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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: Contracture (D003286)
Parent Node: Myositis, Inclusion Body (D018979)
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..CANOMAD syndrome (C537980)
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156) L: 00050;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926) L: 00118;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479) L: 00534;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069) L: 00510;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070) L: 00535;
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583) L: 00042;
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6323

Name:

Inclusion Body Myopathy 3, Autosomal Dominant

Definition:

Alternative IDs:

OMIM:605637

ParentIDs:

MESH:D003286|MESH:D009886|MESH:D018979

TreeNumbers:

C05.550.323/C565311 |C05.651.197/C565311 |C05.651.594.600/C565311 |C10.292.562.750/C565311 |C10.597.622.447/C565311 |C10.668.491.562.500/C565311 |C11.590.472/C565311 |C23.888.592.636.447/C565311

Synonyms:

IBM3, FORMERLY |INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT, FORMERLY |MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA |Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles |MYPOP

Slim Mappings:

Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565311
MeSH: C565311
OMIM: 605637;
MSeqDR :
Genes: MYH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0002803	Congenital contracture
4	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal	HP:0040283
5	HP:0003324	Generalized muscle weakness
6	HP:0000218	High palate
7	HP:0100299	Muscle fiber inclusion bodies
8	HP:0002058	Myopathic facies
9	HP:0003198	Myopathy NAMDC: Myopathy
10	HP:0000467	Neck muscle weakness
11	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
12	HP:0000508	Ptosis NAMDC: Ptosis	HP:0040283
13	HP:0003691	Scapular winging	HP:0040283
14	HP:0002650	Scoliosis	HP:0040283
15	HP:0003828	Variable expressivity
16	HP:0002515	Waddling gait	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000017.11:g.(?_9794928)_(10547930_?)del	4620	MYH2	Pathogenic	-1	RCV001032635;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	9698245	10451247	-1	-
NC_000017.11:g.(?_10509485)_(10537835_?)del	4620	MYH2	Uncertain significance	-1	RCV000707952;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10412802	10441152		-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.*131T>C	4620	MYH2	Uncertain significance	1407636374	RCV001117081;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424466	10424466	17:g.10424466A>G	-
NM_017534.6(MYH2):c.*51C>A	4620	MYH2	Benign/Likely benign	2286357	RCV001117082\|RCV001585988;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10424546	10424546	17:g.10424546G>T	-
NC_000017.11:g.(?_10521270)_(10537845_?)del	4620	MYH2	Uncertain significance	-1	RCV001033467;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424587	10441162	-1	-
NC_000017.10:g.(?_10424587)_(10428392_?)del	4620	MYH2	Uncertain significance	-1	RCV001362952;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424587	10428392	-1	-
NC_000017.10:g.(?_10424597)_(10451237_?)del	4620	MYH2	Pathogenic	-1	RCV001958797;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424597	10451237	-1	-
NC_000017.10:g.(?_10424597)_(10433411_?)del	4620	MYH2	Uncertain significance	-1	RCV003119761;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424597	10433411		-
NC_000017.10:g.(?_10424597)_(10433077_?)del	4620	MYH2	Uncertain significance	-1	RCV003119762;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424597	10433077		-
NC_000017.10:g.(?_10424597)_(10431211_?)del	4620	MYH2	Uncertain significance	-1	RCV003119763;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424597	10431211		-
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)	4620	MYH2	Conflicting interpretations of pathogenicity	140527143	RCV000269672\|RCV001088365;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424603	10424603	17:g.10424603T>C	ClinGen:CA8390302	CN169374 not specified;
NM_017534.6(MYH2):c.5792G>A (p.Arg1931Gln)	4620	MYH2	Uncertain significance	763107075	RCV001933396;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424631	10424631	10424631	-
NM_017534.6(MYH2):c.5786A>G (p.Lys1929Arg)	4620	MYH2	Uncertain significance	1197611302	RCV001226894;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424637	10424637	17:g.10424637T>C	-
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln)	4620	MYH2	Benign/Likely benign	34161789	RCV000178445\|RCV000421447\|RCV001082289;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424643	10424643	17:g.10424643C>T	ClinGen:CA202886,UniProtKB:Q9UKX2#VAR_032633	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5779C>A (p.Arg1927=)	4620	MYH2	Likely benign	767382926	RCV002183057;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424644	10424644	10424644	-
NM_017534.6(MYH2):c.5777T>G (p.Leu1926Arg)	4620	MYH2	Uncertain significance	756130400	RCV002038303;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424646	10424646	10424646	-
NM_017534.6(MYH2):c.5772C>T (p.Asn1924=)	4620	MYH2	Likely benign	757669070	RCV001467342;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424651	10424651	10424651	-
NM_017534.6(MYH2):c.5765A>G (p.Gln1922Arg)	4620	MYH2	Uncertain significance	1350620712	RCV001045065;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424658	10424658	17:g.10424658T>C	-
NM_017534.6(MYH2):c.5755G>A (p.Ala1919Thr)	4620	MYH2	Uncertain significance	1464949119	RCV001362794;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424668	10424668	10424668	-
NM_017534.6(MYH2):c.5753T>C (p.Ile1918Thr)	4620	MYH2	Uncertain significance	-1	RCV002295907;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424670	10424670	10424670	-
NM_017534.6(MYH2):c.5748T>C (p.Ala1916=)	4620	MYH2	Likely benign	1028373681	RCV000532208;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424675	10424675	17:g.10424675A>G	ClinGen:CA287733308	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln)	4620	MYH2	Uncertain significance	201882457	RCV000801539\|RCV002521079\|RCV003418013;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	17	10424679	10424679	NC_000017.10:g.10424679C>T	ClinGen:CA8390316	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.5743C>T (p.Arg1915Trp)	4620	MYH2	Uncertain significance	745584391	RCV001046420;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424680	10424680	17:g.10424680G>A	-
NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys)	4620	MYH2	Uncertain significance	1350545511	RCV001954533\|RCV003236907;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10424686	10424686	10424686	-
NM_017534.6(MYH2):c.5736C>T (p.Ala1912=)	4620	MYH2	Likely benign	755267432	RCV001467544;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424687	10424687	10424687	-
NM_017534.6(MYH2):c.5708G>A (p.Arg1903His)	4620	MYH2	Uncertain significance	770302436	RCV002038407;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424715	10424715	10424715	-
NM_017534.6(MYH2):c.5707C>T (p.Arg1903Cys)	4620	MYH2	Uncertain significance	777766586	RCV002043672\|RCV002284509;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10424716	10424716	10424716	-
NM_017534.6(MYH2):c.5690C>G (p.Thr1897Ser)	4620	MYH2	Uncertain significance	1480289239	RCV001895089;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10424733	10424733	10424733	-
NM_017534.6(MYH2):c.5674-10T>C	4620	MYH2	Benign/Likely benign	16943488	RCV000553637\|RCV001567830;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10424759	10424759	17:g.10424759A>G	ClinGen:CA8390326	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5673+4_5673+7del	4620	MYH2	Uncertain significance	-1	RCV002642386;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426400	10426403	NC_000017.10:g.10426403_10426406del	-
NM_017534.6(MYH2):c.5673+5G>A	4620	MYH2	Uncertain significance	-1	RCV002837793;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426402	10426402	NC_000017.10:g.10426402C>T	-
NM_017534.6(MYH2):c.5673+3A>C	4620	MYH2	Uncertain significance	2142289859	RCV001898323;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426404	10426404	10426404	-
NM_017534.6(MYH2):c.5673+1G>C	4620	MYH2	Conflicting interpretations of pathogenicity	1400481053	RCV000787958\|RCV003336184;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|	17	10426406	10426406	17:g.10426406C>G	-
NM_017534.6(MYH2):c.5671G>T (p.Ala1891Ser)	4620	MYH2	Uncertain significance	-1	RCV002304406;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426409	10426409	10426409	-
NM_017534.6(MYH2):c.5664_5668dup (p.Glu1890fs)	4620	MYH2	Uncertain significance	-1	RCV003132740;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426411	10426412	NC_000017.10:g.10426412_10426416dup	-
NM_017534.6(MYH2):c.5667G>A (p.Glu1889=)	4620	MYH2	Likely benign	1335303103	RCV001504391;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426413	10426413	10426413	-
NM_017534.6(MYH2):c.5652_5656del (p.Tyr1884_Arg1886delinsTer)	4620	MYH2	Uncertain significance	-1	RCV003013209;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426424	10426428	NC_000017.10:g.10426425_10426429del	-
NM_017534.6(MYH2):c.5652T>C (p.Tyr1884=)	4620	MYH2	Likely benign	2142289887	RCV001423568;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426428	10426428	10426428	-
NM_017534.6(MYH2):c.5651A>C (p.Tyr1884Ser)	4620	MYH2	Likely pathogenic	-1	RCV003314506;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426429	10426429		-
NM_017534.6(MYH2):c.5647T>G (p.Ser1883Ala)	4620	MYH2	Uncertain significance	746016363	RCV000686971;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426433	10426433	NC_000017.10:g.10426433A>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5647T>C (p.Ser1883Pro)	4620	MYH2	Uncertain significance	746016363	RCV001872923;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426433	10426433	10426433	-
NM_017534.6(MYH2):c.5641G>A (p.Val1881Met)	4620	MYH2	Uncertain significance	775106499	RCV001055807\|RCV002264168\|RCV003413870;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|	17	10426439	10426439	17:g.10426439C>T	-
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)	4620	MYH2	Pathogenic/Likely pathogenic	2142289928	RCV001733833;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426450	10426450	10426450	-
NM_017534.6(MYH2):c.5616T>C (p.Asp1872=)	4620	MYH2	Uncertain significance	2073304426	RCV001117083;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426464	10426464	17:g.10426464A>G	-
NM_017534.6(MYH2):c.5609T>C (p.Leu1870Pro)	4620	MYH2	Pathogenic	786201023	RCV000162317;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426471	10426471	NC_000017.10:g.10426471A>G	ClinGen:CA186118,OMIM:160740.0002	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5607G>C (p.Arg1869Ser)	4620	MYH2	Uncertain significance	370387304	RCV001881088;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426473	10426473	10426473	-
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs)	4620	MYH2	Pathogenic/Likely pathogenic	1567726515	RCV001051710\|RCV001545332;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10426483	10426486	17:g.10426483_10426486del	-
NM_017534.6(MYH2):c.5595G>A (p.Lys1865=)	4620	MYH2	Likely benign	1173455486	RCV001486469;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426485	10426485	10426485	-
NM_017534.6(MYH2):c.5589T>C (p.Asp1863=)	4620	MYH2	Likely benign	-1	RCV003068044;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426491	10426491		-
NM_017534.6(MYH2):c.5580G>A (p.Thr1860=)	4620	MYH2	Uncertain significance	761795343	RCV000591800\|RCV001044584;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426500	10426500	17:g.10426500C>T	ClinGen:CA8390352	CN169374 not specified;
NM_017534.6(MYH2):c.5579C>G (p.Thr1860Arg)	4620	MYH2	Uncertain significance	148724880	RCV000538870;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426501	10426501	17:g.10426501G>C	ClinGen:CA398114418	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)	4620	MYH2	Uncertain significance	-1	RCV002899830\|RCV002899829;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426501	10426501	NC_000017.10:g.10426501G>A	-
NM_017534.6(MYH2):c.5578-19A>G	4620	MYH2	Likely benign	2073305593	RCV002178823;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426521	10426521	10426521	-
NM_017534.6(MYH2):c.5577+12A>G	4620	MYH2	Likely benign	368119845	RCV002216873;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426613	10426613	10426613	-
NM_017534.6(MYH2):c.5577+9A>G	4620	MYH2	Likely benign	-1	RCV002770908;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426616	10426616	NC_000017.10:g.10426616T>C	-
NM_017534.6(MYH2):c.5577+7C>A	4620	MYH2	Likely benign	370883162	RCV001466740;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426618	10426618	10426618	-
NM_017534.6(MYH2):c.5577+5A>G	4620	MYH2	Uncertain significance	-1	RCV002712158;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426620	10426620	NC_000017.10:g.10426620T>C	-
NM_017534.6(MYH2):c.5566C>T (p.Leu1856Phe)	4620	MYH2	Uncertain significance	1488236141	RCV000692824\|RCV003128688;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10426636	10426636	NC_000017.10:g.10426636G>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5566C>G (p.Leu1856Val)	4620	MYH2	Uncertain significance	-1	RCV002579361;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426636	10426636	NC_000017.10:g.10426636G>C	-
NM_017534.6(MYH2):c.5564A>G (p.Glu1855Gly)	4620	MYH2	Uncertain significance	200726747	RCV000532967;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426638	10426638	17:g.10426638T>C	ClinGen:CA287734691	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5555G>T (p.Arg1852Leu)	4620	MYH2	Uncertain significance	769778269	RCV001061941;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426647	10426647	17:g.10426647C>A	-
NM_017534.6(MYH2):c.5555G>A (p.Arg1852Gln)	4620	MYH2	Uncertain significance	-1	RCV003132747;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426647	10426647	NC_000017.10:g.10426647C>T	-
NM_017534.6(MYH2):c.5554C>T (p.Arg1852Ter)	4620	MYH2	Pathogenic	-1	RCV003118810;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426648	10426648	NC_000017.10:g.10426648G>A	-
NM_017534.6(MYH2):c.5545C>T (p.His1849Tyr)	4620	MYH2	Uncertain significance	1555569647	RCV000554670;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426657	10426657	17:g.10426657G>A	ClinGen:CA398114891	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5540G>A (p.Arg1847His)	4620	MYH2	Uncertain significance	748605415	RCV000819491;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426662	10426662	17:g.10426662C>T	-
NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys)	4620	MYH2	Uncertain significance	774045866	RCV001987838\|RCV002563472;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426663	10426663	10426663	-
NM_017534.6(MYH2):c.5525C>A (p.Ala1842Asp)	4620	MYH2	Uncertain significance	-1	RCV002795075;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426677	10426677	NC_000017.10:g.10426677G>T	-
NM_017534.6(MYH2):c.5518G>A (p.Ala1840Thr)	4620	MYH2	Uncertain significance	2073307748	RCV001325254;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426684	10426684	10426684	-
NM_017534.6(MYH2):c.5513G>A (p.Arg1838His)	4620	MYH2	Uncertain significance	-1	RCV003131637;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426689	10426689	NC_000017.10:g.10426689C>T	-
NM_017534.6(MYH2):c.5512C>T (p.Arg1838Cys)	4620	MYH2	Uncertain significance	368695212	RCV001917764;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426690	10426690	10426690	-
NM_017534.6(MYH2):c.5494G>A (p.Val1832Ile)	4620	MYH2	Uncertain significance	1462537897	RCV000539643;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426708	10426708	17:g.10426708C>T	ClinGen:CA398115339	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5477G>A (p.Arg1826Gln)	4620	MYH2	Uncertain significance	766875105	RCV000800028;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426725	10426725	17:g.10426725C>T	-
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp)	4620	MYH2	Uncertain significance	755265718	RCV001771036\|RCV002538803\|RCV002544016;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426726	10426726	10426726	-
NM_017534.6(MYH2):c.5473-2A>C	4620	MYH2	Likely pathogenic	2142290339	RCV001978587;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426731	10426731	10426731	-
NM_017534.6(MYH2):c.5473-6T>C	4620	MYH2	Likely benign	781072001	RCV001411118;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426735	10426735	10426735	-
NM_017534.6(MYH2):c.5472+5G>A	4620	MYH2	Uncertain significance	765560187	RCV001908629;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426808	10426808	10426808	-
NM_017534.6(MYH2):c.5472+3G>T	4620	MYH2	Uncertain significance	200691436	RCV000810756;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426810	10426810	17:g.10426810C>A	-
NM_017534.6(MYH2):c.5472+1G>A	4620	MYH2	Conflicting interpretations of pathogenicity	758888662	RCV000487929\|RCV001215018;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426812	10426812	17:g.10426812C>T	ClinGen:CA8390397	CN517202 not provided;
NM_017534.6(MYH2):c.5466G>T (p.Glu1822Asp)	4620	MYH2	Uncertain significance	-1	RCV002974794;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426819	10426819	NC_000017.10:g.10426819C>A	-
NM_017534.6(MYH2):c.5462T>C (p.Leu1821Pro)	4620	MYH2	Uncertain significance	2073310003	RCV001212689;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426823	10426823	17:g.10426823A>G	-
NM_017534.6(MYH2):c.5415G>A (p.Glu1805=)	4620	MYH2	Likely benign	755909213	RCV002094071;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426870	10426870	10426870	-
NM_017534.6(MYH2):c.5414A>C (p.Glu1805Ala)	4620	MYH2	Uncertain significance	-1	RCV002825034;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426871	10426871	NC_000017.10:g.10426871T>G	-
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His)	4620	MYH2	Uncertain significance	777282924	RCV001351119\|RCV003263995;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426880	10426880	10426880	-
NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys)	4620	MYH2	Uncertain significance	746710734	RCV000811525\|RCV002538101;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426881	10426881	17:g.10426881G>A	-
NM_017534.6(MYH2):c.5371_5391del (p.Asn1791_Lys1797del)	4620	MYH2	Uncertain significance	2142290581	RCV001368391;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426894	10426914	10426893	-
NM_017534.6(MYH2):c.5386G>A (p.Val1796Met)	4620	MYH2	Uncertain significance	778350338	RCV002022936;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426899	10426899	10426899	-
NM_017534.6(MYH2):c.5385C>T (p.Thr1795=)	4620	MYH2	Likely benign	-1	RCV002632401;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426900	10426900		-
NM_017534.6(MYH2):c.5382G>C (p.Gln1794His)	4620	MYH2	Uncertain significance	1567726803	RCV000690471;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426903	10426903	NC_000017.10:g.10426903C>G	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala)	4620	MYH2	Uncertain significance	912089271	RCV000792572\|RCV003279063;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426907	10426907	17:g.10426907T>G	-
NM_017534.6(MYH2):c.5374A>G (p.Met1792Val)	4620	MYH2	Uncertain significance	-1	RCV002610268;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426911	10426911	NC_000017.10:g.10426911T>C	-
NM_017534.6(MYH2):c.5363T>C (p.Met1788Thr)	4620	MYH2	Uncertain significance	-1	RCV002756715;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426922	10426922	NC_000017.10:g.10426922A>G	-
NM_017534.6(MYH2):c.5362A>G (p.Met1788Val)	4620	MYH2	Uncertain significance	572874607	RCV001207983;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426923	10426923	17:g.10426923T>C	-
NM_017534.6(MYH2):c.5360G>A (p.Arg1787Gln)	4620	MYH2	Uncertain significance	770182875	RCV001062956;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426925	10426925	17:g.10426925C>T	-
NM_017534.6(MYH2):c.5359C>T (p.Arg1787Trp)	4620	MYH2	Uncertain significance	-1	RCV002770811;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426926	10426926	NC_000017.10:g.10426926G>A	-
NM_017534.6(MYH2):c.5355G>T (p.Leu1785=)	4620	MYH2	Conflicting interpretations of pathogenicity	113280351	RCV001423782;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426930	10426930	10426930	-
NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr)	4620	MYH2	Uncertain significance	759668950	RCV000813913\|RCV002538179;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10426938	10426938	17:g.10426938C>T	-
NM_017534.6(MYH2):c.5346C>T (p.Ser1782=)	4620	MYH2	Likely benign	199864744	RCV001422844;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426939	10426939	10426939	-
NM_017534.6(MYH2):c.5345G>A (p.Ser1782Asn)	4620	MYH2	Uncertain significance	1178820376	RCV001997365;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426940	10426940	10426940	-
NM_017534.6(MYH2):c.5323C>G (p.Leu1775Val)	4620	MYH2	Uncertain significance	753602134	RCV001225667;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426962	10426962	17:g.10426962G>C	-
NM_017534.6(MYH2):c.5311A>G (p.Met1771Val)	4620	MYH2	Uncertain significance	2073312358	RCV001207727;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426974	10426974	17:g.10426974T>C	-
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr)	4620	MYH2	Uncertain significance	550869991	RCV000804947;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426980	10426980	17:g.10426980C>T	-
NM_017534.6(MYH2):c.5304C>T (p.Ala1768=)	4620	MYH2	Likely benign	562803081	RCV002119231;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426981	10426981	10426981	-
NM_017534.6(MYH2):c.5303C>G (p.Ala1768Gly)	4620	MYH2	Uncertain significance	151021565	RCV001213022;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426982	10426982	17:g.10426982G>C	-
NM_017534.6(MYH2):c.5302-5T>C	4620	MYH2	Likely benign	-1	RCV002932930;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426988	10426988	NC_000017.10:g.10426988A>G	-
NM_017534.6(MYH2):c.5302-9G>T	4620	MYH2	Likely benign	-1	RCV002867869;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426992	10426992	NC_000017.10:g.10426992C>A	-
NM_017534.6(MYH2):c.5302-10del	4620	MYH2	Likely benign	2073312748	RCV002037249;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10426993	10426993	10426992	-
NM_017534.6(MYH2):c.5301T>C (p.Asp1767=)	4620	MYH2	Uncertain significance	2073313827	RCV001308678;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427076	10427076	10427076	-
NM_017534.6(MYH2):c.5294T>A (p.Ile1765Asn)	4620	MYH2	Uncertain significance	139621607	RCV000364965\|RCV001118715;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427083	10427083	17:g.10427083A>T	ClinGen:CA8390441	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.5284AAG[1] (p.Lys1763del)	4620	MYH2	Uncertain significance	-1	RCV002928631;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427088	10427090	NC_000017.10:g.10427088CTT[1]	-
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)	4620	MYH2	Uncertain significance	377385495	RCV000190806\|RCV001063387\|RCV003233494;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10427095	10427095	17:g.10427095G>A	ClinGen:CA204894	C0950123 Inborn genetic diseases;
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His)	4620	MYH2	Uncertain significance	144414607	RCV001296223;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427113	10427113	10427113	-
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys)	4620	MYH2	Uncertain significance	202006788	RCV000498182\|RCV001248535\|RCV002524103;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10427114	10427114	17:g.10427114G>A	ClinGen:CA8390447	CN169374 not specified;
NM_017534.6(MYH2):c.5261C>T (p.Ala1754Val)	4620	MYH2	Uncertain significance	747877150	RCV001879165;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427116	10427116	10427116	-
NM_017534.6(MYH2):c.5260G>T (p.Ala1754Ser)	4620	MYH2	Uncertain significance	2073314725	RCV001913971;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427117	10427117	10427117	-
