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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Myopathies, Nemaline (D017696)
..Starting node ..Nemaline myopathy 1 (C538348)
Child Nodes:
Sister Nodes:
..Cardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
..Intranuclear Rod Myopathy (C580202)
..KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
..Myopathy, Actin, Congenital, with Excess of Thin Myofilaments (C563529)
..Nemaline myopathy 1 (C538348)
..NEMALINE MYOPATHY 10 (OMIM:616165)
..NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
..Nemaline Myopathy 2 (C538349)
..NEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, (OMIM:161800)
..Nemaline myopathy 4 (C538351)
..Nemaline myopathy 5 (C538397)
..Nemaline myopathy 6 (C538398)
..Nemaline Myopathy 7 (C565198)
..NEMALINE MYOPATHY 8 (OMIM:615348)
..NEMALINE MYOPATHY 9 (OMIM:615731)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8619

Name:

Nemaline myopathy 1

Definition:

Alternative IDs:

OMIM:609284

ParentIDs:

MESH:D017696

TreeNumbers:

C05.651.575.290/C538348 |C10.668.491.550.290/C538348

Synonyms:

CAPM1, INCLUDED |CAP MYOPATHY 1, INCLUDED |Cap Myopathy, Tpm3-Related |NEM1 |Nemaline myopathy caused by mutation in the tropomyosin 3 gene

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C538348
MeSH: C538348
OMIM: 609284;
MSeqDR :
Genes: TPM3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003621	Juvenile onset
4	HP:0008944	Distal lower limb amyotrophy
5	HP:0009053	Distal lower limb muscle weakness
6	HP:0002015	Dysphagia NAMDC: Dysphagia
7	HP:0003458	EMG: myopathic abnormalities
8	HP:0001349	Facial diplegia
9	HP:0001371	Flexion contracture
10	HP:0003324	Generalized muscle weakness
11	HP:0001425	Heterogeneous
12	HP:0000218	High palate
13	HP:0000276	Long face
14	HP:0001270	Motor delay
15	HP:0000275	Narrow face
16	HP:0000467	Neck muscle weakness
17	HP:0003798	Nemaline bodies
18	HP:0000767	Pectus excavatum
19	HP:0001761	Pes cavus
20	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
21	HP:0002093	Respiratory insufficiency
22	HP:0002650	Scoliosis
23	HP:0003724	Shoulder girdle muscle atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_152263.4(TPM3):c.*6097G>T	7170	TPM3	Uncertain significance	576691614	RCV001099591\|RCV001099592;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134316	154134316	1:g.154134316C>A	-
NM_152263.4(TPM3):c.*5926T>C	7170	TPM3	Uncertain significance	886045285	RCV000309834\|RCV000343709;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154134487	154134487	1:g.154134487A>G	ClinGen:CA10608206	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*5901G>C	7170	TPM3	Uncertain significance	1287850337	RCV001101567\|RCV001101568;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134512	154134512	1:g.154134512C>G	-
NM_152263.4(TPM3):c.*5870A>T	7170	TPM3	Uncertain significance	890715632	RCV001101569\|RCV001101570;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134543	154134543	1:g.154134543T>A	-
NM_152263.4(TPM3):c.*5865A>G	7170	TPM3	Uncertain significance	1159409765	RCV001101571\|RCV001101572;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134548	154134548	1:g.154134548T>C	-
NM_152263.4(TPM3):c.*5795C>T	7170	TPM3	Uncertain significance	981377315	RCV001096148\|RCV001096149;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154134618	154134618	1:g.154134618G>A	-
NM_152263.4(TPM3):c.*5755A>G	7170	TPM3	Uncertain significance	777522493	RCV000264883\|RCV000361856;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134658	154134658	1:g.154134658T>C	ClinGen:CA10607841	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*5715C>T	7170	TPM3	Uncertain significance	527401847	RCV001097893\|RCV001096150;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134698	154134698	1:g.154134698G>A	-
NM_152263.4(TPM3):c.*5701C>T	7170	TPM3	Likely benign	373631033	RCV000303514\|RCV000356007;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134712	154134712	1:g.154134712G>A	ClinGen:CA10608143	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*5658G>A	7170	TPM3	Uncertain significance	547577437	RCV001097895\|RCV001097894;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134755	154134755	1:g.154134755C>T	-
NM_152263.4(TPM3):c.*5640C>T	7170	TPM3	Conflicting interpretations of pathogenicity	564296987	RCV001097896\|RCV001097897;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134773	154134773	1:g.154134773G>A	-
NM_152263.4(TPM3):c.*5594G>T	7170	TPM3	Conflicting interpretations of pathogenicity	550606876	RCV000263606\|RCV000316425;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154134819	154134819	1:g.154134819C>A	ClinGen:CA10607842	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*5583C>T	7170	TPM3	Uncertain significance	886045286	RCV000276339\|RCV000373200;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134830	154134830	1:g.154134830G>A	ClinGen:CA10608145	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*5500C>G	7170	TPM3	Uncertain significance	973966350	RCV001099690\|RCV001101675;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134913	154134913	1:g.154134913G>C	-
NM_152263.4(TPM3):c.*5440A>C	7170	TPM3	Uncertain significance	12064494	RCV000283299\|RCV000340609;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154134973	154134973	1:g.154134973T>G	ClinGen:CA10607849	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*5437G>A	7170	TPM3	Uncertain significance	929840818	RCV001101676\|RCV001101677;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154134976	154134976	1:g.154134976C>T	-
NM_152263.4(TPM3):c.*5406A>G	7170	TPM3	Uncertain significance	1039422203	RCV001101679\|RCV001101678;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135007	154135007	1:g.154135007T>C	-
NM_152263.4(TPM3):c.*5266T>G	7170	TPM3	Uncertain significance	143097126	RCV001096243\|RCV001096244;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135147	154135147	1:g.154135147A>C	-
NM_152263.4(TPM3):c.*5239C>T	7170	TPM3	Uncertain significance	1020851805	RCV001096245\|RCV001096246;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135174	154135174	1:g.154135174G>A	-
NM_152263.4(TPM3):c.*5204C>T	7170	TPM3	Uncertain significance	1660513178	RCV001097996\|RCV001096247;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135209	154135209	1:g.154135209G>A	-
NM_152263.4(TPM3):c.*5149G>A	7170	TPM3	Benign/Likely benign	78002555	RCV001097998\|RCV001097997;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135264	154135264	1:g.154135264C>T	-
NM_152263.4(TPM3):c.*4940C>G	7170	TPM3	Likely benign	562373211	RCV000313632\|RCV000370622;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135473	154135473	1:g.154135473G>C	ClinGen:CA10608208	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4930G>A	7170	TPM3	Uncertain significance	995544936	RCV001101764\|RCV001101763;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135483	154135483	1:g.154135483C>T	-
