Jph2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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983 records found for search term Jph2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150407133	CV1195491	single nucleotide variant	NM_020433.5(JPH2):c.*3G>A	not provided [RCV001572254]	likely benign	20	44114793	44114793	Human		name
155740598	CV1809494	single nucleotide variant	NM_020433.5(JPH2):c.-4T>A	Cardiovascular phenotype [RCV002343064]\|not provided [RCV005051962]\|not specified [RCV003331352]	uncertain significance	20	44186709	44186709	Human		name
10046330	CV190019	single nucleotide variant	NM_020433.5(JPH2):c.*15A>T	Hypertrophic cardiomyopathy 17 [RCV002492717]\|not provided [RCV000171953]	uncertain significance	20	44113503	44113503	Human	1	name
150457930	CV1219683	single nucleotide variant	NM_020433.5(JPH2):c.*258G>A	not provided [RCV001612899]	benign	20	44113260	44113260	Human		name
150504464	CV1240759	single nucleotide variant	NM_020433.5(JPH2):c.-393C>A	not provided [RCV001657602]	benign	20	44187098	44187098	Human	3	name
150468117	CV1257007	single nucleotide variant	NM_020433.5(JPH2):c.-450G>C	not provided [RCV001670653]	benign	20	44187155	44187155	Human		name
150476212	CV1279213	single nucleotide variant	NM_020433.5(JPH2):c.-401G>A	not provided [RCV001713951]	benign	20	44187106	44187106	Human		name
14718780	CV669129	single nucleotide variant	NM_020433.4(JPH2):c.-974T>C	not provided [RCV000830501]	benign	20	44187679	44187679	Human	1	name
14718780	CV669129	single nucleotide variant	NM_020433.4(JPH2):c.-974T>C	not provided [RCV000830501]	benign	20	44187679	44187680	Human	1	name
8691346	CV141306	single nucleotide variant	NM_020433.5(JPH2):c.380-9C>G	Hypertrophic cardiomyopathy 17 [RCV000613922]\|Hypertrophic cardiomyopathy [RCV000204708]\|not provided [RCV001727584]\|not specified [RCV000125442]	benign\|likely benign	20	44160416	44160416	Human	3	name
8691347	CV141307	single nucleotide variant	NM_020433.5(JPH2):c.380-6C>T	Hypertrophic cardiomyopathy 17 [RCV000606774]\|Hypertrophic cardiomyopathy [RCV000205602]\|not provided [RCV004597745]\|not specified [RCV000125443]	benign\|conflicting interpretations of pathogenicity	20	44160413	44160413	Human	3	name
156253617	CV1967317	single nucleotide variant	NM_020433.5(JPH2):c.379+9A>G	Hypertrophic cardiomyopathy [RCV002597551]	likely benign	20	44186318	44186318	Human	2	name
405725949	CV3381817	single nucleotide variant	NM_020433.5(JPH2):c.380-5C>T	Cardiovascular phenotype [RCV004524505]	uncertain significance	20	44160412	44160412	Human		name
150480362	CV1258420	single nucleotide variant	NM_020433.5(JPH2):c.379+77C>T	not provided [RCV001685839]	benign	20	44186250	44186250	Human		name
150516742	CV1287512	single nucleotide variant	NM_020433.5(JPH2):c.1289-9C>T	not provided [RCV001723489]	likely benign	20	44116395	44116395	Human		name
150532374	CV1299696	single nucleotide variant	NM_020433.5(JPH2):c.1169+5G>A	not provided [RCV001752622]	uncertain significance	20	44159613	44159613	Human		name
151870097	CV1395330	single nucleotide variant	NM_020433.5(JPH2):c.1288+4G>A	Hypertrophic cardiomyopathy [RCV002035547]	uncertain significance	20	44118501	44118501	Human	2	name
8691351	CV141311	single nucleotide variant	NM_020433.5(JPH2):c.1289-7C>T	Hypertrophic cardiomyopathy 17 [RCV000624926]\|Hypertrophic cardiomyopathy [RCV000228199]\|not provided [RCV001795238]\|not specified [RCV000125447]	benign\|likely benign	20	44116393	44116393	Human	3	name
152155153	CV1579600	single nucleotide variant	NM_020433.5(JPH2):c.1289-8C>T	Hypertrophic cardiomyopathy [RCV002158752]	likely benign	20	44116394	44116394	Human	2	name
152121707	CV1613235	single nucleotide variant	NM_020433.5(JPH2):c.379+19C>T	Hypertrophic cardiomyopathy [RCV002154346]	likely benign	20	44186308	44186308	Human	2	name
152101330	CV1645789	single nucleotide variant	NM_020433.5(JPH2):c.380-20C>T	Hypertrophic cardiomyopathy 17 [RCV002498151]\|Hypertrophic cardiomyopathy [RCV002173143]	likely benign	20	44160427	44160427	Human	3	name
155747982	CV1846456	single nucleotide variant	NM_020433.5(JPH2):c.2010+5G>C	Cardiovascular phenotype [RCV002417332]	uncertain significance	20	44115660	44115660	Human		name
156348646	CV1889527	single nucleotide variant	NM_020433.5(JPH2):c.379+12T>C	Hypertrophic cardiomyopathy [RCV003090792]	likely benign	20	44186315	44186315	Human	2	name
156365611	CV2020867	single nucleotide variant	NM_020433.5(JPH2):c.2010+8T>C	Hypertrophic cardiomyopathy [RCV002721162]	likely benign	20	44115657	44115657	Human	2	name
156219596	CV2173135	deletion	NM_020433.5(JPH2):c.1288+6del	Hypertrophic cardiomyopathy [RCV003025140]	uncertain significance	20	44118499	44118499	Human	2	name
405174592	CV2931570	single nucleotide variant	NM_020433.5(JPH2):c.380-16C>T	Hypertrophic cardiomyopathy [RCV003587942]	likely benign	20	44160423	44160423	Human	2	name
405101776	CV3064172	single nucleotide variant	NM_020433.5(JPH2):c.379+13G>A	Hypertrophic cardiomyopathy [RCV003748908]	likely benign	20	44186314	44186314	Human	2	name
405213118	CV3142758	single nucleotide variant	NM_020433.5(JPH2):c.1170-3T>C	Hypertrophic cardiomyopathy [RCV003846115]	uncertain significance	20	44118626	44118626	Human	2	name
405088397	CV3163601	single nucleotide variant	NM_020433.5(JPH2):c.380-19G>T	Hypertrophic cardiomyopathy [RCV003852109]	likely benign	20	44160426	44160426	Human	2	name
407467088	CV3448154	single nucleotide variant	NM_020433.5(JPH2):c.2011-5C>G	Cardiovascular phenotype [RCV004635791]	uncertain significance	20	44114881	44114881	Human		name
12844042	CV378012	single nucleotide variant	NM_020433.5(JPH2):c.*14+15C>T	not specified [RCV000437294]	likely benign	20	44114767	44114767	Human		name
13531025	CV507164	single nucleotide variant	NM_020433.5(JPH2):c.379+12T>G	Hypertrophic cardiomyopathy [RCV002066791]\|not provided [RCV001726266]\|not specified [RCV000606334]	likely benign	20	44186315	44186315	Human	2	name
13531722	CV507331	single nucleotide variant	NM_020433.5(JPH2):c.380-18C>T	not specified [RCV000606567]	likely benign	20	44160425	44160425	Human		name
13536860	CV507341	single nucleotide variant	NM_020433.5(JPH2):c.379+20C>T	Hypertrophic cardiomyopathy [RCV002063880]\|not specified [RCV000609587]	benign\|likely benign	20	44186307	44186307	Human	2	name
13525289	CV508186	single nucleotide variant	NM_020433.5(JPH2):c.379+17G>A	not specified [RCV000602960]	likely benign	20	44186310	44186310	Human		name
13609336	CV533518	single nucleotide variant	NM_020433.5(JPH2):c.1169+8A>G	Hypertrophic cardiomyopathy [RCV000629048]\|not specified [RCV005405207]	likely benign	20	44159610	44159610	Human	2	name
14718133	CV669121	single nucleotide variant	NM_020433.5(JPH2):c.379+36A>G	not provided [RCV000830295]	benign	20	44186291	44186291	Human		name
150337013	CV1173351	single nucleotide variant	NM_020433.5(JPH2):c.*15-115A>C	not provided [RCV001541348]	benign	20	44113618	44113618	Human		name
150427996	CV1188852	single nucleotide variant	NM_020433.5(JPH2):c.1289-36G>C	not provided [RCV001561671]	likely benign	20	44116422	44116422	Human		name
150413898	CV1192239	single nucleotide variant	NM_020433.5(JPH2):c.380-141T>C	not provided [RCV001567344]	likely benign	20	44160548	44160548	Human		name
150419379	CV1195492	single nucleotide variant	NM_020433.5(JPH2):c.1288+52C>T	not provided [RCV001569660]	likely benign	20	44118453	44118453	Human		name
150411777	CV1199212	single nucleotide variant	NM_020433.5(JPH2):c.*14+259C>T	not provided [RCV001574133]	likely benign	20	44114523	44114523	Human		name
150417489	CV1199213	single nucleotide variant	NM_020433.5(JPH2):c.1289-34G>T	not provided [RCV001576319]	likely benign	20	44116420	44116420	Human		name
150438678	CV1201438	single nucleotide variant	NM_020433.5(JPH2):c.*14+175A>G	not provided [RCV001583250]	likely benign	20	44114607	44114607	Human		name
150437781	CV1221067	single nucleotide variant	NM_020433.5(JPH2):c.*14+173A>G	not provided [RCV001609761]	benign	20	44114609	44114609	Human		name
150461750	CV1231515	single nucleotide variant	NM_020433.5(JPH2):c.*14+269C>T	not provided [RCV001641082]	benign	20	44114513	44114513	Human		name
150477778	CV1240083	single nucleotide variant	NM_020433.5(JPH2):c.2011-17C>T	Hypertrophic cardiomyopathy [RCV002073010]\|not provided [RCV001652261]\|not specified [RCV005057538]	benign	20	44114893	44114893	Human	2	name
151739906	CV1477651	single nucleotide variant	NM_020433.5(JPH2):c.1288+15G>C	Hypertrophic cardiomyopathy [RCV001946999]	likely benign	20	44118490	44118490	Human	2	name
152126000	CV1548791	single nucleotide variant	NM_020433.5(JPH2):c.1169+16G>A	Hypertrophic cardiomyopathy [RCV002082223]	likely benign	20	44159602	44159602	Human	2	name
156004061	CV1906190	single nucleotide variant	NM_020433.5(JPH2):c.1169+16G>T	Hypertrophic cardiomyopathy [RCV003098939]	likely benign	20	44159602	44159602	Human	2	name
156288409	CV1907581	single nucleotide variant	NM_020433.5(JPH2):c.1169+11G>A	Hypertrophic cardiomyopathy [RCV003087379]	likely benign	20	44159607	44159607	Human	2	name
155901847	CV1975699	single nucleotide variant	NM_020433.5(JPH2):c.2010+12G>A	Hypertrophic cardiomyopathy [RCV002613437]	likely benign	20	44115653	44115653	Human	2	name
156260404	CV1977517	single nucleotide variant	NM_020433.5(JPH2):c.1288+20G>A	Hypertrophic cardiomyopathy [RCV002597762]	likely benign	20	44118485	44118485	Human	2	name
156099661	CV2004860	single nucleotide variant	NM_020433.5(JPH2):c.1289-13G>C	Hypertrophic cardiomyopathy [RCV002639533]	likely benign	20	44116399	44116399	Human	2	name
156223725	CV2080990	single nucleotide variant	NM_020433.5(JPH2):c.1288+19G>A	Hypertrophic cardiomyopathy [RCV002853307]	likely benign	20	44118486	44118486	Human	2	name
405166311	CV2887890	single nucleotide variant	NM_020433.5(JPH2):c.1288+13A>G	Hypertrophic cardiomyopathy [RCV003587061]	likely benign	20	44118492	44118492	Human	2	name
405103114	CV2975418	single nucleotide variant	NM_020433.5(JPH2):c.1288+10G>C	Hypertrophic cardiomyopathy [RCV003749456]	likely benign	20	44118495	44118495	Human	2	name
405253093	CV3052138	single nucleotide variant	NM_020433.5(JPH2):c.1169+20G>T	Hypertrophic cardiomyopathy [RCV003748762]	likely benign	20	44159598	44159598	Human	2	name
404978739	CV3127397	single nucleotide variant	NM_020433.5(JPH2):c.1170-17C>A	Hypertrophic cardiomyopathy [RCV003825621]	likely benign	20	44118640	44118640	Human	2	name
12840709	CV378026	single nucleotide variant	NM_020433.5(JPH2):c.1169+18G>C	not specified [RCV000431235]	likely benign	20	44159600	44159600	Human		name
12845665	CV378234	single nucleotide variant	NM_020433.5(JPH2):c.2011-15C>T	Hypertrophic cardiomyopathy [RCV002525442]\|not specified [RCV000440234]	likely benign	20	44114891	44114891	Human	2	name
597895306	CV3810379	single nucleotide variant	NM_020433.5(JPH2):c.2010+14G>T	Hypertrophic cardiomyopathy [RCV005151904]	likely benign	20	44115651	44115651	Human	2	name
13533677	CV497751	single nucleotide variant	NM_020433.5(JPH2):c.1169+10C>T	Hypertrophic cardiomyopathy 17 [RCV000600385]\|Hypertrophic cardiomyopathy [RCV000867225]\|JPH2-related disorder [RCV003915752]\|not provided [RCV001724073]\|not specified [RCV000612689]	likely benign	20	44159608	44159608	Human	3	name , trait , alternate_id
13526388	CV507327	single nucleotide variant	NM_020433.5(JPH2):c.1170-11T>C	Hypertrophic cardiomyopathy [RCV002529563]\|not provided [RCV001724079]\|not specified [RCV000604093]	likely benign	20	44118634	44118634	Human	2	name
13537866	CV507749	single nucleotide variant	NM_020433.5(JPH2):c.2010+11C>T	Hypertrophic cardiomyopathy [RCV002063125]\|not specified [RCV000611000]	benign\|likely benign	20	44115654	44115654	Human	2	name
13539818	CV507760	single nucleotide variant	NM_020433.5(JPH2):c.1169+16G>C	Hypertrophic cardiomyopathy [RCV003767712]\|not specified [RCV000613798]	likely benign	20	44159602	44159602	Human	2	name
14745758	CV669103	single nucleotide variant	NM_020433.5(JPH2):c.379+279C>A	not provided [RCV000843716]	benign	20	44186048	44186048	Human	3	name
14745758	CV669103	single nucleotide variant	NM_020433.5(JPH2):c.379+279C>A	not provided [RCV000843716]	benign	20	44186048	44186049	Human	3	name
14722114	CV669109	single nucleotide variant	NM_020433.5(JPH2):c.379+130T>C	not provided [RCV000831962]	benign	20	44186197	44186197	Human		name
14729254	CV670173	single nucleotide variant	NM_020433.5(JPH2):c.*14+124C>T	not provided [RCV000835138]	likely benign	20	44114658	44114658	Human		name
14728274	CV670184	single nucleotide variant	NM_020433.5(JPH2):c.2010+89G>A	not provided [RCV000834704]	likely benign	20	44115576	44115576	Human		name
14718135	CV670194	single nucleotide variant	NM_020433.5(JPH2):c.1289-89A>C	not provided [RCV000830296]	benign	20	44116475	44116475	Human		name
14718916	CV670251	single nucleotide variant	NM_020433.5(JPH2):c.2010+40C>G	not provided [RCV000830544]	benign	20	44115625	44115625	Human		name
14719176	CV670479	single nucleotide variant	NM_020433.5(JPH2):c.380-105G>A	not provided [RCV000830658]	likely benign	20	44160512	44160512	Human		name
150418458	CV1181857	single nucleotide variant	NM_020433.5(JPH2):c.2010+245G>A	not provided [RCV001550610]	likely benign	20	44115420	44115420	Human		name
150428134	CV1188853	single nucleotide variant	NM_020433.5(JPH2):c.1170-278A>C	not provided [RCV001561856]	likely benign	20	44118901	44118901	Human		name
150476395	CV1203032	single nucleotide variant	NM_020433.5(JPH2):c.2011-100C>G	not provided [RCV001589626]	likely benign	20	44114976	44114976	Human		name
150433198	CV1203596	deletion	NM_020433.5(JPH2):c.1169+248del	not provided [RCV001581752]	likely benign	20	44159370	44159370	Human		name
150461324	CV1206446	single nucleotide variant	NM_020433.5(JPH2):c.379+8507A>C	not provided [RCV001586847]	likely benign	20	44177820	44177820	Human		name
150438460	CV1238025	single nucleotide variant	NM_020433.5(JPH2):c.2010+146G>C	not provided [RCV001644523]	benign	20	44115519	44115519	Human		name
150500751	CV1238241	single nucleotide variant	NM_020433.5(JPH2):c.1169+123A>G	not provided [RCV001656671]	benign	20	44159495	44159495	Human		name
150481758	CV1244158	single nucleotide variant	NM_020433.5(JPH2):c.379+8059T>C	not provided [RCV001653004]	benign	20	44178268	44178268	Human		name
329351375	CV2478026	single nucleotide variant	NM_020433.5(JPH2):c.379+8350T>A	Hypertrophic cardiomyopathy 17 [RCV003224692]	uncertain significance	20	44177977	44177977	Human	1	name
405273564	CV3198084	single nucleotide variant	NM_020433.5(JPH2):c.379+8369C>T	JPH2-related disorder [RCV003901854]	likely benign	20	44177958	44177958	Human		name , trait , alternate_id
405273805	CV3198262	single nucleotide variant	NM_020433.5(JPH2):c.379+8362T>C	JPH2-related disorder [RCV003902031]	likely benign	20	44177965	44177965	Human		name , trait , alternate_id
405295442	CV3204677	single nucleotide variant	NM_020433.5(JPH2):c.379+8370G>A	JPH2-related disorder [RCV003937350]	likely benign	20	44177957	44177957	Human		name , trait , alternate_id
616936798	CV4010769	single nucleotide variant	NM_020433.5(JPH2):c.379+4772G>C	not specified [RCV005404116]	benign	20	44181555	44181555	Human		name
616937107	CV4011274	single nucleotide variant	NM_020433.5(JPH2):c.379+4796G>A	not specified [RCV005405120]	likely benign	20	44181531	44181531	Human		name
616937169	CV4011336	single nucleotide variant	NM_020433.5(JPH2):c.379+4805G>A	not specified [RCV005405182]	benign	20	44181522	44181522	Human		name
14722116	CV670198	single nucleotide variant	NM_020433.5(JPH2):c.379+8538T>A	not provided [RCV000831963]	benign	20	44177789	44177789	Human		name
14712649	CV670200	single nucleotide variant	NM_020433.5(JPH2):c.379+8052T>C	not provided [RCV000828485]	likely benign	20	44178275	44178275	Human		name
14735772	CV670254	single nucleotide variant	NM_020433.5(JPH2):c.379+8605C>G	not provided [RCV000838169]	benign	20	44177722	44177722	Human		name
14745760	CV670477	single nucleotide variant	NM_020433.5(JPH2):c.1289-324A>T	not provided [RCV000843718]	benign	20	44116710	44116710	Human		name
150425069	CV1185553	microsatellite	NM_020433.5(JPH2):c.*14+169GC[3]	not provided [RCV001557517]	likely benign	20	44114609	44114610	Human		name
150425592	CV1185554	microsatellite	NM_020433.5(JPH2):c.*14+169GC[4]	not provided [RCV001558207]	likely benign	20	44114609	44114610	Human		name
150483545	CV1222320	microsatellite	NM_020433.5(JPH2):c.*14+173AC[13]	not provided [RCV001617322]	benign	20	44114566	44114583	Human		name
150498432	CV1235565	microsatellite	NM_020433.5(JPH2):c.*14+173AC[23]	not provided [RCV001656248]	benign	20	44114565	44114566	Human		name
150506432	CV1257338	microsatellite	NM_020433.5(JPH2):c.*14+173AC[18]	not provided [RCV001678177]	benign	20	44114566	44114573	Human		name
150484853	CV1261974	microsatellite	NM_020433.5(JPH2):c.*14+173AC[19]	not provided [RCV001686665]	benign	20	44114566	44114571	Human		name
150472926	CV1281320	microsatellite	NM_020433.5(JPH2):c.*14+173AC[20]	not provided [RCV001713447]	benign	20	44114566	44114569	Human		name
150488082	CV1283949	microsatellite	NM_020433.5(JPH2):c.*14+173AC[21]	not provided [RCV001716048]	benign	20	44114566	44114567	Human		name
126747085	CV1034699	duplication	NM_020433.5(JPH2):c.2006_2010+1dup	Hypertrophic cardiomyopathy 17 [RCV002493734]\|Hypertrophic cardiomyopathy [RCV001337420]	uncertain significance	20	44115663	44115664	Human	3	name
155731307	CV1825934	single nucleotide variant	NM_020433.5(JPH2):c.9G>A (p.Gly3=)	Cardiovascular phenotype [RCV002383151]\|Hypertrophic cardiomyopathy [RCV003094917]	likely benign	20	44186697	44186697	Human	2	name
405725939	CV3381815	single nucleotide variant	NM_020433.5(JPH2):c.21C>T (p.Asp7=)	Cardiovascular phenotype [RCV004524503]	likely benign	20	44186685	44186685	Human		name
127312000	CV1128483	single nucleotide variant	NM_020433.5(JPH2):c.48G>T (p.Gly16=)	Cardiovascular phenotype [RCV002342040]\|Hypertrophic cardiomyopathy [RCV001464272]	likely benign	20	44186658	44186658	Human	2	name
156251443	CV2098061	single nucleotide variant	NM_020433.5(JPH2):c.5G>A (p.Ser2Asn)	Hypertrophic cardiomyopathy [RCV002895276]	uncertain significance	20	44186701	44186701	Human	2	name
11552451	CV259074	single nucleotide variant	NM_020433.5(JPH2):c.45C>T (p.Cys15=)	Cardiovascular phenotype [RCV000254395]\|Hypertrophic cardiomyopathy [RCV002519950]\|not provided [RCV001697696]	likely benign	20	44186661	44186661	Human	2	name
12833815	CV377030	single nucleotide variant	NM_020433.5(JPH2):c.72T>C (p.His24=)	Cardiovascular phenotype [RCV002379353]\|Hypertrophic cardiomyopathy [RCV000546628]\|not specified [RCV000419227]	likely benign	20	44186634	44186634	Human	2	name
13529666	CV507767	single nucleotide variant	NM_020433.5(JPH2):c.30T>C (p.Asp10=)	Cardiovascular phenotype [RCV002325158]\|Hypertrophic cardiomyopathy [RCV001493849]\|not specified [RCV000605824]	likely benign	20	44186676	44186676	Human	2	name
14699552	CV624683	single nucleotide variant	NM_020433.5(JPH2):c.8G>A (p.Gly3Glu)	Cardiovascular phenotype [RCV002370061]\|Hypertrophic cardiomyopathy [RCV002536910]\|JPH2-related disorder [RCV003411736]\|not provided [RCV000788956]	uncertain significance	20	44186698	44186698	Human	3	name , trait , alternate_id
127316112	CV1149462	single nucleotide variant	NM_020433.5(JPH2):c.168C>T (p.Ser56=)	Cardiovascular phenotype [RCV004037231]\|Hypertrophic cardiomyopathy [RCV001482688]	likely benign	20	44186538	44186538	Human	2	name
150546854	CV1302881	single nucleotide variant	NM_020433.5(JPH2):c.23T>C (p.Phe8Ser)	Cardiovascular phenotype [RCV003163878]\|Hypertrophic cardiomyopathy [RCV003772023]\|not provided [RCV001763626]	uncertain significance	20	44186683	44186683	Human	2	name
8691345	CV141305	single nucleotide variant	NM_020433.5(JPH2):c.156C>T (p.Tyr52=)	Cardiomyopathy, dilated, 2E [RCV001730567]\|Cardiovascular phenotype [RCV000242911]\|Hypertrophic cardiomyopathy 17 [RCV000603558]\|Hypertrophic cardiomyopathy [RCV000755554]\|not provided [RCV002227069]\|not specified [RCV000125441]	benign	20	44186550	44186550	Human	4	name
152136511	CV1555469	single nucleotide variant	NM_020433.5(JPH2):c.216G>T (p.Leu72=)	Cardiovascular phenotype [RCV002427630]\|Hypertrophic cardiomyopathy [RCV002119778]	likely benign	20	44186490	44186490	Human	2	name
152162117	CV1584700	single nucleotide variant	NM_020433.5(JPH2):c.159C>T (p.Thr53=)	Hypertrophic cardiomyopathy [RCV002123390]	likely benign	20	44186547	44186547	Human	2	name
155713353	CV1830026	single nucleotide variant	NM_020433.5(JPH2):c.147A>G (p.Ala49=)	Cardiovascular phenotype [RCV002397094]\|Hypertrophic cardiomyopathy [RCV003095218]	likely benign	20	44186559	44186559	Human	2	name
155716675	CV1844738	single nucleotide variant	NM_020433.5(JPH2):c.234G>T (p.Gly78=)	Cardiovascular phenotype [RCV002448388]\|Hypertrophic cardiomyopathy [RCV005098095]	likely benign	20	44186472	44186472	Human	2	name
155681874	CV1854615	single nucleotide variant	NM_020433.5(JPH2):c.291G>T (p.Arg97=)	Cardiovascular phenotype [RCV002439948]	likely benign	20	44186415	44186415	Human		name
155664172	CV1855138	single nucleotide variant	NM_020433.5(JPH2):c.282C>T (p.Tyr94=)	Cardiovascular phenotype [RCV002435094]\|Hypertrophic cardiomyopathy [RCV003102765]	likely benign	20	44186424	44186424	Human	2	name
156273278	CV2018538	deletion	NM_020433.5(JPH2):c.1288+8_1288+36del	Hypertrophic cardiomyopathy [RCV002715054]	likely benign	20	44118469	44118497	Human	2	name
401745492	CV2729026	single nucleotide variant	NM_020433.5(JPH2):c.249G>A (p.Lys83=)	Cardiovascular phenotype [RCV003293538]	likely benign	20	44186457	44186457	Human		name
405167121	CV2882803	single nucleotide variant	NM_020433.5(JPH2):c.255G>A (p.Glu85=)	Hypertrophic cardiomyopathy [RCV003587253]	likely benign	20	44186451	44186451	Human	2	name
405165849	CV2888447	single nucleotide variant	NM_020433.5(JPH2):c.108C>A (p.Gly36=)	Hypertrophic cardiomyopathy [RCV003587140]	likely benign	20	44186598	44186598	Human	2	name
405084466	CV3121954	single nucleotide variant	NM_020433.5(JPH2):c.144G>A (p.Val48=)	Hypertrophic cardiomyopathy [RCV003810709]	likely benign	20	44186562	44186562	Human	2	name
405160844	CV3125069	single nucleotide variant	NM_020433.5(JPH2):c.108C>T (p.Gly36=)	Hypertrophic cardiomyopathy [RCV003818340]	likely benign	20	44186598	44186598	Human	2	name
405725964	CV3381820	deletion	NM_020433.5(JPH2):c.62del (p.Gly21fs)	Cardiovascular phenotype [RCV004524508]	uncertain significance	20	44186644	44186644	Human		name
597718234	CV3691392	single nucleotide variant	NM_020433.5(JPH2):c.279C>T (p.Arg93=)	Cardiovascular phenotype [RCV004991828]	likely benign	20	44186427	44186427	Human		name
597718242	CV3691394	single nucleotide variant	NM_020433.5(JPH2):c.13C>T (p.Arg5Cys)	Cardiovascular phenotype [RCV004991830]	uncertain significance	20	44186693	44186693	Human		name
597718260	CV3691400	single nucleotide variant	NM_020433.5(JPH2):c.14G>A (p.Arg5His)	Cardiovascular phenotype [RCV004991835]	uncertain significance	20	44186692	44186692	Human		name
597718313	CV3691417	single nucleotide variant	NM_020433.5(JPH2):c.285A>G (p.Gly95=)	Cardiovascular phenotype [RCV004991849]	likely benign	20	44186421	44186421	Human		name
597718317	CV3691418	single nucleotide variant	NM_020433.5(JPH2):c.180T>C (p.Phe60=)	Cardiovascular phenotype [RCV004991850]	likely benign	20	44186526	44186526	Human		name
597718320	CV3691419	single nucleotide variant	NM_020433.5(JPH2):c.234G>A (p.Gly78=)	Cardiovascular phenotype [RCV004991851]	likely benign	20	44186472	44186472	Human		name
597718325	CV3691420	single nucleotide variant	NM_020433.5(JPH2):c.264T>C (p.His88=)	Cardiovascular phenotype [RCV004991852]	likely benign	20	44186442	44186442	Human		name
597718335	CV3691423	single nucleotide variant	NM_020433.5(JPH2):c.276A>C (p.Gly92=)	Cardiovascular phenotype [RCV004991855]	likely benign	20	44186430	44186430	Human		name
597718339	CV3691424	single nucleotide variant	NM_020433.5(JPH2):c.243C>G (p.Leu81=)	Cardiovascular phenotype [RCV004991856]	likely benign	20	44186463	44186463	Human		name
13533241	CV507167	single nucleotide variant	NM_020433.5(JPH2):c.243C>T (p.Leu81=)	Cardiovascular phenotype [RCV002456329]\|not specified [RCV000607028]	likely benign	20	44186463	44186463	Human		name
13529896	CV510840	single nucleotide variant	NM_020433.5(JPH2):c.114C>T (p.Tyr38=)	Cardiovascular phenotype [RCV000622075]	likely benign	20	44186592	44186592	Human		name
38498812	CV951101	single nucleotide variant	NM_020433.5(JPH2):c.252C>T (p.Gly84=)	Hypertrophic cardiomyopathy [RCV001227992]	likely benign\|uncertain significance	20	44186454	44186454	Human	2	name
8642866	CV101850	single nucleotide variant	NM_020433.5(JPH2):c.624C>G (p.Ala208=)	Cardiovascular phenotype [RCV000617258]\|Hypertrophic cardiomyopathy 17 [RCV000601894]\|Hypertrophic cardiomyopathy [RCV001087192]\|JPH2-related disorder [RCV003915097]\|not provided [RCV000723681]\|not specified [RCV000215339]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44160163	44160163	Human	3	name , trait , alternate_id
126746601	CV1034708	single nucleotide variant	NM_020433.5(JPH2):c.62G>A (p.Gly21Glu)	Hypertrophic cardiomyopathy [RCV001337346]	uncertain significance	20	44186644	44186644	Human	2	name
127230663	CV1085340	single nucleotide variant	NM_020433.5(JPH2):c.861C>T (p.Thr287=)	Cardiovascular phenotype [RCV002449120]\|Hypertrophic cardiomyopathy [RCV001412597]\|not provided [RCV001597270]	likely benign	20	44159926	44159926	Human	2	name
127237390	CV1085341	single nucleotide variant	NM_020433.5(JPH2):c.843C>T (p.Ala281=)	Cardiovascular phenotype [RCV002449083]\|Hypertrophic cardiomyopathy [RCV001392298]	likely benign	20	44159944	44159944	Human	2	name
127282656	CV1085342	single nucleotide variant	NM_020433.5(JPH2):c.837C>T (p.Phe279=)	Hypertrophic cardiomyopathy [RCV001411259]\|not provided [RCV003120603]	likely benign	20	44159950	44159950	Human	2	name
