Btd Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

815 records found for search term Btd

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556528	CV16935	indel	BTD, 15-BP DEL/11-BP INS	Biotinidase deficiency [RCV000001973]	pathogenic				Human		name , alternate_id
405014612	CV3038425	single nucleotide variant	NM_001370658.1(BTD):c.-1T>C	Biotinidase deficiency [RCV003600197]	likely benign	3	15635439	15635439	Human	1	name , alternate_id
405872463	CV3399964	deletion	NM_001370658.1(BTD):c.-6del	Biotinidase deficiency [RCV004575467]	likely pathogenic	3	15635434	15635434	Human	1	name , alternate_id
127278201	CV1070475	single nucleotide variant	NM_001370658.1(BTD):c.-46T>C	Biotinidase deficiency [RCV001408355]	likely benign	3	15601865	15601865	Human	1	name , alternate_id
127281140	CV1070476	single nucleotide variant	NM_001370658.1(BTD):c.-22G>A	Biotinidase deficiency [RCV001410239]	likely benign	3	15601889	15601889	Human	1	name , alternate_id
127288356	CV1113703	single nucleotide variant	NM_001370658.1(BTD):c.-28C>T	Biotinidase deficiency [RCV001450450]	likely benign	3	15601883	15601883	Human	1	name , alternate_id
150414574	CV1176283	single nucleotide variant	NM_001281723.3(BTD):c.-74G>C	not provided [RCV001548192]	likely benign	3	15601713	15601713	Human		name
155945209	CV2111490	single nucleotide variant	NM_001370658.1(BTD):c.-51G>T	Biotinidase deficiency [RCV002904723]	uncertain significance	3	15601860	15601860	Human	1	name , alternate_id
243055975	CV2404262	single nucleotide variant	NM_001281723.3(BTD):c.-44G>T	not provided [RCV003129288]	uncertain significance	3	15601743	15601743	Human		name
401894125	CV2770324	single nucleotide variant	NM_001370658.1(BTD):c.-30C>G	Inborn genetic diseases [RCV003371175]	uncertain significance	3	15601881	15601881	Human	1	name
401949629	CV2838768	single nucleotide variant	NM_001370658.1(BTD):c.-24A>T	Biotinidase deficiency [RCV003474469]	likely pathogenic\|uncertain significance	3	15601887	15601887	Human	1	name , alternate_id
405113072	CV2881626	single nucleotide variant	NM_001370658.1(BTD):c.-18A>G	Biotinidase deficiency [RCV003499571]	uncertain significance	3	15601893	15601893	Human	1	name , alternate_id
11662270	CV289243	single nucleotide variant	NM_001370658.1(BTD):c.*57T>A	Biotinidase deficiency [RCV000384641]	uncertain significance	3	15645545	15645545	Human	1	name , alternate_id
11635669	CV293069	single nucleotide variant	NM_001370658.1(BTD):c.-87G>T	Biotinidase deficiency [RCV000381441]	uncertain significance	3	15601824	15601824	Human	1	name , alternate_id
11634908	CV293082	single nucleotide variant	NM_001370658.1(BTD):c.-65G>T	Biotinidase deficiency [RCV000291779]	uncertain significance	3	15601846	15601846	Human	1	name , alternate_id
12740073	CV357290	single nucleotide variant	NM_001370658.1(BTD):c.-18A>T	Biotinidase deficiency [RCV000411121]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15601893	15601893	Human	1	name , alternate_id
8601712	CV36438	single nucleotide variant	NM_001370658.1(BTD):c.-94C>T	Biotinidase deficiency [RCV000022029]\|not provided [RCV000755227]\|not specified [RCV000313163]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	15601817	15601817	Human	1	name , alternate_id
13791689	CV542845	single nucleotide variant	NM_001370658.1(BTD):c.-59T>A	Biotinidase deficiency [RCV000667774]	uncertain significance	3	15601852	15601852	Human	1	name , alternate_id
13790121	CV542846	single nucleotide variant	NM_001370658.1(BTD):c.-59T>C	Biotinidase deficiency [RCV000674871]	uncertain significance	3	15601852	15601852	Human	1	name , alternate_id
13787693	CV543085	single nucleotide variant	NM_001370658.1(BTD):c.-74G>A	Biotinidase deficiency [RCV000664987]	uncertain significance	3	15601837	15601837	Human	1	name , alternate_id
13784440	CV543086	single nucleotide variant	NM_001370658.1(BTD):c.-58G>A	Biotinidase deficiency [RCV000670834]	uncertain significance	3	15601853	15601853	Human	1	name , alternate_id
13790328	CV543121	single nucleotide variant	NM_001370658.1(BTD):c.-60A>G	Biotinidase deficiency [RCV000674979]	uncertain significance	3	15601851	15601851	Human	1	name , alternate_id
14703521	CV650316	deletion	NM_001370658.1(BTD):c.-18del	Biotinidase deficiency [RCV000794161]	pathogenic	3	15601893	15601893	Human	1	name , alternate_id
38481255	CV929853	single nucleotide variant	NM_001370658.1(BTD):c.-38G>A	Biotinidase deficiency [RCV001217923]	uncertain significance	3	15601873	15601873	Human	1	name , alternate_id
40906629	CV977814	single nucleotide variant	NM_001370658.1(BTD):c.-45A>T	Biotinidase deficiency [RCV001280041]	uncertain significance	3	15601866	15601866	Human	1	name , alternate_id
150504612	CV1211428	single nucleotide variant	NM_001281723.3(BTD):c.-119G>A	not provided [RCV001595593]	benign	3	15601668	15601668	Human		name
150475809	CV1239791	deletion	NM_001370658.1(BTD):c.*365del	not provided [RCV001651968]	benign	3	15645837	15645837	Human		name
150467290	CV1255882	single nucleotide variant	NM_001281723.3(BTD):c.-251A>G	not provided [RCV001670516]	benign	3	15601536	15601536	Human		name
150485095	CV1280646	deletion	NM_001370658.1(BTD):c.*348del	not provided [RCV001715518]	benign	3	15645833	15645833	Human		name
155267634	CV1705034	duplication	NM_001370658.1(BTD):c.*365dup	not provided [RCV002285639]	likely benign	3	15645836	15645837	Human		name
11635653	CV289227	single nucleotide variant	NM_001370658.1(BTD):c.-148C>T	Biotinidase deficiency [RCV000380207]\|not provided [RCV001354666]	conflicting interpretations of pathogenicity\|uncertain significance	3	15601763	15601763	Human	1	name , alternate_id
11634855	CV289229	single nucleotide variant	NM_001370658.1(BTD):c.-105C>T	Biotinidase deficiency [RCV000285810]\|not provided [RCV004694719]	uncertain significance	3	15601806	15601806	Human	1	name , alternate_id
11634946	CV289255	single nucleotide variant	NM_001370658.1(BTD):c.*211G>A	Biotinidase deficiency [RCV000290219]	uncertain significance	3	15645699	15645699	Human	1	name , alternate_id
13785186	CV542897	single nucleotide variant	NM_001370658.1(BTD):c.*159G>A	BTD-related disorder [RCV003945702]\|Biotinidase deficiency [RCV000671749]\|not specified [RCV002298730]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645647	15645647	Human	2	name , trait , alternate_id
126755284	CV1004558	single nucleotide variant	NM_001370658.1(BTD):c.249+5G>T	Biotinidase deficiency [RCV001316905]	uncertain significance	3	15635693	15635693	Human	1	name , alternate_id
127258290	CV1055310	single nucleotide variant	NM_001370658.1(BTD):c.-17+2T>C	Biotinidase deficiency [RCV001379913]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15601896	15601896	Human	1	name , alternate_id
127260165	CV1070479	single nucleotide variant	NM_001370658.1(BTD):c.400-8T>C	Biotinidase deficiency [RCV001402130]	likely benign	3	15644308	15644308	Human	1	name , alternate_id
127234033	CV1070480	single nucleotide variant	NM_001370658.1(BTD):c.400-4C>T	Biotinidase deficiency [RCV001396349]	likely benign	3	15644312	15644312	Human	1	name , alternate_id
127292159	CV1113704	single nucleotide variant	NM_001370658.1(BTD):c.-17+7A>C	Biotinidase deficiency [RCV001451705]	likely benign	3	15601901	15601901	Human	1	name , alternate_id
127315330	CV1113706	deletion	NM_001370658.1(BTD):c.399+8del	Biotinidase deficiency [RCV001465188]	likely benign	3	15642064	15642064	Human	1	name , alternate_id
127335158	CV1134601	single nucleotide variant	NM_001370658.1(BTD):c.400-6C>T	Biotinidase deficiency [RCV001491305]	likely benign	3	15644310	15644310	Human	1	name , alternate_id
155644550	CV1709982	single nucleotide variant	NM_001370658.1(BTD):c.249+2C>G	Biotinidase deficiency [RCV005416042]\|not provided [RCV002293082]	pathogenic\|uncertain significance	3	15635690	15635690	Human	1	name , alternate_id
155950412	CV1921911	single nucleotide variant	NM_001370658.1(BTD):c.-17+7A>G	Biotinidase deficiency [RCV002616193]	likely benign	3	15601901	15601901	Human	1	name , alternate_id
155904639	CV1975908	single nucleotide variant	NM_001370658.1(BTD):c.-16-5T>C	Biotinidase deficiency [RCV002613599]	likely benign	3	15635419	15635419	Human	1	name , alternate_id
156092603	CV2030679	single nucleotide variant	NM_001370658.1(BTD):c.-16-7A>G	Biotinidase deficiency [RCV002761004]	likely benign	3	15635417	15635417	Human	1	name , alternate_id
156108517	CV2072489	single nucleotide variant	NM_001370658.1(BTD):c.399+2T>G	Biotinidase deficiency [RCV002870804]	pathogenic	3	15642059	15642059	Human	1	name , alternate_id
156020682	CV2082614	single nucleotide variant	NM_001370658.1(BTD):c.-16-2A>G	Biotinidase deficiency [RCV002884942]	uncertain significance	3	15635422	15635422	Human	1	name , alternate_id
155911393	CV2084861	duplication	NM_001370658.1(BTD):c.399+6dup	Biotinidase deficiency [RCV002858519]	likely benign	3	15642061	15642062	Human	1	name , alternate_id
156015842	CV2087137	single nucleotide variant	NM_001370658.1(BTD):c.-16-7A>T	Biotinidase deficiency [RCV002866351]	likely benign	3	15635417	15635417	Human	1	name , alternate_id
156106322	CV2120916	single nucleotide variant	NM_001370658.1(BTD):c.-17+8G>C	Biotinidase deficiency [RCV002952927]	likely benign	3	15601902	15601902	Human	1	name , alternate_id
405109385	CV2867984	single nucleotide variant	NM_001370658.1(BTD):c.-17+7A>T	Biotinidase deficiency [RCV003499006]	likely benign	3	15601901	15601901	Human	1	name , alternate_id
405037267	CV3008190	deletion	NM_001370658.1(BTD):c.-16-7del	Biotinidase deficiency [RCV003602317]	likely benign	3	15635417	15635417	Human	1	name , alternate_id
405012894	CV3029955	single nucleotide variant	NM_001370658.1(BTD):c.399+8C>T	Biotinidase deficiency [RCV003600033]	likely benign	3	15642065	15642065	Human	1	name , alternate_id
402523209	CV3068093	single nucleotide variant	NM_001370658.1(BTD):c.400-7C>T	Biotinidase deficiency [RCV003601120]	likely benign	3	15644309	15644309	Human	1	name , alternate_id
405270848	CV3194138	single nucleotide variant	NM_001370658.1(BTD):c.*3052G>C	BTD-related disorder [RCV003893719]	likely benign	3	15648540	15648540	Human		name , trait , alternate_id
408379897	CV3517328	single nucleotide variant	NM_001370658.1(BTD):c.*2689C>T	BTD-related disorder [RCV004752483]	likely benign	3	15648177	15648177	Human		name , trait , alternate_id
12739493	CV357291	single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>A	Biotinidase deficiency [RCV000409752]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15601895	15601895	Human	1	name , alternate_id
12739751	CV357292	single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>C	Biotinidase deficiency [RCV000410337]	likely pathogenic	3	15601895	15601895	Human	1	name , alternate_id
12740402	CV357293	single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>T	Biotinidase deficiency [RCV000411884]	likely pathogenic	3	15601895	15601895	Human	1	name , alternate_id