NM_152263.4(TPM3):c.*4924C>T	7170	TPM3	Uncertain significance	1036320708	RCV001101766\|RCV001101765;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135489	154135489	1:g.154135489G>A	-
NM_152263.4(TPM3):c.*4876C>T	7170	TPM3	Likely benign	141628385	RCV001101767\|RCV001101768;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135537	154135537	1:g.154135537G>A	-
NM_152263.4(TPM3):c.*4872A>G	7170	TPM3	Uncertain significance	1660550689	RCV001101769\|RCV001096348;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135541	154135541	1:g.154135541T>C	-
NM_152263.4(TPM3):c.*4806A>C	7170	TPM3	Uncertain significance	186291812	RCV001096349\|RCV001096350;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135607	154135607	1:g.154135607T>G	-
NM_152263.4(TPM3):c.*4636G>A	7170	TPM3	Uncertain significance	886045292	RCV000273661\|RCV000331099;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135777	154135777	1:g.154135777C>T	ClinGen:CA10607850	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4541T>A	7170	TPM3	Uncertain significance	886045294	RCV000325751\|RCV000382644;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135872	154135872	1:g.154135872A>T	ClinGen:CA10608209	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4525G>T	7170	TPM3	Uncertain significance	886045295	RCV000285702\|RCV000324386;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135888	154135888	1:g.154135888C>A	ClinGen:CA10607851	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4513G>A	7170	TPM3	Uncertain significance	886045296	RCV000284647\|RCV000376692;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135900	154135900	1:g.154135900C>T	ClinGen:CA10607696	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4443G>T	7170	TPM3	Uncertain significance	139123540	RCV001098089\|RCV001099878;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154135970	154135970	1:g.154135970C>A	-
NM_152263.4(TPM3):c.*4423G>A	7170	TPM3	Uncertain significance	373468102	RCV001099879\|RCV001099880;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154135990	154135990	1:g.154135990C>T	-
NM_152263.4(TPM3):c.*4389G>T	7170	TPM3	Uncertain significance	886045297	RCV000337593\|RCV000404684;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136024	154136024	1:g.154136024C>A	ClinGen:CA10607853	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4302A>G	7170	TPM3	Uncertain significance	886045298	RCV000315462\|RCV000396908;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136111	154136111	NC_000001.10:g.154136111T>C	ClinGen:CA10607697	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4287A>G	7170	TPM3	Uncertain significance	1383649289	RCV001096441\|RCV001101873;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136126	154136126	1:g.154136126T>C	-
NM_152263.4(TPM3):c.*4194G>A	7170	TPM3	Uncertain significance	886045300	RCV000309732\|RCV000362156;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154136219	154136219	NC_000001.10:g.154136219C>T	ClinGen:CA10608218	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*4154C>T	7170	TPM3	Benign/Likely benign	145053113	RCV001096442\|RCV001098179;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154136259	154136259	1:g.154136259G>A	-
NM_152263.4(TPM3):c.*4095G>A	7170	TPM3	Uncertain significance	559852699	RCV001098180\|RCV001098181;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136318	154136318	1:g.154136318C>T	-
NM_152263.4(TPM3):c.*4062G>A	7170	TPM3	Benign/Likely benign	140590273	RCV001098182\|RCV001098183;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154136351	154136351	1:g.154136351C>T	-
NM_152263.4(TPM3):c.*3872T>C	7170	TPM3	Uncertain significance	1571372689	RCV001099962\|RCV001099961;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154136541	154136541	1:g.154136541A>G	-
NM_152263.4(TPM3):c.*3860C>T	7170	TPM3	Uncertain significance	763202740	RCV000272097\|RCV000322416;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136553	154136553	NC_000001.10:g.154136553G>A	ClinGen:CA10607698	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*3819G>A	7170	TPM3	Uncertain significance	190553185	RCV001101969\|RCV001101970;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154136594	154136594	1:g.154136594C>T	-
NM_152263.4(TPM3):c.*3807G>T	7170	TPM3	Uncertain significance	886045301	RCV000323477\|RCV000373488;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136606	154136606	NC_000001.10:g.154136606C>A	ClinGen:CA10608163	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*3756C>A	7170	TPM3	Uncertain significance	555633635	RCV000294149\|RCV000374560;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136657	154136657	NC_000001.10:g.154136657G>T	ClinGen:CA10608219	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*3558G>A	7170	TPM3	Uncertain significance	886045302	RCV000348815\|RCV000389398;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136855	154136855	NC_000001.10:g.154136855C>T	ClinGen:CA10607854	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*3497T>C	7170	TPM3	Benign/Likely benign	144544045	RCV001096558\|RCV001096557;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154136916	154136916	1:g.154136916A>G	-
NM_152263.4(TPM3):c.*3481C>T	7170	TPM3	Uncertain significance	753333464	RCV001096559\|RCV001096560;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154136932	154136932	1:g.154136932G>A	-
NM_152263.4(TPM3):c.*3298A>G	7170	TPM3	Uncertain significance	946669485	RCV001096561\|RCV001096562;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137115	154137115	1:g.154137115T>C	-
NM_152263.4(TPM3):c.*3015G>A	7170	TPM3	Uncertain significance	1207872451	RCV001098297\|RCV001098296;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137398	154137398	1:g.154137398C>T	-
NM_152263.4(TPM3):c.*2774G>C	7170	TPM3	Uncertain significance	886045303	RCV000346212\|RCV000396429;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154137639	154137639	NC_000001.10:g.154137639C>G	ClinGen:CA10608223	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2757C>G	7170	TPM3	Uncertain significance	897434039	RCV001100061\|RCV001100062;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137656	154137656	1:g.154137656G>C	-
NM_152263.4(TPM3):c.*2675T>C	7170	TPM3	Uncertain significance	886045304	RCV000266842\|RCV000298599;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137738	154137738	NC_000001.10:g.154137738A>G	ClinGen:CA10608167	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2652C>T	7170	TPM3	Uncertain significance	555966358	RCV001102061\|RCV001102062;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137761	154137761	1:g.154137761G>A	-
NM_152263.4(TPM3):c.*2630T>A	7170	TPM3	Uncertain significance	767983989	RCV001102064\|RCV001102063;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137783	154137783	1:g.154137783A>T	-
