MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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 ..Myotilinopathy (C563775)
Child Nodes:
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:

8543

Name:

Myotilinopathy

Definition:

Alternative IDs:

OMIM:609200

ParentIDs:

MESH:D020914

TreeNumbers:

C05.651.575/C563775 |C10.668.491.550/C563775

Synonyms:

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563775
MeSH: C563775
OMIM: 609200;
MSeqDR :
Genes: MYOT;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0001771	Achilles tendon contracture
4	HP:0001284	Areflexia
5	HP:0001638	Cardiomyopathy
6	HP:0003693	Distal amyotrophy
7	HP:0003236	Elevated serum creatine phosphokinase
8	HP:0002600	Hyporeflexia of lower limbs
9	HP:0100303	Muscle fiber cytoplasmatic inclusion bodies
10	HP:0003552	Muscle stiffness
11	HP:0003326	Myalgia
12	HP:0003715	Myofibrillar myopathy
13	HP:0001271	Polyneuropathy
14	HP:0009063	Progressive distal muscle weakness
15	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
16	HP:0003677	Slow progression

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006790.3(MYOT):c.-286C>G	9499	MYOT	Uncertain significance	rs1281967239	RCV001151411\|RCV001151412;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137203568	137203568	5:g.137203568C>G	-
NM_006790.3(MYOT):c.-251A>G	9499	MYOT	Benign/Likely benign	rs6863775	RCV000269425\|RCV000327000\|RCV000383989\|RCV001643065;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN517202	5	137203603	137203603	NC_000005.9:g.137203603A>G	ClinGen:CA10619097	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.-233C>A	9499	MYOT	Benign/Likely benign	rs186433387	RCV000273190\|RCV000330569\|RCV000387511\|RCV001154434;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN239446\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137203621	137203621	NC_000005.9:g.137203621C>A	ClinGen:CA10619098	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1A>T (p.Met1Leu)	9499	MYOT	Uncertain significance	rs1561657261	RCV000704688;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206341	137206341	5:g.137206341A>T	-	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)	9499	MYOT	Uncertain significance	-1	RCV002952832;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206356	137206356	NC_000005.9:g.137206356C>T	-
NM_006790.3(MYOT):c.17G>A (p.Arg6His)	9499	MYOT	Conflicting interpretations of pathogenicity	rs387906882	RCV000023360\|RCV001588824;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206357	137206357	5:g.137206357G>A	ClinGen:CA259801,OMIM:604103.0007	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.48A>C (p.Pro16=)	9499	MYOT	Likely benign	-1	RCV002171725;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206388	137206388	137206388	-
NM_006790.3(MYOT):c.49T>C (p.Cys17Arg)	9499	MYOT	Likely benign	rs202005786	RCV000537434;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206389	137206389	NC_000005.9:g.137206389T>C	ClinGen:CA3422837	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)	9499	MYOT	Uncertain significance	-1	RCV003021413;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206389	137206389	NC_000005.9:g.137206389T>A	-
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)	9499	MYOT	Uncertain significance	-1	RCV001911119;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206390	137206390	137206390	-
NM_006790.3(MYOT):c.53G>T (p.Gly18Val)	9499	MYOT	Uncertain significance	-1	RCV003019865;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206393	137206393	NC_000005.9:g.137206393G>T	-
NM_006790.3(MYOT):c.61T>C (p.Leu21=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs150786535	RCV000294470\|RCV001495333;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206401	137206401	5:g.137206401T>C	ClinGen:CA3422839	CN169374 not specified;
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser)	9499	MYOT	Uncertain significance	rs751876756	RCV000794579\|RCV000731979;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206407	137206407	NC_000005.9:g.137206407C>T	-
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)	9499	MYOT	Uncertain significance	rs751876756	RCV001326319;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206407	137206407	137206407	-
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile)	9499	MYOT	Uncertain significance	rs767662244	RCV000814347;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206423	137206423	5:g.137206423C>T	-
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe)	9499	MYOT	Uncertain significance	rs1580847200	RCV000814346;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206426	137206426	5:g.137206426C>T	-
NM_006790.3(MYOT):c.96T>C (p.Ser32=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs545828785	RCV000287209\|RCV002518105;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206436	137206436	5:g.137206436T>C	ClinGen:CA3422847	CN169374 not specified;
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile)	9499	MYOT	Uncertain significance	rs1554102559	RCV000526830;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206438	137206438	NC_000005.9:g.137206438G>T	ClinGen:CA361477946	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.107_110del (p.Lys36fs)	9499	MYOT	Uncertain significance	rs398124238	RCV000389897\|RCV002513830;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206445	137206448	5:g.137206445_137206448del	ClinGen:CA222974	C1834659 159000 Limb-girdle muscular dystrophy, type 1A;
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)	9499	MYOT	Pathogenic/Likely pathogenic	rs121908461	RCV000006196\|RCV000516381\|RCV002512824;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206456	137206456	5:g.137206456C>T	ClinGen:CA117796,OMIM:604103.0006	CN517202 not provided;
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)	9499	MYOT	Uncertain significance	-1	RCV003069008;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206458	137206458	NC_000005.9:g.137206458A>G	-
NM_006790.3(MYOT):c.120T>A (p.Ile40=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs139254363	RCV000723630\|RCV001089171\|RCV001154435;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137206460	137206460	5:g.137206460T>A	ClinGen:CA222975	CN169374 not specified;
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)	9499	MYOT	Uncertain significance	rs587780396	RCV000117696\|RCV001854569;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206462	137206462	NC_000005.9:g.137206462T>C	ClinGen:CA231298	CN517202 not provided;
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu)	9499	MYOT	Uncertain significance	-1	RCV001911122;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206474	137206474	137206474	-
NM_006790.3(MYOT):c.134G>A (p.Arg45His)	9499	MYOT	Uncertain significance	-1	RCV002781568;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206474	137206474	NC_000005.9:g.137206474G>A	-
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)	9499	MYOT	Uncertain significance	-1	RCV001366199;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206477	137206477	137206477	-
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)	9499	MYOT	Uncertain significance	-1	RCV002658666;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206477	137206477	NC_000005.9:g.137206477A>G	-