127232212	CV1085343	single nucleotide variant	NM_020433.5(JPH2):c.546G>C (p.Ser182=)	Hypertrophic cardiomyopathy [RCV001413353]	likely benign	20	44160241	44160241	Human	2	name
127255088	CV1107054	single nucleotide variant	NM_020433.5(JPH2):c.915G>A (p.Val305=)	Hypertrophic cardiomyopathy [RCV001437397]	likely benign	20	44159872	44159872	Human	2	name
127258288	CV1107055	single nucleotide variant	NM_020433.5(JPH2):c.582C>T (p.Ala194=)	Cardiovascular phenotype [RCV002358979]\|Hypertrophic cardiomyopathy [RCV001438090]\|not provided [RCV001571967]	likely benign	20	44160205	44160205	Human	2	name
127282013	CV1107056	single nucleotide variant	NM_020433.5(JPH2):c.543C>T (p.Ala181=)	Hypertrophic cardiomyopathy [RCV001447567]	likely benign	20	44160244	44160244	Human	2	name
127269762	CV1107057	single nucleotide variant	NM_020433.5(JPH2):c.306C>T (p.Ser102=)	Cardiovascular phenotype [RCV002449186]\|Hypertrophic cardiomyopathy [RCV001441169]	likely benign	20	44186400	44186400	Human	2	name
127319718	CV1128482	single nucleotide variant	NM_020433.5(JPH2):c.846T>C (p.Asp282=)	Cardiovascular phenotype [RCV002449245]\|Hypertrophic cardiomyopathy [RCV001466639]	likely benign	20	44159941	44159941	Human	2	name
127309538	CV1149459	single nucleotide variant	NM_020433.5(JPH2):c.696C>T (p.Arg232=)	Hypertrophic cardiomyopathy [RCV001501102]	likely benign	20	44160091	44160091	Human	2	name
127327619	CV1149460	single nucleotide variant	NM_020433.5(JPH2):c.678G>C (p.Leu226=)	Hypertrophic cardiomyopathy [RCV001486417]	likely benign	20	44160109	44160109	Human	2	name
127325426	CV1149461	single nucleotide variant	NM_020433.5(JPH2):c.549G>T (p.Pro183=)	Hypertrophic cardiomyopathy [RCV001506016]	likely benign	20	44160238	44160238	Human	2	name
150439242	CV1201524	single nucleotide variant	NM_020433.5(JPH2):c.735T>C (p.Arg245=)	Cardiovascular phenotype [RCV002386472]\|not provided [RCV001583336]	likely benign	20	44160052	44160052	Human		name
150450419	CV1254112	single nucleotide variant	NM_020433.5(JPH2):c.468C>G (p.Arg156=)	Cardiovascular phenotype [RCV005369930]\|Hypertrophic cardiomyopathy [RCV002539670]\|not provided [RCV001667750]	pathogenic\|benign\|likely benign	20	44160319	44160319	Human	2	name
8691348	CV141308	single nucleotide variant	NM_020433.5(JPH2):c.642G>A (p.Ala214=)	Cardiovascular phenotype [RCV000620394]\|Hypertrophic cardiomyopathy [RCV000200103]\|not provided [RCV001727585]\|not specified [RCV000125444]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	44160145	44160145	Human	2	name
151782298	CV1486850	single nucleotide variant	NM_020433.5(JPH2):c.77A>G (p.His26Arg)	Cardiovascular phenotype [RCV002407050]\|Hypertrophic cardiomyopathy 17 [RCV002490237]\|Hypertrophic cardiomyopathy [RCV001915994]	uncertain significance	20	44186629	44186629	Human	4	name
151892657	CV1493840	single nucleotide variant	NM_020433.5(JPH2):c.714C>G (p.Ser238=)	Cardiovascular phenotype [RCV004631843]\|Hypertrophic cardiomyopathy [RCV001944345]	likely benign\|uncertain significance	20	44160073	44160073	Human	2	name
152122760	CV1594002	single nucleotide variant	NM_020433.5(JPH2):c.789C>T (p.Thr263=)	Hypertrophic cardiomyopathy [RCV002175797]	likely benign	20	44159998	44159998	Human	2	name
152044389	CV1637834	single nucleotide variant	NM_020433.5(JPH2):c.495C>T (p.Ser165=)	Cardiovascular phenotype [RCV004046364]\|Hypertrophic cardiomyopathy [RCV002144912]	likely benign	20	44160292	44160292	Human	2	name
152070028	CV1660823	single nucleotide variant	NM_020433.5(JPH2):c.612C>T (p.Leu204=)	Cardiovascular phenotype [RCV002352861]\|Hypertrophic cardiomyopathy [RCV002129491]	likely benign	20	44160175	44160175	Human	2	name
152030356	CV1661432	single nucleotide variant	NM_020433.5(JPH2):c.435G>A (p.Gln145=)	Hypertrophic cardiomyopathy [RCV002124304]	likely benign	20	44160352	44160352	Human	2	name
152099093	CV1663908	single nucleotide variant	NM_020433.5(JPH2):c.633C>T (p.Ala211=)	Cardiovascular phenotype [RCV004046418]\|Hypertrophic cardiomyopathy [RCV002078751]	likely benign	20	44160154	44160154	Human	2	name
155688508	CV1788948	single nucleotide variant	NM_020433.5(JPH2):c.348C>T (p.Asp116=)	Cardiovascular phenotype [RCV002459002]\|Hypertrophic cardiomyopathy [RCV005058311]	likely benign	20	44186358	44186358	Human	2	name
155686455	CV1790005	single nucleotide variant	NM_020433.5(JPH2):c.384G>A (p.Thr128=)	Cardiovascular phenotype [RCV002355478]\|Hypertrophic cardiomyopathy [RCV003775749]	likely benign	20	44160403	44160403	Human	2	name
155677134	CV1792823	single nucleotide variant	NM_020433.5(JPH2):c.360C>T (p.Thr120=)	Cardiovascular phenotype [RCV002455314]	likely benign	20	44186346	44186346	Human		name
155673078	CV1801227	single nucleotide variant	NM_020433.5(JPH2):c.630G>T (p.Ala210=)	Cardiovascular phenotype [RCV002368839]\|Hypertrophic cardiomyopathy [RCV003098201]	likely benign	20	44160157	44160157	Human	2	name
155713028	CV1802399	single nucleotide variant	NM_020433.5(JPH2):c.50G>T (p.Gly17Val)	Cardiovascular phenotype [RCV002335992]	uncertain significance	20	44186656	44186656	Human		name
155666889	CV1803104	single nucleotide variant	NM_020433.5(JPH2):c.540C>G (p.Pro180=)	Cardiovascular phenotype [RCV002349405]	likely benign	20	44160247	44160247	Human		name
155744063	CV1803299	single nucleotide variant	NM_020433.5(JPH2):c.564C>T (p.Pro188=)	Cardiovascular phenotype [RCV002345175]	likely benign	20	44160223	44160223	Human		name
155746202	CV1803469	single nucleotide variant	NM_020433.5(JPH2):c.567G>A (p.Ala189=)	Cardiovascular phenotype [RCV002347418]\|Hypertrophic cardiomyopathy [RCV003586347]	likely benign	20	44160220	44160220	Human	2	name
155738055	CV1804989	single nucleotide variant	NM_020433.5(JPH2):c.456C>T (p.Ala152=)	Cardiovascular phenotype [RCV002342112]	likely benign	20	44160331	44160331	Human		name
155742693	CV1806166	single nucleotide variant	NM_020433.5(JPH2):c.528C>T (p.Ala176=)	Cardiovascular phenotype [RCV002344508]	likely benign	20	44160259	44160259	Human		name
155687131	CV1807374	single nucleotide variant	NM_020433.5(JPH2):c.58G>C (p.Gly20Arg)	Cardiovascular phenotype [RCV002355700]	uncertain significance	20	44186648	44186648	Human		name
155681943	CV1807782	single nucleotide variant	NM_020433.5(JPH2):c.618C>A (p.Ala206=)	Cardiovascular phenotype [RCV002353808]	likely benign	20	44160169	44160169	Human		name
155742280	CV1809715	single nucleotide variant	NM_020433.5(JPH2):c.522G>T (p.Thr174=)	Cardiovascular phenotype [RCV002344315]	likely benign	20	44160265	44160265	Human		name
155735537	CV1809912	single nucleotide variant	NM_020433.5(JPH2):c.525G>A (p.Val175=)	Cardiovascular phenotype [RCV002341005]\|Hypertrophic cardiomyopathy [RCV005096758]	likely benign	20	44160262	44160262	Human	2	name
155674197	CV1810103	single nucleotide variant	NM_020433.5(JPH2):c.549G>A (p.Pro183=)	Cardiovascular phenotype [RCV002351604]	likely benign	20	44160238	44160238	Human		name
155704424	CV1810685	single nucleotide variant	NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)	Cardiovascular phenotype [RCV002359874]\|Hypertrophic cardiomyopathy 17 [RCV003147766]\|Hypertrophic cardiomyopathy [RCV003096878]	uncertain significance	20	44186649	44186649	Human	3	name
155706978	CV1812239	single nucleotide variant	NM_020433.5(JPH2):c.68C>T (p.Ala23Val)	Cardiovascular phenotype [RCV002378053]\|not provided [RCV004763390]	uncertain significance	20	44186638	44186638	Human		name
155698926	CV1813295	single nucleotide variant	NM_020433.5(JPH2):c.759C>T (p.Leu253=)	Cardiovascular phenotype [RCV002394194]	likely benign	20	44160028	44160028	Human		name
155708791	CV1813987	single nucleotide variant	NM_020433.5(JPH2):c.831A>G (p.Ala277=)	Cardiovascular phenotype [RCV002430405]	likely benign	20	44159956	44159956	Human		name
155680321	CV1815923	single nucleotide variant	NM_020433.5(JPH2):c.720T>C (p.Gly240=)	Cardiovascular phenotype [RCV002370919]	likely benign	20	44160067	44160067	Human		name
155687524	CV1816010	single nucleotide variant	NM_020433.5(JPH2):c.747T>C (p.Leu249=)	Cardiovascular phenotype [RCV002391509]	likely benign	20	44160040	44160040	Human		name
155727835	CV1818945	single nucleotide variant	NM_020433.5(JPH2):c.705G>A (p.Ser235=)	Cardiovascular phenotype [RCV002365031]\|Hypertrophic cardiomyopathy [RCV005058487]	likely benign	20	44160082	44160082	Human	2	name
155709513	CV1821206	single nucleotide variant	NM_020433.5(JPH2):c.903G>A (p.Ser301=)	Cardiovascular phenotype [RCV002378466]	likely benign	20	44159884	44159884	Human		name
155717059	CV1822868	single nucleotide variant	NM_020433.5(JPH2):c.732C>T (p.Ser244=)	Cardiovascular phenotype [RCV002380147]	likely benign	20	44160055	44160055	Human		name
155708437	CV1823264	single nucleotide variant	NM_020433.5(JPH2):c.765G>T (p.Ser255=)	Cardiovascular phenotype [RCV002396446]	likely benign	20	44160022	44160022	Human		name
155705249	CV1824106	single nucleotide variant	NM_020433.5(JPH2):c.843C>A (p.Ala281=)	Cardiovascular phenotype [RCV002445931]	likely benign	20	44159944	44159944	Human		name
155684389	CV1824866	single nucleotide variant	NM_020433.5(JPH2):c.933C>T (p.Gly311=)	Cardiovascular phenotype [RCV002371664]	likely benign	20	44159854	44159854	Human		name
155696747	CV1854744	single nucleotide variant	NM_020433.5(JPH2):c.303C>T (p.Ser101=)	Cardiovascular phenotype [RCV002443981]	likely benign	20	44186403	44186403	Human		name
156413204	CV1887744	single nucleotide variant	NM_020433.5(JPH2):c.630G>A (p.Ala210=)	Cardiovascular phenotype [RCV004071997]\|Hypertrophic cardiomyopathy [RCV003073198]	likely benign	20	44160157	44160157	Human	2	name
156192062	CV1915996	single nucleotide variant	NM_020433.5(JPH2):c.558C>T (p.Asp186=)	Hypertrophic cardiomyopathy [RCV002595407]	likely benign	20	44160229	44160229	Human	2	name
156379948	CV1964197	single nucleotide variant	NM_020433.5(JPH2):c.534C>T (p.Asp178=)	Hypertrophic cardiomyopathy [RCV002583098]	likely benign	20	44160253	44160253	Human	2	name
156412201	CV1969346	single nucleotide variant	NM_020433.5(JPH2):c.930T>C (p.Ser310=)	Cardiovascular phenotype [RCV003167447]\|Hypertrophic cardiomyopathy [RCV002587741]	likely benign	20	44159857	44159857	Human	2	name
156124586	CV1969347	single nucleotide variant	NM_020433.5(JPH2):c.915G>C (p.Val305=)	Hypertrophic cardiomyopathy [RCV002593259]	likely benign	20	44159872	44159872	Human	2	name
156290975	CV2009694	single nucleotide variant	NM_020433.5(JPH2):c.999C>T (p.Asp333=)	Hypertrophic cardiomyopathy [RCV002715650]	likely benign	20	44159788	44159788	Human	2	name
155951746	CV2058795	single nucleotide variant	NM_020433.5(JPH2):c.627G>A (p.Glu209=)	Hypertrophic cardiomyopathy [RCV002816307]	likely benign	20	44160160	44160160	Human	2	name
156154601	CV2098648	single nucleotide variant	NM_020433.5(JPH2):c.849C>T (p.Ile283=)	Hypertrophic cardiomyopathy [RCV002890770]	likely benign	20	44159938	44159938	Human	2	name
156177713	CV2166451	single nucleotide variant	NM_020433.5(JPH2):c.327C>T (p.Thr109=)	Hypertrophic cardiomyopathy [RCV003023729]	likely benign	20	44186379	44186379	Human	2	name
156272952	CV2168203	single nucleotide variant	NM_020433.5(JPH2):c.688C>T (p.Leu230=)	Cardiovascular phenotype [RCV003367955]\|Hypertrophic cardiomyopathy [RCV003027057]	likely benign	20	44160099	44160099	Human	2	name
11089262	CV231101	single nucleotide variant	NM_020433.5(JPH2):c.780C>T (p.Ala260=)	Cardiovascular phenotype [RCV000247450]\|Hypertrophic cardiomyopathy [RCV000457483]\|not provided [RCV001529720]\|not specified [RCV000214594]	benign\|likely benign	20	44160007	44160007	Human	2	name
329366869	CV2441946	single nucleotide variant	NM_020433.5(JPH2):c.897A>G (p.Lys299=)	Cardiovascular phenotype [RCV003207992]	likely benign	20	44159890	44159890	Human		name
11543609	CV259065	single nucleotide variant	NM_020433.5(JPH2):c.537T>C (p.Ser179=)	Cardiovascular phenotype [RCV000242690]\|Hypertrophic cardiomyopathy [RCV005090277]	likely benign	20	44160250	44160250	Human	2	name
11551213	CV259066	single nucleotide variant	NM_020433.5(JPH2):c.648G>A (p.Lys216=)	Cardiovascular phenotype [RCV000252748]\|Hypertrophic cardiomyopathy 17 [RCV000614550]\|Hypertrophic cardiomyopathy [RCV000553301]\|not provided [RCV001594927]\|not specified [RCV001698664]	benign\|likely benign\|uncertain significance	20	44160139	44160139	Human	3	name
11547301	CV259068	single nucleotide variant	NM_020433.5(JPH2):c.972C>T (p.His324=)	Cardiovascular phenotype [RCV000247582]\|Hypertrophic cardiomyopathy [RCV001505136]	likely benign	20	44159815	44159815	Human	2	name
11543207	CV259071	single nucleotide variant	NM_020433.5(JPH2):c.624C>T (p.Ala208=)	Cardiovascular phenotype [RCV000242157]\|Hypertrophic cardiomyopathy [RCV000862380]\|not specified [RCV000611567]	likely benign	20	44160163	44160163	Human	2	name
11544840	CV259076	single nucleotide variant	NM_020433.5(JPH2):c.483G>A (p.Thr161=)	Cardiovascular phenotype [RCV000244330]\|Hypertrophic cardiomyopathy [RCV001087143]\|JPH2-related disorder [RCV003909888]\|not provided [RCV000841265]\|not specified [RCV003993909]	benign\|likely benign	20	44160304	44160304	Human	3	name , trait , alternate_id
401777633	CV2729020	single nucleotide variant	NM_020433.5(JPH2):c.52T>A (p.Trp18Arg)	Cardiovascular phenotype [RCV003306451]	uncertain significance	20	44186654	44186654	Human		name
401777639	CV2729024	single nucleotide variant	NM_020433.5(JPH2):c.67G>A (p.Ala23Thr)	Cardiovascular phenotype [RCV003306454]\|not provided [RCV004017978]	uncertain significance	20	44186639	44186639	Human		name
401828222	CV2742910	single nucleotide variant	NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)	Cardiomyopathy, dilated, 2E [RCV003325442]	uncertain significance	20	44186671	44186671	Human	1	name
401866996	CV2748808	single nucleotide variant	NM_020433.5(JPH2):c.471G>A (p.Ser157=)	not specified [RCV003331630]	likely benign	20	44160316	44160316	Human		name
401889269	CV2760580	single nucleotide variant	NM_020433.5(JPH2):c.58G>T (p.Gly20Trp)	Cardiovascular phenotype [RCV003368359]	uncertain significance	20	44186648	44186648	Human		name
405102233	CV2961589	single nucleotide variant	NM_020433.5(JPH2):c.774C>T (p.Ser258=)	Hypertrophic cardiomyopathy [RCV003749234]	likely benign	20	44160013	44160013	Human	2	name
405104337	CV2998477	single nucleotide variant	NM_020433.5(JPH2):c.498G>A (p.Leu166=)	Hypertrophic cardiomyopathy [RCV003749976]	likely benign	20	44160289	44160289	Human	2	name
405250862	CV3013726	single nucleotide variant	NM_020433.5(JPH2):c.492G>A (p.Ser164=)	Cardiovascular phenotype [RCV004992724]\|Hypertrophic cardiomyopathy [RCV003747729]	likely benign	20	44160295	44160295	Human	2	name
405251442	CV3024217	single nucleotide variant	NM_020433.5(JPH2):c.300A>C (p.Ser100=)	Hypertrophic cardiomyopathy [RCV003747965]	likely benign	20	44186406	44186406	Human	2	name
405251186	CV3029239	single nucleotide variant	NM_020433.5(JPH2):c.519C>A (p.Gly173=)	Hypertrophic cardiomyopathy [RCV003747865]	likely benign	20	44160268	44160268	Human	2	name
405101898	CV3062917	single nucleotide variant	NM_020433.5(JPH2):c.852C>T (p.Asp284=)	Hypertrophic cardiomyopathy [RCV003749054]	likely benign	20	44159935	44159935	Human	2	name
405103674	CV3074571	single nucleotide variant	NM_020433.5(JPH2):c.711G>C (p.Thr237=)	Cardiovascular phenotype [RCV004992796]\|Hypertrophic cardiomyopathy [RCV003749735]	likely benign	20	44160076	44160076	Human	2	name
405172666	CV3150092	single nucleotide variant	NM_020433.5(JPH2):c.738C>G (p.Val246=)	Hypertrophic cardiomyopathy [RCV003841563]	likely benign	20	44160049	44160049	Human	2	name
402504479	CV3181470	single nucleotide variant	NM_020433.5(JPH2):c.963C>T (p.Asn321=)	Hypertrophic cardiomyopathy [RCV003878304]	likely benign	20	44159824	44159824	Human	2	name
405725958	CV3381819	single nucleotide variant	NM_020433.5(JPH2):c.537T>A (p.Ser179=)	Cardiovascular phenotype [RCV004524507]	likely benign	20	44160250	44160250	Human		name
405725968	CV3381821	single nucleotide variant	NM_020433.5(JPH2):c.76C>T (p.His26Tyr)	Cardiovascular phenotype [RCV004524509]\|Hypertrophic cardiomyopathy [RCV005100612]	uncertain significance	20	44186630	44186630	Human	2	name
405725987	CV3381824	single nucleotide variant	NM_020433.5(JPH2):c.879C>T (p.Gly293=)	Cardiovascular phenotype [RCV004524512]	likely benign	20	44159908	44159908	Human		name
405725992	CV3381825	single nucleotide variant	NM_020433.5(JPH2):c.981C>T (p.Gly327=)	Cardiovascular phenotype [RCV004524513]	likely benign	20	44159806	44159806	Human		name
407483476	CV3414316	single nucleotide variant	NM_020433.5(JPH2):c.573C>A (p.Pro191=)	Hypertrophic cardiomyopathy 2 [RCV004596652]	likely benign	20	44160214	44160214	Human	1	name
597718217	CV3691387	single nucleotide variant	NM_020433.5(JPH2):c.591T>C (p.Arg197=)	Cardiovascular phenotype [RCV004991824]	likely benign	20	44160196	44160196	Human		name
597718222	CV3691388	single nucleotide variant	NM_020433.5(JPH2):c.633C>G (p.Ala211=)	Cardiovascular phenotype [RCV004991825]	likely benign	20	44160154	44160154	Human		name
597718238	CV3691393	single nucleotide variant	NM_020433.5(JPH2):c.579C>G (p.Pro193=)	Cardiovascular phenotype [RCV004991829]	likely benign	20	44160208	44160208	Human		name
597718267	CV3691402	single nucleotide variant	NM_020433.5(JPH2):c.579C>A (p.Pro193=)	Cardiovascular phenotype [RCV004991837]	likely benign	20	44160208	44160208	Human		name
597718282	CV3691408	single nucleotide variant	NM_020433.5(JPH2):c.426A>C (p.Gly142=)	Cardiovascular phenotype [RCV004991841]	likely benign	20	44160361	44160361	Human		name
597718293	CV3691411	single nucleotide variant	NM_020433.5(JPH2):c.429A>G (p.Val143=)	Cardiovascular phenotype [RCV004991844]	likely benign	20	44160358	44160358	Human		name
597718296	CV3691412	single nucleotide variant	NM_020433.5(JPH2):c.417T>C (p.His139=)	Cardiovascular phenotype [RCV004991845]	likely benign	20	44160370	44160370	Human		name
597718303	CV3691413	single nucleotide variant	NM_020433.5(JPH2):c.489G>C (p.Leu163=)	Cardiovascular phenotype [RCV004991846]	likely benign	20	44160298	44160298	Human		name
597718306	CV3691414	single nucleotide variant	NM_020433.5(JPH2):c.537T>G (p.Ser179=)	Cardiovascular phenotype [RCV004991847]	likely benign	20	44160250	44160250	Human		name
597718328	CV3691421	single nucleotide variant	NM_020433.5(JPH2):c.621T>C (p.Asn207=)	Cardiovascular phenotype [RCV004991853]	likely benign	20	44160166	44160166	Human		name
597718356	CV3691429	single nucleotide variant	NM_020433.5(JPH2):c.831A>C (p.Ala277=)	Cardiovascular phenotype [RCV004991860]	likely benign	20	44159956	44159956	Human		name
597844129	CV3736084	single nucleotide variant	NM_020433.5(JPH2):c.960C>T (p.Asp320=)	Hypertrophic cardiomyopathy [RCV005065432]	likely benign	20	44159827	44159827	Human	2	name
597873443	CV3747330	single nucleotide variant	NM_020433.5(JPH2):c.741C>T (p.Ser247=)	Hypertrophic cardiomyopathy [RCV005069014]	likely benign	20	44160046	44160046	Human	2	name
597967970	CV3752147	single nucleotide variant	NM_020433.5(JPH2):c.357C>A (p.Gly119=)	Hypertrophic cardiomyopathy [RCV005083341]	likely benign	20	44186349	44186349	Human	2	name
597923964	CV3772497	single nucleotide variant	NM_020433.5(JPH2):c.29A>G (p.Asp10Gly)	Hypertrophic cardiomyopathy [RCV005115647]	uncertain significance	20	44186677	44186677	Human	2	name
12846376	CV378027	single nucleotide variant	NM_020433.5(JPH2):c.819C>A (p.Ala273=)	Cardiovascular phenotype [RCV002429382]\|Hypertrophic cardiomyopathy [RCV000471229]\|not specified [RCV000441522]	likely benign	20	44159968	44159968	Human	2	name
12842035	CV378033	single nucleotide variant	NM_020433.5(JPH2):c.702G>A (p.Glu234=)	Cardiovascular phenotype [RCV003168636]\|Hypertrophic cardiomyopathy [RCV000531750]\|not specified [RCV000433678]	likely benign	20	44160085	44160085	Human	2	name
12846824	CV378035	single nucleotide variant	NM_020433.5(JPH2):c.531G>A (p.Pro177=)	Cardiovascular phenotype [RCV002348199]\|Hypertrophic cardiomyopathy [RCV001071019]\|not provided [RCV001720239]	likely benign\|uncertain significance	20	44160256	44160256	Human	2	name
597848913	CV3793025	single nucleotide variant	NM_020433.5(JPH2):c.38C>T (p.Ala13Val)	Hypertrophic cardiomyopathy [RCV005145161]	uncertain significance	20	44186668	44186668	Human	2	name
597889072	CV3856011	single nucleotide variant	NM_020433.5(JPH2):c.615G>A (p.Leu205=)	Hypertrophic cardiomyopathy [RCV005200256]	likely benign	20	44160172	44160172	Human	2	name
598122408	CV3884381	single nucleotide variant	NM_020433.5(JPH2):c.54G>A (p.Trp18Ter)	Cardiomyopathy [RCV005237072]	pathogenic	20	44186652	44186652	Human	2	name
598258828	CV3969447	single nucleotide variant	NM_020433.5(JPH2):c.864C>T (p.Thr288=)	Cardiovascular phenotype [RCV005347283]	likely benign	20	44159923	44159923	Human		name
598258841	CV3969454	single nucleotide variant	NM_020433.5(JPH2):c.735T>A (p.Arg245=)	Cardiovascular phenotype [RCV005347287]	likely benign	20	44160052	44160052	Human		name
12890211	CV403635	single nucleotide variant	NM_020433.5(JPH2):c.579C>T (p.Pro193=)	Cardiovascular phenotype [RCV000621451]\|Hypertrophic cardiomyopathy 17 [RCV002496792]\|Hypertrophic cardiomyopathy [RCV001476803]	likely benign	20	44160208	44160208	Human	4	name
12885202	CV404170	single nucleotide variant	NM_020433.5(JPH2):c.909C>T (p.Phe303=)	Hypertrophic cardiomyopathy [RCV000464904]	likely benign	20	44159878	44159878	Human	2	name
13466733	CV469364	single nucleotide variant	NM_020433.5(JPH2):c.891C>T (p.Asn297=)	Cardiovascular phenotype [RCV004023695]\|Hypertrophic cardiomyopathy [RCV001504919]	likely benign	20	44159896	44159896	Human	2	name
13499205	CV470388	single nucleotide variant	NM_020433.5(JPH2):c.978T>C (p.Tyr326=)	Cardiovascular phenotype [RCV002384032]\|Hypertrophic cardiomyopathy [RCV000531959]\|not provided [RCV001530654]	likely benign	20	44159809	44159809	Human	2	name
13526970	CV497866	single nucleotide variant	NM_020433.5(JPH2):c.363G>A (p.Glu121=)	Cardiovascular phenotype [RCV000618167]\|not specified [RCV000604835]	likely benign	20	44186343	44186343	Human		name
13532740	CV507330	single nucleotide variant	NM_020433.5(JPH2):c.576G>A (p.Ser192=)	Cardiovascular phenotype [RCV002358682]\|Hypertrophic cardiomyopathy [RCV002063016]\|not provided [RCV001712624]	likely benign	20	44160211	44160211	Human	2	name
13528927	CV508183	single nucleotide variant	NM_020433.5(JPH2):c.717G>A (p.Val239=)	not specified [RCV000605586]	likely benign	20	44160070	44160070	Human		name
13539547	CV508189	single nucleotide variant	NM_020433.5(JPH2):c.327C>A (p.Thr109=)	Cardiovascular phenotype [RCV002325173]\|Hypertrophic cardiomyopathy [RCV001397976]\|not specified [RCV000613433]	likely benign	20	44186379	44186379	Human	2	name
13528551	CV508934	single nucleotide variant	NM_020433.5(JPH2):c.810C>A (p.Ala270=)	Cardiovascular phenotype [RCV003302962]\|Hypertrophic cardiomyopathy 17 [RCV000607461]\|Hypertrophic cardiomyopathy [RCV002066916]\|not provided [RCV001576331]\|not specified [RCV001700245]	benign\|likely benign	20	44159977	44159977	Human	3	name
13528363	CV510837	single nucleotide variant	NM_020433.5(JPH2):c.783G>C (p.Ala261=)	Cardiovascular phenotype [RCV000620694]\|Hypertrophic cardiomyopathy [RCV001435324]\|JPH2-related disorder [RCV003945565]\|not provided [RCV001558188]\|not specified [RCV001729663]	benign\|likely benign	20	44160004	44160004	Human	3	name , trait , alternate_id
13528032	CV510838	single nucleotide variant	NM_020433.5(JPH2):c.687G>A (p.Lys229=)	Cardiovascular phenotype [RCV000620462]	likely benign	20	44160100	44160100	Human		name
13525741	CV511140	single nucleotide variant	NM_020433.5(JPH2):c.58G>A (p.Gly20Arg)	Hypertrophic cardiomyopathy [RCV005091798]\|Primary familial hypertrophic cardiomyopathy [RCV000622465]	uncertain significance	20	44186648	44186648	Human	3	name
13609594	CV533520	single nucleotide variant	NM_020433.5(JPH2):c.942C>T (p.Tyr314=)	Hypertrophic cardiomyopathy [RCV001448352]	likely benign	20	44159845	44159845	Human	2	name
13807783	CV572901	single nucleotide variant	NM_020433.5(JPH2):c.92G>A (p.Gly31Asp)	Cardiovascular phenotype [RCV003362909]\|Hypertrophic cardiomyopathy [RCV000701324]	uncertain significance	20	44186614	44186614	Human	2	name
13812609	CV575106	single nucleotide variant	NM_020433.5(JPH2):c.98A>G (p.Lys33Arg)	Hypertrophic cardiomyopathy [RCV000703807]	uncertain significance	20	44186608	44186608	Human	2	name
15128648	CV684883	single nucleotide variant	NM_020433.5(JPH2):c.996C>T (p.Pro332=)	Cardiovascular phenotype [RCV004994076]\|Hypertrophic cardiomyopathy [RCV001493821]	likely benign	20	44159791	44159791	Human	2	name
39458107	CV694552	single nucleotide variant	NM_020433.5(JPH2):c.669G>A (p.Arg223=)	Cardiovascular phenotype [RCV002366098]\|Hypertrophic cardiomyopathy [RCV001474574]	likely benign	20	44160118	44160118	Human	2	name
21068275	CV797985	single nucleotide variant	NM_020433.5(JPH2):c.405C>T (p.Asn135=)	Cardiovascular phenotype [RCV002320212]\|Hypertrophic cardiomyopathy [RCV001409012]	likely benign\|uncertain significance	20	44160382	44160382	Human	2	name
38484119	CV929195	single nucleotide variant	NM_020433.5(JPH2):c.504C>T (p.Ser168=)	Hypertrophic cardiomyopathy [RCV001219263]	likely benign\|uncertain significance	20	44160283	44160283	Human	2	name
8642865	CV101849	single nucleotide variant	NM_020433.5(JPH2):c.1665G>A (p.Ser555=)	not provided [RCV000082006]	uncertain significance	20	44116010	44116010	Human		name
126764868	CV1034707	single nucleotide variant	NM_020433.5(JPH2):c.229A>G (p.Lys77Glu)	Hypertrophic cardiomyopathy [RCV001341815]	uncertain significance	20	44186477	44186477	Human	2	name
127276962	CV1085338	single nucleotide variant	NM_020433.5(JPH2):c.1435C>A (p.Arg479=)	Cardiovascular phenotype [RCV004038024]\|Hypertrophic cardiomyopathy [RCV001407476]	likely benign	20	44116240	44116240	Human	2	name
