.11:g.220283725G>C	ClinGen:CA350686999	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.541G>A (p.Asp181Asn)	1674	DES	Uncertain significance	1297244198	RCV000577988\|RCV002265808;	N	MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283725	220283725	2:g.220283725G>A	ClinGen:CA350686998	C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.543C>T (p.Asp181=)	1674	DES	Likely benign	1954382613	RCV001414832;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283727	220283727	220283727	-
NM_001927.4(DES):c.543C>G (p.Asp181Glu)	1674	DES	Uncertain significance	-1	RCV003058178\|RCV003443109;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283727	220283727	NC_000002.11:g.220283727C>G	-
NM_001927.4(DES):c.552C>T (p.Leu184=)	1674	DES	Likely benign	1050510822	RCV000616229\|RCV000866225\|RCV002350467;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220283736	220283736	2:g.220283736C>T	ClinGen:CA65981348	CN169374 not specified;
NM_001927.4(DES):c.554A>T (p.Asp185Val)	1674	DES	Uncertain significance	-1	RCV003021767;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283738	220283738	NC_000002.11:g.220283738A>T	-
NM_001927.4(DES):c.556G>T (p.Asp186Tyr)	1674	DES	Uncertain significance	878854473	RCV000225879;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283740	220283740	NC_000002.11:g.220283740G>T	ClinGen:CA10581949	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.556G>C (p.Asp186His)	1674	DES	Uncertain significance	-1	RCV003044181;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283740	220283740	NC_000002.11:g.220283740G>C	-
NM_001927.4(DES):c.558C>G (p.Asp186Glu)	1674	DES	Uncertain significance	1575013561	RCV000811768\|RCV001759569;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220283742	220283742	2:g.220283742C>G	-
NM_001927.4(DES):c.559C>T (p.Leu187=)	1674	DES	Likely benign	1314756792	RCV001406621\|RCV001823771;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN169374	2	220283743	220283743	220283743	-
NM_001927.4(DES):c.560T>G (p.Leu187Arg)	1674	DES	Uncertain significance	1248833348	RCV001211738;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283744	220283744	2:g.220283744T>G	-
NM_001927.4(DES):c.564G>T (p.Gln188His)	1674	DES	Uncertain significance	-1	RCV002998687;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283748	220283748	NC_000002.11:g.220283748G>T	-
NM_001927.4(DES):c.565C>T (p.Arg189Trp)	1674	DES	Uncertain significance	1223277151	RCV000700407\|RCV002343524\|RCV003144550;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:CN517202	2	220283749	220283749	NC_000002.11:g.220283749C>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.566G>A (p.Arg189Gln)	1674	DES	Uncertain significance	1025323214	RCV000484309\|RCV000808258;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283750	220283750	NC_000002.11:g.220283750G>A	ClinGen:CA16617478	CN169374 not specified;
NM_001927.4(DES):c.567G>A (p.Arg189=)	1674	DES	Likely benign	-1	RCV003075095;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283751	220283751		-
NM_001927.4(DES):c.570C>G (p.Leu190=)	1674	DES	Likely benign	-1	RCV003105151;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283754	220283754		-
NM_001927.4(DES):c.571A>G (p.Lys191Glu)	1674	DES	Uncertain significance	1483093429	RCV001373380\|RCV003238866;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220283755	220283755	220283755	-
NM_001927.4(DES):c.575C>T (p.Ala192Val)	1674	DES	Uncertain significance	889191100	RCV001928849;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283759	220283759	220283759	-
NM_001927.4(DES):c.578+10C>T	1674	DES	Likely benign	969392028	RCV000651554;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283772	220283772	2:g.220283772C>T	ClinGen:CA65981385	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.578+11G>A	1674	DES	Benign	111548596	RCV000037243\|RCV000282624\|RCV000349318\|RCV000336446\|RCV001675591\|RCV002054650;	N	MedGen:CN169374\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN239446\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220283773	220283773	2:g.220283773G>A	ClinGen:CA133856	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.579-38C>T	1674	DES	Benign	12991025	RCV000254468\|RCV000830418\|RCV001660223\|RCV001660224\|RCV002265712;	N	MedGen:CN169374\|MedGen:C3661900\|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:363543, Orphanet:98909	2	220284779	220284779	NC_000002.11:g.220284779C>T	ClinGen:CA2125081	CN169374 not specified;
NC_000002.11:g.(?_220284797)_(220284897_?)dup	1674	DES	Likely pathogenic	-1	RCV003107554;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284797	220284897		-
NM_001927.4(DES):c.579-15G>C	1674	DES	Likely benign	-1	RCV002795460;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284802	220284802	NC_000002.11:g.220284802G>C	-
NM_001927.4(DES):c.579-5C>A	1674	DES	Likely benign	886042889	RCV000930425;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284812	220284812	2:g.220284812C>A	-
NM_001927.4(DES):c.586GAG[1] (p.Glu197del)	1674	DES	Uncertain significance	1954405702	RCV002025170;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284822	220284824	220284821	-
NM_001927.4(DES):c.591G>A (p.Glu197=)	1674	DES	Likely benign	1440985603	RCV002145387;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284829	220284829	220284829	-
NM_001927.4(DES):c.593T>C (p.Ile198Thr)	1674	DES	Uncertain significance	773271116	RCV001921202\|RCV002359421;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220284831	220284831	220284831	-
NM_001927.4(DES):c.598T>C (p.Leu200=)	1674	DES	Likely benign	1320454372	RCV001397881;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284836	220284836	2:g.220284836T>C	-
NM_001927.4(DES):c.599T>A (p.Leu200Ter)	1674	DES	Pathogenic	2125167364	RCV001926904;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284837	220284837	220284837	-
NM_001927.4(DES):c.600G>A (p.Leu200=)	1674	DES	Likely benign	1575014014	RCV000842584\|RCV001496751;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284838	220284838	2:g.220284838G>A	-
NM_001927.4(DES):c.603G>C (p.Lys201Asn)	1674	DES	Uncertain significance	765376573	RCV000811949;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284841	220284841	2:g.220284841G>C	-
NM_001927.4(DES):c.607G>A (p.Glu203Lys)	1674	DES	Uncertain significance	2125167376	RCV001898268;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284845	220284845	220284845	-
NM_001927.4(DES):c.609A>C (p.Glu203Asp)	1674	DES	Uncertain significance	369495436	RCV000246738\|RCV001215575\|RCV001538107;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220284847	220284847	2:g.220284847A>C	ClinGen:CA2125090	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.610G>T (p.Ala204Ser)	1674	DES	Uncertain significance	1575014034	RCV000813689\|RCV003145177;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220284848	220284848	2:g.220284848G>T	-
NM_001927.4(DES):c.610G>A (p.Ala204Thr)	1674	DES	Uncertain significance	1575014034	RCV001901578;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284848	220284848	220284848	-
NM_001927.4(DES):c.615G>A (p.Glu205=)	1674	DES	Likely benign	1295010624	RCV001411363;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284853	220284853	2:g.220284853G>A	-
NM_001927.4(DES):c.615G>C (p.Glu205Asp)	1674	DES	Uncertain significance	1295010624	RCV001872580\|RCV002506903\|RCV002224098;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858	2	220284853	220284853	220284853	-
NM_001927.4(DES):c.621T>C (p.Asn207=)	1674	DES	Likely benign	763036386	RCV001972015;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284859	220284859	220284859	-
NM_001927.4(DES):c.622T>C (p.Leu208=)	1674	DES	Likely benign	764389526	RCV002085216\|RCV003161443;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220284860	220284860	220284860	-
NM_001927.4(DES):c.623T>C (p.Leu208Ser)	1674	DES	Uncertain significance	373062962	RCV000480868\|RCV001047516\|RCV002265778\|RCV002367639;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN169374\|MedGen:CN230736	2	220284861	220284861	2:g.220284861T>C	ClinGen:CA16617479	CN169374 not specified;
NM_001927.4(DES):c.623T>G (p.Leu208Trp)	1674	DES	Uncertain significance	-1	RCV003112129;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284861	220284861	NC_000002.11:g.220284861T>G	-
NM_001927.4(DES):c.629C>T (p.Ala210Val)	1674	DES	Uncertain significance	1060503169	RCV000475550;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284867	220284867	NC_000002.11:g.220284867C>T	ClinGen:CA16610613	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.634C>T (p.Arg212Ter)	1674	DES	Pathogenic/Likely pathogenic	781590560	RCV000183373\|RCV001380936\|RCV002478626\|RCV003380507;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C183237	2	220284872	220284872	2:g.220284872C>T	ClinGen:CA308316	CN517202 not provided;
NM_001927.4(DES):c.635G>A (p.Arg212Gln)	1674	DES	Conflicting interpretations of pathogenicity	144261171	RCV000154696\|RCV000157163\|RCV000229797\|RCV000307432\|RCV000393436\|RCV000406154\|RCV000725364\|RCV001264391\|RCV001798502\|RCV002362812;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0011664,MedGen:C4021133\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:1814	2	220284873	220284873	2:g.220284873G>A	ClinGen:CA181189	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.637G>A (p.Ala213Thr)	1674	DES	Uncertain significance	918962036	RCV000522498\|RCV000702212\|RCV003338638;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220284875	220284875	2:g.220284875G>A	ClinGen:CA65982205	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.639G>A (p.Ala213=)	1674	DES	Uncertain significance	377337947	RCV000547694;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284877	220284877	2:g.220284877G>A	ClinGen:CA2125095	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.639+4_639+5del	1674	DES	Pathogenic	730880289	RCV002265630;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284880	220284881	NC_000002.11:g.220284881_220284882del	ClinGen:CA273725	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.639+5G>A	1674	DES	Uncertain significance	-1	RCV002653358;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284882	220284882	NC_000002.11:g.220284882G>A	-
NM_001927.4(DES):c.639+13_639+15del	1674	DES	Likely benign	876657448	RCV000221494\|RCV001467943;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284887	220284889	NC_000002.11:g.220284887CTT[1]	ClinGen:CA2125096	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.639+17T>G	1674	DES	Likely benign	1954407967	RCV002193609;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284894	220284894	220284894	-
NM_001927.4(DES):c.639+18C>T	1674	DES	Likely benign	768129908	RCV002148254;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284895	220284895	220284895	-
NM_001927.4(DES):c.640-17C>T	1674	DES	Likely benign	762068048	RCV000418902\|RCV001727721\|RCV002525352;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284956	220284956	2:g.220284956C>T	ClinGen:CA2125111	CN169374 not specified;
NM_001927.4(DES):c.640-16G>A	1674	DES	Benign/Likely benign	181712657	RCV000183341\|RCV002054180\|RCV002492825;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:000840	2	220284957	220284957	NC_000002.11:g.220284957G>A	ClinGen:CA308251	CN169374 not specified;
NM_001927.4(DES):c.640-15C>A	1674	DES	Likely benign	-1	RCV002620897;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284958	220284958	NC_000002.11:g.220284958C>A	-
NM_001927.4(DES):c.640-14T>C	1674	DES	Likely benign	-1	RCV002617981;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284959	220284959	NC_000002.11:g.220284959T>C	-
NC_000002.12:g.(?_219420241)_(219426000_?)dup	1674	DES	Uncertain significance	-1	RCV001032056;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284963	220290722	-1	-
NM_001927.4(DES):c.640-10C>T	1674	DES	Likely benign	750812904	RCV001485824;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284963	220284963	220284963	-
NM_001927.4(DES):c.640-4C>G	1674	DES	Conflicting interpretations of pathogenicity	375680081	RCV000441822\|RCV001448868\|RCV002365495;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220284969	220284969	2:g.220284969C>G	ClinGen:CA2125113	CN169374 not specified;
NM_001927.4(DES):c.640-2A>G	1674	DES	Uncertain significance	267607492	RCV000056807\|RCV001854168;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284971	220284971	2:g.220284971A>G	ClinGen:CA217081	CN517202 not provided;
NM_001927.4(DES):c.640-1G>A	1674	DES	Pathogenic	267607484	RCV000056806\|RCV002265589;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284972	220284972	2:g.220284972G>A	ClinGen:CA217080,OMIM:125660.0009	CN517202 not provided;
NM_001927.4(DES):c.640G>T (p.Asp214Tyr)	1674	DES	Uncertain significance	1954409882	RCV002265985;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284973	220284973	220284973	-