NM_017534.6(MYH2):c.5250T>C (p.Ile1750=)	4620	MYH2	Likely benign	1062504	RCV001464245;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427127	10427127	10427127	-
NM_017534.6(MYH2):c.5238G>C (p.Glu1746Asp)	4620	MYH2	Uncertain significance	-1	RCV003071395;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427139	10427139	NC_000017.10:g.10427139C>G	-
NM_017534.6(MYH2):c.5235A>G (p.Gly1745=)	4620	MYH2	Likely benign	746307508	RCV001402632;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427142	10427142	10427142	-
NM_017534.6(MYH2):c.5231A>G (p.Gln1744Arg)	4620	MYH2	Uncertain significance	1050104425	RCV001362970;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427146	10427146	10427146	-
NM_017534.6(MYH2):c.5210A>C (p.Glu1737Ala)	4620	MYH2	Uncertain significance	760648896	RCV001957512;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427167	10427167	10427167	-
NM_017534.6(MYH2):c.5192A>G (p.Asn1731Ser)	4620	MYH2	Uncertain significance	776712165	RCV001253030;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427185	10427185	17:g.10427185T>C	-
NM_017534.6(MYH2):c.5183G>A (p.Ser1728Asn)	4620	MYH2	Uncertain significance	-1	RCV002295654;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427194	10427194	10427194	-
NM_017534.6(MYH2):c.5180C>T (p.Thr1727Ile)	4620	MYH2	Uncertain significance	750223323	RCV001300625;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427197	10427197	10427197	-
NM_017534.6(MYH2):c.5180C>G (p.Thr1727Ser)	4620	MYH2	Uncertain significance	750223323	RCV001877567;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427197	10427197	10427197	-
NM_017534.6(MYH2):c.5176-4A>G	4620	MYH2	Uncertain significance	879251009	RCV001054368;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427205	10427205	17:g.10427205T>C	-
NM_017534.6(MYH2):c.5176-10T>C	4620	MYH2	Uncertain significance	886052563	RCV000270392;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427211	10427211	17:g.10427211A>G	ClinGen:CA10648523	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.5176-12C>A	4620	MYH2	Uncertain significance	1270961978	RCV001118716;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427213	10427213	17:g.10427213G>T	-
NM_017534.6(MYH2):c.5173C>G (p.Gln1725Glu)	4620	MYH2	Uncertain significance	2073322886	RCV001915625;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427785	10427785	10427785	-
NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile)	4620	MYH2	Uncertain significance	202050465	RCV000701855\|RCV002536348;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10427787	10427787	NC_000017.10:g.10427787G>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.5171C>G (p.Thr1724Ser)	4620	MYH2	Uncertain significance	202050465	RCV001214523\|RCV003117849;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10427787	10427787	17:g.10427787G>C	-
NM_017534.6(MYH2):c.5155G>A (p.Val1719Ile)	4620	MYH2	Uncertain significance	-1	RCV002975769;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427803	10427803	NC_000017.10:g.10427803C>T	-
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His)	4620	MYH2	Uncertain significance	755776701	RCV001326862\|RCV003399111;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|	17	10427805	10427805	10427805	-
NM_017534.6(MYH2):c.5152C>A (p.Arg1718Ser)	4620	MYH2	Uncertain significance	1161860650	RCV002049994;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427806	10427806	10427806	-
NM_017534.6(MYH2):c.5152C>T (p.Arg1718Cys)	4620	MYH2	Uncertain significance	-1	RCV002643899;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427806	10427806	NC_000017.10:g.10427806G>A	-
NM_017534.6(MYH2):c.5149G>A (p.Glu1717Lys)	4620	MYH2	Uncertain significance	1479754797	RCV001256202;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427809	10427809	17:g.10427809C>T	-
NM_017534.6(MYH2):c.5136C>G (p.Leu1712=)	4620	MYH2	Likely benign	191349011	RCV001476393;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427822	10427822	10427822	-
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg)	4620	MYH2	Uncertain significance	2142291882	RCV001663612\|RCV002032652;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427829	10427829	10427829	-
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr)	4620	MYH2	Uncertain significance	147813930	RCV000513939\|RCV000764101;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427836	10427836	17:g.10427836C>T	ClinGen:CA8390487	CN517202 not provided;
NM_017534.6(MYH2):c.5121C>T (p.Ile1707=)	4620	MYH2	Likely benign	780525531	RCV001506841;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427837	10427837	10427837	-
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=)	4620	MYH2	Conflicting interpretations of pathogenicity	1042270	RCV001118717;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427843	10427843	17:g.10427843T>C	-
NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)	4620	MYH2	Uncertain significance	-1	RCV003072344;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427845	10427845	NC_000017.10:g.10427845T>C	-
NM_017534.6(MYH2):c.5105A>G (p.Glu1702Gly)	4620	MYH2	Uncertain significance	769912069	RCV002049186;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427853	10427853	10427853	-
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln)	4620	MYH2	Uncertain significance	1321342402	RCV001236058\|RCV002246227;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN169374	17	10427863	10427863	17:g.10427863C>G	-
NM_017534.6(MYH2):c.5094G>A (p.Leu1698=)	4620	MYH2	Likely benign	-1	RCV002856543;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427864	10427864		-
NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp)	4620	MYH2	Uncertain significance	1050339515	RCV001208292\|RCV002561676;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10427871	10427871	17:g.10427871G>T	-
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)	4620	MYH2	Uncertain significance	-1	RCV003132748;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427874	10427874	NC_000017.10:g.10427874C>T	-
NM_017534.6(MYH2):c.5082G>A (p.Leu1694=)	4620	MYH2	Likely benign	1462094022	RCV001200115\|RCV001461269;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427876	10427876	17:g.10427876C>T	-
NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)	4620	MYH2	Uncertain significance	-1	RCV003132753;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427884	10427884	NC_000017.10:g.10427884C>T	-
NM_017534.6(MYH2):c.5072T>C (p.Ile1691Thr)	4620	MYH2	Uncertain significance	2073324867	RCV001308148;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427886	10427886	10427886	-
NM_017534.6(MYH2):c.5070G>A (p.Glu1690=)	4620	MYH2	Likely benign	546668018	RCV001397095;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427888	10427888	10427888	-
NM_017534.6(MYH2):c.5053A>G (p.Asn1685Asp)	4620	MYH2	Uncertain significance	-1	RCV002756522;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427905	10427905	NC_000017.10:g.10427905T>C	-
NM_017534.6(MYH2):c.5045G>A (p.Arg1682His)	4620	MYH2	Uncertain significance	145099248	RCV001240805\|RCV002511063\|RCV003166502;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	10427913	10427913	17:g.10427913C>T	-
NM_017534.6(MYH2):c.5044C>T (p.Arg1682Cys)	4620	MYH2	Uncertain significance	-1	RCV002601830;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427914	10427914	NC_000017.10:g.10427914G>A	-
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys)	4620	MYH2	Uncertain significance	144934663	RCV001370587\|RCV002469382;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN169374	17	10427917	10427917	10427917	-
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=)	4620	MYH2	Benign	1042236	RCV000252048\|RCV000306693\|RCV001683085;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10427924	10427924	17:g.10427924G>A	ClinGen:CA8390506	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.5031G>C (p.Leu1677=)	4620	MYH2	Likely benign	2142292077	RCV002117492;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427927	10427927	10427927	-
NM_017534.6(MYH2):c.5030T>G (p.Leu1677Arg)	4620	MYH2	Uncertain significance	2073325642	RCV001895777;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427928	10427928	10427928	-
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)	4620	MYH2	Uncertain significance	-1	RCV003132746;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427932	10427932	NC_000017.10:g.10427932G>C	-
NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp)	4620	MYH2	Uncertain significance	374743981	RCV000361428\|RCV001373376;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427933	10427933	17:g.10427933T>G	ClinGen:CA8390508	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn)	4620	MYH2	Uncertain significance	1204274669	RCV002001863;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427944	10427944	10427944	-
NM_017534.6(MYH2):c.5013G>A (p.Glu1671=)	4620	MYH2	Likely benign	748695702	RCV001414084;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427945	10427945	17:g.10427945C>T	-
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln)	4620	MYH2	Uncertain significance	143022667	RCV000596754\|RCV001223297;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427955	10427955	17:g.10427955C>T	ClinGen:CA8390510	CN169374 not specified;
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp)	4620	MYH2	Uncertain significance	569489518	RCV001065168;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427956	10427956	17:g.10427956G>A	-
NM_017534.6(MYH2):c.4997C>G (p.Ala1666Gly)	4620	MYH2	Uncertain significance	773964603	RCV000513554\|RCV001358868;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427961	10427961	17:g.10427961G>C	ClinGen:CA398120061	CN517202 not provided;
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=)	4620	MYH2	Benign/Likely benign	61736461	RCV000305396\|RCV000550905\|RCV001545367;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10427969	10427969	17:g.10427969C>T	ClinGen:CA8390515	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)	4620	MYH2	Uncertain significance	-1	RCV002912484;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427977	10427977	NC_000017.10:g.10427977T>G	-
NM_017534.6(MYH2):c.4973A>G (p.Asp1658Gly)	4620	MYH2	Uncertain significance	-1	RCV002302326;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427985	10427985	10427985	-
NM_017534.6(MYH2):c.4972-2A>T	4620	MYH2	Likely pathogenic	201790813	RCV001377134;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10427988	10427988	10427988	-
NM_017534.6(MYH2):c.4972-15T>C	4620	MYH2	Benign	566344021	RCV002129712;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428001	10428001	10428001	-
NM_017534.6(MYH2):c.4971+15G>C	4620	MYH2	Likely benign	779161804	RCV002105211;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428059	10428059	10428059	-
NM_017534.6(MYH2):c.4971+12C>T	4620	MYH2	Likely benign	-1	RCV002937478;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428062	10428062	NC_000017.10:g.10428062G>A	-
NM_017534.6(MYH2):c.4971+8T>C	4620	MYH2	Likely benign	199537007	RCV001980281;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428066	10428066	10428066	-
NM_017534.6(MYH2):c.4966C>T (p.Leu1656Phe)	4620	MYH2	Uncertain significance	369083161	RCV001052192;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428079	10428079	17:g.10428079G>A	-
NM_017534.6(MYH2):c.4961G>C (p.Gly1654Ala)	4620	MYH2	Uncertain significance	1126556	RCV001039047;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428084	10428084	17:g.10428084C>G	-
NM_017534.6(MYH2):c.4950G>A (p.Arg1650=)	4620	MYH2	Likely benign	2142292423	RCV002197808;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428095	10428095	10428095	-
NM_017534.6(MYH2):c.4947C>T (p.Tyr1649=)	4620	MYH2	Likely benign	3181659	RCV001423923;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428098	10428098	10428098	-
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)	4620	MYH2	Uncertain significance	-1	RCV002297090;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428108	10428108	10428108	-
NM_017534.6(MYH2):c.4932G>A (p.Glu1644=)	4620	MYH2	Likely benign	145740522	RCV000641888;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428113	10428113	17:g.10428113C>T	ClinGen:CA8390538	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4919G>A (p.Arg1640His)	4620	MYH2	Uncertain significance	772914345	RCV001977770;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428126	10428126	10428126	-
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys)	4620	MYH2	Uncertain significance	375371672	RCV001045619;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428127	10428127	17:g.10428127G>A	-
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)	4620	MYH2	Uncertain significance	-1	RCV002975555;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428129	10428129	NC_000017.10:g.10428129T>A	-
NM_017534.6(MYH2):c.4886A>G (p.Asn1629Ser)	4620	MYH2	Uncertain significance	-1	RCV003085685;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428159	10428159	NC_000017.10:g.10428159T>C	-
NM_017534.6(MYH2):c.4882C>T (p.Leu1628Phe)	4620	MYH2	Uncertain significance	2142292545	RCV001924912;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428163	10428163	10428163	-
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=)	4620	MYH2	Benign/Likely benign	148538539	RCV000279993\|RCV000540719\|RCV001548484;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10428185	10428185	17:g.10428185G>C	ClinGen:CA8390547	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4848T>C (p.Asp1616=)	4620	MYH2	Likely benign	-1	RCV003067223;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428197	10428197		-
NM_017534.6(MYH2):c.4842del (p.Asn1615fs)	4620	MYH2	Pathogenic	2073330917	RCV001921403;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428203	10428203	10428202	-
NM_017534.6(MYH2):c.4839T>C (p.Ser1613=)	4620	MYH2	Likely benign	1042185	RCV001480929;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428206	10428206	10428206	-
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val)	4620	MYH2	Uncertain significance	2142292645	RCV001986770;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428216	10428216	10428216	-
NM_017534.6(MYH2):c.4827T>C (p.Ala1609=)	4620	MYH2	Likely benign	2142292649	RCV001497361;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428218	10428218	10428218	-
NM_017534.6(MYH2):c.4818G>A (p.Thr1606=)	4620	MYH2	Likely benign	201177363	RCV000945397;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428227	10428227	17:g.10428227C>T	-
NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met)	4620	MYH2	Conflicting interpretations of pathogenicity	768621451	RCV000820756\|RCV002537476;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10428228	10428228	17:g.10428228G>A	-
NM_017534.6(MYH2):c.4812G>A (p.Gln1604=)	4620	MYH2	Likely benign	781155016	RCV000641887;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428233	10428233	NC_000017.10:g.10428233C>T	ClinGen:CA8390555	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter)	4620	MYH2	Pathogenic	772613828	RCV001879328;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428235	10428235	10428235	-
NM_017534.6(MYH2):c.4798G>A (p.Val1600Met)	4620	MYH2	Uncertain significance	774036368	RCV001350120;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428247	10428247	10428247	-
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met)	4620	MYH2	Conflicting interpretations of pathogenicity	138393827	RCV000246896\|RCV000525717\|RCV001706354;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10428271	10428271	17:g.10428271G>T	ClinGen:CA8390562	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4770C>T (p.Asp1590=)	4620	MYH2	Likely benign	1382560529	RCV001413079;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428275	10428275	17:g.10428275G>A	-
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)	4620	MYH2	Pathogenic	-1	RCV002862370;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428289	10428289	NC_000017.10:g.10428289del	-
NM_017534.6(MYH2):c.4743A>G (p.Lys1581=)	4620	MYH2	Likely benign	1267908976	RCV001450326;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428302	10428302	10428302	-
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr)	4620	MYH2	Uncertain significance	2142292793	RCV001938989;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428306	10428306	10428306	-
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)	4620	MYH2	Uncertain significance	-1	RCV003049828;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428308	10428308	NC_000017.10:g.10428308A>T	-
NM_017534.6(MYH2):c.4731G>A (p.Glu1577=)	4620	MYH2	Likely benign	-1	RCV002918091;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428314	10428314		-
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr)	4620	MYH2	Uncertain significance	113713308	RCV000810212;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428321	10428321	17:g.10428321T>G	-
NM_017534.6(MYH2):c.4722C>T (p.Val1574=)	4620	MYH2	Likely benign	561798452	RCV000878381;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428323	10428323	17:g.10428323G>A	-
NM_017534.6(MYH2):c.4697G>A (p.Arg1566His)	4620	MYH2	Uncertain significance	200732220	RCV000266357\|RCV001222151\|RCV001590957\|RCV003243076;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	10428348	10428348	NC_000017.10:g.10428348C>T	ClinGen:CA8390570	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)	4620	MYH2	Conflicting interpretations of pathogenicity	529367667	RCV001417940;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428349	10428349	10428349	-
NM_017534.6(MYH2):c.4691T>C (p.Ile1564Thr)	4620	MYH2	Uncertain significance	2073333613	RCV001066476;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428354	10428354	17:g.10428354A>G	-
NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg)	4620	MYH2	Uncertain significance	1555569889	RCV000641885;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428361	10428361	17:g.10428361C>T	ClinGen:CA398124134	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4675C>T (p.His1559Tyr)	4620	MYH2	Uncertain significance	1597448095	RCV000805466;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428370	10428370	17:g.10428370G>A	-
NM_017534.6(MYH2):c.4663-1G>C	4620	MYH2	Likely pathogenic	-1	RCV002775745;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428383	10428383	NC_000017.10:g.10428383C>G	-
NM_017534.6(MYH2):c.4662+19A>G	4620	MYH2	Likely benign	759241520	RCV002179698;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428522	10428522	10428522	-
NM_017534.6(MYH2):c.4662+15G>A	4620	MYH2	Likely benign	2142293098	RCV002196999;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428526	10428526	10428526	-
NM_017534.6(MYH2):c.4662+2T>G	4620	MYH2	Likely pathogenic	1597448170	RCV000804765;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428539	10428539	17:g.10428539A>C	-
NM_017534.6(MYH2):c.4662+1G>A	4620	MYH2	Likely pathogenic	-1	RCV003080507;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428540	10428540	NC_000017.10:g.10428540C>T	-
NM_017534.6(MYH2):c.4650A>G (p.Leu1550=)	4620	MYH2	Likely benign	1386357039	RCV001466724;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428553	10428553	17:g.10428553T>C	-
NM_017534.6(MYH2):c.4647T>C (p.Ala1549=)	4620	MYH2	Likely benign	-1	RCV003060386;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428556	10428556		-
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro)	4620	MYH2	Uncertain significance	947669039	RCV001936203;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428561	10428561	10428561	-
NM_017534.6(MYH2):c.4639C>T (p.Gln1547Ter)	4620	MYH2	Likely pathogenic	-1	RCV003148181;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428564	10428564		-
NM_017534.6(MYH2):c.4629G>C (p.Lys1543Asn)	4620	MYH2	Uncertain significance	776862337	RCV001225996;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428574	10428574	17:g.10428574C>G	-
NM_017534.6(MYH2):c.4616T>G (p.Val1539Gly)	4620	MYH2	Uncertain significance	2142293220	RCV002050016;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428587	10428587	10428587	-
NM_017534.6(MYH2):c.4603A>G (p.Ile1535Val)	4620	MYH2	Uncertain significance	2073336612	RCV001314351;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428600	10428600	10428600	-
NM_017534.6(MYH2):c.4596G>A (p.Leu1532=)	4620	MYH2	Likely benign	1449785747	RCV001246131;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428607	10428607	17:g.10428607C>T	-
NM_017534.6(MYH2):c.4585A>G (p.Ile1529Val)	4620	MYH2	Uncertain significance	2073336915	RCV001210619;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428618	10428618	17:g.10428618T>C	-
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His)	4620	MYH2	Uncertain significance	142934668	RCV000536915\|RCV001508438;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10428620	10428620	NC_000017.10:g.10428620C>T	ClinGen:CA8390586	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4582C>T (p.Arg1528Cys)	4620	MYH2	Uncertain significance	377584935	RCV001886006;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428621	10428621	10428621	-
NM_017534.6(MYH2):c.4581A>T (p.Lys1527Asn)	4620	MYH2	Uncertain significance	2142293289	RCV001985512;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428622	10428622	10428622	-
NM_017534.6(MYH2):c.4571_4573del (p.Glu1524del)	4620	MYH2	Uncertain significance	774357063	RCV001953008;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428630	10428632	10428629	-
NM_017534.6(MYH2):c.4573G>A (p.Gly1525Arg)	4620	MYH2	Uncertain significance	910402127	RCV001980999;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428630	10428630	10428630	-
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp)	4620	MYH2	Uncertain significance	1243834294	RCV002046933;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428631	10428631	10428631	-
NM_017534.6(MYH2):c.4557G>A (p.Thr1519=)	4620	MYH2	Likely benign	755267670	RCV000951810;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428646	10428646	17:g.10428646C>T	-
NM_017534.6(MYH2):c.4556C>T (p.Thr1519Met)	4620	MYH2	Uncertain significance	138796340	RCV000705634;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428647	10428647	17:g.10428647G>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4554C>T (p.Leu1518=)	4620	MYH2	Benign	375114012	RCV002161653;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428649	10428649	10428649	-
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr)	4620	MYH2	Uncertain significance	778405343	RCV000641880;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428657	10428657	NC_000017.10:g.10428657A>T	ClinGen:CA8390597	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4538-14T>C	4620	MYH2	Likely benign	-1	RCV003055825;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428679	10428679	NC_000017.10:g.10428679A>G	-
NM_017534.6(MYH2):c.4537+12T>C	4620	MYH2	Likely benign	2142293495	RCV002217678;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428756	10428756	10428756	-
NM_017534.6(MYH2):c.4537+7C>T	4620	MYH2	Conflicting interpretations of pathogenicity	375199452	RCV000321433\|RCV000874298\|RCV001311868;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10428761	10428761	NC_000017.10:g.10428761G>A	ClinGen:CA8390612	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.4537+2T>G	4620	MYH2	Likely pathogenic	2142293525	RCV001998574;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428766	10428766	10428766	-
NM_017534.6(MYH2):c.4537+1G>C	4620	MYH2	Likely pathogenic	567336764	RCV000699454\|RCV001268492;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10428767	10428767	17:g.10428767C>G	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4537+1G>A	4620	MYH2	Pathogenic/Likely pathogenic	567336764	RCV001330753\|RCV003433116;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10428767	10428767	10428767	-
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter)	4620	MYH2	Pathogenic/Likely pathogenic	929311433	RCV000699353\|RCV003403624;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|	17	10428768	10428768	17:g.10428768G>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)	4620	MYH2	Uncertain significance	-1	RCV003072062;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428771	10428771	NC_000017.10:g.10428771G>C	-