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln)	9499	MYOT	Uncertain significance	rs199760778	RCV000692676;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206485	137206485	5:g.137206485G>C	-	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)	9499	MYOT	Uncertain significance	rs1309789504	RCV001057709;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206487	137206487	5:g.137206487G>C	-
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)	9499	MYOT	Benign/Likely benign	rs34717730	RCV000117697\|RCV000309620\|RCV000345696\|RCV000576436\|RCV001795171;	N	MedGen:CN169374\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206489	137206489	5:g.137206489A>G	ClinGen:CA153837	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)	9499	MYOT	Uncertain significance	-1	RCV001365162\|RCV003130503;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206491	137206491	137206491	-
NM_006790.3(MYOT):c.156T>C (p.Phe52_Ser53=)	9499	MYOT	Likely benign	-1	RCV003018469;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206496	137206496	NC_000005.9:g.137206496T>C	-
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)	9499	MYOT	Pathogenic	rs28937597	RCV000424803\|RCV000639976;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206510	137206510	5:g.137206510C>T	ClinGen:CA340465,OMIM:604103.0001	C1834659 159000 Limb-girdle muscular dystrophy, type 1A;
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)	9499	MYOT	Pathogenic	rs121908458	RCV000006193\|RCV000239643\|RCV000725007\|RCV002504754;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|Human Phenotype Ontology:HP:0003715,MONDO:MONDO:0018943,MedGen:C2678065,OMIM:PS601419, Orphanet:593\|MedGen:CN517202\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129; MONDO:MONDO:0	5	137206519	137206519	5:g.137206519C>G	ClinGen:CA253620,OMIM:604103.0003	C2678065 Myofibrillar myopathy;
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)	9499	MYOT	Pathogenic/Likely pathogenic	rs121908458	RCV000006194\|RCV000725464\|RCV002288468;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137206519	137206519	5:g.137206519C>T	ClinGen:CA253623,OMIM:604103.0004	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.182A>C (p.His61Pro)	9499	MYOT	Uncertain significance	rs372276337	RCV000822941\|RCV002473155;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206522	137206522	5:g.137206522A>C	-
NM_006790.3(MYOT):c.191T>A (p.Met64Lys)	9499	MYOT	Uncertain significance	rs763147610	RCV001155273\|RCV001155274;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137206531	137206531	5:g.137206531T>A	-
NM_006790.3(MYOT):c.220= (p.Gln74=)	9499	MYOT	Benign	rs6890689	RCV000153527\|RCV000987603\|RCV001636695;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206560	137206560	5:g.137206560A>C	ClinGen:CA180205	CN169374 not specified;
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)	9499	MYOT	Benign/Likely benign	rs6890689	RCV000712368\|RCV000615351\|RCV001079228;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206560	137206560	NC_000005.9:g.137206560%3D	ClinGen:CA128097466	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)	9499	MYOT	Uncertain significance	rs1755029530	RCV001222286\|RCV003132286;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206572	137206572	5:g.137206572G>A	-
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)	9499	MYOT	Uncertain significance	-1	RCV002765870;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206579	137206579	NC_000005.9:g.137206579A>G	-
NM_006790.3(MYOT):c.240C>T (p.Asn80=)	9499	MYOT	Benign	rs529067126	RCV000292433\|RCV000639978\|RCV001697633;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206580	137206580	5:g.137206580C>T	ClinGen:CA3422867	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.249A>G (p.Gln83=)	9499	MYOT	Likely benign	-1	RCV002102528;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206589	137206589	137206589	-
NM_006790.3(MYOT):c.252G>A (p.Arg84=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs886044687	RCV000317026\|RCV002519355;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206592	137206592	5:g.137206592G>A	ClinGen:CA10607060	CN169374 not specified;
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)	9499	MYOT	Uncertain significance	rs886044687	RCV001327186;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206592	137206592	137206592	-
NM_006790.3(MYOT):c.255T>C (p.Val85=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs368052792	RCV000732518\|RCV001497098;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206595	137206595	NC_000005.9:g.137206595T>C	-
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys)	9499	MYOT	Uncertain significance	rs1205992276	RCV000593051\|RCV000639973;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206597	137206597	5:g.137206597C>A	ClinGen:CA361053325	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile)	9499	MYOT	Pathogenic	rs121908460	RCV000006195;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206624	137206624	5:g.137206624G>T	ClinGen:CA253626,OMIM:604103.0005	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.298A>G (p.Ile100Val)	9499	MYOT	Uncertain significance	-1	RCV001882553\|RCV001508171;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137206638	137206638	137206638	-
NM_006790.3(MYOT):c.318T>C (p.Asp106=)	9499	MYOT	Likely benign	-1	RCV002099340;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206658	137206658	137206658	-
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)	9499	MYOT	Uncertain significance	-1	RCV003019612;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206658	137206658	NC_000005.9:g.137206658T>A	-
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)	9499	MYOT	Conflicting interpretations of pathogenicity	rs142416150	RCV000265859\|RCV000306075\|RCV000360760\|RCV000381509\|RCV000852990\|RCV001085861\|RCV002519080;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239446\|MedGen:CN239426\|MedGen:CN517202\|MONDO:MONDO:0005252,MedGen:C0018801\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MeSH:D030342,MedGen:C0950123	5	137206663	137206663	5:g.137206663A>C	ClinGen:CA3422882	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)	9499	MYOT	Uncertain significance	rs752723849	RCV000262153\|RCV000302323\|RCV000357201\|RCV001246839;	N	MedGen:CN239426\|MedGen:CN239446\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206675	137206675	NC_000005.9:g.137206675T>A	ClinGen:CA3422883	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.342C>T (p.Ser114=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs34593399	RCV000353610\|RCV001087278;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206682	137206682	5:g.137206682C>T	ClinGen:CA3422884	CN169374 not specified;
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)	9499	MYOT	Benign/Likely benign	rs114194130	RCV000081464\|RCV000757546\|RCV001086003\|RCV001151519;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137206683	137206683	5:g.137206683G>A	ClinGen:CA148537	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)	9499	MYOT	Conflicting interpretations of pathogenicity	rs114194130	RCV000277606\|RCV000317621\|RCV000372249\|RCV000598161\|RCV000875382\|RCV003133241\|RCV002523506;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN239446\|MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	137206683	137206683	NC_000005.9:g.137206683G>T	ClinGen:CA3422885	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.348G>A (p.Met116Ile)	9499	MYOT	Uncertain significance	rs1295803826	RCV001151520\|RCV001151521;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137206688	137206688	5:g.137206688G>A	-