12740598	CV357294	deletion	NM_001370658.1(BTD):c.-17+1del	Biotinidase deficiency [RCV000412426]	likely pathogenic	3	15601894	15601894	Human	1	name , alternate_id
12739497	CV357296	single nucleotide variant	NM_001370658.1(BTD):c.249+1G>T	Biotinidase deficiency [RCV000409760]	likely pathogenic	3	15635689	15635689	Human	1	name , alternate_id
8601620	CV36348	duplication	NM_001370658.1(BTD):c.400-8dup	Biotinidase deficiency [RCV000021929]\|not provided [RCV000178030]	benign\|uncertain significance	3	15644301	15644302	Human	1	name , alternate_id
597934980	CV3777144	single nucleotide variant	NM_001370658.1(BTD):c.250-1G>A	Biotinidase deficiency [RCV005117303]	likely pathogenic	3	15641907	15641907	Human	1	name , alternate_id
597880237	CV3826361	single nucleotide variant	NM_001370658.1(BTD):c.-16-7A>C	Biotinidase deficiency [RCV005178058]	likely benign	3	15635417	15635417	Human	1	name , alternate_id
597854177	CV3847717	deletion	NM_001370658.1(BTD):c.400-8del	Biotinidase deficiency [RCV005188445]	benign	3	15644302	15644302	Human	1	name , alternate_id
598242972	CV3894722	single nucleotide variant	NM_001370658.1(BTD):c.249+3A>G	Biotinidase deficiency [RCV005257928]	uncertain significance	3	15635691	15635691	Human	1	name , alternate_id
617150251	CV4016936	single nucleotide variant	NM_001370658.1(BTD):c.250-2A>G	Biotinidase deficiency [RCV005416059]	likely pathogenic	3	15641906	15641906	Human	1	name , alternate_id
617150254	CV4016938	single nucleotide variant	NM_001370658.1(BTD):c.-16-2A>C	Biotinidase deficiency [RCV005416061]	likely pathogenic	3	15635422	15635422	Human	1	name , alternate_id
13790774	CV543133	single nucleotide variant	NM_001370658.1(BTD):c.250-1G>T	Biotinidase deficiency [RCV000666795]	likely pathogenic	3	15641907	15641907	Human	1	name , alternate_id
13833223	CV584452	single nucleotide variant	NM_001370658.1(BTD):c.-17+4C>A	not provided [RCV000728413]	uncertain significance	3	15601898	15601898	Human		name
14395315	CV611290	single nucleotide variant	NM_001370658.1(BTD):c.400-2A>G	not provided [RCV000759008]	likely pathogenic	3	15644314	15644314	Human		name
38457124	CV920182	single nucleotide variant	NM_001370658.1(BTD):c.249+1G>A	Biotinidase deficiency [RCV001195863]	pathogenic	3	15635689	15635689	Human	1	name , alternate_id
150331676	CV1163429	single nucleotide variant	NM_001370658.1(BTD):c.-17+81A>C	not provided [RCV001527900]	benign	3	15601975	15601975	Human		name
152059245	CV1559014	single nucleotide variant	NM_001370658.1(BTD):c.249+15C>T	Biotinidase deficiency [RCV002167799]	likely benign	3	15635703	15635703	Human	1	name , alternate_id
152039620	CV1643972	single nucleotide variant	NM_001370658.1(BTD):c.400-10T>G	Biotinidase deficiency [RCV002125892]	likely benign	3	15644306	15644306	Human	1	name , alternate_id
152146846	CV1655978	single nucleotide variant	NM_001370658.1(BTD):c.-17+11G>A	Biotinidase deficiency [RCV002220182]	likely benign	3	15601905	15601905	Human	1	name , alternate_id
9586976	CV165810	deletion	NM_001370658.1(BTD):c.250-15del	Biotinidase deficiency [RCV000144063]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15641893	15641893	Human	1	name , alternate_id
155984202	CV1897091	single nucleotide variant	NM_001370658.1(BTD):c.-17+16G>A	Biotinidase deficiency [RCV003097527]	likely benign	3	15601910	15601910	Human	1	name , alternate_id
156023275	CV1899536	single nucleotide variant	NM_001370658.1(BTD):c.-17+20C>A	Biotinidase deficiency [RCV003100302]	likely benign	3	15601914	15601914	Human	1	name , alternate_id
156138325	CV1911210	single nucleotide variant	NM_001370658.1(BTD):c.400-18C>T	Biotinidase deficiency [RCV002623563]	likely benign	3	15644298	15644298	Human	1	name , alternate_id
155942937	CV1920806	single nucleotide variant	NM_001370658.1(BTD):c.-17+13C>G	Biotinidase deficiency [RCV002615758]	benign	3	15601907	15601907	Human	1	name , alternate_id
401926259	CV2827191	single nucleotide variant	NM_001370658.1(BTD):c.399+33G>A	not provided [RCV003437718]	likely benign	3	15642090	15642090	Human		name
405109074	CV2877281	single nucleotide variant	NM_001370658.1(BTD):c.250-18T>C	Biotinidase deficiency [RCV003498868]	likely benign	3	15641890	15641890	Human	1	name , alternate_id
405104361	CV2907560	single nucleotide variant	NM_001370658.1(BTD):c.399+10G>A	Biotinidase deficiency [RCV003497699]	likely benign	3	15642067	15642067	Human	1	name , alternate_id
405027895	CV2974935	single nucleotide variant	NM_001370658.1(BTD):c.-16-19T>C	Biotinidase deficiency [RCV003601509]	likely benign	3	15635405	15635405	Human	1	name , alternate_id
402523287	CV3079615	single nucleotide variant	NM_001370658.1(BTD):c.400-16C>T	Biotinidase deficiency [RCV003601913]	likely benign	3	15644300	15644300	Human	1	name , alternate_id
405089230	CV3138176	single nucleotide variant	NM_001370658.1(BTD):c.250-15T>C	Biotinidase deficiency [RCV003834694]	likely benign	3	15641893	15641893	Human	1	name , alternate_id
405228880	CV3153409	single nucleotide variant	NM_001370658.1(BTD):c.250-16A>T	Biotinidase deficiency [RCV003848473]	likely benign	3	15641892	15641892	Human	1	name , alternate_id
405247792	CV3159049	single nucleotide variant	NM_001370658.1(BTD):c.399+19C>T	Biotinidase deficiency [RCV003869194]	likely benign	3	15642076	15642076	Human	1	name , alternate_id
405088561	CV3163613	single nucleotide variant	NM_001370658.1(BTD):c.-17+16G>C	Biotinidase deficiency [RCV003852121]	likely benign	3	15601910	15601910	Human	1	name , alternate_id
405197213	CV3168238	single nucleotide variant	NM_001370658.1(BTD):c.249+19A>C	Biotinidase deficiency [RCV003860370]	likely benign	3	15635707	15635707	Human	1	name , alternate_id
405271356	CV3218995	single nucleotide variant	NM_001370658.1(BTD):c.250-24A>G	BTD-related disorder [RCV003971723]	likely benign	3	15641884	15641884	Human		name , trait , alternate_id
597843694	CV3742802	single nucleotide variant	NM_001370658.1(BTD):c.400-19A>T	Biotinidase deficiency [RCV005076241]	likely benign	3	15644297	15644297	Human	1	name , alternate_id
597957419	CV3800514	single nucleotide variant	NM_001370658.1(BTD):c.249+11T>C	Biotinidase deficiency [RCV005137606]	likely benign	3	15635699	15635699	Human	1	name , alternate_id
597971794	CV3833134	single nucleotide variant	NM_001370658.1(BTD):c.250-14G>A	Biotinidase deficiency [RCV005167031]	likely benign	3	15641894	15641894	Human	1	name , alternate_id
597960721	CV3840301	single nucleotide variant	NM_001370658.1(BTD):c.249+16G>A	Biotinidase deficiency [RCV005192785]	likely benign	3	15635704	15635704	Human	1	name , alternate_id
597924594	CV3840437	single nucleotide variant	NM_001370658.1(BTD):c.-17+10G>A	Biotinidase deficiency [RCV005184906]	likely benign	3	15601904	15601904	Human	1	name , alternate_id
597854186	CV3847718	single nucleotide variant	NM_001370658.1(BTD):c.400-13T>C	Biotinidase deficiency [RCV005188446]	likely benign	3	15644303	15644303	Human	1	name , alternate_id
150422894	CV1179650	single nucleotide variant	NM_001370658.1(BTD):c.250-249G>A	not provided [RCV001553272]	likely benign	3	15641659	15641659	Human		name
150489461	CV1250857	single nucleotide variant	NM_001370658.1(BTD):c.-16-269G>C	not provided [RCV001674524]	benign	3	15635155	15635155	Human		name
150472121	CV1252193	single nucleotide variant	NM_001370658.1(BTD):c.-17+290G>A	not provided [RCV001671394]	benign	3	15602184	15602184	Human		name
150505864	CV1254725	single nucleotide variant	NM_001370658.1(BTD):c.400-271G>C	not provided [RCV001678030]	benign	3	15644045	15644045	Human		name
150468506	CV1259507	single nucleotide variant	NM_001370658.1(BTD):c.399+150T>C	not provided [RCV001683807]	benign	3	15642207	15642207	Human		name
150454151	CV1260617	single nucleotide variant	NM_001370658.1(BTD):c.400-285T>C	not provided [RCV001681110]	benign	3	15644031	15644031	Human		name
150463708	CV1263846	single nucleotide variant	NM_001370658.1(BTD):c.249+215A>G	not provided [RCV001682547]	benign	3	15635903	15635903	Human		name
401933744	CV2799734	single nucleotide variant	NM_001370658.1(BTD):c.-16-8407C>T	BTD-related disorder [RCV003410618]	uncertain significance	3	15627017	15627017	Human		name , trait , alternate_id
617150255	CV4016939	deletion	NM_001370658.1(BTD):c.-16-4_-14del	Biotinidase deficiency [RCV005416062]	likely pathogenic	3	15635417	15635423	Human	1	name , alternate_id
13791334	CV543090	deletion	NM_001370658.1(BTD):c.-17_-17+3del	Biotinidase deficiency [RCV000667343]	likely pathogenic	3	15601893	15601896	Human	1	name , alternate_id
401904954	CV2827193	single nucleotide variant	NM_001370752.1(BTD):c.1015+23142G>A	not provided [RCV003437720]	likely benign	3	15668073	15668073	Human		name
127260484	CV1092192	single nucleotide variant	NM_001370658.1(BTD):c.72C>T (p.Thr24=)	Biotinidase deficiency [RCV001427843]	likely benign	3	15635511	15635511	Human	1	name , alternate_id
127336056	CV1134597	single nucleotide variant	NM_001370658.1(BTD):c.81G>A (p.Glu27=)	Biotinidase deficiency [RCV001491917]	likely benign	3	15635520	15635520	Human	1	name , alternate_id
151782161	CV1439322	deletion	NM_001370658.1(BTD):c.-17+19_-17+39del	Biotinidase deficiency [RCV002009845]	uncertain significance	3	15601908	15601928	Human	1	name , alternate_id
152096957	CV1587004	single nucleotide variant	NM_001370658.1(BTD):c.99C>T (p.His33=)	Biotinidase deficiency [RCV002078478]\|not provided [RCV003438934]	likely benign	3	15635538	15635538	Human	1	name , alternate_id
152094829	CV1599402	duplication	NM_001370658.1(BTD):c.-17+23_-17+27dup	Biotinidase deficiency [RCV002094696]	likely benign	3	15601912	15601913	Human	1	name , alternate_id
401866918	CV2769780	single nucleotide variant	NM_001370658.1(BTD):c.5C>T (p.Ser2Phe)	Inborn genetic diseases [RCV003360125]	uncertain significance	3	15635444	15635444	Human	1	name
405115239	CV2894032	single nucleotide variant	NM_001370658.1(BTD):c.84C>T (p.Ser28=)	Biotinidase deficiency [RCV003499854]	likely benign	3	15635523	15635523	Human	1	name , alternate_id
11635410	CV290016	single nucleotide variant	NM_001370658.1(BTD):c.48C>T (p.Tyr16=)	Biotinidase deficiency [RCV000346716]\|not provided [RCV003884503]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635487	15635487	Human	1	name , alternate_id
405030367	CV2978512	duplication	NM_001370658.1(BTD):c.-17+20_-17+40dup	Biotinidase deficiency [RCV003601715]	likely benign	3	15601913	15601914	Human	1	name , alternate_id
405012958	CV3022055	single nucleotide variant	NM_001370658.1(BTD):c.58C>T (p.Leu20=)	Biotinidase deficiency [RCV003599926]	likely benign	3	15635497	15635497	Human	1	name , alternate_id
405021440	CV3055077	single nucleotide variant	NM_001370658.1(BTD):c.96T>C (p.His32=)	Biotinidase deficiency [RCV003600939]	likely benign	3	15635535	15635535	Human	1	name , alternate_id
402516796	CV3178910	duplication	NM_001370658.1(BTD):c.-17+12_-17+27dup	Biotinidase deficiency [RCV003879343]	likely benign	3	15601903	15601904	Human	1	name , alternate_id