NM_001927.4(DES):c.642C>T (p.Asp214=)	1674	DES	Conflicting interpretations of pathogenicity	370239228	RCV000037246\|RCV000726210\|RCV001085258\|RCV001142276\|RCV001142275\|RCV002362627;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MedGen:CN230736	2	220284975	220284975	2:g.220284975C>T	ClinGen:CA133863	CN169374 not specified;
NM_001927.4(DES):c.643G>A (p.Val215Met)	1674	DES	Conflicting interpretations of pathogenicity	144908941	RCV000208223\|RCV000651548\|RCV000620253\|RCV000725602\|RCV002485357\|RCV002467674\|RCV003330581\|RCV003390956;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO	2	220284976	220284976	2:g.220284976G>A	ClinGen:CA078107	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.643G>C (p.Val215Leu)	1674	DES	Uncertain significance	-1	RCV003040144;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284976	220284976	NC_000002.11:g.220284976G>C	-
NM_001927.4(DES):c.656C>T (p.Thr219Ile)	1674	DES	Conflicting interpretations of pathogenicity	144901249	RCV000217963\|RCV000726722\|RCV000770168\|RCV001084978\|RCV002363072;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220284989	220284989	2:g.220284989C>T	ClinGen:CA2125118	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.662C>T (p.Ala221Val)	1674	DES	Uncertain significance	746814065	RCV000801036\|RCV002360950\|RCV002495071\|RCV003447565;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C183237	2	220284995	220284995	2:g.220284995C>T	-
NM_001927.4(DES):c.664C>T (p.Arg222Cys)	1674	DES	Uncertain significance	374687448	RCV001699674\|RCV002361000\|RCV002538633;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220284997	220284997	220284997	-
NM_001927.4(DES):c.665G>A (p.Arg222His)	1674	DES	Conflicting interpretations of pathogenicity	367961979	RCV000154697\|RCV000260200\|RCV000324508\|RCV000379116\|RCV000540698\|RCV001657879\|RCV002362813;	N	MedGen:CN169374\|MONDO: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:363543, Orphanet:98909\|MedGen:C3661900\|Me	2	220284998	220284998	2:g.220284998G>A	ClinGen:CA181192	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His)	1674	DES	Uncertain significance	1954411290	RCV001037199;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285002	220285003	NC_000002.11:g.220285002_220285003delinsCC	-
NM_001927.4(DES):c.673C>T (p.Leu225=)	1674	DES	Likely benign	774330779	RCV000617854\|RCV002531744;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285006	220285006	NC_000002.11:g.220285006C>T	ClinGen:CA2125122	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.679C>T (p.Arg227Cys)	1674	DES	Uncertain significance	767743962	RCV000468464\|RCV001809412;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146	2	220285012	220285012	NC_000002.11:g.220285012C>T	ClinGen:CA2125125	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.680G>A (p.Arg227His)	1674	DES	Uncertain significance	141486420	RCV000727063\|RCV001055164\|RCV002362941\|RCV002485223;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MO	2	220285013	220285013	2:g.220285013G>A	ClinGen:CA308254	CN169374 not specified;
NM_001927.4(DES):c.680G>T (p.Arg227Leu)	1674	DES	Uncertain significance	141486420	RCV001368603;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285013	220285013	220285013	-
NM_001927.4(DES):c.681C>T (p.Arg227=)	1674	DES	Likely benign	-1	RCV003032502;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285014	220285014		-
NM_001927.4(DES):c.690A>G (p.Glu230=)	1674	DES	Likely benign	142145822	RCV000898792;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285023	220285023	2:g.220285023A>G	-
NM_001927.4(DES):c.694C>T (p.Leu232Phe)	1674	DES	Uncertain significance	764764823	RCV000651541\|RCV003144447;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285027	220285027	2:g.220285027C>T	ClinGen:CA2125129	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.696C>T (p.Leu232=)	1674	DES	Likely benign	2125167618	RCV001459274;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285029	220285029	220285029	-
NM_001927.4(DES):c.699C>T (p.Asn233=)	1674	DES	Benign/Likely benign	758066814	RCV000461370\|RCV001672797\|RCV002367613;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736	2	220285032	220285032	NC_000002.11:g.220285032C>T	ClinGen:CA2125131	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.700G>A (p.Glu234Lys)	1674	DES	Uncertain significance	774739275	RCV000470148\|RCV003230504;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN169374	2	220285033	220285033	NC_000002.11:g.220285033G>A	ClinGen:CA16610620	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.700G>T (p.Glu234Ter)	1674	DES	Pathogenic	774739275	RCV002266017;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285033	220285033	220285033	-
NM_001927.4(DES):c.702G>A (p.Glu234=)	1674	DES	Uncertain significance	-1	RCV003012246;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285035	220285035		-
NM_001927.4(DES):c.705G>A (p.Glu235=)	1674	DES	Likely benign	370836572	RCV002098906\|RCV002363641;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285038	220285038	220285038	-
NM_001927.4(DES):c.708C>T (p.Ile236=)	1674	DES	Conflicting interpretations of pathogenicity	886044078	RCV000339337\|RCV000617379\|RCV001431773;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285041	220285041	2:g.220285041C>T	ClinGen:CA10606321	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.709G>A (p.Ala237Thr)	1674	DES	Uncertain significance	397516697	RCV000037248\|RCV000727164\|RCV000795291\|RCV002482985;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:001107	2	220285042	220285042	NC_000002.11:g.220285042G>A	ClinGen:CA133869	CN169374 not specified;
NM_001927.4(DES):c.709G>T (p.Ala237Ser)	1674	DES	Uncertain significance	397516697	RCV001945264\|RCV002361228;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285042	220285042	220285042	-
NM_001927.4(DES):c.710C>T (p.Ala237Val)	1674	DES	Uncertain significance	374144840	RCV003077014\|RCV003274194;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285043	220285043	NC_000002.11:g.220285043C>T	-
NM_001927.4(DES):c.711G>A (p.Ala237=)	1674	DES	Likely benign	757102249	RCV001451648;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285044	220285044	2:g.220285044G>A	-
NM_001927.4(DES):c.714C>T (p.Phe238=)	1674	DES	Likely benign	780896752	RCV002103954;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285047	220285047	220285047	-
NM_001927.4(DES):c.715C>T (p.Leu239Phe)	1674	DES	Uncertain significance	-1	RCV003030816;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285048	220285048	NC_000002.11:g.220285048C>T	-
NM_001927.4(DES):c.718A>G (p.Lys240Glu)	1674	DES	Uncertain significance	1954413354	RCV001217690;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285051	220285051	2:g.220285051A>G	-
NM_001927.4(DES):c.720_722del (p.Lys241del)	1674	DES	Pathogenic	2125167652	RCV002276892;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285051	220285053	220285050	OMIM:125660.0014
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)	1674	DES	Uncertain significance	-1	RCV002863737;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285055	220285057	NC_000002.11:g.220285055_220285057del	-
NM_001927.4(DES):c.727C>T (p.His243Tyr)	1674	DES	Uncertain significance	769647148	RCV000183347\|RCV000473075\|RCV002381603\|RCV002478624;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MO	2	220285060	220285060	2:g.220285060C>T	ClinGen:CA308260	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.728A>G (p.His243Arg)	1674	DES	Uncertain significance	1410266369	RCV000523746\|RCV001139742\|RCV001139744\|RCV001853673\|RCV002384016\|RCV002481724;	N	MedGen:C3661900\|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:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:001148	2	220285061	220285061	2:g.220285061A>G	ClinGen:CA350690647	CN169374 not specified;
NM_001927.4(DES):c.729T>C (p.His243=)	1674	DES	Likely benign	949090924	RCV000619645\|RCV002531763;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285062	220285062	NC_000002.11:g.220285062T>C	ClinGen:CA65982561	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.732_735+3del	1674	DES	Likely pathogenic	-1	RCV003042312;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285064	220285070	NC_000002.11:g.220285065_220285071del	-
NM_001927.4(DES):c.735_735+3dup	1674	DES	Uncertain significance	1954413969	RCV001216447;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285066	220285067	2:g.220285066_220285067insAGGT	-
NM_001927.4(DES):c.734A>G (p.Glu245Gly)	1674	DES	Uncertain significance	1575014243	RCV000800591;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285067	220285067	2:g.220285067A>G	-
NM_001927.4(DES):c.735G>C (p.Glu245Asp)	1674	DES	Pathogenic/Likely pathogenic	267607486	RCV000056811\|RCV002226454\|RCV002265590;	N	MedGen:C3661900\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285068	220285068	2:g.220285068G>C	ClinGen:CA217085,UniProtKB:P17661#VAR_042452	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.735G>A (p.Glu245=)	1674	DES	Conflicting interpretations of pathogenicity	267607486	RCV000489159\|RCV001321146;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285068	220285068	2:g.220285068G>A	ClinGen:CA10603828	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.735+1G>A	1674	DES	Pathogenic/Likely pathogenic	397516698	RCV000393713\|RCV001220792;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285069	220285069	2:g.220285069G>A	ClinGen:CA261522	C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.735+1G>C	1674	DES	Likely pathogenic	397516698	RCV002265627;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285069	220285069	2:g.220285069G>C	ClinGen:CA273134	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.735+1G>T	1674	DES	Pathogenic	397516698	RCV000700903;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285069	220285069	NC_000002.11:g.220285069G>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.735+2T>G	1674	DES	Likely pathogenic	-1	RCV002283933;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285070	220285070	220285070	-
NM_001927.4(DES):c.735+3A>G	1674	DES	Pathogenic	267607483	RCV000056810\|RCV000154574\|RCV001233592\|RCV002381361;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:0005159,Human Phenotype Ontology:HP:020013	2	220285071	220285071	NC_000002.11:g.220285071A>G	ClinGen:CA217084,OMIM:125660.0008	C2678065 Myofibrillar myopathy;
NM_001927.4(DES):c.735+3A>T	1674	DES	Uncertain significance	267607483	RCV000459118;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285071	220285071	NC_000002.11:g.220285071A>T	ClinGen:CA16610783	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.735+6C>T	1674	DES	Uncertain significance	1302528006	RCV001214409;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285074	220285074	2:g.220285074C>T	-
NM_001927.4(DES):c.735+6C>A	1674	DES	Uncertain significance	-1	RCV003005288;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285074	220285074	NC_000002.11:g.220285074C>A	-
NM_001927.4(DES):c.735+8T>C	1674	DES	Likely benign	-1	RCV002716880;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285076	220285076	NC_000002.11:g.220285076T>C	-
NM_001927.4(DES):c.735+9T>C	1674	DES	Likely benign	-1	RCV002886278;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285077	220285077	NC_000002.11:g.220285077T>C	-
NM_001927.4(DES):c.735+10G>A	1674	DES	Likely benign	774435644	RCV001416868;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285078	220285078	220285078	-
NM_001927.4(DES):c.735+10G>T	1674	DES	Likely benign	774435644	RCV002123299;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285078	220285078	220285078	-
NM_001927.4(DES):c.735+11G>A	1674	DES	Conflicting interpretations of pathogenicity	1559352868	RCV001139745\|RCV001139746\|RCV002070661;	N	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:363543, Orphanet:98909	2	220285079	220285079	2:g.220285079G>A	-
NM_001927.4(DES):c.735+20C>T	1674	DES	Benign	151226355	RCV000037250\|RCV000239638\|RCV001650866\|RCV002054651;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419, Orphanet:593\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285088	220285088	2:g.220285088C>T	ClinGen:CA133872	C2678065 Myofibrillar myopathy;
NM_001927.4(DES):c.736-19G>A	1674	DES	Benign/Likely benign	745667526	RCV000426966\|RCV002061372;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285198	220285198	2:g.220285198G>A	ClinGen:CA2125150	CN169374 not specified;
NC_000002.12:g.(?_219420485)_(219426000_?)dup	1674	DES	Uncertain significance	-1	RCV001033912;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285207	220290722	-1	-