NM_017534.6(MYH2):c.4533A>G (p.Leu1511=)	4620	MYH2	Likely benign	1467089006	RCV001502699;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428772	10428772	10428772	-
NM_017534.6(MYH2):c.4529A>C (p.Asn1510Thr)	4620	MYH2	Uncertain significance	1165680648	RCV001922594;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428776	10428776	10428776	-
NM_017534.6(MYH2):c.4523A>G (p.Asn1508Ser)	4620	MYH2	Uncertain significance	764004345	RCV001214229;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428782	10428782	17:g.10428782T>C	-
NM_017534.6(MYH2):c.4521G>C (p.Glu1507Asp)	4620	MYH2	Uncertain significance	753714787	RCV002019860;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428784	10428784	10428784	-
NM_017534.6(MYH2):c.4517G>A (p.Arg1506Gln)	4620	MYH2	Uncertain significance	1049022189	RCV000816687;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428788	10428788	17:g.10428788C>T	-
NM_017534.6(MYH2):c.4517G>C (p.Arg1506Pro)	4620	MYH2	Uncertain significance	1049022189	RCV001878375;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428788	10428788	10428788	-
NM_017534.6(MYH2):c.4516C>A (p.Arg1506=)	4620	MYH2	Likely benign	1597448386	RCV001481916;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428789	10428789	17:g.10428789G>T	-
NM_017534.6(MYH2):c.4511del (p.Leu1504fs)	4620	MYH2	Pathogenic	2142293598	RCV001380185;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428794	10428794	10428793	-
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)	4620	MYH2	Pathogenic	-1	RCV003100669;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428795	10428795	NC_000017.10:g.10428797del	-
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)	4620	MYH2	Uncertain significance	-1	RCV002927433;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428816	10428816	NC_000017.10:g.10428816A>T	-
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val)	4620	MYH2	Uncertain significance	1034624770	RCV001037502;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428827	10428827	17:g.10428827G>A	-
NM_017534.6(MYH2):c.4452C>A (p.Gly1484=)	4620	MYH2	Likely benign	2073340376	RCV002103301;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428853	10428853	10428853	-
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His)	4620	MYH2	Uncertain significance	199751037	RCV000794881\|RCV002535913;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10428863	10428863	17:g.10428863C>T	-
NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys)	4620	MYH2	Uncertain significance	990939157	RCV001070749\|RCV002555898;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10428864	10428864	17:g.10428864G>A	-
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val)	4620	MYH2	Uncertain significance	1303566428	RCV001212016;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428866	10428866	17:g.10428866G>A	-
NM_017534.6(MYH2):c.4438del (p.Ala1480fs)	4620	MYH2	Pathogenic	2073340697	RCV001233149;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428867	10428867	17:g.10428867_10428867del	-
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)	4620	MYH2	Uncertain significance	-1	RCV003082675;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428874	10428874	NC_000017.10:g.10428874C>G	-
NM_017534.6(MYH2):c.4407G>A (p.Thr1469=)	4620	MYH2	Likely benign	144654838	RCV000641892;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428898	10428898	NC_000017.10:g.10428898C>T	ClinGen:CA8390632	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4406C>T (p.Thr1469Met)	4620	MYH2	Uncertain significance	760961929	RCV001064879;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428899	10428899	17:g.10428899G>A	-
NM_017534.6(MYH2):c.4392G>A (p.Gln1464=)	4620	MYH2	Likely benign	1245033619	RCV002135973;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428913	10428913	10428913	-
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)	4620	MYH2	Uncertain significance	-1	RCV002745230;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428915	10428915	NC_000017.10:g.10428915G>T	-
NM_017534.6(MYH2):c.4379C>G (p.Ala1460Gly)	4620	MYH2	Likely benign	148693677	RCV000392317\|RCV000874707\|RCV001660544;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10428926	10428926	17:g.10428926G>C	ClinGen:CA8390636	CN169374 not specified;
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro)	4620	MYH2	Uncertain significance	765135888	RCV000641882;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428929	10428929	NC_000017.10:g.10428929A>G	ClinGen:CA8390637	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4372-11del	4620	MYH2	Uncertain significance	2073341840	RCV001926244;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428944	10428944	10428943	-
NM_017534.6(MYH2):c.4372-15G>A	4620	MYH2	Likely benign	190385121	RCV002099583;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428948	10428948	10428948	-
NM_017534.6(MYH2):c.4371+15A>G	4620	MYH2	Likely benign	-1	RCV002765463;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428995	10428995	NC_000017.10:g.10428995T>C	-
NM_017534.6(MYH2):c.4371+14C>T	4620	MYH2	Likely benign	1182416611	RCV002077084;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428996	10428996	10428996	-
NM_017534.6(MYH2):c.4371+12A>G	4620	MYH2	Likely benign	-1	RCV002592065;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428998	10428998	NC_000017.10:g.10428998T>C	-
NM_017534.6(MYH2):c.4371+11C>A	4620	MYH2	Likely benign	746440872	RCV002182908;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10428999	10428999	10428999	-
NM_017534.6(MYH2):c.4371+8C>G	4620	MYH2	Likely benign	368534809	RCV001499428;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429002	10429002	10429002	-
NM_017534.6(MYH2):c.4371+1del	4620	MYH2	Pathogenic	-1	RCV002866978;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429009	10429009	NC_000017.10:g.10429010del	-
NM_017534.6(MYH2):c.4369A>G (p.Lys1457Glu)	4620	MYH2	Uncertain significance	776886264	RCV000694243;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429012	10429012	17:g.10429012T>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4368T>C (p.Asp1456=)	4620	MYH2	Likely benign	-1	RCV002730324;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429013	10429013		-
NM_017534.6(MYH2):c.4366G>A (p.Asp1456Asn)	4620	MYH2	Uncertain significance	761573741	RCV002018062;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429015	10429015	10429015	-
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser)	4620	MYH2	Uncertain significance	371923594	RCV001961521;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429020	10429020	10429020	-
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)	4620	MYH2	Uncertain significance	-1	RCV003132745;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429021	10429021	NC_000017.10:g.10429021T>C	-
NM_017534.6(MYH2):c.4352del (p.Lys1451fs)	4620	MYH2	Conflicting interpretations of pathogenicity	757195322	RCV001388271;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429029	10429029	10429028	-
NM_017534.6(MYH2):c.4338C>T (p.Ala1446=)	4620	MYH2	Likely benign	1329410668	RCV001449182;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429043	10429043	17:g.10429043G>A	-
NM_017534.6(MYH2):c.4337C>G (p.Ala1446Gly)	4620	MYH2	Uncertain significance	1567728069	RCV000693096;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429044	10429044	NC_000017.10:g.10429044G>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4330G>A (p.Ala1444Thr)	4620	MYH2	Uncertain significance	142908651	RCV000641874;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429051	10429051	NC_000017.10:g.10429051C>T	ClinGen:CA8390662	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=)	4620	MYH2	Benign/Likely benign	61739663	RCV000526733\|RCV000594733\|RCV001595015;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN169374\|MedGen:C3661900	17	10429052	10429052	17:g.10429052G>A	ClinGen:CA8390663	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4317G>A (p.Glu1439=)	4620	MYH2	Likely benign	-1	RCV002998877;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429064	10429064		-
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)	4620	MYH2	Conflicting interpretations of pathogenicity	139691540	RCV000875682\|RCV001593103;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10429077	10429077	17:g.10429077A>G	-
NM_017534.6(MYH2):c.4296G>A (p.Glu1432=)	4620	MYH2	Likely benign	-1	RCV002857602;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429085	10429085		-
NM_017534.6(MYH2):c.4294G>A (p.Glu1432Lys)	4620	MYH2	Uncertain significance	747081221	RCV000690944;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429087	10429087	17:g.10429087C>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4293C>G (p.Val1431=)	4620	MYH2	Likely benign	-1	RCV003091056;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429088	10429088		-
NM_017534.6(MYH2):c.4293C>T (p.Val1431=)	4620	MYH2	Likely benign	-1	RCV002891191;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429088	10429088		-
NM_017534.6(MYH2):c.4291G>A (p.Val1431Ile)	4620	MYH2	Uncertain significance	776820408	RCV002044147;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429090	10429090	10429090	-
NM_017534.6(MYH2):c.4287T>C (p.Asn1429=)	4620	MYH2	Likely benign	-1	RCV002644532;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429094	10429094		-
NM_017534.6(MYH2):c.4284G>A (p.Gln1428=)	4620	MYH2	Likely benign	1597448706	RCV001498056;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429097	10429097	17:g.10429097C>T	-
NM_017534.6(MYH2):c.4276C>T (p.Arg1426Trp)	4620	MYH2	Uncertain significance	773071482	RCV001320705;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429105	10429105	10429105	-
NM_017534.6(MYH2):c.4275G>A (p.Gln1425=)	4620	MYH2	Likely benign	2142294160	RCV001442750;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429106	10429106	10429106	-
NM_017534.6(MYH2):c.4269G>A (p.Thr1423=)	4620	MYH2	Likely benign	762747511	RCV001475946;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429112	10429112	10429112	-
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys)	4620	MYH2	Uncertain significance	368304404	RCV000705816\|RCV001531256;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10429120	10429120	17:g.10429120C>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4260C>T (p.Leu1420=)	4620	MYH2	Likely benign	-1	RCV002891032;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429121	10429121		-
NM_017534.6(MYH2):c.4258C>T (p.Leu1420Phe)	4620	MYH2	Benign/Likely benign	187438258	RCV000548198\|RCV002225653;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10429123	10429123	NC_000017.10:g.10429123G>A	ClinGen:CA8390681	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4252G>T (p.Ala1418Ser)	4620	MYH2	Uncertain significance	752335450	RCV000815371;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429129	10429129	17:g.10429129C>A	-
NM_017534.6(MYH2):c.4243G>A (p.Ala1415Thr)	4620	MYH2	Uncertain significance	755848527	RCV001234354;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429138	10429138	17:g.10429138C>T	-
NM_017534.6(MYH2):c.4242C>T (p.Asn1414=)	4620	MYH2	Benign	146615128	RCV000537978\|RCV001597167;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10429139	10429139	17:g.10429139G>A	ClinGen:CA8390684	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4242C>A (p.Asn1414Lys)	4620	MYH2	Uncertain significance	146615128	RCV000641870;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429139	10429139	NC_000017.10:g.10429139G>T	ClinGen:CA8390685	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4237G>A (p.Val1413Met)	4620	MYH2	Uncertain significance	-1	RCV002305405;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429144	10429144	10429144	-
NM_017534.6(MYH2):c.4222G>A (p.Glu1408Lys)	4620	MYH2	Uncertain significance	780588979	RCV001302327\|RCV003128777;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10429159	10429159	10429159	-
NM_017534.6(MYH2):c.4221G>A (p.Glu1407=)	4620	MYH2	Likely benign	747573496	RCV002175052;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429160	10429160	10429160	-
NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser)	4620	MYH2	Uncertain significance	199632177	RCV000641883\|RCV002261150;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10429168	10429168	NC_000017.10:g.10429168C>A	ClinGen:CA8390689	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln)	4620	MYH2	Uncertain significance	781252325	RCV000817091\|RCV002537415;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10429176	10429176	17:g.10429176C>T	-
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)	4620	MYH2	Conflicting interpretations of pathogenicity	-1	RCV002465057;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429177	10429177	NC_000017.10:g.10429177G>A	-
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val)	4620	MYH2	Uncertain significance	770023922	RCV001071614;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429182	10429182	17:g.10429182G>A	-
NM_017534.6(MYH2):c.4195C>A (p.Leu1399Met)	4620	MYH2	Uncertain significance	-1	RCV002607977;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429186	10429186	NC_000017.10:g.10429186G>T	-
NM_017534.6(MYH2):c.4188-11T>G	4620	MYH2	Uncertain significance	-1	RCV002624966;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429204	10429204	NC_000017.10:g.10429204A>C	-
NM_017534.6(MYH2):c.4187+19G>C	4620	MYH2	Likely benign	751997182	RCV002185802;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429897	10429897	10429897	-
NM_017534.6(MYH2):c.4187+6T>C	4620	MYH2	Uncertain significance	748256368	RCV001972204;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429910	10429910	10429910	-
NM_017534.6(MYH2):c.4185C>T (p.Ala1395=)	4620	MYH2	Likely benign	199982481	RCV001409124;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429918	10429918	17:g.10429918G>A	-
NM_017534.6(MYH2):c.4180G>T (p.Glu1394Ter)	4620	MYH2	Likely pathogenic	-1	RCV003144093;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429923	10429923	NC_000017.10:g.10429923C>A	-
NM_017534.6(MYH2):c.4163G>A (p.Arg1388His)	4620	MYH2	Uncertain significance	745754711	RCV001058698;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429940	10429940	17:g.10429940C>T	-
NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys)	4620	MYH2	Uncertain significance	140775405	RCV000819258\|RCV003258995;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10429941	10429941	17:g.10429941G>A	-
NM_017534.6(MYH2):c.4158C>A (p.Ile1386=)	4620	MYH2	Uncertain significance	778626880	RCV000376177;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429945	10429945	NC_000017.10:g.10429945G>T	ClinGen:CA8390717	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.4154C>T (p.Ala1385Val)	4620	MYH2	Uncertain significance	1406857706	RCV001317419;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429949	10429949	10429949	-
NM_017534.6(MYH2):c.4152C>T (p.Asp1384=)	4620	MYH2	Likely benign	779665835	RCV000876702;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429951	10429951	17:g.10429951G>A	-
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)	4620	MYH2	Conflicting interpretations of pathogenicity	376738763	RCV000262872\|RCV001118801;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429954	10429954	NC_000017.10:g.10429954C>T	ClinGen:CA8390720	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.4144G>A (p.Glu1382Lys)	4620	MYH2	Uncertain significance	2073357858	RCV002009516;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429959	10429959	10429959	-
NM_017534.6(MYH2):c.4143C>T (p.Tyr1381=)	4620	MYH2	Likely benign	1042076	RCV001452064;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429960	10429960	10429960	-
NM_017534.6(MYH2):c.4140A>G (p.Lys1380=)	4620	MYH2	Likely benign	-1	RCV002847134;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429963	10429963		-
NM_017534.6(MYH2):c.4128A>G (p.Gln1376=)	4620	MYH2	Likely benign	369823867	RCV001411704;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429975	10429975	10429975	-
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys)	4620	MYH2	Uncertain significance	374190003	RCV002023002\|RCV003269096;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10429986	10429986	10429986	-
NM_017534.6(MYH2):c.4110C>T (p.Ala1370=)	4620	MYH2	Conflicting interpretations of pathogenicity	377674160	RCV000318073\|RCV001472362;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10429993	10429993	NC_000017.10:g.10429993G>A	ClinGen:CA8390728	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.4103C>T (p.Ser1368Phe)	4620	MYH2	Uncertain significance	754037459	RCV000791966;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430000	10430000	17:g.10430000G>A	-
NM_017534.6(MYH2):c.4098A>G (p.Ala1366=)	4620	MYH2	Likely benign	1199962484	RCV002123167;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430005	10430005	10430005	-
NM_017534.6(MYH2):c.4094G>A (p.Arg1365Lys)	4620	MYH2	Uncertain significance	745629813	RCV000805459;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430009	10430009	17:g.10430009C>T	-
NM_017534.6(MYH2):c.4092G>A (p.Gln1364=)	4620	MYH2	Likely benign	-1	RCV002866797;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430011	10430011		-
NM_017534.6(MYH2):c.4084G>A (p.Glu1362Lys)	4620	MYH2	Uncertain significance	772043473	RCV000795678;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430019	10430019	17:g.10430019C>T	-
NM_017534.6(MYH2):c.4083C>G (p.Ala1361=)	4620	MYH2	Likely benign	780127918	RCV001433759;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430020	10430020	10430020	-
NM_017534.6(MYH2):c.4083C>T (p.Ala1361=)	4620	MYH2	Likely benign	780127918	RCV002135121;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430020	10430020	10430020	-
NM_017534.6(MYH2):c.4062G>A (p.Glu1354=)	4620	MYH2	Likely benign	2142295471	RCV001394696;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430041	10430041	10430041	-
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln)	4620	MYH2	Uncertain significance	145438977	RCV001916990;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430054	10430054	10430054	-
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp)	4620	MYH2	Uncertain significance	776018379	RCV000799066;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430055	10430055	17:g.10430055G>A	-
NM_017534.6(MYH2):c.4032C>T (p.His1344=)	4620	MYH2	Likely benign	1042074	RCV000903672;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430071	10430071	17:g.10430071G>A	-
NM_017534.6(MYH2):c.4027C>G (p.Arg1343Gly)	4620	MYH2	Uncertain significance	145911509	RCV001051954;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430076	10430076	17:g.10430076G>C	-
NM_017534.6(MYH2):c.4026C>T (p.Ser1342=)	4620	MYH2	Likely benign	1327908916	RCV002093426;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430077	10430077	10430077	-
NM_017534.6(MYH2):c.4023T>C (p.Ser1341=)	4620	MYH2	Likely benign	1232533849	RCV002114474;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430080	10430080	10430080	-
NM_017534.6(MYH2):c.4021T>A (p.Ser1341Thr)	4620	MYH2	Uncertain significance	554321580	RCV002049555;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430082	10430082	10430082	-
NM_017534.6(MYH2):c.4010A>G (p.His1337Arg)	4620	MYH2	Uncertain significance	996870471	RCV000690340;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430093	10430093	17:g.10430093T>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4008G>A (p.Ala1336=)	4620	MYH2	Likely benign	764189342	RCV001404209;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430095	10430095	10430095	-
NM_017534.6(MYH2):c.4008G>T (p.Ala1336=)	4620	MYH2	Likely benign	764189342	RCV002186710;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430095	10430095	10430095	-
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val)	4620	MYH2	Uncertain significance	138470281	RCV000372759\|RCV001035643;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430096	10430096	NC_000017.10:g.10430096G>A	ClinGen:CA8390748	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.4007C>A (p.Ala1336Glu)	4620	MYH2	Benign	138470281	RCV000950987;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430096	10430096	17:g.10430096G>T	-
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser)	4620	MYH2	Uncertain significance	779257410	RCV000559376;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430103	10430103	17:g.10430103C>A	ClinGen:CA8390749	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.4000G>A (p.Ala1334Thr)	4620	MYH2	Uncertain significance	779257410	RCV001947705;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430103	10430103	10430103	-
NM_017534.6(MYH2):c.3979G>A (p.Glu1327Lys)	4620	MYH2	Uncertain significance	2142295860	RCV002032040;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430266	10430266	10430266	-
NM_017534.6(MYH2):c.3968G>A (p.Arg1323Lys)	4620	MYH2	Uncertain significance	-1	RCV003085053;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430277	10430277	NC_000017.10:g.10430277C>T	-
NM_017534.6(MYH2):c.3966G>A (p.Lys1322=)	4620	MYH2	Likely benign	-1	RCV003074498;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430279	10430279		-
NM_017534.6(MYH2):c.3961T>C (p.Leu1321=)	4620	MYH2	Likely benign	2142295884	RCV002165600;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430284	10430284	10430284	-
NM_017534.6(MYH2):c.3958G>A (p.Glu1320Lys)	4620	MYH2	Uncertain significance	-1	RCV002643031;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430287	10430287	NC_000017.10:g.10430287C>T	-
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro)	4620	MYH2	Uncertain significance	1380534578	RCV002019795;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430295	10430295	10430295	-
NM_017534.6(MYH2):c.3946C>A (p.Gln1316Lys)	4620	MYH2	Uncertain significance	554431336	RCV001299870;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430299	10430299	10430299	-
NM_017534.6(MYH2):c.3944C>T (p.Thr1315Ile)	4620	MYH2	Uncertain significance	-1	RCV002710323;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430301	10430301	NC_000017.10:g.10430301G>A	-
NM_017534.6(MYH2):c.3943A>T (p.Thr1315Ser)	4620	MYH2	Uncertain significance	-1	RCV002972208;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430302	10430302	NC_000017.10:g.10430302T>A	-
NM_017534.6(MYH2):c.3941T>C (p.Phe1314Ser)	4620	MYH2	Uncertain significance	766227489	RCV001935879;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430304	10430304	10430304	-
NM_017534.6(MYH2):c.3939C>A (p.Ala1313=)	4620	MYH2	Likely benign	376472420	RCV001456410;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430306	10430306	17:g.10430306G>T	-
NM_017534.6(MYH2):c.3934C>G (p.Gln1312Glu)	4620	MYH2	Uncertain significance	-1	RCV002584382;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430311	10430311	NC_000017.10:g.10430311G>C	-
NM_017534.6(MYH2):c.3919T>C (p.Leu1307=)	4620	MYH2	Likely benign	1597449539	RCV001459173;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430326	10430326	17:g.10430326A>G	-
NM_017534.6(MYH2):c.3892G>A (p.Asp1298Asn)	4620	MYH2	Uncertain significance	1046313955	RCV002037342;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430353	10430353	10430353	-
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val)	4620	MYH2	Uncertain significance	777266089	RCV001224617\|RCV001311869\|RCV003246773;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	10430356	10430356	17:g.10430356G>C	-
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)	4620	MYH2	Conflicting interpretations of pathogenicity	143341678	RCV000815256\|RCV001508439;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10430361	10430361	17:g.10430361C>T	-
NM_017534.6(MYH2):c.3883C>T (p.Arg1295Cys)	4620	MYH2	Uncertain significance	370424529	RCV001925195;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430362	10430362	10430362	-
NM_017534.6(MYH2):c.3882A>G (p.Ser1294=)	4620	MYH2	Likely benign	-1	RCV002917251;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430363	10430363		-
NM_017534.6(MYH2):c.3872G>T (p.Gly1291Val)	4620	MYH2	Uncertain significance	747924610	RCV000696724;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430373	10430373	NC_000017.10:g.10430373C>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3872-16T>C	4620	MYH2	Likely benign	199732843	RCV002094346;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10430389	10430389	10430389	-
