Dbt Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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813 records found for search term Dbt

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28883415	CV861752	single nucleotide variant	NM_001918.5(DBT):c.*64A>G	Maple syrup urine disease [RCV001097491]	uncertain significance	1	100196191	100196191	Human	1	name
28878134	CV864939	single nucleotide variant	NM_001918.3(DBT):c.-40T>A	Maple syrup urine disease [RCV001095805]	uncertain significance	1	100249860	100249860	Human	1	name
127254196	CV1054723	single nucleotide variant	NM_001918.5(DBT):c.52-1G>A	Maple syrup urine disease [RCV001379105]	pathogenic\|likely pathogenic	1	100240885	100240885	Human	1	name
127253145	CV1087701	single nucleotide variant	NM_001918.5(DBT):c.52-4G>A	Maple syrup urine disease [RCV001425949]	likely benign	1	100240888	100240888	Human	1	name
127296212	CV1130099	deletion	NM_001918.5(DBT):c.52-6del	Maple syrup urine disease [RCV001497422]	likely benign	1	100240890	100240890	Human	1	name
150425030	CV1182726	single nucleotide variant	NM_001918.5(DBT):c.*389A>G	not provided [RCV001557464]	likely benign	1	100195866	100195866	Human		name
150536639	CV1312504	single nucleotide variant	NM_001918.5(DBT):c.52-1G>C	Maple syrup urine disease [RCV001780609]	pathogenic	1	100240885	100240885	Human	1	name
151841207	CV1428582	deletion	NM_001918.5(DBT):c.52-5del	Maple syrup urine disease [RCV001994771]	likely benign	1	100240889	100240889	Human	1	name
156048221	CV2091313	single nucleotide variant	NM_001918.5(DBT):c.52-9C>T	Maple syrup urine disease [RCV002886070]	likely benign	1	100240893	100240893	Human	1	name
11596499	CV275598	single nucleotide variant	NM_001918.5(DBT):c.*594A>G	Maple syrup urine disease [RCV000383229]	benign\|likely benign	1	100195661	100195661	Human	1	name
11635245	CV275603	single nucleotide variant	NM_001918.5(DBT):c.*488G>A	Maple syrup urine disease [RCV000324719]	uncertain significance	1	100195767	100195767	Human	1	name
11592066	CV275605	single nucleotide variant	NM_001918.5(DBT):c.*347C>T	Maple syrup urine disease [RCV000334994]	uncertain significance	1	100195908	100195908	Human	1	name
11655809	CV275626	single nucleotide variant	NM_001918.5(DBT):c.*635C>T	Maple syrup urine disease [RCV000328661]	uncertain significance	1	100195620	100195620	Human	1	name
11596167	CV275631	single nucleotide variant	NM_001918.5(DBT):c.*470G>A	Maple syrup urine disease [RCV000379307]\|not provided [RCV004713480]	benign\|uncertain significance	1	100195785	100195785	Human	1	name
11591758	CV275635	single nucleotide variant	NM_001918.5(DBT):c.*985C>T	Maple syrup urine disease [RCV000331970]\|not provided [RCV001651325]	benign\|likely benign	1	100195270	100195270	Human	1	name
11660011	CV275636	single nucleotide variant	NM_001918.5(DBT):c.*722C>T	Maple syrup urine disease [RCV000363465]	uncertain significance	1	100195533	100195533	Human	1	name
11585858	CV275637	single nucleotide variant	NM_001918.5(DBT):c.*551C>T	Maple syrup urine disease [RCV000283609]	uncertain significance	1	100195704	100195704	Human	1	name
11648039	CV275638	single nucleotide variant	NM_001918.5(DBT):c.*456C>G	Maple syrup urine disease [RCV000279976]	uncertain significance	1	100195799	100195799	Human	1	name
11597730	CV275640	single nucleotide variant	NM_001918.5(DBT):c.*344G>T	Maple syrup urine disease [RCV000397497]\|not provided [RCV001651326]	benign\|likely benign	1	100195911	100195911	Human	1	name
401940209	CV2831706	single nucleotide variant	NM_001918.5(DBT):c.51+1G>C	Maple syrup urine disease [RCV003445371]\|Maple syrup urine disease type 2 [RCV005021971]	likely pathogenic\|conflicting interpretations of pathogenicity	1	100249769	100249769	Human	2	name
405144754	CV2949849	single nucleotide variant	NM_001918.5(DBT):c.51+7A>G	Maple syrup urine disease [RCV003636239]	likely benign	1	100249763	100249763	Human	1	name
405137678	CV3023218	single nucleotide variant	NM_001918.5(DBT):c.52-5T>C	Maple syrup urine disease [RCV003635509]	likely benign	1	100240889	100240889	Human	1	name
13792240	CV540624	single nucleotide variant	NM_001918.5(DBT):c.*358A>C	Maple syrup urine disease type 1A [RCV005430595]	uncertain significance	1	100195897	100195897	Human	1	name
28893844	CV861748	single nucleotide variant	NM_001918.5(DBT):c.*918G>T	Maple syrup urine disease [RCV001101148]	uncertain significance	1	100195337	100195337	Human	1	name
28893846	CV861749	single nucleotide variant	NM_001918.5(DBT):c.*642T>C	Maple syrup urine disease [RCV001101149]	uncertain significance	1	100195613	100195613	Human	1	name
28883407	CV861750	single nucleotide variant	NM_001918.5(DBT):c.*295G>A	Maple syrup urine disease [RCV001097489]	uncertain significance	1	100195960	100195960	Human	1	name
28883410	CV861751	single nucleotide variant	NM_001918.5(DBT):c.*293C>T	Maple syrup urine disease [RCV001097490]	uncertain significance	1	100195962	100195962	Human	1	name
8640919	CV99905	single nucleotide variant	NM_001918.5(DBT):c.51+1G>T	Maple syrup urine disease [RCV001377582]\|Maple syrup urine disease type 2 [RCV005016361]\|not provided [RCV000173266]	pathogenic\|likely pathogenic	1	100249769	100249769	Human	2	name
8640920	CV99906	single nucleotide variant	NM_001918.5(DBT):c.51+5G>C	not provided [RCV000079946]	uncertain significance	1	100249765	100249765	Human		name
127247347	CV1054722	single nucleotide variant	NM_001918.5(DBT):c.252-1G>T	Maple syrup urine disease [RCV001377757]	likely pathogenic	1	100230915	100230915	Human	1	name
127248640	CV1065928	single nucleotide variant	NM_001918.5(DBT):c.772+9A>G	Maple syrup urine disease [RCV001417187]	likely benign	1	100215974	100215974	Human	1	name
127284035	CV1065929	single nucleotide variant	NM_001918.5(DBT):c.434-5A>C	Maple syrup urine disease [RCV001412185]	likely benign	1	100218752	100218752	Human	1	name
127239430	CV1065934	single nucleotide variant	NM_001918.5(DBT):c.175+9G>A	Maple syrup urine disease [RCV001397546]	likely benign	1	100240752	100240752	Human	1	name
127262795	CV1087692	single nucleotide variant	NM_001918.5(DBT):c.555+8C>A	Maple syrup urine disease [RCV001439128]	likely benign	1	100218618	100218618	Human	1	name
127303130	CV1130091	single nucleotide variant	NM_001918.5(DBT):c.940-5A>C	Maple syrup urine disease [RCV001479170]	likely benign	1	100210776	100210776	Human	1	name
127323073	CV1130092	single nucleotide variant	NM_001918.5(DBT):c.939+9C>T	Maple syrup urine disease [RCV001485148]	likely benign	1	100214808	100214808	Human	1	name
127329918	CV1130098	single nucleotide variant	NM_001918.5(DBT):c.176-4G>A	Maple syrup urine disease [RCV001487759]	likely benign	1	100235515	100235515	Human	1	name
150425745	CV1182725	deletion	NM_001918.5(DBT):c.*8554del	not provided [RCV001558416]	likely benign	1	100187701	100187701	Human		name
150496363	CV1206056	duplication	NM_001918.5(DBT):c.*1916dup	not provided [RCV001593738]	likely benign	1	100194338	100194339	Human		name
151799724	CV1445949	single nucleotide variant	NM_001918.5(DBT):c.175+1G>A	Maple syrup urine disease [RCV002011455]	likely pathogenic	1	100240760	100240760	Human	1	name
151780831	CV1446303	single nucleotide variant	NM_001918.5(DBT):c.772+1G>C	Maple syrup urine disease [RCV001989113]	likely pathogenic	1	100215982	100215982	Human	1	name
152050483	CV1527776	duplication	NM_001918.5(DBT):c.433+7dup	Maple syrup urine disease [RCV002089091]	likely benign	1	100230725	100230726	Human	1	name
152107907	CV1550650	single nucleotide variant	NM_001918.5(DBT):c.252-8T>C	Maple syrup urine disease [RCV002134101]	likely benign	1	100230922	100230922	Human	1	name
152041210	CV1555867	deletion	NM_001918.5(DBT):c.940-7del	Maple syrup urine disease [RCV002188286]	likely benign	1	100210778	100210778	Human	1	name
152175935	CV1580201	single nucleotide variant	NM_001918.5(DBT):c.772+7A>T	Maple syrup urine disease [RCV002164073]	likely benign	1	100215976	100215976	Human	1	name
152135080	CV1634382	single nucleotide variant	NM_001918.5(DBT):c.940-7T>C	Maple syrup urine disease [RCV002218605]	likely benign	1	100210778	100210778	Human	1	name
152165271	CV1654450	single nucleotide variant	NM_001918.5(DBT):c.52-18T>G	Maple syrup urine disease [RCV002181701]	likely benign	1	100240902	100240902	Human	1	name
155968153	CV1888673	single nucleotide variant	NM_001918.5(DBT):c.433+6G>A	Maple syrup urine disease [RCV003075043]\|not specified [RCV003479468]	uncertain significance	1	100230727	100230727	Human	1	name
10048710	CV194364	single nucleotide variant	NM_001918.5(DBT):c.433+1G>T	not provided [RCV000178173]	pathogenic	1	100230732	100230732	Human		name
156407913	CV1957648	single nucleotide variant	NM_001918.5(DBT):c.556-5T>C	Maple syrup urine disease [RCV002586361]	likely benign	1	100216204	100216204	Human	1	name
155935867	CV2045755	single nucleotide variant	NM_001918.5(DBT):c.51+14G>C	Maple syrup urine disease [RCV002751451]	likely benign	1	100249756	100249756	Human	1	name
156157363	CV2049362	duplication	NM_001918.5(DBT):c.556-3dup	Maple syrup urine disease [RCV002801501]	benign	1	100216201	100216202	Human	1	name
156279528	CV2053757	single nucleotide variant	NM_001918.5(DBT):c.251+9A>G	Maple syrup urine disease [RCV002806942]	likely benign	1	100235427	100235427	Human	1	name
156021142	CV2058949	single nucleotide variant	NM_001918.5(DBT):c.555+8C>T	Maple syrup urine disease [RCV002820620]	likely benign	1	100218618	100218618	Human	1	name
156296499	CV2073521	single nucleotide variant	NM_001918.5(DBT):c.51+18G>C	Maple syrup urine disease [RCV002833424]	likely benign	1	100249752	100249752	Human	1	name
156263272	CV2100769	single nucleotide variant	NM_001918.5(DBT):c.251+8A>T	Maple syrup urine disease [RCV002877347]	likely benign	1	100235428	100235428	Human	1	name
156096518	CV2102939	single nucleotide variant	NM_001918.5(DBT):c.175+7A>T	Maple syrup urine disease [RCV002913236]	likely benign	1	100240754	100240754	Human	1	name
156011629	CV2122943	single nucleotide variant	NM_001918.5(DBT):c.940-4A>C	Maple syrup urine disease [RCV002975679]	likely benign\|uncertain significance	1	100210775	100210775	Human	1	name
156223370	CV2144318	single nucleotide variant	NM_001918.5(DBT):c.52-10T>G	Maple syrup urine disease [RCV003007467]	likely benign	1	100240894	100240894	Human	1	name
156183391	CV2167769	single nucleotide variant	NM_001918.5(DBT):c.773-4T>C	Maple syrup urine disease [RCV003023898]	likely benign	1	100214987	100214987	Human	1	name
401738912	CV2738424	single nucleotide variant	NM_001918.5(DBT):c.434-1G>C	Maple syrup urine disease [RCV003317816]	likely pathogenic	1	100218748	100218748	Human	1	name
11591557	CV275553	single nucleotide variant	NM_001918.5(DBT):c.*8977T>C	Maple syrup urine disease [RCV000330044]	benign\|likely benign	1	100187278	100187278	Human	1	name
11655851	CV275554	single nucleotide variant	NM_001918.5(DBT):c.*8642C>G	Maple syrup urine disease [RCV000328998]	uncertain significance	1	100187613	100187613	Human	1	name
11596432	CV275555	single nucleotide variant	NM_001918.5(DBT):c.*8607G>A	Maple syrup urine disease [RCV000382411]	likely benign	1	100187648	100187648	Human	1	name
11597393	CV275556	single nucleotide variant	NM_001918.5(DBT):c.*6646G>T	Maple syrup urine disease [RCV000393871]\|not provided [RCV001718591]	benign\|likely benign	1	100189609	100189609	Human	1	name
11589172	CV275557	single nucleotide variant	NM_001918.5(DBT):c.*6228A>T	Maple syrup urine disease [RCV000308827]\|not provided [RCV001668627]	benign	1	100190027	100190027	Human	1	name
11589099	CV275559	single nucleotide variant	NM_001918.5(DBT):c.*5877G>C	Maple syrup urine disease [RCV000308345]	uncertain significance	1	100190378	100190378	Human	1	name
11587838	CV275560	single nucleotide variant	NM_001918.5(DBT):c.*9082C>T	Maple syrup urine disease [RCV000298307]\|not provided [RCV001594928]	benign\|likely benign	1	100187173	100187173	Human	1	name
11597298	CV275561	single nucleotide variant	NM_001918.5(DBT):c.*9105A>G	Maple syrup urine disease [RCV000392153]	uncertain significance	1	100187150	100187150	Human	1	name
11660575	CV275562	single nucleotide variant	NM_001918.5(DBT):c.*8900A>T	Maple syrup urine disease [RCV000368403]	uncertain significance	1	100187355	100187355	Human	1	name
11634756	CV275563	duplication	NM_001918.5(DBT):c.*8983dup	Maple syrup urine disease [RCV000277312]	likely benign	1	100187271	100187272	Human	1	name
11660688	CV275564	single nucleotide variant	NM_001918.5(DBT):c.*9058C>T	Maple syrup urine disease [RCV000369530]	uncertain significance	1	100187197	100187197	Human	1	name
11644845	CV275565	single nucleotide variant	NM_001918.5(DBT):c.*5561A>G	Maple syrup urine disease [RCV000262250]	uncertain significance	1	100190694	100190694	Human	1	name
11661429	CV275566	single nucleotide variant	NM_001918.5(DBT):c.*8385A>C	Maple syrup urine disease [RCV000376547]	uncertain significance	1	100187870	100187870	Human	1	name
11585909	CV275567	single nucleotide variant	NM_001918.5(DBT):c.*8275A>G	Maple syrup urine disease [RCV000284255]	uncertain significance	1	100187980	100187980	Human	1	name
11584166	CV275568	single nucleotide variant	NM_001918.5(DBT):c.*8734A>C	Maple syrup urine disease [RCV000271655]	uncertain significance	1	100187521	100187521	Human	1	name
11595582	CV275569	single nucleotide variant	NM_001918.5(DBT):c.*5328C>G	Maple syrup urine disease [RCV000372020]	uncertain significance	1	100190927	100190927	Human	1	name
11649121	CV275570	duplication	NM_001918.5(DBT):c.*8554dup	Maple syrup urine disease [RCV000285677]\|not provided [RCV001668626]	benign\|uncertain significance	1	100187700	100187701	Human	1	name
11593715	CV275571	single nucleotide variant	NM_001918.5(DBT):c.*5150A>G	Maple syrup urine disease [RCV000351715]\|not provided [RCV001636848]	benign	1	100191105	100191105	Human	1	name
11592265	CV275572	single nucleotide variant	NM_001918.5(DBT):c.*8226G>T	Maple syrup urine disease [RCV000336916]	uncertain significance	1	100188029	100188029	Human	1	name
11652443	CV275573	deletion	NM_001918.5(DBT):c.*4281del	Maple syrup urine disease [RCV000305152]	uncertain significance	1	100191974	100191974	Human	1	name
11589938	CV275574	single nucleotide variant	NM_001918.5(DBT):c.*6903T>A	Maple syrup urine disease [RCV000314460]\|not provided [RCV001642895]	benign	1	100189352	100189352	Human	1	name
11582360	CV275576	single nucleotide variant	NM_001918.5(DBT):c.*3521G>A	Maple syrup urine disease [RCV000259481]	uncertain significance	1	100192734	100192734	Human	1	name
11662503	CV275577	single nucleotide variant	NM_001918.5(DBT):c.*3201G>A	Maple syrup urine disease [RCV000386838]	uncertain significance	1	100193054	100193054	Human	1	name
11592736	CV275580	deletion	NM_001918.5(DBT):c.*2542del	Maple syrup urine disease [RCV000341774]	uncertain significance	1	100193713	100193713	Human	1	name
11662883	CV275581	single nucleotide variant	NM_001918.5(DBT):c.*2363G>T	Maple syrup urine disease [RCV000390355]	uncertain significance	1	100193892	100193892	Human	1	name
11663820	CV275582	deletion	NM_001918.5(DBT):c.*6903del	Maple syrup urine disease [RCV000399929]\|not provided [RCV001711864]	benign\|uncertain significance	1	100189352	100189352	Human	1	name
11651126	CV275583	single nucleotide variant	NM_001918.5(DBT):c.*2114T>C	Maple syrup urine disease [RCV000297202]	uncertain significance	1	100194141	100194141	Human	1	name
11663061	CV275584	single nucleotide variant	NM_001918.5(DBT):c.*1917C>A	Maple syrup urine disease [RCV000392071]	uncertain significance	1	100194338	100194338	Human	1	name
11584871	CV275585	deletion	NM_001918.5(DBT):c.*1064del	Maple syrup urine disease [RCV000276875]	uncertain significance	1	100195191	100195191	Human	1	name
11595089	CV275586	single nucleotide variant	NM_001918.5(DBT):c.*6901T>A	Maple syrup urine disease [RCV000366733]	uncertain significance	1	100189354	100189354	Human	1	name
11663888	CV275587	single nucleotide variant	NM_001918.5(DBT):c.*8073C>T	Maple syrup urine disease [RCV000400522]	uncertain significance	1	100188182	100188182	Human	1	name
11583731	CV275588	single nucleotide variant	NM_001918.5(DBT):c.*5919A>G	Maple syrup urine disease [RCV000268900]\|not provided [RCV001582913]	benign\|likely benign	1	100190336	100190336	Human	1	name
11654842	CV275590	single nucleotide variant	NM_001918.5(DBT):c.*5638C>T	Maple syrup urine disease [RCV000321221]	uncertain significance	1	100190617	100190617	Human	1	name
11597070	CV275591	single nucleotide variant	NM_001918.5(DBT):c.*4872A>G	Maple syrup urine disease [RCV000389837]	benign\|likely benign	1	100191383	100191383	Human	1	name
11587191	CV275592	single nucleotide variant	NM_001918.5(DBT):c.*4507T>C	Maple syrup urine disease [RCV000293263]	uncertain significance	1	100191748	100191748	Human	1	name
11593577	CV275593	single nucleotide variant	NM_001918.5(DBT):c.*4506A>G	Maple syrup urine disease [RCV000350352]	benign	1	100191749	100191749	Human	1	name
11585124	CV275594	single nucleotide variant	NM_001918.5(DBT):c.*7307G>C	Maple syrup urine disease [RCV000278449]	likely benign\|uncertain significance	1	100188948	100188948	Human	1	name
11594556	CV275596	single nucleotide variant	NM_001918.5(DBT):c.*5875T>G	Maple syrup urine disease [RCV000360673]	uncertain significance	1	100190380	100190380	Human	1	name
11657817	CV275597	single nucleotide variant	NM_001918.5(DBT):c.*4377C>G	Maple syrup urine disease [RCV000344576]	uncertain significance	1	100191878	100191878	Human	1	name
11656684	CV275599	single nucleotide variant	NM_001918.5(DBT):c.*7187G>A	Maple syrup urine disease [RCV000335589]	uncertain significance	1	100189068	100189068	Human	1	name
11663921	CV275600	single nucleotide variant	NM_001918.5(DBT):c.*4321G>T	Maple syrup urine disease [RCV000400604]	uncertain significance	1	100191934	100191934	Human	1	name
11585322	CV275601	single nucleotide variant	NM_001918.5(DBT):c.*5317T>C	Maple syrup urine disease [RCV000280316]\|not provided [RCV001668628]	benign	1	100190938	100190938	Human	1	name
11594177	CV275602	single nucleotide variant	NM_001918.5(DBT):c.*3652G>C	Maple syrup urine disease [RCV000356631]	uncertain significance	1	100192603	100192603	Human	1	name
11657779	CV275604	single nucleotide variant	NM_001918.5(DBT):c.*3135G>A	Maple syrup urine disease [RCV000344259]	uncertain significance	1	100193120	100193120	Human	1	name
11586787	CV275606	single nucleotide variant	NM_001918.5(DBT):c.*2822T>G	Maple syrup urine disease [RCV000290435]	uncertain significance	1	100193433	100193433	Human	1	name
11583691	CV275607	single nucleotide variant	NM_001918.5(DBT):c.*5838G>A	Maple syrup urine disease [RCV000268433]\|not provided [RCV001683166]	benign\|likely benign	1	100190417	100190417	Human	1	name