NM_152263.4(TPM3):c.*2597G>T	7170	TPM3	Uncertain significance	886045305	RCV000263296\|RCV000352895;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154137816	154137816	NC_000001.10:g.154137816C>A	ClinGen:CA10608171	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2544C>T	7170	TPM3	Uncertain significance	968828245	RCV001096659\|RCV001096660;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137869	154137869	1:g.154137869G>A	-
NM_152263.4(TPM3):c.*2423G>A	7170	TPM3	Uncertain significance	1243423616	RCV001096661\|RCV001098386;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154137990	154137990	1:g.154137990C>T	-
NM_152263.4(TPM3):c.*2409G>C	7170	TPM3	Benign	142369480	RCV000273744\|RCV000333508;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138004	154138004	NC_000001.10:g.154138004C>G	ClinGen:CA10607721	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2298T>C	7170	TPM3	Uncertain significance	201157203	RCV000288959\|RCV000387919;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138115	154138115	NC_000001.10:g.154138115A>G	ClinGen:CA10607860	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2295T>C	7170	TPM3	Uncertain significance	1261513379	RCV001098388\|RCV001098387;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154138118	154138118	1:g.154138118A>G	-
NM_152263.4(TPM3):c.*2240C>T	7170	TPM3	Uncertain significance	561949016	RCV000347844\|RCV000383713;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138173	154138173	NC_000001.10:g.154138173G>A	ClinGen:CA10608224	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2220T>C	7170	TPM3	Uncertain significance	886045306	RCV000284719\|RCV000339762;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138193	154138193	NC_000001.10:g.154138193A>G	ClinGen:CA10608225	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2152C>T	7170	TPM3	Uncertain significance	1363684144	RCV001102161\|RCV001102162;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138261	154138261	1:g.154138261G>A	-
NM_152263.4(TPM3):c.*2138T>C	7170	TPM3	Likely benign	566002553	RCV000275511\|RCV000311847;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154138275	154138275	NC_000001.10:g.154138275A>G	ClinGen:CA10608236	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2116T>C	7170	TPM3	Uncertain significance	886045307	RCV000327147\|RCV000363217;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138297	154138297	1:g.154138297A>G	ClinGen:CA10607861	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2101T>C	7170	TPM3	Uncertain significance	151275058	RCV001096742\|RCV001096743;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138312	154138312	1:g.154138312A>G	-
NM_152263.4(TPM3):c.*2069C>T	7170	TPM3	Benign	140536164	RCV000273331\|RCV000328374;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138344	154138344	1:g.154138344G>A	ClinGen:CA10607867	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2053G>C	7170	TPM3	Uncertain significance	969372773	RCV001096744\|RCV001096745;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154138360	154138360	1:g.154138360C>G	-
NM_152263.4(TPM3):c.*2035C>T	7170	TPM3	Uncertain significance	886045308	RCV000283803\|RCV000378279;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154138378	154138378	1:g.154138378G>A	ClinGen:CA10608172	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*2015T>C	7170	TPM3	Uncertain significance	758111582	RCV001098482\|RCV001098483;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138398	154138398	1:g.154138398A>G	-
NM_152263.4(TPM3):c.*1967C>T	7170	TPM3	Uncertain significance	910205963	RCV001098484\|RCV001098485;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154138446	154138446	1:g.154138446G>A	-
NM_152263.4(TPM3):c.*1964A>G	7170	TPM3	Uncertain significance	886045309	RCV000324760\|RCV000379316;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138449	154138449	1:g.154138449T>C	ClinGen:CA10608173	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1791G>A	7170	TPM3	Benign	114799756	RCV000280209\|RCV000335222;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138622	154138622	1:g.154138622C>T	ClinGen:CA10607724	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1661C>T	7170	TPM3	Uncertain significance	575927755	RCV000281141\|RCV000404225;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138752	154138752	1:g.154138752G>A	ClinGen:CA10608177	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1652G>A	7170	TPM3	Uncertain significance	543538969	RCV001100250\|RCV001100249;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154138761	154138761	1:g.154138761C>T	-
NM_152263.4(TPM3):c.*1521G>T	7170	TPM3	Uncertain significance	949522786	RCV001100251\|RCV001100252;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138892	154138892	1:g.154138892C>A	-
NM_152263.4(TPM3):c.*1447G>A	7170	TPM3	Uncertain significance	1005684992	RCV001100253\|RCV001102240;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154138966	154138966	1:g.154138966C>T	-
NM_152263.4(TPM3):c.*1397A>G	7170	TPM3	Uncertain significance	1660988364	RCV001102241\|RCV001102242;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139016	154139016	1:g.154139016T>C	-
NM_152263.4(TPM3):c.*1359G>T	7170	TPM3	Uncertain significance	563700738	RCV001102243\|RCV001102244;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139054	154139054	1:g.154139054C>A	-
NM_152263.4(TPM3):c.*1291A>G	7170	TPM3	Benign	375670563	RCV000350223\|RCV000398191;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139122	154139122	1:g.154139122T>C	ClinGen:CA10607726	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1152C>T	7170	TPM3	Conflicting interpretations of pathogenicity	535068015	RCV000265463\|RCV000364785;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139261	154139261	1:g.154139261G>A	ClinGen:CA10607729	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1130C>T	7170	TPM3	Benign/Likely benign	143058197	RCV001096833\|RCV001096832;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139283	154139283	1:g.154139283G>A	-
NM_152263.4(TPM3):c.*1097C>T	7170	TPM3	Uncertain significance	886045310	RCV000320645\|RCV000361308;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139316	154139316	1:g.154139316G>A	ClinGen:CA10607872	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1093T>C	7170	TPM3	Uncertain significance	886045311	RCV000266765\|RCV000317276;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139320	154139320	1:g.154139320A>G	ClinGen:CA10607874	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*1077A>C	7170	TPM3	Conflicting interpretations of pathogenicity	557217738	RCV001096834\|RCV001098594;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139336	154139336	1:g.154139336T>G	-