NM_006790.3(MYOT):c.356+13T>G	9499	MYOT	Uncertain significance	rs1461754985	RCV001151522\|RCV001154530;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137206709	137206709	5:g.137206709T>G	-
NM_006790.3(MYOT):c.357-19T>C	9499	MYOT	Likely benign	-1	RCV002675521;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211499	137211499	NC_000005.9:g.137211499T>C	-
NM_006790.3(MYOT):c.357-15T>A	9499	MYOT	Likely benign	-1	RCV002141849;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211503	137211503	137211503	-
NM_006790.3(MYOT):c.359A>G (p.Tyr120Cys)	9499	MYOT	Likely benign	rs141710153	RCV000639975;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211520	137211520	NC_000005.9:g.137211520A>G	ClinGen:CA3422903	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)	9499	MYOT	Uncertain significance	-1	RCV003071890;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211525	137211525	NC_000005.9:g.137211525C>T	-
NM_006790.3(MYOT):c.372del (p.Ala125fs)	9499	MYOT	Uncertain significance	rs781353247	RCV000543818\|RCV003133313;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137211533	137211533	NC_000005.9:g.137211533del	ClinGen:CA3422906	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.385A>G (p.Ile129Val)	9499	MYOT	Uncertain significance	rs1191595067	RCV001298216;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211546	137211546	137211546	-
NM_006790.3(MYOT):c.387A>G (p.Ile129Met)	9499	MYOT	Uncertain significance	rs1554102960	RCV000560480;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211548	137211548	NC_000005.9:g.137211548A>G	ClinGen:CA361053974	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser)	9499	MYOT	Uncertain significance	rs1554102961	RCV000536530;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211552	137211552	NC_000005.9:g.137211552G>T	ClinGen:CA361053985	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)	9499	MYOT	Uncertain significance	rs982468554	RCV000812064\|RCV002537365;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MeSH:D030342,MedGen:C0950123	5	137211553	137211553	5:g.137211553C>A	-
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu)	9499	MYOT	Conflicting interpretations of pathogenicity	rs779568205	RCV000639971\|RCV000852991;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0005252,MedGen:C0018801	5	137211559	137211559	NC_000005.9:g.137211559C>T	ClinGen:CA3422909	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.414T>C (p.Asn138=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs747546314	RCV000597889\|RCV002065173;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211575	137211575	5:g.137211575T>C	ClinGen:CA3422913	CN169374 not specified;
NM_006790.3(MYOT):c.420G>A (p.Lys140=)	9499	MYOT	Likely benign	-1	RCV001483410;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211581	137211581	137211581	-
NM_006790.3(MYOT):c.424A>G (p.Ile142Val)	9499	MYOT	Uncertain significance	-1	RCV001947268\|RCV003136228;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137211585	137211585	137211585	-
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser)	9499	MYOT	Uncertain significance	rs1755197357	RCV001350680;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211597	137211597	137211597	-
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)	9499	MYOT	Benign/Likely benign	rs71578935	RCV000249839\|RCV000549314\|RCV000852992\|RCV001154531\|RCV001719841;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0005252,MedGen:C0018801\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN517202	5	137211606	137211606	5:g.137211606G>C	ClinGen:CA222978	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)	9499	MYOT	Uncertain significance	-1	RCV001364854;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211610	137211610	137211610	-
NM_006790.3(MYOT):c.459A>G (p.Ser153=)	9499	MYOT	Likely benign	-1	RCV002074629;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211620	137211620	137211620	-
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala)	9499	MYOT	Uncertain significance	rs148166751	RCV000735130\|RCV001855832;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211625	137211625	NC_000005.9:g.137211625A>C	-
NM_006790.3(MYOT):c.469T>C (p.Leu157_Ile158=)	9499	MYOT	Likely benign	-1	RCV003011620;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211630	137211630	NC_000005.9:g.137211630T>C	-
NM_006790.3(MYOT):c.471G>A (p.Leu157=)	9499	MYOT	Likely benign	rs762886873	RCV000557142\|RCV001447420;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211632	137211632	5:g.137211632G>A	ClinGen:CA3422918	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln)	9499	MYOT	Uncertain significance	rs1214787397	RCV001246223;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211651	137211651	5:g.137211651A>C	-
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)	9499	MYOT	Uncertain significance	rs997275341	RCV001325402\|RCV001508172;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137211672	137211672	137211672	-
NM_006790.3(MYOT):c.519T>C (p.His173=)	9499	MYOT	Likely benign	-1	RCV002128538;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211680	137211680	137211680	-
NM_006790.3(MYOT):c.522T>C (p.Asn174=)	9499	MYOT	Likely benign	-1	RCV002196173;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211683	137211683	137211683	-
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)	9499	MYOT	Uncertain significance	rs1304612966	RCV001233470;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211685	137211685	5:g.137211685G>A	-
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)	9499	MYOT	Uncertain significance	-1	RCV002895430;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137211685	137211685	NC_000005.9:g.137211685G>T	-
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)	9499	MYOT	Uncertain significance	-1	RCV001912676\|RCV002473319;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137211690	137211690	137211690	-
NM_006790.3(MYOT):c.532-12A>T	9499	MYOT	Likely benign	-1	RCV002180289;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213197	137213197	137213197	-
NM_006790.3(MYOT):c.532-5T>C	9499	MYOT	Likely benign	-1	RCV001427869;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213204	137213204	137213204	-
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)	9499	MYOT	Uncertain significance	-1	RCV002912521\|RCV002912522;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MeSH:D030342,MedGen:C0950123	5	137213209	137213209	NC_000005.9:g.137213209C>T	-
NM_006790.3(MYOT):c.533G>A (p.Arg178His)	9499	MYOT	Conflicting interpretations of pathogenicity	rs150293853	RCV000292440\|RCV000347504\|RCV000386833\|RCV000594719\|RCV000874867\|RCV001557068\|RCV002523507;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN239446\|MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	137213210	137213210	NC_000005.9:g.137213210G>A	ClinGen:CA3422946	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)	9499	MYOT	Uncertain significance	-1	RCV002577253;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213210	137213210	NC_000005.9:g.137213210G>T	-
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn)	9499	MYOT	Uncertain significance	-1	RCV001890651;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213229	137213229	137213229	-
NM_006790.3(MYOT):c.560G>A (p.Arg187His)	9499	MYOT	Uncertain significance	rs200273223	RCV001234974;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213237	137213237	5:g.137213237G>A	-