NM_001927.4(DES):c.736-9G>A	1674	DES	Likely benign	1553603433	RCV000524631;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285208	220285208	2:g.220285208G>A	ClinGen:CA658657243	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.736-8C>A	1674	DES	Conflicting interpretations of pathogenicity	140375681	RCV000482297\|RCV000711440\|RCV001088745\|RCV003150237;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	2	220285209	220285209	2:g.220285209C>A	ClinGen:CA2125152	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.736-2A>T	1674	DES	Uncertain significance	-1	RCV002288237;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285215	220285215	220285215	-
NM_001927.4(DES):c.738G>C (p.Glu246Asp)	1674	DES	Uncertain significance	1954417703	RCV001036926;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285219	220285219	2:g.220285219G>C	-
NM_001927.4(DES):c.742C>T (p.Arg248Cys)	1674	DES	Uncertain significance	772117708	RCV000701695\|RCV001797133;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285223	220285223	NC_000002.11:g.220285223C>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.746A>C (p.Glu249Ala)	1674	DES	Uncertain significance	1256488465	RCV001351211\|RCV003339607;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285227	220285227	220285227	-
NM_001927.4(DES):c.760C>T (p.Leu254Phe)	1674	DES	Uncertain significance	-1	RCV002580808\|RCV002592928;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MeSH:D030342,MedGen:C0950123	2	220285241	220285241	NC_000002.11:g.220285241C>T	-
NM_001927.4(DES):c.761T>G (p.Leu254Arg)	1674	DES	Uncertain significance	1559352926	RCV000689133;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285242	220285242	NC_000002.11:g.220285242T>G	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.767A>G (p.Glu256Gly)	1674	DES	Uncertain significance	1553603440	RCV000541620\|RCV003343918;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285248	220285248	NC_000002.11:g.220285248A>G	ClinGen:CA350690914	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.770A>G (p.Gln257Arg)	1674	DES	Uncertain significance	1954418582	RCV001211291;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285251	220285251	2:g.220285251A>G	-
NM_001927.4(DES):c.785A>T (p.Glu262Val)	1674	DES	Conflicting interpretations of pathogenicity	147327878	RCV000037252\|RCV000711441\|RCV001081604\|RCV002408512;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285266	220285266	2:g.220285266A>T	ClinGen:CA133873	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.790G>A (p.Asp264Asn)	1674	DES	Uncertain significance	-1	RCV002791811;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285271	220285271	NC_000002.11:g.220285271G>A	-
NM_001927.4(DES):c.792C>T (p.Asp264=)	1674	DES	Benign/Likely benign	150370918	RCV000037253\|RCV000204254\|RCV000242387\|RCV000345483\|RCV000350858\|RCV000381468\|RCV001675592\|RCV002496583;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:CN239446\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|Me	2	220285273	220285273	2:g.220285273C>T	ClinGen:CA133876	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.793A>G (p.Met265Val)	1674	DES	Uncertain significance	-1	RCV002590940;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285274	220285274	NC_000002.11:g.220285274A>G	-
NM_001927.4(DES):c.794T>C (p.Met265Thr)	1674	DES	Uncertain significance	1457398926	RCV001558113\|RCV001859383\|RCV002421194;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285275	220285275	220285275	-
NM_001927.4(DES):c.796T>C (p.Ser266Pro)	1674	DES	Uncertain significance	1342331264	RCV001319629;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285277	220285277	220285277	-
NM_001927.4(DES):c.797C>T (p.Ser266Phe)	1674	DES	Uncertain significance	1316058461	RCV001970572;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285278	220285278	220285278	-
NM_001927.4(DES):c.802C>G (p.Pro268Ala)	1674	DES	Uncertain significance	1434613160	RCV000531257\|RCV001529745;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285283	220285283	2:g.220285283C>G	ClinGen:CA350691192	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.807C>T (p.Asp269=)	1674	DES	Likely benign	-1	RCV003054777;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285288	220285288		-
NM_001927.4(DES):c.811A>T (p.Thr271Ser)	1674	DES	Uncertain significance	2125167886	RCV002002725;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285292	220285292	220285292	-
NM_001927.4(DES):c.816C>T (p.Ala272=)	1674	DES	Likely benign	759823001	RCV000418306\|RCV000770169\|RCV001428223\|RCV002418282;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285297	220285297	2:g.220285297C>T	ClinGen:CA2125157	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.817G>T (p.Ala273Ser)	1674	DES	Uncertain significance	770258461	RCV000408094\|RCV001313664;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285298	220285298	2:g.220285298G>T	ClinGen:CA10605026	CN169374 not specified;
NM_001927.4(DES):c.817G>A (p.Ala273Thr)	1674	DES	Uncertain significance	770258461	RCV001055491\|RCV002482002;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858	2	220285298	220285298	2:g.220285298G>A	-
NM_001927.4(DES):c.822C>T (p.Leu274=)	1674	DES	Conflicting interpretations of pathogenicity	763599850	RCV000292844\|RCV001078951\|RCV002429223;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285303	220285303	2:g.220285303C>T	ClinGen:CA2125160	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.823A>G (p.Arg275Gly)	1674	DES	Uncertain significance	994389035	RCV001894717\|RCV002406964;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285304	220285304	220285304	-
NM_001927.4(DES):c.823A>C (p.Arg275=)	1674	DES	Uncertain significance	-1	RCV002745328;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285304	220285304		-
NM_001927.4(DES):c.825G>A (p.Arg275=)	1674	DES	Uncertain significance	-1	RCV002653625;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285306	220285306		-
NM_001927.4(DES):c.826G>A (p.Asp276Asn)	1674	DES	Uncertain significance	1436186019	RCV001368119;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285307	220285307	220285307	-
NM_001927.4(DES):c.828C>T (p.Asp276=)	1674	DES	Benign	1058261	RCV000037254\|RCV000247557\|RCV000338231\|RCV000397462\|RCV000390698\|RCV001509597\|RCV001650867;	N	MedGen:CN169374\|MedGen:CN230736\|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:363543, Orphanet:98909\|Me	2	220285309	220285309	2:g.220285309C>T	ClinGen:CA133879	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.830T>A (p.Ile277Asn)	1674	DES	Uncertain significance	1459036752	RCV001338585;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285311	220285311	220285311	-
NM_001927.4(DES):c.832C>T (p.Arg278Trp)	1674	DES	Uncertain significance	794728985	RCV000183349\|RCV000693194\|RCV002433812;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285313	220285313	2:g.220285313C>T	ClinGen:CA308263	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.833G>C (p.Arg278Pro)	1674	DES	Uncertain significance	761475402	RCV000183374\|RCV001342240;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285314	220285314	2:g.220285314G>C	ClinGen:CA308319	CN169374 not specified;
NM_001927.4(DES):c.833G>A (p.Arg278Gln)	1674	DES	Uncertain significance	-1	RCV002593548;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285314	220285314	NC_000002.11:g.220285314G>A	-
NM_001927.4(DES):c.834G>C (p.Arg278=)	1674	DES	Likely benign	-1	RCV003035544;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285315	220285315		-
NM_001927.4(DES):c.839A>G (p.Gln280Arg)	1674	DES	Uncertain significance	750160975	RCV000693121;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285320	220285320	NC_000002.11:g.220285320A>G	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.840G>C (p.Gln280His)	1674	DES	Uncertain significance	1954420895	RCV001297487;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285321	220285321	220285321	-
NM_001927.4(DES):c.840G>A (p.Gln280=)	1674	DES	Likely benign	1954420895	RCV001443760;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285321	220285321	220285321	-
NM_001927.4(DES):c.845A>G (p.Glu282Gly)	1674	DES	Uncertain significance	-1	RCV003026467\|RCV003274148;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285326	220285326	NC_000002.11:g.220285326A>G	-
NM_001927.4(DES):c.852C>T (p.Ile284=)	1674	DES	Likely benign	-1	RCV002586305;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285333	220285333		-
NM_001927.4(DES):c.853G>A (p.Ala285Thr)	1674	DES	Uncertain significance	876657771	RCV000221598\|RCV000804446;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285334	220285334	NC_000002.11:g.220285334G>A	ClinGen:CA10576590	CN169374 not specified;
NM_001927.4(DES):c.854C>T (p.Ala285Val)	1674	DES	Conflicting interpretations of pathogenicity	1368507241	RCV001171068\|RCV001873578;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285335	220285335	2:g.220285335C>T	-
NM_001927.4(DES):c.855G>A (p.Ala285=)	1674	DES	Likely benign	139818514	RCV001442060\|RCV002449192;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285336	220285336	220285336	-
NM_001927.4(DES):c.858T>C (p.Ala286=)	1674	DES	Likely benign	2125167964	RCV001408037;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285339	220285339	220285339	-
NM_001927.4(DES):c.869C>A (p.Ser290Tyr)	1674	DES	Uncertain significance	981782522	RCV000817146\|RCV001256942;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285350	220285350	2:g.220285350C>A	-
NM_001927.4(DES):c.876T>C (p.Ala292=)	1674	DES	Likely benign	-1	RCV002851716;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285357	220285357		-
NM_001927.4(DES):c.883T>G (p.Trp295Gly)	1674	DES	Conflicting interpretations of pathogenicity	794728986	RCV000183350\|RCV001337313;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285364	220285364	2:g.220285364T>G	ClinGen:CA308266	CN517202 not provided;
NM_001927.4(DES):c.885G>A (p.Trp295Ter)	1674	DES	Pathogenic/Likely pathogenic	146755676	RCV001383569\|RCV002224082\|RCV002476724;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:000840	2	220285366	220285366	220285366	-
NM_001927.4(DES):c.886T>C (p.Tyr296His)	1674	DES	Uncertain significance	2125167990	RCV001926671;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285367	220285367	220285367	-
NM_001927.4(DES):c.891G>A (p.Lys297=)	1674	DES	Likely benign	-1	RCV002994854;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285372	220285372		-
NM_001927.4(DES):c.894G>A (p.Ser298=)	1674	DES	Likely benign	747073500	RCV000213833\|RCV000556100\|RCV001726047\|RCV002444853;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MedGen:CN230736	2	220285375	220285375	NC_000002.11:g.220285375G>A	ClinGen:CA2125169	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.897+4_897+5del	1674	DES	Benign/Likely benign	397516699	RCV000037255\|RCV000298076\|RCV000304469\|RCV000352919\|RCV000462365\|RCV000770170\|RCV001258319\|RCV001610325\|RCV002482986\|RCV002444477;	N	MedGen:CN169374\|MedGen:CN239446\|Human Phenotype Ontology:HP:0003704,MedGen:C1842161\|MedGen:CN239310\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Or	2	220285381	220285382	2:g.220285381_220285382del	ClinGen:CA133882	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.897+4G>A	1674	DES	Uncertain significance	1329171337	RCV001221829;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285382	220285382	2:g.220285382G>A	-
NM_001927.4(DES):c.897+6T>G	1674	DES	Uncertain significance	1954422546	RCV001058934;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285384	220285384	2:g.220285384T>G	-
NM_001927.4(DES):c.897+8G>T	1674	DES	Likely benign	1057520465	RCV002165455;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285386	220285386	220285386	-
NM_001927.4(DES):c.897+10C>T	1674	DES	Likely benign	2125168018	RCV001492594;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285388	220285388	220285388	-
NM_001927.4(DES):c.897+12C>T	1674	DES	Likely benign	771116995	RCV002119043;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285390	220285390	220285390	-
NM_001927.4(DES):c.897+13G>A	1674	DES	Likely benign	201433470	RCV001813133\|RCV001871693;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285391	220285391	220285391	-
NM_001927.4(DES):c.897+15C>T	1674	DES	Likely benign	-1	RCV002997051;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285393	220285393	NC_000002.11:g.220285393C>T	-
NM_001927.4(DES):c.897+16C>T	1674	DES	Benign/Likely benign	370385097	RCV000124667\|RCV002055522;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285394	220285394	2:g.220285394C>T	ClinGen:CA290579	CN169374 not specified;
NM_001927.4(DES):c.897+17G>A	1674	DES	Likely benign	137945254	RCV001877180;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285395	220285395	220285395	-
NM_001927.4(DES):c.898-19C>A	1674	DES	Likely benign	-1	RCV003091217;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285531	220285531	NC_000002.11:g.220285531C>A	-
NM_001927.4(DES):c.898-18C>T	1674	DES	Likely benign	1954425409	RCV002096500;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285532	220285532	220285532	-