127242153	CV1085339	single nucleotide variant	NM_020433.5(JPH2):c.1326C>T (p.Ile442=)	Hypertrophic cardiomyopathy [RCV001393294]	likely benign	20	44116349	44116349	Human	2	name
127247332	CV1107047	single nucleotide variant	NM_020433.5(JPH2):c.1977A>G (p.Ala659=)	Cardiovascular phenotype [RCV002420952]\|Hypertrophic cardiomyopathy [RCV001424673]	likely benign	20	44115698	44115698	Human	2	name
127238157	CV1107048	single nucleotide variant	NM_020433.5(JPH2):c.1812G>T (p.Leu604=)	Cardiovascular phenotype [RCV004038205]\|Hypertrophic cardiomyopathy [RCV001422827]	likely benign	20	44115863	44115863	Human	2	name
127255215	CV1107049	single nucleotide variant	NM_020433.5(JPH2):c.1740C>A (p.Pro580=)	Cardiovascular phenotype [RCV002404997]\|Hypertrophic cardiomyopathy [RCV001426494]	likely benign	20	44115935	44115935	Human	2	name
127268262	CV1107050	single nucleotide variant	NM_020433.5(JPH2):c.1587C>A (p.Gly529=)	Hypertrophic cardiomyopathy [RCV001429905]	likely benign	20	44116088	44116088	Human	2	name
127242888	CV1107051	single nucleotide variant	NM_020433.5(JPH2):c.1539C>T (p.Asn513=)	Cardiovascular phenotype [RCV004995811]\|Hypertrophic cardiomyopathy [RCV001434729]	likely benign	20	44116136	44116136	Human	2	name
127239480	CV1107052	single nucleotide variant	NM_020433.5(JPH2):c.1437G>T (p.Arg479=)	Hypertrophic cardiomyopathy [RCV001433977]	likely benign	20	44116238	44116238	Human	2	name
127235922	CV1107053	single nucleotide variant	NM_020433.5(JPH2):c.1272G>A (p.Pro424=)	Cardiovascular phenotype [RCV002449147]\|Hypertrophic cardiomyopathy [RCV001422361]	likely benign	20	44118521	44118521	Human	2	name
127307471	CV1149455	single nucleotide variant	NM_020433.5(JPH2):c.1863G>A (p.Lys621=)	Cardiovascular phenotype [RCV002414208]\|Hypertrophic cardiomyopathy [RCV001500485]	likely benign	20	44115812	44115812	Human	2	name
127307774	CV1149456	single nucleotide variant	NM_020433.5(JPH2):c.1770C>T (p.Ser590=)	Cardiovascular phenotype [RCV004995882]\|Hypertrophic cardiomyopathy [RCV001480395]\|JPH2-related disorder [RCV003965970]	likely benign	20	44115905	44115905	Human	3	name , trait , alternate_id
127328055	CV1149457	single nucleotide variant	NM_020433.5(JPH2):c.1659G>A (p.Ala553=)	Hypertrophic cardiomyopathy [RCV001486586]	likely benign	20	44116016	44116016	Human	2	name
127305900	CV1149458	single nucleotide variant	NM_020433.5(JPH2):c.1041C>A (p.Val347=)	Cardiovascular phenotype [RCV003355500]\|Hypertrophic cardiomyopathy [RCV001500040]	likely benign	20	44159746	44159746	Human	2	name
127322605	CV1158869	single nucleotide variant	NM_020433.5(JPH2):c.1731G>A (p.Glu577=)	Cardiovascular phenotype [RCV002414244]\|Hypertrophic cardiomyopathy [RCV001523586]	benign\|likely benign	20	44115944	44115944	Human	2	name
150438575	CV1274783	single nucleotide variant	NM_020433.5(JPH2):c.1293G>A (p.Pro431=)	Hypertrophic cardiomyopathy [RCV003586303]\|not provided [RCV001703074]	likely benign	20	44116382	44116382	Human	2	name
150520921	CV1289990	single nucleotide variant	NM_020433.5(JPH2):c.1671G>A (p.Glu557=)	Cardiovascular phenotype [RCV002405282]\|Hypertrophic cardiomyopathy [RCV002073425]\|not provided [RCV001730378]\|not specified [RCV001730379]	benign\|likely benign	20	44116004	44116004	Human	2	name
150554964	CV1309954	single nucleotide variant	NM_020433.5(JPH2):c.222A>G (p.Ile74Met)	not provided [RCV003237692]	uncertain significance	20	44186484	44186484	Human		name
151861837	CV1364984	single nucleotide variant	NM_020433.5(JPH2):c.109G>C (p.Glu37Gln)	Hypertrophic cardiomyopathy [RCV002017847]	uncertain significance	20	44186597	44186597	Human	2	name
8691349	CV141309	single nucleotide variant	NM_020433.5(JPH2):c.1179C>T (p.His393=)	Cardiovascular phenotype [RCV000246318]\|Hypertrophic cardiomyopathy 17 [RCV000625201]\|Hypertrophic cardiomyopathy [RCV000860439]\|not provided [RCV004718005]\|not specified [RCV000125445]	benign	20	44118614	44118614	Human	3	name
8691352	CV141312	single nucleotide variant	NM_020433.5(JPH2):c.1728C>G (p.Pro576=)	Cardiovascular phenotype [RCV000245269]\|Hypertrophic cardiomyopathy 17 [RCV000624925]\|Hypertrophic cardiomyopathy [RCV000860421]\|not provided [RCV004717027]\|not specified [RCV000178323]	benign	20	44115947	44115947	Human	3	name
8691353	CV141313	single nucleotide variant	NM_020433.5(JPH2):c.1971G>A (p.Glu657=)	Cardiovascular phenotype [RCV000621962]\|Hypertrophic cardiomyopathy 17 [RCV000606142]\|Hypertrophic cardiomyopathy [RCV000234601]\|not provided [RCV003656628]\|not specified [RCV000125450]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	44115704	44115704	Human	3	name
8691354	CV141314	single nucleotide variant	NM_020433.5(JPH2):c.2073T>C (p.Phe691=)	Cardiovascular phenotype [RCV000253656]\|Hypertrophic cardiomyopathy 17 [RCV000625329]\|Hypertrophic cardiomyopathy [RCV000860420]\|not provided [RCV004717028]\|not specified [RCV000125451]	benign	20	44114814	44114814	Human	3	name
151783551	CV1435104	duplication	NM_020433.5(JPH2):c.364dup (p.Thr122fs)	Hypertrophic cardiomyopathy [RCV001916098]	uncertain significance	20	44186341	44186342	Human	2	name
151806581	CV1462584	single nucleotide variant	NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys)	Cardiovascular phenotype [RCV002443020]\|Hypertrophic cardiomyopathy [RCV001991428]	uncertain significance	20	44186461	44186461	Human	2	name
151808530	CV1483532	single nucleotide variant	NM_020433.5(JPH2):c.277C>T (p.Arg93Cys)	Cardiovascular phenotype [RCV002441016]\|Hypertrophic cardiomyopathy 17 [RCV002478351]\|Hypertrophic cardiomyopathy [RCV001918379]	uncertain significance	20	44186429	44186429	Human	4	name
152092810	CV1531122	single nucleotide variant	NM_020433.5(JPH2):c.1821C>A (p.Pro607=)	Hypertrophic cardiomyopathy [RCV002114307]	likely benign	20	44115854	44115854	Human	2	name
152112013	CV1532149	single nucleotide variant	NM_020433.5(JPH2):c.1512C>T (p.Asp504=)	Cardiovascular phenotype [RCV003308005]\|Hypertrophic cardiomyopathy [RCV002116669]	likely benign	20	44116163	44116163	Human	2	name
152150446	CV1559479	single nucleotide variant	NM_020433.5(JPH2):c.1989G>A (p.Glu663=)	Hypertrophic cardiomyopathy [RCV002220728]	likely benign	20	44115686	44115686	Human	2	name
152037892	CV1576525	single nucleotide variant	NM_020433.5(JPH2):c.1788C>T (p.Pro596=)	Hypertrophic cardiomyopathy [RCV002107295]	likely benign	20	44115887	44115887	Human	2	name
152146384	CV1590460	single nucleotide variant	NM_020433.5(JPH2):c.1893C>T (p.Ala631=)	Hypertrophic cardiomyopathy [RCV002220111]	likely benign	20	44115782	44115782	Human	2	name
152110305	CV1603487	single nucleotide variant	NM_020433.5(JPH2):c.1551C>T (p.Ser517=)	Cardiovascular phenotype [RCV004044910]\|Hypertrophic cardiomyopathy [RCV002096758]	likely benign	20	44116124	44116124	Human	2	name
152159254	CV1605723	single nucleotide variant	NM_020433.5(JPH2):c.1992G>A (p.Ala664=)	Cardiovascular phenotype [RCV002416420]\|Hypertrophic cardiomyopathy [RCV002103479]\|not specified [RCV005405834]	likely benign	20	44115683	44115683	Human	2	name
152087496	CV1608544	single nucleotide variant	NM_020433.5(JPH2):c.1317G>A (p.Leu439=)	Cardiovascular phenotype [RCV002382303]\|Hypertrophic cardiomyopathy [RCV002212250]	likely benign	20	44116358	44116358	Human	2	name
152107134	CV1639136	single nucleotide variant	NM_020433.5(JPH2):c.1155G>A (p.Glu385=)	Hypertrophic cardiomyopathy [RCV002152556]	likely benign	20	44159632	44159632	Human	2	name
152038285	CV1642079	single nucleotide variant	NM_020433.5(JPH2):c.1851G>A (p.Glu617=)	Cardiovascular phenotype [RCV002409507]\|Hypertrophic cardiomyopathy [RCV002107352]\|not provided [RCV003222391]\|not specified [RCV005405837]	likely benign	20	44115824	44115824	Human	2	name
152056147	CV1662827	single nucleotide variant	NM_020433.5(JPH2):c.1836C>G (p.Pro612=)	Cardiovascular phenotype [RCV003308022]\|Hypertrophic cardiomyopathy [RCV002146255]	likely benign	20	44115839	44115839	Human	2	name
155689475	CV1784847	single nucleotide variant	NM_020433.5(JPH2):c.1128C>A (p.Ala376=)	Cardiovascular phenotype [RCV002319882]	likely benign	20	44159659	44159659	Human		name
155695678	CV1793919	single nucleotide variant	NM_020433.5(JPH2):c.1161C>T (p.Ala387=)	Cardiovascular phenotype [RCV002357801]\|Hypertrophic cardiomyopathy [RCV003094479]\|not specified [RCV005405888]	likely benign	20	44159626	44159626	Human	2	name
155682255	CV1795729	single nucleotide variant	NM_020433.5(JPH2):c.1011G>A (p.Glu337=)	Cardiovascular phenotype [RCV002457017]	likely benign	20	44159776	44159776	Human		name
155715052	CV1815449	single nucleotide variant	NM_020433.5(JPH2):c.101G>A (p.Gly34Asp)	Cardiovascular phenotype [RCV002362243]	uncertain significance	20	44186605	44186605	Human		name
155687631	CV1816037	single nucleotide variant	NM_020433.5(JPH2):c.1020G>A (p.Lys340=)	Cardiovascular phenotype [RCV002391536]	likely benign	20	44159767	44159767	Human		name
155732645	CV1826464	single nucleotide variant	NM_020433.5(JPH2):c.1359C>T (p.Pro453=)	Cardiovascular phenotype [RCV002383421]	likely benign	20	44116316	44116316	Human		name
155691667	CV1827328	single nucleotide variant	NM_020433.5(JPH2):c.1041C>T (p.Val347=)	Cardiovascular phenotype [RCV002392224]	likely benign	20	44159746	44159746	Human		name
155722339	CV1828266	single nucleotide variant	NM_020433.5(JPH2):c.1674G>T (p.Pro558=)	Cardiovascular phenotype [RCV002405922]	likely benign	20	44116001	44116001	Human		name
155701499	CV1828676	single nucleotide variant	NM_020433.5(JPH2):c.1755C>T (p.Pro585=)	Cardiovascular phenotype [RCV002401605]	likely benign	20	44115920	44115920	Human		name
155719043	CV1830514	single nucleotide variant	NM_020433.5(JPH2):c.1563C>T (p.Ser521=)	Cardiovascular phenotype [RCV002405470]	likely benign	20	44116112	44116112	Human		name
155737975	CV1831823	single nucleotide variant	NM_020433.5(JPH2):c.1809G>A (p.Pro603=)	Cardiovascular phenotype [RCV002410120]\|Hypertrophic cardiomyopathy [RCV003097261]	likely benign	20	44115866	44115866	Human	2	name
155669924	CV1832240	single nucleotide variant	NM_020433.5(JPH2):c.1314G>A (p.Leu438=)	Cardiovascular phenotype [RCV002385537]\|Hypertrophic cardiomyopathy [RCV003748418]	likely benign	20	44116361	44116361	Human	2	name
155719589	CV1835646	single nucleotide variant	NM_020433.5(JPH2):c.1296A>G (p.Glu432=)	Cardiovascular phenotype [RCV002380647]	likely benign	20	44116379	44116379	Human		name
155733982	CV1836246	single nucleotide variant	NM_020433.5(JPH2):c.1374C>A (p.Gly458=)	Cardiovascular phenotype [RCV002383765]	likely benign	20	44116301	44116301	Human		name
155699511	CV1836542	single nucleotide variant	NM_020433.5(JPH2):c.1440C>T (p.Pro480=)	Cardiovascular phenotype [RCV002394354]\|Hypertrophic cardiomyopathy [RCV005058622]	likely benign	20	44116235	44116235	Human	2	name
155700904	CV1836823	single nucleotide variant	NM_020433.5(JPH2):c.1452C>T (p.Ser484=)	Cardiovascular phenotype [RCV002394636]	likely benign	20	44116223	44116223	Human		name
155731034	CV1838301	single nucleotide variant	NM_020433.5(JPH2):c.1764G>A (p.Glu588=)	Cardiovascular phenotype [RCV002407629]\|Hypertrophic cardiomyopathy [RCV003097226]	likely benign	20	44115911	44115911	Human	2	name
155713641	CV1838531	single nucleotide variant	NM_020433.5(JPH2):c.1776C>T (p.Ser592=)	Cardiovascular phenotype [RCV002403988]	likely benign	20	44115899	44115899	Human		name
155743201	CV1839310	single nucleotide variant	NM_020433.5(JPH2):c.1836C>A (p.Pro612=)	Cardiovascular phenotype [RCV002412729]\|Hypertrophic cardiomyopathy [RCV003100879]	likely benign	20	44115839	44115839	Human	2	name
155743619	CV1839489	single nucleotide variant	NM_020433.5(JPH2):c.1845A>C (p.Ala615=)	Cardiovascular phenotype [RCV002412908]	likely benign	20	44115830	44115830	Human		name
155677337	CV1839981	single nucleotide variant	NM_020433.5(JPH2):c.1077C>T (p.Ser359=)	Cardiovascular phenotype [RCV002421933]	likely benign	20	44159710	44159710	Human		name
155677373	CV1839992	single nucleotide variant	NM_020433.5(JPH2):c.205C>T (p.Arg69Trp)	Cardiovascular phenotype [RCV002421944]	uncertain significance	20	44186501	44186501	Human		name
155740336	CV1846282	single nucleotide variant	NM_020433.5(JPH2):c.1933C>T (p.Leu645=)	Cardiovascular phenotype [RCV002410951]	likely benign	20	44115742	44115742	Human		name
155669645	CV1846777	single nucleotide variant	NM_020433.5(JPH2):c.202A>C (p.Lys68Gln)	Cardiovascular phenotype [RCV002419748]	uncertain significance	20	44186504	44186504	Human		name
155685771	CV1846806	single nucleotide variant	NM_020433.5(JPH2):c.107G>A (p.Gly36Asp)	Cardiovascular phenotype [RCV002424365]\|JPH2-related disorder [RCV003403822]	uncertain significance	20	44186599	44186599	Human	1	name , trait , alternate_id
155725219	CV1851856	single nucleotide variant	NM_020433.5(JPH2):c.253G>A (p.Glu85Lys)	Cardiovascular phenotype [RCV002433223]	uncertain significance	20	44186453	44186453	Human		name
155715717	CV1853930	single nucleotide variant	NM_020433.5(JPH2):c.272A>G (p.Lys91Arg)	Cardiovascular phenotype [RCV002431355]	uncertain significance	20	44186434	44186434	Human		name
155664842	CV1855279	single nucleotide variant	NM_020433.5(JPH2):c.283G>A (p.Gly95Arg)	Cardiovascular phenotype [RCV002435235]\|Hypertrophic cardiomyopathy [RCV005098310]	uncertain significance	20	44186423	44186423	Human	2	name
156360627	CV1908516	single nucleotide variant	NM_020433.5(JPH2):c.1944G>A (p.Ala648=)	Hypertrophic cardiomyopathy [RCV002602468]	likely benign	20	44115731	44115731	Human	2	name
10052208	CV194483	single nucleotide variant	NM_020433.5(JPH2):c.1380G>A (p.Ala460=)	Cardiovascular phenotype [RCV000617546]\|Hypertrophic cardiomyopathy 17 [RCV000607692]\|Hypertrophic cardiomyopathy [RCV001089382]\|JPH2-related disorder [RCV003927660]\|not provided [RCV000724582]\|not specified [RCV000178322]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44116295	44116295	Human	3	name , trait , alternate_id
155918772	CV1981114	single nucleotide variant	NM_020433.5(JPH2):c.176C>A (p.Thr59Asn)	Hypertrophic cardiomyopathy [RCV002614447]	uncertain significance	20	44186530	44186530	Human	2	name
10055788	CV198538	single nucleotide variant	NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)	Cardiovascular phenotype [RCV000620653]\|Hypertrophic cardiomyopathy 17 [RCV000625203]\|Hypertrophic cardiomyopathy [RCV000525610]\|JPH2-related disorder [RCV003927714]\|not provided [RCV001699058]\|not specified [RCV005404354]	likely benign\|uncertain significance	20	44186578	44186578	Human	3	name , trait , alternate_id
156118361	CV2017310	single nucleotide variant	NM_020433.5(JPH2):c.1896G>A (p.Glu632=)	Hypertrophic cardiomyopathy [RCV002740103]	likely benign	20	44115779	44115779	Human	2	name
156135064	CV2022909	single nucleotide variant	NM_020433.5(JPH2):c.235C>T (p.Arg79Cys)	Hypertrophic cardiomyopathy [RCV002740700]	uncertain significance	20	44186471	44186471	Human	2	name
156191528	CV2037975	single nucleotide variant	NM_020433.5(JPH2):c.1911C>T (p.Ala637=)	Hypertrophic cardiomyopathy [RCV002765926]	likely benign	20	44115764	44115764	Human	2	name
156213512	CV2038885	single nucleotide variant	NM_020433.5(JPH2):c.1581C>A (p.Ser527=)	Hypertrophic cardiomyopathy [RCV002766695]	likely benign	20	44116094	44116094	Human	2	name
155940279	CV2054903	single nucleotide variant	NM_020433.5(JPH2):c.1516C>T (p.Leu506=)	Hypertrophic cardiomyopathy [RCV002815647]	likely benign	20	44116159	44116159	Human	2	name
156021143	CV2082709	single nucleotide variant	NM_020433.5(JPH2):c.2070C>T (p.Leu690=)	Hypertrophic cardiomyopathy [RCV002884963]	likely benign	20	44114817	44114817	Human	2	name
156083593	CV2094945	single nucleotide variant	NM_020433.5(JPH2):c.1464C>G (p.Ala488=)	Cardiovascular phenotype [RCV003358012]\|Hypertrophic cardiomyopathy [RCV002912783]	likely benign	20	44116211	44116211	Human	2	name
156227787	CV2115447	single nucleotide variant	NM_020433.5(JPH2):c.1353G>A (p.Glu451=)	Cardiovascular phenotype [RCV003367905]\|Hypertrophic cardiomyopathy [RCV002932707]	likely benign	20	44116322	44116322	Human	2	name
155952002	CV2123567	single nucleotide variant	NM_020433.5(JPH2):c.1473C>G (p.Pro491=)	Hypertrophic cardiomyopathy [RCV002971918]	likely benign	20	44116202	44116202	Human	2	name
10407192	CV213469	single nucleotide variant	NM_020433.5(JPH2):c.1974C>T (p.Ala658=)	Cardiovascular phenotype [RCV002415851]\|Hypertrophic cardiomyopathy [RCV001472736]\|JPH2-related disorder [RCV004748653]\|not provided [RCV000199626]\|not specified [RCV001699231]	likely pathogenic\|benign\|likely benign	20	44115701	44115701	Human	3	name , trait , alternate_id
10407169	CV213470	single nucleotide variant	NM_020433.5(JPH2):c.1704C>T (p.Ser568=)	Cardiovascular phenotype [RCV002408877]\|Hypertrophic cardiomyopathy [RCV000198578]\|not specified [RCV000600661]	benign\|likely benign	20	44115971	44115971	Human	2	name
156092956	CV2167162	single nucleotide variant	NM_020433.5(JPH2):c.1386C>T (p.Leu462=)	Hypertrophic cardiomyopathy [RCV003038285]	likely benign	20	44116289	44116289	Human	2	name
156301259	CV2170235	single nucleotide variant	NM_020433.5(JPH2):c.1872C>G (p.Pro624=)	Hypertrophic cardiomyopathy [RCV003045562]	likely benign	20	44115803	44115803	Human	2	name
156338853	CV2179596	single nucleotide variant	NM_020433.5(JPH2):c.1089C>T (p.Arg363=)	Hypertrophic cardiomyopathy [RCV003030173]	likely benign	20	44159698	44159698	Human	2	name
243063956	CV2405577	single nucleotide variant	NM_020433.5(JPH2):c.1674G>A (p.Pro558=)	Cardiovascular phenotype [RCV004246005]\|Hypertrophic cardiomyopathy [RCV005099300]\|JPH2-related disorder [RCV003900962]\|not provided [RCV003142590]	likely benign\|uncertain significance	20	44116001	44116001	Human	3	name , trait , alternate_id
329357748	CV2422156	single nucleotide variant	NM_020433.5(JPH2):c.1677G>A (p.Glu559=)	Cardiovascular phenotype [RCV003164997]\|Hypertrophic cardiomyopathy [RCV003748460]	likely benign	20	44115998	44115998	Human	2	name
329380076	CV2426385	single nucleotide variant	NM_020433.5(JPH2):c.1857C>T (p.Pro619=)	Cardiovascular phenotype [RCV003187441]	likely benign	20	44115818	44115818	Human		name
329380084	CV2426389	single nucleotide variant	NM_020433.5(JPH2):c.1779G>A (p.Glu593=)	Cardiovascular phenotype [RCV003187445]	likely benign	20	44115896	44115896	Human		name
329380092	CV2426395	single nucleotide variant	NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)	Cardiovascular phenotype [RCV003187451]	uncertain significance	20	44186471	44186471	Human		name
11552043	CV259062	single nucleotide variant	NM_020433.5(JPH2):c.1344C>T (p.Ser448=)	Cardiovascular phenotype [RCV000253855]\|Hypertrophic cardiomyopathy [RCV002058497]	likely benign	20	44116331	44116331	Human	2	name
11547275	CV259064	single nucleotide variant	NM_020433.5(JPH2):c.1794C>A (p.Ser598=)	Cardiovascular phenotype [RCV000247550]\|Hypertrophic cardiomyopathy 17 [RCV000610898]\|Hypertrophic cardiomyopathy [RCV000472171]\|not provided [RCV001699419]\|not specified [RCV000435070]	benign\|likely benign	20	44115881	44115881	Human	3	name
401720859	CV2702163	single nucleotide variant	NM_020433.5(JPH2):c.266G>A (p.Gly89Asp)	Cardiovascular phenotype [RCV004314513]\|Hypertrophic cardiomyopathy [RCV003748474]	uncertain significance	20	44186440	44186440	Human	2	name
401828716	CV2743051	single nucleotide variant	NM_020433.5(JPH2):c.109G>A (p.Glu37Lys)	Hypertrophic cardiomyopathy [RCV003748486]\|not provided [RCV003325759]	uncertain significance	20	44186597	44186597	Human	2	name
401889264	CV2760576	single nucleotide variant	NM_020433.5(JPH2):c.1374C>T (p.Gly458=)	Cardiovascular phenotype [RCV003368355]	likely benign	20	44116301	44116301	Human		name
401889268	CV2760579	single nucleotide variant	NM_020433.5(JPH2):c.1521G>A (p.Leu507=)	Cardiovascular phenotype [RCV003368358]	likely benign	20	44116154	44116154	Human		name
401862154	CV2760582	single nucleotide variant	NM_020433.5(JPH2):c.1950C>A (p.Ala650=)	Cardiovascular phenotype [RCV003358325]	likely benign	20	44115725	44115725	Human		name
401862156	CV2760583	single nucleotide variant	NM_020433.5(JPH2):c.1950C>T (p.Ala650=)	Cardiovascular phenotype [RCV003358326]	likely benign	20	44115725	44115725	Human		name
401889270	CV2760584	single nucleotide variant	NM_020433.5(JPH2):c.1653G>A (p.Pro551=)	Cardiovascular phenotype [RCV003368360]	likely benign	20	44116022	44116022	Human		name
401886367	CV2790256	single nucleotide variant	NM_020433.5(JPH2):c.1950C>G (p.Ala650=)	Cardiovascular phenotype [RCV003386993]	likely benign	20	44115725	44115725	Human		name
401961186	CV2844568	single nucleotide variant	NM_020433.5(JPH2):c.236G>C (p.Arg79Pro)	not provided [RCV003480364]	uncertain significance	20	44186470	44186470	Human		name
405169938	CV2902594	single nucleotide variant	NM_020433.5(JPH2):c.296G>A (p.Ser99Asn)	Hypertrophic cardiomyopathy [RCV003587500]	uncertain significance	20	44186410	44186410	Human	2	name
405174075	CV2908979	single nucleotide variant	NM_020433.5(JPH2):c.1140G>A (p.Ala380=)	Cardiovascular phenotype [RCV004634295]\|Hypertrophic cardiomyopathy [RCV003587730]	likely benign	20	44159647	44159647	Human	2	name
405173260	CV2921082	single nucleotide variant	NM_020433.5(JPH2):c.1017C>G (p.Gly339=)	Hypertrophic cardiomyopathy [RCV003587830]	likely benign	20	44159770	44159770	Human	2	name
405173473	CV2924692	single nucleotide variant	NM_020433.5(JPH2):c.211G>T (p.Gly71Trp)	Hypertrophic cardiomyopathy [RCV003587852]	uncertain significance	20	44186495	44186495	Human	2	name
405252621	CV2940481	single nucleotide variant	NM_020433.5(JPH2):c.1363C>A (p.Arg455=)	Hypertrophic cardiomyopathy [RCV003748557]	likely benign	20	44116312	44116312	Human	2	name
405103307	CV2988430	single nucleotide variant	NM_020433.5(JPH2):c.1212C>A (p.Ala404=)	Hypertrophic cardiomyopathy [RCV003749601]	likely benign	20	44118581	44118581	Human	2	name
405104797	CV3004188	single nucleotide variant	NM_020433.5(JPH2):c.296G>C (p.Ser99Thr)	Hypertrophic cardiomyopathy [RCV003750151]	uncertain significance	20	44186410	44186410	Human	2	name
405251869	CV3041436	single nucleotide variant	NM_020433.5(JPH2):c.1173A>G (p.Thr391=)	Hypertrophic cardiomyopathy [RCV003748062]	likely benign	20	44118620	44118620	Human	2	name
405101899	CV3062930	single nucleotide variant	NM_020433.5(JPH2):c.1188C>G (p.Ala396=)	Hypertrophic cardiomyopathy [RCV003749055]	likely benign	20	44118605	44118605	Human	2	name
405103671	CV3074559	single nucleotide variant	NM_020433.5(JPH2):c.1131T>A (p.Ala377=)	Hypertrophic cardiomyopathy [RCV003749734]	likely benign	20	44159656	44159656	Human	2	name
405101997	CV3079003	single nucleotide variant	NM_020433.5(JPH2):c.2013C>G (p.Val671=)	Cardiovascular phenotype [RCV004374289]\|Hypertrophic cardiomyopathy [RCV003749137]	likely benign	20	44114874	44114874	Human	2	name
405116164	CV3115834	single nucleotide variant	NM_020433.5(JPH2):c.1857C>G (p.Pro619=)	Cardiovascular phenotype [RCV005363272]\|Hypertrophic cardiomyopathy [RCV003814324]	likely benign	20	44115818	44115818	Human	2	name
405074863	CV3156108	deletion	NM_020433.5(JPH2):c.560del (p.Gly187fs)	Hypertrophic cardiomyopathy [RCV003851166]	uncertain significance	20	44160227	44160227	Human	2	name
405237363	CV3166869	single nucleotide variant	NM_020433.5(JPH2):c.1311G>T (p.Arg437=)	Hypertrophic cardiomyopathy [RCV003854123]	likely benign	20	44116364	44116364	Human	2	name
402499176	CV3170298	single nucleotide variant	NM_020433.5(JPH2):c.2085G>T (p.Leu695=)	Hypertrophic cardiomyopathy [RCV003877670]	likely benign	20	44114802	44114802	Human	2	name
402521879	CV3179564	single nucleotide variant	NM_020433.5(JPH2):c.1917G>A (p.Lys639=)	Cardiovascular phenotype [RCV004369652]\|Hypertrophic cardiomyopathy [RCV003879816]\|JPH2-related disorder [RCV003966741]	likely benign	20	44115758	44115758	Human	3	name , trait , alternate_id
405269924	CV3198030	single nucleotide variant	NM_020433.5(JPH2):c.1845A>G (p.Ala615=)	JPH2-related disorder [RCV003899840]	likely benign	20	44115830	44115830	Human		name , trait , alternate_id
405728655	CV3235394	single nucleotide variant	NM_020433.5(JPH2):c.1455G>A (p.Pro485=)	Cardiovascular phenotype [RCV004018425]\|Hypertrophic cardiomyopathy [RCV005103368]	likely benign	20	44116220	44116220	Human	2	name
405795884	CV3275621	single nucleotide variant	NM_020433.5(JPH2):c.278G>T (p.Arg93Leu)	Cardiovascular phenotype [RCV004401395]	uncertain significance	20	44186428	44186428	Human		name
405725890	CV3381808	single nucleotide variant	NM_020433.5(JPH2):c.1485G>A (p.Lys495=)	Cardiovascular phenotype [RCV004524496]\|Hypertrophic cardiomyopathy [RCV005100610]	likely benign	20	44116190	44116190	Human	2	name
405725922	CV3381813	single nucleotide variant	NM_020433.5(JPH2):c.1869G>A (p.Glu623=)	Cardiovascular phenotype [RCV004524501]\|Hypertrophic cardiomyopathy [RCV005100611]	likely benign	20	44115806	44115806	Human	2	name
407467082	CV3448151	single nucleotide variant	NM_020433.5(JPH2):c.1530C>T (p.Gly510=)	Cardiovascular phenotype [RCV004635788]	likely benign	20	44116145	44116145	Human		name
407467087	CV3448153	single nucleotide variant	NM_020433.5(JPH2):c.286A>G (p.Ile96Val)	Cardiovascular phenotype [RCV004635790]	uncertain significance	20	44186420	44186420	Human		name
407467091	CV3448155	single nucleotide variant	NM_020433.5(JPH2):c.1041C>G (p.Val347=)	Cardiovascular phenotype [RCV004635792]	likely benign	20	44159746	44159746	Human		name
407467102	CV3448160	single nucleotide variant	NM_020433.5(JPH2):c.121T>C (p.Ser41Pro)	Cardiovascular phenotype [RCV004635797]	uncertain significance	20	44186585	44186585	Human		name
407467107	CV3448162	single nucleotide variant	NM_020433.5(JPH2):c.179T>G (p.Phe60Cys)	Cardiovascular phenotype [RCV004635799]	uncertain significance	20	44186527	44186527	Human		name
407467110	CV3448163	single nucleotide variant	NM_020433.5(JPH2):c.1797G>C (p.Pro599=)	Cardiovascular phenotype [RCV004635800]	likely benign	20	44115878	44115878	Human		name