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile)	9499	MYOT	Uncertain significance	rs370165036	RCV000320489\|RCV000639974;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213240	137213240	5:g.137213240G>T	ClinGen:CA3422954	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)	9499	MYOT	Benign/Likely benign	rs199789331	RCV000241609\|RCV000639979;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213248	137213248	NC_000005.9:g.137213248G>C	ClinGen:CA3422956	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.593T>C (p.Val198Ala)	9499	MYOT	Uncertain significance	-1	RCV001883918;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213270	137213270	137213270	-
NM_006790.3(MYOT):c.594G>A (p.Val198=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs372287923	RCV000734882\|RCV001084419;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213271	137213271	NC_000005.9:g.137213271G>A	-
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)	9499	MYOT	Uncertain significance	rs1561660796	RCV001323207\|RCV003132415;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137213286	137213286	137213286	-
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)	9499	MYOT	Uncertain significance	-1	RCV002843281;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213291	137213291	NC_000005.9:g.137213291G>C	-
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)	9499	MYOT	Benign/Likely benign	rs151094883	RCV000081466\|RCV000289054\|RCV000344066\|RCV000383375\|RCV000639982\|RCV001704002;	N	MedGen:CN169374\|MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239446\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137213294	137213294	5:g.137213294G>A	ClinGen:CA222981	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.618T>C (p.Gly206=)	9499	MYOT	Likely benign	-1	RCV002206553;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137213295	137213295	137213295	-
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu)	9499	MYOT	Uncertain significance	rs756669574	RCV000734755\|RCV001046038\|RCV001155367;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137213306	137213306	NC_000005.9:g.137213306C>T	-
NM_006790.3(MYOT):c.630G>A (p.Ser210=)	9499	MYOT	Benign/Likely benign	rs375308029	RCV000247228\|RCV000872884\|RCV001582866;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137213307	137213307	NC_000005.9:g.137213307G>A	ClinGen:CA3422969	CN169374 not specified;
NC_000005.9:g.(?_137216485)_(137221922_?)del	9499	MYOT	Uncertain significance	-1	RCV001982223;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216485	137221922	-1	-
NM_006790.3(MYOT):c.634-15T>C	9499	MYOT	Benign	rs115598221	RCV000250367\|RCV002058215;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216490	137216490	5:g.137216490T>C	ClinGen:CA3422987	CN169374 not specified;
NM_006790.3(MYOT):c.634-14_634-10del	9499	MYOT	Conflicting interpretations of pathogenicity	rs747808820	RCV000294314\|RCV002059250;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216491	137216495	5:g.137216488_137216492del	ClinGen:CA3422985	CN169374 not specified;
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys)	9499	MYOT	Uncertain significance	rs957169726	RCV001320342;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216513	137216513	137216513	-
NM_006790.3(MYOT):c.642C>T (p.Asn214=)	9499	MYOT	Likely benign	-1	RCV001494190;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216513	137216513	137216513	-
NM_006790.3(MYOT):c.650A>G (p.His217Arg)	9499	MYOT	Uncertain significance	rs758565747	RCV000820634;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216521	137216521	5:g.137216521A>G	-
NM_006790.3(MYOT):c.651T>C (p.His217=)	9499	MYOT	Likely benign	-1	RCV002082582;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216522	137216522	137216522	-
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu)	9499	MYOT	Uncertain significance	rs533510304	RCV000687304;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216524	137216524	5:g.137216524C>A	-	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.654G>A (p.Ala218=)	9499	MYOT	Likely benign	rs142477496	RCV000875479\|RCV001471001;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216525	137216525	5:g.137216525G>A	-
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter)	9499	MYOT	Uncertain significance	rs781249546	RCV001317557;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216526	137216526	137216526	-
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln)	9499	MYOT	Uncertain significance	rs745792335	RCV000288296\|RCV001347445;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216527	137216527	5:g.137216527G>A	ClinGen:CA3422999	CN169374 not specified;
NM_006790.3(MYOT):c.660G>C (p.Leu220=)	9499	MYOT	Likely benign	-1	RCV001399622;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216531	137216531	137216531	-
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)	9499	MYOT	Uncertain significance	-1	RCV003040167;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216538	137216538	NC_000005.9:g.137216538C>T	-
NM_006790.3(MYOT):c.680_683del (p.Val227fs)	9499	MYOT	Uncertain significance	rs775014749	RCV001214063;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216548	137216551	5:g.137216548_137216551del	-
NM_006790.3(MYOT):c.683+1G>C	9499	MYOT	Uncertain significance	-1	RCV002021636;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216555	137216555	137216555	-
NM_006790.3(MYOT):c.683+8del	9499	MYOT	Conflicting interpretations of pathogenicity	rs760217241	RCV000594296\|RCV001080334;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216557	137216557	5:g.137216557_137216557del	ClinGen:CA3423006	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.683+8A>T	9499	MYOT	Likely benign	-1	RCV003070825;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216562	137216562	NC_000005.9:g.137216562A>T	-
NM_006790.3(MYOT):c.683+9T>A	9499	MYOT	Likely benign	-1	RCV002170696;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137216563	137216563	137216563	-
NM_006790.3(MYOT):c.683+10T>A	9499	MYOT	Conflicting interpretations of pathogenicity	rs1296659208	RCV001415768\|RCV000591750;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137216564	137216564	5:g.137216564T>A	ClinGen:CA658796647	CN169374 not specified;
NM_006790.3(MYOT):c.684-16C>T	9499	MYOT	Likely benign	-1	RCV002144589;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217646	137217646	137217646	-
NM_006790.3(MYOT):c.684-11T>C	9499	MYOT	Likely benign	-1	RCV002918880;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217651	137217651	NC_000005.9:g.137217651T>C	-
NM_006790.3(MYOT):c.684-7C>T	9499	MYOT	Likely benign	rs751768323	RCV000940767\|RCV001444928;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217655	137217655	5:g.137217655C>T	-
NC_000005.9:g.137217658_137217663del	9499	MYOT	Uncertain significance	-1	RCV002971438;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217658	137217663	NC_000005.9:g.137217663_137217668del	-
NM_006790.3(MYOT):c.684-3T>C	9499	MYOT	Uncertain significance	-1	RCV002801034;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217659	137217659	NC_000005.9:g.137217659T>C	-
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)	9499	MYOT	Uncertain significance	rs193920888	RCV001041615\|RCV003132155;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137217664	137217664	5:g.137217664G>A	-