NM_017534.6(MYH2):c.3871+19G>A	4620	MYH2	Likely benign	-1	RCV002823987;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431046	10431046	NC_000017.10:g.10431046C>T	-
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His)	4620	MYH2	Uncertain significance	148326504	RCV000791848\|RCV001759489\|RCV003353023;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	10431082	10431082	17:g.10431082C>T	-
NM_017534.6(MYH2):c.3853C>A (p.Arg1285Ser)	4620	MYH2	Uncertain significance	374494789	RCV000818770;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431083	10431083	17:g.10431083G>T	-
NM_017534.6(MYH2):c.3851G>C (p.Gly1284Ala)	4620	MYH2	Uncertain significance	-1	RCV002573945;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431085	10431085	NC_000017.10:g.10431085C>G	-
NM_017534.6(MYH2):c.3849G>A (p.Arg1283=)	4620	MYH2	Likely benign	1349060342	RCV001487580;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431087	10431087	NC_000017.10:g.10431087C>T	ClinGen:CA497854483	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3848G>T (p.Arg1283Met)	4620	MYH2	Uncertain significance	2073371857	RCV001052321;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431088	10431088	17:g.10431088C>A	-
NM_017534.6(MYH2):c.3842C>T (p.Ala1281Val)	4620	MYH2	Uncertain significance	756055649	RCV001330752\|RCV002292630;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10431094	10431094	10431094	-
NM_017534.6(MYH2):c.3839C>T (p.Thr1280Ile)	4620	MYH2	Uncertain significance	886052564	RCV000278363;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431097	10431097	NC_000017.10:g.10431097G>A	ClinGen:CA10644814	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.3835C>T (p.Leu1279=)	4620	MYH2	Likely benign	-1	RCV003067224;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431101	10431101		-
NM_017534.6(MYH2):c.3832G>A (p.Asp1278Asn)	4620	MYH2	Uncertain significance	905151466	RCV001940612;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431104	10431104	10431104	-
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln)	4620	MYH2	Uncertain significance	756811670	RCV000641878;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431115	10431115	17:g.10431115C>T	ClinGen:CA8390797	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp)	4620	MYH2	Uncertain significance	191102801	RCV000641872\|RCV003227815\|RCV002533262;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	10431116	10431116	17:g.10431116G>A	ClinGen:CA8390798	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3816G>A (p.Gln1272=)	4620	MYH2	Likely benign	-1	RCV003084373;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431120	10431120		-
NM_017534.6(MYH2):c.3805G>C (p.Glu1269Gln)	4620	MYH2	Uncertain significance	201489001	RCV001979470;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431131	10431131	10431131	-
NM_017534.6(MYH2):c.3785T>G (p.Leu1262Arg)	4620	MYH2	Uncertain significance	1178928941	RCV001370772;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431151	10431151	10431151	-
NM_017534.6(MYH2):c.3777G>A (p.Glu1259=)	4620	MYH2	Uncertain significance	-1	RCV003131630;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431159	10431159		-
NM_017534.6(MYH2):c.3774A>G (p.Leu1258=)	4620	MYH2	Likely benign	1597449940	RCV001418420;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431162	10431162	17:g.10431162T>C	-
NM_017534.6(MYH2):c.3768G>T (p.Arg1256=)	4620	MYH2	Likely benign	-1	RCV003091388;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431168	10431168		-
NM_017534.6(MYH2):c.3767G>A (p.Arg1256Gln)	4620	MYH2	Uncertain significance	141448415	RCV000657939\|RCV001861687;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431169	10431169	17:g.10431169C>T	-	CN517202 not provided;
NM_017534.6(MYH2):c.3757A>T (p.Lys1253Ter)	4620	MYH2	Pathogenic	2142297044	RCV001882016;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431179	10431179	10431179	-
NM_017534.6(MYH2):c.3751C>G (p.Leu1251Val)	4620	MYH2	Uncertain significance	774428848	RCV001897025;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431185	10431185	10431185	-
NM_017534.6(MYH2):c.3748A>G (p.Asn1250Asp)	4620	MYH2	Uncertain significance	1366353041	RCV001969142;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431188	10431188	10431188	-
NM_017534.6(MYH2):c.3745-3T>C	4620	MYH2	Uncertain significance	1305490194	RCV001955548;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431194	10431194	10431194	-
NM_017534.6(MYH2):c.3744+11T>G	4620	MYH2	Likely benign	371861996	RCV002182161;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431996	10431996	10431996	-
NC_000017.10:g.(?_10431997)_(10433401_?)dup	4620	MYH2	Uncertain significance	-1	RCV001990159;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10431997	10433401	-1	-
NM_017534.6(MYH2):c.3740C>G (p.Ala1247Gly)	4620	MYH2	Uncertain significance	2073384604	RCV001238461;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432011	10432011	17:g.10432011G>C	-
NM_017534.6(MYH2):c.3731T>A (p.Val1244Asp)	4620	MYH2	Uncertain significance	-1	RCV002851397;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432020	10432020	NC_000017.10:g.10432020A>T	-
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met)	4620	MYH2	Uncertain significance	150829316	RCV000686022\|RCV002272328;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432023	10432023	NC_000017.10:g.10432023G>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3726A>G (p.Glu1242=)	4620	MYH2	Likely benign	-1	RCV003121541;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432025	10432025		-
NM_017534.6(MYH2):c.3721G>A (p.Val1241Ile)	4620	MYH2	Uncertain significance	2073384756	RCV001238837;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432030	10432030	17:g.10432030C>T	-
NM_017534.6(MYH2):c.3719A>G (p.Asn1240Ser)	4620	MYH2	Uncertain significance	779830887	RCV001236907;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432032	10432032	17:g.10432032T>C	-
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe)	4620	MYH2	Uncertain significance	138265883	RCV000352017\|RCV000522631\|RCV000698953\|RCV002521080;	N	MedGen:CN239244\|MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10432042	10432042	NC_000017.10:g.10432042G>A	ClinGen:CA8390837	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3708C>T (p.Asp1236=)	4620	MYH2	Likely benign	756540877	RCV002129323;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432043	10432043	10432043	-
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr)	4620	MYH2	Uncertain significance	143809867	RCV001318357;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432050	10432050	10432050	-
NM_017534.6(MYH2):c.3697G>T (p.Glu1233Ter)	4620	MYH2	Pathogenic	-1	RCV003071663;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432054	10432054	NC_000017.10:g.10432054C>A	-
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn)	4620	MYH2	Uncertain significance	147439455	RCV001215113\|RCV001354471\|RCV003294035;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	10432068	10432068	17:g.10432068C>T	-
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln)	4620	MYH2	Uncertain significance	139755852	RCV001295106;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432098	10432098	10432098	-
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)	4620	MYH2	Pathogenic	1187271694	RCV000806758;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432099	10432099	17:g.10432099G>A	-
NM_017534.6(MYH2):c.3642C>T (p.Asp1214=)	4620	MYH2	Likely benign	776432522	RCV001474120;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432109	10432109	10432109	-
NM_017534.6(MYH2):c.3640G>A (p.Asp1214Asn)	4620	MYH2	Uncertain significance	1597450495	RCV000800568;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432111	10432111	17:g.10432111C>T	-
NM_017534.6(MYH2):c.3635A>G (p.Gln1212Arg)	4620	MYH2	Uncertain significance	1456213666	RCV000520149\|RCV000686147;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432116	10432116	17:g.10432116T>C	ClinGen:CA398132842	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3622G>A (p.Glu1208Lys)	4620	MYH2	Uncertain significance	546948489	RCV001217507;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432129	10432129	17:g.10432129C>T	-
NM_017534.6(MYH2):c.3621C>T (p.Ala1207=)	4620	MYH2	Likely benign	368762166	RCV002133108;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432130	10432130	10432130	-
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)	4620	MYH2	Conflicting interpretations of pathogenicity	751186949	RCV001460834;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432136	10432136	10432136	-
NM_017534.6(MYH2):c.3611A>G (p.Asp1204Gly)	4620	MYH2	Uncertain significance	2073386786	RCV001056788;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432140	10432140	17:g.10432140T>C	-
NM_017534.6(MYH2):c.3604C>T (p.His1202Tyr)	4620	MYH2	Uncertain significance	764501722	RCV000802623;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432147	10432147	17:g.10432147G>A	-
NM_017534.6(MYH2):c.3594G>C (p.Leu1198=)	4620	MYH2	Likely benign	-1	RCV002933754;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432157	10432157		-
NM_017534.6(MYH2):c.3587C>G (p.Ala1196Gly)	4620	MYH2	Uncertain significance	2142298788	RCV002016274;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432164	10432164	10432164	-
NM_017534.6(MYH2):c.3585G>A (p.Ala1195=)	4620	MYH2	Conflicting interpretations of pathogenicity	143988052	RCV000295634\|RCV001088034;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432166	10432166	17:g.10432166C>T	ClinGen:CA8390859	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3584C>T (p.Ala1195Val)	4620	MYH2	Uncertain significance	373108053	RCV001061674;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432167	10432167	17:g.10432167G>A	-
NM_017534.6(MYH2):c.3584C>A (p.Ala1195Glu)	4620	MYH2	Uncertain significance	373108053	RCV001066640;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432167	10432167	17:g.10432167G>T	-
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=)	4620	MYH2	Benign/Likely benign	200505060	RCV000641897\|RCV003424219;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432169	10432169	17:g.10432169T>C	ClinGen:CA8390861	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys)	4620	MYH2	Uncertain significance	780122233	RCV002030788\|RCV002548961;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10432177	10432177	10432177	-
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg)	4620	MYH2	Uncertain significance	747186072	RCV000534190;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432179	10432179	17:g.10432179T>C	ClinGen:CA8390864	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3571C>T (p.His1191Tyr)	4620	MYH2	Uncertain significance	938797010	RCV000641869;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432180	10432180	NC_000017.10:g.10432180G>A	ClinGen:CA287738631	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3567A>G (p.Leu1189=)	4620	MYH2	Uncertain significance	886052565	RCV000387277\|RCV001120761;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432184	10432184	NC_000017.10:g.10432184T>C	ClinGen:CA10644817	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.3564C>A (p.Thr1188=)	4620	MYH2	Likely benign	776880055	RCV001982776;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432187	10432187	10432187	-
NM_017534.6(MYH2):c.3563C>A (p.Thr1188Asn)	4620	MYH2	Uncertain significance	2073387879	RCV001349118;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432188	10432188	10432188	-
NM_017534.6(MYH2):c.3555G>A (p.Glu1185=)	4620	MYH2	Likely benign	-1	RCV003080708;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432196	10432196		-
NM_017534.6(MYH2):c.3552G>C (p.Leu1184=)	4620	MYH2	Likely benign	1597450591	RCV000934087;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432199	10432199	17:g.10432199C>G	-
NM_017534.6(MYH2):c.3542G>A (p.Arg1181His)	4620	MYH2	Uncertain significance	773196254	RCV002037231;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432209	10432209	10432209	-
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys)	4620	MYH2	Uncertain significance	201768483	RCV000992409\|RCV001212920;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432210	10432210	17:g.10432210G>A	-
NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr)	4620	MYH2	Uncertain significance	765925366	RCV001304298\|RCV003294229;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10432212	10432212	10432212	-
NM_017534.6(MYH2):c.3536A>G (p.Lys1179Arg)	4620	MYH2	Uncertain significance	-1	RCV002296718;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432215	10432215	10432215	-
NM_017534.6(MYH2):c.3531C>T (p.Phe1177=)	4620	MYH2	Likely benign	148640299	RCV000641891;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432220	10432220	NC_000017.10:g.10432220G>A	ClinGen:CA8390872	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln)	4620	MYH2	Uncertain significance	886043621	RCV000317340\|RCV002519285\|RCV003133206;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432233	10432233	17:g.10432233C>T	ClinGen:CA10605742	CN169374 not specified;
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)	4620	MYH2	Conflicting interpretations of pathogenicity	767243766	RCV000887566\|RCV001476409;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432234	10432234	17:g.10432234G>T	-
NM_017534.6(MYH2):c.3510C>T (p.Asn1170=)	4620	MYH2	Likely benign	1226573854	RCV001476108;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432241	10432241	10432241	-
NM_017534.6(MYH2):c.3498G>T (p.Gln1166His)	4620	MYH2	Uncertain significance	2073388994	RCV001321129;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432253	10432253	10432253	-
NM_017534.6(MYH2):c.3489T>C (p.Thr1163=)	4620	MYH2	Conflicting interpretations of pathogenicity	780067831	RCV000292996\|RCV001483336;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432262	10432262	NC_000017.10:g.10432262A>G	ClinGen:CA8390880	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.3478G>A (p.Gly1160Ser)	4620	MYH2	Uncertain significance	-1	RCV002967688;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432273	10432273	NC_000017.10:g.10432273C>T	-
NM_017534.6(MYH2):c.3477C>T (p.Ala1159=)	4620	MYH2	Likely benign	193162376	RCV000875696;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432274	10432274	17:g.10432274G>A	-
NM_017534.6(MYH2):c.3475G>T (p.Ala1159Ser)	4620	MYH2	Uncertain significance	-1	RCV003132755;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432276	10432276	NC_000017.10:g.10432276C>A	-
NM_017534.6(MYH2):c.3468G>A (p.Leu1156=)	4620	MYH2	Uncertain significance	2073389597	RCV001115824;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432283	10432283	17:g.10432283C>T	-
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)	4620	MYH2	Conflicting interpretations of pathogenicity	376357016	RCV000754718;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432291	10432291	NC_000017.10:g.10432291C>T	-
NM_017534.6(MYH2):c.3459C>T (p.Ser1153=)	4620	MYH2	Likely benign	142095822	RCV000810304\|RCV001200116;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432292	10432292	17:g.10432292G>A	-
NM_017534.6(MYH2):c.3448GAG[1] (p.Glu1151del)	4620	MYH2	Uncertain significance	-1	RCV003085684;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432298	10432300	NC_000017.10:g.10432299TCC[1]	-
NM_017534.6(MYH2):c.3448G>A (p.Glu1150Lys)	4620	MYH2	Uncertain significance	-1	RCV003022477;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432303	10432303	NC_000017.10:g.10432303C>T	-
NM_017534.6(MYH2):c.3440G>A (p.Arg1147Gln)	4620	MYH2	Uncertain significance	760262646	RCV001303305;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432311	10432311	10432311	-
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)	4620	MYH2	Benign/Likely benign	184725551	RCV000176757\|RCV000560437;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432319	10432319	17:g.10432319G>A	ClinGen:CA202095	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3430G>C (p.Asp1144His)	4620	MYH2	Uncertain significance	2073390411	RCV001899297;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432321	10432321	10432321	-
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His)	4620	MYH2	Uncertain significance	781136210	RCV000706632\|RCV003148838;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10432326	10432326	NC_000017.10:g.10432326C>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3424C>T (p.Arg1142Cys)	4620	MYH2	Uncertain significance	752906702	RCV001054635;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432327	10432327	17:g.10432327G>A	-
NC_000017.10:g.(?_10432333)_(10434433_?)del	4620	MYH2	Likely pathogenic	-1	RCV002031158;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432333	10434433	-1	-
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)	4620	MYH2	Uncertain significance	-1	RCV002622041\|RCV002622040;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432347	10432347	NC_000017.10:g.10432347C>T	-
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp)	4620	MYH2	Uncertain significance	200134368	RCV001043796;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432348	10432348	17:g.10432348G>A	-
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln)	4620	MYH2	Uncertain significance	778993350	RCV001948102\|RCV003416600;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432356	10432356	10432356	-
NM_017534.6(MYH2):c.3394C>T (p.Arg1132Trp)	4620	MYH2	Uncertain significance	-1	RCV002621397;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432357	10432357	NC_000017.10:g.10432357G>A	-
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)	4620	MYH2	Conflicting interpretations of pathogenicity	139130605	RCV000176756\|RCV001405037;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432367	10432367	17:g.10432367G>A	ClinGen:CA242787	CN169374 not specified;
NM_017534.6(MYH2):c.3369G>C (p.Glu1123Asp)	4620	MYH2	Uncertain significance	2073391277	RCV001117260;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432382	10432382	17:g.10432382C>G	-
NM_017534.6(MYH2):c.3364G>A (p.Glu1122Lys)	4620	MYH2	Uncertain significance	-1	RCV002843225;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432387	10432387	NC_000017.10:g.10432387C>T	-
NM_017534.6(MYH2):c.3359G>A (p.Arg1120His)	4620	MYH2	Uncertain significance	-1	RCV003001880;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432392	10432392	NC_000017.10:g.10432392C>T	-
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys)	4620	MYH2	Uncertain significance	756255059	RCV000347813\|RCV000641873;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432393	10432393	NC_000017.10:g.10432393G>A	ClinGen:CA8390917	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3355-8A>G	4620	MYH2	Likely benign	1555570464	RCV000641890;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432404	10432404	17:g.10432404T>C	ClinGen:CA658798716	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3355-12C>T	4620	MYH2	Likely benign	-1	RCV002681484;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432408	10432408	NC_000017.10:g.10432408G>A	-
NC_000017.10:g.(?_10432459)_(10433077_?)dup	4620	MYH2	Uncertain significance	-1	RCV001982525;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432459	10433077	-1	-
NM_017534.6(MYH2):c.3354+18del	4620	MYH2	Likely benign	-1	RCV002680846;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432461	10432461	NC_000017.10:g.10432461del	-
NM_017534.6(MYH2):c.3354+11G>A	4620	MYH2	Likely benign	-1	RCV002932289;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432468	10432468	NC_000017.10:g.10432468C>T	-
NM_017534.6(MYH2):c.3354+9_3354+10insATTGCAAGTAAGAC	4620	MYH2	Uncertain significance	1597450796	RCV000792275;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432469	10432470	17:g.10432469_10432470insGTCTTACTTGCAAT	-
NC_000017.11:g.(?_10529152)_(10530084_?)dup	4620	MYH2	Uncertain significance	-1	RCV001033933;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432469	10433401	-1	-
NM_017534.6(MYH2):c.3354+10T>A	4620	MYH2	Likely benign	201933458	RCV002107369;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432469	10432469	10432469	-
NM_017534.6(MYH2):c.3354+6T>C	4620	MYH2	Uncertain significance	759993294	RCV000804181;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432473	10432473	17:g.10432473A>G	-
NM_017534.6(MYH2):c.3354+5G>A	4620	MYH2	Uncertain significance	-1	RCV002937443;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432474	10432474	NC_000017.10:g.10432474C>T	-
NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro)	4620	MYH2	Uncertain significance	575266045	RCV000641879\|RCV003362872;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10432480	10432480	17:g.10432480T>G	ClinGen:CA287738810	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3334A>G (p.Lys1112Glu)	4620	MYH2	Uncertain significance	150830535	RCV001058333;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432499	10432499	17:g.10432499T>C	-
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter)	4620	MYH2	Pathogenic	758264018	RCV000545497\|RCV002263776;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432502	10432502	17:g.10432502G>A	ClinGen:CA8390941	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3331C>A (p.Gln1111Lys)	4620	MYH2	Uncertain significance	-1	RCV003067321;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432502	10432502	NC_000017.10:g.10432502G>T	-
NM_017534.6(MYH2):c.3323T>C (p.Ile1108Thr)	4620	MYH2	Uncertain significance	-1	RCV002991591;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432510	10432510	NC_000017.10:g.10432510A>G	-
NM_017534.6(MYH2):c.3291_3315del (p.Gln1097fs)	4620	MYH2	Pathogenic	-1	RCV002287227;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432518	10432542	10432517	-
NM_017534.6(MYH2):c.3312G>A (p.Gln1104=)	4620	MYH2	Uncertain significance	1257247271	RCV001117261;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432521	10432521	17:g.10432521C>T	-
NM_017534.6(MYH2):c.3308A>T (p.Glu1103Val)	4620	MYH2	Conflicting interpretations of pathogenicity	139295564	RCV000552180\|RCV001557701;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432525	10432525	17:g.10432525T>A	ClinGen:CA8390945	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr)	4620	MYH2	Uncertain significance	769463886	RCV000392688\|RCV001117262;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432534	10432534	NC_000017.10:g.10432534A>G	ClinGen:CA8390946	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.3289C>A (p.Gln1097Lys)	4620	MYH2	Uncertain significance	2073393915	RCV001238885;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432544	10432544	17:g.10432544G>T	-
NM_017534.6(MYH2):c.3283A>C (p.Asn1095His)	4620	MYH2	Uncertain significance	-1	RCV002838256;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432550	10432550	NC_000017.10:g.10432550T>G	-
NM_017534.6(MYH2):c.3269A>G (p.Glu1090Gly)	4620	MYH2	Uncertain significance	-1	RCV002583197;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432564	10432564	NC_000017.10:g.10432564T>C	-
NM_017534.6(MYH2):c.3263+19C>T	4620	MYH2	Likely benign	570103943	RCV002201352;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432634	10432634	10432634	-
NM_017534.6(MYH2):c.3263+15A>G	4620	MYH2	Benign	2277651	RCV000242425\|RCV000606165\|RCV001618456;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432638	10432638	17:g.10432638T>C	ClinGen:CA8390970	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3263+12_3263+15del	4620	MYH2	Conflicting interpretations of pathogenicity	573872374	RCV000308055\|RCV002056546;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432638	10432641	NC_000017.10:g.10432639TCTT[1]	ClinGen:CA10638856	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.3263+11A>G	4620	MYH2	Conflicting interpretations of pathogenicity	890845570	RCV001118894;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432642	10432642	17:g.10432642T>C	-
NM_017534.6(MYH2):c.3263+10A>T	4620	MYH2	Likely benign	771160529	RCV000546569;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432643	10432643	17:g.10432643T>A	ClinGen:CA8390973	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys)	4620	MYH2	Uncertain significance	2142299795	RCV001880966\|RCV002552254;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10432666	10432666	10432666	-