NM_001927.4(DES):c.898-17C>T	1674	DES	Likely benign	-1	RCV002881692;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285533	220285533	NC_000002.11:g.220285533C>T	-
NM_001927.4(DES):c.898-16C>T	1674	DES	Likely benign	1490911520	RCV002215022;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285534	220285534	220285534	-
NM_001927.4(DES):c.898-7C>A	1674	DES	Likely benign	-1	RCV003051044;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285543	220285543	NC_000002.11:g.220285543C>A	-
NM_001927.4(DES):c.898-6C>T	1674	DES	Likely benign	2125168127	RCV001406297;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285544	220285544	220285544	-
NM_001927.4(DES):c.898-5C>T	1674	DES	Likely benign	371053066	RCV000440557\|RCV001462740;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285545	220285545	2:g.220285545C>T	ClinGen:CA16604128	CN169374 not specified;
NM_001927.4(DES):c.898G>A (p.Val300Met)	1674	DES	Uncertain significance	2125168133	RCV001952549;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285550	220285550	220285550	-
NM_001927.4(DES):c.904G>C (p.Asp302His)	1674	DES	Uncertain significance	-1	RCV003017478;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285556	220285556	NC_000002.11:g.220285556G>C	-
NM_001927.4(DES):c.906C>A (p.Asp302Glu)	1674	DES	Uncertain significance	1224203630	RCV001322842\|RCV002377405;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285558	220285558	220285558	-
NM_001927.4(DES):c.912C>T (p.Thr304=)	1674	DES	Benign/Likely benign	778826152	RCV000532156\|RCV001171069;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	2	220285564	220285564	2:g.220285564C>T	ClinGen:CA2125185	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.912C>A (p.Thr304=)	1674	DES	Likely benign	778826152	RCV001488207;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285564	220285564	220285564	-
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)	1674	DES	Uncertain significance	-1	RCV003019103;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285573	220285575	NC_000002.11:g.220285573CAA[1]	-
NM_001927.4(DES):c.924C>T (p.Asn308=)	1674	DES	Conflicting interpretations of pathogenicity	578191306	RCV000264452\|RCV000265821\|RCV000328732\|RCV000383286\|RCV000725277\|RCV001088971\|RCV002374459;	N	MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN169374\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MedGen:CN239446\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Me	2	220285576	220285576	2:g.220285576C>T	ClinGen:CA2125188	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.931A>G (p.Asn311Asp)	1674	DES	Uncertain significance	-1	RCV002606746;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285583	220285583	NC_000002.11:g.220285583A>G	-
NM_001927.4(DES):c.933C>T (p.Asn311=)	1674	DES	Likely benign	756434148	RCV000619044\|RCV000862243\|RCV001448677;	N	MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285585	220285585	2:g.220285585C>T	ClinGen:CA2125190	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.934G>A (p.Asp312Asn)	1674	DES	Conflicting interpretations of pathogenicity	34337334	RCV000037257\|RCV000056815\|RCV000245347\|RCV000475003\|RCV000770171\|RCV001137623\|RCV001137622\|RCV001293064\|RCV002265577;	N	MedGen:CN169374\|MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0008407,MedGen:C1867005,OM	2	220285586	220285586	2:g.220285586G>A	ClinGen:CA133883	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.935A>C (p.Asp312Ala)	1674	DES	Conflicting interpretations of pathogenicity	148947510	RCV000037258\|RCV000243219\|RCV000725547\|RCV001085666;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285587	220285587	2:g.220285587A>C	ClinGen:CA133886	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.936C>T (p.Asp312=)	1674	DES	Likely benign	769213907	RCV002112775\|RCV002372928;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285588	220285588	220285588	-
NM_001927.4(DES):c.936C>A (p.Asp312Glu)	1674	DES	Uncertain significance	-1	RCV002295129;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285588	220285588	220285588	-
NM_001927.4(DES):c.937G>A (p.Ala313Thr)	1674	DES	Uncertain significance	766252091	RCV000219149\|RCV000819601\|RCV001570755\|RCV002444861\|RCV003335234;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154	2	220285589	220285589	NC_000002.11:g.220285589G>A	ClinGen:CA2125192	CN169374 not specified;
NM_001927.4(DES):c.939C>T (p.Ala313=)	1674	DES	Likely benign	1060504848	RCV000457143;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285591	220285591	NC_000002.11:g.220285591C>T	ClinGen:CA16610671	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.943C>T (p.Arg315Cys)	1674	DES	Uncertain significance	748742357	RCV000651543\|RCV003144448;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285595	220285595	2:g.220285595C>T	ClinGen:CA2125193	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.944G>A (p.Arg315His)	1674	DES	Uncertain significance	771455648	RCV000401481\|RCV001373833\|RCV002374483;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285596	220285596	2:g.220285596G>A	ClinGen:CA2125194	CN169374 not specified;
NM_001927.4(DES):c.961A>G (p.Met321Val)	1674	DES	Uncertain significance	1954427673	RCV002047939;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285613	220285613	220285613	-
NM_001927.4(DES):c.962T>C (p.Met321Thr)	1674	DES	Uncertain significance	760197212	RCV000734711\|RCV001855818;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285614	220285614	NC_000002.11:g.220285614T>C	-
NM_001927.4(DES):c.962T>A (p.Met321Lys)	1674	DES	Uncertain significance	-1	RCV003083886;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285614	220285614	NC_000002.11:g.220285614T>A	-
NM_001927.4(DES):c.973C>T (p.Arg325Ter)	1674	DES	Pathogenic/Likely pathogenic	959034410	RCV001092431\|RCV001382898;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285625	220285625	2:g.220285625C>T	-
NM_001927.4(DES):c.974G>A (p.Arg325Gln)	1674	DES	Uncertain significance	766035912	RCV000221526\|RCV000807006;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285626	220285626	NC_000002.11:g.220285626G>A	ClinGen:CA2125197	CN169374 not specified;
NM_001927.4(DES):c.975A>G (p.Arg325=)	1674	DES	Likely benign	1575014604	RCV002219030;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285627	220285627	220285627	-
NM_001927.4(DES):c.976C>T (p.His326Tyr)	1674	DES	Conflicting interpretations of pathogenicity	794728987	RCV000183352\|RCV000459000\|RCV001798637;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	2	220285628	220285628	2:g.220285628C>T	ClinGen:CA308269	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.977A>G (p.His326Arg)	1674	DES	Uncertain significance	2125168243	RCV001990577\|RCV002223139;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154	2	220285629	220285629	220285629	-
NM_001927.4(DES):c.978C>T (p.His326=)	1674	DES	Likely benign	-1	RCV003076352;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285630	220285630		-
NM_001927.4(DES):c.985C>T (p.Gln329Ter)	1674	DES	Conflicting interpretations of pathogenicity	759320891	RCV000622709\|RCV002223889\|RCV002265821\|RCV002385957\|RCV002531873;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285637	220285637	2:g.220285637C>T	ClinGen:CA2125199	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_001927.4(DES):c.986A>C (p.Gln329Pro)	1674	DES	Uncertain significance	1060503168	RCV000468065\|RCV000481645;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285638	220285638	NC_000002.11:g.220285638A>C	ClinGen:CA16610787	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.991T>A (p.Tyr331Asn)	1674	DES	Uncertain significance	1064795298	RCV000479076\|RCV001851216;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285643	220285643	2:g.220285643T>A	ClinGen:CA16617480	CN169374 not specified;
NM_001927.4(DES):c.992A>C (p.Tyr331Ser)	1674	DES	Uncertain significance	1954428602	RCV001208564;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285644	220285644	2:g.220285644A>C	-
NM_001927.4(DES):c.993C>T (p.Tyr331=)	1674	DES	Likely benign	200858541	RCV001411208;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285645	220285645	220285645	-
NM_001927.4(DES):c.995C>T (p.Thr332Ile)	1674	DES	Uncertain significance	368453327	RCV000697290;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285647	220285647	2:g.220285647C>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.995C>A (p.Thr332Asn)	1674	DES	Uncertain significance	-1	RCV003075980;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285647	220285647	NC_000002.11:g.220285647C>A	-
NM_001927.4(DES):c.997T>C (p.Cys333Arg)	1674	DES	Uncertain significance	-1	RCV002932261;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285649	220285649	NC_000002.11:g.220285649T>C	-
NM_001927.4(DES):c.999C>T (p.Cys333=)	1674	DES	Conflicting interpretations of pathogenicity	1157722667	RCV000614852\|RCV000705592\|RCV001288588;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285651	220285651	2:g.220285651C>T	ClinGen:CA431428180	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1000G>A (p.Glu334Lys)	1674	DES	Uncertain significance	1227068284	RCV000805331;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285652	220285652	2:g.220285652G>A	-
NM_001927.4(DES):c.1004T>C (p.Ile335Thr)	1674	DES	Uncertain significance	1954429245	RCV001322764;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285656	220285656	220285656	-
NM_001927.4(DES):c.1008C>T (p.Asp336=)	1674	DES	Likely benign	531293539	RCV000937182\|RCV002454135;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220285660	220285660	2:g.220285660C>T	-
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	1674	DES	Pathogenic	59962885	RCV000056762\|RCV000856836\|RCV002265557;	N	MedGen:C3661900\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285661	220285661	2:g.220285661G>C	ClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)	1674	DES	Uncertain significance	59962885	RCV000423698\|RCV000695966\|RCV002429386\|RCV002481307\|RCV003448306;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MO	2	220285661	220285661	2:g.220285661G>A	ClinGen:CA2125204	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1009G>T (p.Ala337Ser)	1674	DES	Uncertain significance	59962885	RCV001977351;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285661	220285661	220285661	-
NM_001927.4(DES):c.1010C>A (p.Ala337Asp)	1674	DES	Uncertain significance	1954429477	RCV001317907;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285662	220285662	220285662	-
NM_001927.4(DES):c.1011C>T (p.Ala337=)	1674	DES	Likely benign	369537705	RCV000651550;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285663	220285663	2:g.220285663C>T	ClinGen:CA2125205	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)	1674	DES	Pathogenic/Likely pathogenic	57496341	RCV000056763\|RCV000796175;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285665	220285665	NC_000002.11:g.220285665T>G	ClinGen:CA216999,UniProtKB:P17661#VAR_067209	CN517202 not provided;
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)	1674	DES	Likely pathogenic	57496341	RCV000227930;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285665	220285665	2:g.220285665T>C	ClinGen:CA10581950	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1014G>C (p.Leu338=)	1674	DES	Benign	12920	RCV000037222\|RCV000250707\|RCV000270208\|RCV000293964\|RCV000388336\|RCV000710116\|RCV001509598;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN239446\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543,O	2	220285666	220285666	2:g.220285666G>C	ClinGen:CA133802	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1017G>C (p.Lys339Asn)	1674	DES	Uncertain significance	1954429823	RCV001324651;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285669	220285669	220285669	-
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)	1674	DES	Uncertain significance	1559353118	RCV000696219\|RCV001766504;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285671	220285671	NC_000002.11:g.220285671G>A	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1022C>T (p.Thr341Ile)	1674	DES	Uncertain significance	1338606921	RCV001231848;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285674	220285674	2:g.220285674C>T	-
NM_001927.4(DES):c.1023+6_1023+24dup	1674	DES	Uncertain significance	-1	RCV002913839\|RCV003128873;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220285678	220285679	NC_000002.11:g.220285681_220285699dup	-
NM_001927.4(DES):c.1023+5G>C	1674	DES	Uncertain significance	-1	RCV002288236;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285680	220285680	220285680	-
NM_001927.4(DES):c.1023+5G>A	1674	DES	Uncertain significance	-1	RCV003051304;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285680	220285680	NC_000002.11:g.220285680G>A	-