407467111	CV3448164	single nucleotide variant	NM_020433.5(JPH2):c.1488G>A (p.Arg496=)	Cardiovascular phenotype [RCV004635801]	likely benign	20	44116187	44116187	Human		name
597718271	CV3691403	single nucleotide variant	NM_020433.5(JPH2):c.104A>G (p.Gln35Arg)	Cardiovascular phenotype [RCV004991838]	uncertain significance	20	44186602	44186602	Human		name
597718331	CV3691422	single nucleotide variant	NM_020433.5(JPH2):c.287T>C (p.Ile96Thr)	Cardiovascular phenotype [RCV004991854]	likely benign	20	44186419	44186419	Human		name
597718347	CV3691427	single nucleotide variant	NM_020433.5(JPH2):c.250G>A (p.Gly84Ser)	Cardiovascular phenotype [RCV004991858]	uncertain significance	20	44186456	44186456	Human		name
597841105	CV3752747	single nucleotide variant	NM_020433.5(JPH2):c.1407C>T (p.Ser469=)	Hypertrophic cardiomyopathy [RCV005086476]	likely benign	20	44116268	44116268	Human	2	name
12833759	CV377012	single nucleotide variant	NM_020433.5(JPH2):c.1722G>A (p.Thr574=)	Cardiovascular phenotype [RCV002411385]\|Hypertrophic cardiomyopathy [RCV001474571]\|not specified [RCV000419133]	likely benign	20	44115953	44115953	Human	2	name
12839167	CV377021	single nucleotide variant	NM_020433.5(JPH2):c.1107T>C (p.Ser369=)	Cardiovascular phenotype [RCV000619302]\|Hypertrophic cardiomyopathy [RCV001520678]\|not provided [RCV001723982]\|not specified [RCV000428324]	benign\|likely benign\|conflicting interpretations of pathogenicity	20	44159680	44159680	Human	2	name
12848047	CV378014	single nucleotide variant	NM_020433.5(JPH2):c.1689C>T (p.Tyr563=)	Cardiovascular phenotype [RCV004022469]\|Hypertrophic cardiomyopathy [RCV002059983]\|not specified [RCV000444583]	likely benign	20	44115986	44115986	Human	2	name
12843237	CV378018	single nucleotide variant	NM_020433.5(JPH2):c.1635C>T (p.Ile545=)	not specified [RCV000435869]	likely benign	20	44116040	44116040	Human		name
12842508	CV378023	single nucleotide variant	NM_020433.5(JPH2):c.1476G>T (p.Pro492=)	Cardiovascular phenotype [RCV002393031]\|Hypertrophic cardiomyopathy [RCV002063484]\|not specified [RCV000434545]	likely benign	20	44116199	44116199	Human	2	name
12846038	CV378024	single nucleotide variant	NM_020433.5(JPH2):c.1410G>T (p.Pro470=)	Hypertrophic cardiomyopathy [RCV001488141]\|not specified [RCV000440894]	likely benign	20	44116265	44116265	Human	2	name
12841972	CV378235	single nucleotide variant	NM_020433.5(JPH2):c.1566G>A (p.Arg522=)	Cardiovascular phenotype [RCV000621141]\|Hypertrophic cardiomyopathy 17 [RCV002502508]\|Hypertrophic cardiomyopathy [RCV002062349]\|not provided [RCV001720072]\|not specified [RCV004701465]	benign\|likely benign	20	44116109	44116109	Human	4	name
12839911	CV378238	single nucleotide variant	NM_020433.5(JPH2):c.1137C>A (p.Ile379=)	Cardiovascular phenotype [RCV000618253]\|Hypertrophic cardiomyopathy [RCV000526560]\|not provided [RCV001703849]\|not specified [RCV003330670]	benign\|likely benign	20	44159650	44159650	Human	2	name
597956244	CV3787308	single nucleotide variant	NM_020433.5(JPH2):c.1788C>G (p.Pro596=)	Hypertrophic cardiomyopathy [RCV005122193]	likely benign	20	44115887	44115887	Human	2	name
12846787	CV379697	single nucleotide variant	NM_020433.5(JPH2):c.1662G>A (p.Pro554=)	Cardiovascular phenotype [RCV002402141]\|Hypertrophic cardiomyopathy [RCV002519535]\|not specified [RCV000442301]	likely benign	20	44116013	44116013	Human	2	name
12837239	CV379698	single nucleotide variant	NM_020433.5(JPH2):c.1431C>T (p.Thr477=)	Cardiovascular phenotype [RCV002393050]\|not specified [RCV000424826]	likely benign	20	44116244	44116244	Human		name
597839132	CV3824898	single nucleotide variant	NM_020433.5(JPH2):c.1312C>T (p.Leu438=)	Hypertrophic cardiomyopathy [RCV005171762]	likely benign	20	44116363	44116363	Human	2	name
597971105	CV3832748	single nucleotide variant	NM_020433.5(JPH2):c.221T>C (p.Ile74Thr)	Hypertrophic cardiomyopathy [RCV005166827]	uncertain significance	20	44186485	44186485	Human	2	name
597891541	CV3840149	single nucleotide variant	NM_020433.5(JPH2):c.1014G>A (p.Glu338=)	Hypertrophic cardiomyopathy [RCV005179848]	likely benign	20	44159773	44159773	Human	2	name
597946276	CV3841616	single nucleotide variant	NM_020433.5(JPH2):c.1428G>A (p.Glu476=)	Hypertrophic cardiomyopathy [RCV005189049]	likely benign	20	44116247	44116247	Human	2	name
597912575	CV3850505	single nucleotide variant	NM_020433.5(JPH2):c.1449C>T (p.Gly483=)	Hypertrophic cardiomyopathy [RCV005203654]	likely benign	20	44116226	44116226	Human	2	name
598233728	CV3969457	single nucleotide variant	NM_020433.5(JPH2):c.2001G>A (p.Glu667=)	Cardiovascular phenotype [RCV005363400]	likely benign	20	44115674	44115674	Human		name
12887895	CV403639	single nucleotide variant	NM_020433.5(JPH2):c.164C>T (p.Pro55Leu)	Hypertrophic cardiomyopathy [RCV000469903]	uncertain significance	20	44186542	44186542	Human	2	name
12884197	CV403672	single nucleotide variant	NM_020433.5(JPH2):c.1149G>A (p.Lys383=)	Cardiovascular phenotype [RCV005348135]\|Hypertrophic cardiomyopathy [RCV001413475]	likely benign	20	44159638	44159638	Human	2	name
12881776	CV404154	single nucleotide variant	NM_020433.5(JPH2):c.1803C>T (p.Thr601=)	Hypertrophic cardiomyopathy [RCV001400100]\|not specified [RCV005404591]	likely benign	20	44115872	44115872	Human	2	name
12881051	CV404158	single nucleotide variant	NM_020433.5(JPH2):c.1464C>A (p.Ala488=)	Cardiovascular phenotype [RCV005365299]\|Hypertrophic cardiomyopathy [RCV000457148]\|not provided [RCV000786322]	likely benign\|uncertain significance	20	44116211	44116211	Human	2	name
13207940	CV424551	single nucleotide variant	NM_020433.5(JPH2):c.278G>A (p.Arg93His)	Hypertrophic cardiomyopathy 17 [RCV002481576]\|Primary dilated cardiomyopathy [RCV000492071]\|not provided [RCV000519697]	uncertain significance	20	44186428	44186428	Human	2	name
13488102	CV446245	single nucleotide variant	NM_020433.5(JPH2):c.226A>G (p.Thr76Ala)	Cardiovascular phenotype [RCV005367369]\|Hypertrophic cardiomyopathy 17 [RCV002476061]\|Hypertrophic cardiomyopathy [RCV002527622]\|not provided [RCV000523455]	uncertain significance	20	44186480	44186480	Human	4	name
13487507	CV446246	single nucleotide variant	NM_020433.5(JPH2):c.169G>A (p.Gly57Arg)	Cardiovascular phenotype [RCV004023601]\|not provided [RCV000523248]	uncertain significance	20	44186537	44186537	Human		name
13531388	CV507318	single nucleotide variant	NM_020433.5(JPH2):c.1410G>A (p.Pro470=)	Cardiovascular phenotype [RCV002395557]\|Hypertrophic cardiomyopathy [RCV002062993]\|not provided [RCV000601034]\|not specified [RCV005404727]	benign\|likely benign	20	44116265	44116265	Human	2	name
13531829	CV507753	single nucleotide variant	NM_020433.5(JPH2):c.1581C>G (p.Ser527=)	Cardiovascular phenotype [RCV002404692]\|Hypertrophic cardiomyopathy [RCV002064349]\|not provided [RCV001719072]	likely benign	20	44116094	44116094	Human	2	name
13540113	CV507761	single nucleotide variant	NM_020433.5(JPH2):c.1161C>A (p.Ala387=)	Cardiovascular phenotype [RCV002358715]\|not specified [RCV000614251]	likely benign	20	44159626	44159626	Human		name
13542045	CV507765	single nucleotide variant	NM_020433.5(JPH2):c.1137C>T (p.Ile379=)	not specified [RCV000616988]	likely benign	20	44159650	44159650	Human		name
13528012	CV508181	single nucleotide variant	NM_020433.5(JPH2):c.1890A>G (p.Lys630=)	Cardiovascular phenotype [RCV000620441]\|Hypertrophic cardiomyopathy [RCV001040105]\|not specified [RCV000602240]	likely benign\|uncertain significance	20	44115785	44115785	Human	2	name
13527505	CV510826	single nucleotide variant	NM_020433.5(JPH2):c.1932G>A (p.Gly644=)	Cardiovascular phenotype [RCV000619958]\|JPH2-related disorder [RCV003917979]	likely benign	20	44115743	44115743	Human	1	name , trait , alternate_id
13528583	CV510829	single nucleotide variant	NM_020433.5(JPH2):c.1725G>T (p.Pro575=)	Cardiovascular phenotype [RCV000620838]	likely benign	20	44115950	44115950	Human		name
13533192	CV510832	single nucleotide variant	NM_020433.5(JPH2):c.1233G>A (p.Glu411=)	Cardiovascular phenotype [RCV000617219]\|Hypertrophic cardiomyopathy [RCV001089079]\|not provided [RCV000827152]\|not specified [RCV003330844]	benign\|likely benign	20	44118560	44118560	Human	2	name
13529619	CV510833	single nucleotide variant	NM_020433.5(JPH2):c.1212C>T (p.Ala404=)	Cardiovascular phenotype [RCV000621751]\|Hypertrophic cardiomyopathy [RCV001504424]\|JPH2-related disorder [RCV003928036]	likely benign	20	44118581	44118581	Human	3	name , trait , alternate_id
13534661	CV510834	single nucleotide variant	NM_020433.5(JPH2):c.1203G>A (p.Ala401=)	Cardiovascular phenotype [RCV000618840]\|Hypertrophic cardiomyopathy [RCV000629037]	likely benign	20	44118590	44118590	Human	2	name
13533620	CV510835	single nucleotide variant	NM_020433.5(JPH2):c.1185G>A (p.Lys395=)	Cardiovascular phenotype [RCV000617809]\|not provided [RCV001558684]	likely benign	20	44118608	44118608	Human		name
13542065	CV511138	single nucleotide variant	NM_020433.5(JPH2):c.1758G>A (p.Glu586=)	Hypertrophic cardiomyopathy [RCV001496200]\|not specified [RCV000623213]	likely benign	20	44115917	44115917	Human	2	name
13534055	CV512963	single nucleotide variant	NM_020433.5(JPH2):c.1497C>A (p.Pro499=)	Cardiovascular phenotype [RCV003162763]\|Hypertrophic cardiomyopathy 17 [RCV000625199]\|Hypertrophic cardiomyopathy [RCV003586212]\|not provided [RCV001724103]\|not specified [RCV001701126]	benign\|likely benign	20	44116178	44116178	Human	3	name
13609038	CV533516	single nucleotide variant	NM_020433.5(JPH2):c.1461G>A (p.Pro487=)	Cardiovascular phenotype [RCV003362866]\|Hypertrophic cardiomyopathy 17 [RCV005027740]\|Hypertrophic cardiomyopathy [RCV000628846]	likely benign\|uncertain significance	20	44116214	44116214	Human	4	name
13627160	CV533562	single nucleotide variant	NM_020433.5(JPH2):c.1419C>T (p.His473=)	Cardiovascular phenotype [RCV003278955]\|Hypertrophic cardiomyopathy [RCV000629052]	likely benign	20	44116256	44116256	Human	2	name
13813028	CV573519	single nucleotide variant	NM_020433.5(JPH2):c.290G>A (p.Arg97Gln)	Hypertrophic cardiomyopathy [RCV000689863]	uncertain significance	20	44186416	44186416	Human	2	name
14699463	CV624681	deletion	NM_020433.5(JPH2):c.541del (p.Ala181fs)	not provided [RCV000788832]	uncertain significance	20	44160246	44160246	Human		name
15123500	CV684882	single nucleotide variant	NM_020433.5(JPH2):c.1395G>A (p.Pro465=)	Cardiovascular phenotype [RCV002390742]\|Hypertrophic cardiomyopathy [RCV000862253]\|JPH2-related disorder [RCV003908173]\|not specified [RCV001256952]	likely benign	20	44116280	44116280	Human	3	name , trait , alternate_id
15114438	CV694550	single nucleotide variant	NM_020433.5(JPH2):c.2055C>T (p.Ile685=)	Cardiovascular phenotype [RCV002416058]\|Hypertrophic cardiomyopathy [RCV000872958]	likely benign	20	44114832	44114832	Human	2	name
15107102	CV694551	single nucleotide variant	NM_020433.5(JPH2):c.1348C>T (p.Leu450=)	Cardiovascular phenotype [RCV002381980]\|Hypertrophic cardiomyopathy [RCV001396587]\|not provided [RCV003457880]	likely benign	20	44116327	44116327	Human	2	name
15114966	CV742421	single nucleotide variant	NM_020433.5(JPH2):c.2052C>T (p.Asn684=)	Cardiovascular phenotype [RCV002416105]\|Hypertrophic cardiomyopathy [RCV001391783]	likely benign	20	44114835	44114835	Human	2	name
15180220	CV773108	single nucleotide variant	NM_020433.5(JPH2):c.1251T>G (p.Thr417=)	Hypertrophic cardiomyopathy [RCV000929831]\|not specified [RCV005405412]	likely benign	20	44118542	44118542	Human	2	name
25314998	CV818345	single nucleotide variant	NM_020433.5(JPH2):c.191G>A (p.Trp64Ter)	Hypertrophic cardiomyopathy 17 [RCV001029948]	likely pathogenic	20	44186515	44186515	Human	1	name
26904362	CV848410	single nucleotide variant	NM_020433.5(JPH2):c.289C>T (p.Arg97Trp)	Hypertrophic cardiomyopathy [RCV001053688]	uncertain significance	20	44186417	44186417	Human	2	name
26902077	CV848411	single nucleotide variant	NM_020433.5(JPH2):c.220A>G (p.Ile74Val)	Hypertrophic cardiomyopathy [RCV001045760]	uncertain significance	20	44186486	44186486	Human	2	name
26904076	CV848412	single nucleotide variant	NM_020433.5(JPH2):c.140A>C (p.Glu47Ala)	Hypertrophic cardiomyopathy [RCV001051958]	uncertain significance	20	44186566	44186566	Human	2	name
126747713	CV1014137	single nucleotide variant	NM_020433.5(JPH2):c.307G>A (p.Gly103Ser)	Cardiovascular phenotype [RCV004034350]\|Hypertrophic cardiomyopathy [RCV001315398]	uncertain significance	20	44186399	44186399	Human	2	name
126736307	CV1021990	single nucleotide variant	NM_020433.5(JPH2):c.916A>G (p.Ser306Gly)	Hypertrophic cardiomyopathy 17 [RCV001335053]	uncertain significance	20	44159871	44159871	Human	1	name
126753389	CV1034703	single nucleotide variant	NM_020433.5(JPH2):c.869C>G (p.Thr290Ser)	Hypertrophic cardiomyopathy [RCV001338587]	uncertain significance	20	44159918	44159918	Human	2	name
126749412	CV1034704	single nucleotide variant	NM_020433.5(JPH2):c.854C>A (p.Ala285Asp)	Hypertrophic cardiomyopathy [RCV001337846]	uncertain significance	20	44159933	44159933	Human	2	name
126759404	CV1034705	single nucleotide variant	NM_020433.5(JPH2):c.769G>A (p.Ala257Thr)	Hypertrophic cardiomyopathy [RCV001340120]	uncertain significance	20	44160018	44160018	Human	2	name
126755841	CV1034706	single nucleotide variant	NM_020433.5(JPH2):c.502A>G (p.Ser168Gly)	Cardiovascular phenotype [RCV005405575]\|Hypertrophic cardiomyopathy [RCV001339132]	uncertain significance	20	44160285	44160285	Human	2	name
126923174	CV1051717	single nucleotide variant	NM_020433.5(JPH2):c.829G>T (p.Ala277Ser)	Cardiovascular phenotype [RCV002432029]\|Hypertrophic cardiomyopathy 17 [RCV002493867]\|Hypertrophic cardiomyopathy [RCV001365541]	uncertain significance	20	44159958	44159958	Human	4	name
126915546	CV1051718	single nucleotide variant	NM_020433.5(JPH2):c.580G>T (p.Ala194Ser)	Cardiovascular phenotype [RCV002357264]\|Hypertrophic cardiomyopathy [RCV001370979]	uncertain significance	20	44160207	44160207	Human	2	name
126916043	CV1051719	single nucleotide variant	NM_020433.5(JPH2):c.466C>T (p.Arg156Cys)	Hypertrophic cardiomyopathy [RCV001371270]	uncertain significance	20	44160321	44160321	Human	2	name
150424521	CV1185555	single nucleotide variant	NM_020433.5(JPH2):c.601G>A (p.Ala201Thr)	Cardiovascular phenotype [RCV004631723]\|not provided [RCV001556773]	likely benign\|uncertain significance	20	44160186	44160186	Human		name
150420307	CV1199215	single nucleotide variant	NM_020433.5(JPH2):c.641C>A (p.Ala214Glu)	Cardiovascular phenotype [RCV004039453]\|Hypertrophic cardiomyopathy [RCV002569091]\|not provided [RCV001577554]	uncertain significance	20	44160146	44160146	Human	2	name
150490164	CV1274714	single nucleotide variant	NM_020433.5(JPH2):c.350G>A (p.Gly117Asp)	Cardiovascular phenotype [RCV003163795]\|not provided [RCV001700660]	uncertain significance	20	44186356	44186356	Human		name
150554178	CV1296574	single nucleotide variant	NM_020433.5(JPH2):c.431G>A (p.Arg144His)	Cardiovascular phenotype [RCV002329728]\|not provided [RCV001770811]	uncertain significance	20	44160356	44160356	Human		name
150545793	CV1297602	single nucleotide variant	NM_020433.5(JPH2):c.338G>T (p.Gly113Val)	not provided [RCV001763190]	uncertain significance	20	44186368	44186368	Human		name
150554032	CV1298444	single nucleotide variant	NM_020433.5(JPH2):c.673G>A (p.Ala225Thr)	not provided [RCV001770643]	uncertain significance	20	44160114	44160114	Human		name
150550251	CV1300145	single nucleotide variant	NM_020433.5(JPH2):c.505G>C (p.Glu169Gln)	not provided [RCV001765615]	uncertain significance	20	44160282	44160282	Human		name
150553719	CV1304047	single nucleotide variant	NM_020433.5(JPH2):c.649G>T (p.Gly217Cys)	not provided [RCV001769432]	uncertain significance	20	44160138	44160138	Human		name
150542619	CV1314873	single nucleotide variant	NM_020433.5(JPH2):c.505G>A (p.Glu169Lys)	Hypertrophic cardiomyopathy 17 [RCV002471164]	likely pathogenic\|uncertain significance	20	44160282	44160282	Human	1	name
151862499	CV1338724	single nucleotide variant	NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)	Cardiovascular phenotype [RCV002344109]\|Hypertrophic cardiomyopathy 17 [RCV002507680]\|Hypertrophic cardiomyopathy [RCV001997313]	uncertain significance	20	44160246	44160246	Human	4	name
151851625	CV1391958	single nucleotide variant	NM_020433.5(JPH2):c.756C>A (p.Asp252Glu)	Hypertrophic cardiomyopathy [RCV002033254]	uncertain significance	20	44160031	44160031	Human	2	name
151880066	CV1411228	single nucleotide variant	NM_020433.5(JPH2):c.349G>A (p.Gly117Ser)	Cardiovascular phenotype [RCV002458973]\|Hypertrophic cardiomyopathy [RCV002020022]	uncertain significance	20	44186357	44186357	Human	2	name
151833136	CV1416454	single nucleotide variant	NM_020433.5(JPH2):c.718G>T (p.Gly240Cys)	Hypertrophic cardiomyopathy [RCV002014504]\|not provided [RCV005241483]	uncertain significance	20	44160069	44160069	Human	2	name
151848085	CV1433437	single nucleotide variant	NM_020433.5(JPH2):c.464T>C (p.Val155Ala)	Cardiovascular phenotype [RCV002335024]\|Hypertrophic cardiomyopathy [RCV001978559]	uncertain significance	20	44160323	44160323	Human	2	name
151804279	CV1456912	single nucleotide variant	NM_020433.5(JPH2):c.852C>A (p.Asp284Glu)	Cardiovascular phenotype [RCV003355599]\|Hypertrophic cardiomyopathy [RCV001877653]	uncertain significance	20	44159935	44159935	Human	2	name
151814079	CV1462845	single nucleotide variant	NM_020433.5(JPH2):c.607A>G (p.Ser203Gly)	Hypertrophic cardiomyopathy [RCV002049134]	uncertain significance	20	44160180	44160180	Human	2	name
151777757	CV1466589	single nucleotide variant	NM_020433.5(JPH2):c.958G>A (p.Asp320Asn)	Hypertrophic cardiomyopathy [RCV001896949]	uncertain significance	20	44159829	44159829	Human	2	name
151862105	CV1474164	single nucleotide variant	NM_020433.5(JPH2):c.877G>T (p.Gly293Cys)	Hypertrophic cardiomyopathy [RCV001884052]	uncertain significance	20	44159910	44159910	Human	2	name
151848640	CV1480362	single nucleotide variant	NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)	Cardiovascular phenotype [RCV002370497]\|Hypertrophic cardiomyopathy 17 [RCV002484412]\|Hypertrophic cardiomyopathy 17 [RCV003147698]\|Hypertrophic cardiomyopathy [RCV001903792]\|not provided [RCV004793588]	uncertain significance	20	44159825	44159825	Human	4	name
151789018	CV1488963	single nucleotide variant	NM_020433.5(JPH2):c.302G>A (p.Ser101Asn)	Cardiovascular phenotype [RCV002441182]\|Hypertrophic cardiomyopathy [RCV002010505]	uncertain significance	20	44186404	44186404	Human	2	name
151884675	CV1497903	single nucleotide variant	NM_020433.5(JPH2):c.946G>A (p.Gly316Ser)	Hypertrophic cardiomyopathy [RCV001962385]	uncertain significance	20	44159841	44159841	Human	2	name
151720045	CV1498233	single nucleotide variant	NM_020433.5(JPH2):c.596G>A (p.Gly199Asp)	Hypertrophic cardiomyopathy [RCV001965831]	uncertain significance	20	44160191	44160191	Human	2	name
151863390	CV1498503	single nucleotide variant	NM_020433.5(JPH2):c.457G>A (p.Val153Met)	Cardiovascular phenotype [RCV003289355]\|Hypertrophic cardiomyopathy [RCV001980418]	uncertain significance	20	44160330	44160330	Human	2	name
151881220	CV1504127	single nucleotide variant	NM_020433.5(JPH2):c.515A>G (p.Asn172Ser)	Hypertrophic cardiomyopathy 17 [RCV002492323]\|Hypertrophic cardiomyopathy [RCV002020194]	uncertain significance	20	44160272	44160272	Human	3	name
151732195	CV1512249	single nucleotide variant	NM_020433.5(JPH2):c.575C>T (p.Ser192Leu)	Cardiovascular phenotype [RCV002346311]\|Hypertrophic cardiomyopathy [RCV002021417]	uncertain significance	20	44160212	44160212	Human	2	name
9586844	CV165552	single nucleotide variant	NM_020433.5(JPH2):c.482C>A (p.Thr161Lys)	Hypertrophic cardiomyopathy [RCV000466489]\|Primary familial hypertrophic cardiomyopathy [RCV000143902]	pathogenic\|likely pathogenic\|uncertain significance	20	44160305	44160305	Human	3	name
9586845	CV165553	single nucleotide variant	NM_020433.5(JPH2):c.723C>G (p.Ser241Arg)	Hypertrophic cardiomyopathy [RCV000472753]\|Primary dilated cardiomyopathy [RCV000143903]\|not provided [RCV001530100]	uncertain significance	20	44160064	44160064	Human	3	name
152033951	CV1669071	single nucleotide variant	NM_020433.5(JPH2):c.323G>A (p.Gly108Asp)	not provided [RCV002223415]	uncertain significance	20	44186383	44186383	Human		name
152039060	CV1669368	single nucleotide variant	NM_020433.5(JPH2):c.910G>T (p.Gly304Cys)	not provided [RCV002224420]	uncertain significance	20	44159877	44159877	Human		name
155695186	CV1771993	single nucleotide variant	NM_020433.5(JPH2):c.739A>G (p.Ser247Gly)	Hypertrophic cardiomyopathy [RCV002299563]	uncertain significance	20	44160048	44160048	Human	2	name
155678915	CV1786609	single nucleotide variant	NM_020433.5(JPH2):c.370G>A (p.Ala124Thr)	Cardiovascular phenotype [RCV002353036]	uncertain significance	20	44186336	44186336	Human		name
9832592	CV178756	single nucleotide variant	NM_020433.5(JPH2):c.565G>A (p.Ala189Thr)	Cardiomyopathy [RCV000157589]\|Cardiovascular phenotype [RCV002345530]\|Hypertrophic cardiomyopathy [RCV002053899]\|Primary familial hypertrophic cardiomyopathy [RCV000845503]	benign\|likely benign\|uncertain significance	20	44160222	44160222	Human	6	name
155726884	CV1787825	single nucleotide variant	NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn)	Cardiovascular phenotype [RCV002328037]	uncertain significance	20	44160366	44160366	Human		name
155699987	CV1791823	single nucleotide variant	NM_020433.5(JPH2):c.316T>C (p.Tyr106His)	Cardiovascular phenotype [RCV002322626]	uncertain significance	20	44186390	44186390	Human		name
155666435	CV1793117	single nucleotide variant	NM_020433.5(JPH2):c.363G>T (p.Glu121Asp)	Cardiovascular phenotype [RCV002452425]\|JPH2-related disorder [RCV004749902]	uncertain significance	20	44186343	44186343	Human	1	name , trait , alternate_id
155708070	CV1798790	single nucleotide variant	NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)	Cardiovascular phenotype [RCV002335339]\|Hypertrophic cardiomyopathy [RCV003096435]\|not provided [RCV003134428]	uncertain significance	20	44160317	44160317	Human	2	name
155669453	CV1800078	single nucleotide variant	NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)	Cardiovascular phenotype [RCV002349832]\|Hypertrophic cardiomyopathy 17 [RCV003224630]\|Hypertrophic cardiomyopathy [RCV003096760]\|not specified [RCV005405896]	likely benign\|uncertain significance	20	44160240	44160240	Human	4	name
155696193	CV1800673	single nucleotide variant	NM_020433.5(JPH2):c.599T>C (p.Phe200Ser)	Cardiovascular phenotype [RCV002357931]	uncertain significance	20	44160188	44160188	Human		name
155672699	CV1801120	single nucleotide variant	NM_020433.5(JPH2):c.629C>A (p.Ala210Glu)	Cardiovascular phenotype [RCV002368757]	uncertain significance	20	44160158	44160158	Human		name
155673351	CV1801324	single nucleotide variant	NM_020433.5(JPH2):c.632C>T (p.Ala211Val)	Cardiovascular phenotype [RCV002368887]	uncertain significance	20	44160155	44160155	Human		name
155688644	CV1803879	single nucleotide variant	NM_020433.5(JPH2):c.595G>A (p.Gly199Ser)	Cardiovascular phenotype [RCV002356033]\|Hypertrophic cardiomyopathy [RCV005096875]	uncertain significance	20	44160192	44160192	Human	2	name
155723963	CV1804628	single nucleotide variant	NM_020433.5(JPH2):c.652G>A (p.Gly218Ser)	Cardiovascular phenotype [RCV002364284]	uncertain significance	20	44160135	44160135	Human		name
155719890	CV1805310	single nucleotide variant	NM_020433.5(JPH2):c.479G>A (p.Arg160His)	Cardiovascular phenotype [RCV002337855]\|Primary dilated cardiomyopathy [RCV003319238]	uncertain significance	20	44160308	44160308	Human	1	name
155743611	CV1806872	single nucleotide variant	NM_020433.5(JPH2):c.560G>A (p.Gly187Asp)	Cardiovascular phenotype [RCV002344953]	uncertain significance	20	44160227	44160227	Human		name
155687023	CV1807337	single nucleotide variant	NM_020433.5(JPH2):c.589C>T (p.Arg197Cys)	Cardiovascular phenotype [RCV002355663]	uncertain significance	20	44160198	44160198	Human		name
155711876	CV1807912	single nucleotide variant	NM_020433.5(JPH2):c.643C>G (p.Pro215Ala)	Cardiovascular phenotype [RCV002361772]	uncertain significance	20	44160144	44160144	Human		name
155740488	CV1809422	single nucleotide variant	NM_020433.5(JPH2):c.499C>T (p.Arg167Cys)	Cardiovascular phenotype [RCV002342992]	uncertain significance	20	44160288	44160288	Human		name
155698758	CV1813256	single nucleotide variant	NM_020433.5(JPH2):c.758T>A (p.Leu253His)	Cardiovascular phenotype [RCV002394155]	uncertain significance	20	44160029	44160029	Human		name
155747278	CV1813522	single nucleotide variant	NM_020433.5(JPH2):c.791C>G (p.Ala264Gly)	Cardiovascular phenotype [RCV002416718]	uncertain significance	20	44159996	44159996	Human		name
155670941	CV1815543	single nucleotide variant	NM_020433.5(JPH2):c.713C>T (p.Ser238Phe)	Cardiovascular phenotype [RCV002367490]	uncertain significance	20	44160074	44160074	Human		name
155708736	CV1815632	single nucleotide variant	NM_020433.5(JPH2):c.715G>C (p.Val239Leu)	Cardiovascular phenotype [RCV002378352]	likely benign	20	44160072	44160072	Human		name
155697281	CV1816279	single nucleotide variant	NM_020433.5(JPH2):c.752G>A (p.Ser251Asn)	Cardiovascular phenotype [RCV002393872]\|Hypertrophic cardiomyopathy [RCV005058505]	uncertain significance	20	44160035	44160035	Human	2	name
155697554	CV1816327	single nucleotide variant	NM_020433.5(JPH2):c.753C>G (p.Ser251Arg)	Cardiovascular phenotype [RCV002393920]	uncertain significance	20	44160034	44160034	Human		name
155698599	CV1816980	single nucleotide variant	NM_020433.5(JPH2):c.823G>C (p.Glu275Gln)	Cardiovascular phenotype [RCV002428032]	uncertain significance	20	44159964	44159964	Human		name
155737478	CV1819917	single nucleotide variant	NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)	Cardiovascular phenotype [RCV002409708]\|Hypertrophic cardiomyopathy [RCV003748413]	uncertain significance	20	44160012	44160012	Human	2	name