NM_017534.6(MYH2):c.3223A>C (p.Ile1075Leu)	4620	MYH2	Uncertain significance	-1	RCV003026044;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432693	10432693	NC_000017.10:g.10432693T>G	-
NM_017534.6(MYH2):c.3218T>C (p.Met1073Thr)	4620	MYH2	Uncertain significance	1335497096	RCV001959880;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432698	10432698	10432698	-
NM_017534.6(MYH2):c.3214A>T (p.Ile1072Leu)	4620	MYH2	Uncertain significance	2073396485	RCV001308005;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432702	10432702	10432702	-
NM_017534.6(MYH2):c.3212C>T (p.Ser1071Phe)	4620	MYH2	Uncertain significance	2142299853	RCV001949970\|RCV003442964;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432704	10432704	10432704	-
NM_017534.6(MYH2):c.3205del (p.Gln1069fs)	4620	MYH2	Pathogenic	2142299866	RCV001906229;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432711	10432711	10432710	-
NM_017534.6(MYH2):c.3203C>T (p.Ala1068Val)	4620	MYH2	Uncertain significance	2073396657	RCV001233958;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432713	10432713	17:g.10432713G>A	-
NM_017534.6(MYH2):c.3199T>C (p.Leu1067=)	4620	MYH2	Likely benign	-1	RCV002725585;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432717	10432717		-
NM_017534.6(MYH2):c.3187G>T (p.Gly1063Cys)	4620	MYH2	Uncertain significance	-1	RCV002654352;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432729	10432729	NC_000017.10:g.10432729C>A	-
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)	4620	MYH2	Conflicting interpretations of pathogenicity	142586585	RCV000176577\|RCV000641896\|RCV000989749;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432735	10432735	17:g.10432735G>C	ClinGen:CA202011,UniProtKB:Q9UKX2#VAR_032632	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3169G>A (p.Ala1057Thr)	4620	MYH2	Uncertain significance	-1	RCV003132744;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432747	10432747	NC_000017.10:g.10432747C>T	-
NM_017534.6(MYH2):c.3163G>A (p.Glu1055Lys)	4620	MYH2	Uncertain significance	-1	RCV002792022;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432753	10432753	NC_000017.10:g.10432753C>T	-
NM_017534.6(MYH2):c.3161T>C (p.Leu1054Pro)	4620	MYH2	Uncertain significance	781763749	RCV001919818;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432755	10432755	10432755	-
NM_017534.6(MYH2):c.3156G>A (p.Met1052Ile)	4620	MYH2	Uncertain significance	-1	RCV002296800;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432760	10432760	10432760	-
NM_017534.6(MYH2):c.3154A>G (p.Met1052Val)	4620	MYH2	Uncertain significance	-1	RCV002756346;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432762	10432762	NC_000017.10:g.10432762T>C	-
NM_017534.6(MYH2):c.3152G>A (p.Arg1051His)	4620	MYH2	Uncertain significance	1027280616	RCV001882946;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432764	10432764	10432764	-
NM_017534.6(MYH2):c.3140A>G (p.Glu1047Gly)	4620	MYH2	Uncertain significance	2073397644	RCV001294261;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432776	10432776	10432776	-
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe)	4620	MYH2	Conflicting interpretations of pathogenicity	200217946	RCV000405248\|RCV002056547;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432788	10432788	NC_000017.10:g.10432788G>A	ClinGen:CA8390996	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)	4620	MYH2	Conflicting interpretations of pathogenicity	11658164	RCV000176578\|RCV001084444\|RCV001818425;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN169374	17	10432789	10432789	17:g.10432789A>C	ClinGen:CA242563	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3124G>A (p.Gly1042Arg)	4620	MYH2	Uncertain significance	2073398000	RCV001894109;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432792	10432792	10432792	-
NC_000017.10:g.(?_10432861)_(10433411_?)del	4620	MYH2	Uncertain significance	-1	RCV003119760;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432861	10433411		-
NM_017534.6(MYH2):c.3117+16T>A	4620	MYH2	Likely benign	748615133	RCV002195878;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432865	10432865	10432865	-
NM_017534.6(MYH2):c.3117+13T>C	4620	MYH2	Likely benign	2142300140	RCV002086514;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432868	10432868	10432868	-
NM_017534.6(MYH2):c.3117T>C (p.Asp1039=)	4620	MYH2	Uncertain significance	1158331976	RCV001952627;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432881	10432881	10432881	-
NM_017534.6(MYH2):c.3099T>C (p.Leu1033=)	4620	MYH2	Likely benign	-1	RCV002633261;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432899	10432899		-
NM_017534.6(MYH2):c.3097C>A (p.Leu1033Ile)	4620	MYH2	Likely benign	201592726	RCV000686096;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432901	10432901	17:g.10432901G>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu)	4620	MYH2	Uncertain significance	201925793	RCV000553247\|RCV002526140;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10432931	10432931	17:g.10432931C>G	ClinGen:CA8391012	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3058G>C (p.Glu1020Gln)	4620	MYH2	Uncertain significance	150248342	RCV001298219;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432940	10432940	10432940	-
NM_017534.6(MYH2):c.3048G>A (p.Leu1016=)	4620	MYH2	Likely benign	145796634	RCV000243157\|RCV000538202\|RCV001566915;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10432950	10432950	17:g.10432950C>T	ClinGen:CA8391014	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val)	4620	MYH2	Uncertain significance	771807032	RCV001994121;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432952	10432952	10432952	-
NM_017534.6(MYH2):c.3041A>G (p.Asp1014Gly)	4620	MYH2	Uncertain significance	-1	RCV003031180;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432957	10432957	NC_000017.10:g.10432957T>C	-
NM_017534.6(MYH2):c.3029A>G (p.Gln1010Arg)	4620	MYH2	Uncertain significance	148961199	RCV000686223\|RCV001508441;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10432969	10432969	NC_000017.10:g.10432969T>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3027C>G (p.His1009Gln)	4620	MYH2	Uncertain significance	761382091	RCV001300877;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432971	10432971	10432971	-
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter)	4620	MYH2	Pathogenic	1226690028	RCV001784688;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432979	10432979	10432979	-
NM_017534.6(MYH2):c.3014del (p.Leu1005fs)	4620	MYH2	Pathogenic	1567730339	RCV000701025;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432984	10432984	NC_000017.10:g.10432984del	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3011C>A (p.Ala1004Asp)	4620	MYH2	Uncertain significance	-1	RCV003131634;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432987	10432987	NC_000017.10:g.10432987G>T	-
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg)	4620	MYH2	Uncertain significance	1324293373	RCV001306647;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432993	10432993	10432993	-
NM_017534.6(MYH2):c.3002del (p.Glu1001fs)	4620	MYH2	Likely pathogenic	797045096	RCV000190605;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432996	10432996	NC_000017.10:g.10432996del	ClinGen:CA210637	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=)	4620	MYH2	Conflicting interpretations of pathogenicity	573063758	RCV000303263\|RCV001087604;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432998	10432998	17:g.10432998C>T	ClinGen:CA8391022	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2999A>C (p.Lys1000Thr)	4620	MYH2	Uncertain significance	912210806	RCV001976289;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10432999	10432999	10432999	-
NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn)	4620	MYH2	Uncertain significance	767951536	RCV000813184\|RCV001531257\|RCV003413634;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|	17	10433002	10433002	17:g.10433002G>T	-
NM_017534.6(MYH2):c.2987C>T (p.Ala996Val)	4620	MYH2	Uncertain significance	201793838	RCV001888369;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433011	10433011	10433011	-
NM_017534.6(MYH2):c.2969G>T (p.Gly990Val)	4620	MYH2	Uncertain significance	1597451166	RCV000819984;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433029	10433029	17:g.10433029C>A	-
NM_017534.6(MYH2):c.2967A>G (p.Ala989=)	4620	MYH2	Benign/Likely benign	113190032	RCV000319486\|RCV000554105\|RCV001642888;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10433031	10433031	17:g.10433031T>C	ClinGen:CA8391027	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2963T>A (p.Met988Lys)	4620	MYH2	Uncertain significance	749824406	RCV001225666;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433035	10433035	17:g.10433035A>T	-
NM_017534.6(MYH2):c.2948A>G (p.Asn983Ser)	4620	MYH2	Uncertain significance	2073401948	RCV001064573;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433050	10433050	17:g.10433050T>C	-
NM_017534.6(MYH2):c.2941-6T>C	4620	MYH2	Likely benign	751299754	RCV001485610;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433063	10433063	10433063	-
NM_017534.6(MYH2):c.2941-8C>A	4620	MYH2	Likely benign	-1	RCV003095749;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433065	10433065	NC_000017.10:g.10433065G>T	-
NM_017534.6(MYH2):c.2940+3ATCA[4]	4620	MYH2	Likely benign	775655878	RCV002081573;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433138	10433139	10433138	-
NM_017534.6(MYH2):c.2940+7A>G	4620	MYH2	Likely benign	960028879	RCV002102351;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433142	10433142	10433142	-
NM_017534.6(MYH2):c.2940G>C (p.Lys980Asn)	4620	MYH2	Uncertain significance	2073403461	RCV001364885;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433149	10433149	10433149	-
NM_017534.6(MYH2):c.2923C>T (p.His975Tyr)	4620	MYH2	Uncertain significance	754311300	RCV002032161;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433166	10433166	10433166	-
NM_017534.6(MYH2):c.2915A>G (p.Lys972Arg)	4620	MYH2	Uncertain significance	1386070071	RCV001906663;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433174	10433174	10433174	-
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)	4620	MYH2	Benign/Likely benign	143872329	RCV000176415\|RCV000585066\|RCV000989750;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433181	10433181	17:g.10433181C>T	ClinGen:CA201931,UniProtKB:Q9UKX2#VAR_032631	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2893C>T (p.Leu965=)	4620	MYH2	Uncertain significance	886052566	RCV000359660;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433196	10433196	NC_000017.10:g.10433196G>A	ClinGen:CA10638858	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2889T>C (p.Leu963=)	4620	MYH2	Benign	146355976	RCV001523481;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433200	10433200	17:g.10433200A>G	-
NM_017534.6(MYH2):c.2840G>A (p.Arg947Lys)	4620	MYH2	Uncertain significance	762535527	RCV001210099;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433249	10433249	17:g.10433249C>T	-
NM_017534.6(MYH2):c.2831C>A (p.Ala944Asp)	4620	MYH2	Uncertain significance	2142300910	RCV002047536;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433258	10433258	10433258	-
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp)	4620	MYH2	Uncertain significance	138206136	RCV000528898\|RCV001562589;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10433266	10433266	17:g.10433266C>A	ClinGen:CA8391059	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys)	4620	MYH2	Uncertain significance	1373237213	RCV000989751;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433283	10433283	17:g.10433283C>T	-
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn)	4620	MYH2	Uncertain significance	201945489	RCV001359743;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433289	10433289	10433289	-
NM_017534.6(MYH2):c.2789A>G (p.Glu930Gly)	4620	MYH2	Uncertain significance	1335748239	RCV000641881;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433300	10433300	17:g.10433300T>C	ClinGen:CA398142678	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2785A>T (p.Thr929Ser)	4620	MYH2	Uncertain significance	1555570593	RCV000550337;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433304	10433304	17:g.10433304T>A	ClinGen:CA398142732	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2775C>G (p.Ile925Met)	4620	MYH2	Uncertain significance	-1	RCV002853230;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433314	10433314	NC_000017.10:g.10433314G>C	-
NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)	4620	MYH2	Uncertain significance	-1	RCV003061523\|RCV003074906;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10433321	10433321	NC_000017.10:g.10433321G>C	-
NM_017534.6(MYH2):c.2761C>T (p.Leu921=)	4620	MYH2	Likely benign	2142301002	RCV002113643;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433328	10433328	10433328	-
NM_017534.6(MYH2):c.2729G>T (p.Arg910Met)	4620	MYH2	Uncertain significance	2073406829	RCV001247377;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433360	10433360	17:g.10433360C>A	-
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)	4620	MYH2	Conflicting interpretations of pathogenicity	780124402	RCV000405820\|RCV000579374;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10433364	10433364	NC_000017.10:g.10433364C>A	ClinGen:CA8391068	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2707G>A (p.Gly903Ser)	4620	MYH2	Uncertain significance	755189388	RCV001362587;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433382	10433382	10433382	-
NM_017534.6(MYH2):c.2705A>G (p.Glu902Gly)	4620	MYH2	Uncertain significance	2142301095	RCV002012008;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433384	10433384	10433384	-
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys)	4620	MYH2	Uncertain significance	781514305	RCV001974182;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433385	10433385	10433385	-
NM_017534.6(MYH2):c.2703C>T (p.Ala901=)	4620	MYH2	Likely benign	747870125	RCV002141710;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433386	10433386	10433386	-
NM_017534.6(MYH2):c.2698-3A>G	4620	MYH2	Uncertain significance	-1	RCV003090965;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10433394	10433394	NC_000017.10:g.10433394T>C	-
NM_017534.6(MYH2):c.2698-8A>C	4620	MYH2	Benign/Likely benign	186620412	RCV000535588\|RCV001552737;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10433399	10433399	17:g.10433399T>G	ClinGen:CA8391076	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2697+25A>G	4620	MYH2	Benign	3744565	RCV000250903\|RCV001594915\|RCV001775751;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434925	10434925	17:g.10434925T>C	ClinGen:CA8391081	CN169374 not specified;
NM_017534.6(MYH2):c.2697+7T>C	4620	MYH2	Likely benign	2073424364	RCV001495305;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434943	10434943	10434943	-
NM_017534.6(MYH2):c.2674G>A (p.Asp892Asn)	4620	MYH2	Uncertain significance	-1	RCV002647674;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434973	10434973	NC_000017.10:g.10434973C>T	-
NM_017534.6(MYH2):c.2672dup (p.Asn891fs)	4620	MYH2	Pathogenic	763860580	RCV000706098;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434974	10434975	NC_000017.10:g.10434981dup	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2671A>G (p.Asn891Asp)	4620	MYH2	Uncertain significance	763476894	RCV001906552;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434976	10434976	10434976	-
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)	4620	MYH2	Uncertain significance	-1	RCV002628649;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434981	10434981	NC_000017.10:g.10434981T>C	-
NM_017534.6(MYH2):c.2655G>A (p.Thr885=)	4620	MYH2	Conflicting interpretations of pathogenicity	141764966	RCV000301287\|RCV001115925;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10434992	10434992	NC_000017.10:g.10434992C>T	ClinGen:CA8391089	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met)	4620	MYH2	Uncertain significance	150566222	RCV000356085\|RCV000799816\|RCV002281086;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10434993	10434993	NC_000017.10:g.10434993G>A	ClinGen:CA8391090	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2642A>G (p.Glu881Gly)	4620	MYH2	Uncertain significance	-1	RCV002305075;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435005	10435005	10435005	-
NM_017534.6(MYH2):c.2635C>T (p.Leu879=)	4620	MYH2	Likely benign	2142303234	RCV001482178;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435012	10435012	10435012	-
NM_017534.6(MYH2):c.2634A>C (p.Glu878Asp)	4620	MYH2	Uncertain significance	757290160	RCV001986059;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435013	10435013	10435013	-
NM_017534.6(MYH2):c.2631G>A (p.Lys877=)	4620	MYH2	Likely benign	139585266	RCV000878967;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435016	10435016	17:g.10435016C>T	-
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly)	4620	MYH2	Uncertain significance	201784718	RCV000261499\|RCV000689879\|RCV003327394\|RCV003362757;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	10435021	10435021	NC_000017.10:g.10435021T>C	ClinGen:CA8391100	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2617G>A (p.Glu873Lys)	4620	MYH2	Uncertain significance	770099846	RCV002021794;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435030	10435030	10435030	-
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)	4620	MYH2	Uncertain significance	1567731278	RCV000709832\|RCV001063613;	N	\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435038	10435038	NC_000017.10:g.10435038G>A	-
NM_017534.6(MYH2):c.2602G>A (p.Glu868Lys)	4620	MYH2	Uncertain significance	267604724	RCV001896318;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435045	10435045	10435045	-
NM_017534.6(MYH2):c.2601C>T (p.Asp867=)	4620	MYH2	Likely benign	142129307	RCV000973339\|RCV003413767;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10435046	10435046	17:g.10435046G>A	-
NM_017534.6(MYH2):c.2577G>A (p.Lys859=)	4620	MYH2	Likely benign	-1	RCV003093657;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435070	10435070		-
NM_017534.6(MYH2):c.2571C>G (p.Thr857=)	4620	MYH2	Likely benign	-1	RCV002858098;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435076	10435076		-
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile)	4620	MYH2	Uncertain significance	184494954	RCV000176320\|RCV000641868;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435082	10435082	17:g.10435082C>T	ClinGen:CA242220	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2560G>C (p.Glu854Gln)	4620	MYH2	Uncertain significance	-1	RCV002302388;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435087	10435087	10435087	-
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val)	4620	MYH2	Uncertain significance	374630865	RCV001313655\|RCV003263943;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10435101	10435101	10435101	-
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)	4620	MYH2	Uncertain significance	-1	RCV003032801;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435105	10435105	NC_000017.10:g.10435105T>G	-
NM_017534.6(MYH2):c.2536T>G (p.Leu846Val)	4620	MYH2	Uncertain significance	-1	RCV003132741;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435111	10435111	NC_000017.10:g.10435111A>C	-
NM_017534.6(MYH2):c.2532T>G (p.Pro844=)	4620	MYH2	Likely benign	-1	RCV003088859;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435115	10435115		-
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)	4620	MYH2	Pathogenic	-1	RCV003405057;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435115	10435117		-
NM_017534.6(MYH2):c.2530C>A (p.Pro844Thr)	4620	MYH2	Uncertain significance	1328752239	RCV001320260;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435117	10435117	10435117	-
NM_017534.6(MYH2):c.2529G>C (p.Lys843Asn)	4620	MYH2	Uncertain significance	2142303448	RCV002028255;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435118	10435118	10435118	-
NM_017534.6(MYH2):c.2518T>C (p.Phe840Leu)	4620	MYH2	Uncertain significance	1242325182	RCV001930065;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435129	10435129	10435129	-
NM_017534.6(MYH2):c.2517C>T (p.Phe839=)	4620	MYH2	Likely benign	1489105001	RCV001401944;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435130	10435130	10435130	-
NM_017534.6(MYH2):c.2514C>A (p.Leu838=)	4620	MYH2	Likely benign	1597452081	RCV002092009;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435133	10435133	10435133	-
NM_017534.6(MYH2):c.2514C>T (p.Leu838=)	4620	MYH2	Likely benign	1597452081	RCV002198673;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435133	10435133	10435133	-
NM_017534.6(MYH2):c.2501C>T (p.Pro834Leu)	4620	MYH2	Uncertain significance	915946647	RCV001350478;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435146	10435146	10435146	-
NM_017534.6(MYH2):c.2496C>T (p.His832=)	4620	MYH2	Likely benign	757177803	RCV002176693;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435151	10435151	10435151	-
NM_017534.6(MYH2):c.2493G>A (p.Lys831=)	4620	MYH2	Likely benign	778712421	RCV002093929;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435154	10435154	10435154	-
NM_017534.6(MYH2):c.2478C>T (p.Ser826=)	4620	MYH2	Uncertain significance	2073428153	RCV001117381;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435169	10435169	17:g.10435169G>A	-
NM_017534.6(MYH2):c.2468A>G (p.Asn823Ser)	4620	MYH2	Uncertain significance	1378547305	RCV001117382\|RCV002284465;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10435179	10435179	17:g.10435179T>C	-
NM_017534.6(MYH2):c.2459_2467dup (p.Ile820_Tyr822dup)	4620	MYH2	Uncertain significance	2073428547	RCV001231702;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435179	10435180	17:g.10435179_10435180insTGTACTGGA	-
NM_017534.6(MYH2):c.2467A>G (p.Asn823Asp)	4620	MYH2	Uncertain significance	2073428486	RCV001980688;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435180	10435180	10435180	-
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter)	4620	MYH2	Pathogenic	2142303605	RCV001385652;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435186	10435186	10435186	-
NM_017534.6(MYH2):c.2442-12A>G	4620	MYH2	Uncertain significance	-1	RCV002998765;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435217	10435217	NC_000017.10:g.10435217T>C	-
NM_017534.6(MYH2):c.2442-20T>C	4620	MYH2	Likely benign	368701655	RCV002178247;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10435225	10435225	10435225	-
NC_000017.10:g.(?_10436582)_(10600824_?)dup	4620	MYH2	Uncertain significance	-1	RCV003119764;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436582	10600824		-
NM_017534.6(MYH2):c.2441+16T>A	4620	MYH2	Likely benign	-1	RCV002585732;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436586	10436586	NC_000017.10:g.10436586A>T	-
NM_017534.6(MYH2):c.2441+13T>C	4620	MYH2	Likely benign	181340024	RCV002168727;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436589	10436589	10436589	-
NM_017534.6(MYH2):c.2441+10del	4620	MYH2	Likely benign	765025828	RCV001392868;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436592	10436592	10436591	-
NM_017534.6(MYH2):c.2441+7A>G	4620	MYH2	Likely benign	1597452591	RCV001440005;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436595	10436595	17:g.10436595T>C	-
NM_017534.6(MYH2):c.2435A>G (p.Glu812Gly)	4620	MYH2	Uncertain significance	1597452607	RCV000821474;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436608	10436608	17:g.10436608T>C	-
NM_017534.6(MYH2):c.2422C>G (p.Gln808Glu)	4620	MYH2	Uncertain significance	-1	RCV002745814;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436621	10436621	NC_000017.10:g.10436621G>C	-
NM_017534.6(MYH2):c.2418del (p.Glu806fs)	4620	MYH2	Pathogenic	-1	RCV003090460;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436625	10436625	NC_000017.10:g.10436625del	-
NM_017534.6(MYH2):c.2418G>A (p.Glu806=)	4620	MYH2	Likely benign	-1	RCV002756616;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436625	10436625		-