NM_001927.4(DES):c.1023+6T>G	1674	DES	Uncertain significance	1039179103	RCV001359835\|RCV001779159;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220285681	220285681	220285681	-
NM_001927.4(DES):c.1023+8C>A	1674	DES	Likely benign	749582840	RCV002107937;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285683	220285683	220285683	-
NM_001927.4(DES):c.1023+15A>G	1674	DES	Likely benign	755376246	RCV002215769;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220285690	220285690	220285690	-
NM_001927.4(DES):c.1024-18G>T	1674	DES	Likely benign	1272088858	RCV002084398;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286044	220286044	220286044	-
NM_001927.4(DES):c.1024-17T>G	1674	DES	Likely benign	756252550	RCV002200310;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286045	220286045	220286045	-
NM_001927.4(DES):c.1024-17T>C	1674	DES	Likely benign	756252550	RCV002145492;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286045	220286045	220286045	-
NM_001927.4(DES):c.1024-11dup	1674	DES	Benign	1954436789	RCV002197263;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286046	220286047	220286046	-
NM_001927.4(DES):c.1024-14C>T	1674	DES	Likely benign	1954436833	RCV002084290;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286048	220286048	220286048	-
NM_001927.4(DES):c.1024-11C>T	1674	DES	Likely benign	566280820	RCV000428215\|RCV002522377;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286051	220286051	2:g.220286051C>T	ClinGen:CA16604393	CN169374 not specified;
NM_001927.4(DES):c.1024-11C>A	1674	DES	Likely benign	566280820	RCV002075238;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286051	220286051	220286051	-
NM_001927.4(DES):c.1024-10del	1674	DES	Likely benign	-1	RCV003019067;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286052	220286052	NC_000002.11:g.220286052del	-
NM_001927.4(DES):c.1024-9C>T	1674	DES	Likely benign	201552590	RCV001416080;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286053	220286053	2:g.220286053C>T	-
NM_001927.4(DES):c.1024-7C>G	1674	DES	Likely benign	779098835	RCV000605247\|RCV001053183\|RCV001703212;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220286055	220286055	2:g.220286055C>G	ClinGen:CA2125227	CN169374 not specified;
NM_001927.4(DES):c.1024-7C>T	1674	DES	Likely benign	779098835	RCV001392753;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286055	220286055	2:g.220286055C>T	-
NM_001927.4(DES):c.1024-3C>A	1674	DES	Conflicting interpretations of pathogenicity	1553603530	RCV000605073\|RCV000819113\|RCV003338687;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286059	220286059	NC_000002.11:g.220286059C>A	ClinGen:CA658796175	CN169374 not specified;
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)	1674	DES	Pathogenic	267607482	RCV000056764\|RCV001380949;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286062	220286062	2:g.220286062A>G	ClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)	1674	DES	Likely pathogenic	1954437523	RCV001039536;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286063	220286064	2:g.220286063_220286064insCGATTC	-
NM_001927.4(DES):c.1026C>T (p.Asn342=)	1674	DES	Benign/Likely benign	61731508	RCV000037223\|RCV000248571\|RCV000281168\|RCV000348859\|RCV000336268\|RCV000459928\|RCV000770172\|RCV001529517;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO: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:363543, Orphanet:98909\|Hu	2	220286064	220286064	2:g.220286064C>T	ClinGen:CA133805	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)	1674	DES	Uncertain significance	763903197	RCV000651546\|RCV000726231\|RCV002503715;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:000840	2	220286065	220286065	2:g.220286065G>A	ClinGen:CA308272	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1030T>C (p.Ser344Pro)	1674	DES	Uncertain significance	886044226	RCV000326408\|RCV002519324;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286068	220286068	2:g.220286068T>C	ClinGen:CA10606502	CN169374 not specified;
NM_001927.4(DES):c.1031C>G (p.Ser344Cys)	1674	DES	Uncertain significance	-1	RCV003314411;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286069	220286069		-
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)	1674	DES	Pathogenic/Likely pathogenic	57639980	RCV000056765\|RCV001044194;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286072	220286072	2:g.220286072T>C	ClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1038G>A (p.Met346Ile)	1674	DES	Uncertain significance	778340812	RCV000230628\|RCV002392690\|RCV002487064;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C183237	2	220286076	220286076	NC_000002.11:g.220286076G>A	ClinGen:CA2125228	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1041G>A (p.Arg347=)	1674	DES	Likely benign	2125168616	RCV001465931;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286079	220286079	220286079	-
NM_001927.4(DES):c.1043A>C (p.Gln348Pro)	1674	DES	Pathogenic	1411703397	RCV002265873;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286081	220286081	NC_000002.11:g.220286081A>C	-
NM_001927.4(DES):c.1043A>T (p.Gln348Leu)	1674	DES	Uncertain significance	1411703397	RCV001911786;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286081	220286081	220286081	-
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	1674	DES	Pathogenic	57965306	RCV000018329\|RCV000056767\|RCV000651542;	N	MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286087	220286087	2:g.220286087G>C	ClinGen:CA126906,UniProtKB:P17661#VAR_042454,OMIM:125660.0016	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)	1674	DES	Uncertain significance	57965306	RCV000732254\|RCV001067513\|RCV002388369\|RCV002477711;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146;	2	220286087	220286087	NC_000002.11:g.220286087G>A	-
NM_001927.4(DES):c.1049G>T (p.Arg350Leu)	1674	DES	Uncertain significance	57965306	RCV001225519;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286087	220286087	2:g.220286087G>T	-
NM_001927.4(DES):c.1050G>A (p.Arg350=)	1674	DES	Conflicting interpretations of pathogenicity	769505280	RCV000591558\|RCV001495092;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286088	220286088	2:g.220286088G>A	ClinGen:CA2125231	CN169374 not specified;
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)	1674	DES	Likely pathogenic	775085773	RCV001218064;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286093	220286093	2:g.220286093T>C	-
NM_001927.4(DES):c.1059G>A (p.Glu353=)	1674	DES	Likely benign	1575014856	RCV001418497;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286097	220286097	2:g.220286097G>A	-
NM_001927.4(DES):c.1063C>G (p.Arg355Gly)	1674	DES	Uncertain significance	762808690	RCV000793550;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286101	220286101	2:g.220286101C>G	-
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)	1674	DES	Conflicting interpretations of pathogenicity	61368398	RCV000056768\|RCV000799745;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286102	220286102	NC_000002.11:g.220286102G>C	ClinGen:CA217005,UniProtKB:P17661#VAR_042455	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)	1674	DES	Uncertain significance	61368398	RCV000456946\|RCV000480721\|RCV002489074;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C183237	2	220286102	220286102	NC_000002.11:g.220286102G>A	ClinGen:CA2125234	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)	1674	DES	Pathogenic	58409037	RCV000056770\|RCV002274893;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286107	220286115	2:g.220286107_220286115del	ClinGen:CA217009,OMIM:125660.0012	CN517202 not provided;
NM_001927.4(DES):c.1078G>C (p.Ala360Pro)	1674	DES	Pathogenic	121913000	RCV002265558;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286116	220286116	2:g.220286116G>C	UniProtKB:P17661#VAR_007901,OMIM:125660.0002,ClinGen:CA257642	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)	1674	DES	Uncertain significance	121913000	RCV002027221\|RCV003146490\|RCV002486738;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:000840	2	220286116	220286116	220286116	-
NM_001927.4(DES):c.1079C>T (p.Ala360Val)	1674	DES	Uncertain significance	141592925	RCV001314645\|RCV002418949\|RCV002486230\|RCV003166796;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011	2	220286117	220286117	220286117	-
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)	1674	DES	Uncertain significance	-1	RCV002588503;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286123	220286123	NC_000002.11:g.220286123G>A	-
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)	1674	DES	Pathogenic	1575014889	RCV002265918;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286127	220286144	2:g.220286127_220286144del	-
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)	1674	DES	Uncertain significance	1224165687	RCV001349920\|RCV003169728\|RCV003145601;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900	2	220286128	220286128	220286128	-
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)	1674	DES	Pathogenic	1224165687	RCV001960550;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286128	220286128	220286128	-
NM_001927.4(DES):c.1092G>T (p.Gln364His)	1674	DES	Uncertain significance	-1	RCV002795732;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286130	220286130	NC_000002.11:g.220286130G>T	-
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)	1674	DES	Conflicting interpretations of pathogenicity	58687088	RCV000056771\|RCV001316353;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286132	220286134	2:g.220286132_220286134del	ClinGen:CA217012,OMIM:125660.0013	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1099A>C (p.Ile367Leu)	1674	DES	Uncertain significance	62636494	RCV001303801;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286137	220286137	220286137	-
NM_001927.4(DES):c.1099A>G (p.Ile367Val)	1674	DES	Uncertain significance	62636494	RCV003120638\|RCV003161137\|RCV001585010;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:C3661900	2	220286137	220286137	220286137	-
NM_001927.4(DES):c.1100T>C (p.Ile367Thr)	1674	DES	Uncertain significance	1480755998	RCV000595412\|RCV000796751;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286138	220286138	NC_000002.11:g.220286138T>C	ClinGen:CA350694218	CN169374 not specified;
NM_001927.4(DES):c.1101T>C (p.Ile367=)	1674	DES	Likely benign	1575014904	RCV001457398;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286139	220286139	2:g.220286139T>C	-
NM_001927.4(DES):c.1103C>T (p.Ala368Val)	1674	DES	Uncertain significance	371830218	RCV001049965\|RCV002429640\|RCV003145294;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:CN517202	2	220286141	220286141	2:g.220286141C>T	-
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val)	1674	DES	Uncertain significance	2125168708	RCV001967470;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286141	220286142	220286141	-
NM_001927.4(DES):c.1104G>A (p.Ala368=)	1674	DES	Benign	1058284	RCV000037225\|RCV000242476\|RCV000305879\|RCV000342152\|RCV000403379\|RCV000710117\|RCV001509599;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:CN239446\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543,O	2	220286142	220286142	2:g.220286142G>A	ClinGen:CA133811	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys)	1674	DES	Uncertain significance	2125168717	RCV001997171\|RCV002497854;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C186700	2	220286142	220286143	220286142	-
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)	1674	DES	Uncertain significance	1475674849	RCV000590176\|RCV000706363\|RCV002438526\|RCV002491167;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MO	2	220286143	220286143	NC_000002.11:g.220286143C>T	ClinGen:CA350694256	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1106G>T (p.Arg369Leu)	1674	DES	Uncertain significance	1168604493	RCV001362569;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286144	220286144	220286144	-
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)	1674	DES	Pathogenic	59308628	RCV000056773\|RCV001043598;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286147	220286147	2:g.220286147T>C	ClinGen:CA217018,UniProtKB:P17661#VAR_042457	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)	1674	DES	Uncertain significance	2125168730	RCV001360049\|RCV003147623\|RCV003147622;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154	2	220286148	220286150	220286147	-
NM_001927.4(DES):c.1116G>A (p.Glu372=)	1674	DES	Likely benign	752030448	RCV002178666;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286154	220286154	220286154	-
NM_001927.4(DES):c.1119A>C (p.Glu373Asp)	1674	DES	Uncertain significance	780628142	RCV001058783;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286157	220286157	2:g.220286157A>C	-