11596080	CV275608	single nucleotide variant	NM_001918.5(DBT):c.*5591T>C	Maple syrup urine disease [RCV000378262]	uncertain significance	1	100190664	100190664	Human	1	name
11589414	CV275609	single nucleotide variant	NM_001918.5(DBT):c.*4395G>A	Maple syrup urine disease [RCV000310696]\|not provided [RCV001610788]	benign\|likely benign	1	100191860	100191860	Human	1	name
11586265	CV275611	single nucleotide variant	NM_001918.5(DBT):c.*2619G>A	Maple syrup urine disease [RCV000286838]	likely benign\|uncertain significance	1	100193636	100193636	Human	1	name
11583238	CV275612	single nucleotide variant	NM_001918.5(DBT):c.*4124C>A	Maple syrup urine disease [RCV000265179]\|not provided [RCV004691120]	uncertain significance	1	100192131	100192131	Human	1	name
11590508	CV275613	single nucleotide variant	NM_001918.5(DBT):c.*5546G>A	Maple syrup urine disease [RCV000319712]\|not provided [RCV001683167]	benign	1	100190709	100190709	Human	1	name
11590232	CV275619	single nucleotide variant	NM_001918.5(DBT):c.*3461A>G	Maple syrup urine disease [RCV000317021]	uncertain significance	1	100192794	100192794	Human	1	name
11662619	CV275621	single nucleotide variant	NM_001918.5(DBT):c.*3455C>T	Maple syrup urine disease [RCV000387945]	uncertain significance	1	100192800	100192800	Human	1	name
11653598	CV275623	single nucleotide variant	NM_001918.5(DBT):c.*1747A>G	Maple syrup urine disease [RCV000312193]	uncertain significance	1	100194508	100194508	Human	1	name
11598112	CV275624	single nucleotide variant	NM_001918.5(DBT):c.*4446C>G	Maple syrup urine disease [RCV000401538]	uncertain significance	1	100191809	100191809	Human	1	name
11591536	CV275625	single nucleotide variant	NM_001918.5(DBT):c.*3233C>T	Maple syrup urine disease [RCV000329977]\|not provided [RCV001642896]	benign	1	100193022	100193022	Human	1	name
11594287	CV275627	single nucleotide variant	NM_001918.5(DBT):c.*4273C>A	Maple syrup urine disease [RCV000357560]	likely benign\|uncertain significance	1	100191982	100191982	Human	1	name
11649754	CV275628	single nucleotide variant	NM_001918.5(DBT):c.*3187C>G	Maple syrup urine disease [RCV000289311]	uncertain significance	1	100193068	100193068	Human	1	name
11587988	CV275629	deletion	NM_001918.5(DBT):c.*3869del	Maple syrup urine disease [RCV000299423]	likely benign	1	100192386	100192386	Human	1	name
11662285	CV275632	single nucleotide variant	NM_001918.5(DBT):c.*3027A>G	Maple syrup urine disease [RCV000384774]	uncertain significance	1	100193228	100193228	Human	1	name
11594189	CV275633	single nucleotide variant	NM_001918.5(DBT):c.*2074A>C	Maple syrup urine disease [RCV000356728]	uncertain significance	1	100194181	100194181	Human	1	name
11660401	CV275634	duplication	NM_001918.5(DBT):c.*1064dup	Maple syrup urine disease [RCV000366840]	uncertain significance	1	100195190	100195191	Human	1	name
401947141	CV2834004	single nucleotide variant	NM_001918.5(DBT):c.252-2A>T	Maple syrup urine disease [RCV003466103]	likely pathogenic	1	100230916	100230916	Human	1	name
401947142	CV2834005	single nucleotide variant	NM_001918.5(DBT):c.252-2A>G	Maple syrup urine disease [RCV003466104]	likely pathogenic	1	100230916	100230916	Human	1	name
405073938	CV2862868	single nucleotide variant	NM_001918.5(DBT):c.51+11T>C	Maple syrup urine disease [RCV003524023]	likely benign	1	100249759	100249759	Human	1	name
405057198	CV2928850	single nucleotide variant	NM_001918.5(DBT):c.51+18G>T	Maple syrup urine disease [RCV003522665]	likely benign	1	100249752	100249752	Human	1	name
405056582	CV2931817	single nucleotide variant	NM_001918.5(DBT):c.772+2T>G	Maple syrup urine disease [RCV003522615]	likely pathogenic	1	100215981	100215981	Human	1	name
405154171	CV2969165	single nucleotide variant	NM_001918.5(DBT):c.434-4C>T	Maple syrup urine disease [RCV003637067]	likely benign	1	100218751	100218751	Human	1	name
405157795	CV2980314	single nucleotide variant	NM_001918.5(DBT):c.939+7T>C	Maple syrup urine disease [RCV003637363]	likely benign	1	100214810	100214810	Human	1	name
405157220	CV2983321	single nucleotide variant	NM_001918.5(DBT):c.433+8A>G	Maple syrup urine disease [RCV003637317]	likely benign\|uncertain significance	1	100230725	100230725	Human	1	name
405163176	CV2996730	single nucleotide variant	NM_001918.5(DBT):c.772+7A>G	Maple syrup urine disease [RCV003637792]	likely benign	1	100215976	100215976	Human	1	name
405137450	CV3019518	single nucleotide variant	NM_001918.5(DBT):c.940-9G>T	Maple syrup urine disease [RCV003635487]	likely benign	1	100210780	100210780	Human	1	name
405150183	CV3069503	single nucleotide variant	NM_001918.5(DBT):c.772+8T>C	Maple syrup urine disease [RCV003636749]	likely benign	1	100215975	100215975	Human	1	name
405873566	CV3398650	single nucleotide variant	NM_001918.5(DBT):c.176-1G>A	Maple syrup urine disease type 2 [RCV004576126]	likely pathogenic	1	100235512	100235512	Human	1	name
405866537	CV3400259	deletion	NM_001918.5(DBT):c.939+2del	Maple syrup urine disease type 1A [RCV004575764]	likely pathogenic	1	100214815	100214815	Human	1	name
597750599	CV3723884	single nucleotide variant	NM_001918.5(DBT):c.252-1G>A	Maple syrup urine disease type 2 [RCV005015694]	likely pathogenic	1	100230915	100230915	Human	1	name
597890466	CV3749291	single nucleotide variant	NM_001918.5(DBT):c.176-9T>A	Maple syrup urine disease [RCV005071075]	likely benign	1	100235520	100235520	Human	1	name
597834836	CV3831949	single nucleotide variant	NM_001918.5(DBT):c.51+12T>C	Maple syrup urine disease [RCV005170952]	likely benign	1	100249758	100249758	Human	1	name
13785277	CV540641	single nucleotide variant	NM_001918.5(DBT):c.555+1G>A	Maple syrup urine disease type 1A [RCV005430714]	likely pathogenic	1	100218625	100218625	Human	1	name
13790926	CV540643	single nucleotide variant	NM_001918.5(DBT):c.434-1G>A	Maple syrup urine disease [RCV000666893]\|Maple syrup urine disease type 1A [RCV005430451]	likely pathogenic	1	100218748	100218748	Human	2	name
14709262	CV656871	single nucleotide variant	NM_001918.5(DBT):c.556-7T>C	Maple syrup urine disease [RCV001431441]\|not provided [RCV000827386]	likely benign	1	100216206	100216206	Human	1	name
28881953	CV861686	single nucleotide variant	NM_001918.5(DBT):c.*9230T>C	Maple syrup urine disease [RCV001097028]	uncertain significance	1	100187025	100187025	Human	1	name
28881957	CV861687	single nucleotide variant	NM_001918.5(DBT):c.*9228C>T	Maple syrup urine disease [RCV001097029]	uncertain significance	1	100187027	100187027	Human	1	name
28887409	CV861688	single nucleotide variant	NM_001918.5(DBT):c.*9123A>G	Maple syrup urine disease [RCV001098763]	uncertain significance	1	100187132	100187132	Human	1	name
28887417	CV861689	single nucleotide variant	NM_001918.5(DBT):c.*8944A>G	Maple syrup urine disease [RCV001098764]\|not provided [RCV004715377]	benign	1	100187311	100187311	Human	1	name
28887421	CV861690	single nucleotide variant	NM_001918.5(DBT):c.*8830T>C	Maple syrup urine disease [RCV001098765]	uncertain significance	1	100187425	100187425	Human	1	name
28892497	CV861691	single nucleotide variant	NM_001918.5(DBT):c.*8670A>G	Maple syrup urine disease [RCV001100594]	uncertain significance	1	100187585	100187585	Human	1	name
28892500	CV861692	single nucleotide variant	NM_001918.5(DBT):c.*8663T>C	Maple syrup urine disease [RCV001100595]	uncertain significance	1	100187592	100187592	Human	1	name
28892503	CV861693	single nucleotide variant	NM_001918.5(DBT):c.*8552A>T	Maple syrup urine disease [RCV001100596]\|not provided [RCV001664686]	likely benign	1	100187703	100187703	Human	1	name
28892505	CV861694	single nucleotide variant	NM_001918.5(DBT):c.*8471T>C	Maple syrup urine disease [RCV001100597]	uncertain significance	1	100187784	100187784	Human	1	name
28893198	CV861695	single nucleotide variant	NM_001918.5(DBT):c.*8118T>C	Maple syrup urine disease [RCV001100870]	uncertain significance	1	100188137	100188137	Human	1	name
28893202	CV861696	single nucleotide variant	NM_001918.5(DBT):c.*8083C>T	Maple syrup urine disease [RCV001100871]	uncertain significance	1	100188172	100188172	Human	1	name
28893207	CV861697	single nucleotide variant	NM_001918.5(DBT):c.*8080C>G	Maple syrup urine disease [RCV001100872]	uncertain significance	1	100188175	100188175	Human	1	name
28893211	CV861698	single nucleotide variant	NM_001918.5(DBT):c.*8074G>A	Maple syrup urine disease [RCV001100873]	uncertain significance	1	100188181	100188181	Human	1	name
28893215	CV861699	single nucleotide variant	NM_001918.5(DBT):c.*7942G>A	Maple syrup urine disease [RCV001100874]	uncertain significance	1	100188313	100188313	Human	1	name
28882229	CV861700	single nucleotide variant	NM_001918.5(DBT):c.*7698C>T	Maple syrup urine disease [RCV001097121]	likely benign	1	100188557	100188557	Human	1	name
28882232	CV861701	single nucleotide variant	NM_001918.5(DBT):c.*7690T>C	Maple syrup urine disease [RCV001097122]	uncertain significance	1	100188565	100188565	Human	1	name
28882235	CV861702	single nucleotide variant	NM_001918.5(DBT):c.*7469T>C	Maple syrup urine disease [RCV001097123]	uncertain significance	1	100188786	100188786	Human	1	name
28882241	CV861703	single nucleotide variant	NM_001918.5(DBT):c.*7369G>A	Maple syrup urine disease [RCV001097124]	uncertain significance	1	100188886	100188886	Human	1	name
28882243	CV861704	single nucleotide variant	NM_001918.5(DBT):c.*7358C>T	Maple syrup urine disease [RCV001097125]	benign	1	100188897	100188897	Human	1	name
28882248	CV861705	single nucleotide variant	NM_001918.5(DBT):c.*7223C>T	Maple syrup urine disease [RCV001097126]	uncertain significance	1	100189032	100189032	Human	1	name
28887758	CV861706	single nucleotide variant	NM_001918.5(DBT):c.*6902T>A	Maple syrup urine disease [RCV001098874]\|not provided [RCV004691356]	uncertain significance	1	100189353	100189353	Human	1	name
28887762	CV861707	single nucleotide variant	NM_001918.5(DBT):c.*6771A>G	Maple syrup urine disease [RCV001098875]	uncertain significance	1	100189484	100189484	Human	1	name
28887766	CV861708	single nucleotide variant	NM_001918.5(DBT):c.*6771A>C	Maple syrup urine disease [RCV001098876]	uncertain significance	1	100189484	100189484	Human	1	name
28887770	CV861709	single nucleotide variant	NM_001918.5(DBT):c.*6716C>G	Maple syrup urine disease [RCV001098877]	likely benign	1	100189539	100189539	Human	1	name
28887774	CV861710	single nucleotide variant	NM_001918.5(DBT):c.*6413C>T	Maple syrup urine disease [RCV001098878]	uncertain significance	1	100189842	100189842	Human	1	name
28892728	CV861711	single nucleotide variant	NM_001918.5(DBT):c.*6270A>G	Maple syrup urine disease [RCV001100689]	uncertain significance	1	100189985	100189985	Human	1	name
28892732	CV861712	single nucleotide variant	NM_001918.5(DBT):c.*5969C>T	Maple syrup urine disease [RCV001100690]	likely benign	1	100190286	100190286	Human	1	name
28892736	CV861713	single nucleotide variant	NM_001918.5(DBT):c.*5959A>G	Maple syrup urine disease [RCV001100691]	uncertain significance	1	100190296	100190296	Human	1	name
28893428	CV861714	single nucleotide variant	NM_001918.5(DBT):c.*5784T>C	Maple syrup urine disease [RCV001100960]	uncertain significance	1	100190471	100190471	Human	1	name
28893430	CV861715	single nucleotide variant	NM_001918.5(DBT):c.*5380G>C	Maple syrup urine disease [RCV001100961]	uncertain significance	1	100190875	100190875	Human	1	name
28893434	CV861716	single nucleotide variant	NM_001918.5(DBT):c.*5347C>T	Maple syrup urine disease [RCV001100962]	benign	1	100190908	100190908	Human	1	name
28882586	CV861717	single nucleotide variant	NM_001918.5(DBT):c.*4864C>T	Maple syrup urine disease [RCV001097222]	uncertain significance	1	100191391	100191391	Human	1	name
28882590	CV861718	single nucleotide variant	NM_001918.5(DBT):c.*4688G>T	Maple syrup urine disease [RCV001097223]	uncertain significance	1	100191567	100191567	Human	1	name
28882595	CV861719	single nucleotide variant	NM_001918.5(DBT):c.*4576G>C	Maple syrup urine disease [RCV001097224]	uncertain significance	1	100191679	100191679	Human	1	name
28888074	CV861720	single nucleotide variant	NM_001918.5(DBT):c.*4576G>A	Maple syrup urine disease [RCV001098979]	uncertain significance	1	100191679	100191679	Human	1	name
28888076	CV861721	single nucleotide variant	NM_001918.5(DBT):c.*4425C>A	Maple syrup urine disease [RCV001098980]	uncertain significance	1	100191830	100191830	Human	1	name
28892985	CV861722	single nucleotide variant	NM_001918.5(DBT):c.*4313G>A	Maple syrup urine disease [RCV001100787]	uncertain significance	1	100191942	100191942	Human	1	name
28892990	CV861723	single nucleotide variant	NM_001918.5(DBT):c.*4291C>A	Maple syrup urine disease [RCV001100788]	uncertain significance	1	100191964	100191964	Human	1	name
28892992	CV861724	single nucleotide variant	NM_001918.5(DBT):c.*4250C>T	Maple syrup urine disease [RCV001100789]	uncertain significance	1	100192005	100192005	Human	1	name
28892995	CV861725	single nucleotide variant	NM_001918.5(DBT):c.*4237A>C	Maple syrup urine disease [RCV001100790]	uncertain significance	1	100192018	100192018	Human	1	name
28893000	CV861726	single nucleotide variant	NM_001918.5(DBT):c.*4094C>A	Maple syrup urine disease [RCV001100791]	benign	1	100192161	100192161	Human	1	name
28893003	CV861727	single nucleotide variant	NM_001918.5(DBT):c.*3995G>T	Maple syrup urine disease [RCV001100792]	uncertain significance	1	100192260	100192260	Human	1	name
28893619	CV861728	single nucleotide variant	NM_001918.5(DBT):c.*3859T>C	Maple syrup urine disease [RCV001101046]	uncertain significance	1	100192396	100192396	Human	1	name
28893623	CV861729	single nucleotide variant	NM_001918.5(DBT):c.*3789A>C	Maple syrup urine disease [RCV001101047]	uncertain significance	1	100192466	100192466	Human	1	name
28893627	CV861730	single nucleotide variant	NM_001918.5(DBT):c.*3693C>G	Maple syrup urine disease [RCV001101048]	uncertain significance	1	100192562	100192562	Human	1	name
28893630	CV861731	single nucleotide variant	NM_001918.5(DBT):c.*3586A>G	Maple syrup urine disease [RCV001101049]	uncertain significance	1	100192669	100192669	Human	1	name
28882898	CV861732	single nucleotide variant	NM_001918.5(DBT):c.*3245G>A	Maple syrup urine disease [RCV001097318]	uncertain significance	1	100193010	100193010	Human	1	name
28882903	CV861733	single nucleotide variant	NM_001918.5(DBT):c.*3240T>A	Maple syrup urine disease [RCV001097319]	uncertain significance	1	100193015	100193015	Human	1	name
28888332	CV861734	single nucleotide variant	NM_001918.5(DBT):c.*3022G>A	Maple syrup urine disease [RCV001099066]	uncertain significance	1	100193233	100193233	Human	1	name
28888335	CV861735	single nucleotide variant	NM_001918.5(DBT):c.*2851C>T	Maple syrup urine disease [RCV001099067]	uncertain significance	1	100193404	100193404	Human	1	name
28888340	CV861736	single nucleotide variant	NM_001918.5(DBT):c.*2810A>G	Maple syrup urine disease [RCV001099068]	benign	1	100193445	100193445	Human	1	name
28888345	CV861737	single nucleotide variant	NM_001918.5(DBT):c.*2271A>C	Maple syrup urine disease [RCV001099069]	uncertain significance	1	100193984	100193984	Human	1	name
28888351	CV861738	single nucleotide variant	NM_001918.5(DBT):c.*2213T>C	Maple syrup urine disease [RCV001099070]	uncertain significance	1	100194042	100194042	Human	1	name
28888606	CV861739	single nucleotide variant	NM_001918.5(DBT):c.*2130G>A	Maple syrup urine disease [RCV001099150]	uncertain significance	1	100194125	100194125	Human	1	name
28888612	CV861740	single nucleotide variant	NM_001918.5(DBT):c.*2119G>A	Maple syrup urine disease [RCV001099151]	uncertain significance	1	100194136	100194136	Human	1	name
28888617	CV861741	single nucleotide variant	NM_001918.5(DBT):c.*2092A>T	Maple syrup urine disease [RCV001099152]	uncertain significance	1	100194163	100194163	Human	1	name
28888622	CV861742	single nucleotide variant	NM_001918.5(DBT):c.*2088A>T	Maple syrup urine disease [RCV001099153]	uncertain significance	1	100194167	100194167	Human	1	name
28888628	CV861743	single nucleotide variant	NM_001918.5(DBT):c.*2021C>T	Maple syrup urine disease [RCV001099154]	uncertain significance	1	100194234	100194234	Human	1	name
28893831	CV861744	single nucleotide variant	NM_001918.5(DBT):c.*1640C>T	Maple syrup urine disease [RCV001101144]	uncertain significance	1	100194615	100194615	Human	1	name
28893835	CV861745	single nucleotide variant	NM_001918.5(DBT):c.*1572A>G	Maple syrup urine disease [RCV001101145]	uncertain significance	1	100194683	100194683	Human	1	name
28893838	CV861746	single nucleotide variant	NM_001918.5(DBT):c.*1332T>C	Maple syrup urine disease [RCV001101146]	uncertain significance	1	100194923	100194923	Human	1	name
28893840	CV861747	single nucleotide variant	NM_001918.5(DBT):c.*1322C>T	Maple syrup urine disease [RCV001101147]	uncertain significance	1	100194933	100194933	Human	1	name
8640921	CV99907	single nucleotide variant	NM_001918.5(DBT):c.52-27T>A	not provided [RCV000079947]	uncertain significance	1	100240911	100240911	Human		name
8640930	CV99916	single nucleotide variant	NM_001918.5(DBT):c.773-2A>G	Maple syrup urine disease type 2 [RCV004527311]\|not provided [RCV000179838]	pathogenic	1	100214985	100214985	Human	1	name
127253929	CV1054721	single nucleotide variant	NM_001918.5(DBT):c.1281+1G>C	Maple syrup urine disease [RCV001379050]	likely pathogenic	1	100206229	100206229	Human	1	name
127271437	CV1058365	single nucleotide variant	NM_001918.5(DBT):c.1281+2T>A	Maple syrup urine disease [RCV001390159]	pathogenic	1	100206228	100206228	Human	1	name
127269856	CV1065924	single nucleotide variant	NM_001918.5(DBT):c.1018-9A>G	Maple syrup urine disease [RCV001404820]	likely benign	1	100206645	100206645	Human	1	name
127278808	CV1065927	single nucleotide variant	NM_001918.5(DBT):c.773-17A>C	Maple syrup urine disease [RCV001408727]	likely benign	1	100215000	100215000	Human	1	name
127260853	CV1087687	single nucleotide variant	NM_001918.5(DBT):c.1017+8A>G	Maple syrup urine disease [RCV001427968]\|not provided [RCV004711619]	likely benign	1	100210686	100210686	Human	1	name
127250875	CV1087696	single nucleotide variant	NM_001918.5(DBT):c.433+10G>C	Maple syrup urine disease [RCV001425459]	likely benign	1	100230723	100230723	Human	1	name
127296631	CV1109182	single nucleotide variant	NM_001918.5(DBT):c.940-10T>C	Maple syrup urine disease [RCV001452784]	likely benign	1	100210781	100210781	Human	1	name
127326181	CV1130089	single nucleotide variant	NM_001918.5(DBT):c.1282-4C>T	Maple syrup urine disease [RCV001506203]	likely benign	1	100196426	100196426	Human	1	name
127309497	CV1153146	deletion	NM_001918.5(DBT):c.1018-3del	Maple syrup urine disease [RCV001517895]	benign	1	100206639	100206639	Human	1	name
150409145	CV1175707	single nucleotide variant	NM_001918.5(DBT):c.555+96A>G	not provided [RCV001546146]	likely benign	1	100218530	100218530	Human		name