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)	4620	MYH2	Conflicting interpretations of pathogenicity	200662973	RCV000455902\|RCV000490432\|RCV001723786;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10436629	10436629	17:g.10436629A>G	ClinGen:CA8391132	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter)	4620	MYH2	Pathogenic	758395765	RCV000162321;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436638	10436638	NC_000017.10:g.10436638A>T	ClinGen:CA186122,OMIM:160740.0006	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2400del (p.Phe801fs)	4620	MYH2	Pathogenic	879255254	RCV000162322;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436643	10436643	17:g.10436643_10436643del	ClinGen:CA10575690,OMIM:160740.0007	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2400G>A (p.Gly800=)	4620	MYH2	Likely benign	-1	RCV003051027;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436643	10436643		-
NM_017534.6(MYH2):c.2399G>C (p.Gly800Ala)	4620	MYH2	Uncertain significance	1270329583	RCV001917573;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436644	10436644	10436644	-
NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr)	4620	MYH2	Uncertain significance	754150715	RCV000316767\|RCV001036128;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436647	10436647	NC_000017.10:g.10436647C>G	ClinGen:CA8391137	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2393G>A (p.Cys798Tyr)	4620	MYH2	Uncertain significance	-1	RCV002588950;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436650	10436650	NC_000017.10:g.10436650C>T	-
NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser)	4620	MYH2	Uncertain significance	374943306	RCV001035426\|RCV002552089;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10436652	10436652	17:g.10436652C>A	-
NM_017534.6(MYH2):c.2391G>A (p.Arg797=)	4620	MYH2	Likely benign	-1	RCV002908729;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436652	10436652		-
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met)	4620	MYH2	Uncertain significance	771139007	RCV001216384;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436653	10436653	17:g.10436653C>A	-
NM_017534.6(MYH2):c.2382C>A (p.Thr794=)	4620	MYH2	Benign	76400103	RCV000551410\|RCV001683565;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10436661	10436661	17:g.10436661G>T	ClinGen:CA8391140	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2378G>A (p.Arg793Gln)	4620	MYH2	Uncertain significance	578188627	RCV000521318\|RCV001851482;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436665	10436665	17:g.10436665C>T	ClinGen:CA8391143	CN169374 not specified;
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter)	4620	MYH2	Pathogenic	545623839	RCV000766225\|RCV001813802;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10436666	10436666	NC_000017.10:g.10436666G>A	-
NM_017534.6(MYH2):c.2365del (p.Gln789fs)	4620	MYH2	Pathogenic	2142305450	RCV001893891;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436678	10436678	10436677	-
NM_017534.6(MYH2):c.2364C>T (p.Ala788=)	4620	MYH2	Likely benign	369107023	RCV000915468;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436679	10436679	17:g.10436679G>A	-
NM_017534.6(MYH2):c.2355C>A (p.Asp785Glu)	4620	MYH2	Uncertain significance	1392938142	RCV001946128;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436688	10436688	10436688	-
NM_017534.6(MYH2):c.2352T>A (p.Asp784Glu)	4620	MYH2	Uncertain significance	-1	RCV002850971;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436691	10436691	NC_000017.10:g.10436691A>T	-
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter)	4620	MYH2	Pathogenic	762121316	RCV000162319;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436696	10436696	NC_000017.10:g.10436696G>A	ClinGen:CA186120,OMIM:160740.0004	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2347C>A (p.Arg783=)	4620	MYH2	Likely benign	762121316	RCV001858555;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436696	10436696	17:g.10436696G>T	-
NM_017534.6(MYH2):c.2346G>A (p.Met782Ile)	4620	MYH2	Uncertain significance	2142305497	RCV001919624;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436697	10436697	10436697	-
NM_017534.6(MYH2):c.2343G>C (p.Glu781Asp)	4620	MYH2	Uncertain significance	-1	RCV002296137;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436700	10436700	10436700	-
NM_017534.6(MYH2):c.2334C>G (p.Leu778=)	4620	MYH2	Likely benign	-1	RCV002598339;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436709	10436709		-
NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe)	4620	MYH2	Uncertain significance	751563313	RCV001247359\|RCV002570353;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10436711	10436711	17:g.10436711G>A	-
NM_017534.6(MYH2):c.2331G>T (p.Gly777=)	4620	MYH2	Uncertain significance	886052567	RCV000371251\|RCV001118992;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436712	10436712	NC_000017.10:g.10436712C>A	ClinGen:CA10648527	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2331G>A (p.Gly777=)	4620	MYH2	Uncertain significance	886052567	RCV001118993;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436712	10436712	17:g.10436712C>T	-
NM_017534.6(MYH2):c.2305-1G>A	4620	MYH2	Likely pathogenic	2142305562	RCV001971478;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436739	10436739	10436739	-
NM_017534.6(MYH2):c.2305-3C>T	4620	MYH2	Uncertain significance	-1	RCV002899838;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436741	10436741	NC_000017.10:g.10436741G>A	-
NM_017534.6(MYH2):c.2305-11T>G	4620	MYH2	Uncertain significance	369500791	RCV000276791;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436749	10436749	NC_000017.10:g.10436749A>C	ClinGen:CA8391160	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2305-19C>T	4620	MYH2	Likely benign	768809024	RCV001974447;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436757	10436757	10436757	-
NM_017534.6(MYH2):c.2305-19C>A	4620	MYH2	Likely benign	-1	RCV003083837;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436757	10436757	NC_000017.10:g.10436757G>T	-
NM_017534.6(MYH2):c.2304+7T>G	4620	MYH2	Benign/Likely benign	370223713	RCV000176101\|RCV000536372;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436819	10436819	17:g.10436819A>C	ClinGen:CA201798	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2303A>C (p.Lys768Thr)	4620	MYH2	Uncertain significance	1358118988	RCV001929727;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436827	10436827	10436827	-
NM_017534.6(MYH2):c.2295G>A (p.Gly765=)	4620	MYH2	Benign/Likely benign	79757188	RCV000176100\|RCV000641886\|RCV001576161;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10436835	10436835	17:g.10436835C>T	ClinGen:CA201796	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2286T>C (p.Tyr762=)	4620	MYH2	Likely benign	139196902	RCV000908248;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436844	10436844	17:g.10436844A>G	-
NM_017534.6(MYH2):c.2280C>A (p.Thr760=)	4620	MYH2	Likely benign	891954130	RCV001476483;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436850	10436850	17:g.10436850G>T	-
NM_017534.6(MYH2):c.2277C>T (p.His759=)	4620	MYH2	Likely benign	755083709	RCV000959471;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436853	10436853	17:g.10436853G>A	-
NM_017534.6(MYH2):c.2273A>C (p.Asp758Ala)	4620	MYH2	Uncertain significance	758731503	RCV002042686;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436857	10436857	10436857	-
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)	4620	MYH2	Uncertain significance	117390537	RCV000558060\|RCV000658771\|RCV002509356;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900\|MedGen:CN169374	17	10436860	10436860	17:g.10436860A>G	ClinGen:CA8391174	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)	4620	MYH2	Conflicting interpretations of pathogenicity	202198533	RCV000543100;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436864	10436864	17:g.10436864C>T	ClinGen:CA8391175	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2265C>T (p.Ile755=)	4620	MYH2	Likely benign	146411264	RCV002200596\|RCV003222398;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10436865	10436865	10436865	-
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr)	4620	MYH2	Uncertain significance	1167250510	RCV001270738\|RCV001751540;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10436866	10436866	17:g.10436866A>G	-
NM_017534.6(MYH2):c.2250G>A (p.Lys750=)	4620	MYH2	Likely benign	-1	RCV002651018;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436880	10436880		-
NM_017534.6(MYH2):c.2244T>C (p.Ser748=)	4620	MYH2	Likely benign	-1	RCV002979608;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436886	10436886		-
NM_017534.6(MYH2):c.2225T>C (p.Ile742Thr)	4620	MYH2	Uncertain significance	773415186	RCV002010019;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436905	10436905	10436905	-
NM_017534.6(MYH2):c.2181-5A>T	4620	MYH2	Likely benign	199770682	RCV001472377;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436954	10436954	17:g.10436954T>A	-
NM_017534.6(MYH2):c.2181-7T>A	4620	MYH2	Likely benign	2073450740	RCV001061561;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436956	10436956	17:g.10436956A>T	-
NM_017534.6(MYH2):c.2181-9C>T	4620	MYH2	Uncertain significance	886052568	RCV000330819;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436958	10436958	NC_000017.10:g.10436958G>A	ClinGen:CA10648531	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.2181-14A>T	4620	MYH2	Likely benign	763527495	RCV002112420;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436963	10436963	10436963	-
NM_017534.6(MYH2):c.2181-15T>C	4620	MYH2	Likely benign	371894422	RCV002161307;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10436964	10436964	10436964	-
NM_017534.6(MYH2):c.2180+7T>G	4620	MYH2	Likely benign	-1	RCV002807223;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438383	10438383	NC_000017.10:g.10438383A>C	-
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)	4620	MYH2	Pathogenic/Likely pathogenic	-1	RCV002466824\|RCV002569353;	N	MONDO:MONDO:0019195,MedGen:C4510610, Orphanet:79091\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438394	10438394	NC_000017.10:g.10438394G>A	-
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter)	4620	MYH2	Pathogenic	1027921042	RCV001953696;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438397	10438397	10438397	-
NM_017534.6(MYH2):c.2163T>C (p.Tyr721=)	4620	MYH2	Likely benign	771919379	RCV000963552;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438407	10438407	17:g.10438407A>G	-
NM_017534.6(MYH2):c.2153G>T (p.Arg718Ile)	4620	MYH2	Uncertain significance	2073467818	RCV001315857;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438417	10438417	10438417	-
NM_017534.6(MYH2):c.2126G>A (p.Arg709His)	4620	MYH2	Uncertain significance	369618095	RCV000799948;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438444	10438444	17:g.10438444C>T	-
NM_017534.6(MYH2):c.2125C>T (p.Arg709Cys)	4620	MYH2	Uncertain significance	761461325	RCV001120966;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438445	10438445	17:g.10438445G>A	-
NM_017534.6(MYH2):c.2125C>G (p.Arg709Gly)	4620	MYH2	Uncertain significance	-1	RCV002766029;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438445	10438445	NC_000017.10:g.10438445G>C	-
NM_017534.6(MYH2):c.2124C>T (p.Ile708=)	4620	MYH2	Likely benign	764971385	RCV002123477;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438446	10438446	10438446	-
NM_017534.6(MYH2):c.2116G>A (p.Glu706Lys)	4620	MYH2	Pathogenic	121434589	RCV000015199;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438454	10438454	17:g.10438454C>T	ClinGen:CA123753,UniProtKB:Q9UKX2#VAR_032630,OMIM:160740.0001	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser)	4620	MYH2	Uncertain significance	2142307936	RCV002211388\|RCV003225222;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438463	10438463	10438463	-
NM_017534.6(MYH2):c.2106C>T (p.Asn702=)	4620	MYH2	Benign/Likely benign	145039915	RCV000175468\|RCV000537443;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438464	10438464	17:g.10438464G>A	ClinGen:CA201465	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2102G>T (p.Cys701Phe)	4620	MYH2	Uncertain significance	1259249860	RCV002035116;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438468	10438468	10438468	-
NM_017534.6(MYH2):c.2092C>G (p.Gln698Glu)	4620	MYH2	Uncertain significance	142443410	RCV001893384;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438478	10438478	10438478	-
NM_017534.6(MYH2):c.2090A>G (p.His697Arg)	4620	MYH2	Uncertain significance	753195074	RCV002040429;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438480	10438480	10438480	-
NM_017534.6(MYH2):c.2077G>A (p.Glu693Lys)	4620	MYH2	Uncertain significance	1426839625	RCV001311870\|RCV001871782;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438493	10438493	10438493	-
NM_017534.6(MYH2):c.2076T>C (p.His692=)	4620	MYH2	Likely benign	-1	RCV002780489;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438494	10438494		-
NM_017534.6(MYH2):c.2074C>T (p.His692Tyr)	4620	MYH2	Uncertain significance	-1	RCV002781185;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438496	10438496	NC_000017.10:g.10438496G>A	-
NM_017534.6(MYH2):c.2071G>A (p.Glu691Lys)	4620	MYH2	Uncertain significance	972757672	RCV001299563;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438499	10438499	10438499	-
NM_017534.6(MYH2):c.2068A>G (p.Met690Val)	4620	MYH2	Uncertain significance	375334939	RCV001892967;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438502	10438502	10438502	-
NM_017534.6(MYH2):c.2066C>T (p.Ala689Val)	4620	MYH2	Uncertain significance	-1	RCV002991802;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438504	10438504	NC_000017.10:g.10438504G>A	-
NM_017534.6(MYH2):c.2063-2A>T	4620	MYH2	Likely pathogenic	1349048266	RCV000696387;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438509	10438509	17:g.10438509T>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2062+8A>G	4620	MYH2	Benign/Likely benign	117562194	RCV000641893\|RCV001584478;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10438587	10438587	NC_000017.10:g.10438587T>C	ClinGen:CA8391228	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2061T>C (p.Pro687=)	4620	MYH2	Uncertain significance	2073469824	RCV001217265;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438596	10438596	17:g.10438596A>G	-
NM_017534.6(MYH2):c.2059C>T (p.Pro687Ser)	4620	MYH2	Uncertain significance	2073469870	RCV001229431;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438598	10438598	17:g.10438598G>A	-
NM_017534.6(MYH2):c.2057C>A (p.Thr686Asn)	4620	MYH2	Uncertain significance	767880435	RCV000816432;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438600	10438600	17:g.10438600G>T	-
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser)	4620	MYH2	Uncertain significance	761148856	RCV001289031\|RCV003132376;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438612	10438612	10438612	-
NM_017534.6(MYH2):c.2031G>A (p.Arg677=)	4620	MYH2	Likely benign	764492569	RCV001461927;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438626	10438626	10438626	-
NM_017534.6(MYH2):c.2020C>T (p.His674Tyr)	4620	MYH2	Uncertain significance	1555571125	RCV000641884\|RCV003278966;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10438637	10438637	17:g.10438637G>A	ClinGen:CA398151790	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.2000A>G (p.Asn667Ser)	4620	MYH2	Uncertain significance	750604697	RCV000641875;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438657	10438657	NC_000017.10:g.10438657T>C	ClinGen:CA8391237	C1854106 605637 Inclusion body myopathy 3;
NC_000017.11:g.10535371_10535372insGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACG	4620	MYH2	Pathogenic	-1	RCV001941632;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438674	10438675		-
NM_017534.6(MYH2):c.1975-1G>C	4620	MYH2	Likely pathogenic	201082272	RCV000413648\|RCV001377614;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438683	10438683	17:g.10438683C>G	ClinGen:CA8391239	CN517202 not provided;
NM_017534.6(MYH2):c.1975-2A>G	4620	MYH2	Pathogenic	746770617	RCV000162320;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438684	10438684	17:g.10438684T>C	ClinGen:CA8391240,OMIM:160740.0005	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1975-9_1975-8inv	4620	MYH2	Likely benign	-1	RCV002143179;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438690	10438691	10438690	-
NM_017534.6(MYH2):c.1975-9G>A	4620	MYH2	Benign	3744566	RCV000244825\|RCV000385305\|RCV001683084;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10438691	10438691	17:g.10438691C>T	ClinGen:CA8391241	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.1975-9G>C	4620	MYH2	Benign	3744566	RCV000874912;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438691	10438691	17:g.10438691C>G	-
NM_017534.6(MYH2):c.1975-14dup	4620	MYH2	Benign	-1	RCV002914758;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10438695	10438696	NC_000017.10:g.10438700dup	-
NM_017534.6(MYH2):c.1959G>A (p.Val653=)	4620	MYH2	Conflicting interpretations of pathogenicity	376346567	RCV000592578\|RCV001086748;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439862	10439862	17:g.10439862C>T	ClinGen:CA8391257	CN169374 not specified;
NM_017534.6(MYH2):c.1958T>C (p.Val653Ala)	4620	MYH2	Uncertain significance	1452856320	RCV000558800;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439863	10439863	NC_000017.10:g.10439863A>G	ClinGen:CA398152347	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1938G>A (p.Lys646=)	4620	MYH2	Likely benign	140568348	RCV001439627;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439883	10439883	10439883	-
NM_017534.6(MYH2):c.1930AAG[2] (p.Lys646del)	4620	MYH2	Uncertain significance	2142309594	RCV001917920;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439883	10439885	10439882	-
NM_017534.6(MYH2):c.1927G>A (p.Gly643Ser)	4620	MYH2	Uncertain significance	781153789	RCV002017876;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439894	10439894	10439894	-
NM_017534.6(MYH2):c.1925del (p.Gly642fs)	4620	MYH2	Pathogenic	2142309612	RCV001563619;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439896	10439896	10439895	-
NM_017534.6(MYH2):c.1923A>G (p.Lys641=)	4620	MYH2	Likely benign	1333835750	RCV002169610;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439898	10439898	10439898	-
NM_017534.6(MYH2):c.1913G>A (p.Gly638Glu)	4620	MYH2	Uncertain significance	2073484495	RCV001116041;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439908	10439908	17:g.10439908C>T	-
NM_017534.6(MYH2):c.1901_1902inv (p.Gly634Val)	4620	MYH2	Uncertain significance	-1	RCV003024623;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439919	10439920	NC_000017.10:g.10439919_10439920inv	-
NM_017534.6(MYH2):c.1901G>C (p.Gly634Ala)	4620	MYH2	Uncertain significance	770538729	RCV001928542;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439920	10439920	10439920	-
NM_017534.6(MYH2):c.1898-3C>T	4620	MYH2	Conflicting interpretations of pathogenicity	370752980	RCV000248663\|RCV000875488;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439926	10439926	17:g.10439926G>A	ClinGen:CA8391267	CN169374 not specified;
NM_017534.6(MYH2):c.1898-6C>T	4620	MYH2	Uncertain significance	-1	RCV003053227;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10439929	10439929	NC_000017.10:g.10439929G>A	-
NM_017534.6(MYH2):c.1897+15T>C	4620	MYH2	Likely benign	-1	RCV002634522;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440535	10440535	NC_000017.10:g.10440535A>G	-
NM_017534.6(MYH2):c.1897+7C>T	4620	MYH2	Likely benign	-1	RCV002852213;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440543	10440543	NC_000017.10:g.10440543G>A	-
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser)	4620	MYH2	Uncertain significance	778516827	RCV000529086;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440568	10440568	17:g.10440568C>A	ClinGen:CA8391283	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1830A>C (p.Gly610=)	4620	MYH2	Likely benign	1041742576	RCV002094580;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440617	10440617	10440617	-
NM_017534.6(MYH2):c.1825G>A (p.Val609Ile)	4620	MYH2	Uncertain significance	-1	RCV003032835;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440622	10440622	NC_000017.10:g.10440622C>T	-
NM_017534.6(MYH2):c.1821C>T (p.Thr607=)	4620	MYH2	Likely benign	367835082	RCV002099658;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440626	10440626	10440626	-
NM_017534.6(MYH2):c.1812G>A (p.Leu604=)	4620	MYH2	Likely benign	371489019	RCV001406025;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440635	10440635	10440635	-
NM_017534.6(MYH2):c.1806C>T (p.Asp602=)	4620	MYH2	Likely benign	147705043	RCV002172504;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440641	10440641	10440641	-
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)	4620	MYH2	Uncertain significance	-1	RCV003132750;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440651	10440651	NC_000017.10:g.10440651T>C	-
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys)	4620	MYH2	Uncertain significance	1555571267	RCV000596856\|RCV000690809;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440655	10440655	17:g.10440655C>T	ClinGen:CA398155188	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys)	4620	MYH2	Uncertain significance	763994556	RCV000803425;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440671	10440671	17:g.10440671G>C	-
NM_017534.6(MYH2):c.1763T>C (p.Val588Ala)	4620	MYH2	Uncertain significance	753668463	RCV001874945\|RCV002551676;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10440684	10440684	10440684	-
NM_017534.6(MYH2):c.1758T>A (p.Ala586=)	4620	MYH2	Uncertain significance	2073493923	RCV001881599;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440689	10440689	10440689	-
NM_017534.6(MYH2):c.1750C>A (p.His584Asn)	4620	MYH2	Uncertain significance	-1	RCV003071288;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440697	10440697	NC_000017.10:g.10440697G>T	-
NM_017534.6(MYH2):c.1746G>A (p.Leu582=)	4620	MYH2	Likely benign	778765592	RCV001478577;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440701	10440701	10440701	-
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr)	4620	MYH2	Uncertain significance	757972369	RCV001872670;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440706	10440706	10440706	-
NM_017534.6(MYH2):c.1737C>G (p.His579Gln)	4620	MYH2	Uncertain significance	2073494382	RCV001058395;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440710	10440710	17:g.10440710G>C	-
NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys)	4620	MYH2	Uncertain significance	564509544	RCV001878880\|RCV003442933;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10440718	10440718	10440718	-
NM_017534.6(MYH2):c.1719del (p.Gly574fs)	4620	MYH2	Pathogenic	2073494828	RCV001218727;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440728	10440728	17:g.10440728_10440728del	-
NM_017534.6(MYH2):c.1705C>T (p.Pro569Ser)	4620	MYH2	Uncertain significance	1567733741	RCV002013420;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440742	10440742	10440742	-
NM_017534.6(MYH2):c.1695C>A (p.Asn565Lys)	4620	MYH2	Uncertain significance	771444036	RCV001945114;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440752	10440752	10440752	-
NM_017534.6(MYH2):c.1680G>C (p.Leu560=)	4620	MYH2	Likely benign	1254393512	RCV001479246;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440767	10440767	10440767	-
NM_017534.6(MYH2):c.1673A>T (p.Gln558Leu)	4620	MYH2	Uncertain significance	2073495432	RCV001338243;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440774	10440774	10440774	-
NM_017534.6(MYH2):c.1656G>A (p.Lys552=)	4620	MYH2	Likely benign	2142310777	RCV001397652;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440791	10440791	10440791	-
NM_017534.6(MYH2):c.1646CCT[3] (p.Ser550dup)	4620	MYH2	Uncertain significance	2073495820	RCV001937853;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440795	10440796	10440795	-
NM_017534.6(MYH2):c.1647C>G (p.Thr549=)	4620	MYH2	Likely benign	2142310791	RCV002140574;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440800	10440800	10440800	-