NM_001927.4(DES):c.1122C>A (p.Ile374=)	1674	DES	Likely benign	-1	RCV003054632;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286160	220286160		-
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)	1674	DES	Uncertain significance	375218723	RCV000544077\|RCV001256941\|RCV001580010\|RCV002485224\|RCV003298238;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200, Orphanet:300751\|MedGen:C3661900\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C18670	2	220286161	220286161	2:g.220286161C>T	ClinGen:CA308275	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)	1674	DES	Uncertain significance	-1	RCV002628786;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286162	220286162	NC_000002.11:g.220286162G>A	-
NM_001927.4(DES):c.1126C>G (p.His376Asp)	1674	DES	Uncertain significance	-1	RCV003063512;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286164	220286164	NC_000002.11:g.220286164C>G	-
NM_001927.4(DES):c.1132_1153del (p.Lys378fs)	1674	DES	Pathogenic	1575014943	RCV000794311;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286168	220286189	2:g.220286168_220286189del	-
NM_001927.4(DES):c.1130T>C (p.Leu377Pro)	1674	DES	Likely pathogenic	1432061016	RCV001975552;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286168	220286168	220286168	-
NM_001927.4(DES):c.1133A>G (p.Lys378Arg)	1674	DES	Uncertain significance	202010947	RCV001980651;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286171	220286171	220286171	-
NM_001927.4(DES):c.1134G>A (p.Lys378=)	1674	DES	Likely benign	1575014950	RCV000937358;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286172	220286172	2:g.220286172G>A	-
NM_001927.4(DES):c.1142T>C (p.Met381Thr)	1674	DES	Uncertain significance	779749720	RCV001042104;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286180	220286180	2:g.220286180T>C	-
NM_001927.4(DES):c.1144G>A (p.Ala382Thr)	1674	DES	Uncertain significance	1954441688	RCV001236253;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286182	220286182	2:g.220286182G>A	-
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)	1674	DES	Uncertain significance	748945548	RCV001043088\|RCV001528706;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220286185	220286185	2:g.220286185C>T	-
NM_001927.4(DES):c.1147C>A (p.Arg383Ser)	1674	DES	Uncertain significance	748945548	RCV001976802\|RCV003402003;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|	2	220286185	220286185	220286185	-
NM_001927.4(DES):c.1148G>A (p.Arg383His)	1674	DES	Conflicting interpretations of pathogenicity	1292042317	RCV000596564\|RCV001071277\|RCV002456298\|RCV002476290\|RCV003388837;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:001107	2	220286186	220286186	2:g.220286186G>A	ClinGen:CA350694581	CN169374 not specified;
NM_001927.4(DES):c.1148G>C (p.Arg383Pro)	1674	DES	Uncertain significance	1292042317	RCV001059163;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286186	220286186	2:g.220286186G>C	-
NM_001927.4(DES):c.1151A>G (p.His384Arg)	1674	DES	Likely pathogenic	1553603566	RCV002265824;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286189	220286189	NC_000002.11:g.220286189A>G	ClinGen:CA350694607	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1153C>G (p.Leu385Val)	1674	DES	Uncertain significance	1393155504	RCV002012418\|RCV003170446;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286191	220286191	220286191	-
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)	1674	DES	Pathogenic	57955682	RCV000056775\|RCV002265562;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286192	220286192	2:g.220286192T>C	ClinGen:CA217023,UniProtKB:P17661#VAR_018771,OMIM:125660.0010	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1156C>T (p.Arg386Cys)	1674	DES	Uncertain significance	369765867	RCV001962221;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286194	220286194	220286194	-
NM_001927.4(DES):c.1158C>T (p.Arg386=)	1674	DES	Conflicting interpretations of pathogenicity	774323736	RCV000651545\|RCV000725757\|RCV001171070\|RCV002365317;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736	2	220286196	220286196	2:g.220286196C>T	ClinGen:CA2125250	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1158_1160del (p.Glu387del)	1674	DES	Uncertain significance	1559353314	RCV000686082\|RCV001592862;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220286196	220286198	NC_000002.11:g.220286196_220286198del	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1159G>A (p.Glu387Lys)	1674	DES	Uncertain significance	865961434	RCV000234622;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286197	220286197	NC_000002.11:g.220286197G>A	ClinGen:CA10581951	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)	1674	DES	Pathogenic	121913004	RCV000056776\|RCV002265563;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286204	220286204	2:g.220286204A>C	ClinGen:CA217025,UniProtKB:P17661#VAR_018772,OMIM:125660.0011	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)	1674	DES	Uncertain significance	-1	RCV002304608;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286204	220286204	220286204	-
NM_001927.4(DES):c.1171del (p.Leu391fs)	1674	DES	Pathogenic	-1	RCV002781192;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286208	220286208	NC_000002.11:g.220286209del	-
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)	1674	DES	Uncertain significance	1954443135	RCV001307759\|RCV003145544;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220286210	220286210	220286210	-
NM_001927.4(DES):c.1172T>G (p.Leu391Arg)	1674	DES	Uncertain significance	1954443135	RCV001324035;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286210	220286210	220286210	-
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)	1674	DES	Uncertain significance	121913001	RCV000056778\|RCV002265559\|RCV003162255;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286216	220286216	2:g.220286216A>T	ClinGen:CA217030,UniProtKB:P17661#VAR_007902,OMIM:125660.0003	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1179C>T (p.Asn393=)	1674	DES	Likely benign	955390251	RCV000651551;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286217	220286217	NC_000002.11:g.220286217C>T	ClinGen:CA65983651	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1180G>A (p.Val394Met)	1674	DES	Conflicting interpretations of pathogenicity	776786349	RCV000335144\|RCV001171071\|RCV001441657\|RCV003352824;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286218	220286218	2:g.220286218G>A	ClinGen:CA2125253	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1180G>T (p.Val394Leu)	1674	DES	Uncertain significance	776786349	RCV000693973;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286218	220286218	2:g.220286218G>T	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1185G>A (p.Lys395=)	1674	DES	Likely benign	1386068029	RCV002213719;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286223	220286223	220286223	-
NM_001927.4(DES):c.1189G>T (p.Ala397Ser)	1674	DES	Uncertain significance	727502951	RCV002000467\|RCV003146444;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220286227	220286227	220286227	-
NM_001927.4(DES):c.1191C>T (p.Ala397=)	1674	DES	Likely benign	1157219537	RCV001453521;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286229	220286229	220286229	-
NM_001927.4(DES):c.1193T>C (p.Leu398Pro)	1674	DES	Uncertain significance	796115330	RCV001234016;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286231	220286231	2:g.220286231T>C	-
NM_001927.4(DES):c.1193del (p.Leu398fs)	1674	DES	Uncertain significance	2125168879	RCV001941271;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286231	220286231	220286230	-
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)	1674	DES	Likely pathogenic	61130669	RCV000056779\|RCV002265588;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286233	220286233	2:g.220286233G>T	ClinGen:CA217032,UniProtKB:P17661#VAR_067210	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)	1674	DES	Likely pathogenic	57694264	RCV000056780\|RCV001064294;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286239	220286239	2:g.220286239G>A	ClinGen:CA284671,UniProtKB:P17661#VAR_067211	CN517202 not provided;
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)	1674	DES	Likely pathogenic	1954444202	RCV001245293;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286240	220286240	2:g.220286240A>G	-
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)	1674	DES	Conflicting interpretations of pathogenicity	2125168897	RCV002343849\|RCV002541189;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286241	220286241	220286241	-
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)	1674	DES	Uncertain significance	1553603571	RCV000802498\|RCV002345640;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286243	220286243	2:g.220286243T>C	-
NM_001927.4(DES):c.1205T>G (p.Ile402Ser)	1674	DES	Uncertain significance	1553603571	RCV001300566;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286243	220286243	220286243	-
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)	1674	DES	Uncertain significance	-1	RCV003037634;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286246	220286246	NC_000002.11:g.220286246C>A	-
NM_001927.4(DES):c.1209C>T (p.Ala403=)	1674	DES	Likely benign	200054661	RCV001405896\|RCV002358905;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286247	220286247	220286247	-
NM_001927.4(DES):c.1213del (p.Tyr405fs)	1674	DES	Pathogenic	886043080	RCV000283285\|RCV000696661;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286251	220286251	2:g.220286251_220286251del	ClinGen:CA10605083	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)	1674	DES	Likely pathogenic	2125168913	RCV002010793;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286252	220286252	220286252	-
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	1674	DES	Pathogenic/Likely pathogenic	121913003	RCV000056781\|RCV000627795\|RCV001798009\|RCV001787806;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247	2	220286254	220286254	2:g.220286254C>T	ClinGen:CA257646,UniProtKB:P17661#VAR_042458,OMIM:125660.0007	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)	1674	DES	Uncertain significance	1057520275	RCV000437250\|RCV001313201\|RCV002356524\|RCV002488876\|RCV003409586;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MO	2	220286255	220286255	2:g.220286255G>A	ClinGen:CA16604146	CN517202 not provided;
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)	1674	DES	Likely pathogenic	-1	RCV003042121;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286255	220286255	NC_000002.11:g.220286255G>C	-
NM_001927.4(DES):c.1219A>C (p.Lys407Gln)	1674	DES	Uncertain significance	1553603573	RCV000551956;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286257	220286257	NC_000002.11:g.220286257A>C	ClinGen:CA350695023	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1224G>A (p.Leu408=)	1674	DES	Likely benign	1454100254	RCV002202461;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286262	220286262	220286262	-
NM_001927.4(DES):c.1227G>A (p.Leu409=)	1674	DES	Likely benign	143954788	RCV000618446\|RCV001443001;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286265	220286265	NC_000002.11:g.220286265G>A	ClinGen:CA2125256	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1227G>T (p.Leu409=)	1674	DES	Likely benign	143954788	RCV001446733\|RCV002368378;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220286265	220286265	220286265	-
NM_001927.4(DES):c.1228G>A (p.Glu410Lys)	1674	DES	Uncertain significance	2125168940	RCV001372037;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286266	220286266	220286266	-
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)	1674	DES	Uncertain significance	-1	RCV002991421;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286274	220286274	NC_000002.11:g.220286274G>T	-
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)	1674	DES	Pathogenic/Likely pathogenic	61726467	RCV000056782\|RCV000685786;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286275	220286275	2:g.220286275G>A	ClinGen:CA284673	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)	1674	DES	Pathogenic	61726467	RCV000792525;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286275	220286275	2:g.220286275G>T	-
NM_001927.4(DES):c.1238A>G (p.Glu413Gly)	1674	DES	Uncertain significance	1954445270	RCV001229059;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286276	220286276	2:g.220286276A>G	-
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)	1674	DES	Uncertain significance	-1	RCV002995610;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286278	220286278	NC_000002.11:g.220286278A>G	-
NM_001927.4(DES):c.1243del (p.Arg415fs)	1674	DES	Uncertain significance	1954445390	RCV001059576;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286280	220286280	2:g.220286280_220286280del	-