NM_006790.3(MYOT):c.690A>G (p.Arg230_Ser231=)	9499	MYOT	Likely benign	-1	RCV002999314;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217668	137217668	NC_000005.9:g.137217668A>G	-
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)	9499	MYOT	Uncertain significance	-1	RCV002700923;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217669	137217669	NC_000005.9:g.137217669T>C	-
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)	9499	MYOT	Uncertain significance	rs1755447825	RCV001058463;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217679	137217679	5:g.137217679G>A	-
NM_006790.3(MYOT):c.709G>A (p.Val237Met)	9499	MYOT	Uncertain significance	-1	RCV003055506;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217687	137217687	NC_000005.9:g.137217687G>A	-
NM_006790.3(MYOT):c.714T>C (p.Asn238_Asp239=)	9499	MYOT	Likely benign	-1	RCV002781194;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217692	137217692	NC_000005.9:g.137217692T>C	-
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)	9499	MYOT	Uncertain significance	-1	RCV002303938;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217703	137217703	137217703	-
NM_006790.3(MYOT):c.744C>T (p.Tyr248=)	9499	MYOT	Likely benign	-1	RCV002097326;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217722	137217722	137217722	-
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys)	9499	MYOT	Uncertain significance	rs760118881	RCV001340589;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217729	137217729	137217729	-
NM_006790.3(MYOT):c.752G>A (p.Arg251His)	9499	MYOT	Uncertain significance	rs1477747475	RCV001341747\|RCV003136003;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137217730	137217730	137217730	-
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr)	9499	MYOT	Uncertain significance	rs201113539	RCV000497521\|RCV001217128;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217736	137217736	5:g.137217736T>C	ClinGen:CA3423033	CN169374 not specified;
NM_006790.3(MYOT):c.762A>C (p.Gln254His)	9499	MYOT	Uncertain significance	-1	RCV001968472;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217740	137217740	137217740	-
NM_006790.3(MYOT):c.780G>A (p.Ser260=)	9499	MYOT	Benign/Likely benign	rs116773838	RCV000117698\|RCV000303922\|RCV000340638\|RCV000576640\|RCV001811974;	N	MedGen:CN169374\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137217758	137217758	5:g.137217758G>A	ClinGen:CA153840	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)	9499	MYOT	Uncertain significance	rs764439615	RCV000732547\|RCV001373347;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217760	137217760	NC_000005.9:g.137217760T>C	-
NM_006790.3(MYOT):c.784G>C (p.Asp262His)	9499	MYOT	Uncertain significance	rs1271782226	RCV000794303;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217762	137217762	5:g.137217762G>C	-
NM_006790.3(MYOT):c.793A>C (p.Arg265=)	9499	MYOT	Likely benign	-1	RCV002147699;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217771	137217771	137217771	-
NM_006790.3(MYOT):c.808G>C (p.Asp270His)	9499	MYOT	Uncertain significance	rs1561663452	RCV000729505\|RCV002536430;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217786	137217786	NC_000005.9:g.137217786G>C	-
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)	9499	MYOT	Uncertain significance	-1	RCV002298119;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217793	137217793	137217793	-
NM_006790.3(MYOT):c.816+5G>T	9499	MYOT	Uncertain significance	rs750433300	RCV000639977;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217799	137217799	5:g.137217799G>T	ClinGen:CA3423039	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.816+16A>G	9499	MYOT	Likely benign	-1	RCV002899980;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217810	137217810	NC_000005.9:g.137217810A>G	-
NM_006790.3(MYOT):c.816+17A>G	9499	MYOT	Likely benign	-1	RCV002129331;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137217811	137217811	137217811	-
NM_006790.3(MYOT):c.817-11T>C	9499	MYOT	Conflicting interpretations of pathogenicity	rs377759571	RCV000300821\|RCV000355681\|RCV000407150\|RCV002520316;	N	MedGen:CN239446\|MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219062	137219062	NC_000005.9:g.137219062T>C	ClinGen:CA3423060	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.822T>C (p.Ser274=)	9499	MYOT	Benign/Likely benign	rs138678049	RCV000252494\|RCV000712369\|RCV001088508;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219078	137219078	NC_000005.9:g.137219078T>C	ClinGen:CA3423063	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)	9499	MYOT	Uncertain significance	rs374221793	RCV000998441\|RCV001315774;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219115	137219115	5:g.137219115G>A	-
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)	9499	MYOT	Uncertain significance	-1	RCV003090894\|RCV003134630;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137219122	137219122	NC_000005.9:g.137219122C>G	-
NM_006790.3(MYOT):c.870T>A (p.Val290=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs946857518	RCV000734799\|RCV001436389;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219126	137219126	NC_000005.9:g.137219126T>A	-
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)	9499	MYOT	Uncertain significance	-1	RCV003032520;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219140	137219140	NC_000005.9:g.137219140T>G	-
NM_006790.3(MYOT):c.888C>T (p.His296=)	9499	MYOT	Likely benign	rs565902195	RCV000951025\|RCV001455938;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219144	137219144	5:g.137219144C>T	-
NM_006790.3(MYOT):c.903T>C (p.Ser301=)	9499	MYOT	Likely benign	-1	RCV002080954;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219159	137219159	137219159	-
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)	9499	MYOT	Uncertain significance	-1	RCV002949010;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219191	137219191	NC_000005.9:g.137219191T>C	-
NM_006790.3(MYOT):c.937G>A (p.Val313Ile)	9499	MYOT	Uncertain significance	rs760955035	RCV000639972;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219193	137219193	NC_000005.9:g.137219193G>A	ClinGen:CA3423076	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr)	9499	MYOT	Likely benign	-1	RCV001394012;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219199	137219199	137219199	-
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu)	9499	MYOT	Uncertain significance	rs753927065	RCV001302639;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219207	137219207	137219207	-
NM_006790.3(MYOT):c.951T>C (p.Asp317=)	9499	MYOT	Likely benign	-1	RCV001506671;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219207	137219207	137219207	-
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala)	9499	MYOT	Uncertain significance	-1	RCV001898059;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219212	137219212	137219212	-
NM_006790.3(MYOT):c.959C>T (p.Ala320Val)	9499	MYOT	Uncertain significance	-1	RCV002050034;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219215	137219215	137219215	-
NM_006790.3(MYOT):c.966A>G (p.Ala322=)	9499	MYOT	Likely benign	rs765025826	RCV001044672;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219222	137219222	5:g.137219222A>G	-
NM_006790.3(MYOT):c.972T>A (p.Val324_Ala325=)	9499	MYOT	Likely benign	-1	RCV003014268;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219228	137219228	NC_000005.9:g.137219228T>A	-