NM_017534.6(MYH2):c.1646C>A (p.Thr549Asn)	4620	MYH2	Uncertain significance	1160867842	RCV001372305;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440801	10440801	10440801	-
NM_017534.6(MYH2):c.1644C>A (p.Asp548Glu)	4620	MYH2	Uncertain significance	886052569	RCV000327358\|RCV001117491;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440803	10440803	NC_000017.10:g.10440803G>T	ClinGen:CA10638872	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.1641A>G (p.Thr547=)	4620	MYH2	Likely benign	-1	RCV002590963;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440806	10440806		-
NM_017534.6(MYH2):c.1605C>T (p.Ser535=)	4620	MYH2	Likely benign	776466384	RCV001448892;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440842	10440842	10440842	-
NM_017534.6(MYH2):c.1599C>A (p.Ile533=)	4620	MYH2	Likely benign	1242525725	RCV002083554;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440848	10440848	10440848	-
NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)	4620	MYH2	Uncertain significance	-1	RCV002636206\|RCV003167548;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10440852	10440852	NC_000017.10:g.10440852C>T	-
NM_017534.6(MYH2):c.1587+12A>G	4620	MYH2	Likely benign	-1	RCV003079423;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440970	10440970	NC_000017.10:g.10440970T>C	-
NM_017534.6(MYH2):c.1587+5G>T	4620	MYH2	Uncertain significance	192223842	RCV000641876;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440977	10440977	17:g.10440977C>A	ClinGen:CA8391342	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1581C>T (p.Ile527=)	4620	MYH2	Likely benign	1050588952	RCV002090988;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440988	10440988	10440988	-
NM_017534.6(MYH2):c.1573G>A (p.Glu525Lys)	4620	MYH2	Uncertain significance	2142311074	RCV001914928;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10440996	10440996	10440996	-
NM_017534.6(MYH2):c.1569C>T (p.Cys523=)	4620	MYH2	Likely benign	757583409	RCV002095248;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441000	10441000	10441000	-
NM_017534.6(MYH2):c.1566C>T (p.Ala522=)	4620	MYH2	Conflicting interpretations of pathogenicity	142383679	RCV001501348;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441003	10441003	10441003	-
NM_017534.6(MYH2):c.1565C>T (p.Ala522Val)	4620	MYH2	Uncertain significance	-1	RCV003132742;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441004	10441004	NC_000017.10:g.10441004G>A	-
NM_017534.6(MYH2):c.1549G>A (p.Gly517Arg)	4620	MYH2	Uncertain significance	-1	RCV002894343;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441020	10441020	NC_000017.10:g.10441020C>T	-
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val)	4620	MYH2	Uncertain significance	894307740	RCV001362822;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441023	10441023	10441023	-
NM_017534.6(MYH2):c.1543G>A (p.Asp515Asn)	4620	MYH2	Uncertain significance	372386851	RCV001300258\|RCV001726480;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10441026	10441026	10441026	-
NM_017534.6(MYH2):c.1536G>A (p.Thr512=)	4620	MYH2	Likely benign	146376676	RCV001409973;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441033	10441033	10441033	-
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met)	4620	MYH2	Uncertain significance	376478405	RCV000819364\|RCV002307628;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN169374	17	10441034	10441034	17:g.10441034G>A	-
NM_017534.6(MYH2):c.1528G>C (p.Glu510Gln)	4620	MYH2	Uncertain significance	772963819	RCV001045437;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441041	10441041	17:g.10441041C>G	-
NM_017534.6(MYH2):c.1526T>A (p.Ile509Asn)	4620	MYH2	Uncertain significance	-1	RCV003051903;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441043	10441043	NC_000017.10:g.10441043A>T	-
NM_017534.6(MYH2):c.1518G>T (p.Lys506Asn)	4620	MYH2	Uncertain significance	-1	RCV003132754;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441051	10441051	NC_000017.10:g.10441051C>A	-
NM_017534.6(MYH2):c.1507G>C (p.Glu503Gln)	4620	MYH2	Uncertain significance	865974946	RCV000704936;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441062	10441062	NC_000017.10:g.10441062C>G	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1497G>A (p.Leu499=)	4620	MYH2	Likely benign	-1	RCV003059609;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441072	10441072		-
NM_017534.6(MYH2):c.1495C>T (p.Leu499=)	4620	MYH2	Likely benign	770838005	RCV002108498;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441074	10441074	10441074	-
NM_017534.6(MYH2):c.1493T>C (p.Val498Ala)	4620	MYH2	Uncertain significance	1567733956	RCV001349362\|RCV003169720;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10441076	10441076	10441076	-
NM_017534.6(MYH2):c.1492G>A (p.Val498Met)	4620	MYH2	Uncertain significance	374726398	RCV001062910;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441077	10441077	17:g.10441077C>T	-
NM_017534.6(MYH2):c.1491C>T (p.Phe497=)	4620	MYH2	Likely benign	1005296954	RCV001395002;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441078	10441078	17:g.10441078G>A	-
NM_017534.6(MYH2):c.1467A>G (p.Gln489=)	4620	MYH2	Likely benign	1433555287	RCV002158187;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441102	10441102	10441102	-
NM_017534.6(MYH2):c.1455T>C (p.Asn485=)	4620	MYH2	Likely benign	-1	RCV002607936;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441114	10441114		-
NM_017534.6(MYH2):c.1444A>C (p.Asn482His)	4620	MYH2	Uncertain significance	886052570	RCV000381998;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441125	10441125	NC_000017.10:g.10441125T>G	ClinGen:CA10648533	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.1444A>T (p.Asn482Tyr)	4620	MYH2	Uncertain significance	886052570	RCV001318289;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441125	10441125	10441125	-
NM_017534.6(MYH2):c.1441A>G (p.Ile481Val)	4620	MYH2	Uncertain significance	2142311275	RCV001902098;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441128	10441128	10441128	-
NM_017534.6(MYH2):c.1434G>A (p.Gln478=)	4620	MYH2	Likely benign	-1	RCV002985697;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441135	10441135		-
NM_017534.6(MYH2):c.1417-2_1417-1delinsCC	4620	MYH2	Likely pathogenic	2073501817	RCV001048670;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441153	10441154	NC_000017.10:g.10441153_10441154delinsGG	-
NM_017534.6(MYH2):c.1417-16A>G	4620	MYH2	Likely benign	-1	RCV002770971;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10441168	10441168	NC_000017.10:g.10441168T>C	-
NM_017534.6(MYH2):c.1416+3G>C	4620	MYH2	Uncertain significance	1242041194	RCV000807807;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442519	10442519	17:g.10442519C>G	-
NM_017534.6(MYH2):c.1401T>C (p.Gly467=)	4620	MYH2	Likely benign	1597455437	RCV000983415;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442537	10442537	17:g.10442537A>G	-
NM_017534.6(MYH2):c.1395T>C (p.Ile465=)	4620	MYH2	Uncertain significance	-1	RCV003132752;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442543	10442543		-
NM_017534.6(MYH2):c.1391A>G (p.Asp464Gly)	4620	MYH2	Uncertain significance	-1	RCV002833597;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442547	10442547	NC_000017.10:g.10442547T>C	-
NM_017534.6(MYH2):c.1385T>C (p.Val462Ala)	4620	MYH2	Uncertain significance	2142313049	RCV002029225;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442553	10442553	10442553	-
NM_017534.6(MYH2):c.1381G>A (p.Gly461Arg)	4620	MYH2	Uncertain significance	1238892450	RCV000641877;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442557	10442557	NC_000017.10:g.10442557C>T	ClinGen:CA398158722	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1380C>T (p.Ile460=)	4620	MYH2	Likely benign	1057356939	RCV002187481;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442558	10442558	10442558	-
NM_017534.6(MYH2):c.1360C>A (p.Gln454Lys)	4620	MYH2	Uncertain significance	-1	RCV002600021;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442578	10442578	NC_000017.10:g.10442578G>T	-
NM_017534.6(MYH2):c.1360C>G (p.Gln454Glu)	4620	MYH2	Uncertain significance	-1	RCV003054247;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442578	10442578	NC_000017.10:g.10442578G>C	-
NM_017534.6(MYH2):c.1359G>C (p.Lys453Asn)	4620	MYH2	Uncertain significance	138998538	RCV002028878;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442579	10442579	10442579	-
NM_017534.6(MYH2):c.1358A>G (p.Lys453Arg)	4620	MYH2	Uncertain significance	1555571482	RCV000544916;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442580	10442580	17:g.10442580T>C	ClinGen:CA398158933	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1353C>T (p.Asp451=)	4620	MYH2	Likely benign	2142313100	RCV002156611;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442585	10442585	10442585	-
NM_017534.6(MYH2):c.1344G>A (p.Gln448=)	4620	MYH2	Likely benign	752068908	RCV002193973;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442594	10442594	10442594	-
NM_017534.6(MYH2):c.1338C>A (p.Ile446=)	4620	MYH2	Likely benign	755412365	RCV002086630;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442600	10442600	10442600	-
NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu)	4620	MYH2	Uncertain significance	201040489	RCV000481860\|RCV000815881;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442604	10442604	NC_000017.10:g.10442604C>A	ClinGen:CA16620326	CN169374 not specified;
NM_017534.6(MYH2):c.1334G>A (p.Arg445His)	4620	MYH2	Uncertain significance	201040489	RCV001035054;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442604	10442604	17:g.10442604C>T	-
NM_017534.6(MYH2):c.1333C>T (p.Arg445Cys)	4620	MYH2	Uncertain significance	752702044	RCV001052770;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442605	10442605	17:g.10442605G>A	-
NM_017534.6(MYH2):c.1316_1321del (p.Phe439_Leu440del)	4620	MYH2	Uncertain significance	2073521807	RCV001207984;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442617	10442622	17:g.10442617_10442622del	-
NM_017534.6(MYH2):c.1313del (p.Met438fs)	4620	MYH2	Likely pathogenic	-1	RCV002790015;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442625	10442625	NC_000017.10:g.10442625del	-
NM_017534.6(MYH2):c.1311G>C (p.Lys437Asn)	4620	MYH2	Uncertain significance	2142313163	RCV001891154;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442627	10442627	10442627	-
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys)	4620	MYH2	Uncertain significance	756281353	RCV001214397\|RCV003405400;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10442632	10442632	17:g.10442632C>T	-
NM_017534.6(MYH2):c.1305C>T (p.Tyr435=)	4620	MYH2	Likely benign	539415599	RCV002165614;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442633	10442633	10442633	-
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile)	4620	MYH2	Uncertain significance	143204063	RCV001062547;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442638	10442638	17:g.10442638C>T	-
NM_017534.6(MYH2):c.1299C>T (p.Ala433=)	4620	MYH2	Likely benign	-1	RCV002923542;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442639	10442639		-
NM_017534.6(MYH2):c.1297G>C (p.Ala433Pro)	4620	MYH2	Uncertain significance	-1	RCV002611357;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442641	10442641	NC_000017.10:g.10442641C>G	-
NM_017534.6(MYH2):c.1275C>T (p.Asn425=)	4620	MYH2	Likely benign	151000841	RCV000530219;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442663	10442663	NC_000017.10:g.10442663G>A	ClinGen:CA8391396	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys)	4620	MYH2	Uncertain significance	151000841	RCV000699418;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442663	10442663	17:g.10442663G>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1267G>A (p.Val423Met)	4620	MYH2	Uncertain significance	1433670000	RCV001343261;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442671	10442671	10442671	-
NM_017534.6(MYH2):c.1266+11A>T	4620	MYH2	Likely benign	-1	RCV002642428;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442750	10442750	NC_000017.10:g.10442750T>A	-
NM_017534.6(MYH2):c.1266+5G>C	4620	MYH2	Uncertain significance	758217131	RCV000809069;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442756	10442756	17:g.10442756C>G	-
NM_017534.6(MYH2):c.1266+5G>A	4620	MYH2	Uncertain significance	758217131	RCV000795379;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442756	10442756	17:g.10442756C>T	-
NM_017534.6(MYH2):c.1263A>G (p.Glu421=)	4620	MYH2	Likely benign	1170405370	RCV002144797;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442764	10442764	10442764	-
NM_017534.6(MYH2):c.1251C>A (p.Gly417=)	4620	MYH2	Conflicting interpretations of pathogenicity	746987085	RCV001117492;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442776	10442776	17:g.10442776G>T	-
NM_017534.6(MYH2):c.1250G>C (p.Gly417Ala)	4620	MYH2	Likely benign	201775814	RCV002195127;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442777	10442777	10442777	-
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser)	4620	MYH2	Uncertain significance	148270782	RCV001038972;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442778	10442778	17:g.10442778C>T	-
NM_017534.6(MYH2):c.1241T>C (p.Val414Ala)	4620	MYH2	Uncertain significance	2073524537	RCV001202039;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442786	10442786	17:g.10442786A>G	-
NM_017534.6(MYH2):c.1236G>A (p.Glu412=)	4620	MYH2	Likely benign	772987945	RCV002213154;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442791	10442791	10442791	-
NM_017534.6(MYH2):c.1228G>A (p.Gly410Ser)	4620	MYH2	Uncertain significance	146229690	RCV000801594;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442799	10442799	17:g.10442799C>T	-
NM_017534.6(MYH2):c.1227C>T (p.Val409=)	4620	MYH2	Conflicting interpretations of pathogenicity	563146441	RCV000343336\|RCV000641894;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442800	10442800	NC_000017.10:g.10442800G>A	ClinGen:CA8391423	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1195C>T (p.Leu399Phe)	4620	MYH2	Uncertain significance	-1	RCV003078631;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442832	10442832	NC_000017.10:g.10442832G>A	-
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly)	4620	MYH2	Uncertain significance	139212712	RCV001038585\|RCV002464358;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10442853	10442853	17:g.10442853T>C	-
NM_017534.6(MYH2):c.1161G>A (p.Ala387=)	4620	MYH2	Benign	141134519	RCV000556148;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442866	10442866	17:g.10442866C>T	ClinGen:CA8391431	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val)	4620	MYH2	Uncertain significance	527337606	RCV000415310;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10442867	10442867	17:g.10442867G>A	ClinGen:CA8391432	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1143A>C (p.Thr381=)	4620	MYH2	Likely benign	2073530757	RCV001404324;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443249	10443249	10443249	-
NM_017534.6(MYH2):c.1086T>C (p.Tyr362=)	4620	MYH2	Likely benign	145946759	RCV001409049;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443306	10443306	17:g.10443306A>G	ClinGen:CA8391452	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1083T>C (p.His361=)	4620	MYH2	Likely benign	754882670	RCV001484204;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443309	10443309	10443309	-
NM_017534.6(MYH2):c.1082A>T (p.His361Leu)	4620	MYH2	Uncertain significance	139478967	RCV001063667;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443310	10443310	17:g.10443310T>A	-
NM_017534.6(MYH2):c.1081C>A (p.His361Asn)	4620	MYH2	Uncertain significance	752699239	RCV000793224;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443311	10443311	17:g.10443311G>T	-
NM_017534.6(MYH2):c.1078A>T (p.Met360Leu)	4620	MYH2	Uncertain significance	201434968	RCV001906267;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443314	10443314	10443314	-
NM_017534.6(MYH2):c.1072G>T (p.Ala358Ser)	4620	MYH2	Uncertain significance	-1	RCV002288417;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443320	10443320	10443320	-
NM_017534.6(MYH2):c.1068G>A (p.Thr356=)	4620	MYH2	Conflicting interpretations of pathogenicity	116419997	RCV000392932\|RCV000875185;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443324	10443324	NC_000017.10:g.10443324C>T	ClinGen:CA8391457	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.1068G>C (p.Thr356=)	4620	MYH2	Conflicting interpretations of pathogenicity	116419997	RCV000548963\|RCV001788282;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10443324	10443324	NC_000017.10:g.10443324C>G	ClinGen:CA8391456	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.1046A>G (p.Lys349Arg)	4620	MYH2	Uncertain significance	748792149	RCV001049681;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443346	10443346	17:g.10443346T>C	-
NM_017534.6(MYH2):c.1024T>G (p.Leu342Val)	4620	MYH2	Uncertain significance	753710050	RCV002025828;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443368	10443368	10443368	-
NM_017534.6(MYH2):c.1008+9A>G	4620	MYH2	Likely benign	-1	RCV003107452;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443902	10443902	NC_000017.10:g.10443902T>C	-
NM_017534.6(MYH2):c.1008+8G>A	4620	MYH2	Likely benign	1177477956	RCV001484946;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443903	10443903	10443903	-
NM_017534.6(MYH2):c.1008+1G>A	4620	MYH2	Likely pathogenic	781504304	RCV001195539\|RCV001238200;	N	MONDO:MONDO:0018206,MedGen:C5192594, Orphanet:363677\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443910	10443910	17:g.10443910C>T	-
NM_017534.6(MYH2):c.1005A>G (p.Thr335=)	4620	MYH2	Likely benign	148584222	RCV002200485\|RCV003312047;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10443914	10443914	10443914	-
NM_017534.6(MYH2):c.994C>T (p.Leu332=)	4620	MYH2	Likely benign	907817512	RCV001449486;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443925	10443925	10443925	-
NM_017534.6(MYH2):c.988G>A (p.Glu330Lys)	4620	MYH2	Uncertain significance	-1	RCV002948750;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443931	10443931	NC_000017.10:g.10443931C>T	-
NM_017534.6(MYH2):c.986A>G (p.Gln329Arg)	4620	MYH2	Uncertain significance	1023760701	RCV000702827;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443933	10443933	17:g.10443933T>C	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn)	4620	MYH2	Uncertain significance	200893594	RCV000700384;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443940	10443940	NC_000017.10:g.10443940C>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.978C>A (p.Ile326=)	4620	MYH2	Likely benign	1001051198	RCV001477834;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443941	10443941	10443941	-
NM_017534.6(MYH2):c.978C>T (p.Ile326=)	4620	MYH2	Likely benign	1001051198	RCV002113883;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443941	10443941	10443941	-
NM_017534.6(MYH2):c.974G>C (p.Ser325Thr)	4620	MYH2	Uncertain significance	-1	RCV003051194;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443945	10443945	NC_000017.10:g.10443945C>G	-
NM_017534.6(MYH2):c.957G>A (p.Gly319=)	4620	MYH2	Likely benign	770934297	RCV002134544;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443962	10443962	10443962	-
NM_017534.6(MYH2):c.956G>A (p.Gly319Glu)	4620	MYH2	Uncertain significance	2142314883	RCV001991260;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443963	10443963	10443963	-
NM_017534.6(MYH2):c.950G>T (p.Ser317Ile)	4620	MYH2	Uncertain significance	1567735281	RCV000706406;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443969	10443969	NC_000017.10:g.10443969C>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.930A>G (p.Pro310=)	4620	MYH2	Uncertain significance	2142314920	RCV002014739;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443989	10443989	10443989	-
NM_017534.6(MYH2):c.924G>A (p.Thr308=)	4620	MYH2	Likely benign	-1	RCV002998878;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443995	10443995		-
NM_017534.6(MYH2):c.923C>T (p.Thr308Met)	4620	MYH2	Uncertain significance	2073541339	RCV001221987;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10443996	10443996	17:g.10443996G>A	-
NM_017534.6(MYH2):c.919A>G (p.Thr307Ala)	4620	MYH2	Uncertain significance	-1	RCV003032736;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10444000	10444000	NC_000017.10:g.10444000T>C	-
NM_017534.6(MYH2):c.905-8G>A	4620	MYH2	Likely benign	-1	RCV002623987;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10444022	10444022	NC_000017.10:g.10444022C>T	-
NM_017534.6(MYH2):c.905-17C>T	4620	MYH2	Likely benign	-1	RCV002584720;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10444031	10444031	NC_000017.10:g.10444031G>A	-
NM_017534.6(MYH2):c.905-19T>C	4620	MYH2	Likely benign	760446745	RCV002119382;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10444033	10444033	10444033	-
NM_017534.6(MYH2):c.904+19C>A	4620	MYH2	Likely benign	-1	RCV002838643;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446173	10446173	NC_000017.10:g.10446173G>T	-
NM_017534.6(MYH2):c.904+10G>A	4620	MYH2	Benign	719277	RCV000253273\|RCV000608889\|RCV001675744;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10446182	10446182	17:g.10446182C>T	ClinGen:CA8391502	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.904+1G>A	4620	MYH2	Pathogenic	879255253	RCV000162318;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446191	10446191	17:g.10446191C>T	ClinGen:CA10575689,OMIM:160740.0003	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.904+1G>C	4620	MYH2	Uncertain significance	-1	RCV003226136;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446191	10446191		-
NM_017534.6(MYH2):c.897A>T (p.Glu299Asp)	4620	MYH2	Uncertain significance	201854230	RCV001979467;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446199	10446199	10446199	-
NM_017534.6(MYH2):c.882G>A (p.Ser294=)	4620	MYH2	Likely benign	201035972	RCV000546179\|RCV003424113;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10446214	10446214	17:g.10446214C>T	ClinGen:CA8391504	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.881C>T (p.Ser294Leu)	4620	MYH2	Uncertain significance	2073575109	RCV001921114;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446215	10446215	10446215	-
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile)	4620	MYH2	Uncertain significance	774544504	RCV001301827\|RCV001751580\|RCV002543093;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	10446218	10446218	10446218	-
NM_017534.6(MYH2):c.844G>A (p.Ala282Thr)	4620	MYH2	Uncertain significance	-1	RCV002634124;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446252	10446252	NC_000017.10:g.10446252C>T	-
NM_017534.6(MYH2):c.834C>T (p.Phe278=)	4620	MYH2	Benign/Likely benign	370416173	RCV000875132\|RCV001572207;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10446262	10446262	17:g.10446262G>A	-
NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)	4620	MYH2	Uncertain significance	-1	RCV003132743;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446272	10446272	NC_000017.10:g.10446272C>A	-
NM_017534.6(MYH2):c.814G>C (p.Glu272Gln)	4620	MYH2	Uncertain significance	2073575845	RCV001057084;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446282	10446282	17:g.10446282C>G	-
NM_017534.6(MYH2):c.811C>T (p.Leu271=)	4620	MYH2	Benign	115487650	RCV000874599;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446285	10446285	17:g.10446285G>A	-
NM_017534.6(MYH2):c.806-20T>C	4620	MYH2	Likely benign	-1	RCV002642431;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446310	10446310	NC_000017.10:g.10446310A>G	-
NM_017534.6(MYH2):c.805+16del	4620	MYH2	Likely benign	-1	RCV002672179;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446399	10446399	NC_000017.10:g.10446399del	-
NM_017534.6(MYH2):c.805+8T>A	4620	MYH2	Benign/Likely benign	201549295	RCV000531137\|RCV003424112;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10446407	10446407	17:g.10446407A>T	ClinGen:CA8391526	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.798T>G (p.Ile266Met)	4620	MYH2	Uncertain significance	2073578403	RCV001204341;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446422	10446422	17:g.10446422A>C	-