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)	1674	DES	Uncertain significance	751942358	RCV000532526\|RCV000656841\|RCV002265670\|RCV002381604\|RCV002492826;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MO	2	220286281	220286281	2:g.220286281C>T	ClinGen:CA308281	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)	1674	DES	Uncertain significance	751942358	RCV001367750\|RCV001762638;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220286281	220286281	220286281	-
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)	1674	DES	Uncertain significance	1262288015	RCV000770173\|RCV001352202\|RCV002487571;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:M	2	220286282	220286282	NC_000002.11:g.220286282G>A	-
NM_001927.4(DES):c.1244+1G>A	1674	DES	Likely pathogenic	-1	RCV002953882;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286283	220286283	NC_000002.11:g.220286283G>A	-
NM_001927.4(DES):c.1244+8G>A	1674	DES	Likely benign	-1	RCV003055558;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286290	220286290	NC_000002.11:g.220286290G>A	-
NM_001927.4(DES):c.1244+12G>T	1674	DES	Likely benign	-1	RCV002716210;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286294	220286294	NC_000002.11:g.220286294G>T	-
NM_001927.4(DES):c.1244+17G>C	1674	DES	Likely benign	750992468	RCV000442250\|RCV002525349;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286299	220286299	2:g.220286299G>C	ClinGen:CA2125261	CN169374 not specified;
NM_001927.4(DES):c.1244+20C>T	1674	DES	Likely benign	1205670028	RCV002162444;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220286302	220286302	220286302	-
NC_000002.11:g.(?_220288441)_(220288541_?)dup	1674	DES	Uncertain significance	-1	RCV001877605;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288441	220288541	-1	-
NM_001927.4(DES):c.1245-11T>C	1674	DES	Likely benign	-1	RCV002694806;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288488	220288488	NC_000002.11:g.220288488T>C	-
NM_001927.4(DES):c.1245-7C>G	1674	DES	Likely benign	-1	RCV002952910;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288492	220288492	NC_000002.11:g.220288492C>G	-
NM_001927.4(DES):c.1245-3T>G	1674	DES	Uncertain significance	111427762	RCV000179841\|RCV000246989\|RCV002515283;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288496	220288496	2:g.220288496T>G	ClinGen:CA247144	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1248C>G (p.Ile416Met)	1674	DES	Uncertain significance	-1	RCV002982846;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288502	220288502	NC_000002.11:g.220288502C>G	-
NM_001927.4(DES):c.1250A>G (p.Asn417Ser)	1674	DES	Uncertain significance	376141178	RCV001243751;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288504	220288504	2:g.220288504A>G	-
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	1674	DES	Pathogenic	1553603732	RCV001531343\|RCV002265825;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288506	220288522	NC_000002.11:g.220288509_220288525del	ClinGen:CA658796176	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	1674	DES	Pathogenic/Likely pathogenic	62635763	RCV000056783\|RCV000817811;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288509	220288509	NC_000002.11:g.220288509C>T	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1255C>A (p.Pro419Thr)	1674	DES	Uncertain significance	62635763	RCV000546121;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288509	220288509	NC_000002.11:g.220288509C>A	ClinGen:CA350696531	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1257C>T (p.Pro419=)	1674	DES	Conflicting interpretations of pathogenicity	143154982	RCV000424202\|RCV000558527\|RCV000726966\|RCV002418290;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736	2	220288511	220288511	2:g.220288511C>T	ClinGen:CA2125278	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)	1674	DES	Uncertain significance	1427557970	RCV001762979\|RCV002032785\|RCV002503192;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:000840	2	220288512	220288512	220288512	-
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)	1674	DES	Uncertain significance	-1	RCV002755114;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288513	220288513	NC_000002.11:g.220288513T>C	-
NM_001927.4(DES):c.1262A>G (p.Gln421Arg)	1674	DES	Uncertain significance	756613339	RCV000692846;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288516	220288516	NC_000002.11:g.220288516A>G	-	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1266C>A (p.Thr422=)	1674	DES	Likely benign	1954487738	RCV001455681;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288520	220288520	220288520	-
NM_001927.4(DES):c.1269C>T (p.Tyr423=)	1674	DES	Likely benign	765867148	RCV000862321\|RCV001798993\|RCV003338829;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN230736	2	220288523	220288523	2:g.220288523C>T	-
NM_001927.4(DES):c.1272T>C (p.Ser424=)	1674	DES	Likely benign	370720293	RCV001417835\|RCV002501220\|RCV003362989;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011482,MedGen:C1858	2	220288526	220288526	2:g.220288526T>C	-
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)	1674	DES	not provided	-1	RCV003228700;	N	MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288527	220288527		-
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr)	1674	DES	Uncertain significance	1954488237	RCV001238514;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288533	220288533	2:g.220288533A>T	-
NM_001927.4(DES):c.1280A>G (p.Asn427Ser)	1674	DES	Uncertain significance	142712150	RCV000183357\|RCV002515347;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288534	220288534	2:g.220288534A>G	ClinGen:CA308284	CN169374 not specified;
NM_001927.4(DES):c.1281C>T (p.Asn427=)	1674	DES	Likely benign	17853018	RCV001442427\|RCV002384679;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220288535	220288535	220288535	-
NM_001927.4(DES):c.1285del (p.Arg429fs)	1674	DES	Uncertain significance	1954488513	RCV001321639;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288538	220288538	220288537	-
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)	1674	DES	Uncertain significance	200580581	RCV000357490\|RCV000617457\|RCV000694336\|RCV002487276\|RCV003226276;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MO	2	220288540	220288540	2:g.220288540G>A	ClinGen:CA2125285	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1288G>C (p.Glu430Gln)	1674	DES	Uncertain significance	1042793960	RCV002042919;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288542	220288542	220288542	-
NM_001927.4(DES):c.1288+1G>A	1674	DES	Conflicting interpretations of pathogenicity	112224037	RCV000792330\|RCV002386378\|RCV002462138\|RCV002507362;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909;	2	220288543	220288543	2:g.220288543G>A	-
NM_001927.4(DES):c.1288+11G>A	1674	DES	Likely benign	2125170600	RCV002071240;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288553	220288553	220288553	-
NM_001927.4(DES):c.1288+14G>A	1674	DES	Likely benign	-1	RCV002647518;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288556	220288556	NC_000002.11:g.220288556G>A	-
NM_001927.4(DES):c.1288+20C>T	1674	DES	Likely benign	200657337	RCV000422712\|RCV001865334;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220288562	220288562	2:g.220288562C>T	ClinGen:CA2125290	CN169374 not specified;
NM_001927.4(DES):c.1289-19G>T	1674	DES	Likely benign	2125171911	RCV002079469;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290366	220290366	220290366	-
NM_001927.4(DES):c.1289-19G>A	1674	DES	Likely benign	-1	RCV003020310;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290366	220290366	NC_000002.11:g.220290366G>A	-
NM_001927.4(DES):c.1289-18C>T	1674	DES	Likely benign	367712053	RCV002146931;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290367	220290367	220290367	-
NM_001927.4(DES):c.1289-17G>A	1674	DES	Likely benign	-1	RCV002612086;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290368	220290368	NC_000002.11:g.220290368G>A	-
NM_001927.4(DES):c.1289-11C>T	1674	DES	Likely benign	-1	RCV002586128;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290374	220290374	NC_000002.11:g.220290374C>T	-
NM_001927.4(DES):c.1289-2A>G	1674	DES	Pathogenic/Likely pathogenic	398122940	RCV001781382\|RCV001814034\|RCV002265587;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290383	220290383	2:g.220290383A>G	ClinGen:CA144512,OMIM:125660.0018	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1293C>T (p.Thr431=)	1674	DES	Likely benign	2125171932	RCV002108600;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290389	220290389	220290389	-
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)	1674	DES	Uncertain significance	-1	RCV003048814;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290394	220290394	NC_000002.11:g.220290394C>T	-
NM_001927.4(DES):c.1300G>A (p.Glu434Lys)	1674	DES	Uncertain significance	952020807	RCV000795953;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290396	220290396	2:g.220290396G>A	-
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)	1674	DES	Uncertain significance	-1	RCV002593690;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290397	220290397	NC_000002.11:g.220290397A>G	-
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)	1674	DES	Uncertain significance	-1	RCV003121630;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290399	220290399	NC_000002.11:g.220290399C>A	-
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)	1674	DES	Uncertain significance	-1	RCV002796343;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290399	220290399	NC_000002.11:g.220290399C>G	-
NM_001927.4(DES):c.1310G>A (p.Gly437Asp)	1674	DES	Uncertain significance	878854471	RCV000228426;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290406	220290406	2:g.220290406G>A	ClinGen:CA10581952	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1312T>G (p.Ser438Ala)	1674	DES	Uncertain significance	1553603818	RCV000534573;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290408	220290408	NC_000002.11:g.220290408T>G	ClinGen:CA350698434	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1313C>A (p.Ser438Tyr)	1674	DES	Uncertain significance	-1	RCV002288297;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290409	220290409	220290409	-
NM_001927.4(DES):c.1317G>A (p.Glu439=)	1674	DES	Likely benign	1575016807	RCV002109938;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290413	220290413	220290413	-
NM_001927.4(DES):c.1322A>T (p.His441Leu)	1674	DES	Uncertain significance	1064796937	RCV000479938\|RCV000695478;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290418	220290418	2:g.220290418A>T	ClinGen:CA16617481	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1323T>G (p.His441Gln)	1674	DES	Uncertain significance	751325263	RCV001229432;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290419	220290419	2:g.220290419T>G	-
NM_001927.4(DES):c.1324A>C (p.Thr442Pro)	1674	DES	Uncertain significance	794728995	RCV001912313;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290420	220290420	220290420	-
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	1674	DES	Pathogenic	121913005	RCV000056784\|RCV000811753;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290421	220290421	NC_000002.11:g.220290421C>T	ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)	1674	DES	Uncertain significance	121913005	RCV000770174\|RCV001248642\|RCV001562308\|RCV002386331\|RCV002507336\|RCV003330941;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765,Orphan	2	220290421	220290421	NC_000002.11:g.220290421C>A	-
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)	1674	DES	Uncertain significance	267607498	RCV000056785\|RCV001854165\|RCV002483084\|RCV003162434;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154; MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146; MONDO:MONDO:0011076,MedGen:C183237	2	220290429	220290429	2:g.220290429A>G	ClinGen:CA284676	CN517202 not provided;
NM_001927.4(DES):c.1334C>T (p.Thr445Met)	1674	DES	Uncertain significance	-1	RCV003076321;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290430	220290430	NC_000002.11:g.220290430C>T	-
NM_001927.4(DES):c.1335G>A (p.Thr445=)	1674	DES	Likely benign	780984657	RCV001401019\|RCV003169999;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290431	220290431	220290431	-
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)	1674	DES	Uncertain significance	1064796352	RCV000482752\|RCV003168973\|RCV002525928;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290438	220290446	2:g.220290438_220290446del	ClinGen:CA16617482	CN169374 not specified;
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	1674	DES	Pathogenic/Likely pathogenic	267607485	RCV000056786\|RCV000239724\|RCV001854166;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419, Orphanet:593\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290442	220290442	2:g.220290442A>C	ClinGen:CA217038,UniProtKB:P17661#VAR_042461	C2678065 Myofibrillar myopathy;