150411245	CV1189432	single nucleotide variant	NM_001918.5(DBT):c.51+185A>G	not provided [RCV001566475]	likely benign	1	100249585	100249585	Human		name
150485761	CV1280828	duplication	NM_001918.5(DBT):c.773-68dup	not provided [RCV001715662]	benign	1	100215037	100215038	Human		name
150485766	CV1280829	duplication	NM_001918.5(DBT):c.433+92dup	not provided [RCV001715663]	benign	1	100230629	100230630	Human		name
150531419	CV1291186	single nucleotide variant	NM_001918.5(DBT):c.51+202G>C	not provided [RCV001733057]	likely benign	1	100249568	100249568	Human		name
152124357	CV1527660	single nucleotide variant	NM_001918.5(DBT):c.1282-8A>G	Maple syrup urine disease [RCV002082003]	likely benign	1	100196430	100196430	Human	1	name
152084549	CV1533520	single nucleotide variant	NM_001918.5(DBT):c.940-18T>G	Maple syrup urine disease [RCV002093296]	likely benign	1	100210789	100210789	Human	1	name
152170739	CV1536492	single nucleotide variant	NM_001918.5(DBT):c.939+10A>G	Maple syrup urine disease [RCV002183258]	likely benign	1	100214807	100214807	Human	1	name
152173711	CV1539790	single nucleotide variant	NM_001918.5(DBT):c.1018-7T>G	Maple syrup urine disease [RCV002162899]	likely benign	1	100206643	100206643	Human	1	name
152063556	CV1554421	deletion	NM_001918.5(DBT):c.1018-9del	Maple syrup urine disease [RCV002190825]	likely benign	1	100206645	100206645	Human	1	name
152132861	CV1585153	single nucleotide variant	NM_001918.5(DBT):c.176-15C>A	Maple syrup urine disease [RCV002083105]	likely benign	1	100235526	100235526	Human	1	name
152147844	CV1623657	single nucleotide variant	NM_001918.5(DBT):c.1017+9T>C	Maple syrup urine disease [RCV002157707]	likely benign	1	100210685	100210685	Human	1	name
9688645	CV177667	deletion	NM_001918.5(DBT):c.1210-4del	Maple syrup urine disease [RCV000545442]\|Maple syrup urine disease type 1A [RCV003654211]\|not specified [RCV000153136]	benign	1	100206305	100206305	Human	2	name
156440629	CV1943683	single nucleotide variant	NM_001918.5(DBT):c.1282-7T>C	Maple syrup urine disease [RCV003110665]	likely benign	1	100196429	100196429	Human	1	name
156415353	CV1958306	single nucleotide variant	NM_001918.5(DBT):c.1210-3T>A	Maple syrup urine disease [RCV002589118]\|Maple syrup urine disease type 1A [RCV005254111]\|not provided [RCV005001311]	uncertain significance	1	100206304	100206304	Human	2	name
156009115	CV1981588	single nucleotide variant	NM_001918.5(DBT):c.1210-1G>C	Maple syrup urine disease [RCV002618811]	likely pathogenic	1	100206302	100206302	Human	1	name
156113125	CV2065447	single nucleotide variant	NM_001918.5(DBT):c.175+10A>G	Maple syrup urine disease [RCV002870976]	likely benign	1	100240751	100240751	Human	1	name
156094208	CV2183417	single nucleotide variant	NM_001918.5(DBT):c.1281+9A>G	Maple syrup urine disease [RCV003054472]	likely benign	1	100206221	100206221	Human	1	name
243056381	CV2418722	single nucleotide variant	NM_001918.5(DBT):c.1281+4C>G	not specified [RCV003155689]	uncertain significance	1	100206226	100206226	Human		name
8562823	CV26984	deletion	NM_001918.5(DBT):c.1017+1del	Maple syrup urine disease type 2 [RCV000012723]	pathogenic	1	100210693	100210693	Human	1	name
405071857	CV2858524	single nucleotide variant	NM_001918.5(DBT):c.772+11T>C	Maple syrup urine disease [RCV003523881]	likely benign	1	100215972	100215972	Human	1	name
404990098	CV2886469	single nucleotide variant	NM_001918.5(DBT):c.434-14T>C	Maple syrup urine disease [RCV003524964]	likely benign	1	100218761	100218761	Human	1	name
405067224	CV2896348	duplication	NM_001918.5(DBT):c.1282-9dup	Maple syrup urine disease [RCV003523586]	likely benign	1	100196430	100196431	Human	1	name
405068488	CV2896678	single nucleotide variant	NM_001918.5(DBT):c.251+18A>G	Maple syrup urine disease [RCV003523650]	likely benign	1	100235418	100235418	Human	1	name
405068629	CV2896853	single nucleotide variant	NM_001918.5(DBT):c.252-12T>G	Maple syrup urine disease [RCV003523658]	likely benign	1	100230926	100230926	Human	1	name
405064718	CV2899348	single nucleotide variant	NM_001918.5(DBT):c.251+17A>G	Maple syrup urine disease [RCV003523401]	likely benign	1	100235419	100235419	Human	1	name
405069170	CV2900951	single nucleotide variant	NM_001918.5(DBT):c.939+13C>G	Maple syrup urine disease [RCV003523696]	likely benign	1	100214804	100214804	Human	1	name
404993150	CV2905021	single nucleotide variant	NM_001918.5(DBT):c.434-17T>G	Maple syrup urine disease [RCV003525303]	likely benign	1	100218764	100218764	Human	1	name
405058692	CV2923235	single nucleotide variant	NM_001918.5(DBT):c.1018-2A>T	Maple syrup urine disease [RCV003522766]	likely pathogenic	1	100206638	100206638	Human	1	name
404987664	CV2924699	single nucleotide variant	NM_001918.5(DBT):c.176-15C>G	Maple syrup urine disease [RCV003524710]	likely benign	1	100235526	100235526	Human	1	name
405143461	CV2947966	single nucleotide variant	NM_001918.5(DBT):c.434-11C>T	Maple syrup urine disease [RCV003636147]	likely benign	1	100218758	100218758	Human	1	name
405157130	CV2986735	single nucleotide variant	NM_001918.5(DBT):c.433+17A>C	Maple syrup urine disease [RCV003637309]	likely benign	1	100230716	100230716	Human	1	name
405162809	CV2992126	single nucleotide variant	NM_001918.5(DBT):c.175+16A>G	Maple syrup urine disease [RCV003637713]	likely benign	1	100240745	100240745	Human	1	name
405161059	CV2994382	single nucleotide variant	NM_001918.5(DBT):c.1017+1G>T	Maple syrup urine disease [RCV003637627]	likely pathogenic	1	100210693	100210693	Human	1	name
405162624	CV3002424	single nucleotide variant	NM_001918.5(DBT):c.1017+1G>A	Maple syrup urine disease [RCV003637726]	likely pathogenic	1	100210693	100210693	Human	1	name
405165852	CV3013444	single nucleotide variant	NM_001918.5(DBT):c.1209+9T>C	Maple syrup urine disease [RCV003638049]	likely benign	1	100206436	100206436	Human	1	name
405137087	CV3018090	single nucleotide variant	NM_001918.5(DBT):c.1018-4T>C	Maple syrup urine disease [RCV003635421]	likely benign	1	100206640	100206640	Human	1	name
405137494	CV3029818	single nucleotide variant	NM_001918.5(DBT):c.556-12A>G	Maple syrup urine disease [RCV003635491]	likely benign	1	100216211	100216211	Human	1	name
405140226	CV3037203	single nucleotide variant	NM_001918.5(DBT):c.940-17C>A	Maple syrup urine disease [RCV003635762]	likely benign	1	100210788	100210788	Human	1	name
405148179	CV3057066	single nucleotide variant	NM_001918.5(DBT):c.433+13T>G	Maple syrup urine disease [RCV003636573]	likely benign	1	100230720	100230720	Human	1	name
405148500	CV3057481	single nucleotide variant	NM_001918.5(DBT):c.772+17C>G	Maple syrup urine disease [RCV003636601]	likely benign	1	100215966	100215966	Human	1	name
405149623	CV3058696	single nucleotide variant	NM_001918.5(DBT):c.251+15A>G	Maple syrup urine disease [RCV003636700]	likely benign	1	100235421	100235421	Human	1	name
405151342	CV3078484	single nucleotide variant	NM_001918.5(DBT):c.176-15C>T	Maple syrup urine disease [RCV003636850]	likely benign	1	100235526	100235526	Human	1	name
405062999	CV3139609	single nucleotide variant	NM_001918.5(DBT):c.556-14A>G	Maple syrup urine disease [RCV003832956]	likely benign	1	100216213	100216213	Human	1	name
405237588	CV3169171	single nucleotide variant	NM_001918.5(DBT):c.773-14T>G	Maple syrup urine disease [RCV003866450]	likely benign	1	100214997	100214997	Human	1	name
405255408	CV3176119	single nucleotide variant	NM_001918.5(DBT):c.772+19A>G	Maple syrup urine disease [RCV003872203]	likely benign	1	100215964	100215964	Human	1	name
405259664	CV3195106	single nucleotide variant	NM_001918.5(DBT):c.1282-8A>C	DBT-related disorder [RCV003894303]	likely benign	1	100196430	100196430	Human		name , trait , alternate_id
405854643	CV3392514	single nucleotide variant	NM_001918.5(DBT):c.1281+3A>G	Maple syrup urine disease type 2 [RCV004527534]	uncertain significance	1	100206227	100206227	Human	1	name
12837264	CV364281	single nucleotide variant	NM_001918.5(DBT):c.433+18A>G	not specified [RCV000424863]	likely benign	1	100230715	100230715	Human		name
12843063	CV364287	single nucleotide variant	NM_001918.5(DBT):c.252-13C>G	not specified [RCV000435558]	likely benign	1	100230927	100230927	Human		name
597685200	CV3726751	single nucleotide variant	NM_001918.5(DBT):c.1282-1G>A	Maple syrup urine disease type 2 [RCV005006809]	likely pathogenic	1	100196423	100196423	Human	1	name
597705103	CV3726811	single nucleotide variant	NM_001918.5(DBT):c.1281+1G>A	Maple syrup urine disease [RCV005112549]\|Maple syrup urine disease type 2 [RCV005009156]	pathogenic\|likely pathogenic	1	100206229	100206229	Human	2	name
597946025	CV3790029	single nucleotide variant	NM_001918.5(DBT):c.773-20A>G	Maple syrup urine disease [RCV005134730]	likely benign	1	100215003	100215003	Human	1	name
597948430	CV3818315	single nucleotide variant	NM_001918.5(DBT):c.772+16A>G	Maple syrup urine disease [RCV005160576]	likely benign	1	100215967	100215967	Human	1	name
597889810	CV3839647	single nucleotide variant	NM_001918.5(DBT):c.251+20G>A	Maple syrup urine disease [RCV005179539]	likely benign	1	100235416	100235416	Human	1	name
597954776	CV3844506	single nucleotide variant	NM_001918.5(DBT):c.939+20A>G	Maple syrup urine disease [RCV005191180]	likely benign	1	100214797	100214797	Human	1	name
13493148	CV446935	duplication	NM_001918.5(DBT):c.1210-4dup	Maple syrup urine disease [RCV000557972]	benign\|uncertain significance	1	100206304	100206305	Human	1	name
13539605	CV497915	single nucleotide variant	NM_001918.5(DBT):c.1210-8A>T	Maple syrup urine disease [RCV000910455]\|not provided [RCV001704808]	benign\|likely benign	1	100206309	100206309	Human	1	name
14396496	CV612341	single nucleotide variant	NM_001918.5(DBT):c.1281+1G>T	Maple syrup urine disease [RCV004798867]\|Maple syrup urine disease type 1A [RCV004577341]	pathogenic\|likely pathogenic	1	100206229	100206229	Human	2	name
15149377	CV743646	single nucleotide variant	NM_001918.5(DBT):c.1282-4C>A	Maple syrup urine disease [RCV000900921]\|not provided [RCV001701244]	likely benign	1	100196426	100196426	Human	1	name
15099459	CV758786	single nucleotide variant	NM_001918.5(DBT):c.1282-9C>A	Maple syrup urine disease [RCV000914457]	likely benign	1	100196431	100196431	Human	1	name
15127044	CV786967	single nucleotide variant	NM_001918.5(DBT):c.433+10G>A	Maple syrup urine disease [RCV000980481]	likely benign	1	100230723	100230723	Human	1	name
15108290	CV786975	deletion	NM_001918.5(DBT):c.176-10del	Maple syrup urine disease [RCV002066460]	likely benign	1	100235521	100235521	Human	1	name
38493074	CV960395	single nucleotide variant	NM_001918.5(DBT):c.1281+5A>G	DBT-related disorder [RCV003973159]\|Inborn genetic diseases [RCV002563975]\|Maple syrup urine disease [RCV001240490]\|not specified [RCV003398997]	likely benign\|uncertain significance	1	100206225	100206225	Human	3	name , trait , alternate_id
39456574	CV965751	single nucleotide variant	NM_001918.5(DBT):c.1209+1G>A	Maple syrup urine disease [RCV001255380]	pathogenic	1	100206444	100206444	Human	1	name
8640903	CV99889	single nucleotide variant	NM_001918.5(DBT):c.1210-9A>T	Maple syrup urine disease [RCV000370215]\|not provided [RCV004714406]\|not specified [RCV000079929]	benign	1	100206310	100206310	Human	1	name
8640906	CV99892	single nucleotide variant	NM_001918.5(DBT):c.1281+6T>G	Maple syrup urine disease [RCV000315422]\|not provided [RCV000224461]\|not specified [RCV000079932]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100206224	100206224	Human	1	name
8640912	CV99898	single nucleotide variant	NM_001918.5(DBT):c.175+37G>A	Maple syrup urine disease [RCV003343635]\|not provided [RCV001548287]\|not specified [RCV000079938]	benign\|likely benign	1	100240724	100240724	Human	1	name
8640914	CV99900	duplication	NM_001918.5(DBT):c.251+19dup	Maple syrup urine disease [RCV001518252]\|Maple syrup urine disease type 1A [RCV003654197]\|not specified [RCV000079940]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100235416	100235417	Human	2	name
127315969	CV1130090	single nucleotide variant	NM_001918.5(DBT):c.1281+10T>C	Maple syrup urine disease [RCV001502881]	likely benign	1	100206220	100206220	Human	1	name
150409882	CV1189431	single nucleotide variant	NM_001918.5(DBT):c.251+105A>T	not provided [RCV001565814]	likely benign	1	100235331	100235331	Human		name
150406955	CV1192656	single nucleotide variant	NM_001918.5(DBT):c.175+312T>C	not provided [RCV001572188]	likely benign	1	100240449	100240449	Human		name
150509097	CV1214213	single nucleotide variant	NM_001918.5(DBT):c.251+197T>C	not provided [RCV001596734]	benign	1	100235239	100235239	Human		name
150474467	CV1217806	duplication	NM_001918.5(DBT):c.434-196dup	not provided [RCV001615817]	benign	1	100218932	100218933	Human		name
150516983	CV1227422	single nucleotide variant	NM_001918.5(DBT):c.773-232T>A	not provided [RCV001639523]	benign	1	100215215	100215215	Human		name
150439623	CV1266799	single nucleotide variant	NM_001918.5(DBT):c.434-284T>G	not provided [RCV001690234]	benign	1	100219031	100219031	Human		name
150480645	CV1279542	deletion	NM_001918.5(DBT):c.434-186del	not provided [RCV001714689]	benign	1	100218933	100218933	Human		name
152145981	CV1549434	single nucleotide variant	NM_001918.5(DBT):c.1282-13T>A	DBT-related disorder [RCV003933528]\|Maple syrup urine disease [RCV002101476]	likely benign	1	100196435	100196435	Human	2	name , trait , alternate_id
152093700	CV1584942	duplication	NM_001918.5(DBT):c.1018-10dup	Maple syrup urine disease [RCV002114419]	benign	1	100206645	100206646	Human	1	name
152105688	CV1591493	single nucleotide variant	NM_001918.5(DBT):c.1282-15T>A	DBT-related disorder [RCV003911294]\|Maple syrup urine disease [RCV002214775]	likely benign	1	100196437	100196437	Human	2	name , trait , alternate_id
152034871	CV1603993	single nucleotide variant	NM_001918.5(DBT):c.1018-10T>A	Maple syrup urine disease [RCV002087046]	likely benign	1	100206646	100206646	Human	1	name
152135874	CV1624643	single nucleotide variant	NM_001918.5(DBT):c.1282-14T>A	DBT-related disorder [RCV003911226]\|Maple syrup urine disease [RCV002177410]	likely benign	1	100196436	100196436	Human	2	name , trait , alternate_id
10049692	CV190799	duplication	NM_001918.5(DBT):c.1210-10dup	Maple syrup urine disease [RCV000402009]\|not provided [RCV000173751]	conflicting interpretations of pathogenicity\|uncertain significance	1	100206310	100206311	Human	1	name
156101018	CV2001078	single nucleotide variant	NM_001918.5(DBT):c.1017+10G>A	Maple syrup urine disease [RCV002639582]	likely benign	1	100210684	100210684	Human	1	name
156390383	CV2122429	single nucleotide variant	NM_001918.5(DBT):c.1282-19T>C	Maple syrup urine disease [RCV002943838]	likely benign	1	100196441	100196441	Human	1	name
11581352	CV275641	single nucleotide variant	NM_001918.5(DBT):c.1210-11T>A	Maple syrup urine disease [RCV000366487]	benign\|likely benign\|uncertain significance	1	100206312	100206312	Human	1	name
405075799	CV2870693	single nucleotide variant	NM_001918.5(DBT):c.1282-20T>C	Maple syrup urine disease [RCV003524149]	likely benign	1	100196442	100196442	Human	1	name
404990079	CV2886413	single nucleotide variant	NM_001918.5(DBT):c.1018-16A>T	Maple syrup urine disease [RCV003524962]	likely benign	1	100206652	100206652	Human	1	name
404992055	CV2887413	single nucleotide variant	NM_001918.5(DBT):c.1282-16T>A	DBT-related disorder [RCV003966523]\|Maple syrup urine disease [RCV003525170]	likely benign	1	100196438	100196438	Human	2	name , trait , alternate_id
405146156	CV2955718	single nucleotide variant	NM_001918.5(DBT):c.1281+13G>A	Maple syrup urine disease [RCV003636388]	likely benign	1	100206217	100206217	Human	1	name
405155800	CV2984779	single nucleotide variant	NM_001918.5(DBT):c.1017+11C>G	Maple syrup urine disease [RCV003637196]	likely benign	1	100210683	100210683	Human	1	name
405155840	CV2985002	single nucleotide variant	NM_001918.5(DBT):c.1210-12T>G	Maple syrup urine disease [RCV003637199]	likely benign	1	100206313	100206313	Human	1	name
405139445	CV3038471	single nucleotide variant	NM_001918.5(DBT):c.1018-15T>C	Maple syrup urine disease [RCV003635687]	likely benign	1	100206651	100206651	Human	1	name
405140613	CV3046338	single nucleotide variant	NM_001918.5(DBT):c.1282-16T>C	Maple syrup urine disease [RCV003635798]	likely benign	1	100196438	100196438	Human	1	name
405148441	CV3060618	single nucleotide variant	NM_001918.5(DBT):c.1281+18C>T	Maple syrup urine disease [RCV003636596]	likely benign	1	100206212	100206212	Human	1	name
405148839	CV3060781	single nucleotide variant	NM_001918.5(DBT):c.1017+16T>A	Maple syrup urine disease [RCV003636629]	likely benign	1	100210678	100210678	Human	1	name
405160323	CV3072240	single nucleotide variant	NM_001918.5(DBT):c.1282-18T>C	Maple syrup urine disease [RCV003637563]	likely benign	1	100196440	100196440	Human	1	name
405083470	CV3137586	single nucleotide variant	NM_001918.5(DBT):c.1018-17A>G	Maple syrup urine disease [RCV003834295]	likely benign	1	100206653	100206653	Human	1	name
405168047	CV3156881	single nucleotide variant	NM_001918.5(DBT):c.1210-12T>A	Maple syrup urine disease [RCV003857585]	likely benign	1	100206313	100206313	Human	1	name
404992582	CV3176351	single nucleotide variant	NM_001918.5(DBT):c.1017+15G>A	Maple syrup urine disease [RCV003881783]	likely benign	1	100210679	100210679	Human	1	name
404993520	CV3176399	single nucleotide variant	NM_001918.5(DBT):c.1282-13T>C	Maple syrup urine disease [RCV003881831]	likely benign	1	100196435	100196435	Human	1	name
408379084	CV3515940	deletion	NM_001918.5(DBT):c.1282-10del	DBT-related disorder [RCV004752577]	likely benign	1	100196432	100196432	Human		name , trait , alternate_id
13436061	CV433480	deletion	NM_001918.5(DBT):c.1210-10del	Maple syrup urine disease [RCV000625322]\|Maple syrup urine disease type 1A [RCV003654413]\|not provided [RCV001662505]\|not specified [RCV000506498]	benign	1	100206311	100206311	Human	2	name
13535567	CV497914	single nucleotide variant	NM_001918.5(DBT):c.1209+17A>C	not specified [RCV000607865]	likely benign	1	100206428	100206428	Human		name
14742006	CV656835	single nucleotide variant	NM_001918.5(DBT):c.555+276C>A	not provided [RCV000841078]	benign	1	100218350	100218350	Human		name
14742005	CV656873	single nucleotide variant	NM_001918.5(DBT):c.433+300T>G	not provided [RCV000841077]	benign	1	100230433	100230433	Human		name
8640901	CV99887	single nucleotide variant	NM_001918.5(DBT):c.1210-10T>A	Maple syrup urine disease [RCV000307134]\|not provided [RCV004713229]\|not specified [RCV000079927]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100206311	100206311	Human	1	name
