Myoz2 Variant Search Result - Rat Genome Database

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284 records found for search term Myoz2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
13527344	CV496752	single nucleotide variant	NM_016599.5(MYOZ2):c.-3A>G	Cardiovascular phenotype [RCV000619742]\|not specified [RCV000605656]	uncertain significance	4	119136523	119136523	Human		name
8608640	CV54943	duplication	NM_016599.5(MYOZ2):c.-3dup	Cardiomyopathy [RCV000769183]\|Cardiovascular phenotype [RCV000619179]\|Hypertrophic cardiomyopathy 16 [RCV000625398]\|not provided [RCV000590300]\|not specified [RCV000039002]	benign	4	119136516	119136517	Human	3	name
14688950	CV614905	single nucleotide variant	NM_016599.5(MYOZ2):c.*4G>T	Cardiomyopathy [RCV000770203]	uncertain significance	4	119186204	119186204	Human	2	name
150539340	CV1308683	single nucleotide variant	NM_016599.5(MYOZ2):c.*83A>G	not provided [RCV001766187]	likely benign	4	119186283	119186283	Human		name
8692148	CV142114	single nucleotide variant	NM_016599.5(MYOZ2):c.-42C>T	not specified [RCV000127069]	benign\|uncertain significance	4	119135955	119135955	Human		name
11587507	CV296884	single nucleotide variant	NM_016599.4(MYOZ2):c.*90A>T	Hypertrophic cardiomyopathy [RCV000295531]	uncertain significance	4	119186290	119186290	Human	1	name
12840221	CV367817	single nucleotide variant	NM_016599.5(MYOZ2):c.-41G>A	not specified [RCV000430272]	likely benign	4	119135956	119135956	Human		name
8568973	CV40445	single nucleotide variant	NM_016599.5(MYOZ2):c.-87A>G	not provided [RCV000024478]	likely benign\|not provided	4	119135910	119135910	Human		name
152105736	CV1559965	single nucleotide variant	NM_016599.5(MYOZ2):c.77-9G>A	Hypertrophic cardiomyopathy [RCV002133823]	likely benign	4	119150863	119150863	Human	2	name
152029073	CV1599584	single nucleotide variant	NM_016599.5(MYOZ2):c.76+8T>C	Hypertrophic cardiomyopathy [RCV002085679]\|not specified [RCV003323982]	likely benign\|uncertain significance	4	119136609	119136609	Human	2	name
152142944	CV1654535	duplication	NM_016599.5(MYOZ2):c.77-5dup	Cardiovascular phenotype [RCV002409608]\|Hypertrophic cardiomyopathy [RCV002200813]	benign\|likely benign	4	119150863	119150864	Human	2	name
11597089	CV293579	single nucleotide variant	NM_016599.4(MYOZ2):c.*412A>T	Hypertrophic cardiomyopathy [RCV000390130]	likely benign	4	119186612	119186612	Human	1	name
11652091	CV293583	single nucleotide variant	NM_016599.4(MYOZ2):c.*639G>A	Hypertrophic cardiomyopathy [RCV000302683]	uncertain significance	4	119186839	119186839	Human	1	name
11594684	CV293584	single nucleotide variant	NM_016599.4(MYOZ2):c.*908G>A	Hypertrophic cardiomyopathy [RCV000362043]	likely benign	4	119187108	119187108	Human	1	name
11593264	CV296888	single nucleotide variant	NM_016599.4(MYOZ2):c.*381C>A	Hypertrophic cardiomyopathy [RCV000347010]	likely benign	4	119186581	119186581	Human	1	name
150478909	CV1218868	single nucleotide variant	NM_016599.5(MYOZ2):c.76+96A>G	not provided [RCV001616496]	benign	4	119136697	119136697	Human		name
8692146	CV142112	single nucleotide variant	NM_016599.5(MYOZ2):c.76+19C>T	Hypertrophic cardiomyopathy 16 [RCV000625400]\|Hypertrophic cardiomyopathy [RCV002055694]\|not provided [RCV000587354]\|not specified [RCV000127066]	benign	4	119136620	119136620	Human	3	name
8692147	CV142113	single nucleotide variant	NM_016599.5(MYOZ2):c.76+20G>A	Hypertrophic cardiomyopathy 16 [RCV000615267]\|Hypertrophic cardiomyopathy [RCV002055695]\|not provided [RCV001701520]\|not specified [RCV000127067]	benign\|likely benign	4	119136621	119136621	Human	3	name
151852026	CV1448224	single nucleotide variant	NM_016599.5(MYOZ2):c.376+6C>T	Hypertrophic cardiomyopathy [RCV001922923]	uncertain significance	4	119158157	119158157	Human	2	name
152141573	CV1628965	single nucleotide variant	NM_016599.5(MYOZ2):c.561-6C>T	Hypertrophic cardiomyopathy [RCV002100848]	likely benign	4	119185960	119185960	Human	2	name
156001819	CV2119049	single nucleotide variant	NM_016599.5(MYOZ2):c.77-18A>G	Hypertrophic cardiomyopathy [RCV002975221]	likely benign	4	119150854	119150854	Human	2	name
10407135	CV212348	single nucleotide variant	NM_016599.5(MYOZ2):c.561-7C>T	Hypertrophic cardiomyopathy [RCV001421078]	likely benign	4	119185959	119185959	Human	2	name
10766689	CV217339	single nucleotide variant	NM_016599.5(MYOZ2):c.247-3C>T	Cardiovascular phenotype [RCV002453734]\|Hypertrophic cardiomyopathy [RCV000824163]\|MYOZ2-related disorder [RCV003955221]\|not specified [RCV000203613]	likely benign\|uncertain significance	4	119158019	119158019	Human	3	name , trait , alternate_id
12907298	CV227266	single nucleotide variant	NM_016599.5(MYOZ2):c.560+1G>T	Hypertrophic cardiomyopathy 16 [RCV000490268]	uncertain significance	4	119164395	119164395	Human	1	name
401873593	CV2793857	single nucleotide variant	NM_016599.5(MYOZ2):c.246+4G>A	Cardiovascular phenotype [RCV003382069]\|Hypertrophic cardiomyopathy [RCV005104243]	uncertain significance	4	119151045	119151045	Human	2	name
401873595	CV2793858	single nucleotide variant	NM_016599.5(MYOZ2):c.561-5C>T	Cardiovascular phenotype [RCV003382070]	uncertain significance	4	119185961	119185961	Human		name
11583013	CV292149	single nucleotide variant	NM_016599.4(MYOZ2):c.*1128G>A	Hypertrophic cardiomyopathy [RCV000263622]	likely benign	4	119187328	119187328	Human	1	name
11656415	CV292150	duplication	NM_016599.5(MYOZ2):c.*1262dup	Hypertrophic cardiomyopathy 16 [RCV002480209]\|Hypertrophic cardiomyopathy [RCV000333298]	uncertain significance	4	119187453	119187454	Human	3	name
11597228	CV293585	single nucleotide variant	NM_016599.4(MYOZ2):c.*1000T>C	Hypertrophic cardiomyopathy [RCV000391630]	uncertain significance	4	119187200	119187200	Human	1	name
11593967	CV293591	single nucleotide variant	NM_016599.4(MYOZ2):c.*1083G>T	Hypertrophic cardiomyopathy [RCV000353855]	likely benign	4	119187283	119187283	Human	1	name
11588012	CV296889	single nucleotide variant	NM_016599.4(MYOZ2):c.*1081T>C	Hypertrophic cardiomyopathy [RCV000299101]	uncertain significance	4	119187281	119187281	Human	1	name
11660648	CV296891	single nucleotide variant	NM_016599.4(MYOZ2):c.*1240C>T	Hypertrophic cardiomyopathy [RCV000368872]	uncertain significance	4	119187440	119187440	Human	1	name
11584405	CV296893	single nucleotide variant	NM_016599.4(MYOZ2):c.*1248G>A	Hypertrophic cardiomyopathy [RCV000273514]	likely benign	4	119187448	119187448	Human	1	name
11590405	CV296895	single nucleotide variant	NM_016599.4(MYOZ2):c.*1189T>G	Hypertrophic cardiomyopathy [RCV000318916]	uncertain significance	4	119187389	119187389	Human	1	name
11662636	CV296896	deletion	NM_016599.5(MYOZ2):c.*1262del	Hypertrophic cardiomyopathy 16 [RCV002487528]\|Hypertrophic cardiomyopathy [RCV000387834]	uncertain significance	4	119187454	119187454	Human	3	name
11586547	CV296897	single nucleotide variant	NM_016599.4(MYOZ2):c.*1333A>T	Hypertrophic cardiomyopathy [RCV000288624]	likely benign	4	119187533	119187533	Human	1	name
597697649	CV3558468	single nucleotide variant	NM_016599.5(MYOZ2):c.560+2T>C	Cardiovascular phenotype [RCV004987410]\|Hypertrophic cardiomyopathy [RCV005107585]	uncertain significance	4	119164396	119164396	Human	2	name
13520912	CV495161	single nucleotide variant	NM_016599.5(MYOZ2):c.376+2T>C	Cardiovascular phenotype [RCV003380628]\|Hypertrophic cardiomyopathy [RCV002531120]\|not provided [RCV000599022]	uncertain significance	4	119158153	119158153	Human	2	name