NM_006790.3(MYOT):c.981T>C (p.Asn327=)	9499	MYOT	Benign/Likely benign	rs148479015	RCV000244276\|RCV000297152\|RCV000370633\|RCV000407175\|RCV000550832\|RCV001704856;	N	MedGen:CN169374\|MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239446\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137219237	137219237	5:g.137219237T>C	ClinGen:CA247257	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly)	9499	MYOT	Uncertain significance	-1	RCV001897013;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219238	137219238	137219238	-
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)	9499	MYOT	Uncertain significance	-1	RCV002640466;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219239	137219239	NC_000005.9:g.137219239G>A	-
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)	9499	MYOT	Uncertain significance	rs758194318	RCV000623121\|RCV001197618\|RCV001855311;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219254	137219254	5:g.137219254C>T	ClinGen:CA3423081	C0950123 Inborn genetic diseases;
NM_006790.3(MYOT):c.999C>A (p.Thr333=)	9499	MYOT	Likely benign	rs1320608556	RCV000639981;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219255	137219255	NC_000005.9:g.137219255C>A	ClinGen:CA446561207	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)	9499	MYOT	Uncertain significance	-1	RCV003014269;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219262	137219262	NC_000005.9:g.137219262G>C	-
NM_006790.3(MYOT):c.1008G>T (p.Val336=)	9499	MYOT	Benign/Likely benign	rs142828368	RCV000179926\|RCV000276096\|RCV000330327\|RCV000366367\|RCV000528295\|RCV001727618;	N	MedGen:CN169374\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN239446\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137219264	137219264	5:g.137219264G>T	ClinGen:CA203490	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)	9499	MYOT	Uncertain significance	-1	RCV001362246\|RCV003132466;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137219271	137219271	137219271	-
NM_006790.3(MYOT):c.1020C>T (p.Val340=)	9499	MYOT	Likely benign	-1	RCV001395214;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219276	137219276	137219276	-
NM_006790.3(MYOT):c.1024+5G>A	9499	MYOT	Uncertain significance	-1	RCV002730758;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137219285	137219285	NC_000005.9:g.137219285G>A	-
NM_006790.3(MYOT):c.1025-19T>A	9499	MYOT	Benign	-1	RCV002089065;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221718	137221718	137221718	-
NM_006790.3(MYOT):c.1025-5T>C	9499	MYOT	Likely benign	rs200696022	RCV000983412;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221732	137221732	5:g.137221732T>C	-
NM_006790.3(MYOT):c.1025-3T>C	9499	MYOT	Uncertain significance	rs1410370327	RCV001065260;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221734	137221734	5:g.137221734T>C	-
NM_006790.3(MYOT):c.1041A>G (p.Arg347_Ala348=)	9499	MYOT	Likely benign	-1	RCV002611825;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221753	137221753	NC_000005.9:g.137221753A>G	-
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln)	9499	MYOT	Uncertain significance	rs755615381	RCV001225761;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221796	137221796	5:g.137221796G>C	-
NM_006790.3(MYOT):c.1089A>C (p.Gly363=)	9499	MYOT	Likely benign	-1	RCV002110950;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221801	137221801	137221801	-
NM_006790.3(MYOT):c.1102C>T (p.Leu368=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs747319274	RCV000271359\|RCV001438813;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221814	137221814	5:g.137221814C>T	ClinGen:CA3423110	CN169374 not specified;
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)	9499	MYOT	Uncertain significance	-1	RCV003073911;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221825	137221825	NC_000005.9:g.137221825G>C	-
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)	9499	MYOT	Uncertain significance	-1	RCV003086592;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221830	137221830	NC_000005.9:g.137221830C>T	-
NM_006790.3(MYOT):c.1122del (p.Ile375fs)	9499	MYOT	Uncertain significance	rs1755594306	RCV001345288;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221834	137221834	137221833	-
NM_006790.3(MYOT):c.1128T>C (p.Pro376=)	9499	MYOT	Likely benign	-1	RCV001499879;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221840	137221840	137221840	-
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala)	9499	MYOT	Uncertain significance	-1	RCV001975465;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221844	137221844	137221844	-
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro)	9499	MYOT	Uncertain significance	rs902179316	RCV000805078;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221851	137221851	5:g.137221851T>C	-
NM_006790.3(MYOT):c.1152A>G (p.Arg384=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs199541037	RCV000180304\|RCV001449191;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221864	137221864	5:g.137221864A>G	ClinGen:CA247690	CN169374 not specified;
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)	9499	MYOT	Uncertain significance	rs373489115	RCV000813987\|RCV001572653\|RCV002538180;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	137221871	137221871	5:g.137221871G>A	-
NM_006790.3(MYOT):c.1167A>G (p.Val389_Gln390=)	9499	MYOT	Likely benign	-1	RCV002996232;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221879	137221879	NC_000005.9:g.137221879A>G	-
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)	9499	MYOT	Uncertain significance	-1	RCV002574230;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221880	137221880	NC_000005.9:g.137221880C>T	-
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)	9499	MYOT	Uncertain significance	-1	RCV003038759;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221887	137221887	NC_000005.9:g.137221887A>G	-
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)	9499	MYOT	Uncertain significance	rs761659382	RCV001045085;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221896	137221896	5:g.137221896G>A	-
NM_006790.3(MYOT):c.1190+7T>C	9499	MYOT	Benign/Likely benign	rs192405601	RCV000081462\|RCV000541018;	N	MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221909	137221909	5:g.137221909T>C	ClinGen:CA148536	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1190+12A>G	9499	MYOT	Benign/Likely benign	rs183456886	RCV000271634\|RCV000326650\|RCV000381507\|RCV001254012\|RCV000609892\|RCV002488773;	N	MedGen:CN239446\|MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN169374\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266; MONDO:MONDO:0008448	5	137221914	137221914	NC_000005.9:g.137221914A>G	ClinGen:CA3423120	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1190+18A>G	9499	MYOT	Likely benign	-1	RCV003015919;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137221920	137221920	NC_000005.9:g.137221920A>G	-
NM_006790.3(MYOT):c.1191-7A>C	9499	MYOT	Likely benign	-1	RCV002199058;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222546	137222546	137222546	-
NM_006790.3(MYOT):c.1191C>T (p.Ser397=)	9499	MYOT	Uncertain significance	-1	RCV002035520;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222553	137222553	137222553	-
NM_006790.3(MYOT):c.1194A>G (p.Leu398=)	9499	MYOT	Likely benign	-1	RCV001402521;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222556	137222556	137222556	-