8640905	CV99891	single nucleotide variant	NM_001918.5(DBT):c.1281+31T>G	Maple syrup urine disease [RCV003343634]\|not provided [RCV001555184]\|not specified [RCV000079931]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100206199	100206199	Human	1	name
150415351	CV1175705	single nucleotide variant	NM_001918.5(DBT):c.1281+248G>A	not provided [RCV001548536]	likely benign	1	100205982	100205982	Human		name
150405645	CV1175706	single nucleotide variant	NM_001918.5(DBT):c.1018-743G>A	not provided [RCV001544951]	likely benign	1	100207379	100207379	Human		name
150418049	CV1179049	single nucleotide variant	NM_001918.5(DBT):c.1018-157C>A	not provided [RCV001550428]	likely benign	1	100206793	100206793	Human		name
150407436	CV1189430	duplication	NM_001918.5(DBT):c.1281+140dup	not provided [RCV001565013]	likely benign	1	100206072	100206073	Human		name
150420373	CV1196418	single nucleotide variant	NM_001918.5(DBT):c.1018-464A>G	not provided [RCV001577582]	likely benign	1	100207100	100207100	Human		name
150431389	CV1206333	single nucleotide variant	NM_001918.5(DBT):c.1281+273A>G	not provided [RCV001580982]	likely benign	1	100205957	100205957	Human		name
150442339	CV1233681	deletion	NM_001918.5(DBT):c.1281+157del	not provided [RCV001645369]	benign	1	100206073	100206073	Human		name
151233296	CV1317771	microsatellite	NM_001918.5(DBT):c.*4448GT[19]	not provided [RCV001787537]	benign	1	100191750	100191769	Human		name
8562824	CV26985	single nucleotide variant	NM_001918.5(DBT):c.1018-550A>G	DBT-related disorder [RCV003415688]\|Maple syrup urine disease [RCV000668558]\|Maple syrup urine disease type 1A [RCV004566723]\|Maple syrup urine disease type 2 [RCV003581560]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100207186	100207186	Human	3	name , trait , alternate_id
11646043	CV275595	microsatellite	NM_001918.5(DBT):c.*678TTAA[1]	Maple syrup urine disease [RCV000268829]	uncertain significance	1	100195570	100195573	Human		name
405160623	CV3075251	microsatellite	NM_001918.5(DBT):c.772+8TAA[2]	Maple syrup urine disease [RCV003637588]	likely benign	1	100215967	100215969	Human		name
14742007	CV656866	single nucleotide variant	NM_001918.5(DBT):c.1018-840T>C	not provided [RCV000841079]	benign	1	100207476	100207476	Human		name
8640902	CV99888	deletion	NM_001918.3(DBT):c.1210-22delT	AllHighlyPenetrant [RCV000079928]\|not specified [RCV000079928]	benign	1	100206323	100206323	Human		name
11598188	CV275578	microsatellite	NM_001918.5(DBT):c.*2633AAAT[5]	Maple syrup urine disease [RCV000402120]	uncertain significance	1	100193599	100193602	Human		name
11592613	CV275579	microsatellite	NM_001918.5(DBT):c.*2633AAAT[7]	Maple syrup urine disease [RCV000340607]\|not provided [RCV001683168]	benign\|likely benign	1	100193598	100193599	Human		name
127338153	CV1130101	single nucleotide variant	NM_001918.5(DBT):c.6T>G (p.Ala2=)	Maple syrup urine disease [RCV001493622]	likely benign	1	100249815	100249815	Human	1	name
150410262	CV1189429	deletion	NM_001918.5(DBT):c.6902_6903del	not provided [RCV001565958]	likely benign	1	100189352	100189353	Human		name
150478097	CV1218730	deletion	NM_001918.5(DBT):c.4482_4507del	not provided [RCV001616357]	benign	1	100191748	100191773	Human		name
150492845	CV1238553	deletion	NM_001918.5(DBT):c.4478_4507del	not provided [RCV001655097]	benign	1	100191748	100191777	Human		name
150503127	CV1241732	deletion	NM_001918.5(DBT):c.4480_4507del	not provided [RCV001657323]	benign	1	100191748	100191775	Human		name
150438557	CV1247188	duplication	NM_001918.5(DBT):c.7679_7681dup	not provided [RCV001665957]	benign	1	100188573	100188574	Human		name
152045385	CV1539475	single nucleotide variant	NM_001918.5(DBT):c.9A>T (p.Ala3=)	Maple syrup urine disease [RCV002145029]	likely benign	1	100249812	100249812	Human	1	name
152092038	CV1602962	single nucleotide variant	NM_001918.5(DBT):c.9A>G (p.Ala3=)	Maple syrup urine disease [RCV002194424]\|not provided [RCV004711897]	likely benign	1	100249812	100249812	Human	1	name
11594197	CV275558	deletion	NM_001918.5(DBT):c.9153_9156del	Maple syrup urine disease [RCV000356570]	uncertain significance	1	100187099	100187102	Human	1	name
11595006	CV275589	deletion	NM_001918.5(DBT):c.6114_6115del	Maple syrup urine disease [RCV000365742]\|not provided [RCV001689960]	benign\|uncertain significance	1	100190140	100190141	Human	1	name
11647565	CV275630	duplication	NM_001918.5(DBT):c.3336_3338dup	Maple syrup urine disease [RCV000277243]	uncertain significance	1	100192916	100192917	Human	1	name
13538577	CV497920	single nucleotide variant	NM_001918.5(DBT):c.6T>A (p.Ala2=)	Maple syrup urine disease [RCV003117388]\|not specified [RCV000612037]	likely benign	1	100249815	100249815	Human	1	name
127232904	CV1065937	single nucleotide variant	NM_001918.5(DBT):c.27C>G (p.Thr9=)	Maple syrup urine disease [RCV001413671]	likely benign	1	100249794	100249794	Human	1	name
127311559	CV1109186	single nucleotide variant	NM_001918.5(DBT):c.15T>C (p.Arg5=)	Maple syrup urine disease [RCV001464183]	likely benign	1	100249806	100249806	Human	1	name
9692875	CV177668	deletion	NM_001918.5(DBT):c.434-15_434-4del	DBT-related disorder [RCV003407575]\|Maple syrup urine disease [RCV001377734]\|Maple syrup urine disease type 1A [RCV004567173]\|not provided [RCV000178857]	pathogenic\|likely pathogenic	1	100218751	100218762	Human	3	name , trait , alternate_id
155952586	CV2076488	insertion	NM_001918.5(DBT):c.51+13_51+14insT	Maple syrup urine disease [RCV002862427]	likely benign	1	100249756	100249757	Human	1	name
11655213	CV275575	insertion	NM_001918.5(DBT):c.8552_8553insT	Maple syrup urine disease [RCV000324242]	uncertain significance	1	100187702	100187703	Human	1	name
597661208	CV3720232	deletion	NM_001918.5(DBT):c.4del (p.Ala2fs)	Maple syrup urine disease type 2 [RCV005028495]	likely pathogenic	1	100249817	100249817	Human	1	name
127266566	CV1065936	single nucleotide variant	NM_001918.5(DBT):c.42G>T (p.Ala14=)	Maple syrup urine disease [RCV001403899]	likely benign	1	100249779	100249779	Human	1	name
127260908	CV1087700	single nucleotide variant	NM_001918.5(DBT):c.54T>C (p.Ile18=)	Maple syrup urine disease [RCV001438710]	likely benign	1	100240882	100240882	Human	1	name
127287634	CV1109178	inversion	NM_001918.5(DBT):c.1210-9_1210-8inv	Maple syrup urine disease [RCV001450174]	likely benign	1	100206309	100206310	Human		name
127314366	CV1130100	single nucleotide variant	NM_001918.5(DBT):c.39T>C (p.Asn13=)	Maple syrup urine disease [RCV001502470]	likely benign	1	100249782	100249782	Human	1	name
151762511	CV1393668	single nucleotide variant	NM_001918.5(DBT):c.1A>G (p.Met1Val)	Maple syrup urine disease [RCV001949316]\|not specified [RCV003235637]	pathogenic\|likely pathogenic\|uncertain significance	1	100249820	100249820	Human	1	name
151735492	CV1494345	duplication	NM_001918.5(DBT):c.17dup (p.Met6fs)	Maple syrup urine disease [RCV001984660]	pathogenic	1	100249803	100249804	Human	1	name
152135644	CV1560427	single nucleotide variant	NM_001918.5(DBT):c.99G>A (p.Lys33=)	Maple syrup urine disease [RCV002137505]	likely benign	1	100240837	100240837	Human	1	name
152149938	CV1616950	single nucleotide variant	NM_001918.5(DBT):c.90T>C (p.His30=)	Maple syrup urine disease [RCV002201809]	likely benign	1	100240846	100240846	Human	1	name
152168544	CV1644406	single nucleotide variant	NM_001918.5(DBT):c.87T>A (p.Val29=)	Maple syrup urine disease [RCV002182481]	likely benign	1	100240849	100240849	Human	1	name
152079404	CV1663398	single nucleotide variant	NM_001918.5(DBT):c.36G>A (p.Arg12=)	Maple syrup urine disease [RCV002149104]	likely benign	1	100249785	100249785	Human	1	name
156118901	CV2128427	single nucleotide variant	NM_001918.5(DBT):c.75A>T (p.Thr25=)	Maple syrup urine disease [RCV002953420]	likely benign	1	100240861	100240861	Human	1	name
156379294	CV2189440	single nucleotide variant	NM_001918.5(DBT):c.63C>G (p.Arg21=)	Maple syrup urine disease [RCV003050364]	likely benign	1	100240873	100240873	Human	1	name
405072350	CV2859106	deletion	NM_001918.5(DBT):c.772+17_772+19del	Maple syrup urine disease [RCV003523937]	likely benign	1	100215964	100215966	Human	1	name
404987096	CV2914243	single nucleotide variant	NM_001918.5(DBT):c.84T>C (p.Asn28=)	Maple syrup urine disease [RCV003524574]	likely benign	1	100240852	100240852	Human	1	name
405160066	CV3125009	single nucleotide variant	NM_001918.5(DBT):c.45G>T (p.Gly15=)	Maple syrup urine disease [RCV003818280]	uncertain significance	1	100249776	100249776	Human	1	name
405218179	CV3143778	single nucleotide variant	NM_001918.5(DBT):c.42G>C (p.Ala14=)	Maple syrup urine disease [RCV003846748]	likely benign	1	100249779	100249779	Human	1	name
597931431	CV3862426	deletion	NM_001918.5(DBT):c.434-20_434-19del	Maple syrup urine disease [RCV005206671]	likely benign	1	100218766	100218767	Human	1	name
13787911	CV540631	deletion	NM_001918.5(DBT):c.1282-5_1282-2del	Maple syrup urine disease type 1A [RCV005430775]	likely pathogenic	1	100196424	100196427	Human	1	name
14692928	CV620701	deletion	NM_001918.5(DBT):c.1282-5_1282-1del	Maple syrup urine disease [RCV000778178]	uncertain significance	1	100196423	100196427	Human		name
15158442	CV745490	single nucleotide variant	NM_001918.5(DBT):c.42G>A (p.Ala14=)	Maple syrup urine disease [RCV000925071]	likely benign	1	100249779	100249779	Human	1	name
38485275	CV921533	single nucleotide variant	NM_001918.5(DBT):c.4G>A (p.Ala2Thr)	Maple syrup urine disease [RCV001219774]\|not provided [RCV004774318]	uncertain significance	1	100249817	100249817	Human	1	name
8640923	CV99909	single nucleotide variant	NM_001918.5(DBT):c.5C>T (p.Ala2Val)	Maple syrup urine disease [RCV000631893]\|not provided [RCV000079949]	conflicting interpretations of pathogenicity\|uncertain significance	1	100249816	100249816	Human	1	name
127234615	CV1065920	deletion	NM_001918.5(DBT):c.1210-11_1210-9del	Maple syrup urine disease [RCV001414238]	likely benign	1	100206310	100206312	Human	1	name
127269466	CV1065933	single nucleotide variant	NM_001918.5(DBT):c.225G>A (p.Gly75=)	Maple syrup urine disease [RCV001404704]	likely benign	1	100235462	100235462	Human	1	name
127255796	CV1065935	single nucleotide variant	NM_001918.5(DBT):c.159C>T (p.Phe53=)	Maple syrup urine disease [RCV001418852]	likely benign	1	100240777	100240777	Human	1	name
127269866	CV1087699	single nucleotide variant	NM_001918.5(DBT):c.123T>C (p.Gly41=)	Maple syrup urine disease [RCV001430390]	likely benign	1	100240813	100240813	Human	1	name
127308507	CV1130096	single nucleotide variant	NM_001918.5(DBT):c.282G>A (p.Gln94=)	Maple syrup urine disease [RCV001480634]	likely benign	1	100230884	100230884	Human	1	name
127308464	CV1130097	single nucleotide variant	NM_001918.5(DBT):c.273A>C (p.Thr91=)	Maple syrup urine disease [RCV001480624]	likely benign	1	100230893	100230893	Human	1	name
152101322	CV1578868	single nucleotide variant	NM_001918.5(DBT):c.231A>G (p.Arg77=)	DBT-related disorder [RCV003958808]\|Maple syrup urine disease [RCV002079030]	likely benign	1	100235456	100235456	Human	2	name , trait , alternate_id
152134705	CV1638431	single nucleotide variant	NM_001918.5(DBT):c.264A>G (p.Glu88=)	Maple syrup urine disease [RCV002083345]	likely benign	1	100230902	100230902	Human	1	name
156021195	CV1882330	single nucleotide variant	NM_001918.5(DBT):c.16A>G (p.Met6Val)	Maple syrup urine disease [RCV003077628]	uncertain significance	1	100249805	100249805	Human	1	name
10047646	CV190798	deletion	NM_001918.5(DBT):c.1210-10_1210-9del	Maple syrup urine disease [RCV001519134]\|not specified [RCV000173750]	benign	1	100206310	100206311	Human	1	name
156077507	CV2025750	insertion	NM_001918.5(DBT):c.1210-8_1210-7insT	Maple syrup urine disease [RCV002760518]	likely benign	1	100206308	100206309	Human	1	name
156280075	CV2042763	single nucleotide variant	NM_001918.5(DBT):c.14G>A (p.Arg5His)	Maple syrup urine disease [RCV002770352]	uncertain significance	1	100249807	100249807	Human	1	name
156038085	CV2052623	single nucleotide variant	NM_001918.5(DBT):c.288T>C (p.Asp96=)	Maple syrup urine disease [RCV002796329]	likely benign	1	100230878	100230878	Human	1	name
156207548	CV2076790	single nucleotide variant	NM_001918.5(DBT):c.207C>T (p.Leu69=)	Maple syrup urine disease [RCV002852700]	likely benign	1	100235480	100235480	Human	1	name
155989144	CV2101911	single nucleotide variant	NM_001918.5(DBT):c.138G>A (p.Lys46=)	Maple syrup urine disease [RCV002908072]	likely benign	1	100240798	100240798	Human	1	name
156363775	CV2130431	single nucleotide variant	NM_001918.5(DBT):c.207C>G (p.Leu69=)	Maple syrup urine disease [RCV002967149]	likely benign	1	100235480	100235480	Human	1	name
156096126	CV2132046	deletion	NM_001918.5(DBT):c.1282-11_1282-9del	Maple syrup urine disease [RCV003002028]	likely benign	1	100196431	100196433	Human	1	name
156250763	CV2162610	single nucleotide variant	NM_001918.5(DBT):c.273A>G (p.Thr91=)	Maple syrup urine disease [RCV003026331]	likely benign	1	100230893	100230893	Human	1	name
8598835	CV26988	single nucleotide variant	NM_001918.5(DBT):c.1150= (p.Ser384=)	Maple syrup urine disease [RCV000532824]\|Maple syrup urine disease type 2 [RCV003581563]	pathogenic\|benign	1	100206504	100206504	Human	2	name
11637319	CV271749	deletion	NM_001918.5(DBT):c.1282-11_1282-5del	not provided [RCV000282864]	uncertain significance	1	100196427	100196433	Human		name
11581504	CV275642	single nucleotide variant	NM_001918.5(DBT):c.291C>T (p.Ser97=)	Maple syrup urine disease [RCV000372605]\|not specified [RCV000439344]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	100230875	100230875	Human	1	name
405066037	CV2864616	single nucleotide variant	NM_001918.5(DBT):c.120T>C (p.Phe40=)	Maple syrup urine disease [RCV003523319]	likely benign	1	100240816	100240816	Human	1	name
405053810	CV2884711	deletion	NM_001918.5(DBT):c.1282-16_1282-9del	Maple syrup urine disease [RCV003522400]	likely benign	1	100196431	100196438	Human	1	name
404987758	CV2910708	single nucleotide variant	NM_001918.5(DBT):c.258A>G (p.Val86=)	Maple syrup urine disease [RCV003524720]	likely benign	1	100230908	100230908	Human	1	name
404987125	CV2917043	duplication	NM_001918.5(DBT):c.1209+9_1209+10dup	Maple syrup urine disease [RCV003524570]	likely benign	1	100206434	100206435	Human	1	name
404988932	CV2922081	single nucleotide variant	NM_001918.5(DBT):c.129T>G (p.Pro43=)	Maple syrup urine disease [RCV003524840]	likely benign	1	100240807	100240807	Human	1	name
405059222	CV2929948	single nucleotide variant	NM_001918.5(DBT):c.228T>C (p.Ile76=)	Maple syrup urine disease [RCV003522803]	likely benign	1	100235459	100235459	Human	1	name
405136937	CV3022529	single nucleotide variant	NM_001918.5(DBT):c.246A>G (p.Lys82=)	Maple syrup urine disease [RCV003635464]	likely benign	1	100235441	100235441	Human	1	name
405102232	CV3119372	deletion	NM_001918.5(DBT):c.1281+8_1281+20del	Maple syrup urine disease [RCV003811633]	likely benign	1	100206210	100206222	Human	1	name
405119054	CV3134783	duplication	NM_001918.5(DBT):c.1282-10_1282-9dup	Maple syrup urine disease [RCV003837193]	likely benign	1	100196430	100196431	Human	1	name
405226368	CV3142512	single nucleotide variant	NM_001918.5(DBT):c.243T>G (p.Val81=)	Maple syrup urine disease [RCV003848051]	likely benign	1	100235444	100235444	Human	1	name
13436378	CV433481	deletion	NM_001918.5(DBT):c.1282-14_1282-9del	DBT-related disorder [RCV003915410]\|Maple syrup urine disease [RCV000913124]\|Maple syrup urine disease type 1A [RCV003654414]	benign\|likely benign	1	100196431	100196436	Human	3	name , trait , alternate_id
13491333	CV446980	insertion	NM_001918.5(DBT):c.1210-9_1210-8insT	Maple syrup urine disease [RCV000534141]\|not specified [RCV001701031]	benign	1	100206309	100206310	Human	1	name
15126190	CV743647	deletion	NM_001918.5(DBT):c.1282-13_1282-9del	DBT-related disorder [RCV003910685]\|Maple syrup urine disease [RCV000896892]\|Maple syrup urine disease type 1A [RCV003655329]	benign\|likely benign	1	100196431	100196435	Human	3	name , trait , alternate_id
15101053	CV758787	deletion	NM_001918.5(DBT):c.1282-15_1282-9del	Maple syrup urine disease [RCV000914712]	likely benign	1	100196431	100196437	Human	1	name
15098192	CV758791	deletion	NM_001918.5(DBT):c.1282-12_1282-9del	Maple syrup urine disease [RCV000914190]	likely benign	1	100196431	100196434	Human	1	name
15184248	CV761012	single nucleotide variant	NM_001918.5(DBT):c.270T>C (p.Asp90=)	Maple syrup urine disease [RCV001451237]	likely benign	1	100230896	100230896	Human	1	name
15190107	CV774353	deletion	NM_001918.5(DBT):c.1210-18_1210-9del	Maple syrup urine disease [RCV000932429]	likely benign	1	100206310	100206319	Human	1	name
28894109	CV861755	single nucleotide variant	NM_001918.5(DBT):c.198G>A (p.Gln66=)	Maple syrup urine disease [RCV001101248]	conflicting interpretations of pathogenicity\|uncertain significance	1	100235489	100235489	Human	1	name
126770082	CV1022447	single nucleotide variant	NM_001918.5(DBT):c.34A>G (p.Arg12Gly)	Maple syrup urine disease [RCV001344280]	uncertain significance	1	100249787	100249787	Human	1	name
127235432	CV1065918	deletion	NM_001918.5(DBT):c.1282-20_1282-10del	Maple syrup urine disease [RCV001396675]	likely benign	1	100196432	100196442	Human	1	name
127278466	CV1065925	single nucleotide variant	NM_001918.5(DBT):c.990T>C (p.Asp330=)	Maple syrup urine disease [RCV001408484]	likely benign	1	100210721	100210721	Human	1	name
127238073	CV1065926	single nucleotide variant	NM_001918.5(DBT):c.960A>G (p.Leu320=)	Maple syrup urine disease [RCV001392413]	likely benign	1	100210751	100210751	Human	1	name
127280364	CV1065930	single nucleotide variant	NM_001918.5(DBT):c.427T>C (p.Leu143=)	Maple syrup urine disease [RCV001409736]	likely benign	1	100230739	100230739	Human	1	name
127268573	CV1065931	single nucleotide variant	NM_001918.5(DBT):c.378C>T (p.Asp126=)	Maple syrup urine disease [RCV001404415]	likely benign	1	100230788	100230788	Human	1	name
127283826	CV1065932	single nucleotide variant	NM_001918.5(DBT):c.369T>C (p.Tyr123=)	Maple syrup urine disease [RCV001412035]	likely benign	1	100230797	100230797	Human	1	name
127242171	CV1087685	deletion	NM_001918.5(DBT):c.1282-24_1282-10del	Maple syrup urine disease [RCV001434582]	likely benign	1	100196432	100196446	Human	1	name
127263394	CV1087688	single nucleotide variant	NM_001918.5(DBT):c.945T>C (p.Ala315=)	Maple syrup urine disease [RCV001428552]	likely benign	1	100210766	100210766	Human	1	name
127269404	CV1087689	single nucleotide variant	NM_001918.5(DBT):c.915C>T (p.Leu305=)	Maple syrup urine disease [RCV001430269]	likely benign	1	100214841	100214841	Human	1	name
127244671	CV1087690	single nucleotide variant	NM_001918.5(DBT):c.663C>T (p.Pro221=)	Maple syrup urine disease [RCV001435088]	likely benign	1	100216092	100216092	Human	1	name