13533862	CV508791	single nucleotide variant	NM_016599.5(MYOZ2):c.377-5C>T	Hypertrophic cardiomyopathy 16 [RCV000616804]	likely benign	4	119164206	119164206	Human	1	name
8608647	CV54950	single nucleotide variant	NM_016599.5(MYOZ2):c.560+9A>G	Hypertrophic cardiomyopathy [RCV005089366]\|not specified [RCV000039011]	likely benign	4	119164403	119164403	Human	2	name
8608650	CV54953	single nucleotide variant	NM_016599.5(MYOZ2):c.76+10A>G	Hypertrophic cardiomyopathy [RCV000264108]\|MYOZ2-related disorder [RCV003914954]\|not provided [RCV001723621]\|not specified [RCV000039015]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	119136611	119136611	Human	3	name , trait , alternate_id
8608651	CV54954	single nucleotide variant	NM_016599.5(MYOZ2):c.77-14A>G	not specified [RCV000039016]	uncertain significance	4	119150858	119150858	Human		name
14688949	CV615209	single nucleotide variant	NM_016599.5(MYOZ2):c.376+9T>A	Cardiomyopathy [RCV000770201]\|Hypertrophic cardiomyopathy [RCV001492541]	likely benign\|uncertain significance	4	119158160	119158160	Human	4	name
26901463	CV850962	single nucleotide variant	NM_016599.5(MYOZ2):c.376+1G>T	Hypertrophic cardiomyopathy [RCV001043390]	uncertain significance	4	119158152	119158152	Human	2	name
150457413	CV1248780	single nucleotide variant	NM_016599.5(MYOZ2):c.-15+28C>T	not provided [RCV001668956]	benign	4	119136010	119136010	Human		name
152078943	CV1579780	single nucleotide variant	NM_016599.5(MYOZ2):c.561-20T>C	Hypertrophic cardiomyopathy [RCV002076112]	likely benign	4	119185946	119185946	Human	2	name
11589180	CV296887	duplication	NM_016599.5(MYOZ2):c.-15+11dup	Hypertrophic cardiomyopathy 16 [RCV002504161]\|Hypertrophic cardiomyopathy [RCV000308941]\|not provided [RCV001691993]	benign\|likely benign	4	119135991	119135992	Human	3	name
405040436	CV3140985	single nucleotide variant	NM_016599.5(MYOZ2):c.377-15T>C	Hypertrophic cardiomyopathy [RCV003831278]	likely benign	4	119164196	119164196	Human	2	name
12838026	CV368942	single nucleotide variant	NM_016599.5(MYOZ2):c.561-13T>A	not provided [RCV001723983]\|not specified [RCV000426221]	likely benign	4	119185953	119185953	Human		name
597922801	CV3738544	single nucleotide variant	NM_016599.5(MYOZ2):c.246+16A>G	Hypertrophic cardiomyopathy [RCV005074952]	likely benign	4	119151057	119151057	Human	2	name
597849706	CV3793125	single nucleotide variant	NM_016599.5(MYOZ2):c.560+14C>T	Hypertrophic cardiomyopathy [RCV005145261]	likely benign	4	119164408	119164408	Human	2	name
8568975	CV40447	single nucleotide variant	NM_016599.5(MYOZ2):c.247-18A>G	Hypertrophic cardiomyopathy 16 [RCV000611931]\|Hypertrophic cardiomyopathy [RCV002054474]\|not provided [RCV000024480]\|not specified [RCV000195294]	pathogenic\|benign\|not provided	4	119158004	119158004	Human	3	name
13527590	CV500438	single nucleotide variant	NM_016599.5(MYOZ2):c.-14-20T>C	not specified [RCV000599810]	likely benign	4	119136492	119136492	Human		name
8608648	CV54951	duplication	NM_016599.5(MYOZ2):c.561-13dup	not provided [RCV001668165]\|not specified [RCV000039012]	benign	4	119185943	119185944	Human		name
14718215	CV660141	single nucleotide variant	NM_016599.5(MYOZ2):c.246+37G>C	not provided [RCV000830321]	benign	4	119151078	119151078	Human		name
14718218	CV660151	single nucleotide variant	NM_016599.5(MYOZ2):c.246+42A>G	not provided [RCV000830322]	benign	4	119151083	119151083	Human		name
14718223	CV660157	single nucleotide variant	NM_016599.5(MYOZ2):c.376+81G>A	not provided [RCV000830324]	benign	4	119158232	119158232	Human		name
14722407	CV660267	single nucleotide variant	NM_016599.5(MYOZ2):c.77-101T>C	not provided [RCV000832087]	benign	4	119150771	119150771	Human		name
14729867	CV660479	single nucleotide variant	NM_016599.5(MYOZ2):c.76+178C>G	not provided [RCV000835414]	likely benign	4	119136779	119136779	Human		name
14718220	CV660483	single nucleotide variant	NM_016599.5(MYOZ2):c.246+79G>C	not provided [RCV000830323]	benign	4	119151120	119151120	Human		name
150454547	CV1232293	deletion	NM_016599.5(MYOZ2):c.246+131del	not provided [RCV001648306]	benign	4	119151163	119151163	Human		name
150532900	CV1308179	single nucleotide variant	NM_016599.5(MYOZ2):c.246+209C>G	not provided [RCV001753170]	likely benign	4	119151250	119151250	Human		name
150532584	CV1309296	single nucleotide variant	NM_016599.5(MYOZ2):c.-14-258C>A	not provided [RCV001752977]	likely benign	4	119136254	119136254	Human		name
13534113	CV512898	insertion	NM_016599.4(MYOZ2):c.-10_-9insA	Familial hypertrophic cardiomyopathy 16 [RCV000625398]	benign	4	119136516	119136517	Human		name
14725369	CV660158	single nucleotide variant	NM_016599.5(MYOZ2):c.376+176G>A	not provided [RCV000833410]	benign	4	119158327	119158327	Human		name
14722408	CV660159	single nucleotide variant	NM_016599.5(MYOZ2):c.560+127A>G	not provided [RCV000832088]	benign	4	119164521	119164521	Human		name
14729263	CV660208	single nucleotide variant	NM_016599.5(MYOZ2):c.-14-112G>A	not provided [RCV000835141]	benign	4	119136400	119136400	Human		name
14736997	CV660209	single nucleotide variant	NM_016599.5(MYOZ2):c.377-222A>T	not provided [RCV000838740]	benign	4	119163989	119163989	Human		name
14725952	CV660269	single nucleotide variant	NM_016599.5(MYOZ2):c.561-139T>C	not provided [RCV000833660]	benign	4	119185827	119185827	Human		name
11597137	CV296890	insertion	NM_016599.5(MYOZ2):c.192_193insATA	Hypertrophic cardiomyopathy [RCV000390447]	uncertain significance	4	119186392	119186393	Human	2	name
151890322	CV1510969	single nucleotide variant	NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)	Cardiovascular phenotype [RCV003382757]\|Hypertrophic cardiomyopathy 16 [RCV002479603]\|Hypertrophic cardiomyopathy [RCV001963624]	uncertain significance	4	119136526	119136526	Human	3	name
9689800	CV178247	duplication	NM_016599.5(MYOZ2):c.561-14_561-13dup	not provided [RCV001753543]\|not specified [RCV000155416]	likely benign\|not provided	4	119185943	119185944	Human		name
11094696	CV229156	single nucleotide variant	NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)	Cardiovascular phenotype [RCV000618421]\|Hypertrophic cardiomyopathy 16 [RCV000625399]\|Hypertrophic cardiomyopathy [RCV001522619]\|not provided [RCV000867356]\|not specified [RCV000221382]	benign\|likely benign\|conflicting interpretations of pathogenicity	4	119136564	119136564	Human	3	name
597697653	CV3558469	single nucleotide variant	NM_016599.5(MYOZ2):c.99C>A (p.Gly33=)	Cardiovascular phenotype [RCV004987411]	likely benign	4	119150894	119150894	Human		name
597697669	CV3558474	single nucleotide variant	NM_016599.5(MYOZ2):c.81T>A (p.Val27=)	Cardiovascular phenotype [RCV004987416]	likely benign	4	119150876	119150876	Human		name
13528328	CV509680	single nucleotide variant	NM_016599.5(MYOZ2):c.75T>C (p.Asn25=)	Cardiovascular phenotype [RCV000620670]\|Hypertrophic cardiomyopathy [RCV001217860]\|not specified [RCV003230558]	benign\|likely benign\|uncertain significance	4	119136600	119136600	Human	2	name
8608652	CV54955	single nucleotide variant	NM_016599.5(MYOZ2):c.84T>C (p.Asp28=)	Cardiovascular phenotype [RCV002444490]\|not specified [RCV000039017]	likely benign	4	119150879	119150879	Human		name
126772789	CV1025574	single nucleotide variant	NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)	Cardiovascular phenotype [RCV002419022]\|Hypertrophic cardiomyopathy 16 [RCV002499691]\|Hypertrophic cardiomyopathy [RCV001345814]	uncertain significance	4	119136544	119136544	Human	3	name