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His)	9499	MYOT	Uncertain significance	rs147239483	RCV000814437;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222557	137222557	5:g.137222557T>C	-
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr)	9499	MYOT	Uncertain significance	-1	RCV002036193;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222563	137222563	137222563	-
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)	9499	MYOT	Conflicting interpretations of pathogenicity	rs78633961	RCV000287132\|RCV000323304\|RCV000378013\|RCV000723809\|RCV001437646;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239446\|MedGen:CN239426\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222565	137222565	5:g.137222565T>A	ClinGen:CA234299	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)	9499	MYOT	Uncertain significance	rs886059968	RCV000283661\|RCV000338648\|RCV000399662\|RCV001154653\|RCV002472993;	N	MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239446\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137222584	137222584	NC_000005.9:g.137222584T>C	ClinGen:CA10619102	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)	9499	MYOT	Uncertain significance	-1	RCV002815130;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222593	137222593	NC_000005.9:g.137222593A>C	-
NM_006790.3(MYOT):c.1236T>C (p.Asp412=)	9499	MYOT	Likely benign	-1	RCV001393270;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222598	137222598	137222598	-
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val)	9499	MYOT	Uncertain significance	-1	RCV001970583;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222615	137222615	137222615	-
NM_006790.3(MYOT):c.1266T>A (p.Thr422=)	9499	MYOT	Uncertain significance	rs760246681	RCV001228359;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222628	137222628	5:g.137222628T>A	-
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs140678912	RCV000363482\|RCV000725807\|RCV001088610;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222637	137222637	5:g.137222637A>G	ClinGen:CA3423140	CN169374 not specified;
NM_006790.3(MYOT):c.1275A>T (p.Ala425=)	9499	MYOT	Likely benign	rs140678912	RCV000639980;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222637	137222637	5:g.137222637A>T	ClinGen:CA3423141	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)	9499	MYOT	Conflicting interpretations of pathogenicity	rs144731446	RCV000280215\|RCV000295763\|RCV000335309\|RCV000402251\|RCV000639970\|RCV000765813;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN517202\|MedGen:CN239446\|MedGen:CN239426\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129; MONDO:MONDO:0012	5	137222648	137222648	5:g.137222648C>G	ClinGen:CA3423144	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1291G>A (p.Val431Met)	9499	MYOT	Uncertain significance	rs756306645	RCV001321357;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222653	137222653	137222653	-
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)	9499	MYOT	Uncertain significance	-1	RCV003079407\|RCV003134623;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137222656	137222656	NC_000005.9:g.137222656A>T	-
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg)	9499	MYOT	Uncertain significance	rs769872126	RCV000595613\|RCV001338667;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222662	137222662	5:g.137222662T>C	ClinGen:CA3423148	CN169374 not specified;
NM_006790.3(MYOT):c.1317C>T (p.Asp439=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs147891371	RCV000594706\|RCV001475961;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222679	137222679	5:g.137222679C>T	ClinGen:CA128108097	CN169374 not specified;
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)	9499	MYOT	Uncertain significance	-1	RCV002741693;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222680	137222680	NC_000005.9:g.137222680G>A	-
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)	9499	MYOT	Uncertain significance	-1	RCV002770371;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222684	137222684	NC_000005.9:g.137222684C>T	-
NM_006790.3(MYOT):c.1323G>A (p.Thr441_Ala442=)	9499	MYOT	Uncertain significance	-1	RCV002891172;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222685	137222685	NC_000005.9:g.137222685G>A	-
NM_006790.3(MYOT):c.1324+11C>G	9499	MYOT	Likely benign	-1	RCV002072707;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222697	137222697	137222697	-
NM_006790.3(MYOT):c.1324+12T>A	9499	MYOT	Likely benign	-1	RCV002086643;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222698	137222698	137222698	-
NM_006790.3(MYOT):c.1324+18C>T	9499	MYOT	Likely benign	-1	RCV002097392;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222704	137222704	137222704	-
NM_006790.3(MYOT):c.1325-4T>A	9499	MYOT	Benign	rs544136408	RCV000960718;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222898	137222898	5:g.137222898T>A	-
NM_006790.3(MYOT):c.1325-1G>A	9499	MYOT	Uncertain significance	-1	RCV003112628;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222901	137222901	NC_000005.9:g.137222901G>A	-
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys)	9499	MYOT	Uncertain significance	-1	RCV001957583;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222904	137222904	137222904	-
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)	9499	MYOT	Uncertain significance	-1	RCV002705571;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222904	137222904	NC_000005.9:g.137222904C>G	-
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)	9499	MYOT	Uncertain significance	-1	RCV002578842;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222905	137222905	NC_000005.9:g.137222905G>A	-
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs769506328	RCV000442443\|RCV000727303\|RCV001501830;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222912	137222912	5:g.137222912C>T	ClinGen:CA3423177	CN169374 not specified;
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala)	9499	MYOT	Uncertain significance	rs766650528	RCV000553497;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222922	137222922	NC_000005.9:g.137222922C>G	ClinGen:CA3423179	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1346del (p.Pro449fs)	9499	MYOT	Likely benign	rs780331457	RCV000981745\|RCV001484659;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222922	137222922	5:g.137222922_137222922del	-
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)	9499	MYOT	Conflicting interpretations of pathogenicity	rs141801816	RCV000707221\|RCV000992419\|RCV000852561;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848	5	137222941	137222941	5:g.137222941G>A	-	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro)	9499	MYOT	Uncertain significance	rs141801816	RCV000704667;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222941	137222941	NC_000005.9:g.137222941G>C	-	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)	9499	MYOT	Uncertain significance	-1	RCV002634043;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222943	137222943	NC_000005.9:g.137222943G>A	-
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln)	9499	MYOT	Uncertain significance	rs755203621	RCV001222456;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222947	137222947	5:g.137222947G>A	-
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)	9499	MYOT	Uncertain significance	-1	RCV002883017\|RCV003108189;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222955	137222955	NC_000005.9:g.137222955T>C	-