127234638	CV1087691	single nucleotide variant	NM_001918.5(DBT):c.562C>T (p.Leu188=)	Maple syrup urine disease [RCV001422099]	likely benign	1	100216193	100216193	Human	1	name
127257569	CV1087693	single nucleotide variant	NM_001918.5(DBT):c.549A>G (p.Glu183=)	Maple syrup urine disease [RCV001437922]	likely benign	1	100218632	100218632	Human	1	name
127275279	CV1087694	single nucleotide variant	NM_001918.5(DBT):c.495G>A (p.Glu165=)	Maple syrup urine disease [RCV001443266]	likely benign	1	100218686	100218686	Human	1	name
127262811	CV1087695	single nucleotide variant	NM_001918.5(DBT):c.474T>C (p.His158=)	Maple syrup urine disease [RCV001428431]	likely benign	1	100218707	100218707	Human	1	name
127241653	CV1087697	single nucleotide variant	NM_001918.5(DBT):c.384T>C (p.Ile128=)	Maple syrup urine disease [RCV001423596]	likely benign	1	100230782	100230782	Human	1	name
127248944	CV1087698	single nucleotide variant	NM_001918.5(DBT):c.351C>T (p.Val117=)	Maple syrup urine disease [RCV001425022]	likely benign	1	100230815	100230815	Human	1	name
127307621	CV1109177	deletion	NM_001918.5(DBT):c.1282-21_1282-10del	Maple syrup urine disease [RCV001463092]	likely benign	1	100196432	100196443	Human	1	name
127312973	CV1109184	single nucleotide variant	NM_001918.5(DBT):c.514C>T (p.Leu172=)	Maple syrup urine disease [RCV001457304]	likely benign	1	100218667	100218667	Human	1	name
127310370	CV1109185	single nucleotide variant	NM_001918.5(DBT):c.483T>C (p.His161=)	Maple syrup urine disease [RCV001463840]	likely benign	1	100218698	100218698	Human	1	name
127329848	CV1130093	single nucleotide variant	NM_001918.5(DBT):c.765C>T (p.Pro255=)	Maple syrup urine disease [RCV001487718]	likely benign	1	100215990	100215990	Human	1	name
127301956	CV1130094	single nucleotide variant	NM_001918.5(DBT):c.747C>G (p.Gly249=)	Maple syrup urine disease [RCV001498986]	likely benign	1	100216008	100216008	Human	1	name
127288753	CV1130095	single nucleotide variant	NM_001918.5(DBT):c.744A>C (p.Thr248=)	Maple syrup urine disease [RCV001495394]	likely benign	1	100216011	100216011	Human	1	name
150480491	CV1208027	inversion	NM_001918.5(DBT):c.1210-11_1210-10inv	Maple syrup urine disease [RCV003635963]\|not provided [RCV001590304]	benign\|uncertain significance	1	100206311	100206312	Human		name
150487142	CV1283753	deletion	NM_001918.5(DBT):c.434-187_434-186del	not provided [RCV001715902]	benign	1	100218933	100218934	Human		name
151851549	CV1366032	single nucleotide variant	NM_001918.5(DBT):c.86T>C (p.Val29Ala)	Maple syrup urine disease [RCV001922854]\|not provided [RCV004691463]	uncertain significance	1	100240850	100240850	Human	1	name
151822730	CV1424921	single nucleotide variant	NM_001918.5(DBT):c.29G>A (p.Trp10Ter)	Maple syrup urine disease [RCV001919733]	pathogenic\|likely pathogenic	1	100249792	100249792	Human	1	name
152130786	CV1519906	single nucleotide variant	NM_001918.5(DBT):c.933C>T (p.Phe311=)	Maple syrup urine disease [RCV002155506]	likely benign	1	100214823	100214823	Human	1	name
152043686	CV1522478	single nucleotide variant	NM_001918.5(DBT):c.387C>T (p.Ala129=)	Maple syrup urine disease [RCV002088293]	likely benign	1	100230779	100230779	Human	1	name
152160790	CV1530903	single nucleotide variant	NM_001918.5(DBT):c.624T>C (p.Tyr208=)	Maple syrup urine disease [RCV002123155]	likely benign	1	100216131	100216131	Human	1	name
152077500	CV1531332	deletion	NM_001918.5(DBT):c.1282-23_1282-10del	Maple syrup urine disease [RCV002210790]	likely benign	1	100196432	100196445	Human	1	name
152060687	CV1540663	single nucleotide variant	NM_001918.5(DBT):c.897T>C (p.Phe299=)	Maple syrup urine disease [RCV002110074]	likely benign	1	100214859	100214859	Human	1	name
152063966	CV1554535	deletion	NM_001918.5(DBT):c.1282-18_1282-10del	Maple syrup urine disease [RCV002190885]	benign	1	100196432	100196440	Human	1	name
152061631	CV1559367	deletion	NM_001918.5(DBT):c.1282-26_1282-10del	Maple syrup urine disease [RCV002168070]	likely benign	1	100196432	100196448	Human	1	name
152121465	CV1562507	deletion	NM_001918.5(DBT):c.1282-25_1282-10del	Maple syrup urine disease [RCV002098212]	likely benign	1	100196432	100196447	Human	1	name
152154755	CV1563670	single nucleotide variant	NM_001918.5(DBT):c.792C>G (p.Val264=)	Maple syrup urine disease [RCV002202510]	likely benign	1	100214964	100214964	Human	1	name
152098677	CV1578471	single nucleotide variant	NM_001918.5(DBT):c.696A>G (p.Pro232=)	Maple syrup urine disease [RCV002151530]	likely benign	1	100216059	100216059	Human	1	name
152153498	CV1592830	single nucleotide variant	NM_001918.5(DBT):c.408A>G (p.Val136=)	Maple syrup urine disease [RCV002202338]	likely benign	1	100230758	100230758	Human	1	name
152040110	CV1592928	duplication	NM_001918.5(DBT):c.1282-21_1282-10dup	Maple syrup urine disease [RCV002188129]	likely benign	1	100196431	100196432	Human	1	name
152164710	CV1625516	single nucleotide variant	NM_001918.5(DBT):c.963G>A (p.Gln321=)	Maple syrup urine disease [RCV002160302]	likely benign	1	100210748	100210748	Human	1	name
152070964	CV1630638	deletion	NM_001918.5(DBT):c.1282-19_1282-10del	Maple syrup urine disease [RCV002129613]	benign	1	100196432	100196441	Human	1	name
152078665	CV1632164	single nucleotide variant	NM_001918.5(DBT):c.831T>C (p.Gly277=)	Maple syrup urine disease [RCV002130558]	likely benign	1	100214925	100214925	Human	1	name
152147922	CV1653815	single nucleotide variant	NM_001918.5(DBT):c.837T>C (p.Cys279=)	Maple syrup urine disease [RCV002139082]	likely benign	1	100214919	100214919	Human	1	name
152103243	CV1656963	single nucleotide variant	NM_001918.5(DBT):c.834T>C (p.Tyr278=)	Maple syrup urine disease [RCV002195819]	likely benign	1	100214922	100214922	Human	1	name
152145710	CV1658395	single nucleotide variant	NM_001918.5(DBT):c.804T>A (p.Ser268=)	Maple syrup urine disease [RCV002220010]	likely benign	1	100214952	100214952	Human	1	name
156392012	CV1879722	single nucleotide variant	NM_001918.5(DBT):c.36G>C (p.Arg12Ser)	Maple syrup urine disease [RCV003068136]\|not provided [RCV004691502]	uncertain significance	1	100249785	100249785	Human	1	name
156411565	CV1889419	single nucleotide variant	NM_001918.5(DBT):c.465A>C (p.Ala155=)	Maple syrup urine disease [RCV003072532]	likely benign	1	100218716	100218716	Human	1	name
156415638	CV1955457	single nucleotide variant	NM_001918.5(DBT):c.936A>G (p.Leu312=)	Maple syrup urine disease [RCV002589279]	likely benign	1	100214820	100214820	Human	1	name
155900962	CV1975630	single nucleotide variant	NM_001918.5(DBT):c.714T>C (p.Pro238=)	Maple syrup urine disease [RCV002613381]	likely benign	1	100216041	100216041	Human	1	name
156241907	CV2043732	single nucleotide variant	NM_001918.5(DBT):c.813G>A (p.Leu271=)	Maple syrup urine disease [RCV002805707]	likely benign	1	100214943	100214943	Human	1	name
155914499	CV2066106	single nucleotide variant	NM_001918.5(DBT):c.537T>C (p.Arg179=)	Maple syrup urine disease [RCV002837962]	likely benign	1	100218644	100218644	Human	1	name
10403433	CV206688	single nucleotide variant	NM_001918.5(DBT):c.327C>T (p.Thr109=)	DBT-related disorder [RCV003917747]\|Maple syrup urine disease [RCV000322581]\|not provided [RCV000756009]\|not specified [RCV000192508]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	100230839	100230839	Human	2	name , trait , alternate_id
10403915	CV206689	single nucleotide variant	NM_001918.5(DBT):c.37A>G (p.Asn13Asp)	DBT-related disorder [RCV003937689]\|Maple syrup urine disease [RCV000873425]\|not provided [RCV004710578]\|not specified [RCV000193720]	benign\|likely benign\|uncertain significance	1	100249784	100249784	Human	2	name , trait , alternate_id
156016545	CV2083446	single nucleotide variant	NM_001918.5(DBT):c.333T>C (p.Thr111=)	Maple syrup urine disease [RCV002866387]	likely benign	1	100230833	100230833	Human	1	name
156332130	CV2094887	single nucleotide variant	NM_001918.5(DBT):c.579C>T (p.Gly193=)	Maple syrup urine disease [RCV002899989]	likely benign	1	100216176	100216176	Human	1	name
156020807	CV2118585	single nucleotide variant	NM_001918.5(DBT):c.321T>A (p.Ser107=)	Maple syrup urine disease [RCV002948764]	likely benign	1	100230845	100230845	Human	1	name
156237467	CV2119182	single nucleotide variant	NM_001918.5(DBT):c.870C>T (p.Leu290=)	Maple syrup urine disease [RCV002958747]	likely benign	1	100214886	100214886	Human	1	name
155945952	CV2139439	deletion	NM_001918.5(DBT):c.1282-22_1282-10del	Maple syrup urine disease [RCV002994342]	likely benign	1	100196432	100196444	Human	1	name
156095916	CV2139645	single nucleotide variant	NM_001918.5(DBT):c.480A>G (p.Glu160=)	Maple syrup urine disease [RCV002979790]	likely benign	1	100218701	100218701	Human	1	name
155924013	CV2148675	single nucleotide variant	NM_001918.5(DBT):c.576T>C (p.Val192=)	Maple syrup urine disease [RCV003013322]	likely benign	1	100216179	100216179	Human	1	name
156300655	CV2149748	single nucleotide variant	NM_001918.5(DBT):c.702C>T (p.Asp234=)	Maple syrup urine disease [RCV003028075]	likely benign	1	100216053	100216053	Human	1	name
11582149	CV265476	deletion	NM_001918.5(DBT):c.1282-14_1282-10del	Maple syrup urine disease [RCV000399894]\|not specified [RCV000332717]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	100196432	100196436	Human	1	name
405077307	CV2867809	single nucleotide variant	NM_001918.5(DBT):c.366T>C (p.Tyr122=)	Maple syrup urine disease [RCV003524253]	likely benign	1	100230800	100230800	Human	1	name
405076517	CV2870776	insertion	NM_001918.5(DBT):c.1210-9_1210-8insTT	Maple syrup urine disease [RCV003524195]	likely benign	1	100206309	100206310	Human	1	name
404991769	CV2890368	single nucleotide variant	NM_001918.5(DBT):c.861G>A (p.Leu287=)	Maple syrup urine disease [RCV003525137]	likely benign	1	100214895	100214895	Human	1	name
405068807	CV2907169	single nucleotide variant	NM_001918.5(DBT):c.741C>T (p.Phe247=)	Maple syrup urine disease [RCV003523671]	likely benign	1	100216014	100216014	Human	1	name
404986861	CV2914672	deletion	NM_001918.5(DBT):c.247del (p.Glu83fs)	Maple syrup urine disease [RCV003524641]	pathogenic	1	100235440	100235440	Human	1	name
404987437	CV2917715	single nucleotide variant	NM_001918.5(DBT):c.642A>C (p.Gly214=)	Maple syrup urine disease [RCV003524687]	likely benign	1	100216113	100216113	Human	1	name
405057249	CV2928898	single nucleotide variant	NM_001918.5(DBT):c.894A>C (p.Ala298=)	Maple syrup urine disease [RCV003522669]	likely benign	1	100214862	100214862	Human	1	name
405144453	CV2939251	single nucleotide variant	NM_001918.5(DBT):c.855T>C (p.Thr285=)	Maple syrup urine disease [RCV003636212]	likely benign	1	100214901	100214901	Human	1	name
405144032	CV2940442	single nucleotide variant	NM_001918.5(DBT):c.666A>G (p.Lys222=)	Maple syrup urine disease [RCV003636090]	likely benign	1	100216089	100216089	Human	1	name
405138833	CV3032176	single nucleotide variant	NM_001918.5(DBT):c.630A>G (p.Glu210=)	Maple syrup urine disease [RCV003635630]	likely benign	1	100216125	100216125	Human	1	name
405140519	CV3049807	single nucleotide variant	NM_001918.5(DBT):c.735G>A (p.Pro245=)	Maple syrup urine disease [RCV003635790]	likely benign	1	100216020	100216020	Human	1	name
405049006	CV3137848	single nucleotide variant	NM_001918.5(DBT):c.645T>G (p.Ala215=)	Maple syrup urine disease [RCV003831886]	likely benign	1	100216110	100216110	Human	1	name
405203352	CV3143657	single nucleotide variant	NM_001918.5(DBT):c.501G>A (p.Lys167=)	Maple syrup urine disease [RCV003844643]	likely benign	1	100218680	100218680	Human	1	name
405223148	CV3158374	single nucleotide variant	NM_001918.5(DBT):c.876A>G (p.Glu292=)	Maple syrup urine disease [RCV003863870]	likely benign	1	100214880	100214880	Human	1	name
405135440	CV3163998	single nucleotide variant	NM_001918.5(DBT):c.528A>G (p.Ala176=)	Maple syrup urine disease [RCV003854986]	likely benign	1	100218653	100218653	Human	1	name
402499010	CV3170381	single nucleotide variant	NM_001918.5(DBT):c.903T>C (p.Arg301=)	Maple syrup urine disease [RCV003877753]	likely benign	1	100214853	100214853	Human	1	name
402483644	CV3171189	single nucleotide variant	NM_001918.5(DBT):c.849C>T (p.Asp283=)	Maple syrup urine disease [RCV003876216]	likely benign	1	100214907	100214907	Human	1	name
405281865	CV3224369	single nucleotide variant	NM_001918.5(DBT):c.30G>A (p.Trp10Ter)	Maple syrup urine disease [RCV005064936]\|Maple syrup urine disease type 2 [RCV003988751]	pathogenic\|likely pathogenic	1	100249791	100249791	Human	2	name
597964876	CV3751032	deletion	NM_001918.5(DBT):c.1210-23_1210-20del	Maple syrup urine disease [RCV005082594]	likely benign	1	100206321	100206324	Human	1	name
597910866	CV3850434	single nucleotide variant	NM_001918.5(DBT):c.723A>G (p.Val241=)	Maple syrup urine disease [RCV005203582]	likely benign	1	100216032	100216032	Human	1	name
14710471	CV626467	deletion	NM_001918.5(DBT):c.261del (p.Glu88fs)	Maple syrup urine disease [RCV000814694]	pathogenic	1	100230905	100230905	Human	1	name
15165140	CV718038	single nucleotide variant	NM_001918.5(DBT):c.747C>A (p.Gly249=)	Maple syrup urine disease [RCV000882349]	benign\|likely benign	1	100216008	100216008	Human	1	name
15106814	CV729898	duplication	NM_001918.5(DBT):c.1282-23_1282-10dup	not provided [RCV000893355]	benign	1	100196431	100196432	Human		name
15156330	CV731503	single nucleotide variant	NM_001918.5(DBT):c.342T>C (p.Tyr114=)	Maple syrup urine disease [RCV002065701]	likely benign	1	100230824	100230824	Human	1	name
15158485	CV731504	single nucleotide variant	NM_001918.5(DBT):c.62G>A (p.Arg21His)	Inborn genetic diseases [RCV004028532]\|Maple syrup urine disease [RCV000902742]	likely benign\|uncertain significance	1	100240874	100240874	Human	2	name
15197895	CV745488	single nucleotide variant	NM_001918.5(DBT):c.978C>T (p.Asn326=)	Inborn genetic diseases [RCV005318559]\|Maple syrup urine disease [RCV000912103]	likely benign	1	100210733	100210733	Human	2	name
15158000	CV745489	single nucleotide variant	NM_001918.5(DBT):c.318T>G (p.Ala106=)	DBT-related disorder [RCV003942863]\|Maple syrup urine disease [RCV001409534]	likely benign	1	100230848	100230848	Human	2	name , trait , alternate_id
15190759	CV761010	single nucleotide variant	NM_001918.5(DBT):c.891T>C (p.Ile297=)	Maple syrup urine disease [RCV001498487]	likely benign	1	100214865	100214865	Human	1	name
15132809	CV761011	single nucleotide variant	NM_001918.5(DBT):c.420G>A (p.Thr140=)	Maple syrup urine disease [RCV000942464]	likely benign	1	100230746	100230746	Human	1	name
15194776	CV776985	duplication	NM_001918.5(DBT):c.1282-24_1282-10dup	Maple syrup urine disease [RCV000955736]	benign	1	100196431	100196432	Human	1	name
15193002	CV776994	duplication	NM_001918.5(DBT):c.1282-13_1282-10dup	not provided [RCV000955242]	benign	1	100196431	100196432	Human		name
15176368	CV778715	duplication	NM_001918.5(DBT):c.1282-14_1282-10dup	not provided [RCV000973170]	benign	1	100196431	100196432	Human		name
15122344	CV778716	duplication	NM_001918.5(DBT):c.1282-15_1282-10dup	not provided [RCV000963057]	benign	1	100196431	100196432	Human		name
15142918	CV780243	single nucleotide variant	NM_001918.5(DBT):c.804T>C (p.Ser268=)	Maple syrup urine disease [RCV001432870]	likely benign	1	100214952	100214952	Human	1	name
15101146	CV780244	single nucleotide variant	NM_001918.5(DBT):c.510A>G (p.Lys170=)	Maple syrup urine disease [RCV001415390]	likely benign	1	100218671	100218671	Human	1	name
15105019	CV780245	single nucleotide variant	NM_001918.5(DBT):c.336T>C (p.Ser112=)	Maple syrup urine disease [RCV000976343]	likely benign	1	100230830	100230830	Human	1	name
15101813	CV780246	single nucleotide variant	NM_001918.5(DBT):c.300A>G (p.Glu100=)	Maple syrup urine disease [RCV000975673]	likely benign	1	100230866	100230866	Human	1	name
40888636	CV971636	single nucleotide variant	NM_001918.5(DBT):c.70C>T (p.Gln24Ter)	Maple syrup urine disease [RCV001263645]	likely pathogenic	1	100240866	100240866	Human	1	name
8640924	CV99910	single nucleotide variant	NM_001918.5(DBT):c.61C>T (p.Arg21Cys)	Maple syrup urine disease [RCV000670564]\|Maple syrup urine disease type 1A [RCV005430485]\|not provided [RCV000079950]	uncertain significance	1	100240875	100240875	Human	2	name
8640928	CV99914	single nucleotide variant	NM_001918.5(DBT):c.753C>T (p.Asp251=)	Maple syrup urine disease [RCV000871289]\|not provided [RCV001703990]\|not specified [RCV000079954]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100216002	100216002	Human	1	name
8640929	CV99915	single nucleotide variant	NM_001918.5(DBT):c.76T>C (p.Cys26Arg)	Maple syrup urine disease [RCV000873037]\|not provided [RCV001703991]\|not specified [RCV000079955]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	100240860	100240860	Human	1	name
127247466	CV1065917	single nucleotide variant	NM_001918.5(DBT):c.1407C>G (p.Ser469=)	Maple syrup urine disease [RCV001394267]	likely benign	1	100196297	100196297	Human	1	name
127232073	CV1065919	single nucleotide variant	NM_001918.5(DBT):c.1269T>C (p.Leu423=)	Maple syrup urine disease [RCV001395549]	likely benign	1	100206242	100206242	Human	1	name
127249335	CV1065921	single nucleotide variant	NM_001918.5(DBT):c.1191T>C (p.Thr397=)	Maple syrup urine disease [RCV001399578]	likely benign	1	100206463	100206463	Human	1	name
127244540	CV1065922	single nucleotide variant	NM_001918.5(DBT):c.1158C>G (p.Leu386=)	Maple syrup urine disease [RCV001393729]	likely benign	1	100206496	100206496	Human	1	name
127268245	CV1065923	single nucleotide variant	NM_001918.5(DBT):c.1140G>A (p.Leu380=)	Maple syrup urine disease [RCV001404346]	likely benign	1	100206514	100206514	Human	1	name
127272114	CV1087683	single nucleotide variant	NM_001918.5(DBT):c.1383A>C (p.Ser461=)	Maple syrup urine disease [RCV001431191]	likely benign	1	100196321	100196321	Human	1	name
127237955	CV1087684	single nucleotide variant	NM_001918.5(DBT):c.1320G>A (p.Lys440=)	Maple syrup urine disease [RCV001422786]	likely benign	1	100196384	100196384	Human	1	name
127237136	CV1087686	single nucleotide variant	NM_001918.5(DBT):c.1152T>C (p.Ser384=)	Maple syrup urine disease [RCV001422658]	likely benign	1	100206502	100206502	Human	1	name
127294912	CV1109175	single nucleotide variant	NM_001918.5(DBT):c.1410T>C (p.Tyr470=)	Maple syrup urine disease [RCV001452347]	likely benign	1	100196294	100196294	Human	1	name
127308730	CV1109176	single nucleotide variant	NM_001918.5(DBT):c.1398G>A (p.Leu466=)	Maple syrup urine disease [RCV001463374]	likely benign	1	100196306	100196306	Human	1	name
127304660	CV1109179	single nucleotide variant	NM_001918.5(DBT):c.1158C>T (p.Leu386=)	Maple syrup urine disease [RCV001462314]	likely benign	1	100206496	100206496	Human	1	name
127306596	CV1109180	single nucleotide variant	NM_001918.5(DBT):c.1138T>C (p.Leu380=)	Maple syrup urine disease [RCV001462815]	likely benign	1	100206516	100206516	Human	1	name