127262936	CV1092968	single nucleotide variant	NM_016599.5(MYOZ2):c.159T>C (p.Arg53=)	Hypertrophic cardiomyopathy [RCV001439168]	likely benign	4	119150954	119150954	Human	2	name
151792516	CV1422933	single nucleotide variant	NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)	Cardiovascular phenotype [RCV002344048]\|Hypertrophic cardiomyopathy 16 [RCV002484558]\|Hypertrophic cardiomyopathy [RCV001916955]	uncertain significance	4	119136536	119136536	Human	3	name
152142173	CV1629067	single nucleotide variant	NM_016599.5(MYOZ2):c.207A>C (p.Thr69=)	Cardiovascular phenotype [RCV002416418]\|Hypertrophic cardiomyopathy [RCV002100926]	likely benign	4	119151002	119151002	Human	2	name
152048592	CV1655994	single nucleotide variant	NM_016599.5(MYOZ2):c.150C>T (p.Leu50=)	Cardiovascular phenotype [RCV002391192]\|Hypertrophic cardiomyopathy [RCV002207226]	likely benign	4	119150945	119150945	Human	2	name
9691161	CV173948	single nucleotide variant	NM_016599.5(MYOZ2):c.190A>C (p.Arg64=)	not specified [RCV000156869]	likely benign	4	119150985	119150985	Human		name
155685362	CV1850152	single nucleotide variant	NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr)	Cardiovascular phenotype [RCV002424206]	uncertain significance	4	119136545	119136545	Human		name
156268511	CV1915147	single nucleotide variant	NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn)	Hypertrophic cardiomyopathy [RCV002628011]	uncertain significance	4	119136552	119136552	Human	2	name
155955552	CV2086947	duplication	NM_016599.5(MYOZ2):c.55dup (p.Met19fs)	Hypertrophic cardiomyopathy [RCV002862582]	uncertain significance	4	119136579	119136580	Human	2	name
156264441	CV2138864	single nucleotide variant	NM_016599.5(MYOZ2):c.252T>C (p.Ser84=)	Hypertrophic cardiomyopathy [RCV002988587]	likely benign	4	119158027	119158027	Human	2	name
405708364	CV3384350	single nucleotide variant	NM_016599.5(MYOZ2):c.204C>T (p.Tyr68=)	Cardiovascular phenotype [RCV004522080]	likely benign	4	119150999	119150999	Human		name
597697675	CV3558475	single nucleotide variant	NM_016599.5(MYOZ2):c.171A>G (p.Leu57=)	Cardiovascular phenotype [RCV004987417]	likely benign	4	119150966	119150966	Human		name
597697677	CV3558476	single nucleotide variant	NM_016599.5(MYOZ2):c.168G>A (p.Arg56=)	Cardiovascular phenotype [RCV004987418]	likely benign	4	119150963	119150963	Human		name
597697683	CV3558477	single nucleotide variant	NM_016599.5(MYOZ2):c.183T>A (p.Arg61=)	Cardiovascular phenotype [RCV004987419]	likely benign	4	119150978	119150978	Human		name
12834106	CV367538	single nucleotide variant	NM_016599.5(MYOZ2):c.228A>G (p.Gln76=)	Cardiomyopathy [RCV000770197]\|Cardiovascular phenotype [RCV000617328]\|Hypertrophic cardiomyopathy [RCV001514771]\|MYOZ2-related disorder [RCV003942372]\|not provided [RCV001703808]	benign\|likely benign	4	119151023	119151023	Human	5	name , trait , alternate_id
597967408	CV3760630	single nucleotide variant	NM_016599.5(MYOZ2):c.276G>A (p.Val92=)	Hypertrophic cardiomyopathy [RCV005083197]	likely benign	4	119158051	119158051	Human	2	name
597944010	CV3782733	single nucleotide variant	NM_016599.5(MYOZ2):c.126C>T (p.Ile42=)	Hypertrophic cardiomyopathy [RCV005134273]	likely benign	4	119150921	119150921	Human	2	name
597882752	CV3799369	single nucleotide variant	NM_016599.5(MYOZ2):c.120A>G (p.Arg40=)	Hypertrophic cardiomyopathy [RCV005150036]	likely benign	4	119150915	119150915	Human	2	name
597921185	CV3852123	single nucleotide variant	NM_016599.5(MYOZ2):c.171A>C (p.Leu57=)	Hypertrophic cardiomyopathy [RCV005205103]	likely benign	4	119150966	119150966	Human	2	name
598203840	CV3986856	single nucleotide variant	NM_016599.5(MYOZ2):c.153T>C (p.Ser51=)	Cardiovascular phenotype [RCV005376485]	likely benign	4	119150948	119150948	Human		name
8568976	CV40448	single nucleotide variant	NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)	Cardiomyopathy [RCV000770198]\|Cardiovascular phenotype [RCV000243425]\|Hypertrophic cardiomyopathy 16 [RCV000604944]\|Hypertrophic cardiomyopathy [RCV001085057]\|MYOZ2-related disorder [RCV003974855]\|not provided [RCV000024481]\|not specified [RCV000039004]	benign\|conflicting interpretations of pathogenicity\|not provided	4	119151032	119151032	Human	5	name , trait , alternate_id
8608641	CV54944	single nucleotide variant	NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)	Cardiomyopathy [RCV001170131]\|Cardiovascular phenotype [RCV002408523]\|Hypertrophic cardiomyopathy [RCV001070182]\|not specified [RCV000039003]	likely benign\|uncertain significance	4	119136542	119136542	Human	4	name
15116632	CV734421	single nucleotide variant	NM_016599.5(MYOZ2):c.123C>T (p.Asp41=)	Cardiovascular phenotype [RCV003380769]\|Hypertrophic cardiomyopathy [RCV001401485]	likely benign	4	119150918	119150918	Human	2	name
150483053	CV1280120	deletion	NM_016599.5(MYOZ2):c.246+130_246+131del	not provided [RCV001715123]	benign	4	119151163	119151164	Human		name
150552626	CV1306536	single nucleotide variant	NM_016599.5(MYOZ2):c.303G>T (p.Ser101=)	Cardiovascular phenotype [RCV003163899]\|Hypertrophic cardiomyopathy [RCV002540667]\|not provided [RCV001768159]	likely benign	4	119158078	119158078	Human	2	name
151732249	CV1355581	single nucleotide variant	NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn)	Hypertrophic cardiomyopathy [RCV001984331]	uncertain significance	4	119136561	119136561	Human	2	name
151877357	CV1461548	single nucleotide variant	NM_016599.5(MYOZ2):c.47C>T (p.Thr16Ile)	Cardiovascular phenotype [RCV004043398]\|Hypertrophic cardiomyopathy [RCV001925990]	uncertain significance	4	119136572	119136572	Human	2	name
152103462	CV1548570	single nucleotide variant	NM_016599.5(MYOZ2):c.447A>G (p.Gln149=)	Cardiovascular phenotype [RCV002331773]\|Hypertrophic cardiomyopathy [RCV002079285]	likely benign	4	119164281	119164281	Human	2	name
152100028	CV1610763	single nucleotide variant	NM_016599.5(MYOZ2):c.309A>G (p.Gln103=)	Cardiovascular phenotype [RCV004641930]\|Hypertrophic cardiomyopathy [RCV002133156]	likely benign	4	119158084	119158084	Human	2	name
152063067	CV1612540	single nucleotide variant	NM_016599.5(MYOZ2):c.792A>G (p.Leu264=)	Cardiovascular phenotype [RCV004651932]\|Hypertrophic cardiomyopathy [RCV002168243]	likely benign	4	119186197	119186197	Human	2	name
152171161	CV1612874	single nucleotide variant	NM_016599.5(MYOZ2):c.705T>C (p.Thr235=)	Hypertrophic cardiomyopathy [RCV002183405]	likely benign	4	119186110	119186110	Human	2	name
152099194	CV1650466	single nucleotide variant	NM_016599.5(MYOZ2):c.441C>T (p.Tyr147=)	Hypertrophic cardiomyopathy [RCV002115099]	likely benign	4	119164275	119164275	Human	2	name
9692047	CV173809	single nucleotide variant	NM_016599.5(MYOZ2):c.768C>A (p.Thr256=)	Cardiovascular phenotype [RCV002399529]\|Hypertrophic cardiomyopathy [RCV002055995]\|not provided [RCV001697145]\|not specified [RCV000151526]	likely benign	4	119186173	119186173	Human	2	name
155704359	CV1810673	single nucleotide variant	NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile)	Cardiovascular phenotype [RCV002359862]\|Hypertrophic cardiomyopathy [RCV005058444]	uncertain significance	4	119136582	119136582	Human	2	name
155697748	CV1811765	single nucleotide variant	NM_016599.5(MYOZ2):c.657T>C (p.Phe219=)	Cardiovascular phenotype [RCV002375783]	likely benign	4	119186062	119186062	Human		name
155687445	CV1815992	single nucleotide variant	NM_016599.5(MYOZ2):c.747A>C (p.Thr249=)	Cardiovascular phenotype [RCV002391491]	likely benign	4	119186152	119186152	Human		name
155699039	CV1824524	single nucleotide variant	NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)	Cardiovascular phenotype [RCV002376039]	uncertain significance	4	119150883	119150883	Human		name
155732805	CV1826498	deletion	NM_016599.5(MYOZ2):c.135del (p.Glu46fs)	Cardiovascular phenotype [RCV002383455]	uncertain significance	4	119150929	119150929	Human		name
156391585	CV1872885	single nucleotide variant	NM_016599.5(MYOZ2):c.519T>C (p.Pro173=)	Cardiovascular phenotype [RCV004642115]\|Hypertrophic cardiomyopathy [RCV003051382]	likely benign	4	119164353	119164353	Human	2	name
11091297	CV229158	single nucleotide variant	NM_016599.5(MYOZ2):c.303G>A (p.Ser101=)	Cardiovascular phenotype [RCV002444854]\|Hypertrophic cardiomyopathy [RCV002057125]\|not provided [RCV002285283]\|not specified [RCV000217132]	benign\|likely benign	4	119158078	119158078	Human	2	name
11089667	CV229160	single nucleotide variant	NM_016599.5(MYOZ2):c.504T>C (p.Pro168=)	Cardiovascular phenotype [RCV002336596]\|Hypertrophic cardiomyopathy [RCV002517485]\|not specified [RCV000215102]	likely benign	4	119164338	119164338	Human	2	name
11349964	CV239332	single nucleotide variant	NM_016599.5(MYOZ2):c.480G>A (p.Pro160=)	Cardiovascular phenotype [RCV003298306]\|Hypertrophic cardiomyopathy [RCV001422805]	likely benign	4	119164314	119164314	Human	2	name
401873598	CV2793860	single nucleotide variant	NM_016599.5(MYOZ2):c.390A>T (p.Pro130=)	Cardiovascular phenotype [RCV003382072]	likely benign	4	119164224	119164224	Human		name
405103967	CV2989419	single nucleotide variant	NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser)	Hypertrophic cardiomyopathy [RCV003749842]	uncertain significance	4	119150880	119150880	Human	2	name
405251556	CV3040463	single nucleotide variant	NM_016599.5(MYOZ2):c.552C>T (p.Ser184=)	Hypertrophic cardiomyopathy [RCV003748011]	likely benign	4	119164386	119164386	Human	2	name
405103411	CV3076123	single nucleotide variant	NM_016599.5(MYOZ2):c.546C>T (p.Tyr182=)	Hypertrophic cardiomyopathy [RCV003749640]	likely benign	4	119164380	119164380	Human	2	name
405708376	CV3384352	single nucleotide variant	NM_016599.5(MYOZ2):c.693C>T (p.Ser231=)	Cardiovascular phenotype [RCV004522082]	likely benign	4	119186098	119186098	Human		name
407505174	CV3447626	single nucleotide variant	NM_016599.5(MYOZ2):c.693C>A (p.Ser231=)	Cardiovascular phenotype [RCV004646029]	likely benign	4	119186098	119186098	Human		name
408384545	CV3504137	single nucleotide variant	NM_016599.5(MYOZ2):c.411A>G (p.Glu137=)	MYOZ2-related disorder [RCV004731854]	likely benign	4	119164245	119164245	Human		name , trait , alternate_id
597697662	CV3558472	single nucleotide variant	NM_016599.5(MYOZ2):c.531A>G (p.Ala177=)	Cardiovascular phenotype [RCV004987413]	likely benign	4	119164365	119164365	Human		name
597697689	CV3558478	single nucleotide variant	NM_016599.5(MYOZ2):c.669C>T (p.Val223=)	Cardiovascular phenotype [RCV004987420]	likely benign	4	119186074	119186074	Human		name
597901607	CV3835484	single nucleotide variant	NM_016599.5(MYOZ2):c.83A>G (p.Asp28Gly)	Hypertrophic cardiomyopathy [RCV005181208]	uncertain significance	4	119150878	119150878	Human	2	name
12886396	CV394297	single nucleotide variant	NM_016599.5(MYOZ2):c.423C>T (p.Thr141=)	Cardiovascular phenotype [RCV004023091]\|Hypertrophic cardiomyopathy [RCV001462072]\|not specified [RCV000605631]	likely benign	4	119164257	119164257	Human	2	name
598203850	CV3986858	single nucleotide variant	NM_016599.5(MYOZ2):c.56T>C (p.Met19Thr)	Cardiovascular phenotype [RCV005376487]	uncertain significance	4	119136581	119136581	Human		name
8568974	CV40446	single nucleotide variant	NM_016599.5(MYOZ2):c.459A>G (p.Glu153=)	Cardiovascular phenotype [RCV000247372]\|Hypertrophic cardiomyopathy 16 [RCV000625401]\|Hypertrophic cardiomyopathy [RCV000315825]\|not provided [RCV000024479]\|not specified [RCV000039009]	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided	4	119164293	119164293	Human	3	name
13494720	CV452942	single nucleotide variant	NM_016599.5(MYOZ2):c.333C>T (p.Thr111=)	Cardiovascular phenotype [RCV004984950]\|Hypertrophic cardiomyopathy [RCV000559118]	likely benign	4	119158108	119158108	Human	2	name
13539906	CV500716	single nucleotide variant	NM_016599.5(MYOZ2):c.330C>T (p.Asn110=)	Cardiovascular phenotype [RCV002325154]\|Hypertrophic cardiomyopathy [RCV002529531]\|not specified [RCV000613920]	likely benign	4	119158105	119158105	Human	2	name
13525080	CV501042	single nucleotide variant	NM_016599.5(MYOZ2):c.391C>T (p.Leu131=)	Hypertrophic cardiomyopathy [RCV002060641]\|not provided [RCV000602665]	likely benign	4	119164225	119164225	Human	2	name
8608642	CV54945	single nucleotide variant	NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)	Cardiomyopathy [RCV000852985]\|Cardiomyopathy [RCV001170132]\|Cardiovascular phenotype [RCV000242166]\|Hypertrophic cardiomyopathy 16 [RCV000625132]\|Hypertrophic cardiomyopathy [RCV000358872]\|not provided [RCV000172571]\|not specified [RCV000039005]	benign\|likely benign\|conflicting interpretations of pathogenicity	4	119136554	119136554	Human	5	name
8608643	CV54946	single nucleotide variant	NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)	Cardiomyopathy [RCV000770196]\|Cardiovascular phenotype [RCV000621201]\|Hypertrophic cardiomyopathy 16 [RCV002496623]\|Hypertrophic cardiomyopathy [RCV000768522]\|not specified [RCV000039006]	uncertain significance	4	119136554	119136554	Human	5	name
8608644	CV54947	single nucleotide variant	NM_016599.5(MYOZ2):c.360A>G (p.Pro120=)	Cardiomyopathy [RCV000770200]\|Cardiovascular phenotype [RCV000247375]\|Hypertrophic cardiomyopathy [RCV000260616]\|not provided [RCV004715650]\|not specified [RCV000039007]	benign\|likely benign\|conflicting interpretations of pathogenicity	4	119158135	119158135	Human	4	name
8608649	CV54952	single nucleotide variant	NM_016599.5(MYOZ2):c.750C>T (p.Thr250=)	Cardiomyopathy [RCV000770202]\|Cardiovascular phenotype [RCV000250478]\|Hypertrophic cardiomyopathy 16 [RCV000625402]\|Hypertrophic cardiomyopathy [RCV000206171]\|MYOZ2-related disorder [RCV003904933]\|not provided [RCV004715651]\|not specified [RCV000039014]	benign\|likely benign\|conflicting interpretations of pathogenicity	4	119186155	119186155	Human	5	name , trait , alternate_id
13813324	CV559579	single nucleotide variant	NM_016599.5(MYOZ2):c.684C>T (p.Gly228=)	Hypertrophic cardiomyopathy [RCV000704287]	likely benign\|uncertain significance	4	119186089	119186089	Human	2	name
14688948	CV614904	single nucleotide variant	NM_016599.5(MYOZ2):c.336A>G (p.Pro112=)	Cardiomyopathy [RCV000770199]\|Cardiovascular phenotype [RCV003303240]	likely benign\|uncertain significance	4	119158111	119158111	Human	2	name
150448434	CV1274640	single nucleotide variant	NM_016599.5(MYOZ2):c.148C>T (p.Leu50Phe)	not provided [RCV001700639]	uncertain significance	4	119150943	119150943	Human		name
151232848	CV1319990	single nucleotide variant	NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu)	Cardiomyopathy [RCV001799346]	uncertain significance	4	119150901	119150901	Human	2	name
151805187	CV1340006	single nucleotide variant	NM_016599.5(MYOZ2):c.268G>A (p.Gly90Arg)	Hypertrophic cardiomyopathy [RCV001867489]	uncertain significance	4	119158043	119158043	Human	2	name
151716575	CV1346037	single nucleotide variant	NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu)	Cardiovascular phenotype [RCV003303461]\|Hypertrophic cardiomyopathy [RCV001965320]	uncertain significance	4	119150973	119150973	Human	2	name
151723821	CV1358378	single nucleotide variant	NM_016599.5(MYOZ2):c.227A>G (p.Gln76Arg)	Hypertrophic cardiomyopathy [RCV001945271]	uncertain significance	4	119151022	119151022	Human	2	name
151846727	CV1368585	single nucleotide variant	NM_016599.5(MYOZ2):c.114C>G (p.Ile38Met)	Hypertrophic cardiomyopathy [RCV001936805]	uncertain significance	4	119150909	119150909	Human	2	name
151878988	CV1412512	single nucleotide variant	NM_016599.5(MYOZ2):c.136G>T (p.Glu46Ter)	Hypertrophic cardiomyopathy [RCV001926190]	uncertain significance	4	119150931	119150931	Human	2	name
151850855	CV1448622	single nucleotide variant	NM_016599.5(MYOZ2):c.259A>G (p.Met87Val)	Hypertrophic cardiomyopathy [RCV001957968]	uncertain significance	4	119158034	119158034	Human	2	name
151827275	CV1467422	single nucleotide variant	NM_016599.5(MYOZ2):c.180G>A (p.Met60Ile)	Hypertrophic cardiomyopathy [RCV001901450]	uncertain significance	4	119150975	119150975	Human	2	name
151741779	CV1478077	single nucleotide variant	NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn)	Hypertrophic cardiomyopathy [RCV002005876]	uncertain significance	4	119150972	119150972	Human	2	name
151888882	CV1517299	single nucleotide variant	NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg)	Cardiovascular phenotype [RCV005375028]\|Hypertrophic cardiomyopathy [RCV002038490]	uncertain significance	4	119150995	119150995	Human	2	name
152038019	CV1669209	deletion	NM_016599.5(MYOZ2):c.327del (p.Asn110fs)	Hypertrophic cardiomyopathy 16 [RCV002487014]\|not provided [RCV002224261]	uncertain significance	4	119158100	119158100	Human	1	name
155745053	CV1806441	single nucleotide variant	NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys)	Cardiovascular phenotype [RCV002346856]	uncertain significance	4	119150914	119150914	Human		name
155720300	CV1835763	single nucleotide variant	NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile)	Cardiovascular phenotype [RCV002380764]	uncertain significance	4	119150924	119150924	Human		name
155722224	CV1840774	single nucleotide variant	NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile)	Cardiovascular phenotype [RCV002432887]	uncertain significance	4	119151012	119151012	Human		name
155692036	CV1841437	single nucleotide variant	NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys)	Cardiovascular phenotype [RCV002459551]	uncertain significance	4	119151033	119151033	Human		name
155698697	CV1847338	single nucleotide variant	NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg)	Cardiovascular phenotype [RCV002428053]	uncertain significance	4	119151016	119151016	Human		name
155671393	CV1847531	single nucleotide variant	NM_016599.5(MYOZ2):c.222G>T (p.Gln74His)	Cardiovascular phenotype [RCV002420129]	uncertain significance	4	119151017	119151017	Human		name
155671544	CV1848613	single nucleotide variant	NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)	Cardiovascular phenotype [RCV002437083]\|Hypertrophic cardiomyopathy [RCV003586371]	uncertain significance	4	119158030	119158030	Human	2	name
155683933	CV1849484	single nucleotide variant	NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu)	Cardiovascular phenotype [RCV002423797]	uncertain significance	4	119150993	119150993	Human		name
155678725	CV1851844	single nucleotide variant	NM_016599.5(MYOZ2):c.253A>C (p.Ile85Leu)	Cardiovascular phenotype [RCV002455767]	uncertain significance	4	119158028	119158028	Human		name
155715711	CV1853929	single nucleotide variant	NM_016599.5(MYOZ2):c.272A>G (p.Lys91Arg)	Cardiovascular phenotype [RCV002431354]	uncertain significance	4	119158047	119158047	Human		name
156376819	CV1896167	single nucleotide variant	NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)	Cardiovascular phenotype [RCV003294505]\|Hypertrophic cardiomyopathy [RCV003092943]	uncertain significance	4	119158070	119158070	Human	2	name
10410109	CV209634	single nucleotide variant	NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)	Cardiovascular phenotype [RCV002408871]\|Hypertrophic cardiomyopathy 16 [RCV002478685]\|Hypertrophic cardiomyopathy [RCV002517183]\|not provided [RCV000197510]	uncertain significance	4	119150976	119150976	Human	3	name
10411459	CV209635	single nucleotide variant	NM_016599.5(MYOZ2):c.220C>T (p.Gln74Ter)	Hypertrophic cardiomyopathy [RCV003748205]\|not provided [RCV000200309]	uncertain significance	4	119151015	119151015	Human	2	name
10411004	CV209636	single nucleotide variant	NM_016599.5(MYOZ2):c.292G>C (p.Glu98Gln)	Hypertrophic cardiomyopathy [RCV001853160]\|not provided [RCV000199353]	uncertain significance	4	119158067	119158067	Human	2	name
156143256	CV2106191	single nucleotide variant	NM_016599.5(MYOZ2):c.251G>C (p.Ser84Thr)	Hypertrophic cardiomyopathy [RCV002928634]	uncertain significance	4	119158026	119158026	Human	2	name
11088877	CV229157	single nucleotide variant	NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr)	Cardiomyopathy [RCV001170134]\|Cardiovascular phenotype [RCV002453763]\|Hypertrophic cardiomyopathy [RCV001084581]\|not provided [RCV000831515]\|not specified [RCV000214117]	benign\|likely benign	4	119151040	119151040	Human	4	name
329379227	CV2432992	single nucleotide variant	NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe)	Cardiovascular phenotype [RCV003187109]	uncertain significance	4	119150919	119150919	Human		name
329379232	CV2432995	single nucleotide variant	NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala)	Cardiovascular phenotype [RCV003187112]	uncertain significance	4	119150988	119150988	Human		name
329379233	CV2432996	single nucleotide variant	NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe)	Cardiovascular phenotype [RCV003187113]	uncertain significance	4	119150936	119150936	Human		name
11594514	CV293563	single nucleotide variant	NM_016599.5(MYOZ2):c.277G>A (p.Asp93Asn)	Cardiovascular phenotype [RCV004987414]	uncertain significance	4	119158052	119158052	Human		name
405708358	CV3384349	single nucleotide variant	NM_016599.5(MYOZ2):c.132G>T (p.Leu44Phe)	Cardiovascular phenotype [RCV004522079]	uncertain significance	4	119150927	119150927	Human		name
407520275	CV3447625	single nucleotide variant	NM_016599.5(MYOZ2):c.263A>G (p.Gln88Arg)	Cardiovascular phenotype [RCV004652110]	uncertain significance	4	119158038	119158038	Human		name
407505177	CV3447628	single nucleotide variant	NM_016599.5(MYOZ2):c.168G>C (p.Arg56Ser)	Cardiovascular phenotype [RCV004646031]	uncertain significance	4	119150963	119150963	Human		name
597697693	CV3558480	single nucleotide variant	NM_016599.5(MYOZ2):c.293A>T (p.Glu98Val)	Cardiovascular phenotype [RCV004987421]	uncertain significance	4	119158068	119158068	Human		name
12833598	CV368936	single nucleotide variant	NM_016599.5(MYOZ2):c.157C>G (p.Arg53Gly)	not provided [RCV000418819]	uncertain significance	4	119150952	119150952	Human		name
597941120	CV3757341	single nucleotide variant	NM_016599.5(MYOZ2):c.128T>C (p.Met43Thr)	Hypertrophic cardiomyopathy [RCV005077527]	uncertain significance	4	119150923	119150923	Human	2	name
597880791	CV3810323	single nucleotide variant	NM_016599.5(MYOZ2):c.251G>A (p.Ser84Asn)	Hypertrophic cardiomyopathy [RCV005149784]	uncertain significance	4	119158026	119158026	Human	2	name
597971851	CV3833202	single nucleotide variant	NM_016599.5(MYOZ2):c.290T>C (p.Leu97Ser)	Hypertrophic cardiomyopathy [RCV005167099]	uncertain significance	4	119158065	119158065	Human	2	name
8568388	CV39465	single nucleotide variant	NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	Hypertrophic cardiomyopathy 16 [RCV000023465]\|not provided [RCV000024476]	pathogenic\|likely pathogenic\|not provided	4	119150937	119150937	Human	1	name
12907217	CV414961	single nucleotide variant	NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)	Cardiomyopathy [RCV001170133]\|Cardiovascular phenotype [RCV002395187]\|Hypertrophic cardiomyopathy [RCV000545242]\|not provided [RCV000490177]	likely benign\|uncertain significance	4	119150941	119150941	Human	4	name
13489788	CV452919	single nucleotide variant	NM_016599.5(MYOZ2):c.158G>A (p.Arg53His)	Hypertrophic cardiomyopathy [RCV000555535]\|not provided [RCV000786377]	uncertain significance	4	119150953	119150953	Human	2	name
13468093	CV452931	single nucleotide variant	NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala)	Cardiovascular phenotype [RCV002438280]\|Hypertrophic cardiomyopathy [RCV000544308]	uncertain significance	4	119158050	119158050	Human	2	name
13482511	CV453334	single nucleotide variant	NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly)	Cardiovascular phenotype [RCV000620911]\|Hypertrophic cardiomyopathy [RCV000529439]	uncertain significance	4	119150976	119150976	Human	2	name
13529661	CV496374	single nucleotide variant	NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys)	not specified [RCV000600393]	uncertain significance	4	119150986	119150986	Human		name
26906935	CV828716	single nucleotide variant	NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys)	Hypertrophic cardiomyopathy [RCV001066039]	uncertain significance	4	119150951	119150951	Human	2	name
28891516	CV903873	deletion	NM_016599.5(MYOZ2):c.591del (p.Ala198fs)	Cardiomyopathy [RCV001170137]	uncertain significance	4	119185992	119185992	Human	2	name
38495803	CV943766	single nucleotide variant	NM_016599.5(MYOZ2):c.182G>A (p.Arg61His)	Cardiovascular phenotype [RCV004986974]\|Hypertrophic cardiomyopathy [RCV001225964]\|MYOZ2-related disorder [RCV003398969]	uncertain significance	4	119150977	119150977	Human	3	name , trait , alternate_id
38488521	CV943767	single nucleotide variant	NM_016599.5(MYOZ2):c.242T>C (p.Ile81Thr)	Hypertrophic cardiomyopathy [RCV001237993]	uncertain significance	4	119151037	119151037	Human	2	name
126754368	CV1025575	single nucleotide variant	NM_016599.5(MYOZ2):c.760G>A (p.Asp254Asn)	Hypertrophic cardiomyopathy [RCV001338801]	uncertain significance	4	119186165	119186165	Human	2	name
126922555	CV1042547	single nucleotide variant	NM_016599.5(MYOZ2):c.562G>A (p.Val188Ile)	Hypertrophic cardiomyopathy [RCV001364810]	uncertain significance	4	119185967	119185967	Human	2	name
151732375	CV1351228	single nucleotide variant	NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)	Cardiovascular phenotype [RCV004043966]\|Hypertrophic cardiomyopathy 16 [RCV002507690]\|Hypertrophic cardiomyopathy [RCV002004920]	uncertain significance	4	119186156	119186156	Human	3	name
151790501	CV1373511	single nucleotide variant	NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr)	Cardiovascular phenotype [RCV003166966]\|Hypertrophic cardiomyopathy [RCV001898131]	uncertain significance	4	119164237	119164237	Human	2	name
151733735	CV1397974	single nucleotide variant	NM_016599.5(MYOZ2):c.724G>A (p.Glu242Lys)	Hypertrophic cardiomyopathy [RCV002005042]	uncertain significance	4	119186129	119186129	Human	2	name
151857585	CV1403411	single nucleotide variant	NM_016599.5(MYOZ2):c.392T>A (p.Leu131Gln)	Hypertrophic cardiomyopathy [RCV001923589]	uncertain significance	4	119164226	119164226	Human	2	name
151868823	CV1413386	single nucleotide variant	NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val)	Cardiovascular phenotype [RCV004042336]\|Hypertrophic cardiomyopathy [RCV002018677]	uncertain significance	4	119185971	119185971	Human	2	name
151767729	CV1450688	single nucleotide variant	NM_016599.5(MYOZ2):c.419A>T (p.Asn140Ile)	Cardiovascular phenotype [RCV004044299]\|Hypertrophic cardiomyopathy [RCV001929217]	uncertain significance	4	119164253	119164253	Human	2	name
151815121	CV1485560	single nucleotide variant	NM_016599.5(MYOZ2):c.373C>T (p.Pro125Ser)	Hypertrophic cardiomyopathy [RCV002029349]	uncertain significance	4	119158148	119158148	Human	2	name
153303533	CV1686323	single nucleotide variant	NM_016599.5(MYOZ2):c.494C>T (p.Ala165Val)	not provided [RCV002261756]	uncertain significance	4	119164328	119164328	Human		name
9689303	CV173808	single nucleotide variant	NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)	Cardiomyopathy [RCV001170138]\|Cardiovascular phenotype [RCV002362814]\|Hypertrophic cardiomyopathy [RCV001499991]\|not provided [RCV000766492]\|not specified [RCV000154787]	likely benign\|uncertain significance	4	119186093	119186093	Human	4	name
9692046	CV173949	single nucleotide variant	NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln)	Cardiovascular phenotype [RCV005372243]\|Hypertrophic cardiomyopathy [RCV000794174]\|not specified [RCV000151525]	uncertain significance	4	119186094	119186094	Human	2	name
155686363	CV1789906	single nucleotide variant	NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)	Cardiovascular phenotype [RCV002355435]	uncertain significance	4	119164217	119164217	Human		name
155721957	CV1789910	single nucleotide variant	NM_016599.5(MYOZ2):c.383C>T (p.Ser128Phe)	Cardiovascular phenotype [RCV002364059]	uncertain significance	4	119164217	119164217	Human		name
155664332	CV1790175	single nucleotide variant	NM_016599.5(MYOZ2):c.386G>A (p.Gly129Glu)	Cardiovascular phenotype [RCV002366256]	uncertain significance	4	119164220	119164220	Human		name
155704790	CV1792029	single nucleotide variant	NM_016599.5(MYOZ2):c.328A>T (p.Asn110Tyr)	Cardiovascular phenotype [RCV002445816]	uncertain significance	4	119158103	119158103	Human		name
155665927	CV1793009	single nucleotide variant	NM_016599.5(MYOZ2):c.362A>G (p.Asp121Gly)	Cardiovascular phenotype [RCV002452347]	uncertain significance	4	119158137	119158137	Human		name
155724476	CV1799436	single nucleotide variant	NM_016599.5(MYOZ2):c.517C>A (p.Pro173Thr)	Cardiovascular phenotype [RCV002338429]	uncertain significance	4	119164351	119164351	Human		name
155675285	CV1808262	single nucleotide variant	NM_016599.5(MYOZ2):c.673C>A (p.Pro225Thr)	Cardiovascular phenotype [RCV002369189]	uncertain significance	4	119186078	119186078	Human		name
155747227	CV1816782	single nucleotide variant	NM_016599.5(MYOZ2):c.790C>G (p.Leu264Val)	Cardiovascular phenotype [RCV002416671]	uncertain significance	4	119186195	119186195	Human		name
155670766	CV1819273	single nucleotide variant	NM_016599.5(MYOZ2):c.711G>C (p.Lys237Asn)	Cardiovascular phenotype [RCV002367439]	uncertain significance	4	119186116	119186116	Human		name
155718156	CV1819320	single nucleotide variant	NM_016599.5(MYOZ2):c.737T>C (p.Ile246Thr)	Cardiovascular phenotype [RCV002380405]	uncertain significance	4	119186142	119186142	Human		name
155728474	CV1823335	single nucleotide variant	NM_016599.5(MYOZ2):c.767C>G (p.Thr256Ser)	Cardiovascular phenotype [RCV002400475]	uncertain significance	4	119186172	119186172	Human		name
10042928	CV186019	single nucleotide variant	NM_016599.5(MYOZ2):c.773T>A (p.Val258Glu)	Hypertrophic cardiomyopathy [RCV000168019]	uncertain significance	4	119186178	119186178	Human	2	name
155942866	CV1878657	single nucleotide variant	NM_016599.5(MYOZ2):c.706C>A (p.Pro236Thr)	Hypertrophic cardiomyopathy [RCV003073659]	uncertain significance	4	119186111	119186111	Human	2	name
10046381	CV189781	single nucleotide variant	NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)	Cardiomyopathy [RCV001798610]\|Cardiovascular phenotype [RCV002433748]\|Hypertrophic cardiomyopathy 16 [RCV002485100]\|Hypertrophic cardiomyopathy [RCV001852093]\|not provided [RCV000172063]	uncertain significance	4	119158077	119158077	Human	5	name
10046382	CV189782	single nucleotide variant	NM_016599.5(MYOZ2):c.363C>A (p.Asp121Glu)	not provided [RCV000172064]	uncertain significance	4	119158138	119158138	Human		name
10046383	CV189783	single nucleotide variant	NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu)	Cardiovascular phenotype [RCV004649082]\|Hypertrophic cardiomyopathy 16 [RCV002505239]\|not provided [RCV000172066]	likely benign\|uncertain significance	4	119186071	119186071	Human	1	name
10046384	CV189784	single nucleotide variant	NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)	Cardiovascular phenotype [RCV002372076]\|Hypertrophic cardiomyopathy 16 [RCV002478550]\|Hypertrophic cardiomyopathy [RCV000537605]\|not provided [RCV000172067]	uncertain significance	4	119186079	119186079	Human	3	name
156252325	CV1967264	single nucleotide variant	NM_016599.5(MYOZ2):c.544T>C (p.Tyr182His)	Hypertrophic cardiomyopathy [RCV002597510]	uncertain significance	4	119164378	119164378	Human	2	name
156108094	CV2038630	single nucleotide variant	NM_016599.5(MYOZ2):c.706C>T (p.Pro236Ser)	Hypertrophic cardiomyopathy [RCV002761580]	uncertain significance	4	119186111	119186111	Human	2	name
155986218	CV2056068	single nucleotide variant	NM_016599.5(MYOZ2):c.477T>A (p.Asp159Glu)	Hypertrophic cardiomyopathy [RCV002818991]	uncertain significance	4	119164311	119164311	Human	2	name
10411176	CV209637	single nucleotide variant	NM_016599.5(MYOZ2):c.314C>G (p.Pro105Arg)	not provided [RCV000199715]	uncertain significance	4	119158089	119158089	Human		name
10409829	CV209638	single nucleotide variant	NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)	Cardiovascular phenotype [RCV002336531]\|Hypertrophic cardiomyopathy 16 [RCV000625133]\|Hypertrophic cardiomyopathy [RCV000458464]\|Primary familial hypertrophic cardiomyopathy [RCV000623809]\|not provided [RCV000196942]	pathogenic\|likely pathogenic\|uncertain significance	4	119164313	119164313	Human	5	name
10410734	CV209639	single nucleotide variant	NM_016599.5(MYOZ2):c.786A>C (p.Glu262Asp)	Hypertrophic cardiomyopathy [RCV003765254]\|not provided [RCV000198790]	likely benign\|uncertain significance	4	119186191	119186191	Human	2	name
156088134	CV2132076	single nucleotide variant	NM_016599.5(MYOZ2):c.682G>A (p.Gly228Ser)	Hypertrophic cardiomyopathy [RCV002979502]	uncertain significance	4	119186087	119186087	Human	2	name
156118142	CV2183097	single nucleotide variant	NM_016599.5(MYOZ2):c.538C>T (p.Pro180Ser)	Hypertrophic cardiomyopathy [RCV003039209]	uncertain significance	4	119164372	119164372	Human	2	name
156123081	CV2276149	single nucleotide variant	NM_016599.5(MYOZ2):c.650C>G (p.Pro217Arg)	Cardiovascular phenotype [RCV004141812]	uncertain significance	4	119186055	119186055	Human		name
11088280	CV229159	single nucleotide variant	NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val)	Cardiovascular phenotype [RCV002321842]\|Hypertrophic cardiomyopathy [RCV001494254]\|not specified [RCV000213377]	likely benign\|uncertain significance	4	119158086	119158086	Human	2	name
11091753	CV229161	single nucleotide variant	NM_016599.5(MYOZ2):c.649C>A (p.Pro217Thr)	not specified [RCV000217689]	uncertain significance	4	119186054	119186054	Human		name
329379228	CV2432993	single nucleotide variant	NM_016599.5(MYOZ2):c.748A>C (p.Thr250Pro)	Cardiovascular phenotype [RCV003187110]	uncertain significance	4	119186153	119186153	Human		name
329379229	CV2432994	single nucleotide variant	NM_016599.5(MYOZ2):c.331A>G (p.Thr111Ala)	Cardiovascular phenotype [RCV003187111]	uncertain significance	4	119158106	119158106	Human		name
329375823	CV2468854	single nucleotide variant	NM_016599.5(MYOZ2):c.419A>G (p.Asn140Ser)	Cardiovascular phenotype [RCV004280158]	uncertain significance	4	119164253	119164253	Human		name
401717701	CV2717735	single nucleotide variant	NM_016599.5(MYOZ2):c.702G>C (p.Arg234Ser)	Cardiovascular phenotype [RCV003310687]	uncertain significance	4	119186107	119186107	Human		name
401873597	CV2793859	single nucleotide variant	NM_016599.5(MYOZ2):c.592G>T (p.Ala198Ser)	Cardiovascular phenotype [RCV003382071]	uncertain significance	4	119185997	119185997	Human		name
405169291	CV2890138	single nucleotide variant	NM_016599.5(MYOZ2):c.373C>G (p.Pro125Ala)	Hypertrophic cardiomyopathy [RCV003587317]	uncertain significance	4	119158148	119158148	Human	2	name
405168747	CV2904995	single nucleotide variant	NM_016599.5(MYOZ2):c.577G>A (p.Gly193Arg)	Cardiovascular phenotype [RCV004985420]\|Hypertrophic cardiomyopathy [RCV003587394]	uncertain significance	4	119185982	119185982	Human	2	name
405172516	CV2919697	single nucleotide variant	NM_016599.5(MYOZ2):c.549G>C (p.Arg183Ser)	Cardiovascular phenotype [RCV005387203]\|Hypertrophic cardiomyopathy [RCV003587716]	uncertain significance	4	119164383	119164383	Human	2	name
11585396	CV292142	single nucleotide variant	NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg)	Hypertrophic cardiomyopathy 16 [RCV000604489]\|not provided [RCV001699998]	uncertain significance	4	119186117	119186117	Human	1	name
405252566	CV2939873	single nucleotide variant	NM_016599.5(MYOZ2):c.456G>A (p.Trp152Ter)	Hypertrophic cardiomyopathy [RCV003748534]	uncertain significance	4	119164290	119164290	Human	2	name
405251777	CV3042718	single nucleotide variant	NM_016599.5(MYOZ2):c.348C>G (p.Ser116Arg)	Hypertrophic cardiomyopathy [RCV003748103]	uncertain significance	4	119158123	119158123	Human	2	name
405253032	CV3044287	single nucleotide variant	NM_016599.5(MYOZ2):c.302C>T (p.Ser101Leu)	Hypertrophic cardiomyopathy [RCV003748696]	uncertain significance	4	119158077	119158077	Human	2	name
405251916	CV3053145	single nucleotide variant	NM_016599.5(MYOZ2):c.361G>A (p.Asp121Asn)	Hypertrophic cardiomyopathy [RCV003748135]	uncertain significance	4	119158136	119158136	Human	2	name
405114031	CV3133824	single nucleotide variant	NM_016599.5(MYOZ2):c.442T>C (p.Tyr148His)	Hypertrophic cardiomyopathy [RCV003836619]	uncertain significance	4	119164276	119164276	Human	2	name
405708367	CV3384351	single nucleotide variant	NM_016599.5(MYOZ2):c.464C>T (p.Ala155Val)	Cardiovascular phenotype [RCV004522081]	uncertain significance	4	119164298	119164298	Human		name
405708559	CV3384353	single nucleotide variant	NM_016599.5(MYOZ2):c.703A>G (p.Thr235Ala)	Cardiovascular phenotype [RCV004522083]	uncertain significance	4	119186108	119186108	Human		name
407520271	CV3447623	single nucleotide variant	NM_016599.5(MYOZ2):c.532G>C (p.Glu178Gln)	Cardiovascular phenotype [RCV004652108]	uncertain significance	4	119164366	119164366	Human		name
407520273	CV3447624	single nucleotide variant	NM_016599.5(MYOZ2):c.461A>G (p.Gln154Arg)	Cardiovascular phenotype [RCV004652109]	uncertain significance	4	119164295	119164295	Human		name
407505175	CV3447627	single nucleotide variant	NM_016599.5(MYOZ2):c.772G>C (p.Val258Leu)	Cardiovascular phenotype [RCV004646030]\|Hypertrophic cardiomyopathy 16 [RCV005023615]	uncertain significance	4	119186177	119186177	Human	1	name
597697657	CV3558470	single nucleotide variant	NM_016599.5(MYOZ2):c.585T>A (p.Phe195Leu)	Cardiovascular phenotype [RCV004987412]	uncertain significance	4	119185990	119185990	Human		name
597697666	CV3558473	single nucleotide variant	NM_016599.5(MYOZ2):c.323C>T (p.Pro108Leu)	Cardiovascular phenotype [RCV004987415]	uncertain significance	4	119158098	119158098	Human		name
12844282	CV367840	single nucleotide variant	NM_016599.5(MYOZ2):c.344G>A (p.Arg115Gln)	not provided [RCV000437722]	uncertain significance	4	119158119	119158119	Human		name
597888869	CV3739317	single nucleotide variant	NM_016599.5(MYOZ2):c.662C>G (p.Ser221Cys)	Hypertrophic cardiomyopathy [RCV005070864]	uncertain significance	4	119186067	119186067	Human	2	name
597923044	CV3775810	single nucleotide variant	NM_016599.5(MYOZ2):c.407C>T (p.Pro136Leu)	Hypertrophic cardiomyopathy [RCV005115525]	uncertain significance	4	119164241	119164241	Human	2	name
597973979	CV3801668	single nucleotide variant	NM_016599.5(MYOZ2):c.367A>G (p.Ile123Val)	Hypertrophic cardiomyopathy [RCV005143657]	uncertain significance	4	119158142	119158142	Human	2	name
597854633	CV3806168	single nucleotide variant	NM_016599.5(MYOZ2):c.446A>G (p.Gln149Arg)	Hypertrophic cardiomyopathy [RCV005145910]	uncertain significance	4	119164280	119164280	Human	2	name
597858023	CV3822347	single nucleotide variant	NM_016599.5(MYOZ2):c.430G>A (p.Val144Ile)	Hypertrophic cardiomyopathy [RCV005174645]	uncertain significance	4	119164264	119164264	Human	2	name
597873865	CV3836373	single nucleotide variant	NM_016599.5(MYOZ2):c.488T>G (p.Leu163Ter)	Hypertrophic cardiomyopathy [RCV005177170]	uncertain significance	4	119164322	119164322	Human	2	name
597963855	CV3837776	single nucleotide variant	NM_016599.5(MYOZ2):c.371C>A (p.Ala124Asp)	Hypertrophic cardiomyopathy [RCV005193758]	uncertain significance	4	119158146	119158146	Human	2	name
12885300	CV393875	single nucleotide variant	NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)	Cardiomyopathy [RCV003448909]\|Cardiovascular phenotype [RCV002451145]\|Hypertrophic cardiomyopathy 16 [RCV002496790]\|Hypertrophic cardiomyopathy [RCV000465076]\|not provided [RCV000786376]	uncertain significance	4	119158118	119158118	Human	5	name
8568389	CV39466	single nucleotide variant	NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)	Hypertrophic cardiomyopathy 16 [RCV000023466]\|Hypertrophic cardiomyopathy [RCV000330572]\|not provided [RCV000024477]\|not specified [RCV000039013]	pathogenic\|benign\|likely benign\|not provided	4	119186143	119186143	Human	3	name
598158700	CV3986855	single nucleotide variant	NM_016599.5(MYOZ2):c.529G>T (p.Ala177Ser)	Cardiovascular phenotype [RCV005389979]	likely benign	4	119164363	119164363	Human		name
12899190	CV406390	single nucleotide variant	NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val)	Cardiovascular phenotype [RCV002376887]\|Hypertrophic cardiomyopathy [RCV002525953]\|not provided [RCV000479639]	uncertain significance	4	119186123	119186123	Human	2	name
13481601	CV443558	single nucleotide variant	NM_016599.5(MYOZ2):c.787G>A (p.Asp263Asn)	not provided [RCV000521553]	uncertain significance	4	119186192	119186192	Human		name
13468510	CV453257	single nucleotide variant	NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)	Cardiovascular phenotype [RCV003159720]\|Hypertrophic cardiomyopathy 16 [RCV002481747]\|Hypertrophic cardiomyopathy [RCV000544548]\|not provided [RCV001508510]	uncertain significance	4	119186150	119186150	Human	3	name
13534866	CV509681	single nucleotide variant	NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile)	Cardiovascular phenotype [RCV000619125]\|Hypertrophic cardiomyopathy [RCV001868136]	uncertain significance	4	119186154	119186154	Human	2	name
13609330	CV520001	single nucleotide variant	NM_016599.5(MYOZ2):c.313C>T (p.Pro105Ser)	Cardiovascular phenotype [RCV004025345]\|Hypertrophic cardiomyopathy [RCV001485080]	likely benign\|uncertain significance	4	119158088	119158088	Human	2	name
8608645	CV54948	single nucleotide variant	NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)	Hypertrophic cardiomyopathy 16 [RCV002490531]\|Hypertrophic cardiomyopathy [RCV001339474]\|not provided [RCV000172065]\|not specified [RCV000039008]	likely pathogenic\|uncertain significance	4	119164281	119164281	Human	3	name
8608646	CV54949	single nucleotide variant	NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)	Cardiomyopathy [RCV001798126]\|Cardiovascular phenotype [RCV000246679]\|Hypertrophic cardiomyopathy 16 [RCV000515178]\|Hypertrophic cardiomyopathy [RCV000459249]\|Restrictive cardiomyopathy [RCV000852986]\|not provided [RCV001719756]\|not specified [RCV000039010]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	119164322	119164322	Human	7	name
14716217	CV631908	single nucleotide variant	NM_016599.5(MYOZ2):c.508C>T (p.Leu170Phe)	Hypertrophic cardiomyopathy [RCV000811497]	uncertain significance	4	119164342	119164342	Human	2	name
14721076	CV631909	single nucleotide variant	NM_016599.5(MYOZ2):c.581G>A (p.Gly194Asp)	Hypertrophic cardiomyopathy [RCV000796939]	uncertain significance	4	119185986	119185986	Human	2	name
15015074	CV679533	single nucleotide variant	NM_016599.5(MYOZ2):c.659T>C (p.Met220Thr)	Primary familial hypertrophic cardiomyopathy [RCV000853157]	uncertain significance	4	119186064	119186064	Human	1	name
21068991	CV795522	single nucleotide variant	NM_016599.5(MYOZ2):c.415T>A (p.Phe139Ile)	Hypertrophic cardiomyopathy 16 [RCV003989614]\|not provided [RCV000998285]	uncertain significance	4	119164249	119164249	Human	1	name
26900058	CV828717	single nucleotide variant	NM_016599.5(MYOZ2):c.358C>T (p.Pro120Ser)	Hypertrophic cardiomyopathy [RCV001038417]	uncertain significance	4	119158133	119158133	Human	2	name
26899747	CV828718	single nucleotide variant	NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser)	Cardiovascular phenotype [RCV002337096]\|Hypertrophic cardiomyopathy [RCV001037228]	uncertain significance	4	119164331	119164331	Human	2	name
26906877	CV828720	single nucleotide variant	NM_016599.5(MYOZ2):c.547A>G (p.Arg183Gly)	Hypertrophic cardiomyopathy [RCV001065784]	uncertain significance	4	119164381	119164381	Human	2	name
28891503	CV903871	single nucleotide variant	NM_016599.5(MYOZ2):c.439T>C (p.Tyr147His)	Cardiomyopathy [RCV001170135]	uncertain significance	4	119164273	119164273	Human	2	name
28891510	CV903872	single nucleotide variant	NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile)	Cardiomyopathy [RCV001170136]\|Cardiovascular phenotype [RCV002355131]\|Hypertrophic cardiomyopathy [RCV001295089]	likely benign\|uncertain significance	4	119185988	119185988	Human	4	name
38459472	CV932134	single nucleotide variant	NM_016599.5(MYOZ2):c.523G>A (p.Gly175Arg)	Hypertrophic cardiomyopathy [RCV001211643]	uncertain significance	4	119164357	119164357	Human	2	name
38487303	CV932135	single nucleotide variant	NM_016599.5(MYOZ2):c.654G>T (p.Arg218Ser)	Hypertrophic cardiomyopathy [RCV001209259]	uncertain significance	4	119186059	119186059	Human	2	name
38490448	CV943768	single nucleotide variant	NM_016599.5(MYOZ2):c.389C>T (p.Pro130Leu)	Hypertrophic cardiomyopathy [RCV001238834]	uncertain significance	4	119164223	119164223	Human	2	name
9690944	CV173807	duplication	NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))	not specified [RCV000156639]	uncertain significance	4	119136526	119136601	Human		name
26906158	CV828719	indel	NM_016599.5(MYOZ2):c.499_501delinsAACTTTTCAAG (p.Tyr167fs)	Hypertrophic cardiomyopathy [RCV001061554]	uncertain significance	4	119164333	119164335	Human		name

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