155681454	CV1820952	single nucleotide variant	NM_020433.5(JPH2):c.862A>G (p.Thr288Ala)	Cardiovascular phenotype [RCV002371164]	uncertain significance	20	44159925	44159925	Human		name
155717942	CV1823073	single nucleotide variant	NM_020433.5(JPH2):c.736G>A (p.Val246Ile)	Cardiovascular phenotype [RCV002380353]	uncertain significance	20	44160051	44160051	Human		name
155745282	CV1834264	duplication	NM_020433.5(JPH2):c.1699dup (p.His567fs)	Cardiovascular phenotype [RCV002414678]	uncertain significance	20	44115975	44115976	Human		name
155697214	CV1854846	single nucleotide variant	NM_020433.5(JPH2):c.304A>T (p.Ser102Cys)	Cardiovascular phenotype [RCV002444084]	uncertain significance	20	44186402	44186402	Human		name
155799008	CV1862273	single nucleotide variant	NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)	Cardiovascular phenotype [RCV003164741]\|Hypertrophic cardiomyopathy 17 [RCV002471677]	uncertain significance	20	44186333	44186333	Human	1	name
156292116	CV1881983	single nucleotide variant	NM_020433.5(JPH2):c.478C>T (p.Arg160Cys)	Hypertrophic cardiomyopathy [RCV003061503]	uncertain significance	20	44160309	44160309	Human	2	name
156290711	CV1897497	deletion	NM_020433.5(JPH2):c.1296del (p.Glu432fs)	Hypertrophic cardiomyopathy [RCV002598742]	uncertain significance	20	44116379	44116379	Human	2	name
156217166	CV1910705	single nucleotide variant	NM_020433.5(JPH2):c.424G>A (p.Gly142Arg)	Cardiovascular phenotype [RCV004069070]\|Hypertrophic cardiomyopathy [RCV002596314]	uncertain significance	20	44160363	44160363	Human	2	name
155949273	CV1921833	single nucleotide variant	NM_020433.5(JPH2):c.658C>G (p.Leu220Val)	Hypertrophic cardiomyopathy [RCV002616129]	uncertain significance	20	44160129	44160129	Human	2	name
156197714	CV1967859	single nucleotide variant	NM_020433.5(JPH2):c.499C>A (p.Arg167Ser)	Hypertrophic cardiomyopathy [RCV002625623]	uncertain significance	20	44160288	44160288	Human	2	name
10055795	CV198532	single nucleotide variant	NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)	Cardiomyopathy [RCV000852952]\|Cardiovascular phenotype [RCV000244155]\|Hypertrophic cardiomyopathy [RCV000205467]\|not provided [RCV003114338]\|not specified [RCV000183470]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44159931	44159931	Human	6	name
10055794	CV198533	single nucleotide variant	NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)	Cardiovascular phenotype [RCV000247052]\|Hypertrophic cardiomyopathy 17 [RCV000515223]\|Hypertrophic cardiomyopathy [RCV000206653]\|JPH2-related disorder [RCV003907640]\|not provided [RCV002243872]\|not specified [RCV000183469]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44160126	44160126	Human	3	name , trait , alternate_id
10055793	CV198534	single nucleotide variant	NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)	Cardiovascular phenotype [RCV000618873]\|Hypertrophic cardiomyopathy 17 [RCV003224202]\|Hypertrophic cardiomyopathy [RCV000200580]\|not provided [RCV001721140]\|not specified [RCV000183468]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44160150	44160150	Human	4	name
10055792	CV198535	single nucleotide variant	NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)	Cardiovascular phenotype [RCV000253404]\|Hypertrophic cardiomyopathy [RCV001086480]\|not provided [RCV000786325]\|not specified [RCV000223019]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44160215	44160215	Human	2	name
10055791	CV198536	single nucleotide variant	NM_020433.5(JPH2):c.458T>C (p.Val153Ala)	Cardiovascular phenotype [RCV004020216]\|Hypertrophic cardiomyopathy 17 [RCV000764238]\|Hypertrophic cardiomyopathy [RCV000819506]\|not provided [RCV000767063]\|not specified [RCV000183466]	likely benign\|uncertain significance	20	44160329	44160329	Human	3	name
10055790	CV198537	single nucleotide variant	NM_020433.5(JPH2):c.385T>G (p.Tyr129Asp)	Hypertrophic cardiomyopathy [RCV000822701]\|not specified [RCV000183465]	uncertain significance	20	44160402	44160402	Human	2	name
155914574	CV2021934	single nucleotide variant	NM_020433.5(JPH2):c.416A>G (p.His139Arg)	Hypertrophic cardiomyopathy [RCV002727052]	uncertain significance	20	44160371	44160371	Human	2	name
156198566	CV2024450	single nucleotide variant	NM_020433.5(JPH2):c.521C>T (p.Thr174Met)	Hypertrophic cardiomyopathy [RCV002711322]	uncertain significance	20	44160266	44160266	Human	2	name
156050982	CV2027323	single nucleotide variant	NM_020433.5(JPH2):c.611T>A (p.Leu204His)	Hypertrophic cardiomyopathy [RCV002736510]	uncertain significance	20	44160176	44160176	Human	2	name
156314519	CV2063669	single nucleotide variant	NM_020433.5(JPH2):c.617C>T (p.Ala206Val)	Hypertrophic cardiomyopathy [RCV002834319]	uncertain significance	20	44160170	44160170	Human	2	name
156027801	CV2139281	single nucleotide variant	NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)	Cardiovascular phenotype [RCV003170806]\|Hypertrophic cardiomyopathy [RCV002999003]	likely benign\|uncertain significance	20	44159970	44159970	Human	2	name
156322420	CV2182861	single nucleotide variant	NM_020433.5(JPH2):c.686A>G (p.Lys229Arg)	Hypertrophic cardiomyopathy [RCV003046702]	uncertain significance	20	44160101	44160101	Human	2	name
156383636	CV2220144	single nucleotide variant	NM_020433.5(JPH2):c.880G>A (p.Glu294Lys)	Cardiovascular phenotype [RCV004093997]	uncertain significance	20	44159907	44159907	Human		name
10767815	CV222854	single nucleotide variant	NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)	Cardiomyopathy [RCV000852953]\|Cardiovascular phenotype [RCV000246823]\|Hypertrophic cardiomyopathy 17 [RCV000625202]\|Hypertrophic cardiomyopathy [RCV000205357]\|JPH2-related disorder [RCV003937783]\|not provided [RCV001722126]\|not specified [RCV000424518]	benign\|likely benign\|uncertain significance	20	44160225	44160225	Human	5	name , trait , alternate_id
11040138	CV224565	single nucleotide variant	NM_020433.5(JPH2):c.559G>A (p.Gly187Ser)	Primary familial hypertrophic cardiomyopathy [RCV000208442]	uncertain significance	20	44160228	44160228	Human	1	name
11040048	CV224566	single nucleotide variant	NM_020433.5(JPH2):c.502A>C (p.Ser168Arg)	Cardiovascular phenotype [RCV004629169]\|Primary familial hypertrophic cardiomyopathy [RCV000208252]\|not specified [RCV003401114]	uncertain significance	20	44160285	44160285	Human	2	name
11060029	CV226979	single nucleotide variant	NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)	Cardiovascular phenotype [RCV002372210]\|Hypertrophic cardiomyopathy 17 [RCV002470819]\|Hypertrophic cardiomyopathy 17 [RCV002503830]\|Hypertrophic cardiomyopathy [RCV000459996]\|JPH2-related disorder [RCV004748660]\|not provided [RCV001561835]	uncertain significance	20	44160095	44160095	Human	4	name , trait , alternate_id
11089152	CV231102	single nucleotide variant	NM_020433.5(JPH2):c.497T>G (p.Leu166Arg)	not specified [RCV000214453]	uncertain significance	20	44160290	44160290	Human		name
11095183	CV231103	single nucleotide variant	NM_020433.5(JPH2):c.376G>A (p.Gly126Arg)	Hypertrophic cardiomyopathy [RCV003765390]\|not specified [RCV000221991]	uncertain significance	20	44186330	44186330	Human	2	name
329380075	CV2426384	single nucleotide variant	NM_020433.5(JPH2):c.658C>T (p.Leu220Phe)	Cardiovascular phenotype [RCV003187440]	uncertain significance	20	44160129	44160129	Human		name
329380083	CV2426388	single nucleotide variant	NM_020433.5(JPH2):c.430C>T (p.Arg144Cys)	Cardiovascular phenotype [RCV003187444]	uncertain significance	20	44160357	44160357	Human		name
11348877	CV243580	single nucleotide variant	NM_020433.5(JPH2):c.869C>T (p.Thr290Ile)	Cardiovascular phenotype [RCV002444918]\|Hypertrophic cardiomyopathy 17 [RCV002500808]\|Hypertrophic cardiomyopathy [RCV000228436]	uncertain significance	20	44159918	44159918	Human	4	name
329390515	CV2440358	single nucleotide variant	NM_020433.5(JPH2):c.517G>T (p.Gly173Cys)	Cardiovascular phenotype [RCV004262825]	uncertain significance	20	44160270	44160270	Human		name
11542772	CV259067	single nucleotide variant	NM_020433.5(JPH2):c.476T>A (p.Leu159Gln)	Cardiovascular phenotype [RCV000241584]\|Hypertrophic cardiomyopathy [RCV001210187]	uncertain significance	20	44160311	44160311	Human	2	name
401796498	CV2670298	single nucleotide variant	NM_020433.5(JPH2):c.598T>G (p.Phe200Val)	Primary dilated cardiomyopathy [RCV003319267]	uncertain significance	20	44160189	44160189	Human	1	name
401734357	CV2709470	single nucleotide variant	NM_020433.5(JPH2):c.931G>A (p.Gly311Ser)	Cardiovascular phenotype [RCV004318716]\|Hypertrophic cardiomyopathy [RCV003779984]	uncertain significance	20	44159856	44159856	Human	2	name
401745487	CV2729021	single nucleotide variant	NM_020433.5(JPH2):c.800G>A (p.Gly267Glu)	Cardiovascular phenotype [RCV003293536]	uncertain significance	20	44159987	44159987	Human		name
401777635	CV2729022	single nucleotide variant	NM_020433.5(JPH2):c.655G>A (p.Gly219Ser)	Cardiovascular phenotype [RCV003306452]\|Hypertrophic cardiomyopathy [RCV005102782]	uncertain significance	20	44160132	44160132	Human	2	name
401777641	CV2729027	single nucleotide variant	NM_020433.5(JPH2):c.307G>T (p.Gly103Cys)	Cardiovascular phenotype [RCV003306455]	uncertain significance	20	44186399	44186399	Human		name
401745496	CV2729028	single nucleotide variant	NM_020433.5(JPH2):c.823G>A (p.Glu275Lys)	Cardiovascular phenotype [RCV003293539]	uncertain significance	20	44159964	44159964	Human		name
401936188	CV2802807	single nucleotide variant	NM_020433.5(JPH2):c.676C>A (p.Leu226Met)	Hypertrophic cardiomyopathy [RCV005061385]\|JPH2-related disorder [RCV003414163]	uncertain significance	20	44160111	44160111	Human	3	name , trait , alternate_id
405866877	CV2842388	single nucleotide variant	NM_020433.5(JPH2):c.898C>T (p.Arg300Cys)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557745]	likely benign	20	44159889	44159889	Human		name
405157563	CV2863781	single nucleotide variant	NM_020433.5(JPH2):c.680T>G (p.Leu227Arg)	Hypertrophic cardiomyopathy [RCV003586436]	uncertain significance	20	44160107	44160107	Human	2	name
405171388	CV2895611	single nucleotide variant	NM_020433.5(JPH2):c.646A>C (p.Lys216Gln)	Cardiovascular phenotype [RCV005363150]\|Hypertrophic cardiomyopathy [RCV003587457]	uncertain significance	20	44160141	44160141	Human	2	name
405171496	CV2904607	single nucleotide variant	NM_020433.5(JPH2):c.793A>G (p.Ser265Gly)	Hypertrophic cardiomyopathy [RCV003587642]	uncertain significance	20	44159994	44159994	Human	2	name
405172996	CV2910085	single nucleotide variant	NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)	Hypertrophic cardiomyopathy [RCV003587797]	uncertain significance	20	44186400	44186400	Human	2	name
405102214	CV2950896	single nucleotide variant	NM_020433.5(JPH2):c.899G>A (p.Arg300His)	Hypertrophic cardiomyopathy [RCV003749227]	uncertain significance	20	44159888	44159888	Human	2	name
405104132	CV2980242	single nucleotide variant	NM_020433.5(JPH2):c.818C>T (p.Ala273Val)	Hypertrophic cardiomyopathy [RCV003749902]	uncertain significance	20	44159969	44159969	Human	2	name
405251819	CV3019176	single nucleotide variant	NM_020433.5(JPH2):c.967C>A (p.Arg323Ser)	Hypertrophic cardiomyopathy [RCV003747881]	uncertain significance	20	44159820	44159820	Human	2	name
405251812	CV3037183	single nucleotide variant	NM_020433.5(JPH2):c.902C>T (p.Ser301Leu)	Hypertrophic cardiomyopathy [RCV003748117]	uncertain significance	20	44159885	44159885	Human	2	name
405251972	CV3043261	single nucleotide variant	NM_020433.5(JPH2):c.876G>A (p.Met292Ile)	Hypertrophic cardiomyopathy [RCV003748157]	uncertain significance	20	44159911	44159911	Human	2	name
405252862	CV3046909	single nucleotide variant	NM_020433.5(JPH2):c.874A>C (p.Met292Leu)	Cardiovascular phenotype [RCV004992741]\|Hypertrophic cardiomyopathy 17 [RCV005036968]\|Hypertrophic cardiomyopathy [RCV003748660]	uncertain significance	20	44159913	44159913	Human	4	name
405103468	CV3070993	single nucleotide variant	NM_020433.5(JPH2):c.409A>T (p.Met137Leu)	Cardiovascular phenotype [RCV004374306]\|Hypertrophic cardiomyopathy [RCV003749661]	uncertain significance	20	44160378	44160378	Human	2	name
405228909	CV3153414	single nucleotide variant	NM_020433.5(JPH2):c.586C>G (p.Pro196Ala)	Hypertrophic cardiomyopathy [RCV003848478]	uncertain significance	20	44160201	44160201	Human	2	name
405166531	CV3160504	single nucleotide variant	NM_020433.5(JPH2):c.683G>A (p.Gly228Asp)	Hypertrophic cardiomyopathy [RCV003857384]	uncertain significance	20	44160104	44160104	Human	2	name
402498075	CV3179393	single nucleotide variant	NM_020433.5(JPH2):c.817G>T (p.Ala273Ser)	Hypertrophic cardiomyopathy [RCV003877660]	uncertain significance	20	44159970	44159970	Human	2	name
402490253	CV3182382	single nucleotide variant	NM_020433.5(JPH2):c.590G>A (p.Arg197His)	Cardiovascular phenotype [RCV005353318]\|Hypertrophic cardiomyopathy [RCV003876868]	uncertain significance	20	44160197	44160197	Human	2	name
404991549	CV3183868	single nucleotide variant	NM_020433.5(JPH2):c.622G>A (p.Ala208Thr)	Hypertrophic cardiomyopathy [RCV003881641]	uncertain significance	20	44160165	44160165	Human	2	name
405795886	CV3275622	single nucleotide variant	NM_020433.5(JPH2):c.685A>G (p.Lys229Glu)	Cardiovascular phenotype [RCV004401396]	uncertain significance	20	44160102	44160102	Human		name
405725942	CV3381816	single nucleotide variant	NM_020433.5(JPH2):c.326C>T (p.Thr109Ile)	Cardiovascular phenotype [RCV004524504]	uncertain significance	20	44186380	44186380	Human		name
405725954	CV3381818	single nucleotide variant	NM_020433.5(JPH2):c.494C>A (p.Ser165Tyr)	Cardiovascular phenotype [RCV004524506]	uncertain significance	20	44160293	44160293	Human		name
405725975	CV3381822	single nucleotide variant	NM_020433.5(JPH2):c.799G>A (p.Gly267Arg)	Cardiovascular phenotype [RCV004524510]	uncertain significance	20	44159988	44159988	Human		name
405725983	CV3381823	single nucleotide variant	NM_020433.5(JPH2):c.854C>G (p.Ala285Gly)	Cardiovascular phenotype [RCV004524511]	uncertain significance	20	44159933	44159933	Human		name
405725996	CV3381826	single nucleotide variant	NM_020433.5(JPH2):c.982T>C (p.Cys328Arg)	Cardiovascular phenotype [RCV004524514]	likely benign	20	44159805	44159805	Human		name
407427382	CV3411875	single nucleotide variant	NM_020433.5(JPH2):c.674C>T (p.Ala225Val)	not provided [RCV004592046]	uncertain significance	20	44160113	44160113	Human		name
407467096	CV3448157	single nucleotide variant	NM_020433.5(JPH2):c.826G>A (p.Ala276Thr)	Cardiovascular phenotype [RCV004635794]	uncertain significance	20	44159961	44159961	Human		name
407467098	CV3448158	single nucleotide variant	NM_020433.5(JPH2):c.918C>A (p.Ser306Arg)	Cardiovascular phenotype [RCV004635795]	uncertain significance	20	44159869	44159869	Human		name
407573681	CV3498048	single nucleotide variant	NM_020433.5(JPH2):c.439G>T (p.Val147Leu)	not provided [RCV004702034]	uncertain significance	20	44160348	44160348	Human		name
596921469	CV3535047	single nucleotide variant	NM_020433.5(JPH2):c.647A>T (p.Lys216Met)	not provided [RCV004784606]	uncertain significance	20	44160140	44160140	Human		name
596942873	CV3544231	single nucleotide variant	NM_020433.5(JPH2):c.392G>A (p.Gly131Asp)	not specified [RCV004800224]	uncertain significance	20	44160395	44160395	Human		name
596946834	CV3548667	single nucleotide variant	NM_020433.5(JPH2):c.353A>G (p.Tyr118Cys)	not provided [RCV004810495]	uncertain significance	20	44186353	44186353	Human		name
597718226	CV3691390	single nucleotide variant	NM_020433.5(JPH2):c.434A>G (p.Gln145Arg)	Cardiovascular phenotype [RCV004991826]	uncertain significance	20	44160353	44160353	Human		name
597718244	CV3691395	single nucleotide variant	NM_020433.5(JPH2):c.614T>C (p.Leu205Pro)	Cardiovascular phenotype [RCV004991831]	likely benign	20	44160173	44160173	Human		name
597718249	CV3691397	single nucleotide variant	NM_020433.5(JPH2):c.614T>A (p.Leu205Gln)	Cardiovascular phenotype [RCV004991832]	uncertain significance	20	44160173	44160173	Human		name
597718264	CV3691401	single nucleotide variant	NM_020433.5(JPH2):c.317A>G (p.Tyr106Cys)	Cardiovascular phenotype [RCV004991836]	uncertain significance	20	44186389	44186389	Human		name
597718278	CV3691407	single nucleotide variant	NM_020433.5(JPH2):c.574T>G (p.Ser192Ala)	Cardiovascular phenotype [RCV004991840]	uncertain significance	20	44160213	44160213	Human		name
597718287	CV3691409	single nucleotide variant	NM_020433.5(JPH2):c.575C>G (p.Ser192Trp)	Cardiovascular phenotype [RCV004991842]	uncertain significance	20	44160212	44160212	Human		name
597718291	CV3691410	single nucleotide variant	NM_020433.5(JPH2):c.553T>G (p.Ser185Ala)	Cardiovascular phenotype [RCV004991843]	uncertain significance	20	44160234	44160234	Human		name
597718310	CV3691415	single nucleotide variant	NM_020433.5(JPH2):c.523G>C (p.Val175Leu)	Cardiovascular phenotype [RCV004991848]	uncertain significance	20	44160264	44160264	Human		name
597718367	CV3691433	single nucleotide variant	NM_020433.5(JPH2):c.875T>A (p.Met292Lys)	Cardiovascular phenotype [RCV004991863]	uncertain significance	20	44159912	44159912	Human		name
597718371	CV3691434	single nucleotide variant	NM_020433.5(JPH2):c.586C>T (p.Pro196Ser)	Cardiovascular phenotype [RCV004991864]	uncertain significance	20	44160201	44160201	Human		name
597936230	CV3764807	duplication	NM_020433.5(JPH2):c.2023dup (p.Ile675fs)	Hypertrophic cardiomyopathy [RCV005117506]	uncertain significance	20	44114863	44114864	Human	2	name
12844575	CV377027	single nucleotide variant	NM_020433.5(JPH2):c.443C>T (p.Pro148Leu)	Cardiovascular phenotype [RCV002329002]\|Hypertrophic cardiomyopathy [RCV001227834]\|not provided [RCV000438235]	uncertain significance	20	44160344	44160344	Human	2	name
597938591	CV3775127	single nucleotide variant	NM_020433.5(JPH2):c.379G>T (p.Gly127Trp)	Hypertrophic cardiomyopathy [RCV005117953]	uncertain significance	20	44186327	44186327	Human	2	name
597921208	CV3781370	single nucleotide variant	NM_020433.5(JPH2):c.473C>G (p.Pro158Arg)	Hypertrophic cardiomyopathy [RCV005130252]	uncertain significance	20	44160314	44160314	Human	2	name
597887562	CV3787526	single nucleotide variant	NM_020433.5(JPH2):c.590G>C (p.Arg197Pro)	Hypertrophic cardiomyopathy [RCV005125092]	uncertain significance	20	44160197	44160197	Human	2	name
597966326	CV3793979	single nucleotide variant	NM_020433.5(JPH2):c.958G>T (p.Asp320Tyr)	Hypertrophic cardiomyopathy [RCV005140361]	uncertain significance	20	44159829	44159829	Human	2	name
597945320	CV3812880	single nucleotide variant	NM_020433.5(JPH2):c.512G>A (p.Ser171Asn)	Hypertrophic cardiomyopathy [RCV005159893]	uncertain significance	20	44160275	44160275	Human	2	name
597975197	CV3832269	single nucleotide variant	NM_020433.5(JPH2):c.535T>G (p.Ser179Ala)	Hypertrophic cardiomyopathy [RCV005169006]	uncertain significance	20	44160252	44160252	Human	2	name
597953852	CV3844280	single nucleotide variant	NM_020433.5(JPH2):c.937C>T (p.Arg313Cys)	Hypertrophic cardiomyopathy [RCV005190953]	uncertain significance	20	44159850	44159850	Human	2	name
8568360	CV39412	single nucleotide variant	NM_020433.5(JPH2):c.301A>C (p.Ser101Arg)	Hypertrophic cardiomyopathy 17 [RCV000023408]	pathogenic\|likely pathogenic	20	44186405	44186405	Human	1	name
8602221	CV39413	single nucleotide variant	NM_020433.5(JPH2):c.421T>C (p.Tyr141His)	Cardiovascular phenotype [RCV002326683]\|Hypertrophic cardiomyopathy 1 [RCV001256951]\|Hypertrophic cardiomyopathy 17 [RCV000023409]\|not provided [RCV001781303]	pathogenic\|likely pathogenic\|uncertain significance	20	44160366	44160366	Human	2	name
8602222	CV39414	single nucleotide variant	NM_020433.5(JPH2):c.494C>T (p.Ser165Phe)	Hypertrophic cardiomyopathy 17 [RCV000023410]	pathogenic\|likely pathogenic	20	44160293	44160293	Human	1	name
598258839	CV3969452	duplication	NM_020433.5(JPH2):c.1359dup (p.Asp454fs)	Cardiovascular phenotype [RCV005347286]	uncertain significance	20	44116315	44116316	Human		name
598212238	CV3969456	single nucleotide variant	NM_020433.5(JPH2):c.719G>A (p.Gly240Asp)	Cardiovascular phenotype [RCV005358797]	uncertain significance	20	44160068	44160068	Human		name
616936205	CV4010646	single nucleotide variant	NM_020433.5(JPH2):c.697G>T (p.Ala233Ser)	Cardiovascular phenotype [RCV005403992]	uncertain significance	20	44160090	44160090	Human		name
616936002	CV4010647	single nucleotide variant	NM_020433.5(JPH2):c.749A>G (p.Lys250Arg)	Cardiovascular phenotype [RCV005403993]	uncertain significance	20	44160038	44160038	Human		name
616934152	CV4012166	single nucleotide variant	NM_020433.5(JPH2):c.566C>T (p.Ala189Val)	not specified [RCV005409200]	uncertain significance	20	44160221	44160221	Human		name
617149355	CV4017431	single nucleotide variant	NM_020433.5(JPH2):c.640G>T (p.Ala214Ser)	not provided [RCV005417089]	uncertain significance	20	44160147	44160147	Human		name
617150367	CV4019043	single nucleotide variant	NM_020433.5(JPH2):c.938G>A (p.Arg313His)	not provided [RCV005423451]	uncertain significance	20	44159849	44159849	Human		name
12892219	CV403636	single nucleotide variant	NM_020433.5(JPH2):c.439G>A (p.Val147Met)	Cardiovascular phenotype [RCV004022540]\|Hypertrophic cardiomyopathy [RCV000460913]	uncertain significance	20	44160348	44160348	Human	2	name
12912885	CV422320	single nucleotide variant	NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)	Cardiovascular phenotype [RCV000621828]\|Hypertrophic cardiomyopathy 17 [RCV000764237]\|Hypertrophic cardiomyopathy [RCV002527084]\|not specified [RCV000493136]	likely benign\|uncertain significance	20	44159949	44159949	Human	3	name
13211784	CV426339	single nucleotide variant	NM_020433.5(JPH2):c.944A>G (p.Glu315Gly)	Hypertrophic cardiomyopathy [RCV002524088]\|not provided [RCV000497909]	uncertain significance	20	44159843	44159843	Human	2	name
13212334	CV426340	single nucleotide variant	NM_020433.5(JPH2):c.919G>A (p.Glu307Lys)	Cardiovascular phenotype [RCV002376912]\|not provided [RCV000498670]	uncertain significance	20	44159868	44159868	Human		name
13211669	CV426341	single nucleotide variant	NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)	Cardiovascular phenotype [RCV002438209]\|Hypertrophic cardiomyopathy 17 [RCV002489222]\|Hypertrophic cardiomyopathy [RCV001865571]\|not provided [RCV000497753]	likely benign\|uncertain significance	20	44186407	44186407	Human	4	name
13474217	CV446240	single nucleotide variant	NM_020433.5(JPH2):c.985A>G (p.Thr329Ala)	not provided [RCV000519586]	uncertain significance	20	44159802	44159802	Human		name
13479382	CV446241	single nucleotide variant	NM_020433.5(JPH2):c.968G>A (p.Arg323His)	Cardiovascular phenotype [RCV003159681]\|Hypertrophic cardiomyopathy [RCV001858006]\|not provided [RCV000520937]\|not specified [RCV005407679]	uncertain significance	20	44159819	44159819	Human	2	name
13488294	CV446242	single nucleotide variant	NM_020433.5(JPH2):c.694C>T (p.Arg232Cys)	Hypertrophic cardiomyopathy [RCV005056129]\|not provided [RCV000523520]	uncertain significance	20	44160093	44160093	Human	2	name
13481961	CV446243	single nucleotide variant	NM_020433.5(JPH2):c.584T>C (p.Ile195Thr)	not provided [RCV000521656]	uncertain significance	20	44160203	44160203	Human		name
13477402	CV446244	single nucleotide variant	NM_020433.5(JPH2):c.448G>C (p.Gly150Arg)	Cardiovascular phenotype [RCV002329235]\|Hypertrophic cardiomyopathy [RCV001042401]\|not provided [RCV000520388]	uncertain significance	20	44160339	44160339	Human	2	name
13500791	CV471390	single nucleotide variant	NM_020433.5(JPH2):c.620A>G (p.Asn207Ser)	Cardiovascular phenotype [RCV002367765]\|Hypertrophic cardiomyopathy 17 [RCV002481748]\|Hypertrophic cardiomyopathy [RCV000538399]	likely benign\|uncertain significance	20	44160167	44160167	Human	4	name
13509945	CV482206	single nucleotide variant	NM_020433.5(JPH2):c.424G>T (p.Gly142Ter)	Cardiovascular phenotype [RCV002330996]\|not provided [RCV000579148]	likely pathogenic\|uncertain significance	20	44160363	44160363	Human		name
13529302	CV510836	single nucleotide variant	NM_020433.5(JPH2):c.943G>A (p.Glu315Lys)	Cardiovascular phenotype [RCV000621367]\|JPH2-related disorder [RCV004748858]	uncertain significance	20	44159844	44159844	Human	1	name , trait , alternate_id
13535066	CV510839	single nucleotide variant	NM_020433.5(JPH2):c.665A>G (p.Gln222Arg)	Cardiovascular phenotype [RCV000619403]\|Hypertrophic cardiomyopathy [RCV001294865]	likely benign\|uncertain significance	20	44160122	44160122	Human	2	name
13525795	CV511139	single nucleotide variant	NM_020433.5(JPH2):c.754G>A (p.Asp252Asn)	Cardiovascular phenotype [RCV005367456]\|Primary familial hypertrophic cardiomyopathy [RCV000623971]	likely benign\|uncertain significance	20	44160033	44160033	Human	2	name
13609147	CV533566	single nucleotide variant	NM_020433.5(JPH2):c.986C>A (p.Thr329Asn)	Hypertrophic cardiomyopathy [RCV000628906]	uncertain significance	20	44159801	44159801	Human	2	name
13609145	CV534108	single nucleotide variant	NM_020433.5(JPH2):c.795C>G (p.Ser265Arg)	Hypertrophic cardiomyopathy [RCV000628905]	uncertain significance	20	44159992	44159992	Human	2	name
13609107	CV534112	single nucleotide variant	NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)	Cardiomyopathy, dilated, 2E [RCV003993674]\|Cardiovascular phenotype [RCV002358752]\|Hypertrophic cardiomyopathy 17 [RCV002499024]\|Hypertrophic cardiomyopathy [RCV000628884]\|not provided [RCV005051806]	uncertain significance	20	44160197	44160197	Human	4	name
13813796	CV573505	single nucleotide variant	NM_020433.5(JPH2):c.535T>C (p.Ser179Pro)	Cardiovascular phenotype [RCV002343455]\|Hypertrophic cardiomyopathy [RCV000690409]\|not provided [RCV005051818]	uncertain significance	20	44160252	44160252	Human	2	name
13813351	CV573512	single nucleotide variant	NM_020433.5(JPH2):c.406G>A (p.Gly136Ser)	Hypertrophic cardiomyopathy [RCV000690092]	uncertain significance	20	44160381	44160381	Human	2	name
13811061	CV573514	single nucleotide variant	NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)	Cardiovascular phenotype [RCV003362912]\|Hypertrophic cardiomyopathy 17 [RCV002485738]\|Hypertrophic cardiomyopathy [RCV000702901]	uncertain significance	20	44186345	44186345	Human	4	name
14699198	CV624680	single nucleotide variant	NM_020433.5(JPH2):c.611T>G (p.Leu204Arg)	Cardiovascular phenotype [RCV002352301]\|Hypertrophic cardiomyopathy [RCV001223006]\|not provided [RCV000788462]	uncertain significance	20	44160176	44160176	Human	2	name
14699360	CV624682	single nucleotide variant	NM_020433.5(JPH2):c.412C>A (p.Arg138Ser)	not provided [RCV000788684]	uncertain significance	20	44160375	44160375	Human		name
14732008	CV648694	single nucleotide variant	NM_020433.5(JPH2):c.887A>C (p.Lys296Thr)	Hypertrophic cardiomyopathy [RCV000818114]	uncertain significance	20	44159900	44159900	Human	2	name
14740478	CV648695	single nucleotide variant	NM_020433.5(JPH2):c.875T>C (p.Met292Thr)	Hypertrophic cardiomyopathy [RCV000805380]	uncertain significance	20	44159912	44159912	Human	2	name
14701662	CV648696	single nucleotide variant	NM_020433.5(JPH2):c.700G>A (p.Glu234Lys)	Hypertrophic cardiomyopathy [RCV000806428]	uncertain significance	20	44160087	44160087	Human	2	name
14737426	CV648697	single nucleotide variant	NM_020433.5(JPH2):c.532G>A (p.Asp178Asn)	Hypertrophic cardiomyopathy [RCV000804053]	uncertain significance	20	44160255	44160255	Human	2	name
14706702	CV648698	single nucleotide variant	NM_020433.5(JPH2):c.436A>G (p.Ser146Gly)	Hypertrophic cardiomyopathy [RCV000792078]	uncertain significance	20	44160351	44160351	Human	2	name
15160728	CV689202	single nucleotide variant	NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)	Cardiovascular phenotype [RCV004027747]\|Hypertrophic cardiomyopathy [RCV000869073]\|JPH2-related disorder [RCV004749492]\|not provided [RCV001528910]\|not specified [RCV005405365]	benign\|likely benign	20	44159967	44159967	Human	3	name , trait , alternate_id
21068277	CV797984	deletion	NM_020433.5(JPH2):c.1952del (p.Lys651fs)	not provided [RCV000997774]	uncertain significance	20	44115723	44115723	Human		name
8628519	CV83663	single nucleotide variant	NM_175913.3(JPH2):c.382A>G (p.Met128Val)	Malignant melanoma [RCV000063744]	not provided	20	44177970	44177970	Human		name
26902503	CV848408	single nucleotide variant	NM_020433.5(JPH2):c.899G>C (p.Arg300Pro)	Hypertrophic cardiomyopathy [RCV001047118]	uncertain significance	20	44159888	44159888	Human	2	name
26899199	CV848409	single nucleotide variant	NM_020433.5(JPH2):c.517G>C (p.Gly173Arg)	Hypertrophic cardiomyopathy [RCV001035249]\|not provided [RCV001772210]	uncertain significance	20	44160270	44160270	Human	2	name
38474665	CV929194	single nucleotide variant	NM_020433.5(JPH2):c.782C>T (p.Ala261Val)	Hypertrophic cardiomyopathy [RCV001214842]	uncertain significance	20	44160005	44160005	Human	2	name
38485902	CV938984	single nucleotide variant	NM_020433.5(JPH2):c.655G>T (p.Gly219Cys)	Hypertrophic cardiomyopathy 17 [RCV003448377]\|Hypertrophic cardiomyopathy [RCV001208665]	uncertain significance	20	44160132	44160132	Human	3	name
38474032	CV938985	single nucleotide variant	NM_020433.5(JPH2):c.649G>A (p.Gly217Ser)	Cardiovascular phenotype [RCV002365915]\|Hypertrophic cardiomyopathy [RCV001203644]	uncertain significance	20	44160138	44160138	Human	2	name
38480224	CV951100	single nucleotide variant	NM_020433.5(JPH2):c.473C>T (p.Pro158Leu)	Hypertrophic cardiomyopathy [RCV001234627]	uncertain significance	20	44160314	44160314	Human	2	name
39456246	CV966494	single nucleotide variant	NM_020433.5(JPH2):c.438C>A (p.Ser146Arg)	Hypertrophic cardiomyopathy 1 [RCV001256950]\|not specified [RCV004769979]	uncertain significance	20	44160349	44160349	Human	1	name
126763999	CV999008	duplication	NM_020433.5(JPH2):c.1962dup (p.Arg655fs)	Hypertrophic cardiomyopathy [RCV001300922]	uncertain significance	20	44115712	44115713	Human	2	name
126748548	CV999013	single nucleotide variant	NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)	Cardiovascular phenotype [RCV003284162]\|Hypertrophic cardiomyopathy 17 [RCV002493608]\|Hypertrophic cardiomyopathy [RCV001306455]	uncertain significance	20	44159838	44159838	Human	4	name
126754895	CV999014	single nucleotide variant	NM_020433.5(JPH2):c.833C>G (p.Pro278Arg)	Hypertrophic cardiomyopathy [RCV001307736]\|JPH2-related disorder [RCV003399084]	uncertain significance	20	44159954	44159954	Human	3	name , trait , alternate_id
126742148	CV999015	single nucleotide variant	NM_020433.5(JPH2):c.539C>T (p.Pro180Leu)	Hypertrophic cardiomyopathy [RCV001305518]	uncertain significance	20	44160248	44160248	Human	2	name
126760072	CV999016	single nucleotide variant	NM_020433.5(JPH2):c.349G>T (p.Gly117Cys)	Hypertrophic cardiomyopathy [RCV001299683]	uncertain significance	20	44186357	44186357	Human	2	name
126750259	CV1014132	single nucleotide variant	NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser)	Hypertrophic cardiomyopathy [RCV001315883]	uncertain significance	20	44114869	44114869	Human	2	name
126729859	CV1014133	single nucleotide variant	NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu)	Cardiovascular phenotype [RCV004994403]\|Hypertrophic cardiomyopathy 17 [RCV002493632]\|Hypertrophic cardiomyopathy [RCV001312766]	uncertain significance	20	44115693	44115693	Human	4	name
126748405	CV1014134	single nucleotide variant	NM_020433.5(JPH2):c.1727C>T (p.Pro576Leu)	Hypertrophic cardiomyopathy [RCV001315530]	uncertain significance	20	44115948	44115948	Human	2	name
126748379	CV1014135	single nucleotide variant	NM_020433.5(JPH2):c.1057C>T (p.Arg353Cys)	Hypertrophic cardiomyopathy [RCV001326330]	uncertain significance	20	44159730	44159730	Human	2	name
126760115	CV1034700	single nucleotide variant	NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr)	Cardiovascular phenotype [RCV002412066]\|Hypertrophic cardiomyopathy [RCV001340318]	uncertain significance	20	44115727	44115727	Human	2	name
126746717	CV1034701	single nucleotide variant	NM_020433.5(JPH2):c.1736C>T (p.Pro579Leu)	Cardiovascular phenotype [RCV004995688]\|Hypertrophic cardiomyopathy [RCV001337365]	likely benign\|uncertain significance	20	44115939	44115939	Human	2	name
126726842	CV1034702	single nucleotide variant	NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg)	Hypertrophic cardiomyopathy 17 [RCV002504551]\|Hypertrophic cardiomyopathy [RCV001348571]	uncertain significance	20	44116167	44116167	Human	3	name
126914659	CV1038765	single nucleotide variant	NM_020433.5(JPH2):c.1667G>A (p.Arg556Gln)	not provided [RCV001358446]	uncertain significance	20	44116008	44116008	Human		name
126915424	CV1051715	single nucleotide variant	NM_020433.5(JPH2):c.1460C>A (p.Pro487Gln)	Hypertrophic cardiomyopathy [RCV001370907]	uncertain significance	20	44116215	44116215	Human	2	name
126920487	CV1051716	single nucleotide variant	NM_020433.5(JPH2):c.1207C>G (p.Gln403Glu)	Hypertrophic cardiomyopathy [RCV001373832]	uncertain significance	20	44118586	44118586	Human	2	name
150415237	CV1178462	single nucleotide variant	NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn)	Cardiovascular phenotype [RCV002458521]\|not provided [RCV001548486]	uncertain significance	20	44159638	44159638	Human		name
150416997	CV1181858	single nucleotide variant	NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)	Cardiovascular phenotype [RCV002405234]\|Hypertrophic cardiomyopathy 17 [RCV002506654]\|Hypertrophic cardiomyopathy [RCV002568311]\|not provided [RCV001549921]	uncertain significance	20	44115903	44115903	Human	4	name
150429004	CV1188851	single nucleotide variant	NM_020433.5(JPH2):c.1739C>A (p.Pro580His)	Cardiovascular phenotype [RCV004995945]\|not provided [RCV001563023]	uncertain significance	20	44115936	44115936	Human		name
150411603	CV1195832	duplication	NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)	Cardiomyopathy, dilated, 2E [RCV001572617]	pathogenic	20	44115754	44115755	Human	1	name
150414185	CV1199214	single nucleotide variant	NM_020433.5(JPH2):c.1240A>G (p.Ile414Val)	Cardiovascular phenotype [RCV002386467]\|Hypertrophic cardiomyopathy [RCV002573235]\|not provided [RCV001574854]	uncertain significance	20	44118553	44118553	Human	2	name
150448651	CV1274233	single nucleotide variant	NM_020433.5(JPH2):c.1247G>A (p.Arg416His)	Hypertrophic cardiomyopathy [RCV001882770]\|not provided [RCV001700840]	uncertain significance	20	44118546	44118546	Human	2	name
150488453	CV1274520	single nucleotide variant	NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg)	Cardiovascular phenotype [RCV002405277]\|not provided [RCV001699861]	uncertain significance	20	44116124	44116124	Human		name
150548680	CV1294450	single nucleotide variant	NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp)	not provided [RCV001751942]	uncertain significance	20	44115824	44115824	Human		name
150555212	CV1297641	single nucleotide variant	NM_020433.5(JPH2):c.1275C>A (p.Asp425Glu)	not provided [RCV001772548]	uncertain significance	20	44118518	44118518	Human		name
150555572	CV1304718	single nucleotide variant	NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala)	Cardiovascular phenotype [RCV002405307]\|Hypertrophic cardiomyopathy [RCV002540555]\|not provided [RCV001772966]\|not specified [RCV004587211]	likely benign\|uncertain significance	20	44115955	44115955	Human	2	name
150556721	CV1305648	single nucleotide variant	NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro)	Cardiovascular phenotype [RCV003163890]\|Hypertrophic cardiomyopathy [RCV002540599]\|not provided [RCV001774638]	uncertain significance	20	44115772	44115772	Human	2	name
151891233	CV1346962	single nucleotide variant	NM_020433.5(JPH2):c.1882A>G (p.Ile628Val)	Hypertrophic cardiomyopathy [RCV002039050]	uncertain significance	20	44115793	44115793	Human	2	name
151878356	CV1350295	single nucleotide variant	NM_020433.5(JPH2):c.1906A>G (p.Lys636Glu)	Hypertrophic cardiomyopathy [RCV002036531]	uncertain significance	20	44115769	44115769	Human	2	name
151861521	CV1353325	single nucleotide variant	NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg)	Cardiovascular phenotype [RCV003167271]\|Hypertrophic cardiomyopathy [RCV001924059]	uncertain significance	20	44116210	44116210	Human	2	name
151831900	CV1356025	single nucleotide variant	NM_020433.5(JPH2):c.1132G>A (p.Ala378Thr)	Hypertrophic cardiomyopathy [RCV002030883]	uncertain significance	20	44159655	44159655	Human	2	name
151866947	CV1358743	single nucleotide variant	NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)	Cardiovascular phenotype [RCV002407140]\|Hypertrophic cardiomyopathy 17 [RCV002497821]\|Hypertrophic cardiomyopathy [RCV001939273]\|not provided [RCV005251304]	uncertain significance	20	44115817	44115817	Human	4	name
151749623	CV1358929	single nucleotide variant	NM_020433.5(JPH2):c.1202C>T (p.Ala401Val)	Cardiovascular phenotype [RCV003355715]\|Hypertrophic cardiomyopathy [RCV001969052]	uncertain significance	20	44118591	44118591	Human	2	name
151758764	CV1361624	single nucleotide variant	NM_020433.5(JPH2):c.1777G>A (p.Glu593Lys)	Cardiovascular phenotype [RCV004996102]\|Hypertrophic cardiomyopathy [RCV001928265]	uncertain significance	20	44115898	44115898	Human	2	name
151770577	CV1366233	single nucleotide variant	NM_020433.5(JPH2):c.1430C>G (p.Thr477Ser)	Cardiovascular phenotype [RCV005370046]\|Hypertrophic cardiomyopathy [RCV001929480]	uncertain significance	20	44116245	44116245	Human	2	name
151802668	CV1369105	single nucleotide variant	NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)	Cardiovascular phenotype [RCV003375535]\|Hypertrophic cardiomyopathy [RCV002028243]\|not provided [RCV003318709]	uncertain significance	20	44116188	44116188	Human	2	name
151799593	CV1396553	single nucleotide variant	NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser)	Cardiovascular phenotype [RCV002361175]\|Hypertrophic cardiomyopathy [RCV001917589]	uncertain significance	20	44118555	44118555	Human	2	name
151753714	CV1407319	single nucleotide variant	NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu)	Cardiovascular phenotype [RCV002389040]\|Hypertrophic cardiomyopathy [RCV002023652]	uncertain significance	20	44118546	44118546	Human	2	name
151840320	CV1407862	single nucleotide variant	NM_020433.5(JPH2):c.1142G>T (p.Arg381Leu)	Cardiovascular phenotype [RCV004041139]\|Hypertrophic cardiomyopathy [RCV001881272]\|JPH2-related disorder [RCV003407880]	uncertain significance	20	44159645	44159645	Human	3	name , trait , alternate_id
8691350	CV141310	single nucleotide variant	NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)	Cardiomyopathy, dilated, 2E [RCV001730568]\|Cardiovascular phenotype [RCV000250755]\|Hypertrophic cardiomyopathy 17 [RCV000625200]\|Hypertrophic cardiomyopathy [RCV000860234]\|Long QT syndrome [RCV000623095]\|not provided [RCV004717026]\|not specified [RCV000172752]	benign	20	44118607	44118607	Human	6	name
151825728	CV1418347	single nucleotide variant	NM_020433.5(JPH2):c.1513G>C (p.Gly505Arg)	Hypertrophic cardiomyopathy [RCV001920002]	uncertain significance	20	44116162	44116162	Human	2	name
151892709	CV1419049	single nucleotide variant	NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)	Cardiovascular phenotype [RCV002397949]\|Hypertrophic cardiomyopathy 17 [RCV002507627]\|Hypertrophic cardiomyopathy [RCV001944401]\|not provided [RCV004591645]	uncertain significance	20	44116098	44116098	Human	4	name
151840977	CV1423674	single nucleotide variant	NM_020433.5(JPH2):c.1630G>A (p.Ala544Thr)	Hypertrophic cardiomyopathy [RCV001977689]	uncertain significance	20	44116045	44116045	Human	2	name
151823187	CV1425106	single nucleotide variant	NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe)	Cardiovascular phenotype [RCV002407020]\|Hypertrophic cardiomyopathy [RCV001919778]	uncertain significance	20	44115894	44115894	Human	2	name
151723786	CV1425156	single nucleotide variant	NM_020433.5(JPH2):c.1181C>G (p.Ala394Gly)	Hypertrophic cardiomyopathy [RCV001891466]	uncertain significance	20	44118612	44118612	Human	2	name
151783380	CV1434573	single nucleotide variant	NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg)	Hypertrophic cardiomyopathy [RCV001897447]\|not provided [RCV004774499]	uncertain significance	20	44115861	44115861	Human	2	name
151872176	CV1435168	single nucleotide variant	NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys)	Cardiovascular phenotype [RCV003365544]\|Hypertrophic cardiomyopathy [RCV001939958]	uncertain significance	20	44115829	44115829	Human	2	name
151802462	CV1437568	single nucleotide variant	NM_020433.5(JPH2):c.1715G>A (p.Arg572His)	Hypertrophic cardiomyopathy [RCV001899186]	uncertain significance	20	44115960	44115960	Human	2	name
151821350	CV1449520	single nucleotide variant	NM_020433.5(JPH2):c.1862A>G (p.Lys621Arg)	Hypertrophic cardiomyopathy [RCV002013412]	uncertain significance	20	44115813	44115813	Human	2	name
151863852	CV1454518	single nucleotide variant	NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)	Cardiovascular phenotype [RCV002397936]\|Hypertrophic cardiomyopathy 17 [RCV002479471]\|Hypertrophic cardiomyopathy [RCV001938918]	likely benign\|uncertain significance	20	44115922	44115922	Human	4	name
151719594	CV1468725	single nucleotide variant	NM_020433.5(JPH2):c.1777G>C (p.Glu593Gln)	Hypertrophic cardiomyopathy [RCV002003457]	uncertain significance	20	44115898	44115898	Human	2	name
151859966	CV1486707	single nucleotide variant	NM_020433.5(JPH2):c.1139C>A (p.Ala380Glu)	Hypertrophic cardiomyopathy [RCV001883792]	uncertain significance	20	44159648	44159648	Human	2	name
151720183	CV1498276	single nucleotide variant	NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu)	Cardiovascular phenotype [RCV002388937]\|Hypertrophic cardiomyopathy [RCV001965853]	uncertain significance	20	44116266	44116266	Human	2	name
151881070	CV1504080	single nucleotide variant	NM_020433.5(JPH2):c.1904C>A (p.Ala635Asp)	Hypertrophic cardiomyopathy [RCV002020170]	uncertain significance	20	44115771	44115771	Human	2	name
151723038	CV1511773	single nucleotide variant	NM_020433.5(JPH2):c.1062G>C (p.Met354Ile)	Cardiovascular phenotype [RCV002407254]\|Hypertrophic cardiomyopathy [RCV002003929]\|not provided [RCV005235627]	uncertain significance	20	44159725	44159725	Human	2	name
151873500	CV1513830	single nucleotide variant	NM_020433.5(JPH2):c.1790C>T (p.Ser597Leu)	Hypertrophic cardiomyopathy [RCV001940111]	uncertain significance	20	44115885	44115885	Human	2	name
153349393	CV1693227	single nucleotide variant	NM_020433.5(JPH2):c.1088G>A (p.Arg363His)	Cardiovascular phenotype [RCV002427748]\|not provided [RCV002275794]	uncertain significance	20	44159699	44159699	Human		name
155741551	CV1760577	single nucleotide variant	NM_020433.5(JPH2):c.1013A>G (p.Glu338Gly)	not provided [RCV002302637]	uncertain significance	20	44159774	44159774	Human		name
155706533	CV1778353	single nucleotide variant	NM_020433.5(JPH2):c.1529G>A (p.Gly510Asp)	Hypertrophic cardiomyopathy [RCV002295972]	uncertain significance	20	44116146	44116146	Human	2	name
9832591	CV178755	single nucleotide variant	NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys)	Cardiovascular phenotype [RCV003298175]\|Hypertrophic cardiomyopathy 17 [RCV005394539]\|Hypertrophic cardiomyopathy [RCV005089772]\|Left ventricular noncompaction cardiomyopathy [RCV000157588]\|not provided [RCV000489365]	uncertain significance	20	44115925	44115925	Human	6	name
155694834	CV1788936	single nucleotide variant	NM_020433.5(JPH2):c.1139C>T (p.Ala380Val)	Cardiovascular phenotype [RCV002321071]	uncertain significance	20	44159648	44159648	Human		name
155683902	CV1792554	single nucleotide variant	NM_020433.5(JPH2):c.1142G>A (p.Arg381His)	Cardiovascular phenotype [RCV002457255]\|Hypertrophic cardiomyopathy [RCV003586334]	uncertain significance	20	44159645	44159645	Human	2	name
155738886	CV1794120	single nucleotide variant	NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)	Cardiovascular phenotype [RCV002332011]\|Hypertrophic cardiomyopathy [RCV003094644]	uncertain significance	20	44118622	44118622	Human	2	name
155714558	CV1815323	single nucleotide variant	NM_020433.5(JPH2):c.1232A>C (p.Glu411Ala)	Cardiovascular phenotype [RCV002362143]	uncertain significance	20	44118561	44118561	Human		name
155667394	CV1819685	single nucleotide variant	NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser)	Cardiovascular phenotype [RCV002385116]	uncertain significance	20	44118550	44118550	Human		name
155728777	CV1823390	single nucleotide variant	NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala)	Cardiovascular phenotype [RCV002400530]	uncertain significance	20	44118544	44118544	Human		name
155718841	CV1827842	single nucleotide variant	NM_020433.5(JPH2):c.1598G>A (p.Arg533His)	Cardiovascular phenotype [RCV002398560]\|Hypertrophic cardiomyopathy 17 [RCV003224632]\|Hypertrophic cardiomyopathy [RCV003774399]	uncertain significance	20	44116077	44116077	Human	4	name
155712891	CV1828078	single nucleotide variant	NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp)	Cardiovascular phenotype [RCV002403898]	uncertain significance	20	44116009	44116009	Human		name
155704746	CV1828199	single nucleotide variant	NM_020433.5(JPH2):c.1004A>G (p.His335Arg)	Cardiovascular phenotype [RCV002395129]	uncertain significance	20	44159783	44159783	Human		name
155744927	CV1828292	single nucleotide variant	NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala)	Cardiovascular phenotype [RCV002414511]	uncertain significance	20	44115999	44115999	Human		name
155700363	CV1828422	single nucleotide variant	NM_020433.5(JPH2):c.1058G>A (p.Arg353His)	Cardiovascular phenotype [RCV002401412]	likely benign\|uncertain significance	20	44159729	44159729	Human		name
155730453	CV1828660	single nucleotide variant	NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)	Cardiovascular phenotype [RCV002407543]\|Hypertrophic cardiomyopathy [RCV003748426]	uncertain significance	20	44115921	44115921	Human	2	name
155730579	CV1828691	single nucleotide variant	NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)	Cardiovascular phenotype [RCV002407561]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44115919	44115919	Human		name
155671249	CV1829170	single nucleotide variant	NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro)	Cardiovascular phenotype [RCV002385848]\|not specified [RCV005419455]	uncertain significance	20	44116347	44116347	Human		name
155681262	CV1829657	single nucleotide variant	NM_020433.5(JPH2):c.1402G>A (p.Glu468Lys)	Cardiovascular phenotype [RCV002389322]	uncertain significance	20	44116273	44116273	Human		name
155688629	CV1829969	single nucleotide variant	NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)	Cardiovascular phenotype [RCV002391720]\|Hypertrophic cardiomyopathy 17 [RCV002471283]	uncertain significance	20	44116258	44116258	Human	1	name
155704041	CV1831084	single nucleotide variant	NM_020433.5(JPH2):c.1648G>T (p.Ala550Ser)	Cardiovascular phenotype [RCV002395012]	uncertain significance	20	44116027	44116027	Human		name
155737891	CV1831753	single nucleotide variant	NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr)	Cardiovascular phenotype [RCV002410050]	uncertain significance	20	44115871	44115871	Human		name
155738140	CV1831920	single nucleotide variant	NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu)	Cardiovascular phenotype [RCV002410218]	uncertain significance	20	44115862	44115862	Human		name
155670689	CV1832407	single nucleotide variant	NM_020433.5(JPH2):c.1321G>A (p.Glu441Lys)	Cardiovascular phenotype [RCV002385705]	uncertain significance	20	44116354	44116354	Human		name
155670725	CV1832416	single nucleotide variant	NM_020433.5(JPH2):c.1322A>T (p.Glu441Val)	Cardiovascular phenotype [RCV002385714]\|Hypertrophic cardiomyopathy [RCV005097440]	uncertain significance	20	44116353	44116353	Human	2	name
155708940	CV1833670	single nucleotide variant	NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)	Cardiovascular phenotype [RCV002403399]\|Hypertrophic cardiomyopathy [RCV003100720]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44116123	44116123	Human	2	name
155731909	CV1833900	single nucleotide variant	NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly)	Cardiovascular phenotype [RCV002401082]\|not provided [RCV004765499]	uncertain significance	20	44116053	44116053	Human		name
155732075	CV1833942	single nucleotide variant	NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)	Cardiovascular phenotype [RCV002401124]\|Hypertrophic cardiomyopathy [RCV003097023]	uncertain significance	20	44116051	44116051	Human	2	name
155732152	CV1833960	single nucleotide variant	NM_020433.5(JPH2):c.1625G>A (p.Arg542His)	Cardiovascular phenotype [RCV002401143]	uncertain significance	20	44116050	44116050	Human		name
155715160	CV1834965	single nucleotide variant	NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg)	Cardiovascular phenotype [RCV002404251]\|not provided [RCV004546726]	uncertain significance	20	44115879	44115879	Human		name
155731804	CV1834967	single nucleotide variant	NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu)	Cardiovascular phenotype [RCV002407800]	uncertain significance	20	44115879	44115879	Human		name
155720516	CV1835795	single nucleotide variant	NM_020433.5(JPH2):c.1025G>A (p.Arg342His)	Cardiovascular phenotype [RCV002380796]\|Hypertrophic cardiomyopathy 17 [RCV005356114]\|Hypertrophic cardiomyopathy [RCV005097418]\|not provided [RCV003318721]	uncertain significance	20	44159762	44159762	Human	4	name
155734140	CV1836281	single nucleotide variant	NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)	Cardiovascular phenotype [RCV002383800]\|Hypertrophic cardiomyopathy [RCV003748421]\|not provided [RCV003130712]	likely benign\|uncertain significance	20	44116300	44116300	Human	2	name
155693528	CV1837207	single nucleotide variant	NM_020433.5(JPH2):c.1043A>G (p.Lys348Arg)	Cardiovascular phenotype [RCV002392571]	uncertain significance	20	44159744	44159744	Human		name
155744998	CV1837870	single nucleotide variant	NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)	Cardiovascular phenotype [RCV002414546]\|Hypertrophic cardiomyopathy [RCV003097109]	uncertain significance	20	44115993	44115993	Human	2	name
155745125	CV1838009	single nucleotide variant	NM_020433.5(JPH2):c.1689C>G (p.Tyr563Ter)	Cardiovascular phenotype [RCV002414606]	uncertain significance	20	44115986	44115986	Human		name
155745153	CV1838043	single nucleotide variant	NM_020433.5(JPH2):c.1054C>T (p.Arg352Cys)	Cardiovascular phenotype [RCV002414624]	uncertain significance	20	44159733	44159733	Human		name
155743969	CV1838712	single nucleotide variant	NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn)	Cardiovascular phenotype [RCV002413052]	uncertain significance	20	44115822	44115822	Human		name
155745849	CV1838856	single nucleotide variant	NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)	Cardiovascular phenotype [RCV002414926]	uncertain significance	20	44115814	44115814	Human		name
155743596	CV1839482	single nucleotide variant	NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)	Cardiovascular phenotype [RCV002412901]\|JPH2-related disorder [RCV004725274]	uncertain significance	20	44115831	44115831	Human	1	name , trait , alternate_id
155683313	CV1839929	single nucleotide variant	NM_020433.5(JPH2):c.1982C>T (p.Ala661Val)	Cardiovascular phenotype [RCV002423705]	uncertain significance	20	44115693	44115693	Human		name
155678522	CV1840285	single nucleotide variant	NM_020433.5(JPH2):c.2078A>T (p.His693Leu)	Cardiovascular phenotype [RCV002422237]	uncertain significance	20	44114809	44114809	Human		name
155733703	CV1842687	single nucleotide variant	NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)	Cardiovascular phenotype [RCV002408258]	uncertain significance	20	44115775	44115775	Human		name
155739251	CV1842943	single nucleotide variant	NM_020433.5(JPH2):c.1068G>T (p.Gln356His)	Cardiovascular phenotype [RCV002410592]	uncertain significance	20	44159719	44159719	Human		name
155675631	CV1843289	single nucleotide variant	NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr)	Cardiovascular phenotype [RCV002421653]\|Hypertrophic cardiomyopathy [RCV005058718]\|not provided [RCV005232979]	uncertain significance	20	44115717	44115717	Human	2	name
155676321	CV1843388	single nucleotide variant	NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly)	Cardiovascular phenotype [RCV002421752]	uncertain significance	20	44115714	44115714	Human		name
155677131	CV1843782	single nucleotide variant	NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)	Cardiovascular phenotype [RCV002421886]	uncertain significance	20	44114831	44114831	Human		name
155709176	CV1843864	single nucleotide variant	NM_020433.5(JPH2):c.1081A>C (p.Lys361Gln)	Cardiovascular phenotype [RCV002430459]	uncertain significance	20	44159706	44159706	Human		name
155740067	CV1846170	single nucleotide variant	NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro)	Cardiovascular phenotype [RCV002410839]	uncertain significance	20	44115747	44115747	Human		name
155748019	CV1846487	single nucleotide variant	NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)	Cardiovascular phenotype [RCV002417364]	uncertain significance	20	44114876	44114876	Human		name
155699015	CV1847422	single nucleotide variant	NM_020433.5(JPH2):c.1087C>T (p.Arg363Cys)	Cardiovascular phenotype [RCV002428124]	uncertain significance	20	44159700	44159700	Human		name
155684142	CV1849531	single nucleotide variant	NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser)	Cardiovascular phenotype [RCV002423844]	uncertain significance	20	44115685	44115685	Human		name
155747600	CV1849624	single nucleotide variant	NM_020433.5(JPH2):c.1073A>G (p.Lys358Arg)	Cardiovascular phenotype [RCV002417002]	uncertain significance	20	44159714	44159714	Human		name
155725865	CV1851999	single nucleotide variant	NM_020433.5(JPH2):c.1103A>G (p.His368Arg)	Cardiovascular phenotype [RCV002433305]	uncertain significance	20	44159684	44159684	Human		name
155703494	CV1852353	single nucleotide variant	NM_020433.5(JPH2):c.1109T>C (p.Val370Ala)	Cardiovascular phenotype [RCV002428847]\|Hypertrophic cardiomyopathy [RCV005098246]	uncertain significance	20	44159678	44159678	Human	2	name
155686577	CV1852640	single nucleotide variant	NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)	Cardiovascular phenotype [RCV002441579]\|Hypertrophic cardiomyopathy [RCV003775379]	uncertain significance	20	44159672	44159672	Human	2	name
10042929	CV186288	single nucleotide variant	NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)	Cardiovascular phenotype [RCV002345558]\|Hypertrophic cardiomyopathy 17 [RCV002478520]\|Hypertrophic cardiomyopathy [RCV000168201]\|JPH2-related disorder [RCV004748612]\|Primary familial hypertrophic cardiomyopathy [RCV000845320]\|not provided [RCV000757413]\|not spec ... (more) ified [RCV000217886]	conflicting interpretations of pathogenicity\|uncertain significance	20	44118589	44118589	Human	6	name , trait , alternate_id
156280273	CV1877029	single nucleotide variant	NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)	Cardiovascular phenotype [RCV003171066]\|Hypertrophic cardiomyopathy [RCV003061038]	uncertain significance	20	44116308	44116308	Human	2	name
156350581	CV1886220	single nucleotide variant	NM_020433.5(JPH2):c.1795C>G (p.Pro599Ala)	Hypertrophic cardiomyopathy [RCV003090942]	uncertain significance	20	44115880	44115880	Human	2	name
156196163	CV1889649	single nucleotide variant	NM_020433.5(JPH2):c.1652C>T (p.Pro551Leu)	Cardiovascular phenotype [RCV004071803]\|Hypertrophic cardiomyopathy [RCV003084041]	uncertain significance	20	44116023	44116023	Human	2	name
156247532	CV1890574	single nucleotide variant	NM_020433.5(JPH2):c.1079A>T (p.Asn360Ile)	Hypertrophic cardiomyopathy [RCV003085982]	uncertain significance	20	44159708	44159708	Human	2	name
10046331	CV190020	single nucleotide variant	NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)	Hypertrophic cardiomyopathy [RCV002515257]\|not provided [RCV000171954]\|not specified [RCV000219641]	uncertain significance	20	44115724	44115724	Human	2	name
10046332	CV190021	single nucleotide variant	NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu)	Cardiovascular phenotype [RCV002408744]\|not provided [RCV000171955]	uncertain significance	20	44115828	44115828	Human		name
156360443	CV1908487	single nucleotide variant	NM_020433.5(JPH2):c.1376C>A (p.Ala459Glu)	Hypertrophic cardiomyopathy [RCV002602457]	uncertain significance	20	44116299	44116299	Human	2	name
156418401	CV1911058	single nucleotide variant	NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)	Cardiovascular phenotype [RCV004069120]\|Hypertrophic cardiomyopathy [RCV002611589]\|not provided [RCV003232823]	likely benign\|uncertain significance	20	44115849	44115849	Human	2	name
156310809	CV1928407	single nucleotide variant	NM_020433.5(JPH2):c.1726C>T (p.Pro576Ser)	Cardiovascular phenotype [RCV004621749]\|Hypertrophic cardiomyopathy [RCV002648153]	likely benign\|uncertain significance	20	44115949	44115949	Human	2	name
156437361	CV1937505	single nucleotide variant	NM_020433.5(JPH2):c.1332G>T (p.Glu444Asp)	Hypertrophic cardiomyopathy [RCV003106895]	uncertain significance	20	44116343	44116343	Human	2	name
156446847	CV1948210	single nucleotide variant	NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)	Hypertrophic cardiomyopathy [RCV003118366]\|not provided [RCV003443165]	uncertain significance	20	44114821	44114821	Human	2	name
156303231	CV1955698	single nucleotide variant	NM_020433.5(JPH2):c.1871C>G (p.Pro624Arg)	Hypertrophic cardiomyopathy [RCV002578322]	uncertain significance	20	44115804	44115804	Human	2	name
10055800	CV198526	single nucleotide variant	NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp)	Cardiovascular phenotype [RCV000246534]\|Hypertrophic cardiomyopathy 17 [RCV005025292]\|Hypertrophic cardiomyopathy [RCV000629023]\|not provided [RCV000183475]	likely benign\|uncertain significance	20	44115779	44115779	Human	4	name
10055789	CV198527	single nucleotide variant	NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys)	Cardiovascular phenotype [RCV002399669]\|Hypertrophic cardiomyopathy [RCV001327461]\|not specified [RCV000183464]	likely benign\|uncertain significance	20	44115946	44115946	Human	2	name
10055798	CV198528	single nucleotide variant	NM_020433.5(JPH2):c.1582G>A (p.Glu528Lys)	Cardiovascular phenotype [RCV004992069]\|Hypertrophic cardiomyopathy [RCV005089922]\|not provided [RCV000183473]	uncertain significance	20	44116093	44116093	Human	2	name
10055799	CV198529	single nucleotide variant	NM_020433.5(JPH2):c.1424G>A (p.Arg475His)	Cardiomyopathy [RCV000852951]\|Cardiovascular phenotype [RCV000618523]\|Hypertrophic cardiomyopathy [RCV000528093]\|JPH2-related disorder [RCV003947546]\|not provided [RCV001721141]\|not specified [RCV000183474]	benign\|likely benign\|uncertain significance	20	44116251	44116251	Human	5	name , trait , alternate_id
10055797	CV198530	single nucleotide variant	NM_020433.5(JPH2):c.1246C>T (p.Arg416Cys)	not provided [RCV000183472]	uncertain significance	20	44118547	44118547	Human		name
10055796	CV198531	single nucleotide variant	NM_020433.5(JPH2):c.1090C>T (p.Gln364Ter)	not provided [RCV000767064]\|not specified [RCV000183471]	uncertain significance	20	44159697	44159697	Human		name
156261099	CV1997048	single nucleotide variant	NM_020433.5(JPH2):c.1361A>C (p.Asp454Ala)	Hypertrophic cardiomyopathy [RCV002646215]	uncertain significance	20	44116314	44116314	Human	2	name
156009758	CV2011388	single nucleotide variant	NM_020433.5(JPH2):c.1382G>A (p.Gly461Asp)	Cardiovascular phenotype [RCV004632051]\|Hypertrophic cardiomyopathy [RCV002690451]	uncertain significance	20	44116293	44116293	Human	2	name
156038774	CV2026281	single nucleotide variant	NM_020433.5(JPH2):c.1445G>A (p.Gly482Asp)	Hypertrophic cardiomyopathy [RCV002736101]	uncertain significance	20	44116230	44116230	Human	2	name
156211750	CV2042630	single nucleotide variant	NM_020433.5(JPH2):c.1573A>G (p.Thr525Ala)	Hypertrophic cardiomyopathy [RCV002766625]	uncertain significance	20	44116102	44116102	Human	2	name
156215651	CV2047538	single nucleotide variant	NM_020433.5(JPH2):c.1375G>T (p.Ala459Ser)	Hypertrophic cardiomyopathy [RCV002790423]	uncertain significance	20	44116300	44116300	Human	2	name
156233790	CV2048884	single nucleotide variant	NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)	Cardiovascular phenotype [RCV004064853]\|Hypertrophic cardiomyopathy [RCV002791096]	uncertain significance	20	44114866	44114866	Human	2	name
156033459	CV2059262	single nucleotide variant	NM_020433.5(JPH2):c.1263G>T (p.Glu421Asp)	Hypertrophic cardiomyopathy [RCV002796152]	uncertain significance	20	44118530	44118530	Human	2	name
156014700	CV2103938	single nucleotide variant	NM_020433.5(JPH2):c.1459C>T (p.Pro487Ser)	Hypertrophic cardiomyopathy [RCV002909300]	uncertain significance	20	44116216	44116216	Human	2	name
156144593	CV2113392	single nucleotide variant	NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)	Cardiovascular phenotype [RCV003170621]\|Hypertrophic cardiomyopathy [RCV002915034]	likely benign\|uncertain significance	20	44116009	44116009	Human	2	name
155942566	CV2115043	single nucleotide variant	NM_020433.5(JPH2):c.1355C>T (p.Pro452Leu)	Hypertrophic cardiomyopathy [RCV002904572]	uncertain significance	20	44116320	44116320	Human	2	name
156027529	CV2131420	single nucleotide variant	NM_020433.5(JPH2):c.1699C>T (p.His567Tyr)	Hypertrophic cardiomyopathy [RCV002976458]\|not provided [RCV004725442]	uncertain significance	20	44115976	44115976	Human	2	name
10407186	CV213471	single nucleotide variant	NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp)	Cardiovascular phenotype [RCV002390538]\|Hypertrophic cardiomyopathy 17 [RCV005031749]\|Hypertrophic cardiomyopathy [RCV000199399]	uncertain significance	20	44116189	44116189	Human	4	name
156046862	CV2144208	single nucleotide variant	NM_020433.5(JPH2):c.1430C>A (p.Thr477Asn)	Cardiovascular phenotype [RCV004068502]\|Hypertrophic cardiomyopathy [RCV002999736]	uncertain significance	20	44116245	44116245	Human	2	name
156033922	CV2152766	single nucleotide variant	NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)	Cardiovascular phenotype [RCV003170862]\|Hypertrophic cardiomyopathy [RCV003018793]	uncertain significance	20	44116279	44116279	Human	2	name
156338654	CV2224968	single nucleotide variant	NM_020433.5(JPH2):c.1523G>A (p.Ser508Asn)	Cardiovascular phenotype [RCV004094817]	uncertain significance	20	44116152	44116152	Human		name
11040306	CV224561	single nucleotide variant	NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)	Cardiovascular phenotype [RCV002399769]\|Hypertrophic cardiomyopathy [RCV001219739]\|Primary dilated cardiomyopathy [RCV000208107]\|not provided [RCV001529733]	uncertain significance	20	44116111	44116111	Human	3	name
11040147	CV224562	single nucleotide variant	NM_020433.5(JPH2):c.1540G>A (p.Gly514Ser)	Left ventricular noncompaction cardiomyopathy [RCV000208460]	uncertain significance	20	44116135	44116135	Human	2	name
11040347	CV224563	single nucleotide variant	NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)	Cardiomyopathy, dilated, 2E [RCV001572616]\|Cardiovascular phenotype [RCV003298273]\|Hypertrophic cardiomyopathy 17 [RCV002478749]\|Primary dilated cardiomyopathy [RCV000208272]	pathogenic\|uncertain significance	20	44118511	44118511	Human	3	name
11040302	CV224564	single nucleotide variant	NM_020433.5(JPH2):c.1227C>G (p.Asn409Lys)	Primary dilated cardiomyopathy [RCV000208089]	uncertain significance	20	44118566	44118566	Human	1	name
11089379	CV231099	single nucleotide variant	NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)	Cardiovascular phenotype [RCV002390580]\|not provided [RCV001753643]\|not specified [RCV000214728]	uncertain significance	20	44116020	44116020	Human		name
11094843	CV231100	single nucleotide variant	NM_020433.5(JPH2):c.1640C>T (p.Ala547Val)	Cardiovascular phenotype [RCV003165539]\|not specified [RCV000221557]	uncertain significance	20	44116035	44116035	Human		name
156306377	CV2335183	single nucleotide variant	NM_020433.5(JPH2):c.1963C>T (p.Arg655Trp)	Cardiovascular phenotype [RCV004184711]\|Hypertrophic cardiomyopathy [RCV005059391]	uncertain significance	20	44115712	44115712	Human	2	name
329357745	CV2422155	single nucleotide variant	NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)	Cardiovascular phenotype [RCV003164996]\|Hypertrophic cardiomyopathy 17 [RCV005399272]\|not provided [RCV004784128]	uncertain significance	20	44114813	44114813	Human	2	name
329380074	CV2426383	single nucleotide variant	NM_020433.5(JPH2):c.1924G>A (p.Ala642Thr)	Cardiovascular phenotype [RCV003187439]	uncertain significance	20	44115751	44115751	Human		name
329380079	CV2426386	single nucleotide variant	NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg)	Cardiovascular phenotype [RCV003187442]	uncertain significance	20	44115939	44115939	Human		name
329380085	CV2426390	single nucleotide variant	NM_020433.5(JPH2):c.1438C>T (p.Pro480Ser)	Cardiovascular phenotype [RCV003187446]	uncertain significance	20	44116237	44116237	Human		name
329380086	CV2426391	single nucleotide variant	NM_020433.5(JPH2):c.1016G>A (p.Gly339Asp)	Cardiovascular phenotype [RCV003187447]	uncertain significance	20	44159771	44159771	Human		name
329380087	CV2426392	single nucleotide variant	NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)	Cardiovascular phenotype [RCV003187448]\|Hypertrophic cardiomyopathy [RCV003748465]	uncertain significance	20	44116366	44116366	Human	2	name
329380090	CV2426393	single nucleotide variant	NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu)	Cardiovascular phenotype [RCV003187449]	uncertain significance	20	44159706	44159706	Human		name
329380091	CV2426394	single nucleotide variant	NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys)	Cardiovascular phenotype [RCV003187450]\|not provided [RCV005402015]	uncertain significance	20	44159765	44159765	Human		name
329380093	CV2426396	single nucleotide variant	NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser)	Cardiovascular phenotype [RCV003187452]	uncertain significance	20	44115691	44115691	Human		name
11349568	CV243579	single nucleotide variant	NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp)	Cardiovascular phenotype [RCV002379019]\|Hypertrophic cardiomyopathy [RCV000231029]	likely pathogenic\|uncertain significance	20	44116312	44116312	Human	2	name
329398227	CV2464925	single nucleotide variant	NM_020433.5(JPH2):c.1423C>T (p.Arg475Cys)	Cardiovascular phenotype [RCV004284854]	uncertain significance	20	44116252	44116252	Human		name
11544803	CV259055	single nucleotide variant	NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr)	Cardiovascular phenotype [RCV000244278]\|Hypertrophic cardiomyopathy 17 [RCV002487154]	uncertain significance	20	44115685	44115685	Human	2	name
11551073	CV259056	single nucleotide variant	NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln)	Cardiovascular phenotype [RCV000252573]	uncertain significance	20	44115688	44115688	Human		name
11548163	CV259060	single nucleotide variant	NM_020433.5(JPH2):c.1589C>T (p.Ala530Val)	Cardiovascular phenotype [RCV000248731]\|Hypertrophic cardiomyopathy [RCV001854974]	uncertain significance	20	44116086	44116086	Human	2	name
11548171	CV259061	single nucleotide variant	NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser)	Cardiovascular phenotype [RCV000248740]\|Hypertrophic cardiomyopathy 17 [RCV002487159]\|Hypertrophic cardiomyopathy [RCV000705820]	uncertain significance	20	44116318	44116318	Human	4	name
401783193	CV2716173	single nucleotide variant	NM_020433.5(JPH2):c.1379C>T (p.Ala460Val)	Cardiovascular phenotype [RCV004323407]\|Hypertrophic cardiomyopathy [RCV003748475]	uncertain significance	20	44116296	44116296	Human	2	name
401784134	CV2721076	single nucleotide variant	NM_020433.5(JPH2):c.1324A>G (p.Ile442Val)	Cardiovascular phenotype [RCV003310283]	uncertain significance	20	44116351	44116351	Human		name
401777632	CV2729019	single nucleotide variant	NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn)	Cardiovascular phenotype [RCV003306450]	uncertain significance	20	44116315	44116315	Human		name
401745490	CV2729025	single nucleotide variant	NM_020433.5(JPH2):c.1066C>T (p.Gln356Ter)	Cardiovascular phenotype [RCV003293537]	uncertain significance	20	44159721	44159721	Human		name
401862152	CV2760573	single nucleotide variant	NM_020433.5(JPH2):c.1400G>A (p.Arg467His)	Cardiovascular phenotype [RCV003358323]	uncertain significance	20	44116275	44116275	Human		name
401899642	CV2760574	single nucleotide variant	NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)	Cardiovascular phenotype [RCV003377962]\|JPH2-related disorder [RCV003397015]	uncertain significance	20	44115838	44115838	Human	1	name , trait , alternate_id
401889263	CV2760575	single nucleotide variant	NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)	Cardiovascular phenotype [RCV003368354]	uncertain significance	20	44114872	44114872	Human		name
401889265	CV2760577	single nucleotide variant	NM_020433.5(JPH2):c.1661C>T (p.Pro554Leu)	Cardiovascular phenotype [RCV003368356]	uncertain significance	20	44116014	44116014	Human		name
401889267	CV2760578	single nucleotide variant	NM_020433.5(JPH2):c.1441G>A (p.Glu481Lys)	Cardiovascular phenotype [RCV003368357]\|Hypertrophic cardiomyopathy [RCV005104000]	uncertain significance	20	44116234	44116234	Human	2	name
401862153	CV2760581	single nucleotide variant	NM_020433.5(JPH2):c.1049C>A (p.Thr350Asn)	Cardiovascular phenotype [RCV003358324]	uncertain significance	20	44159738	44159738	Human		name
401862157	CV2760585	single nucleotide variant	NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu)	Cardiovascular phenotype [RCV003358327]	uncertain significance	20	44116215	44116215	Human		name
401889272	CV2760586	single nucleotide variant	NM_020433.5(JPH2):c.1550G>A (p.Ser517Asn)	Cardiovascular phenotype [RCV003368361]	uncertain significance	20	44116125	44116125	Human		name
401909330	CV2803973	single nucleotide variant	NM_020433.5(JPH2):c.1472C>A (p.Pro491His)	JPH2-related disorder [RCV003397839]	uncertain significance	20	44116203	44116203	Human		name , trait , alternate_id
405160726	CV2860034	single nucleotide variant	NM_020433.5(JPH2):c.1442A>C (p.Glu481Ala)	Hypertrophic cardiomyopathy [RCV003586709]	uncertain significance	20	44116233	44116233	Human	2	name
405175500	CV2933172	single nucleotide variant	NM_020433.5(JPH2):c.1942G>A (p.Ala648Thr)	Hypertrophic cardiomyopathy [RCV003588054]	uncertain significance	20	44115733	44115733	Human	2	name
405102938	CV2969568	single nucleotide variant	NM_020433.5(JPH2):c.1795C>T (p.Pro599Ser)	Hypertrophic cardiomyopathy [RCV003749489]	uncertain significance	20	44115880	44115880	Human	2	name
405251319	CV3023306	single nucleotide variant	NM_020433.5(JPH2):c.1936A>G (p.Thr646Ala)	Hypertrophic cardiomyopathy [RCV003747916]	uncertain significance	20	44115739	44115739	Human	2	name
405101818	CV3058474	single nucleotide variant	NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr)	Cardiovascular phenotype [RCV004992776]\|Hypertrophic cardiomyopathy [RCV003748950]	likely benign\|uncertain significance	20	44159625	44159625	Human	2	name
405103735	CV3077531	single nucleotide variant	NM_020433.5(JPH2):c.2077C>G (p.His693Asp)	Hypertrophic cardiomyopathy [RCV003749758]	uncertain significance	20	44114810	44114810	Human	2	name
405050903	CV3081619	single nucleotide variant	NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu)	not provided [RCV003740590]	uncertain significance	20	44115936	44115936	Human		name
405102768	CV3119522	single nucleotide variant	NM_020433.5(JPH2):c.1393C>T (p.Pro465Ser)	Hypertrophic cardiomyopathy [RCV003811784]	uncertain significance	20	44116282	44116282	Human	2	name
405141333	CV3131235	single nucleotide variant	NM_020433.5(JPH2):c.1516C>G (p.Leu506Val)	Cardiovascular phenotype [RCV004366888]\|Hypertrophic cardiomyopathy [RCV003839275]	uncertain significance	20	44116159	44116159	Human	2	name
405203507	CV3143921	single nucleotide variant	NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly)	Hypertrophic cardiomyopathy [RCV003844711]	uncertain significance	20	44116333	44116333	Human	2	name
402469234	CV3174705	single nucleotide variant	NM_020433.5(JPH2):c.2035A>G (p.Met679Val)	Hypertrophic cardiomyopathy [RCV003873815]	uncertain significance	20	44114852	44114852	Human	2	name
402504350	CV3181458	single nucleotide variant	NM_020433.5(JPH2):c.1817C>T (p.Ala606Val)	Hypertrophic cardiomyopathy [RCV003878292]	uncertain significance	20	44115858	44115858	Human	2	name
402508401	CV3181715	single nucleotide variant	NM_020433.5(JPH2):c.1712T>C (p.Val571Ala)	Cardiovascular phenotype [RCV005363299]\|Hypertrophic cardiomyopathy [RCV003878549]	uncertain significance	20	44115963	44115963	Human	2	name
405261340	CV3212620	single nucleotide variant	NM_020433.5(JPH2):c.1055G>A (p.Arg352His)	JPH2-related disorder [RCV003944451]	uncertain significance	20	44159732	44159732	Human		name , trait , alternate_id
405705638	CV3225138	single nucleotide variant	NM_020433.5(JPH2):c.1039G>A (p.Val347Ile)	Cardiomyopathy, dilated, 2E [RCV003990094]	uncertain significance	20	44159748	44159748	Human	1	name
405700238	CV3227263	single nucleotide variant	NM_020433.5(JPH2):c.2066T>A (p.Ile689Asn)	Cardiomyopathy, dilated, 2E [RCV003993615]	uncertain significance	20	44114821	44114821	Human	1	name
405725878	CV3381806	single nucleotide variant	NM_020433.5(JPH2):c.1024C>T (p.Arg342Cys)	Cardiovascular phenotype [RCV004524494]\|Hypertrophic cardiomyopathy [RCV005100609]	uncertain significance	20	44159763	44159763	Human	2	name
405725880	CV3381807	single nucleotide variant	NM_020433.5(JPH2):c.1404G>C (p.Glu468Asp)	Cardiovascular phenotype [RCV004524495]\|Hypertrophic cardiomyopathy [RCV005059471]	uncertain significance	20	44116271	44116271	Human	2	name
405725895	CV3381809	single nucleotide variant	NM_020433.5(JPH2):c.1580C>T (p.Ser527Phe)	Cardiovascular phenotype [RCV004524497]	uncertain significance	20	44116095	44116095	Human		name
405725903	CV3381810	single nucleotide variant	NM_020433.5(JPH2):c.1677G>C (p.Glu559Asp)	Cardiovascular phenotype [RCV004524498]	uncertain significance	20	44115998	44115998	Human		name
405725909	CV3381811	single nucleotide variant	NM_020433.5(JPH2):c.1802C>T (p.Thr601Ile)	Cardiovascular phenotype [RCV004524499]	uncertain significance	20	44115873	44115873	Human		name
405725915	CV3381812	single nucleotide variant	NM_020433.5(JPH2):c.1855C>G (p.Pro619Ala)	Cardiovascular phenotype [RCV004524500]	uncertain significance	20	44115820	44115820	Human		name
405854203	CV3392901	single nucleotide variant	NM_020433.5(JPH2):c.1972G>T (p.Ala658Ser)	Hypertrophic cardiomyopathy 17 [RCV005038699]\|not specified [RCV004527058]	uncertain significance	20	44115703	44115703	Human	1	name
407483473	CV3414315	single nucleotide variant	NM_020433.5(JPH2):c.1972G>C (p.Ala658Pro)	Hypertrophic cardiomyopathy 2 [RCV004596651]	not provided	20	44115703	44115703	Human		name
407467085	CV3448152	single nucleotide variant	NM_020433.5(JPH2):c.1399C>T (p.Arg467Cys)	Cardiovascular phenotype [RCV004635789]	likely benign	20	44116276	44116276	Human		name
407467093	CV3448156	single nucleotide variant	NM_020433.5(JPH2):c.1435C>T (p.Arg479Trp)	Cardiovascular phenotype [RCV004635793]	uncertain significance	20	44116240	44116240	Human		name
407467100	CV3448159	single nucleotide variant	NM_020433.5(JPH2):c.1958A>G (p.Lys653Arg)	Cardiovascular phenotype [RCV004635796]	likely benign	20	44115717	44115717	Human		name
407467105	CV3448161	single nucleotide variant	NM_020433.5(JPH2):c.1111G>A (p.Glu371Lys)	Cardiovascular phenotype [RCV004635798]	uncertain significance	20	44159676	44159676	Human		name
408389171	CV3522942	single nucleotide variant	NM_020433.5(JPH2):c.1793C>T (p.Ser598Phe)	Cardiovascular phenotype [RCV005406130]\|not provided [RCV004769323]	uncertain significance	20	44115882	44115882	Human		name
408393248	CV3528403	single nucleotide variant	NM_020433.5(JPH2):c.1886C>G (p.Pro629Arg)	not provided [RCV004776171]	uncertain significance	20	44115789	44115789	Human		name
408389141	CV3529238	single nucleotide variant	NM_020433.5(JPH2):c.1322A>G (p.Glu441Gly)	not provided [RCV004774060]	uncertain significance	20	44116353	44116353	Human		name
408389172	CV3529252	single nucleotide variant	NM_020433.5(JPH2):c.1784C>T (p.Ala595Val)	not provided [RCV004774074]	uncertain significance	20	44115891	44115891	Human		name
596931371	CV3531707	single nucleotide variant	NM_020433.5(JPH2):c.1616C>A (p.Ala539Asp)	not provided [RCV004781269]	uncertain significance	20	44116059	44116059	Human		name
596938907	CV3549889	single nucleotide variant	NM_020433.5(JPH2):c.1823C>G (p.Thr608Arg)	not provided [RCV004812930]	uncertain significance	20	44115852	44115852	Human		name
12742150	CV360468	single nucleotide variant	NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser)	Cardiovascular phenotype [RCV002356508]\|Hypertrophic cardiomyopathy [RCV000551721]\|not provided [RCV000412982]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	44118580	44118580	Human	2	name
597718231	CV3691391	single nucleotide variant	NM_020433.5(JPH2):c.1616C>T (p.Ala539Val)	Cardiovascular phenotype [RCV004991827]	uncertain significance	20	44116059	44116059	Human		name
597718254	CV3691398	single nucleotide variant	NM_020433.5(JPH2):c.1136T>C (p.Ile379Thr)	Cardiovascular phenotype [RCV004991833]	uncertain significance	20	44159651	44159651	Human		name