127332900	CV1109181	single nucleotide variant	NM_001918.5(DBT):c.1098T>G (p.Ser366=)	Maple syrup urine disease [RCV001472562]	likely benign	1	100206556	100206556	Human	1	name
151790827	CV1389176	single nucleotide variant	NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)	Maple syrup urine disease [RCV002010688]	likely pathogenic\|uncertain significance	1	100230870	100230870	Human	1	name
151736546	CV1464641	deletion	NM_001918.5(DBT):c.762del (p.Glu254fs)	Maple syrup urine disease [RCV001946642]	pathogenic	1	100215993	100215993	Human	1	name
151742119	CV1504374	single nucleotide variant	NM_001918.5(DBT):c.206T>C (p.Leu69Pro)	Maple syrup urine disease [RCV002022420]	pathogenic\|likely pathogenic	1	100235481	100235481	Human	1	name
152036932	CV1532157	single nucleotide variant	NM_001918.5(DBT):c.1317T>C (p.Tyr439=)	Maple syrup urine disease [RCV002125490]	likely benign	1	100196387	100196387	Human	1	name
152141855	CV1533019	single nucleotide variant	NM_001918.5(DBT):c.1191T>A (p.Thr397=)	Maple syrup urine disease [RCV002156877]	likely benign	1	100206463	100206463	Human	1	name
152097541	CV1534281	single nucleotide variant	NM_001918.5(DBT):c.1371T>C (p.Gly457=)	Maple syrup urine disease [RCV002095054]	likely benign	1	100196333	100196333	Human	1	name
152100778	CV1540075	single nucleotide variant	NM_001918.5(DBT):c.1131C>T (p.Leu377=)	Maple syrup urine disease [RCV002095496]	likely benign	1	100206523	100206523	Human	1	name
152030190	CV1568944	single nucleotide variant	NM_001918.5(DBT):c.1350T>G (p.Ala450=)	Maple syrup urine disease [RCV002186402]	likely benign	1	100196354	100196354	Human	1	name
152054073	CV1573479	single nucleotide variant	NM_001918.5(DBT):c.1107C>T (p.Asp369=)	Maple syrup urine disease [RCV002207865]	likely benign	1	100206547	100206547	Human	1	name
152138894	CV1574559	single nucleotide variant	NM_001918.5(DBT):c.1089G>A (p.Gln363=)	Maple syrup urine disease [RCV002177786]	likely benign	1	100206565	100206565	Human	1	name
152145183	CV1582629	single nucleotide variant	NM_001918.5(DBT):c.1173T>G (p.Leu391=)	Maple syrup urine disease [RCV002201130]	likely benign	1	100206481	100206481	Human	1	name
152152926	CV1623311	single nucleotide variant	NM_001918.5(DBT):c.1248T>C (p.Pro416=)	Maple syrup urine disease [RCV002221094]	likely benign	1	100206263	100206263	Human	1	name
152074738	CV1630328	single nucleotide variant	NM_001918.5(DBT):c.1056G>A (p.Gln352=)	Maple syrup urine disease [RCV002169755]	likely benign	1	100206598	100206598	Human	1	name
155736156	CV1781941	deletion	NM_001918.5(DBT):c.573del (p.Val192fs)	Maple syrup urine disease [RCV002309682]	likely pathogenic	1	100216182	100216182	Human	1	name
155736549	CV1782233	deletion	NM_001918.5(DBT):c.511del (p.Thr171fs)	Maple syrup urine disease [RCV002309974]	likely pathogenic	1	100218670	100218670	Human	1	name
155725230	CV1783531	duplication	NM_001918.5(DBT):c.325dup (p.Thr109fs)	Maple syrup urine disease [RCV002306975]	likely pathogenic	1	100230840	100230841	Human	1	name
155736928	CV1784114	single nucleotide variant	NM_001918.5(DBT):c.131C>G (p.Ser44Ter)	Maple syrup urine disease [RCV002310271]	likely pathogenic	1	100240805	100240805	Human	1	name
156408815	CV1870331	single nucleotide variant	NM_001918.5(DBT):c.1077G>A (p.Val359=)	Maple syrup urine disease [RCV003071417]	likely benign	1	100206577	100206577	Human	1	name
156010774	CV1880401	single nucleotide variant	NM_001918.5(DBT):c.292A>G (p.Ile98Val)	Inborn genetic diseases [RCV004070426]\|Maple syrup urine disease [RCV003077075]	uncertain significance	1	100230874	100230874	Human	2	name
156280228	CV1896732	single nucleotide variant	NM_001918.5(DBT):c.230G>A (p.Arg77Lys)	Maple syrup urine disease [RCV003087087]	uncertain significance	1	100235457	100235457	Human	1	name
156372930	CV1905695	single nucleotide variant	NM_001918.5(DBT):c.182G>A (p.Arg61His)	Inborn genetic diseases [RCV004073091]\|Maple syrup urine disease [RCV003092610]	likely benign\|uncertain significance	1	100235505	100235505	Human	2	name
156335895	CV1906018	single nucleotide variant	NM_001918.5(DBT):c.1014T>C (p.Tyr338=)	Maple syrup urine disease [RCV003090064]	likely benign	1	100210697	100210697	Human	1	name
10048141	CV192318	single nucleotide variant	NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	Maple syrup urine disease [RCV000175709]\|Maple syrup urine disease type 1A [RCV005430258]\|not provided [RCV000724185]	pathogenic\|likely pathogenic	1	100240810	100240810	Human	2	name
10050694	CV192319	single nucleotide variant	NM_001918.5(DBT):c.137A>G (p.Lys46Arg)	Maple syrup urine disease type 2 [RCV003989492]\|not provided [RCV000175710]	uncertain significance	1	100240799	100240799	Human	1	name
156159081	CV1928476	duplication	NM_001918.5(DBT):c.650dup (p.Leu217fs)	Maple syrup urine disease [RCV002664176]	pathogenic	1	100216104	100216105	Human	1	name
156303734	CV1933658	single nucleotide variant	NM_001918.5(DBT):c.181C>T (p.Arg61Cys)	Maple syrup urine disease [RCV002629383]	uncertain significance	1	100235506	100235506	Human	1	name
10056173	CV199938	single nucleotide variant	NM_001918.5(DBT):c.215T>C (p.Ile72Thr)	Maple syrup urine disease [RCV002647945]	uncertain significance	1	100235472	100235472	Human	1	name
156107659	CV2038606	single nucleotide variant	NM_001918.5(DBT):c.1251A>G (p.Glu417=)	Maple syrup urine disease [RCV002761563]	uncertain significance	1	100206260	100206260	Human	1	name
155936710	CV2045870	single nucleotide variant	NM_001918.5(DBT):c.1314A>G (p.Val438=)	Maple syrup urine disease [RCV002751512]	likely benign	1	100196390	100196390	Human	1	name
156064842	CV2054271	single nucleotide variant	NM_001918.5(DBT):c.1068C>T (p.Val356=)	Maple syrup urine disease [RCV002797219]	likely benign	1	100206586	100206586	Human	1	name
156296326	CV2065334	single nucleotide variant	NM_001918.5(DBT):c.1200C>T (p.Asn400=)	Maple syrup urine disease [RCV002856957]	likely benign	1	100206454	100206454	Human	1	name
155952898	CV2073220	deletion	NM_001918.5(DBT):c.639del (p.Gly214fs)	Maple syrup urine disease [RCV002816365]	pathogenic	1	100216116	100216116	Human	1	name
156048216	CV2093388	single nucleotide variant	NM_001918.5(DBT):c.1065T>A (p.Ile355=)	Maple syrup urine disease [RCV002867694]	likely benign	1	100206589	100206589	Human	1	name
156038194	CV2124716	single nucleotide variant	NM_001918.5(DBT):c.1245A>G (p.Pro415=)	Maple syrup urine disease [RCV002923805]	likely benign	1	100206266	100206266	Human	1	name
156122076	CV2179517	single nucleotide variant	NM_001918.5(DBT):c.1441C>T (p.Leu481=)	Maple syrup urine disease [RCV003039355]	likely benign	1	100196263	100196263	Human	1	name
156327875	CV2184536	deletion	NM_001918.5(DBT):c.457del (p.Thr153fs)	Maple syrup urine disease [RCV003047037]	pathogenic\|likely pathogenic	1	100218724	100218724	Human	1	name
156347677	CV2191355	single nucleotide variant	NM_001918.5(DBT):c.1185A>T (p.Thr395=)	Maple syrup urine disease [RCV003048101]	likely benign	1	100206469	100206469	Human	1	name
329952175	CV2668887	single nucleotide variant	NM_001918.5(DBT):c.206T>G (p.Leu69Arg)	not specified [RCV003230971]	uncertain significance	1	100235481	100235481	Human		name
8598834	CV26987	single nucleotide variant	NM_001918.5(DBT):c.294C>G (p.Ile98Met)	Maple syrup urine disease type 2 [RCV003581562]	pathogenic	1	100230872	100230872	Human	1	name
11658540	CV275610	single nucleotide variant	NM_001918.5(DBT):c.1389C>T (p.Phe463=)	Maple syrup urine disease [RCV000350038]	conflicting interpretations of pathogenicity\|uncertain significance	1	100196315	100196315	Human	1	name
401947148	CV2834014	deletion	NM_001918.5(DBT):c.535del (p.Arg179fs)	Maple syrup urine disease [RCV003466112]	likely pathogenic	1	100218646	100218646	Human	1	name
401947150	CV2834016	deletion	NM_001918.5(DBT):c.828del (p.Phe276fs)	Maple syrup urine disease [RCV003466114]	pathogenic\|likely pathogenic	1	100214928	100214928	Human	1	name
401962153	CV2844790	single nucleotide variant	NM_001918.5(DBT):c.250T>C (p.Trp84Arg)	Maple syrup urine disease [RCV003482202]	likely pathogenic	1	100235437	100235437	Human	1	name
405074988	CV2860236	single nucleotide variant	NM_001918.5(DBT):c.1116T>C (p.Thr372=)	Maple syrup urine disease [RCV003524096]	likely benign	1	100206538	100206538	Human	1	name
405065719	CV2860671	single nucleotide variant	NM_001918.5(DBT):c.1032T>C (p.Ile344=)	Maple syrup urine disease [RCV003523275]	likely benign	1	100206622	100206622	Human	1	name
405052821	CV2873619	single nucleotide variant	NM_001918.5(DBT):c.1260T>C (p.Ile420=)	Maple syrup urine disease [RCV003522294]	likely benign	1	100206251	100206251	Human	1	name
405069684	CV2907416	duplication	NM_001918.5(DBT):c.555dup (p.Ile186fs)	Maple syrup urine disease [RCV003523730]	pathogenic	1	100218625	100218626	Human	1	name
404986824	CV2914584	duplication	NM_001918.5(DBT):c.364dup (p.Tyr122fs)	Maple syrup urine disease [RCV003524636]	pathogenic	1	100230801	100230802	Human	1	name
405071268	CV2915360	single nucleotide variant	NM_001918.5(DBT):c.1347A>G (p.Ser449=)	Maple syrup urine disease [RCV003523839]	likely benign	1	100196357	100196357	Human	1	name
405153736	CV2968534	single nucleotide variant	NM_001918.5(DBT):c.1212T>C (p.Ile404=)	Maple syrup urine disease [RCV003637035]	likely benign	1	100206299	100206299	Human	1	name
405156354	CV2978361	single nucleotide variant	NM_001918.5(DBT):c.280C>T (p.Gln94Ter)	Maple syrup urine disease [RCV003637243]\|Maple syrup urine disease type 2 [RCV005014846]	pathogenic\|likely pathogenic	1	100230886	100230886	Human	2	name
405156377	CV2988617	single nucleotide variant	NM_001918.5(DBT):c.1227C>T (p.Ala409=)	Maple syrup urine disease [RCV003637246]	likely benign	1	100206284	100206284	Human	1	name
405162779	CV2992205	single nucleotide variant	NM_001918.5(DBT):c.1221C>T (p.Thr407=)	Maple syrup urine disease [RCV003637715]	likely benign	1	100206290	100206290	Human	1	name
405161008	CV2997838	single nucleotide variant	NM_001918.5(DBT):c.1173T>C (p.Leu391=)	Maple syrup urine disease [RCV003637623]	likely benign	1	100206481	100206481	Human	1	name
405163874	CV3004611	single nucleotide variant	NM_001918.5(DBT):c.1419C>T (p.Asn473=)	Maple syrup urine disease [RCV003637872]	likely benign	1	100196285	100196285	Human	1	name
405137839	CV3030122	single nucleotide variant	NM_001918.5(DBT):c.1215T>C (p.Gly405=)	Maple syrup urine disease [RCV003635524]	likely benign	1	100206296	100206296	Human	1	name
405248165	CV3159253	deletion	NM_001918.5(DBT):c.783del (p.Ala262fs)	Maple syrup urine disease [RCV003869398]	pathogenic	1	100214973	100214973	Human	1	name
405866536	CV3400258	deletion	NM_001918.5(DBT):c.713del (p.Pro238fs)	Maple syrup urine disease type 1A [RCV004575763]\|Maple syrup urine disease type 2 [RCV005015191]	pathogenic	1	100216042	100216042	Human	2	name
12841800	CV364280	single nucleotide variant	NM_001918.5(DBT):c.1143C>G (p.Gly381=)	DBT-related disorder [RCV003897920]\|Maple syrup urine disease [RCV002522513]\|not specified [RCV000433221]	likely benign	1	100206511	100206511	Human	2	name , trait , alternate_id
597748580	CV3723836	single nucleotide variant	NM_001918.5(DBT):c.252G>A (p.Trp84Ter)	Maple syrup urine disease type 2 [RCV005015360]	likely pathogenic	1	100230914	100230914	Human	1	name
597942745	CV3786298	deletion	NM_001918.5(DBT):c.480del (p.Glu160fs)	Maple syrup urine disease [RCV005133989]	pathogenic	1	100218701	100218701	Human	1	name
598128479	CV3887683	single nucleotide variant	NM_001918.5(DBT):c.214A>G (p.Ile72Val)	not provided [RCV005243857]	uncertain significance	1	100235473	100235473	Human		name
12893741	CV404868	deletion	NM_001918.5(DBT):c.731del (p.Pro244fs)	not provided [RCV000480067]	likely pathogenic	1	100216024	100216024	Human		name
13783476	CV540648	duplication	NM_001918.5(DBT):c.360dup (p.Leu121fs)	Maple syrup urine disease type 1A [RCV005430644]	likely pathogenic	1	100230805	100230806	Human	1	name
13787984	CV540655	single nucleotide variant	NM_001918.5(DBT):c.1017G>A (p.Lys339=)	Maple syrup urine disease [RCV000665137]\|Maple syrup urine disease type 1A [RCV004568490]\|Maple syrup urine disease type 2 [RCV004792358]\|not provided [RCV005091923]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100210694	100210694	Human	3	name
14697739	CV623124	deletion	NM_001918.5(DBT):c.898del (p.Ala300fs)	Maple syrup urine disease type 2 [RCV000790386]	pathogenic	1	100214858	100214858	Human	1	name
15099935	CV718037	single nucleotide variant	NM_001918.5(DBT):c.1110C>T (p.Ile370=)	Maple syrup urine disease [RCV000892025]	likely benign	1	100206544	100206544	Human	1	name
15180358	CV761009	single nucleotide variant	NM_001918.5(DBT):c.1275A>G (p.Ser425=)	Maple syrup urine disease [RCV001441351]	likely benign	1	100206236	100206236	Human	1	name
15121011	CV780242	single nucleotide variant	NM_001918.5(DBT):c.1392C>T (p.Ser464=)	Maple syrup urine disease [RCV000979391]	likely benign	1	100196312	100196312	Human	1	name
39456573	CV965750	single nucleotide variant	NM_001918.5(DBT):c.252G>T (p.Trp84Cys)	Maple syrup urine disease [RCV001255379]\|Maple syrup urine disease type 1A [RCV004570647]	pathogenic\|likely pathogenic	1	100230914	100230914	Human	2	name
40888632	CV971632	single nucleotide variant	NM_001918.5(DBT):c.209C>A (p.Ser70Ter)	Maple syrup urine disease [RCV001263641]	likely pathogenic	1	100235478	100235478	Human	1	name
40888633	CV971633	single nucleotide variant	NM_001918.5(DBT):c.196C>T (p.Gln66Ter)	Maple syrup urine disease [RCV001263642]	likely pathogenic	1	100235491	100235491	Human	1	name
40888634	CV971634	single nucleotide variant	NM_001918.5(DBT):c.187C>T (p.Gln63Ter)	Maple syrup urine disease [RCV001263643]	likely pathogenic	1	100235500	100235500	Human	1	name
40888635	CV971635	single nucleotide variant	NM_001918.5(DBT):c.126T>A (p.Tyr42Ter)	Maple syrup urine disease [RCV001263644]	likely pathogenic	1	100240810	100240810	Human	1	name
8640913	CV99899	single nucleotide variant	NM_001918.5(DBT):c.209C>T (p.Ser70Leu)	not provided [RCV000185841]	likely pathogenic\|uncertain significance	1	100235478	100235478	Human		name
8640915	CV99901	single nucleotide variant	NM_001918.5(DBT):c.251G>A (p.Trp84Ter)	not provided [RCV000177143]	pathogenic	1	100235436	100235436	Human		name
8640918	CV99904	deletion	NM_001918.5(DBT):c.360del (p.Lys120fs)	Maple syrup urine disease type 2 [RCV004760370]\|not provided [RCV000178171]	pathogenic	1	100230806	100230806	Human	1	name
126774357	CV1022444	single nucleotide variant	NM_001918.5(DBT):c.962A>T (p.Gln321Leu)	Maple syrup urine disease [RCV001347136]	uncertain significance	1	100210749	100210749	Human	1	name
126731084	CV1022445	single nucleotide variant	NM_001918.5(DBT):c.836G>T (p.Cys279Phe)	Inborn genetic diseases [RCV002545609]\|Maple syrup urine disease [RCV001349367]	uncertain significance	1	100214920	100214920	Human	2	name
126750767	CV1022446	single nucleotide variant	NM_001918.5(DBT):c.815A>G (p.Lys272Arg)	Maple syrup urine disease [RCV001338106]	uncertain significance	1	100214941	100214941	Human	1	name
127301792	CV1109183	single nucleotide variant	NM_001918.5(DBT):c.733C>A (p.Pro245Thr)	Maple syrup urine disease [RCV001454269]	likely benign	1	100216022	100216022	Human	1	name
150335559	CV1170527	deletion	NM_001918.5(DBT):c.1281+156_1281+157del	not provided [RCV001540621]	likely benign	1	100206073	100206074	Human		name
151713401	CV1334498	single nucleotide variant	NM_001918.5(DBT):c.916T>C (p.Ser306Pro)	Maple syrup urine disease [RCV002543269]\|Maple syrup urine disease type 2 [RCV001840964]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100214840	100214840	Human	2	name
151755545	CV1334585	single nucleotide variant	NM_001918.5(DBT):c.820C>A (p.Pro274Thr)	Maple syrup urine disease [RCV001843390]	likely pathogenic	1	100214936	100214936	Human	1	name
151710991	CV1377264	single nucleotide variant	NM_001918.5(DBT):c.451G>A (p.Val151Ile)	Inborn genetic diseases [RCV002553548]\|Maple syrup urine disease [RCV001889375]	uncertain significance	1	100218730	100218730	Human	2	name
151821885	CV1385212	single nucleotide variant	NM_001918.5(DBT):c.538C>G (p.Leu180Val)	Maple syrup urine disease [RCV001975814]	uncertain significance	1	100218643	100218643	Human	1	name
151820460	CV1390816	single nucleotide variant	NM_001918.5(DBT):c.964T>C (p.Phe322Leu)	Maple syrup urine disease [RCV001992718]	likely benign\|uncertain significance	1	100210747	100210747	Human	1	name
151840065	CV1391349	single nucleotide variant	NM_001918.5(DBT):c.883A>C (p.Lys295Gln)	Maple syrup urine disease [RCV001977579]	uncertain significance	1	100214873	100214873	Human	1	name
151737687	CV1410919	single nucleotide variant	NM_001918.5(DBT):c.311A>T (p.Asp104Val)	Maple syrup urine disease [RCV002005492]	likely pathogenic	1	100230855	100230855	Human	1	name
151822222	CV1412614	single nucleotide variant	NM_001918.5(DBT):c.781A>G (p.Lys261Glu)	Maple syrup urine disease [RCV001919687]	uncertain significance	1	100214975	100214975	Human	1	name
151792180	CV1422881	single nucleotide variant	NM_001918.5(DBT):c.991G>A (p.Glu331Lys)	Maple syrup urine disease [RCV001916928]	uncertain significance	1	100210720	100210720	Human	1	name
151814053	CV1460472	single nucleotide variant	NM_001918.5(DBT):c.787A>G (p.Met263Val)	Maple syrup urine disease [RCV001878560]\|not specified [RCV005409039]	uncertain significance	1	100214969	100214969	Human	1	name
151788287	CV1471626	single nucleotide variant	NM_001918.5(DBT):c.304C>T (p.Gln102Ter)	Maple syrup urine disease [RCV001972787]	pathogenic	1	100230862	100230862	Human	1	name
151763548	CV1471679	deletion	NM_001918.5(DBT):c.1195del (p.Ser399fs)	Maple syrup urine disease [RCV001949426]	pathogenic	1	100206459	100206459	Human	1	name
151887101	CV1471891	single nucleotide variant	NM_001918.5(DBT):c.884A>G (p.Lys295Arg)	Maple syrup urine disease [RCV002000815]	uncertain significance	1	100214872	100214872	Human	1	name
151889345	CV1479630	single nucleotide variant	NM_001918.5(DBT):c.668T>G (p.Val223Gly)	Maple syrup urine disease [RCV001888156]	uncertain significance	1	100216087	100216087	Human	1	name
151720455	CV1491532	single nucleotide variant	NM_001918.5(DBT):c.595A>G (p.Arg199Gly)	Maple syrup urine disease [RCV002003587]	uncertain significance	1	100216160	100216160	Human	1	name
152134012	CV1607748	single nucleotide variant	NM_001918.5(DBT):c.536G>A (p.Arg179His)	Maple syrup urine disease [RCV002119453]\|not provided [RCV004711804]	likely benign	1	100218645	100218645	Human	1	name
9692876	CV176923	single nucleotide variant	NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)	Maple syrup urine disease [RCV002516075]\|Maple syrup urine disease type 1A [RCV004567174]\|not provided [RCV000153139]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100230801	100230801	Human	2	name