NM_001927.4(DES):c.1350C>G (p.Thr450=)	1674	DES	Likely benign	-1	RCV002596929;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290446	220290446		-
NM_001927.4(DES):c.1353C>G (p.Ile451Met)	1674	DES	Conflicting interpretations of pathogenicity	121913002	RCV000018318\|RCV000056787\|RCV000698481\|RCV001140632\|RCV002265561;	N	MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN169374	2	220290449	220290449	2:g.220290449C>G	ClinGen:CA257644,UniProtKB:P17661#VAR_018773,OMIM:125660.0005	C1858154 604765 Dilated cardiomyopathy 1I;
NM_001927.4(DES):c.1353C>T (p.Ile451=)	1674	DES	Conflicting interpretations of pathogenicity	121913002	RCV000219399\|RCV000252451\|RCV000725063\|RCV001085732\|RCV001798700;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	2	220290449	220290449	2:g.220290449C>T	ClinGen:CA2125305	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1354_1358del (p.Glu452fs)	1674	DES	Uncertain significance	1060503171	RCV000456554;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290449	220290453	NC_000002.11:g.220290450_220290454del	ClinGen:CA16610722	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1358C>T (p.Thr453Ile)	1674	DES	Conflicting interpretations of pathogenicity	267607488	RCV000056788\|RCV001854167;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290454	220290454	2:g.220290454C>T	ClinGen:CA217040	CN517202 not provided;
NM_001927.4(DES):c.1359A>C (p.Thr453=)	1674	DES	Likely benign	1397831288	RCV001467657;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290455	220290455	220290455	-
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)	1674	DES	Uncertain significance	541585670	RCV000171885\|RCV001852085\|RCV003298207;	N	MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290457	220290457	2:g.220290457G>A	ClinGen:CA302358	CN517202 not provided;
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)	1674	DES	Uncertain significance	-1	RCV002839334;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290459	220290459	NC_000002.11:g.220290459G>A	-
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)	1674	DES	Uncertain significance	397516690	RCV000037231\|RCV001852772;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290462	220290462	2:g.220290462G>A	ClinGen:CA133826	CN169374 not specified;
NM_001927.4(DES):c.1368G>A (p.Gly456=)	1674	DES	Likely benign	962437326	RCV002109037;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290464	220290464	220290464	-
NM_001927.4(DES):c.1371+1G>A	1674	DES	Conflicting interpretations of pathogenicity	748323823	RCV000183362\|RCV000223904\|RCV000458158\|RCV000622142;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290468	220290468	2:g.220290468G>A	ClinGen:CA308296	CN230736 Cardiovascular phenotype;
NM_001927.4(DES):c.1371+2dup	1674	DES	Uncertain significance	2125172078	RCV001950436\|RCV002386779;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290468	220290469	220290468	-
NM_001927.4(DES):c.1371+1G>T	1674	DES	Uncertain significance	-1	RCV002828727;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290468	220290468	NC_000002.11:g.220290468G>T	-
NM_001927.4(DES):c.1371+13T>G	1674	DES	Likely benign	2125172082	RCV002145378;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290480	220290480	220290480	-
NM_001927.4(DES):c.1372-15T>A	1674	DES	Likely benign	202245617	RCV002145464;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290656	220290656	220290656	-
NM_001927.4(DES):c.1372-3dup	1674	DES	Conflicting interpretations of pathogenicity	876657769	RCV000220968\|RCV000824726\|RCV001440302\|RCV002381742;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290664	220290665	NC_000002.11:g.220290668dup	ClinGen:CA2125316	CN169374 not specified;
NM_001927.4(DES):c.1372-7T>C	1674	DES	Likely benign	889499879	RCV002078627;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290664	220290664	220290664	-
NM_001927.4(DES):c.1372-6C>T	1674	DES	Conflicting interpretations of pathogenicity	-1	RCV002598697\|RCV003435876;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:C3661900	2	220290665	220290665	NC_000002.11:g.220290665C>T	-
NM_001927.4(DES):c.1372-3C>T	1674	DES	Uncertain significance	-1	RCV002928425;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290668	220290668	NC_000002.11:g.220290668C>T	-
NM_001927.4(DES):c.1374C>T (p.Val458=)	1674	DES	Likely benign	727502952	RCV000150383\|RCV001458336\|RCV003162609;	N	MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290673	220290673	2:g.220290673C>T	ClinGen:CA175626	CN169374 not specified;
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)	1674	DES	Uncertain significance	-1	RCV003007225;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290678	220290678	NC_000002.11:g.220290678G>A	-
NM_001927.4(DES):c.1383G>A (p.Glu461=)	1674	DES	Likely benign	2125172248	RCV002218781;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290682	220290682	220290682	-
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)	1674	DES	Uncertain significance	1060503170	RCV000471643\|RCV001770353;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN517202	2	220290684	220290685	NC_000002.11:g.220290684_220290685delinsAG	ClinGen:CA16610673	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1390C>T (p.Gln464Ter)	1674	DES	Uncertain significance	2125172262	RCV001912944;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290689	220290689	220290689	-
NM_001927.4(DES):c.1404A>G (p.Glu468=)	1674	DES	Conflicting interpretations of pathogenicity	397516691	RCV000037233\|RCV000725821\|RCV001078786\|RCV002390149;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909\|MedGen:CN230736	2	220290703	220290703	2:g.220290703A>G	ClinGen:CA133829	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1404A>C (p.Glu468Asp)	1674	DES	Uncertain significance	397516691	RCV000171886\|RCV002390410\|RCV003105808;	N	MedGen:C3661900\|MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290703	220290703	NC_000002.11:g.220290703A>C	ClinGen:CA237073	CN517202 not provided;
NM_001927.4(DES):c.1407G>A (p.Val469=)	1674	DES	Likely benign	1273197280	RCV001435627;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290706	220290706	220290706	-
NM_001927.4(DES):c.1408C>T (p.Leu470Phe)	1674	DES	Uncertain significance	1060503172	RCV000473464;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290707	220290707	NC_000002.11:g.220290707C>T	ClinGen:CA16610675	C3809137 Muscular dystrophy, limb-girdle, type 2R;
NM_001927.4(DES):c.1409T>C (p.Leu470Pro)	1674	DES	Uncertain significance	1954528633	RCV001220826;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290708	220290708	2:g.220290708T>C	-
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)	1674	DES	Conflicting interpretations of pathogenicity	886044329	RCV000296486\|RCV000810748;	N	MedGen:CN517202\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220290710	220290710	NC_000002.11:g.220290710T>C	ClinGen:CA10606626	C1832370 601419 Myofibrillar myopathy 1;
NM_001927.4(DES):c.*51C>A	1674	DES	Conflicting interpretations of pathogenicity	372291142	RCV001142495\|RCV001142496\|RCV002265951;	N	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:363543, Orphanet:98909	2	220290763	220290763	2:g.220290763C>A	-
NM_001927.4(DES):c.*112C>G	1674	DES	Conflicting interpretations of pathogenicity	540351476	RCV001142500\|RCV001142499\|RCV002265952;	N	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:363543, Orphanet:98909	2	220290824	220290824	2:g.220290824C>G	-
NM_001927.4(DES):c.*114G>T	1674	DES	Uncertain significance	755277387	RCV001137741\|RCV001137743\|RCV002265946;	N	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:363543, Orphanet:98909	2	220290826	220290826	2:g.220290826G>T	-
NM_001927.4(DES):c.*198G>A	1674	DES	Conflicting interpretations of pathogenicity	560055588	RCV000276898\|RCV000333057\|RCV000369044\|RCV002265738;	N	MONDO: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:363543, Orphanet:98909	2	220290910	220290910	2:g.220290910G>A	ClinGen:CA10612866	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*280G>A	1674	DES	Uncertain significance	925513578	RCV001139974\|RCV001139975\|RCV002265947;	N	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:363543, Orphanet:98909	2	220290992	220290992	2:g.220290992G>A	-
NM_001927.4(DES):c.*295G>A	1674	DES	Uncertain significance	1954536782	RCV001139976\|RCV001139978\|RCV002265948;	N	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:363543, Orphanet:98909	2	220291007	220291007	2:g.220291007G>A	-
NM_001927.4(DES):c.*308C>A	1674	DES	Conflicting interpretations of pathogenicity	140222667	RCV001140732\|RCV001140733\|RCV002265950;	N	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:363543, Orphanet:98909	2	220291020	220291020	2:g.220291020C>A	-
NM_001927.4(DES):c.*428G>C	1674	DES	Uncertain significance	886055654	RCV000274488\|RCV000320189\|RCV000374631\|RCV002265739;	N	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:363543, Orphanet:98909	2	220291140	220291140	2:g.220291140G>C	ClinGen:CA10612489	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*468G>T	1674	DES	Benign/Likely benign	73085265	RCV000285808\|RCV000316561\|RCV000340737\|RCV001618590\|RCV002265740;	N	MedGen:CN239446\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220291180	220291180	2:g.220291180G>T	ClinGen:CA10612867	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*475T>G	1674	DES	Benign/Likely benign	138913201	RCV001142600\|RCV001142602\|RCV002265953;	N	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:363543, Orphanet:98909	2	220291187	220291187	2:g.220291187T>G	-
NM_001927.4(DES):c.*489G>A	1674	DES	Uncertain significance	886055655	RCV000291587\|RCV000346727\|RCV000405252\|RCV002265741;	N	MONDO: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:363543, Orphanet:98909	2	220291201	220291201	2:g.220291201G>A	ClinGen:CA10614400	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*559G>A	1674	DES	Conflicting interpretations of pathogenicity	547498920	RCV000307082\|RCV000311255\|RCV000371046\|RCV002265742;	N	MONDO: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:363543, Orphanet:98909	2	220291271	220291271	2:g.220291271G>A	ClinGen:CA10614232	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*588G>A	1674	DES	Uncertain significance	746886224	RCV000316883\|RCV000352997\|RCV000356739\|RCV002265743;	N	Human Phenotype Ontology:HP:0003704,MedGen:C1842161\|MedGen:CN239446\|MedGen:CN239310\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220291300	220291300	2:g.220291300G>A	ClinGen:CA10612490	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*662G>A	1674	DES	Benign/Likely benign	116635264	RCV000267489\|RCV000322638\|RCV000377719\|RCV001778926\|RCV002265744;	N	MONDO:MONDO:0008407,MedGen:C1867005,OMIM:181400, Orphanet:85146\|MedGen:CN239446\|MONDO:MONDO:0011482,MedGen:C1858154,OMIM:604765, Orphanet:154\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220291374	220291374	2:g.220291374G>A	ClinGen:CA10614241	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001927.4(DES):c.*695C>T	1674	DES	Uncertain significance	1452548510	RCV001140094\|RCV001140095\|RCV002265949\|RCV002491419;	N	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:363543, Orphanet:98909\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419,Or	2	220291407	220291407	2:g.220291407C>T	-
NM_001927.3(DES):c.*762T>C	1674	DES	Benign	11685408	RCV000260303\|RCV000300241\|RCV000357448\|RCV001653773\|RCV002265749;	N	Human Phenotype Ontology:HP:0003704,MedGen:C1842161\|MedGen:CN239310\|MedGen:CN239446\|MedGen:C3661900\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	220291474	220291474	2:g.220291474T>C	ClinGen:CA10654620	CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)	2318	FLNC	Conflicting interpretations of pathogenicity	387906587	RCV000022429\|RCV000442836\|RCV000600715\|RCV001535684\|RCV001384941;	N	MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013	7	128475604	128475604	7:g.128475604G>A	UniProtKB:Q14315#VAR_066212,OMIM:102565.0004,ClinGen:CA128479	C3279722 614065 Myopathy, distal, 4;
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)	7273	TTN	Likely pathogenic	-1	RCV002337425\|RCV002466287;	N	MedGen:CN230736\|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	179433366	179433366	179433366	-
NM_001267550.2(TTN):c.57545-2A>G	7273	TTN	Pathogenic	-1	RCV002466288;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	179460538	179460538	NC_000002.11:g.179460538T>C	-
NM_001267550.2(TTN):c.32452G>T (p.Glu10818Ter)	7273	TTN	Likely pathogenic	-1	RCV002466294;	N	MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909	2	179549998	179549998	NC_000002.11:g.179549998C>A	-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen