Dnajb6 Variant Search Result - Rat Genome Database

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471 records found for search term Dnajb6

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11640445	CV266356	single nucleotide variant	NM_058246.4(DNAJB6):c.*3C>T	not provided [RCV000339060]	uncertain significance	7	157416101	157416101	Human		name
11636850	CV270817	single nucleotide variant	NM_058246.4(DNAJB6):c.-8C>T	not provided [RCV000275934]	uncertain significance	7	157358565	157358565	Human		name
11637540	CV273215	single nucleotide variant	NM_058246.4(DNAJB6):c.-7G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160313]\|not provided [RCV000287672]	uncertain significance	7	157358566	157358566	Human	2	name , trait
13809274	CV576962	single nucleotide variant	NM_058246.4(DNAJB6):c.-8C>G	not provided [RCV000711474]	uncertain significance	7	157358565	157358565	Human		name
11651707	CV302296	single nucleotide variant	NM_058246.4(DNAJB6):c.-93G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000300394]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000397794]	uncertain significance	7	157337078	157337078	Human	3	name , trait
11584024	CV302297	single nucleotide variant	NM_058246.4(DNAJB6):c.-43G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000325775]\|Myofibrillar Myopathy, Dominant [RCV000270755]	benign\|likely benign	7	157337128	157337128	Human	3	name , trait
11587078	CV302318	single nucleotide variant	NM_058246.4(DNAJB6):c.*72C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000292650]\|Myofibrillar Myopathy, Dominant [RCV000386886]\|not provided [RCV001576539]	benign\|likely benign	7	157416170	157416170	Human	3	name , trait
11601430	CV305508	single nucleotide variant	NM_058246.4(DNAJB6):c.*64C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000282071]\|Myofibrillar Myopathy, Dominant [RCV000337156]	uncertain significance	7	157416162	157416162	Human	3	name , trait
11608106	CV305522	single nucleotide variant	NM_058246.4(DNAJB6):c.*88G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000404922]\|Myofibrillar Myopathy, Dominant [RCV000351207]\|not provided [RCV004707171]	benign\|likely benign	7	157416186	157416186	Human	3	name , trait
11600548	CV310338	single nucleotide variant	NM_058246.4(DNAJB6):c.-86G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000274613]\|Myofibrillar Myopathy, Dominant [RCV000355329]\|not provided [RCV001786385]	benign\|likely benign	7	157337085	157337085	Human	3	name , trait
11606644	CV310339	single nucleotide variant	NM_058246.4(DNAJB6):c.-85G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000370185]\|Myofibrillar Myopathy, Dominant [RCV000334134]	benign\|uncertain significance	7	157337086	157337086	Human	3	name , trait
12839103	CV369702	single nucleotide variant	NM_058246.4(DNAJB6):c.*17G>A	not specified [RCV000428201]	likely benign	7	157416115	157416115	Human		name
28908873	CV897736	single nucleotide variant	NM_058246.4(DNAJB6):c.-77G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160311]	uncertain significance	7	157337094	157337094	Human	2	name , trait
28908874	CV897737	single nucleotide variant	NM_058246.4(DNAJB6):c.-63C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160312]\|not provided [RCV002249744]	benign\|likely benign	7	157337108	157337108	Human	2	name , trait
28909115	CV897742	single nucleotide variant	NM_058246.4(DNAJB6):c.*72C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160428]	uncertain significance	7	157416170	157416170	Human	2	name , trait
28909118	CV897743	single nucleotide variant	NM_058246.4(DNAJB6):c.*98A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160429]	uncertain significance	7	157416196	157416196	Human	2	name , trait
152174101	CV1622060	single nucleotide variant	NM_058246.4(DNAJB6):c.66-9C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002184392]	likely benign	7	157363152	157363152	Human	2	name , trait
153305258	CV1687648	single nucleotide variant	NM_058246.4(DNAJB6):c.*922C>T	not provided [RCV002263469]	benign	7	157417020	157417020	Human		name
155803922	CV1858490	single nucleotide variant	NM_058246.4(DNAJB6):c.66-2A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005058868]\|not provided [RCV002462800]	uncertain significance	7	157363159	157363159	Human	2	name , trait
156056100	CV2064856	single nucleotide variant	NM_058246.4(DNAJB6):c.65+9T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002846602]	likely benign	7	157358646	157358646	Human	2	name , trait
11652741	CV302320	single nucleotide variant	NM_058246.4(DNAJB6):c.*118G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000347802]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000306905]	uncertain significance	7	157416216	157416216	Human	3	name , trait
11652152	CV302323	single nucleotide variant	NM_058246.4(DNAJB6):c.*289C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000303096]\|Myofibrillar Myopathy, Dominant [RCV000403968]	uncertain significance	7	157416387	157416387	Human	3	name , trait
11583600	CV302325	single nucleotide variant	NM_058246.4(DNAJB6):c.*306C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000357845]\|Myofibrillar Myopathy, Dominant [RCV000267793]	benign\|uncertain significance	7	157416404	157416404	Human	3	name , trait
11587920	CV302328	single nucleotide variant	NM_058246.4(DNAJB6):c.*639A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000298638]\|Myofibrillar Myopathy, Dominant [RCV000402788]	benign\|likely benign	7	157416737	157416737	Human	3	name , trait
11593928	CV302331	single nucleotide variant	NM_058246.4(DNAJB6):c.*699T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000394079]\|Myofibrillar Myopathy, Dominant [RCV000353547]\|not provided [RCV004712390]	benign	7	157416797	157416797	Human	3	name , trait
11586037	CV302334	single nucleotide variant	NM_058246.4(DNAJB6):c.*902C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000285238]\|Myofibrillar Myopathy, Dominant [RCV000379608]	benign\|likely benign	7	157417000	157417000	Human	3	name , trait
11603891	CV305526	single nucleotide variant	NM_058246.4(DNAJB6):c.*382G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000354327]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000304143]	benign\|likely benign	7	157416480	157416480	Human	3	name , trait
11598729	CV305535	single nucleotide variant	NM_058246.4(DNAJB6):c.*489T>C	Limb-Girdle Muscular Dystrophy, Dominant [RCV000259461]\|Myofibrillar Myopathy, Dominant [RCV000319316]	likely benign	7	157416587	157416587	Human	2	name
11602574	CV305543	single nucleotide variant	NM_058246.4(DNAJB6):c.*604C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000291865]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000381587]	benign\|likely benign	7	157416702	157416702	Human	3	name , trait
11648857	CV305551	single nucleotide variant	NM_058246.4(DNAJB6):c.*610C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000283865]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000343487]\|not provided [RCV003311781]	likely benign\|uncertain significance	7	157416708	157416708	Human	3	name , trait
11601660	CV305553	single nucleotide variant	NM_058246.4(DNAJB6):c.*787G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000283918]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000320295]	benign\|likely benign	7	157416885	157416885	Human	3	name , trait
11650885	CV310342	single nucleotide variant	NM_058246.4(DNAJB6):c.*586T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000327006]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000295487]	uncertain significance	7	157416684	157416684	Human	3	name , trait
11607718	CV310348	single nucleotide variant	NM_058246.4(DNAJB6):c.*606A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000404955]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000346997]	uncertain significance	7	157416704	157416704	Human	3	name , trait
11600499	CV310367	single nucleotide variant	NM_058246.4(DNAJB6):c.*759C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000334022]\|Myofibrillar Myopathy, Dominant [RCV000274206]\|not provided [RCV004712391]	benign	7	157416857	157416857	Human	3	name , trait
11656713	CV310369	single nucleotide variant	NM_058246.4(DNAJB6):c.*934C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000406773]\|Myofibrillar Myopathy, Dominant [RCV000335829]\|not provided [RCV003311782]	likely benign\|uncertain significance	7	157417032	157417032	Human	3	name , trait
11652308	CV310440	single nucleotide variant	NM_058246.4(DNAJB6):c.-108C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000354260]\|Myofibrillar Myopathy, Dominant [RCV000304043]	uncertain significance	7	157337063	157337063	Human	3	name , trait
11600543	CV310468	single nucleotide variant	NM_058246.4(DNAJB6):c.*514G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000274545]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000355270]\|not provided [RCV002222494]	benign\|likely benign	7	157416612	157416612	Human	3	name , trait
11655957	CV310470	single nucleotide variant	NM_058246.4(DNAJB6):c.*528C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000329658]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000388919]	uncertain significance	7	157416626	157416626	Human	3	name , trait
11603468	CV310473	single nucleotide variant	NM_058246.4(DNAJB6):c.*726A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000368896]\|Myofibrillar Myopathy, Dominant [RCV000300189]	benign	7	157416824	157416824	Human	3	name , trait
11599841	CV310479	single nucleotide variant	NM_058246.4(DNAJB6):c.*776C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000363492]\|Myofibrillar Myopathy, Dominant [RCV000268800]	benign\|likely benign	7	157416874	157416874	Human	3	name , trait
11655808	CV310480	single nucleotide variant	NM_058246.4(DNAJB6):c.*781C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000383220]\|Myofibrillar Myopathy, Dominant [RCV000328651]	uncertain significance	7	157416879	157416879	Human	3	name , trait
11601390	CV310481	single nucleotide variant	NM_058246.4(DNAJB6):c.*966C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000336923]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000281863]\|not provided [RCV004705433]	benign\|likely benign	7	157417064	157417064	Human	3	name , trait
13621167	CV523163	single nucleotide variant	NM_058246.4(DNAJB6):c.65+2T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000648066]	uncertain significance	7	157358639	157358639	Human	2	name , trait
13812981	CV566632	single nucleotide variant	NM_058246.4(DNAJB6):c.66-5C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000689831]	likely benign\|uncertain significance	7	157363156	157363156	Human	2	name , trait
28909121	CV897744	single nucleotide variant	NM_058246.4(DNAJB6):c.*105C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160430]	uncertain significance	7	157416203	157416203	Human	2	name , trait
28867733	CV897745	single nucleotide variant	NM_058246.4(DNAJB6):c.*215C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001162060]	uncertain significance	7	157416313	157416313	Human	2	name , trait
28867734	CV897746	single nucleotide variant	NM_058246.4(DNAJB6):c.*243T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001162061]	uncertain significance	7	157416341	157416341	Human	2	name , trait
28867736	CV897747	single nucleotide variant	NM_058246.4(DNAJB6):c.*299A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001162062]	uncertain significance	7	157416397	157416397	Human	2	name , trait
28867738	CV897748	single nucleotide variant	NM_058246.4(DNAJB6):c.*307G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001162063]	uncertain significance	7	157416405	157416405	Human	2	name , trait
28871699	CV897749	single nucleotide variant	NM_058246.4(DNAJB6):c.*502A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001164079]	uncertain significance	7	157416600	157416600	Human	2	name , trait
28871702	CV897750	single nucleotide variant	NM_058246.4(DNAJB6):c.*513C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001164080]	uncertain significance	7	157416611	157416611	Human	2	name , trait
28906829	CV897751	single nucleotide variant	NM_058246.4(DNAJB6):c.*636T>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001159175]	uncertain significance	7	157416734	157416734	Human	2	name , trait
28906831	CV897752	single nucleotide variant	NM_058246.4(DNAJB6):c.*664A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001159176]	uncertain significance	7	157416762	157416762	Human	2	name , trait
28909303	CV897753	single nucleotide variant	NM_058246.4(DNAJB6):c.*923G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160533]	benign	7	157417021	157417021	Human	2	name , trait
28909306	CV897754	single nucleotide variant	NM_058246.4(DNAJB6):c.*965T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001160534]	uncertain significance	7	157417063	157417063	Human	2	name , trait
38482318	CV959844	single nucleotide variant	NM_058246.4(DNAJB6):c.66-3A>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001235438]	uncertain significance	7	157363158	157363158	Human	2	name , trait
126762914	CV1007371	single nucleotide variant	NM_058246.4(DNAJB6):c.621-7C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001319075]	likely benign\|uncertain significance	7	157385534	157385534	Human	2	name , trait
127250452	CV1074579	deletion	NM_058246.4(DNAJB6):c.235+9del	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001417591]	likely benign	7	157366570	157366570	Human	2	name , trait
127262687	CV1096201	single nucleotide variant	NM_058246.4(DNAJB6):c.899-5C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001428399]	likely benign	7	157416011	157416011	Human	2	name , trait
150456184	CV1219317	single nucleotide variant	NM_058246.4(DNAJB6):c.65+45A>G	not provided [RCV001612664]	benign	7	157358682	157358682	Human		name
151882088	CV1484459	single nucleotide variant	NM_058246.4(DNAJB6):c.692-6C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001941214]	likely benign\|uncertain significance	7	157409789	157409789	Human	2	name , trait
152097236	CV1566211	single nucleotide variant	NM_058246.4(DNAJB6):c.235+9G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002095012]	likely benign	7	157366570	157366570	Human	2	name , trait
152138444	CV1572273	single nucleotide variant	NM_058246.4(DNAJB6):c.691+8G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002219045]	likely benign	7	157385619	157385619	Human	2	name , trait
152092970	CV1603109	single nucleotide variant	NM_058246.4(DNAJB6):c.65+17C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002194535]	likely benign	7	157358654	157358654	Human	2	name , trait
152160253	CV1651933	single nucleotide variant	NM_058246.4(DNAJB6):c.66-12A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002180808]	likely benign	7	157363149	157363149	Human	2	name , trait
156062671	CV1931128	single nucleotide variant	NM_058246.4(DNAJB6):c.478+5T>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002638339]	uncertain significance	7	157382382	157382382	Human	2	name , trait
156234996	CV2081713	deletion	NM_058246.4(DNAJB6):c.65+12del	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002876383]	benign	7	157358646	157358646	Human	2	name , trait
156016990	CV2121456	single nucleotide variant	NM_058246.4(DNAJB6):c.691+9C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002948584]	likely benign	7	157385620	157385620	Human	2	name , trait
156054665	CV2165488	single nucleotide variant	NM_058246.4(DNAJB6):c.236-9T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003019515]	likely benign	7	157367364	157367364	Human	2	name , trait
11075201	CV227092	single nucleotide variant	NM_058246.4(DNAJB6):c.346+5G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000210843]	pathogenic	7	157367488	157367488	Human	2	name , trait
11088145	CV229569	single nucleotide variant	NM_058246.4(DNAJB6):c.899-6C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001082251]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000265184]\|not provided [RCV000711473]\|not specified [RCV000213214]	benign\|likely benign	7	157416010	157416010	Human	3	name , trait
243057957	CV2412216	single nucleotide variant	NM_058246.4(DNAJB6):c.236-3C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146758]	conflicting interpretations of pathogenicity\|uncertain significance	7	157367370	157367370	Human	2	name , trait
243057961	CV2412218	single nucleotide variant	NM_058246.4(DNAJB6):c.236-1G>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146760]	uncertain significance	7	157367372	157367372	Human	2	name , trait
11545498	CV252658	single nucleotide variant	NM_058246.4(DNAJB6):c.-26-7C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000385262]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000272144]\|not provided [RCV004712221]\|not specified [RCV000245218]	benign	7	157358540	157358540	Human	3	name , trait
11640743	CV267943	single nucleotide variant	NM_058246.4(DNAJB6):c.235+9G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001439085]\|not provided [RCV000344313]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157366570	157366570	Human	2	name , trait
11639817	CV275409	single nucleotide variant	NM_058246.4(DNAJB6):c.620+9G>A	not provided [RCV000326495]	uncertain significance	7	157385017	157385017	Human		name
11653533	CV305555	single nucleotide variant	NM_058246.4(DNAJB6):c.*1236G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000404579]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000311352]	uncertain significance	7	157417334	157417334	Human	3	name , trait
405176767	CV3070261	single nucleotide variant	NM_058246.4(DNAJB6):c.66-16C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639194]	likely benign	7	157363145	157363145	Human	2	name , trait
12839817	CV369101	single nucleotide variant	NM_058246.4(DNAJB6):c.235+8C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003638664]\|not specified [RCV000429537]	likely benign	7	157366569	157366569	Human	2	name , trait
597923640	CV3777889	single nucleotide variant	NM_058246.4(DNAJB6):c.898+1G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005130613]	uncertain significance	7	157410002	157410002	Human	2	name , trait
597861883	CV3822571	duplication	NM_058246.4(DNAJB6):c.621-8dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005175101]	benign	7	157385526	157385527	Human	2	name , trait
597839072	CV3824887	single nucleotide variant	NM_058246.4(DNAJB6):c.621-6C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005171751]	likely benign	7	157385535	157385535	Human	2	name , trait
597893001	CV3833367	single nucleotide variant	NM_058246.4(DNAJB6):c.175+9C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005180059]	likely benign	7	157363279	157363279	Human	2	name , trait
597866601	CV3834483	single nucleotide variant	NM_058246.4(DNAJB6):c.692-8G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005175850]	likely benign	7	157409787	157409787	Human	2	name , trait
13479948	CV441072	single nucleotide variant	NM_058246.4(DNAJB6):c.479-5T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001458838]\|not specified [RCV000517133]	likely benign\|uncertain significance	7	157384862	157384862	Human	2	name , trait
13494666	CV456511	single nucleotide variant	NM_058246.4(DNAJB6):c.620+6G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000559072]	uncertain significance	7	157385014	157385014	Human	2	name , trait
13515252	CV492209	single nucleotide variant	NM_058246.4(DNAJB6):c.621-4A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003767390]\|not provided [RCV000594049]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157385537	157385537	Human	2	name , trait
14737711	CV662921	single nucleotide variant	NM_058246.4(DNAJB6):c.66-79G>C	not provided [RCV000839045]	likely benign	7	157363082	157363082	Human		name
15184048	CV777680	single nucleotide variant	NM_058246.4(DNAJB6):c.692-6C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001477276]	likely benign	7	157409789	157409789	Human	2	name , trait
28867897	CV897755	single nucleotide variant	NM_058246.4(DNAJB6):c.*1008G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001162152]	uncertain significance	7	157417106	157417106	Human	2	name , trait
127279875	CV1074581	single nucleotide variant	NM_058246.4(DNAJB6):c.898+10G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001409380]	likely benign	7	157410011	157410011	Human	2	name , trait
150333266	CV1169232	single nucleotide variant	NM_058246.4(DNAJB6):c.-26-55C>T	not provided [RCV001537242]	likely benign	7	157358492	157358492	Human		name
150404665	CV1193917	single nucleotide variant	NM_058246.4(DNAJB6):c.175+60G>A	not provided [RCV001571280]	likely benign	7	157363330	157363330	Human		name
150450386	CV1205267	single nucleotide variant	NM_058246.4(DNAJB6):c.176-50T>C	not provided [RCV001585167]	likely benign	7	157366452	157366452	Human		name
150480683	CV1208065	single nucleotide variant	NM_058246.4(DNAJB6):c.235+65A>T	not provided [RCV001590342]	likely benign	7	157366626	157366626	Human		name
150499482	CV1209089	single nucleotide variant	NM_058246.4(DNAJB6):c.478+64T>A	not provided [RCV001594307]	likely benign	7	157382441	157382441	Human		name
150442762	CV1264488	single nucleotide variant	NM_058246.4(DNAJB6):c.236-24A>G	not provided [RCV001679471]	benign	7	157367349	157367349	Human		name
151740752	CV1451899	single nucleotide variant	NM_058246.4(DNAJB6):c.692-16C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002022305]	likely benign	7	157409779	157409779	Human	2	name , trait
152118860	CV1593555	single nucleotide variant	NM_058246.4(DNAJB6):c.899-12G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002097874]	likely benign	7	157416004	157416004	Human	2	name , trait
152084931	CV1617161	single nucleotide variant	NM_058246.4(DNAJB6):c.898+20C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002076859]	likely benign	7	157410021	157410021	Human	2	name , trait
152041658	CV1617920	single nucleotide variant	NM_058246.4(DNAJB6):c.620+18A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002206423]	benign	7	157385026	157385026	Human	2	name , trait
152155369	CV1620365	single nucleotide variant	NM_058246.4(DNAJB6):c.176-11T>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002122340]	likely benign	7	157366491	157366491	Human	2	name , trait
152056214	CV1649450	single nucleotide variant	NM_058246.4(DNAJB6):c.691+19G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002127808]\|not provided [RCV004706392]	likely benign	7	157385630	157385630	Human	2	name , trait
152166218	CV1661197	single nucleotide variant	NM_058246.4(DNAJB6):c.621-18T>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002124181]	likely benign	7	157385523	157385523	Human	2	name , trait
156400422	CV1897561	single nucleotide variant	NM_058246.4(DNAJB6):c.478+12C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002584814]	likely benign\|uncertain significance	7	157382389	157382389	Human	2	name , trait
156413202	CV1904775	single nucleotide variant	NM_058246.4(DNAJB6):c.235+18T>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002588085]	likely benign	7	157366579	157366579	Human	2	name , trait
156286812	CV1929781	single nucleotide variant	NM_058246.4(DNAJB6):c.235+20C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002628648]	likely benign	7	157366581	157366581	Human	2	name , trait
156127020	CV1930701	single nucleotide variant	NM_058246.4(DNAJB6):c.621-16A>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002640557]	likely benign	7	157385525	157385525	Human	2	name , trait
156313737	CV1931374	single nucleotide variant	NM_058246.4(DNAJB6):c.347-17T>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002629930]	likely benign\|uncertain significance	7	157382229	157382229	Human	2	name , trait
155909348	CV1980016	single nucleotide variant	NM_058246.4(DNAJB6):c.898+17A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002613874]	likely benign	7	157410018	157410018	Human	2	name , trait
156402802	CV1988709	single nucleotide variant	NM_058246.4(DNAJB6):c.898+15G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002605772]	likely benign	7	157410016	157410016	Human	2	name , trait
156284395	CV2001601	single nucleotide variant	NM_058246.4(DNAJB6):c.692-14C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002646954]	likely benign	7	157409781	157409781	Human	2	name , trait
156325103	CV2097505	single nucleotide variant	NM_058246.4(DNAJB6):c.691+18C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002899575]	likely benign	7	157385629	157385629	Human	2	name , trait
155995198	CV2109238	single nucleotide variant	NM_058246.4(DNAJB6):c.620+16G>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002947524]	likely benign	7	157385024	157385024	Human	2	name , trait
156350608	CV2122176	single nucleotide variant	NM_058246.4(DNAJB6):c.692-13G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002966268]	likely benign	7	157409782	157409782	Human	2	name , trait
155989992	CV2151210	single nucleotide variant	NM_058246.4(DNAJB6):c.620+17C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003016781]	likely benign	7	157385025	157385025	Human	2	name , trait
11548956	CV252659	single nucleotide variant	NM_058246.4(DNAJB6):c.176-20A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002058388]\|not provided [RCV001795466]\|not specified [RCV000249775]	benign\|likely benign	7	157366482	157366482	Human	2	name , trait
11637502	CV266670	single nucleotide variant	NM_058246.4(DNAJB6):c.478+10C>T	not provided [RCV000286938]	uncertain significance	7	157382387	157382387	Human		name
11642668	CV266758	single nucleotide variant	NM_058246.4(DNAJB6):c.479-10T>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001500584]\|not provided [RCV000379729]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157384857	157384857	Human	2	name , trait
404994121	CV2857560	single nucleotide variant	NM_058246.4(DNAJB6):c.346+19T>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003525462]	likely benign	7	157367502	157367502	Human	2	name , trait
405005628	CV2870012	single nucleotide variant	NM_058246.4(DNAJB6):c.236-17G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526759]	likely benign	7	157367356	157367356	Human	2	name , trait
405004911	CV2872837	single nucleotide variant	NM_058246.4(DNAJB6):c.346+11C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526675]	likely benign	7	157367494	157367494	Human	2	name , trait
405006316	CV2881089	single nucleotide variant	NM_058246.4(DNAJB6):c.621-18T>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526823]	likely benign	7	157385523	157385523	Human	2	name , trait
405010257	CV2898257	single nucleotide variant	NM_058246.4(DNAJB6):c.479-14C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003527181]	likely benign	7	157384853	157384853	Human	2	name , trait
11585131	CV302299	single nucleotide variant	NM_058246.4(DNAJB6):c.347-14A>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000278742]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000373263]	conflicting interpretations of pathogenicity\|uncertain significance	7	157382232	157382232	Human	3	name , trait
11589815	CV302312	single nucleotide variant	NM_058246.4(DNAJB6):c.692-13G>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002058660]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000395818]\|Myofibrillar Myopathy, Dominant [RCV000313498]\|not provided [RCV001697764]	benign\|likely benign	7	157409782	157409782	Human	4	name , trait
405167719	CV3030175	duplication	NM_058246.4(DNAJB6):c.235+19dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003638187]	benign	7	157366574	157366575	Human	2	name , trait
405170469	CV3051405	single nucleotide variant	NM_058246.4(DNAJB6):c.235+12A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003638456]	likely benign	7	157366573	157366573	Human	2	name , trait
405218846	CV3135658	single nucleotide variant	NM_058246.4(DNAJB6):c.235+20C>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003824283]	likely benign	7	157366581	157366581	Human	2	name , trait
405216196	CV3143362	single nucleotide variant	NM_058246.4(DNAJB6):c.235+13G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003846526]	likely benign	7	157366574	157366574	Human	2	name , trait
12836022	CV369118	single nucleotide variant	NM_058246.4(DNAJB6):c.621-15A>T	not specified [RCV000422685]	likely benign	7	157385526	157385526	Human		name
12835819	CV369698	single nucleotide variant	NM_058246.4(DNAJB6):c.175+13G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002526329]\|not specified [RCV000422348]	likely benign	7	157363283	157363283	Human	2	name , trait
597834770	CV3739554	single nucleotide variant	NM_058246.4(DNAJB6):c.176-19C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005063773]	likely benign	7	157366483	157366483	Human	2	name , trait
597860534	CV3770109	single nucleotide variant	NM_058246.4(DNAJB6):c.346+19T>C	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005105961]	likely benign	7	157367502	157367502	Human	2	name , trait
597900634	CV3835403	single nucleotide variant	NM_058246.4(DNAJB6):c.692-12C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005181126]	likely benign	7	157409783	157409783	Human	2	name , trait
597927599	CV3836972	single nucleotide variant	NM_058246.4(DNAJB6):c.347-18G>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005185323]	likely benign	7	157382228	157382228	Human	2	name , trait
13540087	CV501995	single nucleotide variant	NM_058246.4(DNAJB6):c.346+13C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002065270]\|not specified [RCV000614214]	likely benign	7	157367496	157367496	Human	2	name , trait
14737477	CV662328	single nucleotide variant	NM_058246.4(DNAJB6):c.175+79T>C	not provided [RCV000838945]	benign	7	157363349	157363349	Human		name
14737462	CV662888	single nucleotide variant	NM_058246.4(DNAJB6):c.899-93C>T	not provided [RCV000838939]	benign	7	157415923	157415923	Human		name
14707611	CV662910	single nucleotide variant	NM_058246.4(DNAJB6):c.65+297T>C	not provided [RCV000826892]	benign	7	157358934	157358934	Human		name
14733243	CV662923	single nucleotide variant	NM_058246.4(DNAJB6):c.692-70C>T	not provided [RCV000837012]	likely benign	7	157409725	157409725	Human		name
26916292	CV852343	single nucleotide variant	NM_058246.4(DNAJB6):c.176-10C>A	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001040202]	likely benign\|uncertain significance	7	157366492	157366492	Human	2	name , trait
152083237	CV900335	single nucleotide variant	NM_058246.4(DNAJB6):c.899-13C>T	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002149586]	likely benign	7	157416003	157416003	Human	2	name , trait
150336662	CV1171698	single nucleotide variant	NM_058246.4(DNAJB6):c.235+288A>G	not provided [RCV001541101]	likely benign	7	157366849	157366849	Human		name
150410665	CV1176890	single nucleotide variant	NM_058246.4(DNAJB6):c.236-345G>A	not provided [RCV001546764]	likely benign	7	157367028	157367028	Human		name
150425584	CV1183960	single nucleotide variant	NM_058246.4(DNAJB6):c.176-164G>A	not provided [RCV001558196]	likely benign	7	157366338	157366338	Human		name
150427255	CV1187219	single nucleotide variant	NM_058246.4(DNAJB6):c.347-146C>T	not provided [RCV001560687]	likely benign	7	157382100	157382100	Human		name
150421493	CV1193918	single nucleotide variant	NM_058246.4(DNAJB6):c.898+130G>A	not provided [RCV001570569]	likely benign	7	157410131	157410131	Human		name
150486898	CV1203372	single nucleotide variant	NM_058246.4(DNAJB6):c.176-119C>T	not provided [RCV001591550]	likely benign	7	157366383	157366383	Human		name
150468789	CV1207464	single nucleotide variant	NM_058246.4(DNAJB6):c.620+114C>T	not provided [RCV001588153]	likely benign	7	157385122	157385122	Human		name
150479937	CV1207919	single nucleotide variant	NM_058246.4(DNAJB6):c.478+223A>G	not provided [RCV001590195]	likely benign	7	157382600	157382600	Human		name
150501303	CV1213325	single nucleotide variant	NM_058246.4(DNAJB6):c.-27+191A>T	not provided [RCV001594737]	benign	7	157337335	157337335	Human		name
150497820	CV1224033	duplication	NM_058246.4(DNAJB6):c.691+240dup	not provided [RCV001620145]	benign	7	157385841	157385842	Human		name
150435347	CV1233837	single nucleotide variant	NM_058246.4(DNAJB6):c.692-137A>G	not provided [RCV001643964]	benign	7	157409658	157409658	Human		name
150464316	CV1252658	single nucleotide variant	NM_058246.4(DNAJB6):c.691+209T>G	not provided [RCV001669982]	benign	7	157385820	157385820	Human		name
150493256	CV1257517	single nucleotide variant	NM_058246.4(DNAJB6):c.346+180C>T	not provided [RCV001675190]	benign	7	157367663	157367663	Human		name
150495099	CV1282864	single nucleotide variant	NM_058246.4(DNAJB6):c.-27+144C>T	not provided [RCV001717314]	benign	7	157337288	157337288	Human		name
150443114	CV1287836	single nucleotide variant	NM_058246.4(DNAJB6):c.346+194A>G	not provided [RCV001725557]	benign	7	157367677	157367677	Human		name
150443188	CV1287848	single nucleotide variant	NM_058246.4(DNAJB6):c.175+152T>C	not provided [RCV001725569]	benign	7	157363422	157363422	Human		name
14718857	CV662337	single nucleotide variant	NM_058246.4(DNAJB6):c.479-262G>T	not provided [RCV000830525]	benign	7	157384605	157384605	Human		name
14737455	CV662340	single nucleotide variant	NM_058246.4(DNAJB6):c.479-194C>G	not provided [RCV000838935]	benign	7	157384673	157384673	Human		name
14737486	CV662349	single nucleotide variant	NM_058246.4(DNAJB6):c.692-207T>A	not provided [RCV000838948]	benign	7	157409588	157409588	Human		name
14707617	CV662357	single nucleotide variant	NM_058246.4(DNAJB6):c.899-252C>T	not provided [RCV000826893]	benign	7	157415764	157415764	Human		name
14737450	CV662817	single nucleotide variant	NM_058246.4(DNAJB6):c.175+247G>A	not provided [RCV000838933]	benign	7	157363517	157363517	Human		name
14737453	CV662818	single nucleotide variant	NM_058246.4(DNAJB6):c.235+168G>A	not provided [RCV000838934]	benign	7	157366729	157366729	Human		name
14737460	CV662826	single nucleotide variant	NM_058246.4(DNAJB6):c.898+239C>T	not provided [RCV000838938]	benign	7	157410240	157410240	Human		name
14733818	CV662828	single nucleotide variant	NM_058246.4(DNAJB6):c.899-163C>T	not provided [RCV000837274]	benign	7	157415853	157415853	Human		name
14737488	CV662831	single nucleotide variant	NM_058246.4(DNAJB6):c.899-140G>A	not provided [RCV000838949]	benign	7	157415876	157415876	Human		name
14737493	CV662833	single nucleotide variant	NM_058246.4(DNAJB6):c.899-118T>C	not provided [RCV000838951]	benign	7	157415898	157415898	Human		name
14737446	CV662869	single nucleotide variant	NM_058246.4(DNAJB6):c.-26-218C>T	not provided [RCV000838932]	benign	7	157358329	157358329	Human		name
14740929	CV662876	single nucleotide variant	NM_058246.4(DNAJB6):c.175+187C>T	not provided [RCV000840554]	benign	7	157363457	157363457	Human		name
14719779	CV662877	single nucleotide variant	NM_058246.4(DNAJB6):c.175+278G>C	not provided [RCV000830932]	benign	7	157363548	157363548	Human		name
151350752	CV1324823	single nucleotide variant	NM_058246.4(DNAJB6):c.347-3569A>G	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001809268]	uncertain significance	7	157378677	157378677	Human	2	name , trait
12898725	CV407113	microsatellite	NM_058246.4(DNAJB6):c.692-26CT[6]	not specified [RCV000478544]	likely benign	7	157409768	157409769	Human		name
127263292	CV1096197	deletion	NM_058246.4(DNAJB6):c.347-12_347-6del	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001439249]	likely benign	7	157382232	157382238	Human	2	name , trait
152054383	CV1633040	single nucleotide variant	NM_058246.4(DNAJB6):c.21T>G (p.Val7=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002127595]	likely benign	7	157358593	157358593	Human	2	name , trait
156049793	CV1923858	single nucleotide variant	NM_058246.4(DNAJB6):c.27C>T (p.Gly9=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002637894]	likely benign	7	157358599	157358599	Human	2	name , trait
127249566	CV1096196	single nucleotide variant	NM_058246.4(DNAJB6):c.75A>G (p.Lys25=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001436118]	likely benign	7	157363170	157363170	Human	2	name , trait
153348921	CV1692976	single nucleotide variant	NM_058246.4(DNAJB6):c.78G>A (p.Leu26=)	Muscle weakness [RCV002274826]	uncertain significance	7	157363173	157363173	Human	2	name
155948547	CV2162274	single nucleotide variant	NM_058246.4(DNAJB6):c.48C>G (p.Pro16=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003014715]	likely benign	7	157358620	157358620	Human	2	name , trait
11643864	CV266559	single nucleotide variant	NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000551732]\|DNAJB6-related disorder [RCV003930062]\|not provided [RCV000725069]\|not specified [RCV000401998]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157358620	157358620	Human	2	name , trait , alternate_id
11643556	CV267921	single nucleotide variant	NM_058246.4(DNAJB6):c.63G>A (p.Lys21=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001471744]\|not provided [RCV000396152]	likely benign\|uncertain significance	7	157358635	157358635	Human	2	name , trait
408366567	CV3512151	single nucleotide variant	NM_058246.4(DNAJB6):c.48C>A (p.Pro16=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005103782]\|DNAJB6-related disorder [RCV004756829]	benign\|likely benign	7	157358620	157358620	Human	2	name , trait , alternate_id
15122502	CV692189	single nucleotide variant	NM_058246.4(DNAJB6):c.69T>C (p.Tyr23=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000874426]	likely benign	7	157363164	157363164	Human	2	name , trait
15143727	CV710895	single nucleotide variant	NM_058246.4(DNAJB6):c.57T>C (p.Ile19=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000966716]	likely benign	7	157358629	157358629	Human	2	name , trait
15143192	CV710896	single nucleotide variant	NM_058246.4(DNAJB6):c.81A>G (p.Ala27=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001515103]	benign	7	157363176	157363176	Human	2	name , trait
38471343	CV933799	single nucleotide variant	NM_058246.4(DNAJB6):c.66A>G (p.Ala22=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001213754]\|not provided [RCV001815513]	likely benign\|uncertain significance	7	157363161	157363161	Human	2	name , trait
151725537	CV1364880	duplication	NM_058246.4(DNAJB6):c.45dup (p.Pro16fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002040627]	uncertain significance	7	157358616	157358617	Human	2	name , trait
151803759	CV1424705	single nucleotide variant	NM_058246.4(DNAJB6):c.156A>G (p.Ala52=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001867364]	likely benign\|uncertain significance	7	157363251	157363251	Human	2	name , trait
152041241	CV1553487	single nucleotide variant	NM_058246.4(DNAJB6):c.166C>T (p.Leu56=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002087990]	likely benign	7	157363261	157363261	Human	2	name , trait
152036582	CV1605477	single nucleotide variant	NM_058246.4(DNAJB6):c.258A>G (p.Pro86=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002107085]	likely benign	7	157367395	157367395	Human	2	name , trait
152120376	CV1612354	single nucleotide variant	NM_058246.4(DNAJB6):c.177T>C (p.Ala59=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002135633]	likely benign	7	157366503	157366503	Human	2	name , trait
152123072	CV1641058	single nucleotide variant	NM_058246.4(DNAJB6):c.171G>A (p.Ser57=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002098432]	likely benign	7	157363266	157363266	Human	2	name , trait
156173199	CV1930276	single nucleotide variant	NM_058246.4(DNAJB6):c.204T>C (p.Tyr68=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002624781]	likely benign	7	157366530	157366530	Human	2	name , trait
156163508	CV2045007	single nucleotide variant	NM_058246.4(DNAJB6):c.135A>G (p.Lys45=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002741631]	likely benign	7	157363230	157363230	Human	2	name , trait
156302560	CV2105035	single nucleotide variant	NM_058246.4(DNAJB6):c.183A>G (p.Lys61=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002922649]	likely benign	7	157366509	157366509	Human	2	name , trait
156317021	CV2140380	single nucleotide variant	NM_058246.4(DNAJB6):c.219A>G (p.Leu73=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003011449]	likely benign	7	157366545	157366545	Human	2	name , trait
11578681	CV265509	single nucleotide variant	NM_058246.4(DNAJB6):c.279C>T (p.Phe93=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000548101]\|Myofibrillar Myopathy, Dominant [RCV000341832]\|not provided [RCV001573406]\|not specified [RCV000400694]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	157367416	157367416	Human	3	name , trait
405008239	CV2885219	single nucleotide variant	NM_058246.4(DNAJB6):c.165G>A (p.Val55=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526856]	likely benign	7	157363260	157363260	Human	2	name , trait
405183294	CV2980882	single nucleotide variant	NM_058246.4(DNAJB6):c.189C>T (p.Asp63=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639793]	likely benign	7	157366515	157366515	Human	2	name , trait
597955994	CV3809600	single nucleotide variant	NM_058246.4(DNAJB6):c.207C>G (p.Gly69=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005162325]	likely benign	7	157366533	157366533	Human	2	name , trait
13535144	CV502319	single nucleotide variant	NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001450622]\|not provided [RCV000734759]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157367413	157367413	Human	2	name , trait
15139219	CV692190	single nucleotide variant	NM_058246.4(DNAJB6):c.114T>C (p.Asn38=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001485098]	likely benign	7	157363209	157363209	Human	2	name , trait
127239610	CV1074580	single nucleotide variant	NM_058246.4(DNAJB6):c.837G>A (p.Glu279=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001397597]	likely benign	7	157409940	157409940	Human	2	name , trait
127267811	CV1096198	single nucleotide variant	NM_058246.4(DNAJB6):c.432C>T (p.Phe144=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001429799]	likely benign	7	157382331	157382331	Human	2	name , trait
127277644	CV1096199	single nucleotide variant	NM_058246.4(DNAJB6):c.657A>G (p.Glu219=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001444550]	likely benign	7	157385577	157385577	Human	2	name , trait
127260827	CV1096200	single nucleotide variant	NM_058246.4(DNAJB6):c.748C>T (p.Leu250=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001427961]	likely benign	7	157409851	157409851	Human	2	name , trait
127294901	CV1117713	single nucleotide variant	NM_058246.4(DNAJB6):c.765C>T (p.Ala255=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001476970]	likely benign	7	157409868	157409868	Human	2	name , trait
127335746	CV1117714	single nucleotide variant	NM_058246.4(DNAJB6):c.882C>A (p.Pro294=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001474467]	likely benign	7	157409985	157409985	Human	2	name , trait
127305600	CV1138644	single nucleotide variant	NM_058246.4(DNAJB6):c.705C>T (p.Asp235=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001479800]	likely benign	7	157409808	157409808	Human	2	name , trait
150331607	CV1163496	deletion	NM_058246.4(DNAJB6):c.347-115_347-111del	not provided [RCV001527872]	benign	7	157382129	157382133	Human		name
150425347	CV1183961	deletion	NM_058246.4(DNAJB6):c.478+321_478+324del	not provided [RCV001557880]	likely benign	7	157382696	157382699	Human		name
150465617	CV1240271	duplication	NM_058246.4(DNAJB6):c.478+159_478+161dup	not provided [RCV001650032]	benign	7	157382535	157382536	Human		name
151880687	CV1475481	deletion	NM_058246.4(DNAJB6):c.278del (p.Phe93fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001961625]	uncertain significance	7	157367414	157367414	Human	2	name , trait
151873255	CV1499505	single nucleotide variant	NM_058246.4(DNAJB6):c.62A>G (p.Lys21Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001885544]	uncertain significance	7	157358634	157358634	Human	2	name , trait
152077287	CV1531299	single nucleotide variant	NM_058246.4(DNAJB6):c.678C>T (p.Ser226=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002210764]	likely benign	7	157385598	157385598	Human	2	name , trait
152114657	CV1537372	single nucleotide variant	NM_058246.4(DNAJB6):c.567A>G (p.Lys189=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002134941]	likely benign	7	157384955	157384955	Human	2	name , trait
152173669	CV1539741	single nucleotide variant	NM_058246.4(DNAJB6):c.867C>T (p.Pro289=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002162883]	likely benign	7	157409970	157409970	Human	2	name , trait
152031251	CV1546434	single nucleotide variant	NM_058246.4(DNAJB6):c.397A>C (p.Arg133=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002124511]	likely benign	7	157382296	157382296	Human	2	name , trait
152039104	CV1592683	single nucleotide variant	NM_058246.4(DNAJB6):c.702C>T (p.Asp234=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002187984]	likely benign	7	157409805	157409805	Human	2	name , trait
152052257	CV1617389	single nucleotide variant	NM_058246.4(DNAJB6):c.534G>A (p.Thr178=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002072525]	likely benign	7	157384922	157384922	Human	2	name , trait
152109848	CV1617559	single nucleotide variant	NM_058246.4(DNAJB6):c.684A>G (p.Thr228=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002116407]	likely benign	7	157385604	157385604	Human	2	name , trait
152042316	CV1621687	single nucleotide variant	NM_058246.4(DNAJB6):c.825T>C (p.Cys275=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002107913]	likely benign	7	157409928	157409928	Human	2	name , trait
152139392	CV1624967	single nucleotide variant	NM_058246.4(DNAJB6):c.444G>A (p.Pro148=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002219174]	likely benign	7	157382343	157382343	Human	2	name , trait
152133521	CV1666343	single nucleotide variant	NM_058246.4(DNAJB6):c.816G>A (p.Ala272=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002099803]	likely benign	7	157409919	157409919	Human	2	name , trait
156393514	CV1933992	single nucleotide variant	NM_058246.4(DNAJB6):c.636T>G (p.Gly212=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002654627]	likely benign	7	157385556	157385556	Human	2	name , trait
156313000	CV1969892	single nucleotide variant	NM_058246.4(DNAJB6):c.55A>G (p.Ile19Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002578798]	uncertain significance	7	157358627	157358627	Human	2	name , trait
156080714	CV1982742	single nucleotide variant	NM_058246.4(DNAJB6):c.747C>T (p.Ala249=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002638890]	likely benign	7	157409850	157409850	Human	2	name , trait
156052847	CV2027446	single nucleotide variant	NM_058246.4(DNAJB6):c.822C>T (p.His274=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002736568]	likely benign	7	157409925	157409925	Human	2	name , trait
156203748	CV2034851	single nucleotide variant	NM_058246.4(DNAJB6):c.951G>A (p.Lys317=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002766336]	likely benign	7	157416068	157416068	Human	2	name , trait
156311113	CV2082478	single nucleotide variant	NM_058246.4(DNAJB6):c.49G>T (p.Glu17Ter)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002898722]	uncertain significance	7	157358621	157358621	Human	2	name , trait
11542890	CV252660	single nucleotide variant	NM_058246.4(DNAJB6):c.429G>C (p.Ala143=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000875310]\|not provided [RCV003422180]\|not specified [RCV000241736]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	157382328	157382328	Human	2	name , trait
11640906	CV268510	single nucleotide variant	NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001520299]\|not provided [RCV000725422]\|not specified [RCV000347431]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157409934	157409934	Human	2	name , trait
11637739	CV269065	single nucleotide variant	NM_058246.4(DNAJB6):c.417G>A (p.Ser139=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000877550]\|not provided [RCV001697736]\|not specified [RCV000291261]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157382316	157382316	Human	2	name , trait
11641689	CV269371	single nucleotide variant	NM_058246.4(DNAJB6):c.510G>A (p.Gly170=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001471989]\|not provided [RCV000361175]	likely benign\|uncertain significance	7	157384898	157384898	Human	2	name , trait
11642480	CV270434	single nucleotide variant	NM_058246.4(DNAJB6):c.64G>A (p.Ala22Thr)	not provided [RCV000376419]	uncertain significance	7	157358636	157358636	Human		name
11639534	CV270933	single nucleotide variant	NM_058246.4(DNAJB6):c.459A>C (p.Gly153=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001397087]\|not provided [RCV000320422]	likely benign\|uncertain significance	7	157382358	157382358	Human	2	name , trait
11577748	CV272684	single nucleotide variant	NM_058246.4(DNAJB6):c.948G>A (p.Ser316=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000540584]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000379972]\|not specified [RCV000298150]	benign\|likely benign	7	157416065	157416065	Human	3	name , trait
11637708	CV272849	single nucleotide variant	NM_058246.4(DNAJB6):c.891C>T (p.Ser297=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001859682]\|not provided [RCV000289040]	likely benign\|uncertain significance	7	157409994	157409994	Human	2	name , trait
11638299	CV273288	single nucleotide variant	NM_058246.4(DNAJB6):c.513C>A (p.Gly171=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001437753]\|not provided [RCV000300891]	likely benign\|uncertain significance	7	157384901	157384901	Human	2	name , trait
11636330	CV275368	single nucleotide variant	NM_058246.4(DNAJB6):c.429G>A (p.Ala143=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001438617]\|DNAJB6-related disorder [RCV004755850]\|not provided [RCV000266880]	likely benign\|uncertain significance	7	157382328	157382328	Human	2	name , trait , alternate_id
401932668	CV2804347	single nucleotide variant	NM_058246.4(DNAJB6):c.52G>A (p.Asp18Asn)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003778295]\|DNAJB6-related disorder [RCV003408756]\|Inborn genetic diseases [RCV004978849]	uncertain significance	7	157358624	157358624	Human	3	name , trait , alternate_id
405007910	CV2882753	single nucleotide variant	NM_058246.4(DNAJB6):c.70C>T (p.Arg24Trp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526970]	uncertain significance	7	157363165	157363165	Human	2	name , trait
405001327	CV2917806	single nucleotide variant	NM_058246.4(DNAJB6):c.408G>C (p.Gly136=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526341]	likely benign	7	157382307	157382307	Human	2	name , trait
405002563	CV2928663	single nucleotide variant	NM_058246.4(DNAJB6):c.639A>G (p.Gln213=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526465]	likely benign	7	157385559	157385559	Human	2	name , trait
405185771	CV3005441	single nucleotide variant	NM_058246.4(DNAJB6):c.59A>G (p.Lys20Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003640205]	uncertain significance	7	157358631	157358631	Human	2	name , trait
11646097	CV302314	single nucleotide variant	NM_058246.4(DNAJB6):c.723G>A (p.Glu241=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000268871]\|Myofibrillar Myopathy, Dominant [RCV000363412]	conflicting interpretations of pathogenicity\|uncertain significance	7	157409826	157409826	Human	3	name , trait
405169142	CV3042675	single nucleotide variant	NM_058246.4(DNAJB6):c.65C>T (p.Ala22Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003638339]	uncertain significance	7	157358637	157358637	Human	2	name , trait
405178401	CV3077741	single nucleotide variant	NM_058246.4(DNAJB6):c.885C>T (p.Leu295=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639363]	likely benign	7	157409988	157409988	Human	2	name , trait
405222383	CV3154923	single nucleotide variant	NM_058246.4(DNAJB6):c.744C>T (p.Asn248=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003847419]	likely benign	7	157409847	157409847	Human	2	name , trait
12837839	CV369123	single nucleotide variant	NM_058246.4(DNAJB6):c.798C>T (p.Ala266=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001432788]\|not specified [RCV000425860]	likely benign	7	157409901	157409901	Human	2	name , trait
12840572	CV369415	single nucleotide variant	NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001085500]\|not provided [RCV000727354]\|not specified [RCV000430972]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157384952	157384952	Human	2	name , trait
597844208	CV3752582	single nucleotide variant	NM_058246.4(DNAJB6):c.522A>G (p.Ser174=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005086988]	likely benign	7	157384910	157384910	Human	2	name , trait
597966160	CV3845035	single nucleotide variant	NM_058246.4(DNAJB6):c.963G>T (p.Ser321=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005194363]	likely benign	7	157416080	157416080	Human	2	name , trait
597904748	CV3853014	single nucleotide variant	NM_058246.4(DNAJB6):c.594T>G (p.Val198=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005202671]	likely benign	7	157384982	157384982	Human	2	name , trait
13621173	CV522506	single nucleotide variant	NM_058246.4(DNAJB6):c.801G>T (p.Ser267=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000648070]	likely benign	7	157409904	157409904	Human	2	name , trait
13803767	CV561425	single nucleotide variant	NM_058246.4(DNAJB6):c.69T>A (p.Tyr23Ter)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000684968]	uncertain significance	7	157363164	157363164	Human	2	name , trait
13833070	CV584298	single nucleotide variant	NM_058246.4(DNAJB6):c.438A>C (p.Gly146=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001460486]\|not provided [RCV000728220]	likely benign\|uncertain significance	7	157382337	157382337	Human	2	name , trait
13834718	CV585967	single nucleotide variant	NM_058246.4(DNAJB6):c.411G>A (p.Thr137=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003525957]\|not provided [RCV000730306]	likely benign\|uncertain significance	7	157382310	157382310	Human	2	name , trait
13837105	CV588390	single nucleotide variant	NM_058246.4(DNAJB6):c.633C>T (p.Asn211=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001478166]\|not provided [RCV000733404]	likely benign\|uncertain significance	7	157385553	157385553	Human	2	name , trait
13837565	CV588855	single nucleotide variant	NM_058246.4(DNAJB6):c.801G>A (p.Ser267=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001493549]\|not provided [RCV000734027]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157409904	157409904	Human	2	name , trait
14709763	CV662824	microsatellite	NM_058246.4(DNAJB6):c.620+249_620+256del	not provided [RCV000838937]	benign	7	157385249	157385256	Human		name
15112493	CV692191	single nucleotide variant	NM_058246.4(DNAJB6):c.507C>T (p.His169=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000872540]\|not provided [RCV005256700]	benign\|likely benign	7	157384895	157384895	Human	2	name , trait
15103383	CV699964	single nucleotide variant	NM_058246.4(DNAJB6):c.699C>T (p.Ala233=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002066357]	likely benign	7	157409802	157409802	Human	2	name , trait
15148903	CV736043	single nucleotide variant	NM_058246.4(DNAJB6):c.333A>G (p.Ser111=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000900818]	likely benign	7	157367470	157367470	Human	2	name , trait
15137470	CV736044	single nucleotide variant	NM_058246.4(DNAJB6):c.813C>T (p.His271=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001433204]	likely benign	7	157409916	157409916	Human	2	name , trait
15178939	CV766197	single nucleotide variant	NM_058246.4(DNAJB6):c.603A>G (p.Arg201=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001449277]	likely benign	7	157384991	157384991	Human	2	name , trait
15149395	CV766198	single nucleotide variant	NM_058246.4(DNAJB6):c.765C>A (p.Ala255=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000945299]	likely benign	7	157409868	157409868	Human	2	name , trait
26885504	CV833385	single nucleotide variant	NM_058246.4(DNAJB6):c.40G>T (p.Ala14Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001053633]	uncertain significance	7	157358612	157358612	Human	2	name , trait
28871506	CV897740	single nucleotide variant	NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001163995]\|not specified [RCV001664715]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157409988	157409988	Human	2	name , trait
41406814	CV982644	single nucleotide variant	NM_058246.4(DNAJB6):c.777G>A (p.Pro259=)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001400632]\|not provided [RCV001288938]	likely benign	7	157409880	157409880	Human	2	name , trait
126729987	CV992219	deletion	NM_058246.4(DNAJB6):c.114del (p.Asn38fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001300195]	uncertain significance	7	157363209	157363209	Human	2	name , trait
126765292	CV1027920	single nucleotide variant	NM_058246.4(DNAJB6):c.122A>G (p.Glu41Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001341976]	uncertain significance	7	157363217	157363217	Human	2	name , trait
150556238	CV1296791	single nucleotide variant	NM_058246.4(DNAJB6):c.192C>G (p.Ile64Met)	not provided [RCV001774081]	uncertain significance	7	157366518	157366518	Human		name
150543947	CV1313056	single nucleotide variant	NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001783133]	pathogenic	7	157367408	157367408	Human	2	name , trait
151746633	CV1402121	single nucleotide variant	NM_058246.4(DNAJB6):c.173A>G (p.Asp58Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002042799]	uncertain significance	7	157363268	157363268	Human	2	name , trait
151761795	CV1455918	single nucleotide variant	NM_058246.4(DNAJB6):c.160G>A (p.Glu54Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002044366]	uncertain significance	7	157363255	157363255	Human	2	name , trait
151867347	CV1493524	single nucleotide variant	NM_058246.4(DNAJB6):c.122A>C (p.Glu41Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001959989]	uncertain significance	7	157363217	157363217	Human	2	name , trait
151875083	CV1511667	single nucleotide variant	NM_058246.4(DNAJB6):c.170C>T (p.Ser57Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001960943]	uncertain significance	7	157363265	157363265	Human	2	name , trait
151847205	CV1513215	single nucleotide variant	NM_058246.4(DNAJB6):c.280C>T (p.Arg94Cys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001922282]	uncertain significance	7	157367417	157367417	Human	2	name , trait
156305189	CV1868102	single nucleotide variant	NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003062151]	pathogenic	7	157367424	157367424	Human	2	name , trait
155925541	CV1987772	single nucleotide variant	NM_058246.4(DNAJB6):c.182A>G (p.Lys61Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002614750]	uncertain significance	7	157366508	157366508	Human	2	name , trait
156180520	CV2167493	single nucleotide variant	NM_058246.4(DNAJB6):c.233G>A (p.Gly78Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003023811]	uncertain significance	7	157366559	157366559	Human	2	name , trait
11075197	CV227090	single nucleotide variant	NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000210825]	pathogenic	7	157367408	157367408	Human	2	name , trait
11075124	CV227091	single nucleotide variant	NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)	Abnormality of the musculature [RCV001814119]\|Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000210832]\|not provided [RCV000726936]	pathogenic	7	157367410	157367410	Human	3	name , trait
243057971	CV2412224	single nucleotide variant	NM_058246.4(DNAJB6):c.172G>C (p.Asp58His)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146766]	uncertain significance	7	157363267	157363267	Human	2	name , trait
243057973	CV2412225	single nucleotide variant	NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146767]	uncertain significance	7	157367411	157367411	Human	2	name , trait
11638456	CV266778	single nucleotide variant	NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000698434]\|not provided [RCV000304104]	uncertain significance	7	157366556	157366556	Human	2	name , trait
11641298	CV269425	single nucleotide variant	NM_058246.4(DNAJB6):c.184C>T (p.Arg62Trp)	not provided [RCV000354433]	uncertain significance	7	157366510	157366510	Human		name
11654987	CV305507	single nucleotide variant	NM_058246.4(DNAJB6):c.188A>G (p.Asp63Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000377091]\|Myofibrillar Myopathy, Dominant [RCV000322439]	uncertain significance	7	157366514	157366514	Human	3	name , trait
405232719	CV3157540	single nucleotide variant	NM_058246.4(DNAJB6):c.285C>G (p.Asn95Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003865490]	uncertain significance	7	157367422	157367422	Human	2	name , trait
402471176	CV3171504	single nucleotide variant	NM_058246.4(DNAJB6):c.194A>G (p.Tyr65Cys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003874288]	uncertain significance	7	157366520	157366520	Human	2	name , trait
596923338	CV3530342	single nucleotide variant	NM_058246.4(DNAJB6):c.106C>T (p.Pro36Ser)	not provided [RCV004776941]	uncertain significance	7	157363201	157363201	Human		name
12741646	CV360892	single nucleotide variant	NM_058246.4(DNAJB6):c.179A>G (p.Lys60Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002521453]\|Muscle weakness [RCV000414831]	uncertain significance	7	157366505	157366505	Human	5	name , trait
597881277	CV3786821	deletion	NM_058246.4(DNAJB6):c.467del (p.Ser156fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005123897]	uncertain significance	7	157382366	157382366	Human	2	name , trait
597924773	CV3808692	single nucleotide variant	NM_058246.4(DNAJB6):c.176C>A (p.Ala59Asp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005156206]	uncertain significance	7	157366502	157366502	Human	2	name , trait
597897202	CV3834696	single nucleotide variant	NM_058246.4(DNAJB6):c.212A>C (p.Glu71Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005180607]	uncertain significance	7	157366538	157366538	Human	2	name , trait
597963272	CV3841474	single nucleotide variant	NM_058246.4(DNAJB6):c.235G>A (p.Gly79Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005193578]	uncertain significance	7	157366561	157366561	Human	2	name , trait
8602360	CV39861	single nucleotide variant	NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000023891]	pathogenic	7	157367414	157367414	Human	2	name , trait
8602361	CV39862	single nucleotide variant	NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000023892]\|not provided [RCV000594360]	pathogenic	7	157367424	157367424	Human	2	name , trait
8602461	CV40202	single nucleotide variant	NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000024240]\|not provided [RCV000498905]	pathogenic	7	157367416	157367416	Human	2	name , trait
8602462	CV40203	single nucleotide variant	NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000024241]\|not provided [RCV000414366]	pathogenic	7	157367416	157367416	Human	2	name , trait
8568894	CV40204	single nucleotide variant	NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000024242]\|Ehlers-Danlos syndrome, classic type, 2 [RCV005428994]\|not provided [RCV000724639]	pathogenic\|not provided	7	157367402	157367402	Human	4	name , trait
12906375	CV415093	single nucleotide variant	NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001865519]\|not provided [RCV000489139]	likely pathogenic\|conflicting interpretations of pathogenicity	7	157367402	157367402	Human	2	name , trait
13494973	CV456903	single nucleotide variant	NM_058246.4(DNAJB6):c.253A>G (p.Ser85Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000559294]	uncertain significance	7	157367390	157367390	Human	2	name , trait
13522474	CV489480	single nucleotide variant	NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000845572]\|not provided [RCV000591783]	pathogenic\|likely pathogenic\|drug response	7	157367408	157367408	Human	2	name , trait
13517884	CV491727	single nucleotide variant	NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001204396]\|not provided [RCV000596914]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	7	157363244	157363244	Human	2	name , trait
14702033	CV635958	single nucleotide variant	NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000806702]	uncertain significance	7	157363228	157363228	Human	2	name , trait
14721062	CV635959	single nucleotide variant	NM_058246.4(DNAJB6):c.248T>C (p.Phe83Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000796930]	uncertain significance	7	157367385	157367385	Human	2	name , trait
14737708	CV662874	insertion	NM_058246.4(DNAJB6):c.65+151_65+152insAAG	not provided [RCV000839044]	likely benign	7	157358788	157358789	Human		name
21074038	CV793208	single nucleotide variant	NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001243275]\|not provided [RCV000991909]	uncertain significance	7	157366529	157366529	Human	2	name , trait
26905453	CV818720	single nucleotide variant	NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001030757]	likely pathogenic	7	157367373	157367373	Human	2	name , trait
28867583	CV897738	single nucleotide variant	NM_058246.4(DNAJB6):c.230G>A (p.Gly77Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001161976]	uncertain significance	7	157366556	157366556	Human	2	name , trait
38488159	CV945540	single nucleotide variant	NM_058246.4(DNAJB6):c.142C>G (p.Gln48Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001237734]	uncertain significance	7	157363237	157363237	Human	2	name , trait
126729894	CV992220	single nucleotide variant	NM_058246.4(DNAJB6):c.296T>C (p.Val99Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001294615]	uncertain significance	7	157367433	157367433	Human	2	name , trait
126728294	CV1016870	single nucleotide variant	NM_058246.4(DNAJB6):c.681A>C (p.Leu227Phe)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001332784]	uncertain significance	7	157385601	157385601	Human	2	name , trait
126772591	CV1027921	single nucleotide variant	NM_058246.4(DNAJB6):c.702C>G (p.Asp234Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001345704]\|Inborn genetic diseases [RCV003246911]	uncertain significance	7	157409805	157409805	Human	3	name , trait
126911409	CV1044834	single nucleotide variant	NM_058246.4(DNAJB6):c.651A>T (p.Glu217Asp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001369201]	uncertain significance	7	157385571	157385571	Human	2	name , trait
126911641	CV1044835	single nucleotide variant	NM_058246.4(DNAJB6):c.773G>A (p.Arg258His)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001369320]	uncertain significance	7	157409876	157409876	Human	2	name , trait
126908992	CV1044836	single nucleotide variant	NM_058246.4(DNAJB6):c.814G>T (p.Ala272Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001368184]	uncertain significance	7	157409917	157409917	Human	2	name , trait
151831555	CV1343657	single nucleotide variant	NM_058246.4(DNAJB6):c.325C>A (p.Pro109Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001920540]	uncertain significance	7	157367462	157367462	Human	2	name , trait
151838543	CV1344794	single nucleotide variant	NM_058246.4(DNAJB6):c.825T>G (p.Cys275Trp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002015056]	uncertain significance	7	157409928	157409928	Human	2	name , trait
151812901	CV1345937	single nucleotide variant	NM_058246.4(DNAJB6):c.892G>T (p.Ala298Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001974954]	uncertain significance	7	157409995	157409995	Human	2	name , trait
151891321	CV1347000	single nucleotide variant	NM_058246.4(DNAJB6):c.932A>G (p.Lys311Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002039081]	uncertain significance	7	157416049	157416049	Human	2	name , trait
151754518	CV1355819	single nucleotide variant	NM_058246.4(DNAJB6):c.430T>C (p.Phe144Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001986619]	uncertain significance	7	157382329	157382329	Human	2	name , trait
151862237	CV1365051	single nucleotide variant	NM_058246.4(DNAJB6):c.329T>C (p.Phe110Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002017896]	uncertain significance	7	157367466	157367466	Human	2	name , trait
151840184	CV1369085	single nucleotide variant	NM_058246.4(DNAJB6):c.970G>A (p.Gly324Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002015236]	uncertain significance	7	157416087	157416087	Human	2	name , trait
151887291	CV1386188	single nucleotide variant	NM_058246.4(DNAJB6):c.392G>T (p.Gly131Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001942356]	uncertain significance	7	157382291	157382291	Human	2	name , trait
151877993	CV1387034	single nucleotide variant	NM_058246.4(DNAJB6):c.302G>C (p.Arg101Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001940638]	uncertain significance	7	157367439	157367439	Human	2	name , trait
151794320	CV1394967	single nucleotide variant	NM_058246.4(DNAJB6):c.869G>A (p.Gly290Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001973340]	uncertain significance	7	157409972	157409972	Human	2	name , trait
151863965	CV1416398	single nucleotide variant	NM_058246.4(DNAJB6):c.839A>G (p.Glu280Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001997502]	uncertain significance	7	157409942	157409942	Human	2	name , trait
151856222	CV1421828	single nucleotide variant	NM_058246.4(DNAJB6):c.731G>A (p.Arg244Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001937981]	uncertain significance	7	157409834	157409834	Human	2	name , trait
151836608	CV1466438	single nucleotide variant	NM_058246.4(DNAJB6):c.964A>T (p.Thr322Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001902363]	uncertain significance	7	157416081	157416081	Human	2	name , trait
151791701	CV1470908	single nucleotide variant	NM_058246.4(DNAJB6):c.824G>C (p.Cys275Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001931479]	uncertain significance	7	157409927	157409927	Human	2	name , trait
151784380	CV1474595	single nucleotide variant	NM_058246.4(DNAJB6):c.583A>G (p.Thr195Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001930746]\|Inborn genetic diseases [RCV004975866]	uncertain significance	7	157384971	157384971	Human	3	name , trait
151726598	CV1482298	single nucleotide variant	NM_058246.4(DNAJB6):c.770T>A (p.Leu257His)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002020852]	uncertain significance	7	157409873	157409873	Human	2	name , trait
153303654	CV1686401	single nucleotide variant	NM_058246.4(DNAJB6):c.494G>A (p.Gly165Glu)	not provided [RCV002261834]	uncertain significance	7	157384882	157384882	Human		name
155266665	CV1699233	single nucleotide variant	NM_058246.4(DNAJB6):c.844G>T (p.Glu282Ter)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526123]\|not provided [RCV002283028]	uncertain significance	7	157409947	157409947	Human	2	name , trait
156171539	CV1867104	single nucleotide variant	NM_058246.4(DNAJB6):c.499C>G (p.Leu167Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146576]\|not provided [RCV002508656]	uncertain significance	7	157384887	157384887	Human	2	name , trait
156390881	CV1872735	single nucleotide variant	NM_058246.4(DNAJB6):c.574T>C (p.Ser192Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003051303]	uncertain significance	7	157384962	157384962	Human	2	name , trait
156381901	CV1873756	single nucleotide variant	NM_058246.4(DNAJB6):c.892G>A (p.Ala298Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003067238]	uncertain significance	7	157409995	157409995	Human	2	name , trait
155982425	CV1896811	single nucleotide variant	NM_058246.4(DNAJB6):c.371G>A (p.Gly124Glu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003097450]	uncertain significance	7	157382270	157382270	Human	2	name , trait
10049768	CV190916	single nucleotide variant	NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001852118]\|Inborn genetic diseases [RCV002516604]\|not provided [RCV000173912]	uncertain significance	7	157416064	157416064	Human	3	name , trait
156092416	CV1909857	single nucleotide variant	NM_058246.4(DNAJB6):c.611C>T (p.Thr204Ile)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002591959]	uncertain significance	7	157384999	157384999	Human	2	name , trait
156200760	CV1952300	single nucleotide variant	NM_058246.4(DNAJB6):c.362A>G (p.Asp121Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002574770]	uncertain significance	7	157382261	157382261	Human	2	name , trait
156111866	CV1988824	single nucleotide variant	NM_058246.4(DNAJB6):c.976C>A (p.His326Asn)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002622610]	uncertain significance	7	157416093	157416093	Human	2	name , trait
156144967	CV2002939	single nucleotide variant	NM_058246.4(DNAJB6):c.412G>A (p.Gly138Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002663705]	uncertain significance	7	157382311	157382311	Human	2	name , trait
156091950	CV2013950	single nucleotide variant	NM_058246.4(DNAJB6):c.700G>A (p.Asp234Asn)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002694975]	uncertain significance	7	157409803	157409803	Human	2	name , trait
156300372	CV2017286	single nucleotide variant	NM_058246.4(DNAJB6):c.754G>C (p.Ala252Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002716030]	uncertain significance	7	157409857	157409857	Human	2	name , trait
156088829	CV2017385	single nucleotide variant	NM_058246.4(DNAJB6):c.710C>T (p.Ala237Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002694868]	uncertain significance	7	157409813	157409813	Human	2	name , trait
156122079	CV2035915	single nucleotide variant	NM_058246.4(DNAJB6):c.635G>A (p.Gly212Asp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002800266]\|not provided [RCV003222443]	uncertain significance	7	157385555	157385555	Human	2	name , trait
156285169	CV2050138	single nucleotide variant	NM_058246.4(DNAJB6):c.340T>G (p.Phe114Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002807127]	uncertain significance	7	157367477	157367477	Human	2	name , trait
156097109	CV2050924	single nucleotide variant	NM_058246.4(DNAJB6):c.754G>A (p.Ala252Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002824415]\|Inborn genetic diseases [RCV004617099]	uncertain significance	7	157409857	157409857	Human	3	name , trait
156153600	CV2066773	single nucleotide variant	NM_058246.4(DNAJB6):c.617A>C (p.Lys206Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002850953]	uncertain significance	7	157385005	157385005	Human	2	name , trait
156154489	CV2066918	single nucleotide variant	NM_058246.4(DNAJB6):c.766G>A (p.Gly256Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002850983]	uncertain significance	7	157409869	157409869	Human	2	name , trait
155984540	CV2094675	single nucleotide variant	NM_058246.4(DNAJB6):c.772C>T (p.Arg258Cys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002907861]\|Inborn genetic diseases [RCV004973683]	uncertain significance	7	157409875	157409875	Human	3	name , trait
156105389	CV2107965	single nucleotide variant	NM_058246.4(DNAJB6):c.640G>C (p.Glu214Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002927203]\|not provided [RCV003329450]	uncertain significance	7	157385560	157385560	Human	2	name , trait
156018739	CV2120748	single nucleotide variant	NM_058246.4(DNAJB6):c.685A>G (p.Ile229Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002944230]\|Inborn genetic diseases [RCV002976042]	uncertain significance	7	157385605	157385605	Human	3	name , trait
156136568	CV2129060	single nucleotide variant	NM_058246.4(DNAJB6):c.970G>T (p.Gly324Cys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV002954070]	uncertain significance	7	157416087	157416087	Human	2	name , trait
156110558	CV2177330	single nucleotide variant	NM_058246.4(DNAJB6):c.385C>A (p.Pro129Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003055074]	uncertain significance	7	157382284	157382284	Human	2	name , trait
155945466	CV2237991	single nucleotide variant	NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003143543]\|Inborn genetic diseases [RCV002752446]\|not provided [RCV004763567]	uncertain significance	7	157409971	157409971	Human	3	name , trait
11075199	CV227089	single nucleotide variant	NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000210839]	pathogenic	7	157367435	157367435	Human	2	name , trait
155961337	CV2311897	single nucleotide variant	NM_058246.4(DNAJB6):c.349G>T (p.Asp117Tyr)	Inborn genetic diseases [RCV002906059]	uncertain significance	7	157382248	157382248	Human	1	name
243057955	CV2412215	single nucleotide variant	NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146757]	uncertain significance	7	157382275	157382275	Human	2	name , trait
243057960	CV2412217	single nucleotide variant	NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146759]	uncertain significance	7	157382324	157382324	Human	2	name , trait
243057962	CV2412219	single nucleotide variant	NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146761]	uncertain significance	7	157409882	157409882	Human	2	name , trait
243057964	CV2412220	single nucleotide variant	NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146762]	uncertain significance	7	157409828	157409828	Human	2	name , trait
243057966	CV2412221	single nucleotide variant	NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146763]\|Inborn genetic diseases [RCV004621762]	uncertain significance	7	157409969	157409969	Human	3	name , trait
243057968	CV2412222	single nucleotide variant	NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146764]	uncertain significance	7	157384876	157384876	Human	2	name , trait
243057975	CV2412226	single nucleotide variant	NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003146768]	uncertain significance	7	157409941	157409941	Human	2	name , trait
329392382	CV2438910	single nucleotide variant	NM_058246.4(DNAJB6):c.419T>G (p.Phe140Cys)	Inborn genetic diseases [RCV003192635]	uncertain significance	7	157382318	157382318	Human	1	name
11642066	CV266184	single nucleotide variant	NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001087135]\|not provided [RCV000711475]\|not specified [RCV000367368]	benign\|likely benign	7	157416078	157416078	Human	2	name , trait
11643499	CV266777	single nucleotide variant	NM_058246.4(DNAJB6):c.947C>G (p.Ser316Trp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000706759]\|not provided [RCV000395199]	uncertain significance	7	157416064	157416064	Human	2	name , trait
11641175	CV267640	single nucleotide variant	NM_058246.4(DNAJB6):c.428C>T (p.Ala143Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001231363]\|Inborn genetic diseases [RCV004021135]\|not provided [RCV000351054]	likely benign\|uncertain significance	7	157382327	157382327	Human	3	name , trait
11579935	CV267980	single nucleotide variant	NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001079558]\|DNAJB6-related disorder [RCV003930085]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000371708]\|Myofibrillar Myopathy, Dominant [RCV000317139]\| ... (more) not provided [RCV000725321]\|not specified [RCV000359228]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157416079	157416079	Human	4	name , trait , alternate_id
11640647	CV268372	single nucleotide variant	NM_058246.4(DNAJB6):c.299T>C (p.Phe100Ser)	not provided [RCV000342591]	uncertain significance	7	157367436	157367436	Human		name
11642745	CV269830	single nucleotide variant	NM_058246.4(DNAJB6):c.928C>A (p.Gln310Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001855153]\|Inborn genetic diseases [RCV004619244]\|not provided [RCV000381059]	uncertain significance	7	157416045	157416045	Human	3	name , trait
11640030	CV270280	single nucleotide variant	NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001046298]\|not provided [RCV000330343]	conflicting interpretations of pathogenicity\|uncertain significance	7	157382309	157382309	Human	2	name , trait
11640195	CV270386	single nucleotide variant	NM_058246.4(DNAJB6):c.775C>T (p.Pro259Ser)	not provided [RCV000334436]	uncertain significance	7	157409878	157409878	Human		name
11641278	CV270490	single nucleotide variant	NM_058246.4(DNAJB6):c.547A>G (p.Ser183Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001859645]\|not provided [RCV000353998]\|not specified [RCV005238845]	uncertain significance	7	157384935	157384935	Human	2	name , trait
11643725	CV270502	single nucleotide variant	NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000648069]\|Inborn genetic diseases [RCV003298342]\|Muscular dystrophy, limb-girdle, autosomal dominant [RCV005355597]\|not provided [RCV001564257]\|not specified [RCV000399250]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157384990	157384990	Human	4	name , trait
11637208	CV270682	single nucleotide variant	NM_058246.4(DNAJB6):c.571A>G (p.Ile191Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000808816]\|not provided [RCV000282055]	uncertain significance	7	157384959	157384959	Human	2	name , trait
11579680	CV270697	single nucleotide variant	NM_058246.4(DNAJB6):c.860G>A (p.Arg287Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001085431]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000364425]\|not provided [RCV000547870]\|not specified [RCV000260470]	benign\|likely benign\|uncertain significance	7	157409963	157409963	Human	3	name , trait
11637240	CV270808	single nucleotide variant	NM_058246.4(DNAJB6):c.661G>A (p.Asp221Asn)	not provided [RCV000282645]	uncertain significance	7	157385581	157385581	Human		name
401730442	CV2711309	single nucleotide variant	NM_058246.4(DNAJB6):c.705C>G (p.Asp235Glu)	Inborn genetic diseases [RCV003271383]	likely benign	7	157409808	157409808	Human	1	name
11641988	CV272428	single nucleotide variant	NM_058246.4(DNAJB6):c.721G>A (p.Glu241Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001243766]\|not provided [RCV000367056]	uncertain significance	7	157409824	157409824	Human	2	name , trait
11637838	CV272527	single nucleotide variant	NM_058246.4(DNAJB6):c.923A>G (p.Lys308Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003525894]\|not provided [RCV000293016]	uncertain significance	7	157416040	157416040	Human	2	name , trait
11640426	CV272643	single nucleotide variant	NM_058246.4(DNAJB6):c.832G>C (p.Glu278Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001363192]\|not provided [RCV000338858]	uncertain significance	7	157409935	157409935	Human	2	name , trait
11640937	CV273113	single nucleotide variant	NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001078487]\|not provided [RCV000347935]\|not specified [RCV004999240]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157409809	157409809	Human	2	name , trait
11640427	CV274406	single nucleotide variant	NM_058246.4(DNAJB6):c.862G>A (p.Ala288Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001212704]\|Inborn genetic diseases [RCV004975405]\|not provided [RCV000338866]	uncertain significance	7	157409965	157409965	Human	3	name , trait
11638303	CV274688	single nucleotide variant	NM_058246.4(DNAJB6):c.868G>C (p.Gly290Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003144195]\|not provided [RCV000301004]	uncertain significance	7	157409971	157409971	Human	2	name , trait
11638594	CV274760	single nucleotide variant	NM_058246.4(DNAJB6):c.857C>T (p.Pro286Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000537383]\|Inborn genetic diseases [RCV004975407]\|not provided [RCV000305611]	uncertain significance	7	157409960	157409960	Human	3	name , trait
404977294	CV2849998	single nucleotide variant	NM_058246.4(DNAJB6):c.761C>G (p.Pro254Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003486057]	uncertain significance	7	157409864	157409864	Human	2	name , trait
404996281	CV2856906	single nucleotide variant	NM_058246.4(DNAJB6):c.590T>A (p.Met197Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003525678]	uncertain significance	7	157384978	157384978	Human	2	name , trait
405009698	CV2883972	single nucleotide variant	NM_058246.4(DNAJB6):c.476C>A (p.Thr159Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003527128]	uncertain significance	7	157382375	157382375	Human	2	name , trait
405013486	CV2904463	single nucleotide variant	NM_058246.4(DNAJB6):c.938G>C (p.Arg313Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003527492]	uncertain significance	7	157416055	157416055	Human	2	name , trait
405011783	CV2906193	single nucleotide variant	NM_058246.4(DNAJB6):c.508G>A (p.Gly170Arg)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003527329]	uncertain significance	7	157384896	157384896	Human	2	name , trait
405002768	CV2922564	single nucleotide variant	NM_058246.4(DNAJB6):c.715G>C (p.Ala239Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526485]	uncertain significance	7	157409818	157409818	Human	2	name , trait
405175407	CV2941551	single nucleotide variant	NM_058246.4(DNAJB6):c.725G>A (p.Arg242His)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639054]	uncertain significance	7	157409828	157409828	Human	2	name , trait
405179130	CV2949672	single nucleotide variant	NM_058246.4(DNAJB6):c.886G>A (p.Ala296Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639440]	uncertain significance	7	157409989	157409989	Human	2	name , trait
405179212	CV2949937	single nucleotide variant	NM_058246.4(DNAJB6):c.797C>T (p.Ala266Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639449]	uncertain significance	7	157409900	157409900	Human	2	name , trait
405182496	CV2978101	single nucleotide variant	NM_058246.4(DNAJB6):c.980A>G (p.Ter327Trp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003639828]	uncertain significance	7	157416097	157416097	Human	2	name , trait
405170498	CV3036902	single nucleotide variant	NM_058246.4(DNAJB6):c.382G>A (p.Gly128Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003638330]	uncertain significance	7	157382281	157382281	Human	2	name , trait
405172770	CV3060691	single nucleotide variant	NM_058246.4(DNAJB6):c.730C>T (p.Arg244Trp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003638613]	uncertain significance	7	157409833	157409833	Human	2	name , trait
11607001	CV310446	single nucleotide variant	NM_058246.4(DNAJB6):c.476C>T (p.Thr159Ile)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001045203]\|Limb-Girdle Muscular Dystrophy, Dominant [RCV000338490]\|Myofibrillar Myopathy, Dominant [RCV000404543]\|not provided [RCV000597222]	uncertain significance	7	157382375	157382375	Human	4	name , trait
11653778	CV310467	single nucleotide variant	NM_058246.4(DNAJB6):c.562T>C (p.Phe188Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000313013]\|Myofibrillar Myopathy, Dominant [RCV000349111]	uncertain significance	7	157384950	157384950	Human	3	name , trait
405114778	CV3115483	single nucleotide variant	NM_058246.4(DNAJB6):c.607A>G (p.Ile203Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003814165]	uncertain significance	7	157384995	157384995	Human	2	name , trait
405051987	CV3151026	single nucleotide variant	NM_058246.4(DNAJB6):c.377G>A (p.Arg126Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003849630]	uncertain significance	7	157382276	157382276	Human	2	name , trait
405238576	CV3165740	single nucleotide variant	NM_058246.4(DNAJB6):c.386C>A (p.Pro129His)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003866752]	uncertain significance	7	157382285	157382285	Human	2	name , trait
405731500	CV3244552	single nucleotide variant	NM_058246.4(DNAJB6):c.518C>T (p.Thr173Ile)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005103396]\|Inborn genetic diseases [RCV004379281]	uncertain significance	7	157384906	157384906	Human	3	name , trait
405731506	CV3244553	single nucleotide variant	NM_058246.4(DNAJB6):c.569C>T (p.Ser190Leu)	Inborn genetic diseases [RCV004379282]	uncertain significance	7	157384957	157384957	Human	1	name
407424767	CV3407426	single nucleotide variant	NM_058246.4(DNAJB6):c.845A>T (p.Glu282Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV004584272]	likely benign	7	157409948	157409948	Human	2	name , trait
407497251	CV3437488	single nucleotide variant	NM_058246.4(DNAJB6):c.365T>A (p.Phe122Tyr)	Inborn genetic diseases [RCV004622151]	uncertain significance	7	157382264	157382264	Human	1	name