155747079	CV1778238	single nucleotide variant	NM_001918.5(DBT):c.475G>A (p.Asp159Asn)	Maple syrup urine disease [RCV002303587]	uncertain significance	1	100218706	100218706	Human	1	name
155735260	CV1782904	single nucleotide variant	NM_001918.5(DBT):c.904G>T (p.Gly302Ter)	Maple syrup urine disease [RCV002309061]	likely pathogenic	1	100214852	100214852	Human	1	name
156006501	CV1870426	single nucleotide variant	NM_001918.5(DBT):c.799A>T (p.Met267Leu)	Maple syrup urine disease [RCV003076849]	likely benign	1	100214957	100214957	Human	1	name
156240133	CV1882396	single nucleotide variant	NM_001918.5(DBT):c.398A>T (p.Lys133Met)	Maple syrup urine disease [RCV003085711]	uncertain significance	1	100230768	100230768	Human	1	name
156405744	CV1884591	single nucleotide variant	NM_001918.5(DBT):c.899C>T (p.Ala300Val)	Maple syrup urine disease [RCV003070120]	uncertain significance	1	100214857	100214857	Human	1	name
156183369	CV1884794	single nucleotide variant	NM_001918.5(DBT):c.979G>A (p.Ala327Thr)	Maple syrup urine disease [RCV003083634]	uncertain significance	1	100210732	100210732	Human	1	name
155965471	CV1891982	single nucleotide variant	NM_001918.5(DBT):c.667G>A (p.Val223Ile)	Maple syrup urine disease [RCV003074908]	uncertain significance	1	100216088	100216088	Human	1	name
156028985	CV1893458	single nucleotide variant	NM_001918.5(DBT):c.533G>A (p.Arg178His)	Maple syrup urine disease [RCV003078008]	uncertain significance	1	100218648	100218648	Human	1	name
156385758	CV1893854	single nucleotide variant	NM_001918.5(DBT):c.940G>T (p.Ala314Ser)	Maple syrup urine disease [RCV003093668]	uncertain significance	1	100210771	100210771	Human	1	name
156414432	CV1912253	single nucleotide variant	NM_001918.5(DBT):c.715A>C (p.Ile239Leu)	Maple syrup urine disease [RCV002588607]	uncertain significance	1	100216040	100216040	Human	1	name
10052994	CV195636	single nucleotide variant	NM_001918.5(DBT):c.917C>G (p.Ser306Cys)	Maple syrup urine disease [RCV003635905]\|not provided [RCV000179840]	likely pathogenic\|uncertain significance	1	100214839	100214839	Human	1	name
156244097	CV1973336	single nucleotide variant	NM_001918.5(DBT):c.512C>T (p.Thr171Ile)	Inborn genetic diseases [RCV002597245]\|Maple syrup urine disease [RCV002597246]\|not provided [RCV004774702]	uncertain significance	1	100218669	100218669	Human	2	name
156203841	CV2034856	single nucleotide variant	NM_001918.5(DBT):c.479A>C (p.Glu160Ala)	Maple syrup urine disease [RCV002766340]	uncertain significance	1	100218702	100218702	Human	1	name
155997784	CV2045358	single nucleotide variant	NM_001918.5(DBT):c.963G>C (p.Gln321His)	Maple syrup urine disease [RCV002756050]	uncertain significance	1	100210748	100210748	Human	1	name
156149459	CV2128582	single nucleotide variant	NM_001918.5(DBT):c.872G>A (p.Arg291Gln)	Maple syrup urine disease [RCV002928850]	likely pathogenic	1	100214884	100214884	Human	1	name
155981434	CV2140473	single nucleotide variant	NM_001918.5(DBT):c.581C>A (p.Ser194Ter)	Maple syrup urine disease [RCV002996120]	pathogenic	1	100216174	100216174	Human	1	name
156319653	CV2182495	single nucleotide variant	NM_001918.5(DBT):c.995A>G (p.Asn332Ser)	Maple syrup urine disease [RCV003046517]	uncertain significance	1	100210716	100210716	Human	1	name
156254913	CV2209687	single nucleotide variant	NM_001918.5(DBT):c.379G>C (p.Asp127His)	Inborn genetic diseases [RCV002702672]	uncertain significance	1	100230787	100230787	Human	1	name
156195008	CV2223393	single nucleotide variant	NM_001918.5(DBT):c.719T>C (p.Leu240Pro)	Inborn genetic diseases [RCV002743080]	likely benign	1	100216036	100216036	Human	1	name
243057316	CV2415067	single nucleotide variant	NM_001918.5(DBT):c.500A>C (p.Lys167Thr)	Maple syrup urine disease [RCV003146009]	uncertain significance	1	100218681	100218681	Human	1	name
8598832	CV26982	single nucleotide variant	NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	Maple syrup urine disease [RCV000179835]\|Maple syrup urine disease type 1A [RCV004566722]\|Maple syrup urine disease type 2 [RCV003581558]\|See cases [RCV002251898]\|not provided [RCV000079957]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	100214929	100214929	Human	3	name
8562825	CV26989	deletion	NM_001918.5(DBT):c.75_76del (p.Cys26fs)	Maple syrup urine disease [RCV000626239]\|Maple syrup urine disease type 1A [RCV004566724]\|Maple syrup urine disease type 2 [RCV000012728]\|not provided [RCV005000982]	pathogenic\|likely pathogenic	1	100240860	100240861	Human	3	name
8598837	CV26992	single nucleotide variant	NM_001918.5(DBT):c.581C>G (p.Ser194Ter)	Maple syrup urine disease type 2 [RCV000012731]	pathogenic	1	100216174	100216174	Human	1	name
401797486	CV2742259	single nucleotide variant	NM_001918.5(DBT):c.413T>C (p.Ile138Thr)	not specified [RCV003324440]	uncertain significance	1	100230753	100230753	Human		name
11577791	CV275614	single nucleotide variant	NM_001918.5(DBT):c.506G>A (p.Arg169Gln)	Maple syrup urine disease [RCV000267622]\|not provided [RCV004713481]\|not specified [RCV000432374]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	100218675	100218675	Human	1	name
401947143	CV2834006	deletion	NM_001918.5(DBT):c.1240del (p.Met414fs)	Maple syrup urine disease [RCV003466105]	likely pathogenic	1	100206271	100206271	Human	1	name
401947144	CV2834008	single nucleotide variant	NM_001918.5(DBT):c.394G>A (p.Gly132Arg)	Maple syrup urine disease [RCV003466106]	likely pathogenic	1	100230772	100230772	Human	1	name
401947203	CV2834011	single nucleotide variant	NM_001918.5(DBT):c.505C>T (p.Arg169Ter)	Maple syrup urine disease type 1A [RCV004574032]\|Maple syrup urine disease type 2 [RCV003989846]	likely pathogenic	1	100218676	100218676	Human	2	name
401947146	CV2834012	deletion	NM_001918.5(DBT):c.1385del (p.Arg462fs)	Maple syrup urine disease [RCV003466110]	likely pathogenic	1	100196319	100196319	Human	1	name
401942788	CV2839862	single nucleotide variant	NM_001918.5(DBT):c.535C>T (p.Arg179Cys)	not provided [RCV003456649]	uncertain significance	1	100218646	100218646	Human		name
405060140	CV2933836	single nucleotide variant	NM_001918.5(DBT):c.437C>A (p.Ser146Ter)	Maple syrup urine disease [RCV003522896]	pathogenic	1	100218744	100218744	Human	1	name
405139040	CV3038035	single nucleotide variant	NM_001918.5(DBT):c.676A>G (p.Met226Val)	Maple syrup urine disease [RCV003635648]	uncertain significance	1	100216079	100216079	Human	1	name
405149644	CV3058761	single nucleotide variant	NM_001918.5(DBT):c.881T>A (p.Leu294Ter)	Maple syrup urine disease [RCV003636702]	pathogenic	1	100214875	100214875	Human	1	name
405160377	CV3080382	single nucleotide variant	NM_001918.5(DBT):c.913C>T (p.Leu305Phe)	Maple syrup urine disease [RCV003637567]	uncertain significance	1	100214843	100214843	Human	1	name
405689639	CV3246477	single nucleotide variant	NM_001918.5(DBT):c.641G>A (p.Gly214Glu)	Inborn genetic diseases [RCV004373047]	uncertain significance	1	100216114	100216114	Human	1	name
405873564	CV3398649	single nucleotide variant	NM_001918.5(DBT):c.881T>G (p.Leu294Ter)	Maple syrup urine disease type 2 [RCV004576125]	likely pathogenic	1	100214875	100214875	Human	1	name
407573311	CV3499113	single nucleotide variant	NM_001918.5(DBT):c.789G>A (p.Met263Ile)	not specified [RCV004700085]	uncertain significance	1	100214967	100214967	Human		name
596930863	CV3540339	single nucleotide variant	NM_001918.5(DBT):c.532C>T (p.Arg178Cys)	Maple syrup urine disease type 2 [RCV004792327]	uncertain significance	1	100218649	100218649	Human	1	name
12738565	CV356979	single nucleotide variant	NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	Maple syrup urine disease [RCV000409585]\|Maple syrup urine disease type 1A [RCV004567878]	pathogenic\|likely pathogenic	1	100216030	100216030	Human	2	name
597767220	CV3723671	single nucleotide variant	NM_001918.5(DBT):c.437C>G (p.Ser146Ter)	Maple syrup urine disease type 2 [RCV005019851]	likely pathogenic	1	100218744	100218744	Human	1	name
597910148	CV3770330	single nucleotide variant	NM_001918.5(DBT):c.978C>G (p.Asn326Lys)	Maple syrup urine disease [RCV005113631]	uncertain significance	1	100210733	100210733	Human	1	name
597884318	CV3799595	single nucleotide variant	NM_001918.5(DBT):c.610G>T (p.Asp204Tyr)	Maple syrup urine disease [RCV005150262]	uncertain significance	1	100216145	100216145	Human	1	name
598252120	CV3963502	single nucleotide variant	NM_001918.5(DBT):c.631A>G (p.Lys211Glu)	Inborn genetic diseases [RCV005323190]	uncertain significance	1	100216124	100216124	Human	1	name
12913007	CV421147	single nucleotide variant	NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	Maple syrup urine disease [RCV000984157]\|Maple syrup urine disease type 1A [RCV005430540]\|not provided [RCV000493274]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100230765	100230765	Human	2	name
13216460	CV430989	single nucleotide variant	NM_001918.5(DBT):c.902G>A (p.Arg301His)	Maple syrup urine disease [RCV000503792]\|Maple syrup urine disease type 2 [RCV004568642]\|not specified [RCV003488640]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100214854	100214854	Human	2	name
13493439	CV446938	single nucleotide variant	NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	Maple syrup urine disease [RCV000535685]\|Maple syrup urine disease type 1A [RCV005430545]\|not specified [RCV001844190]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100214884	100214884	Human	2	name
13614294	CV514911	single nucleotide variant	NM_001918.5(DBT):c.311A>G (p.Asp104Gly)	Maple syrup urine disease [RCV000631890]	pathogenic\|likely pathogenic	1	100230855	100230855	Human	1	name
13791683	CV540634	single nucleotide variant	NM_001918.5(DBT):c.788T>C (p.Met263Thr)	Maple syrup urine disease [RCV000667766]\|Maple syrup urine disease type 1A [RCV005430575]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100214968	100214968	Human	2	name
13792377	CV540637	indel	NM_001918.5(DBT):c.52-48_52-45delinsTAC	Maple syrup urine disease type 1A [RCV005430602]	likely benign	1	100240929	100240932	Human		name
13787947	CV540659	single nucleotide variant	NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	Maple syrup urine disease [RCV000673717]\|Maple syrup urine disease type 1A [RCV004568559]	pathogenic\|likely pathogenic	1	100216121	100216121	Human	2	name
13818644	CV556539	single nucleotide variant	NM_001918.5(DBT):c.709G>C (p.Val237Leu)	Maple syrup urine disease [RCV000693848]	uncertain significance	1	100216046	100216046	Human	1	name
14739430	CV626466	single nucleotide variant	NM_001918.5(DBT):c.673A>C (p.Ile225Leu)	Maple syrup urine disease [RCV000821362]	drug response\|uncertain significance	1	100216082	100216082	Human	1	name
21070430	CV789811	duplication	NM_001918.5(DBT):c.1082dup (p.Asn361fs)	Maple syrup urine disease [RCV000986388]	pathogenic	1	100206571	100206572	Human	1	name
21070433	CV789812	single nucleotide variant	NM_001918.5(DBT):c.442G>T (p.Glu148Ter)	Maple syrup urine disease [RCV000986389]	pathogenic\|likely pathogenic	1	100218739	100218739	Human	1	name
26892437	CV822355	duplication	NM_001918.5(DBT):c.1264dup (p.Ala422fs)	Maple syrup urine disease [RCV001046944]	pathogenic\|likely pathogenic	1	100206246	100206247	Human	1	name
26894368	CV822357	single nucleotide variant	NM_001918.5(DBT):c.853A>C (p.Thr285Pro)	Maple syrup urine disease [RCV001069298]	uncertain significance	1	100214903	100214903	Human	1	name
38462322	CV918537	single nucleotide variant	NM_001918.5(DBT):c.391G>A (p.Val131Met)	Maple syrup urine disease [RCV001198107]	uncertain significance	1	100230775	100230775	Human	1	name
38479461	CV929888	single nucleotide variant	NM_001918.5(DBT):c.932T>C (p.Phe311Ser)	Maple syrup urine disease [RCV001205986]	uncertain significance	1	100214824	100214824	Human	1	name
38494917	CV951979	single nucleotide variant	NM_001918.5(DBT):c.572T>G (p.Val191Gly)	Inborn genetic diseases [RCV002564006]\|Maple syrup urine disease [RCV001241632]	uncertain significance	1	100216183	100216183	Human	2	name
40888630	CV971630	single nucleotide variant	NM_001918.5(DBT):c.961C>T (p.Gln321Ter)	Maple syrup urine disease [RCV001263639]\|Maple syrup urine disease type 1A [RCV004570653]	pathogenic\|likely pathogenic	1	100210750	100210750	Human	2	name
40888631	CV971631	single nucleotide variant	NM_001918.5(DBT):c.298G>T (p.Glu100Ter)	Maple syrup urine disease [RCV001263640]	likely pathogenic	1	100230868	100230868	Human	1	name
8640922	CV99908	single nucleotide variant	NM_001918.5(DBT):c.577G>A (p.Gly193Ser)	Maple syrup urine disease [RCV000558178]\|not provided [RCV000079948]	uncertain significance	1	100216178	100216178	Human	1	name
8640925	CV99911	single nucleotide variant	NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	Maple syrup urine disease [RCV000179397]\|Maple syrup urine disease type 1A [RCV004566954]\|Maple syrup urine disease type 2 [RCV002298465]\|not provided [RCV000079951]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	100216085	100216085	Human	3	name
8640926	CV99912	single nucleotide variant	NM_001918.5(DBT):c.715A>G (p.Ile239Val)	Maple syrup urine disease [RCV000357637]\|not provided [RCV004714407]\|not specified [RCV000079952]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100216040	100216040	Human	1	name
8640927	CV99913	single nucleotide variant	NM_001918.5(DBT):c.724T>C (p.Ser242Pro)	Maple syrup urine disease [RCV000551526]\|Maple syrup urine disease type 1A [RCV003654198]\|not provided [RCV000224772]\|not specified [RCV000079953]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	100216031	100216031	Human	2	name
8640931	CV99917	single nucleotide variant	NM_001918.5(DBT):c.871C>T (p.Arg291Ter)	Maple syrup urine disease [RCV002514405]\|not provided [RCV000179837]	pathogenic	1	100214885	100214885	Human	1	name
8640932	CV99918	single nucleotide variant	NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	Maple syrup urine disease [RCV000179836]\|Maple syrup urine disease type 1A [RCV004566955]\|Maple syrup urine disease type 2 [RCV005003456]\|not provided [RCV000079959]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	1	100214855	100214855	Human	3	name
8640933	CV99919	single nucleotide variant	NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	Maple syrup urine disease [RCV000179839]\|Maple syrup urine disease type 1A [RCV005430119]\|Maple syrup urine disease type 2 [RCV001250158]\|not provided [RCV000790732]	pathogenic\|likely pathogenic	1	100214817	100214817	Human	3	name
126748421	CV1022443	single nucleotide variant	NM_001918.5(DBT):c.1385G>A (p.Arg462His)	Maple syrup urine disease [RCV001337652]	uncertain significance	1	100196319	100196319	Human	1	name
150481952	CV1244192	single nucleotide variant	NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)	Maple syrup urine disease [RCV003523103]\|not provided [RCV001653038]	pathogenic\|uncertain significance	1	100196412	100196412	Human	1	name
151348442	CV1324034	single nucleotide variant	NM_001918.5(DBT):c.1196C>G (p.Ser399Cys)	Maple syrup urine disease [RCV001807947]	likely pathogenic	1	100206458	100206458	Human	1	name
151754813	CV1340194	single nucleotide variant	NM_001918.5(DBT):c.1283C>T (p.Ala428Val)	Maple syrup urine disease [RCV001894695]	uncertain significance	1	100196421	100196421	Human	1	name
8659406	CV134332	single nucleotide variant	NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	Maple syrup urine disease [RCV001000210]\|Maple syrup urine disease type 1A [RCV003654200]\|not provided [RCV001675620]\|not specified [RCV000116865]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	100206504	100206504	Human	9	name
8659406	CV134332	single nucleotide variant	NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	Maple syrup urine disease [RCV001000210]\|Maple syrup urine disease type 1A [RCV003654200]\|not provided [RCV001675620]\|not specified [RCV000116865]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	100206504	100206505	Human	9	name
151774464	CV1413435	single nucleotide variant	NM_001918.5(DBT):c.1276A>G (p.Ile426Val)	Maple syrup urine disease [RCV001971498]	uncertain significance	1	100206235	100206235	Human	1	name
151773193	CV1414386	single nucleotide variant	NM_001918.5(DBT):c.1324C>T (p.Gln442Ter)	Maple syrup urine disease [RCV001874647]	pathogenic	1	100196380	100196380	Human	1	name
151713419	CV1428788	single nucleotide variant	NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)	Maple syrup urine disease [RCV002002443]	pathogenic	1	100206279	100206279	Human	1	name
151880802	CV1437136	single nucleotide variant	NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)	Maple syrup urine disease [RCV001999539]	likely pathogenic	1	100196320	100196320	Human	1	name
151808125	CV1483454	single nucleotide variant	NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)	Maple syrup urine disease [RCV001918341]\|Maple syrup urine disease type 2 [RCV005050453]	pathogenic	1	100196319	100196319	Human	2	name
151854122	CV1485362	single nucleotide variant	NM_001918.5(DBT):c.1061T>C (p.Leu354Ser)	Maple syrup urine disease [RCV002033557]	uncertain significance	1	100206593	100206593	Human	1	name
151844887	CV1496491	single nucleotide variant	NM_001918.5(DBT):c.1212T>G (p.Ile404Met)	Maple syrup urine disease [RCV001921982]	uncertain significance	1	100206299	100206299	Human	1	name
152153243	CV1579275	single nucleotide variant	NM_001918.5(DBT):c.1051G>C (p.Glu351Gln)	Maple syrup urine disease [RCV002158505]	likely benign	1	100206603	100206603	Human	1	name
152064218	CV1606715	single nucleotide variant	NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)	Maple syrup urine disease [RCV002209091]	likely benign\|conflicting interpretations of pathogenicity	1	100196395	100196395	Human	1	name
9692874	CV177318	single nucleotide variant	NM_001918.5(DBT):c.1024C>T (p.His342Tyr)	not provided [RCV000153137]\|not specified [RCV004689629]	uncertain significance	1	100206630	100206630	Human		name
156289690	CV1890655	single nucleotide variant	NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)	Maple syrup urine disease [RCV003087431]\|Maple syrup urine disease type 2 [RCV005002948]	likely pathogenic	1	100206252	100206252	Human	2	name
156437019	CV1936846	single nucleotide variant	NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)	Maple syrup urine disease [RCV003106547]	uncertain significance	1	100206247	100206247	Human	1	name
156442433	CV1938667	single nucleotide variant	NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)	Maple syrup urine disease [RCV003112777]	uncertain significance	1	100196284	100196284	Human	1	name