8601585	CV36312	single nucleotide variant	NM_001370658.1(BTD):c.39C>T (p.Cys13=)	Biotinidase deficiency [RCV000021887]\|not provided [RCV003430639]	benign\|likely benign	3	15635478	15635478	Human	1	name , alternate_id
597713452	CV3720925	single nucleotide variant	NM_001370658.1(BTD):c.3G>A (p.Met1Ile)	Biotinidase deficiency [RCV005035052]	likely pathogenic	3	15635442	15635442	Human	1	name , alternate_id
127273519	CV1092193	single nucleotide variant	NM_001370658.1(BTD):c.123C>T (p.Ala41=)	Biotinidase deficiency [RCV001442571]	likely benign	3	15635562	15635562	Human	1	name , alternate_id
127291349	CV1113705	single nucleotide variant	NM_001370658.1(BTD):c.255A>C (p.Val85=)	Biotinidase deficiency [RCV001476050]	likely benign	3	15641913	15641913	Human	1	name , alternate_id
127328990	CV1134598	single nucleotide variant	NM_001370658.1(BTD):c.183G>A (p.Glu61=)	Biotinidase deficiency [RCV001487131]	likely benign	3	15635622	15635622	Human	1	name , alternate_id
127317530	CV1134599	single nucleotide variant	NM_001370658.1(BTD):c.225G>A (p.Gln75=)	Biotinidase deficiency [RCV001503413]	likely benign	3	15635664	15635664	Human	1	name , alternate_id
127306814	CV1134600	single nucleotide variant	NM_001370658.1(BTD):c.288T>C (p.His96=)	Biotinidase deficiency [RCV001480183]	likely benign	3	15641946	15641946	Human	1	name , alternate_id
150412470	CV1185904	single nucleotide variant	NM_001370658.1(BTD):c.195C>T (p.Leu65=)	Biotinidase deficiency [RCV001559219]	uncertain significance	3	15635634	15635634	Human	1	name , alternate_id
152120208	CV1547227	single nucleotide variant	NM_001370658.1(BTD):c.129T>C (p.Tyr43=)	Biotinidase deficiency [RCV002154157]	likely benign	3	15635568	15635568	Human	1	name , alternate_id
152117336	CV1553678	single nucleotide variant	NM_001370658.1(BTD):c.267G>T (p.Val89=)	Biotinidase deficiency [RCV002081072]	likely benign	3	15641925	15641925	Human	1	name , alternate_id
152160227	CV1650049	single nucleotide variant	NM_001370658.1(BTD):c.114T>C (p.Tyr38=)	Biotinidase deficiency [RCV002159505]\|not provided [RCV004711742]	likely benign	3	15635553	15635553	Human	1	name , alternate_id
156057989	CV1879833	single nucleotide variant	NM_001370658.1(BTD):c.180A>G (p.Gln60=)	Biotinidase deficiency [RCV003053237]	likely benign	3	15635619	15635619	Human	1	name , alternate_id
156418499	CV1922242	single nucleotide variant	NM_001370658.1(BTD):c.279T>C (p.Asp93=)	Biotinidase deficiency [RCV002611696]	likely benign	3	15641937	15641937	Human	1	name , alternate_id
156440610	CV1943664	single nucleotide variant	NM_001370658.1(BTD):c.219T>C (p.Tyr73=)	Biotinidase deficiency [RCV003110646]	likely benign	3	15635658	15635658	Human	1	name , alternate_id
11636402	CV274306	single nucleotide variant	NM_001370658.1(BTD):c.201C>T (p.Asn67=)	Biotinidase deficiency [RCV000633685]\|not provided [RCV000726430]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635640	15635640	Human	1	name , alternate_id
401949633	CV2838767	deletion	NM_001370658.1(BTD):c.52del (p.Val18fs)	Biotinidase deficiency [RCV003474467]	likely pathogenic	3	15635490	15635490	Human	1	name , alternate_id
405105221	CV2860843	single nucleotide variant	NM_001370658.1(BTD):c.177C>G (p.Arg59=)	Biotinidase deficiency [RCV003498068]	likely benign	3	15635616	15635616	Human	1	name , alternate_id
405106410	CV2865064	single nucleotide variant	NM_001370658.1(BTD):c.291A>G (p.Gly97=)	Biotinidase deficiency [RCV003498143]	likely benign	3	15641949	15641949	Human	1	name , alternate_id
405040227	CV3007321	single nucleotide variant	NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)	Biotinidase deficiency [RCV003602517]	uncertain significance	3	15635453	15635453	Human	1	name , alternate_id
405039389	CV3013321	single nucleotide variant	NM_001370658.1(BTD):c.187T>C (p.Leu63=)	Biotinidase deficiency [RCV003602489]	likely benign	3	15635626	15635626	Human	1	name , alternate_id
405011667	CV3024790	single nucleotide variant	NM_001370658.1(BTD):c.141C>T (p.Ser47=)	Biotinidase deficiency [RCV003599887]	likely benign	3	15635580	15635580	Human	1	name , alternate_id
8601593	CV36323	single nucleotide variant	NM_001370658.1(BTD):c.151C>T (p.Leu51=)	Biotinidase deficiency [RCV000021899]	benign	3	15635590	15635590	Human		name , alternate_id
8601595	CV36324	single nucleotide variant	NM_001370658.1(BTD):c.174C>T (p.Ser58=)	Biotinidase deficiency [RCV000021902]	benign	3	15635613	15635613	Human		name , alternate_id
597926676	CV3772710	single nucleotide variant	NM_001370658.1(BTD):c.255A>G (p.Val85=)	Biotinidase deficiency [RCV005115860]	likely benign	3	15641913	15641913	Human	1	name , alternate_id
15131756	CV743519	single nucleotide variant	NM_001370658.1(BTD):c.252T>C (p.Asp84=)	BTD-related disorder [RCV004751793]\|Biotinidase deficiency [RCV000897832]\|not provided [RCV004711385]	likely benign	3	15641910	15641910	Human	2	name , trait , alternate_id
15123887	CV774291	single nucleotide variant	NM_001370658.1(BTD):c.204G>A (p.Gln68=)	Biotinidase deficiency [RCV001480987]	likely benign	3	15635643	15635643	Human	1	name , alternate_id
127273315	CV1070477	single nucleotide variant	NM_001370658.1(BTD):c.345C>T (p.Pro115=)	Biotinidase deficiency [RCV001405989]	likely benign	3	15642003	15642003	Human	1	name , alternate_id
127271224	CV1070478	single nucleotide variant	NM_001370658.1(BTD):c.357G>A (p.Arg119=)	Biotinidase deficiency [RCV001405282]	likely benign	3	15642015	15642015	Human	1	name , alternate_id
127278751	CV1070481	single nucleotide variant	NM_001370658.1(BTD):c.522C>T (p.Phe174=)	Biotinidase deficiency [RCV001408670]	likely benign	3	15644438	15644438	Human	1	name , alternate_id
127246484	CV1070482	single nucleotide variant	NM_001370658.1(BTD):c.600A>G (p.Ala200=)	Biotinidase deficiency [RCV001416749]	likely benign	3	15644516	15644516	Human	1	name , alternate_id
127259915	CV1070483	single nucleotide variant	NM_001370658.1(BTD):c.723C>T (p.Tyr241=)	Biotinidase deficiency [RCV001402079]	likely benign	3	15644639	15644639	Human	1	name , alternate_id
127233812	CV1070484	single nucleotide variant	NM_001370658.1(BTD):c.825C>T (p.Asn275=)	Biotinidase deficiency [RCV001414059]\|not provided [RCV004711605]	likely benign	3	15644741	15644741	Human	1	name , alternate_id
127274879	CV1070485	single nucleotide variant	NM_001370658.1(BTD):c.852A>G (p.Pro284=)	Biotinidase deficiency [RCV001406508]	likely benign	3	15644768	15644768	Human	1	name , alternate_id
127267413	CV1092194	single nucleotide variant	NM_001370658.1(BTD):c.417T>C (p.Ser139=)	Biotinidase deficiency [RCV001429680]	likely benign	3	15644333	15644333	Human	1	name , alternate_id
127284459	CV1092195	single nucleotide variant	NM_001370658.1(BTD):c.435A>T (p.Gly145=)	Biotinidase deficiency [RCV001449474]	likely benign	3	15644351	15644351	Human	1	name , alternate_id
127279203	CV1092196	single nucleotide variant	NM_001370658.1(BTD):c.525C>T (p.Asn175=)	Biotinidase deficiency [RCV001445587]	likely benign	3	15644441	15644441	Human	1	name , alternate_id
127281887	CV1092197	single nucleotide variant	NM_001370658.1(BTD):c.672A>G (p.Thr224=)	Biotinidase deficiency [RCV001447457]	likely benign	3	15644588	15644588	Human	1	name , alternate_id
127232851	CV1092198	single nucleotide variant	NM_001370658.1(BTD):c.894G>A (p.Glu298=)	Biotinidase deficiency [RCV001421468]	likely benign	3	15644810	15644810	Human	1	name , alternate_id
127306706	CV1113707	single nucleotide variant	NM_001370658.1(BTD):c.411C>T (p.Arg137=)	Biotinidase deficiency [RCV001455619]\|not provided [RCV004711643]	likely benign	3	15644327	15644327	Human	1	name , alternate_id
127308351	CV1113708	single nucleotide variant	NM_001370658.1(BTD):c.669C>T (p.Phe223=)	Biotinidase deficiency [RCV001456071]	likely benign	3	15644585	15644585	Human	1	name , alternate_id
127310028	CV1113709	single nucleotide variant	NM_001370658.1(BTD):c.729G>A (p.Val243=)	Biotinidase deficiency [RCV001456523]	likely benign	3	15644645	15644645	Human	1	name , alternate_id
127288053	CV1113710	single nucleotide variant	NM_001370658.1(BTD):c.741G>A (p.Val247=)	Biotinidase deficiency [RCV001450348]	likely benign	3	15644657	15644657	Human	1	name , alternate_id
127327751	CV1134602	single nucleotide variant	NM_001370658.1(BTD):c.429C>T (p.Ile143=)	Biotinidase deficiency [RCV001506788]	likely benign	3	15644345	15644345	Human	1	name , alternate_id
127330917	CV1134603	single nucleotide variant	NM_001370658.1(BTD):c.430A>C (p.Arg144=)	Biotinidase deficiency [RCV001488468]	likely benign	3	15644346	15644346	Human	1	name , alternate_id
127293707	CV1134604	single nucleotide variant	NM_001370658.1(BTD):c.789G>A (p.Glu263=)	Biotinidase deficiency [RCV001496840]	likely benign	3	15644705	15644705	Human	1	name , alternate_id
127290183	CV1134605	single nucleotide variant	NM_001370658.1(BTD):c.978T>G (p.Gly326=)	Biotinidase deficiency [RCV001495901]	likely benign	3	15644894	15644894	Human	1	name , alternate_id
151234100	CV1320741	single nucleotide variant	NM_001370658.1(BTD):c.64G>C (p.Ala22Pro)	not provided [RCV001801075]	uncertain significance	3	15635503	15635503	Human		name
151770378	CV1477226	single nucleotide variant	NM_001370658.1(BTD):c.49G>A (p.Val17Met)	Biotinidase deficiency [RCV001950099]\|Inborn genetic diseases [RCV002561398]	uncertain significance	3	15635488	15635488	Human	2	name , alternate_id
152166295	CV1524316	single nucleotide variant	NM_001370658.1(BTD):c.855T>G (p.Val285=)	Biotinidase deficiency [RCV002141894]	likely benign	3	15644771	15644771	Human	1	name , alternate_id
152106056	CV1560018	single nucleotide variant	NM_001370658.1(BTD):c.534C>T (p.Val178=)	Biotinidase deficiency [RCV002133865]	likely benign	3	15644450	15644450	Human	1	name , alternate_id
152116527	CV1566994	single nucleotide variant	NM_001370658.1(BTD):c.339G>T (p.Pro113=)	Biotinidase deficiency [RCV002097566]	likely benign	3	15641997	15641997	Human	1	name , alternate_id
152057746	CV1567382	single nucleotide variant	NM_001370658.1(BTD):c.762C>T (p.Asn254=)	Biotinidase deficiency [RCV002146433]	likely benign	3	15644678	15644678	Human	1	name , alternate_id
152107852	CV1578024	single nucleotide variant	NM_001370658.1(BTD):c.963A>T (p.Pro321=)	Biotinidase deficiency [RCV002096427]	likely benign	3	15644879	15644879	Human	1	name , alternate_id
152111066	CV1617799	single nucleotide variant	NM_001370658.1(BTD):c.402G>A (p.Val134=)	Biotinidase deficiency [RCV002116548]	likely benign	3	15644318	15644318	Human	1	name , alternate_id
152030231	CV1622079	single nucleotide variant	NM_001370658.1(BTD):c.534C>G (p.Val178=)	Biotinidase deficiency [RCV002186415]	likely benign	3	15644450	15644450	Human	1	name , alternate_id
152116200	CV1645625	single nucleotide variant	NM_001370658.1(BTD):c.687G>A (p.Leu229=)	Biotinidase deficiency [RCV002174961]	likely benign	3	15644603	15644603	Human	1	name , alternate_id
152169176	CV1661087	single nucleotide variant	NM_001370658.1(BTD):c.714C>T (p.Leu238=)	Biotinidase deficiency [RCV002142702]\|not provided [RCV003438969]	likely benign	3	15644630	15644630	Human	1	name , alternate_id