597718257	CV3691399	single nucleotide variant	NM_020433.5(JPH2):c.1783G>A (p.Ala595Thr)	Cardiovascular phenotype [RCV004991834]	likely benign	20	44115892	44115892	Human		name
597718275	CV3691404	single nucleotide variant	NM_020433.5(JPH2):c.1436G>A (p.Arg479Gln)	Cardiovascular phenotype [RCV004991839]	likely benign	20	44116239	44116239	Human		name
597718353	CV3691428	single nucleotide variant	NM_020433.5(JPH2):c.1126G>A (p.Ala376Thr)	Cardiovascular phenotype [RCV004991859]	uncertain significance	20	44159661	44159661	Human		name
597718359	CV3691431	single nucleotide variant	NM_020433.5(JPH2):c.1717A>T (p.Thr573Ser)	Cardiovascular phenotype [RCV004991861]	uncertain significance	20	44115958	44115958	Human		name
597718363	CV3691432	single nucleotide variant	NM_020433.5(JPH2):c.1594C>T (p.Arg532Cys)	Cardiovascular phenotype [RCV004991862]	uncertain significance	20	44116081	44116081	Human		name
597718376	CV3691435	single nucleotide variant	NM_020433.5(JPH2):c.1469C>T (p.Thr490Met)	Cardiovascular phenotype [RCV004991865]	uncertain significance	20	44116206	44116206	Human		name
597836014	CV3757605	single nucleotide variant	NM_020433.5(JPH2):c.1492A>G (p.Arg498Gly)	Hypertrophic cardiomyopathy [RCV005085619]	uncertain significance	20	44116183	44116183	Human	2	name
12832940	CV377016	single nucleotide variant	NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)	Cardiovascular phenotype [RCV002393064]\|Hypertrophic cardiomyopathy 17 [RCV002480329]\|Hypertrophic cardiomyopathy [RCV001343118]\|not provided [RCV000417542]	likely benign\|uncertain significance	20	44116242	44116242	Human	4	name
597874342	CV3775478	single nucleotide variant	NM_020433.5(JPH2):c.1694G>A (p.Gly565Asp)	Hypertrophic cardiomyopathy [RCV005123208]	uncertain significance	20	44115981	44115981	Human	2	name
597876828	CV3776054	single nucleotide variant	NM_020433.5(JPH2):c.1013A>C (p.Glu338Ala)	Hypertrophic cardiomyopathy [RCV005123581]	uncertain significance	20	44159774	44159774	Human	2	name
12842907	CV378237	single nucleotide variant	NM_020433.5(JPH2):c.1562G>A (p.Ser521Asn)	not provided [RCV000435255]	uncertain significance	20	44116113	44116113	Human		name
597891919	CV3785063	single nucleotide variant	NM_020433.5(JPH2):c.1699C>G (p.His567Asp)	Hypertrophic cardiomyopathy [RCV005125842]	uncertain significance	20	44115976	44115976	Human	2	name
597942262	CV3785980	single nucleotide variant	NM_020433.5(JPH2):c.1208A>G (p.Gln403Arg)	Hypertrophic cardiomyopathy [RCV005133873]	uncertain significance	20	44118585	44118585	Human	2	name
597954526	CV3786704	single nucleotide variant	NM_020433.5(JPH2):c.1255G>T (p.Ala419Ser)	Hypertrophic cardiomyopathy [RCV005121795]	uncertain significance	20	44118538	44118538	Human	2	name
597940421	CV3788978	single nucleotide variant	NM_020433.5(JPH2):c.1289G>A (p.Gly430Asp)	Hypertrophic cardiomyopathy [RCV005133441]	uncertain significance	20	44116386	44116386	Human	2	name
597877239	CV3825754	single nucleotide variant	NM_020433.5(JPH2):c.1426G>T (p.Glu476Ter)	Hypertrophic cardiomyopathy [RCV005177628]	uncertain significance	20	44116249	44116249	Human	2	name
597877610	CV3825814	single nucleotide variant	NM_020433.5(JPH2):c.1135A>G (p.Ile379Val)	Hypertrophic cardiomyopathy [RCV005177688]	uncertain significance	20	44159652	44159652	Human	2	name
597857190	CV3849864	single nucleotide variant	NM_020433.5(JPH2):c.1580C>G (p.Ser527Cys)	Hypertrophic cardiomyopathy [RCV005195373]	uncertain significance	20	44116095	44116095	Human	2	name
597865041	CV3861152	single nucleotide variant	NM_020433.5(JPH2):c.1507A>G (p.Lys503Glu)	Hypertrophic cardiomyopathy [RCV005196500]	uncertain significance	20	44116168	44116168	Human	2	name
598209033	CV3894829	single nucleotide variant	NM_020433.5(JPH2):c.1798G>A (p.Ala600Thr)	Hypertrophic cardiomyopathy 17 [RCV005358305]	uncertain significance	20	44115877	44115877	Human	1	name
8602223	CV39415	single nucleotide variant	NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	Cardiovascular phenotype [RCV000244391]\|Hypertrophic cardiomyopathy 17 [RCV000023411]\|Hypertrophic cardiomyopathy [RCV000205170]\|not provided [RCV001719698]\|not specified [RCV000082005]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44116162	44116162	Human	3	name
598212234	CV3969451	single nucleotide variant	NM_020433.5(JPH2):c.1282C>A (p.Gln428Lys)	Cardiovascular phenotype [RCV005358796]	uncertain significance	20	44118511	44118511	Human		name
598233725	CV3969453	single nucleotide variant	NM_020433.5(JPH2):c.1597C>G (p.Arg533Gly)	Cardiovascular phenotype [RCV005363399]	uncertain significance	20	44116078	44116078	Human		name
598233732	CV3969458	single nucleotide variant	NM_020433.5(JPH2):c.1607C>G (p.Ala536Gly)	Cardiovascular phenotype [RCV005363401]	uncertain significance	20	44116068	44116068	Human		name
598233736	CV3969459	single nucleotide variant	NM_020433.5(JPH2):c.2045T>C (p.Leu682Pro)	Cardiovascular phenotype [RCV005363402]	uncertain significance	20	44114842	44114842	Human		name
616936799	CV4010770	single nucleotide variant	NM_020433.5(JPH2):c.1693G>A (p.Gly565Ser)	Cardiovascular phenotype [RCV005404117]	uncertain significance	20	44115982	44115982	Human		name
617154102	CV4022265	single nucleotide variant	NM_020433.5(JPH2):c.1501G>A (p.Val501Met)	not provided [RCV005429621]	uncertain significance	20	44116174	44116174	Human		name
12885800	CV403624	single nucleotide variant	NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)	Cardiovascular phenotype [RCV002393074]\|Hypertrophic cardiomyopathy 17 [RCV004787705]\|Hypertrophic cardiomyopathy [RCV000466072]\|not provided [RCV001577972]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44116017	44116017	Human	3	name
12901846	CV410754	single nucleotide variant	NM_020433.5(JPH2):c.1078A>C (p.Asn360His)	Hypertrophic cardiomyopathy 17 [RCV000764236]\|Hypertrophic cardiomyopathy 17 [RCV003224295]\|Hypertrophic cardiomyopathy [RCV001856833]\|not provided [RCV000485700]	uncertain significance	20	44159709	44159709	Human	3	name
12906682	CV415682	single nucleotide variant	NM_020433.5(JPH2):c.1454C>T (p.Pro485Leu)	not provided [RCV000489517]	uncertain significance	20	44116221	44116221	Human		name
13212412	CV426337	single nucleotide variant	NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)	Cardiovascular phenotype [RCV000619678]\|Hypertrophic cardiomyopathy 17 [RCV005398719]\|Hypertrophic cardiomyopathy [RCV000696678]\|not provided [RCV000766783]\|not specified [RCV000498785]	likely benign\|uncertain significance	20	44115823	44115823	Human	4	name
13211817	CV426338	single nucleotide variant	NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)	Cardiovascular phenotype [RCV003159609]\|Hypertrophic cardiomyopathy 17 [RCV002496911]\|Hypertrophic cardiomyopathy [RCV001865569]\|not provided [RCV000497950]\|not specified [RCV005056082]	uncertain significance	20	44116383	44116383	Human	4	name
13477590	CV446237	single nucleotide variant	NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu)	Cardiovascular phenotype [RCV002404353]\|Hypertrophic cardiomyopathy [RCV003766976]\|not provided [RCV000520438]	uncertain significance	20	44115951	44115951	Human	2	name
13474657	CV446238	single nucleotide variant	NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys)	Cardiovascular phenotype [RCV002404344]\|Hypertrophic cardiomyopathy 17 [RCV003224306]\|Hypertrophic cardiomyopathy [RCV001219746]\|not provided [RCV000519704]	uncertain significance	20	44115961	44115961	Human	4	name
13480647	CV446239	single nucleotide variant	NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys)	Cardiovascular phenotype [RCV002395260]\|Hypertrophic cardiomyopathy [RCV001346944]\|not provided [RCV000521291]	likely benign\|uncertain significance	20	44116255	44116255	Human	2	name
13467331	CV470381	single nucleotide variant	NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)	Cardiovascular phenotype [RCV000618268]\|Hypertrophic cardiomyopathy 17 [RCV002490934]\|Hypertrophic cardiomyopathy [RCV000554201]\|not provided [RCV004691836]\|not specified [RCV003488655]	uncertain significance	20	44116281	44116281	Human	4	name
13465708	CV470385	single nucleotide variant	NM_020433.5(JPH2):c.1033G>C (p.Val345Leu)	Cardiovascular phenotype [RCV004023694]\|Hypertrophic cardiomyopathy 17 [RCV002497040]\|Hypertrophic cardiomyopathy [RCV000548161]\|not provided [RCV001551603]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	20	44159754	44159754	Human	4	name
13501030	CV470891	single nucleotide variant	NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys)	Cardiovascular phenotype [RCV002384031]\|Hypertrophic cardiomyopathy [RCV000539329]\|not provided [RCV000786324]	uncertain significance	20	44116369	44116369	Human	2	name
13500431	CV470900	single nucleotide variant	NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr)	Cardiovascular phenotype [RCV000617750]\|Hypertrophic cardiomyopathy 17 [RCV000612537]\|Hypertrophic cardiomyopathy [RCV000536836]\|not provided [RCV000786323]	uncertain significance	20	44118580	44118580	Human	3	name
13500656	CV471387	single nucleotide variant	NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser)	Cardiovascular phenotype [RCV000621129]\|Hypertrophic cardiomyopathy [RCV000537802]\|not provided [RCV001597155]	likely benign\|uncertain significance	20	44159772	44159772	Human	2	name
13530319	CV497335	single nucleotide variant	NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)	Cardiovascular phenotype [RCV002413691]\|Hypertrophic cardiomyopathy 17 [RCV002498888]\|Hypertrophic cardiomyopathy [RCV000799777]\|not provided [RCV003128636]\|not specified [RCV000606083]	likely benign\|uncertain significance	20	44115781	44115781	Human	4	name
13537731	CV507750	single nucleotide variant	NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg)	Cardiovascular phenotype [RCV002404666]\|Hypertrophic cardiomyopathy [RCV000983835]\|not provided [RCV001712663]	likely benign	20	44115904	44115904	Human	2	name
13533626	CV510827	single nucleotide variant	NM_020433.5(JPH2):c.1808C>T (p.Pro603Leu)	Cardiovascular phenotype [RCV000617815]\|Hypertrophic cardiomyopathy [RCV000868166]	likely benign	20	44115867	44115867	Human	2	name
13533504	CV510828	single nucleotide variant	NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly)	Cardiovascular phenotype [RCV000617645]	uncertain significance	20	44115876	44115876	Human		name
13528242	CV510830	single nucleotide variant	NM_020433.5(JPH2):c.1603C>T (p.Pro535Ser)	Cardiovascular phenotype [RCV000620620]	uncertain significance	20	44116072	44116072	Human		name
13528158	CV510831	single nucleotide variant	NM_020433.5(JPH2):c.1364G>A (p.Arg455Gln)	Cardiovascular phenotype [RCV000620564]	uncertain significance	20	44116311	44116311	Human		name
13609163	CV533607	single nucleotide variant	NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu)	Hypertrophic cardiomyopathy [RCV000628919]	uncertain significance	20	44115684	44115684	Human	2	name
13609075	CV533611	single nucleotide variant	NM_020433.5(JPH2):c.1175G>A (p.Ser392Asn)	Hypertrophic cardiomyopathy [RCV000628869]\|not provided [RCV001756036]	uncertain significance	20	44118618	44118618	Human	2	name
13609028	CV534099	single nucleotide variant	NM_020433.5(JPH2):c.1603C>A (p.Pro535Thr)	Hypertrophic cardiomyopathy [RCV000628840]	uncertain significance	20	44116072	44116072	Human	2	name
13609083	CV534104	single nucleotide variant	NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln)	Cardiovascular phenotype [RCV002404719]\|Hypertrophic cardiomyopathy [RCV000628871]\|not provided [RCV001591404]	uncertain significance	20	44116110	44116110	Human	2	name
13796082	CV551746	single nucleotide variant	NM_020433.5(JPH2):c.1888A>C (p.Lys630Gln)	Left ventricular hypertrophy [RCV000678709]	uncertain significance	20	44115787	44115787	Human	2	name
13804461	CV571236	single nucleotide variant	NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly)	Cardiovascular phenotype [RCV003163238]\|Hypertrophic cardiomyopathy [RCV000699623]	likely benign\|uncertain significance	20	44115897	44115897	Human	2	name
13807183	CV571238	single nucleotide variant	NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser)	Cardiovascular phenotype [RCV002369927]\|Hypertrophic cardiomyopathy [RCV000700938]	uncertain significance	20	44118526	44118526	Human	2	name
13816497	CV573503	single nucleotide variant	NM_020433.5(JPH2):c.1083G>T (p.Lys361Asn)	Cardiovascular phenotype [RCV004026717]\|Hypertrophic cardiomyopathy [RCV000706405]	uncertain significance	20	44159704	44159704	Human	2	name
13817532	CV575103	single nucleotide variant	NM_020433.5(JPH2):c.1936A>T (p.Thr646Ser)	Hypertrophic cardiomyopathy [RCV000693084]	uncertain significance	20	44115739	44115739	Human	2	name
13804950	CV575104	single nucleotide variant	NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp)	Cardiovascular phenotype [RCV002406530]\|Hypertrophic cardiomyopathy 17 [RCV005027843]\|Hypertrophic cardiomyopathy [RCV000685471]\|not provided [RCV005416391]	uncertain significance	20	44115885	44115885	Human	4	name
13812983	CV575105	single nucleotide variant	NM_020433.5(JPH2):c.1399C>G (p.Arg467Gly)	Cardiovascular phenotype [RCV004993952]\|Hypertrophic cardiomyopathy [RCV000689833]	uncertain significance	20	44116276	44116276	Human	2	name
14696462	CV623078	single nucleotide variant	NM_020433.5(JPH2):c.1568C>T (p.Ser523Leu)	not provided [RCV000786326]	uncertain significance	20	44116107	44116107	Human		name
14699571	CV624678	single nucleotide variant	NM_020433.5(JPH2):c.1690C>T (p.Gln564Ter)	Hypertrophic cardiomyopathy [RCV001873220]\|not provided [RCV000788981]	uncertain significance	20	44115985	44115985	Human	2	name
14699493	CV624679	single nucleotide variant	NM_020433.5(JPH2):c.1489C>T (p.Pro497Ser)	Hypertrophic cardiomyopathy [RCV005056551]\|not provided [RCV000788881]	uncertain significance	20	44116186	44116186	Human	2	name
14717918	CV648690	single nucleotide variant	NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)	Cardiovascular phenotype [RCV003362942]\|Hypertrophic cardiomyopathy 17 [RCV002493457]\|Hypertrophic cardiomyopathy [RCV000795628]\|not provided [RCV001574369]	uncertain significance	20	44115738	44115738	Human	4	name
14716046	CV648691	single nucleotide variant	NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu)	Cardiovascular phenotype [RCV002397669]\|Hypertrophic cardiomyopathy [RCV000811439]\|not provided [RCV005231373]	uncertain significance	20	44116050	44116050	Human	2	name
14741710	CV648692	single nucleotide variant	NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr)	Cardiovascular phenotype [RCV003166255]\|Hypertrophic cardiomyopathy [RCV000805938]\|not provided [RCV003320756]	uncertain significance	20	44118613	44118613	Human	2	name
14737804	CV648693	single nucleotide variant	NM_020433.5(JPH2):c.1106G>C (p.Ser369Thr)	Hypertrophic cardiomyopathy [RCV000804229]	uncertain significance	20	44159681	44159681	Human	2	name
14975404	CV672455	single nucleotide variant	NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)	Cardiovascular phenotype [RCV004994067]\|Hypertrophic cardiomyopathy 17 [RCV002478942]\|Hypertrophic cardiomyopathy [RCV003748287]\|not provided [RCV000845391]	uncertain significance	20	44115700	44115700	Human	4	name
26904184	CV848401	single nucleotide variant	NM_020433.5(JPH2):c.1991C>T (p.Ala664Val)	Cardiovascular phenotype [RCV003160414]\|Hypertrophic cardiomyopathy [RCV001052663]	likely benign\|uncertain significance	20	44115684	44115684	Human	2	name
26904492	CV848402	single nucleotide variant	NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)	Cardiovascular phenotype [RCV002416402]\|Hypertrophic cardiomyopathy 17 [RCV002481988]\|Hypertrophic cardiomyopathy [RCV001054449]	uncertain significance	20	44115711	44115711	Human	4	name
26906110	CV848403	single nucleotide variant	NM_020433.5(JPH2):c.1961C>T (p.Ala654Val)	Hypertrophic cardiomyopathy [RCV001061354]	uncertain significance	20	44115714	44115714	Human	2	name
26905014	CV848404	single nucleotide variant	NM_020433.5(JPH2):c.1838A>G (p.Glu613Gly)	Cardiovascular phenotype [RCV004031794]\|Hypertrophic cardiomyopathy [RCV001056925]	uncertain significance	20	44115837	44115837	Human	2	name
26907624	CV848406	single nucleotide variant	NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter)	Cardiovascular phenotype [RCV002393336]\|Hypertrophic cardiomyopathy [RCV001070278]	uncertain significance	20	44116198	44116198	Human	2	name
26906603	CV848407	single nucleotide variant	NM_020433.5(JPH2):c.1220C>A (p.Ala407Asp)	Hypertrophic cardiomyopathy [RCV001064302]	uncertain significance	20	44118573	44118573	Human	2	name
38480028	CV929191	single nucleotide variant	NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys)	Cardiovascular phenotype [RCV002411803]\|Hypertrophic cardiomyopathy [RCV001217358]	uncertain significance	20	44115852	44115852	Human	2	name
38482062	CV929192	single nucleotide variant	NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter)	Hypertrophic cardiomyopathy 17 [RCV002497744]\|Hypertrophic cardiomyopathy [RCV001218294]	uncertain significance	20	44116030	44116030	Human	3	name
38482827	CV929193	single nucleotide variant	NM_020433.5(JPH2):c.1123C>T (p.Arg375Cys)	Hypertrophic cardiomyopathy [RCV001218650]	uncertain significance	20	44159664	44159664	Human	2	name
38486764	CV938980	single nucleotide variant	NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr)	Cardiovascular phenotype [RCV002418706]\|Hypertrophic cardiomyopathy [RCV001209032]\|not provided [RCV002280168]	uncertain significance	20	44114825	44114825	Human	2	name
38489699	CV938982	single nucleotide variant	NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)	Cardiovascular phenotype [RCV003363164]\|Hypertrophic cardiomyopathy 17 [RCV002484140]\|Hypertrophic cardiomyopathy [RCV001210311]	uncertain significance	20	44115808	44115808	Human	4	name
38485587	CV938983	single nucleotide variant	NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)	Cardiovascular phenotype [RCV002393469]\|Hypertrophic cardiomyopathy 17 [RCV002504244]\|Hypertrophic cardiomyopathy [RCV001208542]\|not provided [RCV004774300]	uncertain significance	20	44116239	44116239	Human	4	name
38475742	CV951096	single nucleotide variant	NM_020433.5(JPH2):c.1901G>A (p.Arg634Lys)	Hypertrophic cardiomyopathy [RCV001232763]	uncertain significance	20	44115774	44115774	Human	2	name
38496918	CV951097	single nucleotide variant	NM_020433.5(JPH2):c.1879A>G (p.Ile627Val)	Hypertrophic cardiomyopathy [RCV001226743]	uncertain significance	20	44115796	44115796	Human	2	name
38471983	CV951098	single nucleotide variant	NM_020433.5(JPH2):c.1787C>T (p.Pro596Leu)	Cardiovascular phenotype [RCV004033123]\|Hypertrophic cardiomyopathy [RCV001231361]	uncertain significance	20	44115888	44115888	Human	2	name
38496664	CV951099	single nucleotide variant	NM_020433.5(JPH2):c.1271C>T (p.Pro424Leu)	Hypertrophic cardiomyopathy [RCV001226543]\|not provided [RCV001773512]	uncertain significance	20	44118522	44118522	Human	2	name
42723096	CV966844	single nucleotide variant	NM_020433.5(JPH2):c.1141C>T (p.Arg381Cys)	Cardiovascular phenotype [RCV004035375]\|Hypertrophic cardiomyopathy [RCV001293109]\|not provided [RCV004762027]	uncertain significance	20	44159646	44159646	Human	2	name
126758673	CV999009	single nucleotide variant	NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr)	Cardiovascular phenotype [RCV002402831]\|Hypertrophic cardiomyopathy 17 [RCV002499551]\|Hypertrophic cardiomyopathy [RCV001299261]	uncertain significance	20	44115943	44115943	Human	4	name
126750166	CV999010	single nucleotide variant	NM_020433.5(JPH2):c.1718C>T (p.Thr573Ile)	Hypertrophic cardiomyopathy [RCV001306786]	uncertain significance	20	44115957	44115957	Human	2	name
126757790	CV999011	single nucleotide variant	NM_020433.5(JPH2):c.1552G>T (p.Gly518Cys)	Hypertrophic cardiomyopathy [RCV001308526]	uncertain significance	20	44116123	44116123	Human	2	name
126754361	CV999012	single nucleotide variant	NM_020433.5(JPH2):c.1235C>G (p.Ser412Cys)	Cardiovascular phenotype [RCV004034131]\|Hypertrophic cardiomyopathy [RCV001307614]	uncertain significance	20	44118558	44118558	Human	2	name
408389791	CV3524732	microsatellite	NM_020433.5(JPH2):c.856ACC[2] (p.Thr288del)	not provided [RCV004769627]	uncertain significance	20	44159923	44159925	Human		name
151840185	CV1345812	deletion	NM_020433.5(JPH2):c.349_351del (p.Gly117del)	Cardiovascular phenotype [RCV002458725]\|Hypertrophic cardiomyopathy [RCV001902743]	uncertain significance	20	44186355	44186357	Human	2	name
12913327	CV422319	microsatellite	NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)	Cardiovascular phenotype [RCV002420261]\|Hypertrophic cardiomyopathy 17 [RCV002481570]\|Hypertrophic cardiomyopathy [RCV002527102]\|not provided [RCV000493687]	uncertain significance	20	44115716	44115718	Human		name
38465169	CV938981	microsatellite	NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del)	Hypertrophic cardiomyopathy [RCV001212604]	uncertain significance	20	44114838	44114840	Human		name
155642650	CV1706344	microsatellite	NM_020433.5(JPH2):c.2070_2071del (p.Phe691fs)	Cardiomyopathy, dilated, 2E [RCV002287200]	uncertain significance	20	44114816	44114817	Human		name
155684401	CV1840389	deletion	NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)	Cardiovascular phenotype [RCV002423904]	uncertain significance	20	44114803	44114804	Human		name
155982358	CV2070181	deletion	NM_020433.5(JPH2):c.1180_1181del (p.Ala394fs)	Hypertrophic cardiomyopathy [RCV002842583]	uncertain significance	20	44118612	44118613	Human	2	name
150447279	CV1274454	microsatellite	NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3])	not provided [RCV001699678]	uncertain significance	20	44115668	44115669	Human		name
156447379	CV1945026	microsatellite	NM_020433.5(JPH2):c.1753CCCGAG[1] (p.585PE[1])	Hypertrophic cardiomyopathy [RCV003118907]	uncertain significance	20	44115911	44115916	Human		name
156202577	CV2034803	inversion	NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)	Cardiomyopathy, dilated, 2E [RCV004763458]\|Cardiovascular phenotype [RCV003167714]\|Hypertrophic cardiomyopathy [RCV002766295]	uncertain significance	20	44114813	44114814	Human		name
151728126	CV1425365	indel	NM_020433.5(JPH2):c.650_651delinsCT (p.Gly217Ala)	Hypertrophic cardiomyopathy [RCV001945764]	uncertain significance	20	44160136	44160137	Human		name
405251455	CV3030822	indel	NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)	Hypertrophic cardiomyopathy [RCV003747970]	uncertain significance	20	44159811	44159812	Human		name
405251809	CV3037147	indel	NM_020433.5(JPH2):c.601_602delinsTT (p.Ala201Leu)	Hypertrophic cardiomyopathy [RCV003748116]	uncertain significance	20	44160185	44160186	Human		name
598124484	CV3883561	indel	NM_020433.5(JPH2):c.640_641delinsTT (p.Ala214Leu)	not provided [RCV005235915]	uncertain significance	20	44160146	44160147	Human		name
150556676	CV1305600	indel	NM_020433.5(JPH2):c.1414_1415delinsGG (p.Leu472Gly)	not provided [RCV001774589]	uncertain significance	20	44116260	44116261	Human		name
151868131	CV1493907	deletion	NM_020433.5(JPH2):c.810_830del (p.Glu271_Ala277del)	Hypertrophic cardiomyopathy [RCV001960080]	uncertain significance	20	44159957	44159977	Human	2	name
10450217	CV215589	duplication	NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup)	Cardiovascular phenotype [RCV005404386]\|Hypertrophic cardiomyopathy [RCV001853272]\|not specified [RCV000202687]	uncertain significance	20	44160270	44160271	Human	2	name
597718344	CV3691426	deletion	NM_020433.5(JPH2):c.625_645del (p.Glu209_Pro215del)	Cardiovascular phenotype [RCV004991857]	uncertain significance	20	44160142	44160162	Human		name
12888191	CV404168	indel	NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr)	Cardiovascular phenotype [RCV002329088]\|Hypertrophic cardiomyopathy [RCV001515617]\|not provided [RCV000470437]	benign	20	44118607	44118608	Human		name
151726611	CV1387201	deletion	NM_020433.5(JPH2):c.1359_1388del (p.Asp454_Pro463del)	Hypertrophic cardiomyopathy [RCV001910417]	uncertain significance	20	44116287	44116316	Human	2	name
151810442	CV1417351	duplication	NM_020433.5(JPH2):c.1792_1797dup (p.Ser598_Pro599dup)	Hypertrophic cardiomyopathy [RCV002028921]	uncertain significance	20	44115877	44115878	Human	2	name
155676140	CV1796055	deletion	NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)	Cardiovascular phenotype [RCV002455128]\|Hypertrophic cardiomyopathy [RCV003748379]	uncertain significance	20	44159631	44159639	Human	2	name
598258842	CV3969455	deletion	NM_020433.5(JPH2):c.1780_1839del (p.Ser594_Glu613del)	Cardiovascular phenotype [RCV005347288]	uncertain significance	20	44115836	44115895	Human		name
12889494	CV403623	duplication	NM_020433.5(JPH2):c.1948_1965dup (p.Ala650_Arg655dup)	Hypertrophic cardiomyopathy [RCV000472850]	uncertain significance	20	44115709	44115710	Human	2	name
26902045	CV848405	duplication	NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)	Cardiovascular phenotype [RCV002409410]\|Hypertrophic cardiomyopathy [RCV001045644]\|JPH2-related disorder [RCV003396651]\|not provided [RCV003128738]	uncertain significance	20	44115895	44115896	Human	3	name , trait , alternate_id
155687340	CV1803600	duplication	NM_020433.5(JPH2):c.591_593dup (p.Gly199_Phe200insGly)	Cardiovascular phenotype [RCV002355753]	uncertain significance	20	44160193	44160194	Human		name
155703539	CV1838466	duplication	NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)	Cardiovascular phenotype [RCV002401840]\|Hypertrophic cardiomyopathy [RCV005058692]	uncertain significance	20	44115897	44115898	Human	2	name
156136655	CV2085895	duplication	NM_020433.5(JPH2):c.1747_1752dup (p.Gln584_Pro585insAspGln)	Hypertrophic cardiomyopathy [RCV002871833]	uncertain significance	20	44115922	44115923	Human	2	name

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