156449291	CV1944558	single nucleotide variant	NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)	Maple syrup urine disease [RCV003121409]	uncertain significance	1	100196332	100196332	Human	1	name
10058770	CV199937	single nucleotide variant	NM_001918.5(DBT):c.1261G>T (p.Gly421Trp)	Maple syrup urine disease [RCV001053968]\|Maple syrup urine disease type 1A [RCV005252796]	likely pathogenic\|uncertain significance	1	100206250	100206250	Human	2	name
156208477	CV2000791	single nucleotide variant	NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)	Inborn genetic diseases [RCV002649955]\|Maple syrup urine disease [RCV002666754]	uncertain significance	1	100206292	100206292	Human	2	name
156371921	CV2007844	single nucleotide variant	NM_001918.5(DBT):c.1002G>T (p.Gln334His)	Maple syrup urine disease [RCV002676971]	uncertain significance	1	100210709	100210709	Human	1	name
156062180	CV2057430	single nucleotide variant	NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)	Maple syrup urine disease [RCV002797138]	uncertain significance	1	100196329	100196329	Human	1	name
156241073	CV2101454	single nucleotide variant	NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)	Maple syrup urine disease [RCV002894911]	uncertain significance	1	100196310	100196310	Human	1	name
156003218	CV2106891	single nucleotide variant	NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)	Maple syrup urine disease [RCV002947888]	uncertain significance	1	100206281	100206281	Human	1	name
155901423	CV2242005	single nucleotide variant	NM_001918.5(DBT):c.1366G>A (p.Asp456Asn)	Inborn genetic diseases [RCV002748775]	uncertain significance	1	100196338	100196338	Human	1	name
11051339	CV225800	single nucleotide variant	NM_001918.5(DBT):c.1033G>A (p.Gly345Arg)	Maple syrup urine disease [RCV000209922]	pathogenic	1	100206621	100206621	Human	1	name
329400841	CV2449732	single nucleotide variant	NM_001918.5(DBT):c.1286T>G (p.Ile429Ser)	Inborn genetic diseases [RCV003197851]	uncertain significance	1	100196418	100196418	Human	1	name
8598833	CV26986	single nucleotide variant	NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)	Maple syrup urine disease type 2 [RCV003581561]	pathogenic	1	100196256	100196256	Human	1	name
8598836	CV26991	single nucleotide variant	NM_001918.5(DBT):c.1355A>G (p.His452Arg)	Maple syrup urine disease type 2 [RCV003581564]	pathogenic	1	100196349	100196349	Human	1	name
11580084	CV275639	single nucleotide variant	NM_001918.5(DBT):c.1111G>A (p.Ala371Thr)	Maple syrup urine disease [RCV000322450]	uncertain significance	1	100206543	100206543	Human	1	name
401947145	CV2834009	single nucleotide variant	NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)	Maple syrup urine disease [RCV003466107]	likely pathogenic	1	100206237	100206237	Human	1	name
401947147	CV2834013	single nucleotide variant	NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)	Maple syrup urine disease [RCV003466111]	pathogenic	1	100206522	100206522	Human	1	name
405150321	CV3062440	single nucleotide variant	NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)	Maple syrup urine disease [RCV003636763]	likely pathogenic	1	100206273	100206273	Human	1	name
405706114	CV3225207	single nucleotide variant	NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)	Maple syrup urine disease type 2 [RCV003990261]	likely pathogenic	1	100206455	100206455	Human	1	name
405711465	CV3225900	single nucleotide variant	NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)	Maple syrup urine disease type 2 [RCV003990960]	likely pathogenic	1	100196358	100196358	Human	1	name
405689629	CV3246475	single nucleotide variant	NM_001918.5(DBT):c.1168G>C (p.Asp390His)	Inborn genetic diseases [RCV004373045]	uncertain significance	1	100206486	100206486	Human	1	name
405854620	CV3392490	single nucleotide variant	NM_001918.5(DBT):c.1274C>G (p.Ser425Ter)	Maple syrup urine disease type 2 [RCV004527510]	likely pathogenic	1	100206237	100206237	Human	1	name
407475359	CV3494675	single nucleotide variant	NM_001918.5(DBT):c.1192C>T (p.Leu398Phe)	not specified [RCV004690574]	uncertain significance	1	100206462	100206462	Human		name
597673134	CV3651851	single nucleotide variant	NM_001918.5(DBT):c.1094G>C (p.Cys365Ser)	Inborn genetic diseases [RCV004981601]	uncertain significance	1	100206560	100206560	Human	1	name
597910131	CV3770328	single nucleotide variant	NM_001918.5(DBT):c.1351G>C (p.Asp451His)	Maple syrup urine disease [RCV005113629]	uncertain significance	1	100196353	100196353	Human	1	name
597894210	CV3785552	single nucleotide variant	NM_001918.5(DBT):c.1087C>T (p.Gln363Ter)	Maple syrup urine disease [RCV005126138]	pathogenic	1	100206567	100206567	Human	1	name
598252125	CV3963503	single nucleotide variant	NM_001918.5(DBT):c.1184C>G (p.Thr395Arg)	Inborn genetic diseases [RCV005323191]	uncertain significance	1	100206470	100206470	Human	1	name
13792076	CV540623	single nucleotide variant	NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	Maple syrup urine disease [RCV000668260]\|Maple syrup urine disease type 1A [RCV004568514]\|Maple syrup urine disease type 2 [RCV005004334]\|not specified [RCV004526740]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100206452	100206452	Human	3	name
13790651	CV540625	single nucleotide variant	NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	Maple syrup urine disease [RCV000666706]\|Maple syrup urine disease type 1A [RCV005430445]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100206459	100206459	Human	2	name
13787109	CV540628	single nucleotide variant	NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	Maple syrup urine disease [RCV000673281]\|Maple syrup urine disease type 1A [RCV005430762]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100196322	100196322	Human	2	name
13783020	CV540630	single nucleotide variant	NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	Maple syrup urine disease [RCV000669588]\|Maple syrup urine disease type 1A [RCV005430630]\|not provided [RCV000760490]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100196304	100196304	Human	2	name
13783651	CV540632	single nucleotide variant	NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	Maple syrup urine disease [RCV000670216]\|Maple syrup urine disease type 1A [RCV005430659]\|Maple syrup urine disease type 2 [RCV005010662]\|not provided [RCV001092053]\|not specified [RCV001797779]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100206528	100206528	Human	3	name
13782990	CV540636	duplication	NM_001918.5(DBT):c.82_84dup (p.Asn28dup)	Maple syrup urine disease [RCV000669554]\|Maple syrup urine disease type 1A [RCV005430629]	uncertain significance	1	100240851	100240852	Human	2	name
13786189	CV540654	single nucleotide variant	NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	Maple syrup urine disease [RCV000672644]\|Maple syrup urine disease type 1A [RCV005430738]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100196361	100196361	Human	2	name
13815145	CV556537	single nucleotide variant	NM_001918.5(DBT):c.1217G>T (p.Gly406Val)	Maple syrup urine disease [RCV000691390]\|not specified [RCV003330901]	uncertain significance	1	100206294	100206294	Human	1	name
14700526	CV623123	single nucleotide variant	NM_001918.5(DBT):c.1190C>T (p.Thr397Ile)	Maple syrup urine disease type 2 [RCV000790387]	uncertain significance	1	100206464	100206464	Human	1	name
26901847	CV822356	single nucleotide variant	NM_001918.5(DBT):c.1170T>G (p.Asp390Glu)	Maple syrup urine disease [RCV001071699]	uncertain significance	1	100206484	100206484	Human	1	name
28883418	CV861753	single nucleotide variant	NM_001918.5(DBT):c.1364T>C (p.Ile455Thr)	Maple syrup urine disease [RCV001097492]	uncertain significance	1	100196340	100196340	Human	1	name
28888939	CV861754	single nucleotide variant	NM_001918.5(DBT):c.1036A>G (p.Ile346Val)	Maple syrup urine disease [RCV001099249]	uncertain significance	1	100206618	100206618	Human	1	name
38496880	CV951978	single nucleotide variant	NM_001918.5(DBT):c.1171C>T (p.Leu391Phe)	Maple syrup urine disease [RCV001242841]	uncertain significance	1	100206483	100206483	Human	1	name
39456572	CV965749	single nucleotide variant	NM_001918.5(DBT):c.1184C>T (p.Thr395Ile)	Maple syrup urine disease [RCV001255378]	likely pathogenic	1	100206470	100206470	Human	1	name
40889220	CV971629	single nucleotide variant	NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)	Maple syrup urine disease [RCV001264214]	likely pathogenic	1	100206446	100206446	Human	1	name
8640896	CV99882	single nucleotide variant	NM_001918.5(DBT):c.1024C>G (p.His342Asp)	not provided [RCV000079922]	uncertain significance	1	100206630	100206630	Human		name
8640897	CV99883	single nucleotide variant	NM_001918.5(DBT):c.1096T>C (p.Ser366Pro)	not provided [RCV000079923]	uncertain significance	1	100206558	100206558	Human		name
8640898	CV99884	single nucleotide variant	NM_001918.5(DBT):c.1127G>A (p.Arg376His)	Maple syrup urine disease [RCV000272096]\|not provided [RCV000079924]	uncertain significance	1	100206527	100206527	Human	1	name
8640899	CV99885	single nucleotide variant	NM_001918.5(DBT):c.1133A>C (p.Gln378Pro)	not provided [RCV000079925]	uncertain significance	1	100206521	100206521	Human		name
8640900	CV99886	single nucleotide variant	NM_001918.5(DBT):c.1133A>G (p.Gln378Arg)	not provided [RCV000591548]	uncertain significance	1	100206521	100206521	Human		name
8640904	CV99890	single nucleotide variant	NM_001918.5(DBT):c.1258A>G (p.Ile420Val)	not provided [RCV000079930]	uncertain significance	1	100206253	100206253	Human		name
8640907	CV99893	single nucleotide variant	NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	Maple syrup urine disease [RCV000174059]\|Maple syrup urine disease type 1A [RCV005430117]\|Maple syrup urine disease type 2 [RCV005003455]\|not provided [RCV000790685]	pathogenic\|likely pathogenic	1	100196413	100196413	Human	3	name
8640908	CV99894	single nucleotide variant	NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)	Maple syrup urine disease [RCV000664496]\|Maple syrup urine disease type 1A [RCV005430118]\|not provided [RCV000079934]	uncertain significance	1	100196356	100196356	Human	2	name
8640909	CV99895	single nucleotide variant	NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)	DBT-related disorder [RCV003935037]\|Maple syrup urine disease [RCV000280987]\|not provided [RCV000079935]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	100196286	100196286	Human	2	name , trait , alternate_id
8640910	CV99896	single nucleotide variant	NM_001918.5(DBT):c.1430T>G (p.Met477Arg)	Maple syrup urine disease [RCV000702839]\|not provided [RCV000079936]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	1	100196274	100196274	Human	1	name
8640911	CV99897	single nucleotide variant	NM_001918.5(DBT):c.1447T>C (p.Ter483Arg)	not provided [RCV000174060]	likely pathogenic	1	100196257	100196257	Human		name
151847916	CV1352813	microsatellite	NM_001918.5(DBT):c.113_114del (p.Cys38fs)	Maple syrup urine disease [RCV001922374]\|Maple syrup urine disease type 2 [RCV005016774]	pathogenic\|likely pathogenic	1	100240822	100240823	Human		name
151793494	CV1434111	duplication	NM_001918.5(DBT):c.143_146dup (p.His49fs)	Maple syrup urine disease [RCV001866468]	pathogenic\|likely pathogenic	1	100240789	100240790	Human	1	name
155724925	CV1783469	microsatellite	NM_001918.5(DBT):c.111_114del (p.Cys38fs)	Maple syrup urine disease [RCV002306913]	likely pathogenic	1	100240822	100240825	Human		name
13614291	CV514893	microsatellite	NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	Maple syrup urine disease [RCV000631895]\|Maple syrup urine disease type 1A [RCV004568375]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	100230901	100230903	Human		name
13786963	CV540629	deletion	NM_001918.5(DBT):c.258_277del (p.Lys87fs)	Maple syrup urine disease type 1A [RCV005430759]	likely pathogenic	1	100230889	100230908	Human	1	name
13788773	CV540633	microsatellite	NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)	Maple syrup urine disease [RCV000665578]\|Maple syrup urine disease type 1A [RCV005430412]	uncertain significance	1	100240766	100240768	Human		name
8640916	CV99902	deletion	NM_001918.5(DBT):c.272_275del (p.Thr91fs)	Maple syrup urine disease [RCV003635902]\|not provided [RCV000178172]	pathogenic	1	100230891	100230894	Human	1	name
127248225	CV1058366	deletion	NM_001918.5(DBT):c.910_919del (p.Lys304fs)	Maple syrup urine disease [RCV001384866]	pathogenic	1	100214837	100214846	Human	1	name
127266432	CV1058367	deletion	NM_001918.5(DBT):c.365_366del (p.Tyr122fs)	Maple syrup urine disease [RCV001381704]	pathogenic	1	100230800	100230801	Human	1	name
151351960	CV1322157	microsatellite	NM_001918.5(DBT):c.363_364del (p.Tyr122fs)	Maple syrup urine disease [RCV001806780]\|Maple syrup urine disease type 2 [RCV005006064]	pathogenic	1	100230802	100230803	Human		name
151867712	CV1429572	deletion	NM_001918.5(DBT):c.961_962del (p.Gln321fs)	Maple syrup urine disease [RCV002035265]	pathogenic	1	100210749	100210750	Human	1	name
151885300	CV1431863	deletion	NM_001918.5(DBT):c.531_537del (p.Arg178fs)	Maple syrup urine disease [RCV002037725]	pathogenic	1	100218644	100218650	Human	1	name
151758032	CV1438829	deletion	NM_001918.5(DBT):c.516_522del (p.Ala173fs)	Maple syrup urine disease [RCV002007536]	pathogenic	1	100218659	100218665	Human	1	name
155736466	CV1782168	deletion	NM_001918.5(DBT):c.775_778del (p.Phe259fs)	Maple syrup urine disease [RCV002309909]	likely pathogenic	1	100214978	100214981	Human	1	name
155735866	CV1783291	microsatellite	NM_001918.5(DBT):c.743_744del (p.Thr248fs)	Maple syrup urine disease [RCV002309448]	likely pathogenic	1	100216011	100216012	Human		name
155729870	CV1784506	deletion	NM_001918.5(DBT):c.567_568del (p.Ser189fs)	Maple syrup urine disease [RCV002308454]	likely pathogenic	1	100216187	100216188	Human	1	name
156136783	CV2165746	deletion	NM_001918.5(DBT):c.501_513del (p.Lys167fs)	Maple syrup urine disease [RCV003022380]	pathogenic	1	100218668	100218680	Human	1	name
156327764	CV2184529	deletion	NM_001918.5(DBT):c.799_800del (p.Met267fs)	Maple syrup urine disease [RCV003047031]	pathogenic	1	100214956	100214957	Human	1	name
8562826	CV26990	deletion	NM_001918.3(DBT):c.1282-4142_*(434_435)del	Maple syrup urine disease type 2 [RCV000012729]	pathogenic	1	100195821	100200563	Human	1	name
405165509	CV3016523	deletion	NM_001918.5(DBT):c.947_950del (p.Ser316fs)	Maple syrup urine disease [RCV003638017]	pathogenic	1	100210761	100210764	Human	1	name
13791907	CV540626	microsatellite	NM_001918.5(DBT):c.438AGA[2] (p.Glu148del)	Maple syrup urine disease type 1A [RCV005430581]	uncertain significance	1	100218735	100218737	Human		name
13788655	CV540664	microsatellite	NM_001918.5(DBT):c.449TTG[1] (p.Val151del)	Maple syrup urine disease [RCV000665504]\|Maple syrup urine disease type 1A [RCV005430409]\|not provided [RCV004777816]	uncertain significance	1	100218727	100218729	Human		name
14396493	CV612251	deletion	NM_001918.5(DBT):c.663_670del (p.Lys222fs)	Maple syrup urine disease [RCV000761468]	pathogenic	1	100216085	100216092	Human	1	name
38493000	CV921532	microsatellite	NM_001918.5(DBT):c.488_489del (p.His163fs)	Maple syrup urine disease [RCV001223966]	pathogenic	1	100218692	100218693	Human		name
8640917	CV99903	deletion	NM_001918.5(DBT):c.339_345del (p.Tyr114fs)	not provided [RCV000178170]	pathogenic	1	100230821	100230827	Human		name
401947149	CV2834015	insertion	NM_001918.5(DBT):c.511_512insG (p.Thr171fs)	Maple syrup urine disease [RCV003466113]	likely pathogenic	1	100218669	100218670	Human	1	name
597884313	CV3799594	deletion	NM_001918.5(DBT):c.612_614del (p.Ile205del)	Maple syrup urine disease [RCV005150261]	uncertain significance	1	100216141	100216143	Human	1	name
13787649	CV540639	deletion	NM_001918.5(DBT):c.641_643del (p.Gly214del)	Maple syrup urine disease type 1A [RCV005430397]	likely benign	1	100216112	100216114	Human	1	name
156175609	CV2053561	deletion	NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)	Maple syrup urine disease [RCV002802089]	pathogenic	1	100196353	100196362	Human	1	name
155726259	CV1783751	indel	NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)	Maple syrup urine disease [RCV002307195]	likely pathogenic	1	100214978	100214979	Human		name
8562822	CV26983	insertion	NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA	Maple syrup urine disease type 2 [RCV003581559]	pathogenic				Human	1	name
405866535	CV3400257	indel	NM_001918.5(DBT):c.917_918delinsT (p.Ser306fs)	Maple syrup urine disease type 1A [RCV004575762]	likely pathogenic	1	100214838	100214839	Human		name
597758999	CV3720026	deletion	NM_001918.5(DBT):c.160del (p.Phe53_Leu54insTer)	Maple syrup urine disease type 2 [RCV005017919]	likely pathogenic	1	100240776	100240776	Human	1	name
155726377	CV1783779	indel	NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)	Maple syrup urine disease [RCV002307223]	likely pathogenic	1	100216140	100216159	Human		name
13816654	CV556510	duplication	NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup)	Maple syrup urine disease [RCV000706496]	uncertain significance	1	100210735	100210736	Human	1	name
13828874	CV581742	deletion	NM_001918.5(DBT):c.367_372del (p.Tyr123_Asn124del)	Maple syrup urine disease [RCV000721996]	uncertain significance	1	100230794	100230799	Human	1	name
151821850	CV1415550	deletion	NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)	Maple syrup urine disease [RCV001900959]	pathogenic	1	100235445	100235446	Human	1	name
13789508	CV540635	microsatellite	NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer)	Maple syrup urine disease type 1A [RCV005430426]	likely pathogenic	1	100240794	100240795	Human		name
151741106	CV1466665	microsatellite	NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer)	Maple syrup urine disease [RCV001911936]	pathogenic	1	100196368	100196371	Human		name
401931393	CV2798313	indel	NM_001918.5(DBT):c.1210-62_1220delinsATCTAAAAAAATAGATCA	DBT-related disorder [RCV003391364]	likely pathogenic	1	100206291	100206363	Human		name , trait , alternate_id
13784591	CV540627	deletion	NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)	Maple syrup urine disease [RCV000671028]\|Maple syrup urine disease type 1A [RCV005430688]	likely pathogenic	1	100206488	100206489	Human	2	name
401947140	CV2834003	microsatellite	NM_001918.5(DBT):c.136_137insTGACTATACTTCATTCA (p.Lys46fs)	Maple syrup urine disease [RCV003466102]	likely pathogenic	1	100240799	100240800	Human		name
156055777	CV1935131	indel	NM_001918.5(DBT):c.717_720delinsCAAACCTCCG (p.Leu240delinsLysProPro)	not specified [RCV002510419]	uncertain significance	1	100216035	100216038	Human		name

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