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser)	9499	MYOT	Uncertain significance	-1	RCV001899178;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222968	137222968	137222968	-
NM_006790.3(MYOT):c.1398T>G (p.Leu466=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs150033934	RCV000392345\|RCV001410801;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222975	137222975	5:g.137222975T>G	ClinGen:CA3423192	CN169374 not specified;
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs145427063	RCV000726159\|RCV001078699;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222978	137222978	5:g.137222978T>C	ClinGen:CA3423193	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)	9499	MYOT	Uncertain significance	rs145427063	RCV000313284\|RCV000367931\|RCV000391315\|RCV000487879\|RCV000529217\|RCV000765814\|RCV002523508;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN239446\|MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266; MONDO:MONDO:0008448	5	137222978	137222978	5:g.137222978T>A	ClinGen:CA3423194	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.1404G>C (p.Gly468=)	9499	MYOT	Likely benign	rs200075800	RCV000541666\|RCV001418317;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222981	137222981	5:g.137222981G>C	ClinGen:CA3423195	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala)	9499	MYOT	Uncertain significance	-1	RCV001897610\|RCV002553447;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MeSH:D030342,MedGen:C0950123	5	137222986	137222986	137222986	-
NM_006790.3(MYOT):c.1411T>C (p.Leu471=)	9499	MYOT	Conflicting interpretations of pathogenicity	rs886043262	RCV000366498\|RCV002059189;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222988	137222988	5:g.137222988T>C	ClinGen:CA10605305	CN169374 not specified;
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)	9499	MYOT	Uncertain significance	rs146426896	RCV000725246\|RCV000812032;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222990	137222990	5:g.137222990G>T	ClinGen:CA3423198	CN169374 not specified;
NM_006790.3(MYOT):c.1417dup (p.Val473fs)	9499	MYOT	Uncertain significance	-1	RCV003035859;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137222993	137222994	NC_000005.9:g.137222994dup	-
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)	9499	MYOT	Uncertain significance	rs748921791	RCV001050862\|RCV003132176;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137222995	137222995	5:g.137222995T>C	-
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)	9499	MYOT	Uncertain significance	-1	RCV003051812;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223014	137223016	NC_000005.9:g.137223016_137223018del	-
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)	9499	MYOT	Conflicting interpretations of pathogenicity	rs727504026	RCV000153529\|RCV001088448\|RCV002516082;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MeSH:D030342,MedGen:C0950123	5	137223016	137223016	5:g.137223016A>G	ClinGen:CA234302	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu)	9499	MYOT	Uncertain significance	rs766736443	RCV001348614;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223019	137223019	137223019	-
NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys)	9499	MYOT	Conflicting interpretations of pathogenicity	rs140755418	RCV000323775\|RCV001041699;	N	MedGen:CN517202\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223030	137223030	5:g.137223030C>T	ClinGen:CA3423205	CN169374 not specified;
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)	9499	MYOT	Uncertain significance	-1	RCV002301128;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223031	137223031	137223031	-
NM_006790.3(MYOT):c.1454G>A (p.Arg485His)	9499	MYOT	Uncertain significance	-1	RCV002629767;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223031	137223031	NC_000005.9:g.137223031G>A	-
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser)	9499	MYOT	Uncertain significance	rs372307298	RCV001315405;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223034	137223034	137223034	-
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)	9499	MYOT	Uncertain significance	rs375274205	RCV001063979;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223048	137223048	5:g.137223048G>A	-
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys)	9499	MYOT	Uncertain significance	-1	RCV001863805;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223055	137223055	137223055	-
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala)	9499	MYOT	Uncertain significance	-1	RCV001996592;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223058	137223058	137223058	-
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr)	9499	MYOT	Uncertain significance	rs779978043	RCV000554405;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223074	137223074	NC_000005.9:g.137223074A>T	ClinGen:CA3423214	C1836607 609200 Myotilinopathy;
NM_006790.3(MYOT):c.*50T>G	9499	MYOT	Uncertain significance	rs1755640829	RCV001155489\|RCV001155490;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223124	137223124	5:g.137223124T>G	-
NM_006790.3(MYOT):c.*98G>A	9499	MYOT	Benign	rs4288	RCV000270937\|RCV000310880\|RCV000365421\|RCV001718754;	N	MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137223172	137223172	NC_000005.9:g.137223172G>A	ClinGen:CA10622832	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.*188A>C	9499	MYOT	Uncertain significance	rs1561666869	RCV001155491\|RCV001157165;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137223262	137223262	5:g.137223262A>C	-
NM_006790.3(MYOT):c.*190C>G	9499	MYOT	Benign/Likely benign	rs74711051	RCV000282216\|RCV000322378\|RCV000376796\|RCV001718755;	N	MedGen:CN239426\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MedGen:CN517202	5	137223264	137223264	NC_000005.9:g.137223264C>G	ClinGen:CA10622738	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.*311A>T	9499	MYOT	Uncertain significance	rs966703412	RCV001157166\|RCV001157167;	N	MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266\|MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129	5	137223385	137223385	5:g.137223385A>T	-
NM_006790.3(MYOT):c.*372G>A	9499	MYOT	Uncertain significance	rs1029781405	RCV001157169\|RCV001157168;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223446	137223446	5:g.137223446G>A	-
NM_006790.3(MYOT):c.*404G>A	9499	MYOT	Benign/Likely benign	rs188240755	RCV001151707\|RCV001157170;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223478	137223478	5:g.137223478G>A	-
NM_006790.3(MYOT):c.*418T>C	9499	MYOT	Uncertain significance	rs778508971	RCV000278833\|RCV000318551\|RCV000373176\|RCV001151708;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239446\|MedGen:CN239426\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223492	137223492	NC_000005.9:g.137223492T>C	ClinGen:CA10620244	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;
NM_006790.3(MYOT):c.*463C>T	9499	MYOT	Benign/Likely benign	rs149535236	RCV000294118\|RCV000352566\|RCV000401293\|RCV001151709;	N	MONDO:MONDO:0008448,MedGen:C1866785,OMIM:182920, Orphanet:268129\|MedGen:CN239426\|MedGen:CN239446\|MONDO:MONDO:0012215,MedGen:C3714934,OMIM:609200, Orphanet:266	5	137223537	137223537	NC_000005.9:g.137223537C>T	ClinGen:CA10620248	CN239426 Limb-Girdle Muscular Dystrophy, Dominant;

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