NM_017534.6(MYH2):c.782T>C (p.Leu261Pro)	4620	MYH2	Uncertain significance	1597457334	RCV000813091;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446438	10446438	17:g.10446438A>G	-
NM_017534.6(MYH2):c.781C>T (p.Leu261=)	4620	MYH2	Likely benign	1191670471	RCV002114987;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446439	10446439	10446439	-
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala)	4620	MYH2	Uncertain significance	776266174	RCV000820291\|RCV003307548;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10446448	10446448	17:g.10446448T>C	-
NM_017534.6(MYH2):c.762C>A (p.His254Gln)	4620	MYH2	Uncertain significance	2073579202	RCV001321743;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446458	10446458	10446458	-
NM_017534.6(MYH2):c.742-1G>C	4620	MYH2	Likely pathogenic	2142318412	RCV002010003;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446479	10446479	10446479	-
NM_017534.6(MYH2):c.742-30A>C	4620	MYH2	Benign	11078849	RCV000248088\|RCV001722333\|RCV001775752;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10446508	10446508	17:g.10446508T>G	ClinGen:CA8391538	CN169374 not specified;
NM_017534.6(MYH2):c.741+18G>A	4620	MYH2	Likely benign	368457931	RCV002079800;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447010	10447010	10447010	-
NM_017534.6(MYH2):c.741+15C>T	4620	MYH2	Likely benign	374034315	RCV002216874;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447013	10447013	10447013	-
NM_017534.6(MYH2):c.741+11T>C	4620	MYH2	Likely benign	1006764609	RCV002173793;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447017	10447017	10447017	-
NM_017534.6(MYH2):c.741+6T>C	4620	MYH2	Uncertain significance	2142319220	RCV001947991;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447022	10447022	10447022	-
NM_017534.6(MYH2):c.741+1G>A	4620	MYH2	Likely pathogenic	770945288	RCV000702039;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447027	10447027	NC_000017.10:g.10447027C>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.737G>A (p.Arg246His)	4620	MYH2	Uncertain significance	773713563	RCV001923690;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447032	10447032	10447032	-
NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)	4620	MYH2	Uncertain significance	-1	RCV003131628;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447033	10447033	NC_000017.10:g.10447033G>A	-
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe)	4620	MYH2	Uncertain significance	201044964	RCV000703549;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447038	10447038	NC_000017.10:g.10447038G>A	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.715G>A (p.Val239Met)	4620	MYH2	Uncertain significance	-1	RCV003063197\|RCV003325614;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10447054	10447054	NC_000017.10:g.10447054C>T	-
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)	4620	MYH2	Uncertain significance	-1	RCV002751179;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447059	10447059	NC_000017.10:g.10447059T>C	-
NM_017534.6(MYH2):c.706G>A (p.Ala236Thr)	4620	MYH2	Pathogenic	147708782	RCV000162323;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447063	10447063	17:g.10447063C>T	ClinGen:CA186124,OMIM:160740.0008	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.705C>T (p.Asn235=)	4620	MYH2	Likely benign	201018335	RCV000874273;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447064	10447064	17:g.10447064G>A	-
NM_017534.6(MYH2):c.701G>A (p.Gly234Asp)	4620	MYH2	Uncertain significance	1567736673	RCV001313691;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447068	10447068	10447068	-
NM_017534.6(MYH2):c.688C>T (p.Leu230=)	4620	MYH2	Conflicting interpretations of pathogenicity	375063863	RCV000339766;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447081	10447081	NC_000017.10:g.10447081G>A	ClinGen:CA8391566	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.687A>G (p.Leu229=)	4620	MYH2	Benign/Likely benign	145014502	RCV000557361\|RCV001584280;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10447082	10447082	17:g.10447082T>C	ClinGen:CA8391567	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.683C>G (p.Pro228Arg)	4620	MYH2	Uncertain significance	1389727909	RCV001312851;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447086	10447086	10447086	-
NM_017534.6(MYH2):c.682C>A (p.Pro228Thr)	4620	MYH2	Uncertain significance	367639163	RCV001360613;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447087	10447087	10447087	-
NM_017534.6(MYH2):c.651G>T (p.Gly217=)	4620	MYH2	Uncertain significance	2142319416	RCV001910205;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447118	10447118	10447118	-
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg)	4620	MYH2	Uncertain significance	1204821136	RCV001121055;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447120	10447120	17:g.10447120C>T	-
NM_017534.6(MYH2):c.649-18C>G	4620	MYH2	Likely benign	774417322	RCV002152070;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447138	10447138	10447138	-
NM_017534.6(MYH2):c.649-20G>C	4620	MYH2	Likely benign	372967647	RCV002164982;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447140	10447140	10447140	-
NM_017534.6(MYH2):c.648+20T>A	4620	MYH2	Likely benign	763440976	RCV002140733;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447199	10447199	10447199	-
NM_017534.6(MYH2):c.648+10A>C	4620	MYH2	Likely benign	754960434	RCV001425281;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447209	10447209	10447209	-
NM_017534.6(MYH2):c.635C>A (p.Ser212Tyr)	4620	MYH2	Uncertain significance	-1	RCV002814706;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447232	10447232	NC_000017.10:g.10447232G>T	-
NM_017534.6(MYH2):c.633T>G (p.Thr211=)	4620	MYH2	Likely benign	-1	RCV003053580;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447234	10447234		-
NM_017534.6(MYH2):c.625G>T (p.Glu209Ter)	4620	MYH2	Pathogenic	1250462450	RCV002002348;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447242	10447242	10447242	-
NM_017534.6(MYH2):c.620A>T (p.Lys207Met)	4620	MYH2	Uncertain significance	373306322	RCV001322067;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447247	10447247	10447247	-
NM_017534.6(MYH2):c.612G>C (p.Glu204Asp)	4620	MYH2	Uncertain significance	1266665896	RCV002046910;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447255	10447255	10447255	-
NM_017534.6(MYH2):c.609T>G (p.Gly203=)	4620	MYH2	Likely benign	547575703	RCV000876792;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447258	10447258	17:g.10447258A>C	-
NM_017534.6(MYH2):c.602T>C (p.Val201Ala)	4620	MYH2	Uncertain significance	-1	RCV002643365;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447265	10447265	NC_000017.10:g.10447265A>G	-
NM_017534.6(MYH2):c.600A>G (p.Ala200=)	4620	MYH2	Likely benign	199961294	RCV002137834;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447267	10447267	10447267	-
NM_017534.6(MYH2):c.579C>T (p.Ile193=)	4620	MYH2	Uncertain significance	886052571	RCV000392945\|RCV001121056;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447288	10447288	NC_000017.10:g.10447288G>A	ClinGen:CA10638874	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.573T>A (p.Arg191=)	4620	MYH2	Likely benign	2073593239	RCV002094073;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447294	10447294	10447294	-
NM_017534.6(MYH2):c.572G>A (p.Arg191His)	4620	MYH2	Uncertain significance	778659452	RCV001882072;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447295	10447295	10447295	-
NM_017534.6(MYH2):c.571C>T (p.Arg191Cys)	4620	MYH2	Uncertain significance	770369215	RCV001992003;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447296	10447296	10447296	-
NM_017534.6(MYH2):c.545G>A (p.Gly182Asp)	4620	MYH2	Uncertain significance	-1	RCV002649428;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447322	10447322	NC_000017.10:g.10447322C>T	-
NM_017534.6(MYH2):c.541T>C (p.Ser181Pro)	4620	MYH2	Uncertain significance	2073593497	RCV001238199;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447326	10447326	17:g.10447326A>G	-
NM_017534.6(MYH2):c.534-10G>A	4620	MYH2	Likely benign	2142319744	RCV002153364;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447343	10447343	10447343	-
NM_017534.6(MYH2):c.533+19T>A	4620	MYH2	Likely benign	752762468	RCV002107329;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447398	10447398	10447398	-
NM_017534.6(MYH2):c.533+6T>G	4620	MYH2	Uncertain significance	545924178	RCV001914951;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447411	10447411	10447411	-
NM_017534.6(MYH2):c.533+2T>G	4620	MYH2	Likely pathogenic	2142319855	RCV002016047;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447415	10447415	10447415	-
NM_017534.6(MYH2):c.533+1G>A	4620	MYH2	Likely pathogenic	754104695	RCV002009412;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447416	10447416	10447416	-
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)	4620	MYH2	Conflicting interpretations of pathogenicity	756953958	RCV000162324;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447417	10447417	17:g.10447417G>A	ClinGen:CA186126,OMIM:160740.0009	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.509G>A (p.Arg170Gln)	4620	MYH2	Uncertain significance	778801023	RCV000524924;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447441	10447441	17:g.10447441C>T	ClinGen:CA8391609	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)	4620	MYH2	Conflicting interpretations of pathogenicity	750232956	RCV001949286;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447442	10447442	10447442	-
NM_017534.6(MYH2):c.506-20G>C	4620	MYH2	Likely benign	368387130	RCV002128268;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10447464	10447464	10447464	-
NM_017534.6(MYH2):c.505+10C>A	4620	MYH2	Likely benign	-1	RCV002574597;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448653	10448653	NC_000017.10:g.10448653G>T	-
NM_017534.6(MYH2):c.495C>A (p.Phe165Leu)	4620	MYH2	Uncertain significance	886052572	RCV000299993\|RCV001121057;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448673	10448673	NC_000017.10:g.10448673G>T	ClinGen:CA10649462	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.483C>T (p.Asn161=)	4620	MYH2	Likely benign	1597458366	RCV001494176;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448685	10448685	10448685	-
NM_017534.6(MYH2):c.474C>G (p.Ile158Met)	4620	MYH2	Uncertain significance	780719632	RCV001981215;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448694	10448694	10448694	-
NM_017534.6(MYH2):c.469T>G (p.Ser157Ala)	4620	MYH2	Uncertain significance	-1	RCV002886108;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448699	10448699	NC_000017.10:g.10448699A>C	-
NM_017534.6(MYH2):c.468C>T (p.Phe156=)	4620	MYH2	Likely benign	1555572051	RCV000547429;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448700	10448700	17:g.10448700G>A	ClinGen:CA497867027	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.465C>A (p.Ile155=)	4620	MYH2	Conflicting interpretations of pathogenicity	777358650	RCV001490925\|RCV003326524;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10448703	10448703	17:g.10448703G>T	-
NM_017534.6(MYH2):c.462C>T (p.His154=)	4620	MYH2	Likely benign	1440894208	RCV000936483;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448706	10448706	17:g.10448706G>A	-
NM_017534.6(MYH2):c.456G>A (p.Pro152=)	4620	MYH2	Likely benign	772443784	RCV002169627;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448712	10448712	10448712	-
NM_017534.6(MYH2):c.455C>T (p.Pro152Leu)	4620	MYH2	Uncertain significance	-1	RCV002608860;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448713	10448713	NC_000017.10:g.10448713G>A	-
NM_017534.6(MYH2):c.435C>A (p.Gly145=)	4620	MYH2	Likely benign	-1	RCV002730830;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448733	10448733		-
NM_017534.6(MYH2):c.431G>A (p.Arg144Gln)	4620	MYH2	Uncertain significance	773318939	RCV001895342;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448737	10448737	10448737	-
NM_017534.6(MYH2):c.425C>G (p.Ala142Gly)	4620	MYH2	Uncertain significance	766305131	RCV001238475;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448743	10448743	17:g.10448743G>C	-
NM_017534.6(MYH2):c.409C>T (p.Pro137Ser)	4620	MYH2	Uncertain significance	-1	RCV003011364;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448759	10448759	NC_000017.10:g.10448759G>A	-
NM_017534.6(MYH2):c.399T>A (p.Pro133=)	4620	MYH2	Benign	11078850	RCV000243742\|RCV000354660\|RCV000615857\|RCV001722332;	N	MedGen:CN169374\|MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10448769	10448769	17:g.10448769A>T	ClinGen:CA8391652	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.399T>C (p.Pro133=)	4620	MYH2	Likely benign	11078850	RCV001444396;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448769	10448769	10448769	-
NM_017534.6(MYH2):c.384C>T (p.Pro128=)	4620	MYH2	Likely benign	776836063	RCV002091286;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448784	10448784	10448784	-
NM_017534.6(MYH2):c.384C>G (p.Pro128=)	4620	MYH2	Likely benign	-1	RCV002914875;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448784	10448784		-
NM_017534.6(MYH2):c.382C>A (p.Pro128Thr)	4620	MYH2	Uncertain significance	2142321785	RCV001883174;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448786	10448786	10448786	-
NM_017534.6(MYH2):c.373A>C (p.Thr125Pro)	4620	MYH2	Uncertain significance	886044672	RCV000259412\|RCV002522044;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448795	10448795	17:g.10448795T>G	ClinGen:CA10607043	CN169374 not specified;
NM_017534.6(MYH2):c.363C>G (p.Leu121=)	4620	MYH2	Uncertain significance	780366788	RCV001345844;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448805	10448805	10448805	-
NM_017534.6(MYH2):c.357A>T (p.Ser119=)	4620	MYH2	Likely benign	1438390266	RCV001470147;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448811	10448811	10448811	-
NM_017534.6(MYH2):c.349-5C>T	4620	MYH2	Likely benign	777007197	RCV001433618;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448824	10448824	17:g.10448824G>A	-
NM_017534.6(MYH2):c.349-10C>T	4620	MYH2	Likely benign	2142321844	RCV002163891;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448829	10448829	10448829	-
NM_017534.6(MYH2):c.349-14T>C	4620	MYH2	Likely benign	-1	RCV002805804;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10448833	10448833	NC_000017.10:g.10448833A>G	-
NM_017534.6(MYH2):c.348C>T (p.Tyr116=)	4620	MYH2	Uncertain significance	570034593	RCV002028337;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450792	10450792	10450792	-
NM_017534.6(MYH2):c.343A>G (p.Ile115Val)	4620	MYH2	Uncertain significance	781687668	RCV001317762;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450797	10450797	10450797	-
NM_017534.6(MYH2):c.333A>T (p.Ala111=)	4620	MYH2	Likely benign	202132767	RCV001481863;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450807	10450807	10450807	-
NM_017534.6(MYH2):c.332C>T (p.Ala111Val)	4620	MYH2	Conflicting interpretations of pathogenicity	140468333	RCV000594531\|RCV001088255;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450808	10450808	17:g.10450808G>A	ClinGen:CA8391679	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.326G>A (p.Arg109His)	4620	MYH2	Conflicting interpretations of pathogenicity	1468175087	RCV000497738\|RCV001342457;	N	MedGen:CN517202\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450814	10450814	17:g.10450814C>T	ClinGen:CA398172402	CN517202 not provided;
NM_017534.6(MYH2):c.324A>G (p.Glu108=)	4620	MYH2	Benign	12600539	RCV000250668\|RCV000605509\|RCV001618455;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10450816	10450816	17:g.10450816T>C	ClinGen:CA8391681	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.322G>A (p.Glu108Lys)	4620	MYH2	Uncertain significance	1597459444	RCV000799392;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450818	10450818	17:g.10450818C>T	-
NM_017534.6(MYH2):c.301G>C (p.Ala101Pro)	4620	MYH2	Uncertain significance	886052573	RCV000315091\|RCV001116149\|RCV003422281;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10450839	10450839	17:g.10450839C>G	ClinGen:CA10638881	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.276C>T (p.Ala92=)	4620	MYH2	Likely benign	2142325071	RCV001398101;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450864	10450864	10450864	-
NM_017534.6(MYH2):c.265G>A (p.Glu89Lys)	4620	MYH2	Uncertain significance	759350345	RCV001295505;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450875	10450875	10450875	-
NM_017534.6(MYH2):c.264C>T (p.Ile88=)	4620	MYH2	Likely benign	138646250	RCV002106185;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450876	10450876	10450876	-
NM_017534.6(MYH2):c.256G>A (p.Asp86Asn)	4620	MYH2	Uncertain significance	1567738501	RCV000698236;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450884	10450884	NC_000017.10:g.10450884C>T	-	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.254A>G (p.Tyr85Cys)	4620	MYH2	Uncertain significance	-1	RCV002303821;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450886	10450886	10450886	-
NM_017534.6(MYH2):c.239T>C (p.Met80Thr)	4620	MYH2	Uncertain significance	764144162	RCV001936522;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450901	10450901	10450901	-
NM_017534.6(MYH2):c.212C>T (p.Thr71Ile)	4620	MYH2	Uncertain significance	145472283	RCV000641871;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450928	10450928	NC_000017.10:g.10450928G>A	ClinGen:CA8391693	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.205-3C>T	4620	MYH2	Uncertain significance	371123671	RCV000369807\|RCV001850714;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10450938	10450938	17:g.10450938G>A	ClinGen:CA8391694	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.204+20C>T	4620	MYH2	Likely benign	-1	RCV002613312;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451014	10451014	NC_000017.10:g.10451014G>A	-
NM_017534.6(MYH2):c.204+4A>G	4620	MYH2	Uncertain significance	-1	RCV002627863;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451030	10451030	NC_000017.10:g.10451030T>C	-
NM_017534.6(MYH2):c.193G>C (p.Glu65Gln)	4620	MYH2	Uncertain significance	767472238	RCV000544138;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451045	10451045	NC_000017.10:g.10451045C>G	ClinGen:CA8391714	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.186G>T (p.Val62=)	4620	MYH2	Likely benign	2073653873	RCV002192156;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451052	10451052	10451052	-
NM_017534.6(MYH2):c.184G>C (p.Val62Leu)	4620	MYH2	Uncertain significance	-1	RCV002587384;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451054	10451054	NC_000017.10:g.10451054C>G	-
NM_017534.6(MYH2):c.183G>A (p.Thr61=)	4620	MYH2	Benign	142539913	RCV000712354\|RCV001082950\|RCV001821550;	N	MedGen:C3661900\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN169374	17	10451055	10451055	17:g.10451055C>T	ClinGen:CA8391717	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.182C>T (p.Thr61Met)	4620	MYH2	Uncertain significance	145979297	RCV001366566\|RCV002282531;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10451056	10451056	10451056	-
NM_017534.6(MYH2):c.177A>G (p.Lys59=)	4620	MYH2	Likely benign	779105792	RCV001496705;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451061	10451061	17:g.10451061T>C	-
NM_017534.6(MYH2):c.156C>A (p.Ile52=)	4620	MYH2	Likely benign	770211650	RCV001444802;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451082	10451082	17:g.10451082G>T	-
NM_017534.6(MYH2):c.132A>C (p.Lys44Asn)	4620	MYH2	Uncertain significance	2073654641	RCV001117584;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451106	10451106	17:g.10451106T>G	-
NM_017534.6(MYH2):c.130A>G (p.Lys44Glu)	4620	MYH2	Uncertain significance	769767111	RCV001063791;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451108	10451108	17:g.10451108T>C	-
NM_017534.6(MYH2):c.122C>T (p.Ala41Val)	4620	MYH2	Conflicting interpretations of pathogenicity	765877777	RCV000273767\|RCV002056548;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451116	10451116	17:g.10451116G>A	ClinGen:CA8391730	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.112G>A (p.Val38Ile)	4620	MYH2	Uncertain significance	1273237983	RCV001359301;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451126	10451126	10451126	-
NM_017534.6(MYH2):c.91C>T (p.Pro31Ser)	4620	MYH2	Uncertain significance	-1	RCV003121940;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451147	10451147	NC_000017.10:g.10451147G>A	-
NM_017534.6(MYH2):c.87T>C (p.Asn29=)	4620	MYH2	Conflicting interpretations of pathogenicity	148217318	RCV000328779\|RCV000641899\|RCV002285313;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:CN517202	17	10451151	10451151	17:g.10451151A>G	ClinGen:CA8391735	C1854106 605637 Inclusion body myopathy 3;
NM_017534.6(MYH2):c.75T>C (p.Ile25=)	4620	MYH2	Likely benign	1426892693	RCV002189957;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451163	10451163	10451163	-
NM_017534.6(MYH2):c.74T>C (p.Ile25Thr)	4620	MYH2	Uncertain significance	372837852	RCV001351003\|RCV003284246;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MeSH:D030342,MedGen:C0950123	17	10451164	10451164	10451164	-
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu)	4620	MYH2	Uncertain significance	141174023	RCV000364770;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451167	10451167	17:g.10451167C>A	ClinGen:CA8391739	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.71G>A (p.Arg24His)	4620	MYH2	Uncertain significance	-1	RCV003142632;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451167	10451167	NC_000017.10:g.10451167C>T	-
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)	4620	MYH2	Uncertain significance	-1	RCV003073592\|RCV003326647;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091\|MedGen:C3661900	17	10451168	10451168	NC_000017.10:g.10451168G>A	-
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter)	4620	MYH2	Conflicting interpretations of pathogenicity	769712128	RCV002035416;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451186	10451186	10451186	-
NM_017534.6(MYH2):c.41C>T (p.Ala14Val)	4620	MYH2	Conflicting interpretations of pathogenicity	770499680	RCV000412768\|RCV000951690;	N	MedGen:CN169374\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451197	10451197	17:g.10451197G>A	ClinGen:CA8391747	CN169374 not specified;
NM_017534.6(MYH2):c.19T>C (p.Leu7=)	4620	MYH2	Likely benign	753844617	RCV001402890;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451219	10451219	10451219	-
NM_017534.6(MYH2):c.18A>T (p.Glu6Asp)	4620	MYH2	Uncertain significance	-1	RCV003132756;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451220	10451220	NC_000017.10:g.10451220T>A	-
NM_017534.6(MYH2):c.15A>C (p.Ser5=)	4620	MYH2	Likely benign	-1	RCV002876646;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451223	10451223		-
NM_017534.6(MYH2):c.5G>T (p.Ser2Ile)	4620	MYH2	Uncertain significance	-1	RCV002295881;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451233	10451233	10451233	-
NM_017534.6(MYH2):c.3G>C (p.Met1Ile)	4620	MYH2	Uncertain significance	-1	RCV003054830;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451235	10451235	NC_000017.10:g.10451235C>G	-
NM_017534.6(MYH2):c.-10T>C	4620	MYH2	Uncertain significance	886052574	RCV000270189\|RCV001117585;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10451247	10451247	17:g.10451247A>G	ClinGen:CA10644824	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.-34C>T	4620	MYH2	Uncertain significance	573601098	RCV001117586;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10452705	10452705	17:g.10452705G>A	-
NM_017534.6(MYH2):c.-60T>C	4620	MYH2	Uncertain significance	886052575	RCV000325429\|RCV001117587;	N	MedGen:CN239244\|MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10452731	10452731	17:g.10452731A>G	ClinGen:CA10644827	CN239244 Inclusion Body Myopathy, Dominant;
NM_017534.6(MYH2):c.-64+13A>G	4620	MYH2	Uncertain significance	886052576	RCV000380098;	N	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637, Orphanet:363677, Orphanet:79091	17	10452940	10452940	17:g.10452940T>C	ClinGen:CA10638884	CN239244 Inclusion Body Myopathy, Dominant;

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