407497254	CV3437489	single nucleotide variant	NM_058246.4(DNAJB6):c.634G>A (p.Gly212Ser)	Inborn genetic diseases [RCV004622152]	uncertain significance	7	157385554	157385554	Human	1	name
407497261	CV3437491	single nucleotide variant	NM_058246.4(DNAJB6):c.590T>C (p.Met197Thr)	Inborn genetic diseases [RCV004622154]	uncertain significance	7	157384978	157384978	Human	1	name
596932356	CV3538976	single nucleotide variant	NM_058246.4(DNAJB6):c.672A>C (p.Leu224Phe)	not provided [RCV004793102]	uncertain significance	7	157385592	157385592	Human		name
12845776	CV371078	single nucleotide variant	NM_058246.4(DNAJB6):c.815C>T (p.Ala272Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000806872]\|Inborn genetic diseases [RCV003168638]\|not specified [RCV000440418]	likely benign\|uncertain significance	7	157409918	157409918	Human	3	name , trait
597834749	CV3739550	single nucleotide variant	NM_058246.4(DNAJB6):c.335T>C (p.Phe112Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005063769]	uncertain significance	7	157367472	157367472	Human	2	name , trait
597830675	CV3743213	single nucleotide variant	NM_058246.4(DNAJB6):c.715G>T (p.Ala239Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005062221]	uncertain significance	7	157409818	157409818	Human	2	name , trait
597968828	CV3791083	single nucleotide variant	NM_058246.4(DNAJB6):c.491T>C (p.Phe164Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005141115]	uncertain significance	7	157384879	157384879	Human	2	name , trait
597949816	CV3797723	single nucleotide variant	NM_058246.4(DNAJB6):c.707A>G (p.Asp236Gly)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005135715]	uncertain significance	7	157409810	157409810	Human	2	name , trait
597955058	CV3809393	single nucleotide variant	NM_058246.4(DNAJB6):c.695T>C (p.Val232Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005162117]	uncertain significance	7	157409798	157409798	Human	2	name , trait
597934531	CV3810942	single nucleotide variant	NM_058246.4(DNAJB6):c.645A>T (p.Arg215Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005157651]	uncertain significance	7	157385565	157385565	Human	2	name , trait
597891048	CV3835959	single nucleotide variant	NM_058246.4(DNAJB6):c.357T>G (p.Phe119Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005179732]	uncertain significance	7	157382256	157382256	Human	2	name , trait
597917091	CV3842025	single nucleotide variant	NM_058246.4(DNAJB6):c.745G>C (p.Ala249Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005183700]	uncertain significance	7	157409848	157409848	Human	2	name , trait
616939316	CV4015647	single nucleotide variant	NM_058246.4(DNAJB6):c.821A>G (p.His274Arg)	not provided [RCV005413159]	uncertain significance	7	157409924	157409924	Human		name
13523954	CV488396	single nucleotide variant	NM_058246.4(DNAJB6):c.770T>C (p.Leu257Pro)	not provided [RCV000593644]	uncertain significance	7	157409873	157409873	Human		name
13516941	CV492870	single nucleotide variant	NM_058246.4(DNAJB6):c.381G>T (p.Arg127Ser)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001298374]\|not provided [RCV000596143]	uncertain significance	7	157382280	157382280	Human	2	name , trait
13621165	CV522739	single nucleotide variant	NM_058246.4(DNAJB6):c.799T>C (p.Ser267Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000648065]	uncertain significance	7	157409902	157409902	Human	2	name , trait
13621169	CV523165	single nucleotide variant	NM_058246.4(DNAJB6):c.938G>A (p.Arg313Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001405520]\|Inborn genetic diseases [RCV003258908]	likely benign\|uncertain significance	7	157416055	157416055	Human	3	name , trait
13816896	CV561429	single nucleotide variant	NM_058246.4(DNAJB6):c.470T>A (p.Phe157Tyr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000692636]	uncertain significance	7	157382369	157382369	Human	2	name , trait
13804871	CV561432	single nucleotide variant	NM_058246.4(DNAJB6):c.875G>A (p.Trp292Ter)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000685432]	uncertain significance	7	157409978	157409978	Human	2	name , trait
13833166	CV584394	single nucleotide variant	NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001084943]\|DNAJB6-related disorder [RCV003980362]\|not provided [RCV000728340]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157367479	157367479	Human	2	name , trait , alternate_id
13833941	CV585181	single nucleotide variant	NM_058246.4(DNAJB6):c.709G>C (p.Ala237Pro)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003485635]\|not provided [RCV000729333]	uncertain significance	7	157409812	157409812	Human	2	name , trait
13834524	CV585772	single nucleotide variant	NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000794806]\|Inborn genetic diseases [RCV003353009]\|not provided [RCV000730064]	conflicting interpretations of pathogenicity\|uncertain significance	7	157416091	157416091	Human	3	name , trait
13836428	CV587701	single nucleotide variant	NM_058246.4(DNAJB6):c.871C>A (p.Pro291Thr)	not provided [RCV000732543]	uncertain significance	7	157409974	157409974	Human		name
14695692	CV622886	single nucleotide variant	NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000785917]	uncertain significance	7	157384996	157384996	Human	2	name , trait
14735528	CV635960	single nucleotide variant	NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000819628]	uncertain significance	7	157367441	157367441	Human	2	name , trait
14708141	CV635961	single nucleotide variant	NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000809001]\|Inborn genetic diseases [RCV003258985]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	157382303	157382303	Human	3	name , trait
14705340	CV635962	single nucleotide variant	NM_058246.4(DNAJB6):c.512G>T (p.Gly171Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000791652]	uncertain significance	7	157384900	157384900	Human	2	name , trait
14717908	CV635963	single nucleotide variant	NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000812050]\|not provided [RCV001664432]\|not specified [RCV001844238]	uncertain significance	7	157409894	157409894	Human	2	name , trait
14729617	CV635964	single nucleotide variant	NM_058246.4(DNAJB6):c.869G>C (p.Gly290Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000800570]\|Inborn genetic diseases [RCV004972965]\|not provided [RCV002462156]	uncertain significance	7	157409972	157409972	Human	3	name , trait
15176249	CV722414	single nucleotide variant	NM_058246.4(DNAJB6):c.940G>A (p.Glu314Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005092627]	likely benign	7	157416057	157416057	Human	2	name , trait
21071698	CV790714	single nucleotide variant	NM_058246.4(DNAJB6):c.688A>G (p.Asn230Asp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000988025]	uncertain significance	7	157385608	157385608	Human	2	name , trait
26893376	CV833386	single nucleotide variant	NM_058246.4(DNAJB6):c.676T>G (p.Ser226Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001062668]	uncertain significance	7	157385596	157385596	Human	2	name , trait
26917216	CV833388	single nucleotide variant	NM_058246.4(DNAJB6):c.790C>T (p.Arg264Trp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001041509]	uncertain significance	7	157409893	157409893	Human	2	name , trait
28876082	CV858794	single nucleotide variant	NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001862670]\|Parkinson disease, late-onset [RCV001836943]	likely pathogenic\|uncertain significance	7	157384965	157384965	Human	4	name , trait
28871502	CV897739	single nucleotide variant	NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001163994]	uncertain significance	7	157409947	157409947	Human	2	name , trait
38489453	CV924775	single nucleotide variant	NM_058246.4(DNAJB6):c.388C>T (p.Arg130Ter)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001221705]	uncertain significance	7	157382287	157382287	Human	2	name , trait
38470636	CV933800	single nucleotide variant	NM_058246.4(DNAJB6):c.883C>G (p.Leu295Val)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001213618]	uncertain significance	7	157409986	157409986	Human	2	name , trait
38476167	CV945541	single nucleotide variant	NM_058246.4(DNAJB6):c.343T>C (p.Phe115Leu)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001232953]\|Inborn genetic diseases [RCV002567872]\|not provided [RCV004998752]	uncertain significance	7	157367480	157367480	Human	3	name , trait
404996898	CV2866657	indel	NM_058246.4(DNAJB6):c.620+16_620+17delinsAT	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003525652]	uncertain significance	7	157385024	157385025	Human		name , trait
405205661	CV3117043	indel	NM_058246.4(DNAJB6):c.621-17_621-16delinsTG	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003822527]	uncertain significance	7	157385524	157385525	Human		name , trait
11638522	CV272320	microsatellite	NM_058246.4(DNAJB6):c.949AAG[3] (p.Lys320del)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001294390]\|Muscular dystrophy, limb-girdle, autosomal dominant [RCV005355603]\|not provided [RCV000726116]	uncertain significance	7	157416065	157416067	Human		name , trait
404994308	CV2864468	duplication	NM_058246.4(DNAJB6):c.711_724dup (p.Arg242fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003525481]	uncertain significance	7	157409811	157409812	Human	2	name , trait
597896879	CV3782335	deletion	NM_058246.4(DNAJB6):c.584_587del (p.Thr195fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005126560]	uncertain significance	7	157384970	157384973	Human	2	name , trait
13834929	CV586180	microsatellite	NM_058246.4(DNAJB6):c.363CTT[1] (p.Phe123del)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV005092142]\|not provided [RCV000730579]	uncertain significance	7	157382262	157382264	Human		name , trait
38461927	CV919096	microsatellite	NM_058246.4(DNAJB6):c.939_942del (p.Glu314fs)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001197740]	uncertain significance	7	157416052	157416055	Human		name , trait
11637345	CV269104	indel	NM_058246.4(DNAJB6):c.958_959delinsTC (p.Lys320Ser)	not provided [RCV000284291]	uncertain significance	7	157416075	157416076	Human		name
405001059	CV2914615	indel	NM_058246.4(DNAJB6):c.787_788delinsTT (p.Pro263Phe)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003526310]	uncertain significance	7	157409890	157409891	Human		name , trait
402479276	CV3174410	indel	NM_058246.4(DNAJB6):c.340_341delinsGA (p.Phe114Asp)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003875757]	uncertain significance	7	157367477	157367478	Human		name , trait
151795247	CV1411023	deletion	NM_058246.4(DNAJB6):c.292_300del (p.Asp98_Phe100del)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001973419]	uncertain significance	7	157367429	157367437	Human	2	name , trait
13621170	CV523166	duplication	NM_058246.4(DNAJB6):c.961_972dup (p.Ser321_Gly324dup)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV000648068]\|not provided [RCV001766398]	uncertain significance	7	157416077	157416078	Human	2	name , trait
26897697	CV833387	duplication	NM_058246.4(DNAJB6):c.713_730dup (p.Leu238_Met243dup)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001066015]	uncertain significance	7	157409814	157409815	Human	2	name , trait
156439009	CV1943871	duplication	NM_058246.4(DNAJB6):c.749_757dup (p.Ala252_Gln253insLeuProAla)	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003108962]	uncertain significance	7	157409847	157409848	Human	2	name , trait
151816719	CV1356258	deletion	NC_000007.13:g.(?_157151257)_(157208802_?)del	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001919156]	uncertain significance				Human	2	trait
151867252	CV1381698	duplication	NC_000007.13:g.(?_157208690)_(157208792_?)dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001939310]	uncertain significance				Human	2	trait
151790367	CV1425771	duplication	NC_000007.13:g.(?_157151267)_(157160197_?)dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001990019]	uncertain significance				Human	2	trait
151712782	CV1479592	duplication	NC_000007.13:g.(?_157151267)_(157208792_?)dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV001889719]	uncertain significance				Human	2	trait
156450835	CV1949949	duplication	NC_000007.13:g.(?_157177541)_(157208792_?)dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003123010]	uncertain significance				Human	2	trait
156450836	CV1949950	duplication	NC_000007.13:g.(?_157202469)_(157208792_?)dup	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) [RCV003123011]	uncertain significance				Human	2	trait

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