NM_152263.4(TPM3):c.*999G>A	7170	TPM3	Uncertain significance	565913061	RCV000318477\|RCV000386965;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139414	154139414	1:g.154139414C>T	ClinGen:CA10607875	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*974C>T	7170	TPM3	Uncertain significance	534731616	RCV001098595\|RCV001100363;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139439	154139439	1:g.154139439G>A	-
NM_152263.4(TPM3):c.*962C>T	7170	TPM3	Uncertain significance	564047493	RCV001100364\|RCV001100365;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139451	154139451	1:g.154139451G>A	-
NM_152263.4(TPM3):c.*958C>T	7170	TPM3	Uncertain significance	577888532	RCV000292573\|RCV000352176;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139455	154139455	1:g.154139455G>A	ClinGen:CA10608194	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*903C>T	7170	TPM3	Uncertain significance	545353984	RCV000288881\|RCV000403007;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139510	154139510	1:g.154139510G>A	ClinGen:CA10607736	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*878A>G	7170	TPM3	Benign/Likely benign	116789181	RCV001100366\|RCV001102341;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139535	154139535	1:g.154139535T>C	-
NM_152263.4(TPM3):c.*780A>G	7170	TPM3	Likely benign	185779007	RCV001102342\|RCV001102343;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139633	154139633	1:g.154139633T>C	-
NM_152263.4(TPM3):c.*656C>T	7170	TPM3	Uncertain significance	12064261	RCV001102344\|RCV001102345;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139757	154139757	1:g.154139757G>A	-
NM_152263.4(TPM3):c.*499C>A	7170	TPM3	Uncertain significance	745782085	RCV001102346\|RCV001102347;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139914	154139914	1:g.154139914G>T	-
NM_152263.4(TPM3):c.*489T>G	7170	TPM3	Uncertain significance	886045312	RCV000343975\|RCV000403250;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154139924	154139924	1:g.154139924A>C	ClinGen:CA10607742	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*482C>T	7170	TPM3	Uncertain significance	886045313	RCV000309310\|RCV000359428;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154139931	154139931	1:g.154139931G>A	ClinGen:CA10608197	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*406T>C	7170	TPM3	Uncertain significance	886045314	RCV000305662\|RCV000396346;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154140007	154140007	1:g.154140007A>G	ClinGen:CA10607747	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*325G>A	7170	TPM3	Uncertain significance	886045315	RCV000297571\|RCV000357154;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140088	154140088	NC_000001.10:g.154140088C>T	ClinGen:CA10607750	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*312A>G	7170	TPM3	Uncertain significance	1251165733	RCV001098688\|RCV001098687;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140101	154140101	1:g.154140101T>C	-
NM_152263.4(TPM3):c.*303A>C	7170	TPM3	Uncertain significance	555108967	RCV001098689\|RCV001098690;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140110	154140110	1:g.154140110T>G	-
NM_152263.4(TPM3):c.*283G>C	7170	TPM3	Uncertain significance	886045316	RCV000262529\|RCV000331643;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140130	154140130	NC_000001.10:g.154140130C>G	ClinGen:CA10607751	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*254G>A	7170	TPM3	Uncertain significance	1286827899	RCV001100496\|RCV001100495;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140159	154140159	1:g.154140159C>T	-
NM_152263.4(TPM3):c.*157C>T	7170	TPM3	Conflicting interpretations of pathogenicity	144482403	RCV001100497\|RCV001100498;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154140256	154140256	1:g.154140256G>A	-
NM_152263.4(TPM3):c.*88G>T	7170	TPM3	Uncertain significance	1306456266	RCV001100499\|RCV001100500;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140325	154140325	1:g.154140325C>A	-
NM_152263.4(TPM3):c.*61C>A	7170	TPM3	Uncertain significance	886045317	RCV000277908\|RCV000386279;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140352	154140352	NC_000001.10:g.154140352G>T	ClinGen:CA10608198	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*46C>T	7170	TPM3	Uncertain significance	777118586	RCV000332941\|RCV000382898;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140367	154140367	NC_000001.10:g.154140367G>A	ClinGen:CA1125477	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*41C>G	7170	TPM3	Uncertain significance	886045318	RCV000288635\|RCV000345908;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154140372	154140372	NC_000001.10:g.154140372G>C	ClinGen:CA10608200	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.*32C>T	7170	TPM3	Uncertain significance	141699072	RCV001102449\|RCV001102448;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140381	154140381	1:g.154140381G>A	-
NC_000001.10:g.(?_154140413)_(154164494_?)dup	7170	TPM3	Uncertain significance	-1	RCV001941296;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154140413	154164494	-1	-
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)	7170	TPM3	Likely pathogenic	199474720	RCV000013260\|RCV000128708\|RCV000707046;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:	1	154140414	154140414	1:g.154140414T>G	ClinGen:CA232703,OMIM:191030.0002	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?)	7170	TPM3	Pathogenic	199474719	RCV000013266\|RCV000128707;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900	1	154140416	154140416	1:g.154140416_154140416del	ClinGen:CA232702,OMIM:191030.0006	C1836448 609284 Nemaline myopathy 1;
NM_152263.4(TPM3):c.855-1G>A	7170	TPM3	Uncertain significance	113605263	RCV000013261\|RCV000128706\|RCV000689419;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:	1	154140417	154140417	1:g.154140417C>T	ClinGen:CA232701,OMIM:191030.0003	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.855-6A>T	7170	TPM3	Likely benign	2148221842	RCV002071110;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154140422	154140422	154140422	-
NM_152263.4(TPM3):c.855-8T>A	7170	TPM3	Likely benign	-1	RCV003043525;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154140424	154140424	NC_000001.10:g.154140424A>T	-
NM_152263.4(TPM3):c.854+20G>A	7170	TPM3	Likely benign	1300002756	RCV002134885;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141761	154141761	154141761	-
NM_152263.4(TPM3):c.854+8T>C	7170	TPM3	Likely benign	-1	RCV002620273;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141773	154141773	NC_000001.10:g.154141773A>G	-
NM_152263.4(TPM3):c.854+1G>A	7170	TPM3	Uncertain significance	113367027	RCV001328659;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141780	154141780	154141780	-
NM_152263.4(TPM3):c.853A>G (p.Ile285Val)	7170	TPM3	Uncertain significance	758557977	RCV001349509\|RCV003136016;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900	1	154141782	154141782	154141782	-