8595533	CV16938	single nucleotide variant	NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	BTD-related disorder [RCV004751191]\|Biotinidase deficiency [RCV000001976]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635479	15635479	Human	2	name , trait , alternate_id
155796254	CV1861742	deletion	NM_001370658.1(BTD):c.270del (p.Pro91fs)	Biotinidase deficiency [RCV002470024]	likely pathogenic	3	15641926	15641926	Human	1	name , alternate_id
156407296	CV1875158	single nucleotide variant	NM_001370658.1(BTD):c.366A>T (p.Pro122=)	Biotinidase deficiency [RCV003070807]	likely benign	3	15642024	15642024	Human	1	name , alternate_id
156410713	CV1882704	single nucleotide variant	NM_001370658.1(BTD):c.387C>T (p.Phe129=)	Biotinidase deficiency [RCV003072181]	likely benign	3	15642045	15642045	Human	1	name , alternate_id
156295543	CV1894193	single nucleotide variant	NM_001370658.1(BTD):c.405C>G (p.Leu135=)	Biotinidase deficiency [RCV003087676]	likely benign	3	15644321	15644321	Human	1	name , alternate_id
156316833	CV1903729	single nucleotide variant	NM_001370658.1(BTD):c.597A>G (p.Ala199=)	Biotinidase deficiency [RCV003088770]	likely benign	3	15644513	15644513	Human	1	name , alternate_id
156355741	CV1917420	single nucleotide variant	NM_001370658.1(BTD):c.798A>G (p.Lys266=)	Biotinidase deficiency [RCV002632319]	likely benign	3	15644714	15644714	Human	1	name , alternate_id
156059650	CV1927692	single nucleotide variant	NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)	Biotinidase deficiency [RCV002659648]	uncertain significance	3	15635472	15635472	Human	1	name , alternate_id
10051421	CV193364	single nucleotide variant	NM_001370658.1(BTD):c.339G>A (p.Pro113=)	Biotinidase deficiency [RCV000714993]\|not provided [RCV000176974]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	15641997	15641997	Human	1	name , alternate_id
156444639	CV1948367	single nucleotide variant	NM_001370658.1(BTD):c.372G>A (p.Leu124=)	Biotinidase deficiency [RCV003115564]	likely benign	3	15642030	15642030	Human	1	name , alternate_id
156392232	CV1965004	single nucleotide variant	NM_001370658.1(BTD):c.630C>T (p.Ile210=)	Biotinidase deficiency [RCV002583980]	likely benign	3	15644546	15644546	Human	1	name , alternate_id
156234270	CV2016079	single nucleotide variant	NM_001370658.1(BTD):c.645C>G (p.Pro215=)	Biotinidase deficiency [RCV002701484]	likely benign	3	15644561	15644561	Human	1	name , alternate_id
156010116	CV2075498	single nucleotide variant	NM_001370658.1(BTD):c.876C>A (p.Gly292=)	Biotinidase deficiency [RCV002843826]	likely benign	3	15644792	15644792	Human	1	name , alternate_id
156386971	CV2122059	single nucleotide variant	NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)	Biotinidase deficiency [RCV002943555]	pathogenic	3	15635487	15635487	Human	1	name , alternate_id
156264392	CV2138861	single nucleotide variant	NM_001370658.1(BTD):c.558T>A (p.Leu186=)	Biotinidase deficiency [RCV002988585]	likely benign	3	15644474	15644474	Human	1	name , alternate_id
155970030	CV2152501	single nucleotide variant	NM_001370658.1(BTD):c.813C>A (p.Ala271=)	Biotinidase deficiency [RCV003015891]	likely benign	3	15644729	15644729	Human	1	name , alternate_id
401949653	CV2838760	deletion	NM_001370658.1(BTD):c.167del (p.Leu56fs)	Biotinidase deficiency [RCV003474456]	likely pathogenic	3	15635606	15635606	Human	1	name , alternate_id
402499385	CV2852480	single nucleotide variant	NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)	Biotinidase deficiency [RCV003486506]	likely pathogenic	3	15635498	15635498	Human	1	name , alternate_id
402480445	CV2860224	single nucleotide variant	NM_001370658.1(BTD):c.846C>T (p.His282=)	Biotinidase deficiency [RCV003498848]	likely benign	3	15644762	15644762	Human	1	name , alternate_id
402480329	CV2861947	single nucleotide variant	NM_001370658.1(BTD):c.897C>T (p.Ser299=)	Biotinidase deficiency [RCV003498205]	likely benign	3	15644813	15644813	Human	1	name , alternate_id
402480454	CV2877591	single nucleotide variant	NM_001370658.1(BTD):c.699T>C (p.Pro233=)	Biotinidase deficiency [RCV003498873]	likely benign	3	15644615	15644615	Human	1	name , alternate_id
402480029	CV2897367	single nucleotide variant	NM_001370658.1(BTD):c.516C>T (p.Tyr172=)	Biotinidase deficiency [RCV003497732]	likely benign	3	15644432	15644432	Human	1	name , alternate_id
402480355	CV2916465	single nucleotide variant	NM_001370658.1(BTD):c.411C>A (p.Arg137=)	Biotinidase deficiency [RCV003498412]	likely benign	3	15644327	15644327	Human	1	name , alternate_id
402524422	CV2983702	single nucleotide variant	NM_001370658.1(BTD):c.642C>T (p.Thr214=)	Biotinidase deficiency [RCV003601839]	likely benign	3	15644558	15644558	Human	1	name , alternate_id
402523380	CV3010008	single nucleotide variant	NM_001370658.1(BTD):c.753C>T (p.Ala251=)	Biotinidase deficiency [RCV003602469]	likely benign	3	15644669	15644669	Human	1	name , alternate_id
402523406	CV3010503	single nucleotide variant	NM_001370658.1(BTD):c.711C>T (p.Val237=)	Biotinidase deficiency [RCV003602503]	likely benign	3	15644627	15644627	Human	1	name , alternate_id
402523394	CV3013482	single nucleotide variant	NM_001370658.1(BTD):c.624T>C (p.Asp208=)	Biotinidase deficiency [RCV003602494]	likely benign	3	15644540	15644540	Human	1	name , alternate_id
402523142	CV3044216	single nucleotide variant	NM_001370658.1(BTD):c.564C>T (p.Asp188=)	Biotinidase deficiency [RCV003600877]	likely benign	3	15644480	15644480	Human	1	name , alternate_id
402523166	CV3047833	single nucleotide variant	NM_001370658.1(BTD):c.858G>T (p.Leu286=)	Biotinidase deficiency [RCV003600901]	likely benign	3	15644774	15644774	Human	1	name , alternate_id
402523044	CV3053922	single nucleotide variant	NM_001370658.1(BTD):c.471G>A (p.Glu157=)	Biotinidase deficiency [RCV003600356]	likely benign	3	15644387	15644387	Human	1	name , alternate_id
402523195	CV3059897	single nucleotide variant	NM_001370658.1(BTD):c.975T>C (p.Ile325=)	Biotinidase deficiency [RCV003601038]	likely benign	3	15644891	15644891	Human	1	name , alternate_id
405107156	CV3136240	single nucleotide variant	NM_001370658.1(BTD):c.555C>G (p.Thr185=)	Biotinidase deficiency [RCV003835586]	likely benign	3	15644471	15644471	Human	1	name , alternate_id
405205273	CV3144213	single nucleotide variant	NM_001370658.1(BTD):c.867A>G (p.Thr289=)	Biotinidase deficiency [RCV003845003]	likely benign	3	15644783	15644783	Human	1	name , alternate_id
404999135	CV3173058	single nucleotide variant	NM_001370658.1(BTD):c.870A>T (p.Gly290=)	Biotinidase deficiency [RCV003882341]	likely benign	3	15644786	15644786	Human	1	name , alternate_id
405255249	CV3176084	single nucleotide variant	NM_001370658.1(BTD):c.456T>C (p.Asn152=)	Biotinidase deficiency [RCV003872168]	likely benign	3	15644372	15644372	Human	1	name , alternate_id
12740415	CV357295	duplication	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	Biotinidase deficiency [RCV000411926]	pathogenic\|likely pathogenic	3	15635485	15635486	Human	1	name , alternate_id
8601586	CV36313	single nucleotide variant	NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	BTD-related disorder [RCV003974849]\|Biotinidase deficiency [RCV000021888]\|not provided [RCV000724323]\|not specified [RCV000185799]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635512	15635512	Human	2	name , trait , alternate_id
8601587	CV36315	single nucleotide variant	NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)	Biotinidase deficiency [RCV003474466]	pathogenic	3	15635515	15635515	Human	1	name , alternate_id
8601616	CV36344	single nucleotide variant	NM_001370658.1(BTD):c.384C>A (p.Arg128=)	Biotinidase deficiency [RCV000021925]	benign	3	15642042	15642042	Human		name , alternate_id
8601619	CV36347	single nucleotide variant	NM_001370658.1(BTD):c.399G>A (p.Glu133=)	Biotinidase deficiency [RCV000021928]\|not provided [RCV000425369]	pathogenic\|likely pathogenic	3	15642057	15642057	Human	1	name , alternate_id
8601641	CV36369	single nucleotide variant	NM_001370658.1(BTD):c.585C>T (p.Leu195=)	Biotinidase deficiency [RCV000021954]\|not provided [RCV000755881]\|not specified [RCV000078078]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	15644501	15644501	Human	1	name , alternate_id
597966917	CV3751698	single nucleotide variant	NM_001370658.1(BTD):c.79G>C (p.Glu27Gln)	Biotinidase deficiency [RCV005083068]	uncertain significance	3	15635518	15635518	Human	1	name , alternate_id
597854092	CV3840443	single nucleotide variant	NM_001370658.1(BTD):c.768C>G (p.Leu256=)	Biotinidase deficiency [RCV005184913]	likely benign	3	15644684	15644684	Human	1	name , alternate_id
597860244	CV3850412	single nucleotide variant	NM_001370658.1(BTD):c.325T>C (p.Leu109=)	Biotinidase deficiency [RCV005195745]	likely benign	3	15641983	15641983	Human	1	name , alternate_id
617150253	CV4016937	duplication	NM_001370658.1(BTD):c.270dup (p.Pro91fs)	Biotinidase deficiency [RCV005416060]	likely pathogenic	3	15641925	15641926	Human	1	name , alternate_id
12894345	CV406134	deletion	NM_001370658.1(BTD):c.206del (p.Asn69fs)	not provided [RCV000482443]	pathogenic	3	15635644	15635644	Human		name
13436544	CV432992	deletion	NM_001370658.1(BTD):c.248del (p.Lys83fs)	not specified [RCV000507351]	likely pathogenic	3	15635684	15635684	Human		name
8601713	CV46853	single nucleotide variant	NM_001370658.1(BTD):c.68A>G (p.His23Arg)	Biotinidase deficiency [RCV000022030]\|Inborn genetic diseases [RCV002513289]\|Intellectual disability [RCV001251701]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635507	15635507	Human	4	name , alternate_id
13828220	CV578668	duplication	NM_001370658.1(BTD):c.266dup (p.Phe90fs)	Biotinidase deficiency [RCV000714992]	pathogenic	3	15641923	15641924	Human		name , alternate_id
15139931	CV694980	single nucleotide variant	NM_001370658.1(BTD):c.645C>A (p.Pro215=)	Biotinidase deficiency [RCV000877401]	likely benign	3	15644561	15644561	Human	1	name , alternate_id
15115806	CV743520	single nucleotide variant	NM_001370658.1(BTD):c.603C>T (p.Phe201=)	BTD-related disorder [RCV003975666]\|Biotinidase deficiency [RCV000895094]\|not provided [RCV004808948]	likely benign	3	15644519	15644519	Human	2	name , trait , alternate_id
15126826	CV758689	single nucleotide variant	NM_001370658.1(BTD):c.972C>T (p.Leu324=)	Biotinidase deficiency [RCV000919396]	likely benign	3	15644888	15644888	Human	1	name , alternate_id
15177438	CV774286	single nucleotide variant	NM_001370658.1(BTD):c.843C>A (p.Val281=)	Biotinidase deficiency [RCV001428748]	likely benign	3	15644759	15644759	Human	1	name , alternate_id
15184928	CV786947	single nucleotide variant	NM_001370658.1(BTD):c.768C>A (p.Leu256=)	Biotinidase deficiency [RCV005092932]	likely benign	3	15644684	15644684	Human	1	name , alternate_id
21068504	CV790346	single nucleotide variant	NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)	Biotinidase deficiency [RCV000987126]\|not provided [RCV000998006]	uncertain significance	3	15635477	15635477	Human	1	name , alternate_id
21071155	CV790348	deletion	NM_001370658.1(BTD):c.203del (p.Gln68fs)	Biotinidase deficiency [RCV000987129]	pathogenic	3	15635642	15635642	Human	1	name , alternate_id
21068505	CV795357	single nucleotide variant	NM_001370658.1(BTD):c.40G>C (p.Gly14Arg)	not provided [RCV000998007]	uncertain significance	3	15635479	15635479	Human		name
38474661	CV939713	deletion	NM_001370658.1(BTD):c.282del (p.Ile95fs)	Biotinidase deficiency [RCV001203912]	pathogenic	3	15641940	15641940	Human	1	name , alternate_id
127244224	CV1070486	single nucleotide variant	NM_001370658.1(BTD):c.1170A>C (p.Gly390=)	Biotinidase deficiency [RCV001393680]	likely benign	3	15645086	15645086	Human	1	name , alternate_id
127232338	CV1070487	single nucleotide variant	NM_001370658.1(BTD):c.1236C>T (p.Thr412=)	Biotinidase deficiency [RCV001395644]	likely benign	3	15645152	15645152	Human	1	name , alternate_id
127256658	CV1070488	single nucleotide variant	NM_001370658.1(BTD):c.1251G>C (p.Leu417=)	Biotinidase deficiency [RCV001419093]	likely benign	3	15645167	15645167	Human	1	name , alternate_id
127276326	CV1070489	single nucleotide variant	NM_001370658.1(BTD):c.1419C>G (p.Ser473=)	Biotinidase deficiency [RCV001407126]	likely benign	3	15645335	15645335	Human	1	name , alternate_id
127254755	CV1070490	single nucleotide variant	NM_001370658.1(BTD):c.1446A>G (p.Ser482=)	Biotinidase deficiency [RCV001400862]	likely benign	3	15645362	15645362	Human	1	name , alternate_id
127254812	CV1092199	single nucleotide variant	NM_001370658.1(BTD):c.1086G>A (p.Glu362=)	Biotinidase deficiency [RCV001426380]	likely benign	3	15645002	15645002	Human	1	name , alternate_id
127266190	CV1092200	single nucleotide variant	NM_001370658.1(BTD):c.1248G>A (p.Glu416=)	Biotinidase deficiency [RCV001429335]	likely benign	3	15645164	15645164	Human	1	name , alternate_id
127275003	CV1092201	single nucleotide variant	NM_001370658.1(BTD):c.1438C>T (p.Leu480=)	Biotinidase deficiency [RCV001443130]	likely benign	3	15645354	15645354	Human	1	name , alternate_id
127318797	CV1113711	single nucleotide variant	NM_001370658.1(BTD):c.1041C>A (p.Gly347=)	Biotinidase deficiency [RCV001466363]	likely benign	3	15644957	15644957	Human	1	name , alternate_id
127319788	CV1113712	single nucleotide variant	NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)	Biotinidase deficiency [RCV001466670]	likely benign	3	15645098	15645098	Human	1	name , alternate_id
127335649	CV1113713	single nucleotide variant	NM_001370658.1(BTD):c.1203C>T (p.Gly401=)	Biotinidase deficiency [RCV001474414]	likely benign	3	15645119	15645119	Human	1	name , alternate_id
127338128	CV1134606	single nucleotide variant	NM_001370658.1(BTD):c.1026A>G (p.Leu342=)	Biotinidase deficiency [RCV001493596]	likely benign	3	15644942	15644942	Human	1	name , alternate_id
127331141	CV1134607	single nucleotide variant	NM_001370658.1(BTD):c.1158C>A (p.Val386=)	Biotinidase deficiency [RCV001488622]	likely benign	3	15645074	15645074	Human	1	name , alternate_id
150545509	CV1315637	deletion	NM_001370658.1(BTD):c.500del (p.Pro167fs)	Biotinidase deficiency [RCV001784056]	pathogenic\|likely pathogenic	3	15644414	15644414	Human	1	name , alternate_id
151794008	CV1390389	single nucleotide variant	NM_001370658.1(BTD):c.286C>T (p.His96Tyr)	Biotinidase deficiency [RCV001952312]	uncertain significance	3	15641944	15641944	Human	1	name , alternate_id
151713493	CV1428811	deletion	NM_001370658.1(BTD):c.950del (p.Val317fs)	Biotinidase deficiency [RCV002002455]	pathogenic	3	15644866	15644866	Human	1	name , alternate_id
151766568	CV1485970	single nucleotide variant	NM_001370658.1(BTD):c.1539G>A (p.Ala513=)	Biotinidase deficiency [RCV002044833]	likely benign\|uncertain significance	3	15645455	15645455	Human	1	name , alternate_id
152090857	CV1525701	single nucleotide variant	NM_001370658.1(BTD):c.1092C>A (p.Thr364=)	Biotinidase deficiency [RCV002150569]	likely benign	3	15645008	15645008	Human	1	name , alternate_id
152082444	CV1526193	single nucleotide variant	NM_001370658.1(BTD):c.1200T>C (p.Asn400=)	Biotinidase deficiency [RCV002170715]	likely benign	3	15645116	15645116	Human	1	name , alternate_id
152086522	CV1531744	single nucleotide variant	NM_001370658.1(BTD):c.1068G>A (p.Gln356=)	Biotinidase deficiency [RCV002077054]	likely benign	3	15644984	15644984	Human	1	name , alternate_id
152053013	CV1531923	single nucleotide variant	NM_001370658.1(BTD):c.1396C>T (p.Leu466=)	Biotinidase deficiency [RCV002072615]	likely benign	3	15645312	15645312	Human	1	name , alternate_id
152094412	CV1533736	single nucleotide variant	NM_001370658.1(BTD):c.1527G>A (p.Gly509=)	Biotinidase deficiency [RCV002094642]	likely benign	3	15645443	15645443	Human	1	name , alternate_id
152169830	CV1538732	single nucleotide variant	NM_001370658.1(BTD):c.1110T>C (p.Ala370=)	Biotinidase deficiency [RCV002182939]	likely benign	3	15645026	15645026	Human	1	name , alternate_id
152157392	CV1541765	single nucleotide variant	NM_001370658.1(BTD):c.1104G>T (p.Val368=)	Biotinidase deficiency [RCV002103136]	likely benign	3	15645020	15645020	Human	1	name , alternate_id
152166577	CV1566466	single nucleotide variant	NM_001370658.1(BTD):c.1470C>T (p.Asp490=)	Biotinidase deficiency [RCV002160676]	likely benign	3	15645386	15645386	Human	1	name , alternate_id
152090236	CV1581762	single nucleotide variant	NM_001370658.1(BTD):c.1515G>A (p.Arg505=)	Biotinidase deficiency [RCV002077607]	likely benign	3	15645431	15645431	Human	1	name , alternate_id
152165849	CV1612730	single nucleotide variant	NM_001370658.1(BTD):c.1143C>T (p.Asp381=)	Biotinidase deficiency [RCV002160529]	likely benign	3	15645059	15645059	Human	1	name , alternate_id
152159296	CV1621122	single nucleotide variant	NM_001370658.1(BTD):c.1377G>A (p.Thr459=)	Biotinidase deficiency [RCV002203156]	likely benign	3	15645293	15645293	Human	1	name , alternate_id
152108072	CV1643435	single nucleotide variant	NM_001370658.1(BTD):c.1311G>A (p.Val437=)	Biotinidase deficiency [RCV002096461]\|not provided [RCV002512174]	likely benign	3	15645227	15645227	Human	1	name , alternate_id
152081340	CV1645055	single nucleotide variant	NM_001370658.1(BTD):c.1035G>A (p.Leu345=)	Biotinidase deficiency [RCV002149350]	likely benign	3	15644951	15644951	Human	1	name , alternate_id
152099945	CV1655229	single nucleotide variant	NM_001370658.1(BTD):c.1236C>A (p.Thr412=)	Biotinidase deficiency [RCV002115195]	likely benign	3	15645152	15645152	Human	1	name , alternate_id
9586970	CV165804	single nucleotide variant	NM_001370658.1(BTD):c.197T>G (p.Met66Arg)	Biotinidase deficiency [RCV000144056]\|not specified [RCV003323415]	pathogenic\|likely pathogenic\|uncertain significance	3	15635636	15635636	Human	1	name , alternate_id
152114730	CV1659682	single nucleotide variant	NM_001370658.1(BTD):c.1047G>A (p.Pro349=)	Biotinidase deficiency [RCV002080736]\|not provided [RCV002512172]	likely benign	3	15644963	15644963	Human	1	name , alternate_id
152079795	CV1663491	single nucleotide variant	NM_001370658.1(BTD):c.1275G>T (p.Gly425=)	Biotinidase deficiency [RCV002149156]	likely benign	3	15645191	15645191	Human	1	name , alternate_id
8595538	CV16944	single nucleotide variant	NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	Biotinidase deficiency [RCV000001982]\|not provided [RCV001815158]	pathogenic\|likely pathogenic	3	15635614	15635614	Human	1	name , alternate_id
155737097	CV1784240	single nucleotide variant	NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)	Biotinidase deficiency [RCV002310397]	likely pathogenic	3	15635659	15635659	Human	1	name , alternate_id
156331030	CV1877489	single nucleotide variant	NM_001370658.1(BTD):c.1314T>C (p.Cys438=)	Biotinidase deficiency [RCV003063699]	likely benign	3	15645230	15645230	Human	1	name , alternate_id
155963320	CV1931743	single nucleotide variant	NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)	Biotinidase deficiency [RCV002616839]	likely benign	3	15645338	15645338	Human	1	name , alternate_id
155938032	CV1935185	duplication	NM_001370658.1(BTD):c.920dup (p.Asn307fs)	Biotinidase deficiency [RCV002510473]	likely pathogenic	3	15644832	15644833	Human	1	name , alternate_id
155942702	CV2039292	single nucleotide variant	NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)	Biotinidase deficiency [RCV002775298]	uncertain significance	3	15641909	15641909	Human	1	name , alternate_id
156377223	CV2050556	duplication	NM_001370658.1(BTD):c.901dup (p.Trp301fs)	Biotinidase deficiency [RCV002814793]	pathogenic	3	15644813	15644814	Human	1	name , alternate_id
156246801	CV2053362	single nucleotide variant	NM_001370658.1(BTD):c.1008A>T (p.Pro336=)	Biotinidase deficiency [RCV002791551]	likely benign	3	15644924	15644924	Human	1	name , alternate_id
155938050	CV2071629	single nucleotide variant	NM_001370658.1(BTD):c.1038A>C (p.Ser346=)	Biotinidase deficiency [RCV002839221]	likely benign	3	15644954	15644954	Human	1	name , alternate_id
156101167	CV2099278	single nucleotide variant	NM_001370658.1(BTD):c.1551G>T (p.Gly517=)	Biotinidase deficiency [RCV002913409]	likely benign	3	15645467	15645467	Human	1	name , alternate_id
155944039	CV2111331	single nucleotide variant	NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)	Biotinidase deficiency [RCV002904660]	uncertain significance	3	15635552	15635552	Human	1	name , alternate_id
155935211	CV2114090	deletion	NM_001370658.1(BTD):c.686del (p.Leu229fs)	Biotinidase deficiency [RCV002904082]	pathogenic	3	15644601	15644601	Human	1	name , alternate_id
156131202	CV2125148	single nucleotide variant	NM_001370658.1(BTD):c.1350C>T (p.Thr450=)	Biotinidase deficiency [RCV002953885]	likely benign	3	15645266	15645266	Human	1	name , alternate_id
155972719	CV2148742	single nucleotide variant	NM_001370658.1(BTD):c.1380G>A (p.Gly460=)	Biotinidase deficiency [RCV003016012]	likely benign	3	15645296	15645296	Human	1	name , alternate_id
329847422	CV2524258	single nucleotide variant	NM_001370658.1(BTD):c.163G>T (p.Ala55Ser)	not provided [RCV003227150]	uncertain significance	3	15635602	15635602	Human		name
11635462	CV267157	single nucleotide variant	NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	Biotinidase deficiency [RCV000352964]\|not specified [RCV000371736]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644957	15644957	Human	1	name , alternate_id
11642151	CV270601	single nucleotide variant	NM_001370658.1(BTD):c.1002G>A (p.Thr334=)	BTD-related disorder [RCV004751433]\|Biotinidase deficiency [RCV000558183]\|not provided [RCV004710694]\|not specified [RCV000369904]	benign\|likely benign	3	15644918	15644918	Human	2	name , trait , alternate_id
401763594	CV2714609	single nucleotide variant	NM_001370658.1(BTD):c.161T>C (p.Leu54Pro)	Inborn genetic diseases [RCV003258260]	uncertain significance	3	15635600	15635600	Human	1	name
401926258	CV2827190	single nucleotide variant	NM_001370658.1(BTD):c.103G>A (p.Ala35Thr)	not provided [RCV003437717]	uncertain significance	3	15635542	15635542	Human		name
401904866	CV2827194	single nucleotide variant	NM_001370752.1(BTD):c.1029C>T (p.Val343=)	not provided [RCV003433490]	likely benign	3	15721783	15721783	Human		name
401949657	CV2838758	deletion	NM_001370658.1(BTD):c.799del (p.Ala267fs)	Biotinidase deficiency [RCV003474453]	likely pathogenic	3	15644715	15644715	Human	1	name , alternate_id
402475454	CV2848914	deletion	NM_001370658.1(BTD):c.430del (p.Arg144fs)	Biotinidase deficiency [RCV003485996]	pathogenic\|likely pathogenic	3	15644346	15644346	Human	1	name , alternate_id
402480271	CV2853878	single nucleotide variant	NM_001370658.1(BTD):c.1530G>A (p.Leu510=)	Biotinidase deficiency [RCV003498037]	likely benign	3	15645446	15645446	Human	1	name , alternate_id
402480428	CV2866461	single nucleotide variant	NM_001370658.1(BTD):c.1047G>T (p.Pro349=)	Biotinidase deficiency [RCV003498828]	likely benign	3	15644963	15644963	Human	1	name , alternate_id
405114676	CV2894485	single nucleotide variant	NM_001370658.1(BTD):c.229G>A (p.Val77Met)	Biotinidase deficiency [RCV003499921]	likely pathogenic	3	15635668	15635668	Human	1	name , alternate_id
402479940	CV2895384	single nucleotide variant	NM_001370658.1(BTD):c.1164C>G (p.Val388=)	Biotinidase deficiency [RCV003497399]	likely benign	3	15645080	15645080	Human	1	name , alternate_id
11635768	CV293088	single nucleotide variant	NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)	Biotinidase deficiency [RCV000394008]\|Inborn genetic diseases [RCV002520100]	uncertain significance	3	15635575	15635575	Human	2	name , alternate_id
11635130	CV293089	single nucleotide variant	NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)	Biotinidase deficiency [RCV000311192]	uncertain significance	3	15635579	15635579	Human	1	name , alternate_id
11634670	CV293118	single nucleotide variant	NM_001370658.1(BTD):c.1425C>A (p.Ile475=)	Biotinidase deficiency [RCV000270145]	conflicting interpretations of pathogenicity\|uncertain significance	3	15645341	15645341	Human	1	name , alternate_id
402480524	CV2932226	single nucleotide variant	NM_001370658.1(BTD):c.1197C>T (p.Ser399=)	Biotinidase deficiency [RCV003499288]	likely benign	3	15645113	15645113	Human	1	name , alternate_id
402523251	CV2956407	single nucleotide variant	NM_001370658.1(BTD):c.1434G>A (p.Leu478=)	Biotinidase deficiency [RCV003601380]	likely benign	3	15645350	15645350	Human	1	name , alternate_id
402523238	CV2962554	single nucleotide variant	NM_001370658.1(BTD):c.1404C>A (p.Gly468=)	Biotinidase deficiency [RCV003601365]	likely benign	3	15645320	15645320	Human	1	name , alternate_id
402523266	CV2971619	single nucleotide variant	NM_001370658.1(BTD):c.1077C>T (p.His359=)	Biotinidase deficiency [RCV003601494]	likely benign	3	15644993	15644993	Human	1	name , alternate_id
402523326	CV3003647	single nucleotide variant	NM_001370658.1(BTD):c.1368A>G (p.Thr456=)	Biotinidase deficiency [RCV003602272]	likely benign	3	15645284	15645284	Human	1	name , alternate_id
402523364	CV3009933	single nucleotide variant	NM_001370658.1(BTD):c.1260G>A (p.Leu420=)	Biotinidase deficiency [RCV003602467]	likely benign	3	15645176	15645176	Human	1	name , alternate_id
402523351	CV3015665	single nucleotide variant	NM_001370658.1(BTD):c.1341C>A (p.Gly447=)	Biotinidase deficiency [RCV003602398]	likely benign	3	15645257	15645257	Human	1	name , alternate_id
402523032	CV3041604	single nucleotide variant	NM_001370658.1(BTD):c.1257C>A (p.Ala419=)	Biotinidase deficiency [RCV003600208]	likely benign	3	15645173	15645173	Human	1	name , alternate_id
402523181	CV3054768	single nucleotide variant	NM_001370658.1(BTD):c.1257C>T (p.Ala419=)	Biotinidase deficiency [RCV003600911]	likely benign	3	15645173	15645173	Human	1	name , alternate_id
405033655	CV3077458	single nucleotide variant	NM_001370658.1(BTD):c.125T>C (p.Val42Ala)	Biotinidase deficiency [RCV003601990]	likely pathogenic	3	15635564	15635564	Human	1	name , alternate_id
402523298	CV3077664	single nucleotide variant	NM_001370658.1(BTD):c.1191C>T (p.Val397=)	Biotinidase deficiency [RCV003601997]	likely benign	3	15645107	15645107	Human	1	name , alternate_id
405202455	CV3129318	single nucleotide variant	NM_001370658.1(BTD):c.1164C>T (p.Val388=)	Biotinidase deficiency [RCV003822171]	likely benign	3	15645080	15645080	Human	1	name , alternate_id
405182127	CV3147580	single nucleotide variant	NM_001370658.1(BTD):c.1479C>G (p.Gly493=)	Biotinidase deficiency [RCV003842482]	likely benign	3	15645395	15645395	Human	1	name , alternate_id
405181825	CV3147605	single nucleotide variant	NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)	Biotinidase deficiency [RCV003842507]	likely benign	3	15645131	15645131	Human	1	name , alternate_id
405247862	CV3159018	single nucleotide variant	NM_001370658.1(BTD):c.1500C>T (p.Phe500=)	Biotinidase deficiency [RCV003869163]	likely benign	3	15645416	15645416	Human	1	name , alternate_id
405151498	CV3162945	single nucleotide variant	NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)	Biotinidase deficiency [RCV003856388]	likely benign	3	15645056	15645056	Human	1	name , alternate_id
402514462	CV3178810	single nucleotide variant	NM_001370658.1(BTD):c.253G>A (p.Val85Ile)	Biotinidase deficiency [RCV003879243]	likely pathogenic	3	15641911	15641911	Human	1	name , alternate_id
405854955	CV3393412	single nucleotide variant	NM_001370658.1(BTD):c.1128T>G (p.Ser376=)	not provided [RCV004546142]	likely benign	3	15645044	15645044	Human		name
405870152	CV3399963	duplication	NM_001370658.1(BTD):c.683dup (p.Leu229fs)	Biotinidase deficiency [RCV004575466]	likely pathogenic	3	15644598	15644599	Human	1	name , alternate_id
405870149	CV3399965	deletion	NM_001370658.1(BTD):c.887del (p.Pro296fs)	Biotinidase deficiency [RCV004575468]	likely pathogenic	3	15644800	15644800	Human	1	name , alternate_id
407476986	CV3417758	single nucleotide variant	NM_001370658.1(BTD):c.181G>A (p.Glu61Lys)	Inborn genetic diseases [RCV004604107]	uncertain significance	3	15635620	15635620	Human	1	name
13828217	CV36317	single nucleotide variant	NM_001370658.1(BTD):c.100G>T (p.Glu34Ter)	Biotinidase deficiency [RCV000714989]	pathogenic	3	15635539	15635539	Human		name , alternate_id
8601588	CV36318	single nucleotide variant	NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)	Biotinidase deficiency [RCV003474461]	pathogenic	3	15635550	15635550	Human	1	name , alternate_id
8601589	CV36319	single nucleotide variant	NM_001370658.1(BTD):c.124G>T (p.Val42Leu)	Biotinidase deficiency [RCV000021894]	pathogenic	3	15635563	15635563	Human		name , alternate_id
8601591	CV36320	single nucleotide variant	NM_001370658.1(BTD):c.130G>A (p.Glu44Lys)	Biotinidase deficiency [RCV000021896]	pathogenic	3	15635569	15635569	Human		name , alternate_id
8601592	CV36322	single nucleotide variant	NM_001370658.1(BTD):c.134A>G (p.His45Arg)	Biotinidase deficiency [RCV005198251]	pathogenic	3	15635573	15635573	Human	1	name , alternate_id
8601599	CV36327	single nucleotide variant	NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	Biotinidase deficiency [RCV000021907]\|not provided [RCV001171830]\|not specified [RCV001800312]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635624	15635624	Human	1	name , alternate_id
8601601	CV36329	single nucleotide variant	NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)	Biotinidase deficiency [RCV000021909]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635627	15635627	Human	1	name , alternate_id
8601602	CV36330	single nucleotide variant	NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)	Biotinidase deficiency [RCV003474470]	pathogenic	3	15635641	15635641	Human	1	name , alternate_id
8601603	CV36331	single nucleotide variant	NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	Biotinidase deficiency [RCV000021911]\|not provided [RCV004584595]	pathogenic\|likely pathogenic	3	15635657	15635657	Human	1	name , alternate_id
13828218	CV36332	single nucleotide variant	NM_001370658.1(BTD):c.223C>T (p.Gln75Ter)	not provided [RCV004719502]	pathogenic	3	15635662	15635662	Human		name
8601604	CV36333	single nucleotide variant	NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)	Biotinidase deficiency [RCV002651644]	pathogenic\|likely pathogenic	3	15635677	15635677	Human	1	name , alternate_id
8601605	CV36334	single nucleotide variant	NM_001370658.1(BTD):c.250G>T (p.Asp84Tyr)	Biotinidase deficiency [RCV000021914]	pathogenic	3	15641908	15641908	Human		name , alternate_id
8601607	CV36335	single nucleotide variant	NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	Biotinidase deficiency [RCV000021916]\|not provided [RCV000759006]	pathogenic\|likely pathogenic	3	15641932	15641932	Human	1	name , alternate_id
8601608	CV36336	single nucleotide variant	NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)	Biotinidase deficiency [RCV003499922]	pathogenic\|likely pathogenic	3	15641932	15641932	Human	1	name , alternate_id
8601609	CV36337	single nucleotide variant	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	Biotinidase deficiency [RCV000021918]\|Inborn genetic diseases [RCV002513162]\|not provided [RCV000759007]	pathogenic\|likely pathogenic	3	15641939	15641939	Human	2	name , alternate_id
8601610	CV36338	single nucleotide variant	NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)	BTD-related disorder [RCV003982846]\|Biotinidase deficiency [RCV000021919]\|not specified [RCV002307368]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15641954	15641954	Human	2	name , trait , alternate_id
8601660	CV36389	deletion	NM_001370658.1(BTD):c.873del (p.Ser291fs)	Biotinidase deficiency [RCV000021974]\|not provided [RCV000078082]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	15644789	15644789	Human	1	name , alternate_id
8601666	CV36393	deletion	NM_001370658.1(BTD):c.992del (p.Thr331fs)	Biotinidase deficiency [RCV000021980]\|not provided [RCV000269677]	pathogenic	3	15644908	15644908	Human	1	name , alternate_id
8601696	CV36422	single nucleotide variant	NM_001370658.1(BTD):c.1353T>C (p.Cys451=)	Biotinidase deficiency [RCV000022013]\|not provided [RCV001705597]\|not specified [RCV000078067]	benign	3	15645269	15645269	Human	1	name , alternate_id
12833424	CV367247	single nucleotide variant	NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	BTD-related disorder [RCV003912709]\|Biotinidase deficiency [RCV000876680]\|Inborn genetic diseases [RCV002521735]\|not provided [RCV000755884]	benign\|likely benign\|uncertain significance	3	15635641	15635641	Human	3	name , trait , alternate_id
597848133	CV3792914	single nucleotide variant	NM_001370658.1(BTD):c.204G>C (p.Gln68His)	Biotinidase deficiency [RCV005145050]\|Inborn genetic diseases [RCV005311187]	uncertain significance	3	15635643	15635643	Human	2	name , alternate_id
597851728	CV3818159	single nucleotide variant	NM_001370658.1(BTD):c.1485G>A (p.Glu495=)	Biotinidase deficiency [RCV005160420]	likely benign	3	15645401	15645401	Human	1	name , alternate_id
12854360	CV384513	single nucleotide variant	NM_001370658.1(BTD):c.164C>A (p.Ala55Asp)	Global developmental delay [RCV000449612]	uncertain significance	3	15635603	15635603	Human	2	name
597855234	CV3855189	single nucleotide variant	NM_001370658.1(BTD):c.1311G>C (p.Val437=)	Biotinidase deficiency [RCV005197354]	likely benign	3	15645227	15645227	Human	1	name , alternate_id
598125551	CV3881712	single nucleotide variant	NM_001370658.1(BTD):c.190G>A (p.Glu64Lys)	Biotinidase deficiency [RCV005232600]	pathogenic	3	15635629	15635629	Human	1	name , alternate_id
617150170	CV4017160	single nucleotide variant	NM_001370658.1(BTD):c.232A>T (p.Met78Leu)	not provided [RCV005416817]	uncertain significance	3	15635671	15635671	Human		name
13437019	CV432543	single nucleotide variant	NM_001370658.1(BTD):c.196A>G (p.Met66Val)	not provided [RCV004591448]\|not specified [RCV000508154]	uncertain significance	3	15635635	15635635	Human		name
13436532	CV432544	single nucleotide variant	NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)	Biotinidase deficiency [RCV001348854]\|not specified [RCV000507334]	uncertain significance	3	15641929	15641929	Human	1	name , alternate_id
8601606	CV46844	single nucleotide variant	NM_001370658.1(BTD):c.266T>G (p.Val89Gly)	Biotinidase deficiency [RCV000021915]	pathogenic	3	15641924	15641924	Human		name , alternate_id
8601590	CV46846	single nucleotide variant	NM_001370658.1(BTD):c.124G>A (p.Val42Met)	Biotinidase deficiency [RCV000021895]	pathogenic\|likely pathogenic	3	15635563	15635563	Human	1	name , alternate_id
8601597	CV46851	single nucleotide variant	NM_001370658.1(BTD):c.176G>A (p.Arg59His)	Biotinidase deficiency [RCV000021905]\|not provided [RCV003125847]\|not specified [RCV003993755]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635615	15635615	Human	1	name , alternate_id
8601598	CV46852	single nucleotide variant	NM_001370658.1(BTD):c.185C>A (p.Ala62Asp)	Biotinidase deficiency [RCV000021906]	pathogenic	3	15635624	15635624	Human		name , alternate_id
8601594	CV47043	single nucleotide variant	NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)	Biotinidase deficiency [RCV000021900]\|not specified [RCV000427971]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	3	15635591	15635591	Human	1	name , alternate_id
8604065	CV47163	single nucleotide variant	NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)	Biotinidase deficiency [RCV000032017]\|not specified [RCV000506513]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635571	15635571	Human	1	name , alternate_id
8654859	CV47167	duplication	NM_000060.4(BTD):c.407dup (p.Val137Glyfs)	Biotinidase deficiency [RCV000032021]	pathogenic	3	15642004	15642005	Human		name , alternate_id
8604072	CV47197	single nucleotide variant	NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	Biotinidase deficiency [RCV000032025]\|not provided [RCV000429839]\|not specified [RCV000078063]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	15645140	15645140	Human	1	name , alternate_id
13518316	CV491712	single nucleotide variant	NM_001370658.1(BTD):c.1536G>A (p.Thr512=)	BTD-related disorder [RCV003962699]\|Biotinidase deficiency [RCV000801863]\|not provided [RCV000597261]	likely benign\|uncertain significance	3	15645452	15645452	Human	2	name , trait , alternate_id
13616679	CV518944	single nucleotide variant	NM_001370658.1(BTD):c.142A>G (p.Ile48Val)	BTD-related disorder [RCV003928057]\|Biotinidase deficiency [RCV000633686]\|not provided [RCV003478355]	benign\|likely benign	3	15635581	15635581	Human	2	name , trait , alternate_id
13616675	CV518948	deletion	NM_001370658.1(BTD):c.527del (p.Thr176fs)	Biotinidase deficiency [RCV000633683]	pathogenic\|likely pathogenic	3	15644443	15644443	Human	1	name , alternate_id
13616677	CV519125	single nucleotide variant	NM_001370658.1(BTD):c.1456C>T (p.Leu486=)	Biotinidase deficiency [RCV000633684]\|not specified [RCV002233958]	likely benign	3	15645372	15645372	Human	1	name , alternate_id
13788059	CV542857	single nucleotide variant	NM_001370658.1(BTD):c.239C>T (p.Ala80Val)	Biotinidase deficiency [RCV000673777]\|not specified [RCV003117479]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635678	15635678	Human	1	name , alternate_id
13783071	CV542858	single nucleotide variant	NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)	Biotinidase deficiency [RCV000669656]	pathogenic\|likely pathogenic	3	15641914	15641914	Human	1	name , alternate_id
13786310	CV543034	single nucleotide variant	NM_001370658.1(BTD):c.261T>G (p.Ile87Met)	Biotinidase deficiency [RCV000672725]	conflicting interpretations of pathogenicity\|uncertain significance	3	15641919	15641919	Human	1	name , alternate_id
13828028	CV578669	deletion	NM_001370658.1(BTD):c.333del (p.Phe111fs)	Biotinidase deficiency [RCV000021922]\|not provided [RCV004719972]	pathogenic\|likely pathogenic	3	15641991	15641991	Human	1	name , alternate_id
13828221	CV578670	deletion	NM_001370658.1(BTD):c.346del (p.Gln116fs)	Biotinidase deficiency [RCV003474465]	pathogenic\|likely pathogenic	3	15642001	15642001	Human	1	name , alternate_id
13828032	CV578673	deletion	NM_001370658.1(BTD):c.484del (p.Ser162fs)	Biotinidase deficiency [RCV000021939]	pathogenic	3	15644400	15644400	Human		name , alternate_id
13828034	CV578677	deletion	NM_001370658.1(BTD):c.534del (p.Val179fs)	Biotinidase deficiency [RCV000021946]	pathogenic	3	15644450	15644450	Human		name , alternate_id
13828225	CV578678	deletion	NM_001370658.1(BTD):c.571del (p.Arg191fs)	Biotinidase deficiency [RCV000714998]	pathogenic	3	15644486	15644486	Human		name , alternate_id
13828227	CV578680	deletion	NM_001370658.1(BTD):c.633del (p.Phe212fs)	Biotinidase deficiency [RCV000715000]	pathogenic	3	15644548	15644548	Human		name , alternate_id
13828040	CV578687	deletion	NM_001370658.1(BTD):c.989del (p.Ala330fs)	Biotinidase deficiency [RCV000021979]	pathogenic	3	15644905	15644905	Human		name , alternate_id
13828841	CV581751	deletion	NM_001370658.1(BTD):c.577del (p.His193fs)	Biotinidase deficiency [RCV000721974]	pathogenic\|likely pathogenic	3	15644493	15644493	Human	1	name , alternate_id
14395313	CV611037	single nucleotide variant	NM_001370658.1(BTD):c.1278T>C (p.Leu426=)	not provided [RCV000759003]	uncertain significance	3	15645194	15645194	Human		name
14710371	CV650327	single nucleotide variant	NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)	Biotinidase deficiency [RCV000814343]	uncertain significance	3	15635618	15635618	Human	1	name , alternate_id
15108343	CV694976	single nucleotide variant	NM_001370658.1(BTD):c.1014T>C (p.His338=)	Biotinidase deficiency [RCV000871677]	likely benign	3	15644930	15644930	Human	1	name , alternate_id
15137446	CV758691	single nucleotide variant	NM_001370658.1(BTD):c.1188C>T (p.His396=)	Biotinidase deficiency [RCV000921173]	likely benign	3	15645104	15645104	Human	1	name , alternate_id
15169834	CV758692	single nucleotide variant	NM_001370658.1(BTD):c.1362A>G (p.Glu454=)	BTD-related disorder [RCV003903068]\|Biotinidase deficiency [RCV000927579]	likely benign	3	15645278	15645278	Human	2	name , trait , alternate_id
15146588	CV774287	single nucleotide variant	NM_001370658.1(BTD):c.1092C>T (p.Thr364=)	Biotinidase deficiency [RCV000944771]	likely benign	3	15645008	15645008	Human	1	name , alternate_id
15108505	CV774288	single nucleotide variant	NM_001370658.1(BTD):c.1161T>C (p.Pro387=)	Biotinidase deficiency [RCV002066168]	likely benign	3	15645077	15645077	Human	1	name , alternate_id
15145488	CV774289	single nucleotide variant	NM_001370658.1(BTD):c.1344C>T (p.Phe448=)	Biotinidase deficiency [RCV000944594]	likely benign	3	15645260	15645260	Human	1	name , alternate_id
15185579	CV786946	single nucleotide variant	NM_001370658.1(BTD):c.1101C>T (p.Asn367=)	Biotinidase deficiency [RCV000978132]	likely benign	3	15645017	15645017	Human	1	name , alternate_id
21069822	CV789439	single nucleotide variant	NM_001370658.1(BTD):c.265G>C (p.Val89Leu)	Biotinidase deficiency [RCV003769290]\|not provided [RCV000985645]\|not specified [RCV005408115]	likely pathogenic\|uncertain significance	3	15641923	15641923	Human	1	name , alternate_id
21071157	CV790349	single nucleotide variant	NM_001370658.1(BTD):c.262A>G (p.Ile88Val)	Biotinidase deficiency [RCV000987130]\|not specified [RCV001844252]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15641920	15641920	Human	1	name , alternate_id
21071161	CV790352	deletion	NM_001370658.1(BTD):c.798del (p.Ala267fs)	Biotinidase deficiency [RCV000987133]	pathogenic	3	15644712	15644712	Human	1	name , alternate_id
126737070	CV1004559	single nucleotide variant	NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)	Biotinidase deficiency [RCV001313934]	uncertain significance	3	15642040	15642040	Human	1	name , alternate_id
126755018	CV1004560	single nucleotide variant	NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)	Biotinidase deficiency [RCV001327642]\|not provided [RCV001800982]	likely pathogenic\|uncertain significance	3	15644667	15644667	Human	1	name , alternate_id
126912222	CV1037333	single nucleotide variant	NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)	Biotinidase deficiency [RCV002476631]\|not provided [RCV001356279]	uncertain significance	3	15642035	15642035	Human	1	name , alternate_id
127268734	CV1059663	duplication	NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)	Biotinidase deficiency [RCV001389326]	pathogenic	3	15635494	15635495	Human	1	name , alternate_id
127263621	CV1059664	single nucleotide variant	NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)	Biotinidase deficiency [RCV001381017]	pathogenic	3	15642017	15642017	Human	1	name , alternate_id
127259477	CV1059665	duplication	NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)	Biotinidase deficiency [RCV001380155]	pathogenic	3	15644658	15644659	Human	1	name , alternate_id
150450716	CV1200368	single nucleotide variant	NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)	Biotinidase deficiency [RCV001580645]	uncertain significance	3	15644414	15644414	Human	1	name , alternate_id
150430256	CV1226160	single nucleotide variant	NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)	Biotinidase deficiency [RCV001619776]	likely pathogenic\|conflicting interpretations of pathogenicity	3	15644332	15644332	Human	1	name , alternate_id
150545508	CV1315636	duplication	NM_001370658.1(BTD):c.1103dup (p.Asn369fs)	Biotinidase deficiency [RCV001784055]	pathogenic	3	15645018	15645019	Human	1	name , alternate_id
151349563	CV1321379	single nucleotide variant	NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)	Biotinidase deficiency [RCV001802360]	uncertain significance	3	15644551	15644551	Human	1	name , alternate_id
151741681	CV1335518	single nucleotide variant	NM_001370658.1(BTD):c.424G>C (p.Ala142Pro)	Biotinidase deficiency [RCV001845039]	pathogenic	3	15644340	15644340	Human	1	name , alternate_id