NM_152263.4(TPM3):c.849C>T (p.Thr283=)	7170	TPM3	Likely benign	758366885	RCV001415748;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141786	154141786	154141786	-
NM_152263.4(TPM3):c.844A>G (p.Met282Val)	7170	TPM3	Uncertain significance	1661325667	RCV002028696\|RCV002290833;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141791	154141791	154141791	-
NM_152263.4(TPM3):c.835C>G (p.Leu279Val)	7170	TPM3	Uncertain significance	186253666	RCV001242707\|RCV003142212;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900	1	154141800	154141800	1:g.154141800G>C	-
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr)	7170	TPM3	Uncertain significance	377438824	RCV001374353;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141803	154141803	154141803	-
NM_152263.4(TPM3):c.831C>T (p.His277=)	7170	TPM3	Conflicting interpretations of pathogenicity	781032589	RCV000415940\|RCV001418356;	N	MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141804	154141804	1:g.154141804G>A	ClinGen:CA1125504	CN517202 not provided;
NM_152263.4(TPM3):c.829C>A (p.His277Asn)	7170	TPM3	Uncertain significance	747794605	RCV001224271\|RCV003142183;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900	1	154141806	154141806	1:g.154141806G>T	-
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg)	7170	TPM3	Uncertain significance	536564074	RCV001218473;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141819	154141819	1:g.154141819G>C	-
NM_152263.4(TPM3):c.816C>T (p.Ser272=)	7170	TPM3	Uncertain significance	536564074	RCV001939983;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141819	154141819	154141819	-
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)	7170	TPM3	Conflicting interpretations of pathogenicity	762511246	RCV000285057\|RCV000377153\|RCV002059332;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO	1	154141831	154141831	NC_000001.10:g.154141831G>A	ClinGen:CA1125508	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.796C>T (p.Leu266=)	7170	TPM3	Likely benign	189530777	RCV001422520;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141839	154141839	154141839	-
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly)	7170	TPM3	Uncertain significance	1455676920	RCV000539360;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141847	154141847	1:g.154141847G>C	ClinGen:CA342582763	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.780G>A (p.Glu260=)	7170	TPM3	Likely benign	1661333585	RCV001502454;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141855	154141855	154141855	-
NM_152263.4(TPM3):c.777T>C (p.Asp259=)	7170	TPM3	Likely benign	767812868	RCV001457397;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141858	154141858	154141858	-
NM_152263.4(TPM3):c.776-6G>A	7170	TPM3	Likely benign	-1	RCV003065607;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141865	154141865	NC_000001.10:g.154141865C>T	-
NM_152263.4(TPM3):c.776-8C>T	7170	TPM3	Likely benign	760834004	RCV000603742\|RCV000960728;	N	MedGen:CN169374\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141867	154141867	1:g.154141867G>A	ClinGen:CA1125514	CN169374 not specified;
NM_152263.4(TPM3):c.776-14C>T	7170	TPM3	Uncertain significance	943685377	RCV001097045\|RCV001097046;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141873	154141873	1:g.154141873G>A	-
NM_152263.4(TPM3):c.776-15C>T	7170	TPM3	Likely benign	-1	RCV002726587;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154141874	154141874	NC_000001.10:g.154141874G>A	-
NM_152263.4(TPM3):c.776-49T>C	7170	TPM3	Benign	4845364	RCV000246581\|RCV000829388\|RCV001838604\|RCV001838605;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154141908	154141908	NC_000001.10:g.154141908A>G	ClinGen:CA1125520	CN169374 not specified;
NM_152263.4(TPM3):c.377+863_775+422del	7170	TPM3	Likely pathogenic	-1	RCV001251175;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154142454	154147728	1:g.154142454_154142552del	-
NM_152263.4(TPM3):c.775+7A>G	7170	TPM3	Likely benign	-1	RCV002726350;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142869	154142869	NC_000001.10:g.154142869T>C	-
NM_152263.4(TPM3):c.775+6G>T	7170	TPM3	Uncertain significance	-1	RCV002923195;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142870	154142870	NC_000001.10:g.154142870C>A	-
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)	7170	TPM3	Uncertain significance	761036509	RCV000801663;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142890	154142890	1:g.154142890A>G	-
NM_152263.4(TPM3):c.760A>G (p.Ile254Val)	7170	TPM3	Uncertain significance	1553248513	RCV000637289;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142891	154142891	1:g.154142891T>C	ClinGen:CA342582848	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)	7170	TPM3	Pathogenic	1553248515	RCV000524673;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154142893	154142893	1:g.154142893G>T	ClinGen:CA342582852	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.753A>G (p.Glu251=)	7170	TPM3	Likely benign	-1	RCV002627575;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142898	154142898		-
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu)	7170	TPM3	Uncertain significance	1553248522	RCV000637288\|RCV001564368;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900	1	154142914	154142914	1:g.154142914G>A	ClinGen:CA342582897	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.716G>A (p.Arg239His)	7170	TPM3	Uncertain significance	-1	RCV003090123;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142935	154142935	NC_000001.10:g.154142935C>T	-
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys)	7170	TPM3	Uncertain significance	1661445206	RCV001312798\|RCV003223719;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310	1	154142942	154142942	154142942	OMIM:191030.0013
NM_152263.4(TPM3):c.706-2dup	7170	TPM3	Uncertain significance	1085307588	RCV000489009\|RCV001324618;	N	MedGen:CN169374\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142946	154142947	NC_000001.10:g.154142947dup	ClinGen:CA645293788	CN169374 not specified;
NM_152263.4(TPM3):c.706-3C>T	7170	TPM3	Uncertain significance	750493083	RCV001245085;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154142948	154142948	1:g.154142948G>A	-
NM_152263.4(TPM3):c.706-4C>T	7170	TPM3	Likely benign	2148231499	RCV001459760;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142949	154142949	154142949	-
NM_152263.4(TPM3):c.706-5C>G	7170	TPM3	Likely benign	-1	RCV003060702;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142950	154142950	NC_000001.10:g.154142950G>C	-
NM_152263.4(TPM3):c.706-6C>T	7170	TPM3	Uncertain significance	1661447571	RCV001338672;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142951	154142951	154142951	-
NM_152263.4(TPM3):c.706-8T>G	7170	TPM3	Likely benign	1273121877	RCV002122544;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154142953	154142953	154142953	-
NM_152263.4(TPM3):c.706-9T>A	7170	TPM3	Likely benign	931328025	RCV001499749;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154142954	154142954	1:g.154142954A>T	ClinGen:CA1125540	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.706-11A>G	7170	TPM3	Likely benign	752438266	RCV002182564;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154142956	154142956	154142956	-
NM_152263.4(TPM3):c.706-13A>G	7170	TPM3	Likely benign	-1	RCV002949549;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154142958	154142958	NC_000001.10:g.154142958T>C	-
NM_152263.4(TPM3):c.705+19T>C	7170	TPM3	Likely benign	765448962	RCV002125142;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143106	154143106	154143106	-
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg)	7170	TPM3	Uncertain significance	201202440	RCV001949895;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154143150	154143150	154143150	-
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)	7170	TPM3	Uncertain significance	142817656	RCV000807798\|RCV003141813;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900	1	154143165	154143165	1:g.154143165T>A	-
NM_152263.4(TPM3):c.643-3C>T	7170	TPM3	Conflicting interpretations of pathogenicity	529845435	RCV000606959\|RCV003139912\|RCV001860277;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154143190	154143190	1:g.154143190G>A	ClinGen:CA1125562	CN169374 not specified;
NM_152263.4(TPM3):c.642+4G>T	7170	TPM3	Uncertain significance	1462764945	RCV001042953;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143885	154143885	1:g.154143885C>A	-
NM_152263.4(TPM3):c.642+2T>C	7170	TPM3	Uncertain significance	-1	RCV002581536\|RCV003138517;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900	1	154143887	154143887	NC_000001.10:g.154143887A>G	-
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)	7170	TPM3	Uncertain significance	-1	RCV003077879;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143896	154143896	NC_000001.10:g.154143896G>A	-
NM_152263.4(TPM3):c.621T>G (p.Ser207=)	7170	TPM3	Likely benign	-1	RCV002914641;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143910	154143910		-
NM_152263.4(TPM3):c.615C>G (p.Leu205=)	7170	TPM3	Likely benign	1131561	RCV002133971;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143916	154143916	154143916	-
NM_152263.4(TPM3):c.591G>A (p.Glu197=)	7170	TPM3	Likely benign	-1	RCV002628219;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143940	154143940		-
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met)	7170	TPM3	Uncertain significance	2148235398	RCV001895883;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154143941	154143942	154143941	-
NM_152263.4(TPM3):c.567-4A>C	7170	TPM3	Uncertain significance	199517163	RCV000706350\|RCV001097047\|RCV001097048;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO	1	154143968	154143968	1:g.154143968T>G	-	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.566+18C>G	7170	TPM3	Benign/Likely benign	111368844	RCV000251222\|RCV002058419;	N	MedGen:CN169374\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145366	154145366	NC_000001.10:g.154145366G>C	ClinGen:CA1125682	CN169374 not specified;
NM_152263.4(TPM3):c.566+13C>T	7170	TPM3	Likely benign	-1	RCV002806645;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145371	154145371	NC_000001.10:g.154145371G>A	-
NM_152263.4(TPM3):c.556C>T (p.Leu186=)	7170	TPM3	Likely benign	1203258070	RCV001479633;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145394	154145394	1:g.154145394G>A	-
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)	7170	TPM3	Conflicting interpretations of pathogenicity	727504181	RCV000154017\|RCV002514966\|RCV002516101;	N	MedGen:C3661900\|MONDO:MONDO:0100108,MedGen:CN323193\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145403	154145403	1:g.154145403G>A	ClinGen:CA235008	CN517202 not provided;
NM_152263.4(TPM3):c.546A>G (p.Glu182=)	7170	TPM3	Likely benign	762856025	RCV002094824;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145404	154145404	154145404	-
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)	7170	TPM3	Uncertain significance	-1	RCV002741208;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145432	154145432	NC_000001.10:g.154145432A>T	-
NM_152263.4(TPM3):c.503G>A (p.Arg168His)	7170	TPM3	Pathogenic	121964852	RCV000013263\|RCV000054415\|RCV000128701\|RCV000537032\|RCV001420249;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310\|MedGen:C3661900\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:60	1	154145447	154145447	1:g.154145447C>T	ClinGen:CA144541,UniProtKB:P06753#VAR_070069,OMIM:191030.0005	C3714994 Cap myopathy 1;
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)	7170	TPM3	Pathogenic/Likely pathogenic	121964854	RCV000013268\|RCV000128699\|RCV000226212\|RCV001382225\|RCV003151725;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:	1	154145448	154145448	NC_000001.10:g.154145448G>C	ClinGen:CA232686,UniProtKB:P06753#VAR_070068,OMIM:191030.0008
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)	7170	TPM3	Pathogenic	121964854	RCV000013269\|RCV000054416\|RCV000128700\|RCV000637291\|RCV000624745;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310\|MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264,Orphane	1	154145448	154145448	1:g.154145448G>A	ClinGen:CA144544,UniProtKB:P06753#VAR_070067,OMIM:191030.0009	C3714994 Cap myopathy 1;
NM_152263.4(TPM3):c.495+13C>T	7170	TPM3	Likely benign	2148241904	RCV002129441;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145547	154145547	154145547	-
NM_152263.4(TPM3):c.495+12T>G	7170	TPM3	Likely benign	-1	RCV003037239;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145548	154145548	NC_000001.10:g.154145548A>C	-
NM_152263.4(TPM3):c.495+10C>G	7170	TPM3	Likely benign	1043806769	RCV002077587;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145550	154145550	154145550	-
NM_152263.4(TPM3):c.495+9C>G	7170	TPM3	Likely benign	1661789594	RCV002203491;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145551	154145551	154145551	-
NM_152263.4(TPM3):c.495+7G>C	7170	TPM3	Conflicting interpretations of pathogenicity	749792884	RCV000342262\|RCV000390605\|RCV002059333;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO	1	154145553	154145553	NC_000001.10:g.154145553C>G	ClinGen:CA1125707	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly)	7170	TPM3	Uncertain significance	1661790334	RCV001045193;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145561	154145561	1:g.154145561T>C	-
NM_152263.4(TPM3):c.483G>A (p.Arg161=)	7170	TPM3	Likely benign	150586027	RCV000637293;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145572	154145572	1:g.154145572C>T	ClinGen:CA1125708	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu)	7170	TPM3	Uncertain significance	1030128563	RCV001253141;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145575	154145575	1:g.154145575A>T	-
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)	7170	TPM3	Uncertain significance	199474714	RCV000128698\|RCV001058975;	N	MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145589	154145589	1:g.154145589C>T	ClinGen:CA232682	CN517202 not provided;
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)	7170	TPM3	Pathogenic/Likely pathogenic	1553249076	RCV000522047\|RCV001857960;	N	MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145600	154145600	NC_000001.10:g.154145600G>A	ClinGen:CA342584351
NM_152263.4(TPM3):c.423G>A (p.Lys141=)	7170	TPM3	Likely benign	2148242145	RCV001445415;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145632	154145632	154145632	-
NM_152263.4(TPM3):c.412G>C (p.Asp138His)	7170	TPM3	Uncertain significance	2148242185	RCV002050193\|RCV003136193;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900	1	154145643	154145643	154145643	-
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)	7170	TPM3	Uncertain significance	769493959	RCV002021590;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145654	154145654	154145654	-
NM_152263.4(TPM3):c.378-11A>G	7170	TPM3	Likely benign	-1	RCV002904844;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154145688	154145688	NC_000001.10:g.154145688T>C	-
NM_152263.4(TPM3):c.378-13C>T	7170	TPM3	Conflicting interpretations of pathogenicity	367548433	RCV000297760\|RCV000336326\|RCV002059334;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO	1	154145690	154145690	NC_000001.10:g.154145690G>A	ClinGen:CA1125717	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.378-16G>T	7170	TPM3	Likely benign	2148242406	RCV002155920;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154145693	154145693	154145693	-
NM_152263.4(TPM3):c.340C>T (p.Leu114=)	7170	TPM3	Likely benign	760913266	RCV000433713\|RCV002522492;	N	MedGen:CN169374\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148628	154148628	1:g.154148628G>A	ClinGen:CA16603438	CN169374 not specified;
NM_152263.4(TPM3):c.329C>T (p.Ala110Val)	7170	TPM3	Uncertain significance	1558052023	RCV000761589;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148639	154148639	NC_000001.10:g.154148639G>A	-
NM_152263.4(TPM3):c.327T>G (p.Thr109=)	7170	TPM3	Conflicting interpretations of pathogenicity	764255899	RCV000301387\|RCV000394360\|RCV000875762;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO	1	154148641	154148641	NC_000001.10:g.154148641A>C	ClinGen:CA1125742	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.324C>T (p.Ala108=)	7170	TPM3	Uncertain significance	1034128909	RCV001098777\|RCV001098778;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148644	154148644	1:g.154148644G>A	-
NM_152263.4(TPM3):c.317G>A (p.Arg106His)	7170	TPM3	Uncertain significance	-1	RCV003080360;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148651	154148651	NC_000001.10:g.154148651C>T	-
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn)	7170	TPM3	Uncertain significance	2148257542	RCV001915555;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148667	154148667	154148667	-
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)	7170	TPM3	Likely pathogenic	121964853	RCV000637290;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148670	154148670	1:g.154148670G>C	ClinGen:CA342585012	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.273T>C (p.Arg91=)	7170	TPM3	Likely benign	974189739	RCV000936379;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148695	154148695	1:g.154148695A>G	-
NM_152263.4(TPM3):c.272G>A (p.Arg91His)	7170	TPM3	Likely pathogenic	-1	RCV003058660;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148696	154148696	NC_000001.10:g.154148696C>T	-
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)	7170	TPM3	Pathogenic	1571418855	RCV000808390;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148697	154148697	1:g.154148697G>A	-
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)	7170	TPM3	Likely pathogenic	1571418855	RCV002007718;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148697	154148697	154148697	-
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro)	7170	TPM3	Uncertain significance	1558052214	RCV000680129;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148706	154148706	1:g.154148706A>G	-	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]	7170	TPM3	Uncertain significance	-1	RCV002866762;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148711	154148712	NC_000001.10:g.154148715CAGCCT[3]	-
NM_152263.4(TPM3):c.249G>A (p.Glu83=)	7170	TPM3	Conflicting interpretations of pathogenicity	149765446	RCV001098779\|RCV001098780\|RCV002067751;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:	1	154148719	154148719	1:g.154148719C>T	-
NM_152263.4(TPM3):c.246T>C (p.Ala82=)	7170	TPM3	Likely benign	751578993	RCV001397965;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154148722	154148722	154148722	-
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)	7170	TPM3	Uncertain significance	-1	RCV002301406;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154148723	154148723	154148723	-
NC_000001.11:g.(?_154191166)_(154192038_?)del	7170	TPM3	Uncertain significance	-1	RCV000707976;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163642	154164514		-	C0546264 255310 Congenital myopathy with fiber type disproportion;
NC_000001.10:g.(?_154163642)_(154164494_?)del	7170	TPM3	Uncertain significance	-1	RCV001943283;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163642	154164494	-1	-
NM_152263.4(TPM3):c.243+11GA[2]	7170	TPM3	Conflicting interpretations of pathogenicity	146969764	RCV000254286\|RCV000367493\|RCV001722357\|RCV001795467\|RCV002058418;	N	MedGen:CN169374\|MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800, Orphanet:607\|MedGen:C3661900\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:1	1	154163646	154163647	NC_000001.10:g.154163647CT[2]	ClinGen:CA1125804	CN235628 Congenital fiber-type disproportion;
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)	7170	TPM3	Uncertain significance	-1	RCV002958170;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163670	154163670	NC_000001.10:g.154163670C>G	-
NM_152263.4(TPM3):c.234G>A (p.Lys78=)	7170	TPM3	Likely benign	888396890	RCV001500829;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163671	154163671	154163671	-
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del)	7170	TPM3	Uncertain significance	2148294430	RCV001898939;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163671	154163673	154163670	-
NM_152263.4(TPM3):c.231G>A (p.Lys77=)	7170	TPM3	Likely benign	761461964	RCV001405178;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163674	154163674	154163674	-
NM_152263.4(TPM3):c.228G>A (p.Glu76=)	7170	TPM3	Likely benign	765071258	RCV002074547;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163677	154163677	154163677	-
NM_152263.4(TPM3):c.212A>T (p.Lys71Met)	7170	TPM3	Uncertain significance	2148294477	RCV001362578;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163693	154163693	154163693	-
NM_152263.4(TPM3):c.210G>A (p.Glu70=)	7170	TPM3	Likely benign	767668245	RCV002181804;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163695	154163695	154163695	-
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)	7170	TPM3	Uncertain significance	-1	RCV003049176;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163712	154163720	NC_000001.10:g.154163714_154163722del	-
NM_152263.4(TPM3):c.175G>A (p.Asp59Asn)	7170	TPM3	Uncertain significance	-1	RCV003337948;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163730	154163730		-
NM_152263.4(TPM3):c.172C>T (p.Leu58=)	7170	TPM3	Likely benign	997905094	RCV002199269;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163733	154163733	154163733	-
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys)	7170	TPM3	Uncertain significance	2148294608	RCV001930062;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163742	154163742	154163742	-
NM_152263.4(TPM3):c.159G>A (p.Gly53=)	7170	TPM3	Likely benign	-1	RCV002867641;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163746	154163746		-
NM_152263.4(TPM3):c.144G>A (p.Gln48=)	7170	TPM3	Likely benign	765923858	RCV002060737;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163761	154163761	1:g.154163761C>T	ClinGen:CA1125813	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn)	7170	TPM3	Uncertain significance	1663671899	RCV001221817;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163781	154163781	1:g.154163781C>T	-
NM_152263.4(TPM3):c.118C>G (p.Leu40Val)	7170	TPM3	Uncertain significance	1160675914	RCV001899836;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163787	154163787	154163787	-
NM_152263.4(TPM3):c.118-3T>C	7170	TPM3	Uncertain significance	375206251	RCV002010061;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154163790	154163790	154163790	-
NM_152263.4(TPM3):c.118-11G>C	7170	TPM3	Likely benign	-1	RCV003029576;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163798	154163798	NC_000001.10:g.154163798C>G	-
NM_152263.4(TPM3):c.118-20G>C	7170	TPM3	Likely benign	-1	RCV003069039;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154163807	154163807	NC_000001.10:g.154163807C>G	-
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)	7170	TPM3	Pathogenic	80358248	RCV000013262\|RCV000128709;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900	1	154164401	154164401	1:g.154164401G>A	ClinGen:CA232705,OMIM:191030.0004	C1836448 609284 Nemaline myopathy 1;
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)	7170	TPM3	Benign/Likely benign	62000429	RCV000194376\|RCV000549857\|RCV001085350\|RCV001098781\|RCV001100612;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:17	1	154164403	154164403	1:g.154164403T>G	ClinGen:CA208516	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.87_91del (p.Gln30fs)	7170	TPM3	Uncertain significance	2148295371	RCV001884898;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154164404	154164408	154164403	-
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu)	7170	TPM3	Uncertain significance	1160965388	RCV002049102;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154164407	154164407	154164407	-
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala)	7170	TPM3	Uncertain significance	1049537934	RCV002013825;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164409	154164409	154164409	-
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys)	7170	TPM3	Uncertain significance	1663696530	RCV001218679;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164410	154164410	1:g.154164410C>T	-
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln)	7170	TPM3	Uncertain significance	1553251640	RCV000551766;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164430	154164430	1:g.154164430C>T	ClinGen:CA342587460	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.60G>A (p.Leu20=)	7170	TPM3	Likely benign	770751758	RCV001439008;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164435	154164435	154164435	-
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	7170	TPM3	Likely pathogenic	2148295444	RCV002014040;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154164451	154164451	154164451	-
NM_152263.4(TPM3):c.43G>C (p.Asp15His)	7170	TPM3	Conflicting interpretations of pathogenicity	1553251644	RCV000503601\|RCV000727596\|RCV000806717;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154164452	154164452	NC_000001.10:g.154164452C>G	ClinGen:CA342587512	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)	7170	TPM3	Likely pathogenic	1553251644	RCV000986418;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164452	154164452	1:g.154164452C>T	-
NM_152263.4(TPM3):c.36G>A (p.Leu12=)	7170	TPM3	Likely benign	748116674	RCV000605694\|RCV001414360;	N	MedGen:CN169374\|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154164459	154164459	1:g.154164459C>T	ClinGen:CA1125832	CN169374 not specified;
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)	7170	TPM3	Pathogenic	80358247	RCV000013259\|RCV000128695\|RCV003151723;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881\|MedGen:C3661900\|MONDO:MONDO:0800341,MedGen:CN178536,OMIM:255310	1	154164469	154164469	1:g.154164469A>C	ClinGen:CA232675,UniProtKB:P06753#VAR_013460,OMIM:191030.0001	C1836448 609284 Nemaline myopathy 1;
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)	7170	TPM3	Uncertain significance	-1	RCV002591622;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881; MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020	1	154164476	154164476	NC_000001.10:g.154164476T>C	-
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)	7170	TPM3	Uncertain significance	199474711	RCV000034941\|RCV000128693\|RCV001237893;	N	MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020\|MedGen:C3661900\|MONDO:MONDO:0009711,MedGen:C0546264, Orphanet:2020; MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164484	154164484	1:g.154164484G>A	ClinGen:CA232673,UniProtKB:P06753#VAR_071499	C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_152263.4(TPM3):c.8A>G (p.Glu3Gly)	7170	TPM3	Uncertain significance	-1	RCV002290131;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164487	154164487	154164487	-
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)	7170	TPM3	Likely pathogenic	1571456678	RCV000986419;	N	MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284, Orphanet:171433, Orphanet:171439, Orphanet:171881	1	154164488	154164488	1:g.154164488C>G	-

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