151892210	CV1337368	single nucleotide variant	NM_001370658.1(BTD):c.944C>T (p.Ala315Val)	Biotinidase deficiency [RCV001943876]	uncertain significance	3	15644860	15644860	Human	1	name , alternate_id
151799643	CV1347640	single nucleotide variant	NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)	Biotinidase deficiency [RCV002027967]	uncertain significance	3	15644507	15644507	Human	1	name , alternate_id
151810186	CV1348433	single nucleotide variant	NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)	Biotinidase deficiency [RCV001878189]\|Inborn genetic diseases [RCV002548681]	uncertain significance	3	15644828	15644828	Human	2	name , alternate_id
151736183	CV1351340	single nucleotide variant	NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)	Biotinidase deficiency [RCV002021838]\|Inborn genetic diseases [RCV003348686]	uncertain significance	3	15644833	15644833	Human	2	name , alternate_id
151762246	CV1369645	single nucleotide variant	NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)	Biotinidase deficiency [RCV001928662]	pathogenic\|likely pathogenic	3	15644432	15644432	Human	1	name , alternate_id
151889069	CV1402537	single nucleotide variant	NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)	Biotinidase deficiency [RCV001942720]	uncertain significance	3	15644700	15644700	Human	1	name , alternate_id
151783901	CV1435154	single nucleotide variant	NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)	Biotinidase deficiency [RCV001916129]	pathogenic	3	15644504	15644504	Human	1	name , alternate_id
151794927	CV1435537	single nucleotide variant	NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)	Biotinidase deficiency [RCV001931772]	uncertain significance	3	15644360	15644360	Human	1	name , alternate_id
151734021	CV1494333	single nucleotide variant	NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)	Biotinidase deficiency [RCV001946342]	uncertain significance	3	15644733	15644733	Human	1	name , alternate_id
151838500	CV1501398	single nucleotide variant	NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)	Biotinidase deficiency [RCV001977408]	conflicting interpretations of pathogenicity\|uncertain significance	3	15641978	15641978	Human	1	name , alternate_id
151792944	CV1511131	single nucleotide variant	NM_001370658.1(BTD):c.846C>G (p.His282Gln)	Biotinidase deficiency [RCV001990247]	uncertain significance	3	15644762	15644762	Human	1	name , alternate_id
9586971	CV165805	single nucleotide variant	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	Biotinidase deficiency [RCV000144057]\|not provided [RCV000985647]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15642053	15642053	Human	1	name , alternate_id
9586972	CV165806	single nucleotide variant	NM_001370658.1(BTD):c.623A>G (p.Asp208Gly)	Biotinidase deficiency [RCV000144059]	pathogenic	3	15644539	15644539	Human	1	name , alternate_id
9586973	CV165807	single nucleotide variant	NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	Biotinidase deficiency [RCV000144060]	pathogenic\|likely pathogenic	3	15644557	15644557	Human	1	name , alternate_id
9586974	CV165808	single nucleotide variant	NM_001370658.1(BTD):c.838A>C (p.Asn280His)	Biotinidase deficiency [RCV000144061]\|not provided [RCV000494587]	pathogenic\|likely pathogenic	3	15644754	15644754	Human	1	name , alternate_id
9586975	CV165809	duplication	NM_001370658.1(BTD):c.1312dup (p.Cys438fs)	Biotinidase deficiency [RCV000144062]	pathogenic	3	15645227	15645228	Human	1	name , alternate_id
8595535	CV16940	single nucleotide variant	NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	Biotinidase deficiency [RCV000001978]\|not provided [RCV000445043]	pathogenic	3	15644611	15644611	Human	1	name , alternate_id
155794821	CV1694318	single nucleotide variant	NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)	Biotinidase deficiency [RCV002466297]	likely pathogenic	3	15644591	15644591	Human	1	name , alternate_id
155266731	CV1697494	single nucleotide variant	NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)	Biotinidase deficiency [RCV002281633]	pathogenic\|likely pathogenic\|uncertain significance	3	15644466	15644466	Human	1	name , alternate_id
155644414	CV1707444	single nucleotide variant	NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)	Biotinidase deficiency [RCV002288374]	uncertain significance	3	15644473	15644473	Human	1	name , alternate_id
155678902	CV1777488	single nucleotide variant	NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)	Biotinidase deficiency [RCV002302983]	uncertain significance	3	15644410	15644410	Human	1	name , alternate_id
156412740	CV1886891	single nucleotide variant	NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)	Biotinidase deficiency [RCV003073016]	uncertain significance	3	15644844	15644844	Human	1	name , alternate_id
156412419	CV1904428	single nucleotide variant	NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)	Biotinidase deficiency [RCV002587814]	uncertain significance	3	15644406	15644406	Human	1	name , alternate_id
155943070	CV1920834	single nucleotide variant	NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)	Biotinidase deficiency [RCV002615766]	uncertain significance	3	15642031	15642031	Human	1	name , alternate_id
156162254	CV1925541	single nucleotide variant	NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)	Biotinidase deficiency [RCV002664293]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644335	15644335	Human	1	name , alternate_id
156170079	CV1930147	single nucleotide variant	NM_001370658.1(BTD):c.727G>T (p.Val243Leu)	Biotinidase deficiency [RCV002624677]\|Inborn genetic diseases [RCV002624678]	uncertain significance	3	15644643	15644643	Human	2	name , alternate_id
156408187	CV1957754	single nucleotide variant	NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)	Biotinidase deficiency [RCV002586446]	pathogenic	3	15642004	15642004	Human	1	name , alternate_id
156146387	CV1970723	single nucleotide variant	NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)	Biotinidase deficiency [RCV002594004]	uncertain significance	3	15641998	15641998	Human	1	name , alternate_id
156383852	CV1979681	single nucleotide variant	NM_001370658.1(BTD):c.765G>C (p.Gln255His)	Biotinidase deficiency [RCV002634476]\|Inborn genetic diseases [RCV004965974]	uncertain significance	3	15644681	15644681	Human	2	name , alternate_id
155989123	CV1979770	single nucleotide variant	NM_001370658.1(BTD):c.423G>A (p.Met141Ile)	Biotinidase deficiency [RCV002617941]	uncertain significance	3	15644339	15644339	Human	1	name , alternate_id
156280356	CV2005217	single nucleotide variant	NM_001370658.1(BTD):c.965T>C (p.Val322Ala)	Biotinidase deficiency [RCV002646822]	uncertain significance	3	15644881	15644881	Human	1	name , alternate_id
156371062	CV2007750	single nucleotide variant	NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)	Biotinidase deficiency [RCV002676902]	uncertain significance	3	15644635	15644635	Human	1	name , alternate_id
156119644	CV2013640	single nucleotide variant	NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)	Biotinidase deficiency [RCV002740147]\|not specified [RCV005406509]	uncertain significance	3	15642027	15642027	Human	1	name , alternate_id
156242479	CV2053162	single nucleotide variant	NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)	Biotinidase deficiency [RCV002791402]	uncertain significance	3	15644878	15644878	Human	1	name , alternate_id
156107130	CV2072285	single nucleotide variant	NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)	Biotinidase deficiency [RCV002870752]	uncertain significance	3	15644898	15644898	Human	1	name , alternate_id
156279097	CV2074543	duplication	NM_001370658.1(BTD):c.1092dup (p.Lys365fs)	Biotinidase deficiency [RCV002856318]	pathogenic	3	15645006	15645007	Human	1	name , alternate_id
156088935	CV2092261	single nucleotide variant	NM_001370658.1(BTD):c.968G>T (p.Gly323Val)	Biotinidase deficiency [RCV002912966]	uncertain significance	3	15644884	15644884	Human	1	name , alternate_id
156167574	CV2102317	single nucleotide variant	NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)	Biotinidase deficiency [RCV002891223]	uncertain significance	3	15642005	15642005	Human	1	name , alternate_id
156006468	CV2127424	single nucleotide variant	NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)	Biotinidase deficiency [RCV002948044]	uncertain significance	3	15644741	15644741	Human	1	name , alternate_id
156104204	CV2139815	single nucleotide variant	NM_001370658.1(BTD):c.826G>A (p.Val276Ile)	Biotinidase deficiency [RCV003002332]\|Inborn genetic diseases [RCV004068392]	uncertain significance	3	15644742	15644742	Human	2	name , alternate_id
155990826	CV2281003	single nucleotide variant	NM_001370658.1(BTD):c.995G>A (p.Gly332Asp)	Inborn genetic diseases [RCV002882423]	uncertain significance	3	15644911	15644911	Human	1	name
156304156	CV2359534	single nucleotide variant	NM_001370658.1(BTD):c.748A>G (p.Thr250Ala)	Inborn genetic diseases [RCV003010555]	uncertain significance	3	15644664	15644664	Human	1	name
243057906	CV2410847	duplication	NM_001370658.1(BTD):c.1030dup (p.Ile344fs)	Biotinidase deficiency [RCV003135875]	pathogenic	3	15644941	15644942	Human	1	name , alternate_id
329351058	CV2477888	single nucleotide variant	NM_001370658.1(BTD):c.896C>T (p.Ser299Phe)	not provided [RCV003224001]	likely pathogenic	3	15644812	15644812	Human		name
11632889	CV264145	duplication	NM_001370658.1(BTD):c.1350dup (p.Cys451fs)	Biotinidase deficiency [RCV000411318]\|not provided [RCV000296640]	pathogenic\|likely pathogenic	3	15645264	15645265	Human	1	name , alternate_id
329952862	CV2670244	single nucleotide variant	NM_001370658.1(BTD):c.606T>A (p.Asp202Glu)	not provided [RCV003233454]	uncertain significance	3	15644522	15644522	Human		name
401750223	CV2736777	single nucleotide variant	NM_001370658.1(BTD):c.436G>A (p.Asp146Asn)	not provided [RCV003313539]	uncertain significance	3	15644352	15644352	Human		name
11643393	CV273937	single nucleotide variant	NM_001370658.1(BTD):c.380A>G (p.His127Arg)	not provided [RCV000392405]	uncertain significance	3	15642038	15642038	Human		name
401904953	CV2827192	single nucleotide variant	NM_001370658.1(BTD):c.808G>A (p.Val270Ile)	not provided [RCV003437719]	uncertain significance	3	15644724	15644724	Human		name
401949651	CV2838761	single nucleotide variant	NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)	Biotinidase deficiency [RCV003474457]	likely pathogenic	3	15644382	15644382	Human	1	name , alternate_id
401949646	CV2838764	single nucleotide variant	NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)	Biotinidase deficiency [RCV003474462]	pathogenic\|likely pathogenic	3	15644862	15644862	Human	1	name , alternate_id
402480297	CV2861003	deletion	NM_001370658.1(BTD):c.1207del (p.Cys403fs)	Biotinidase deficiency [RCV003498107]	pathogenic	3	15645123	15645123	Human	1	name , alternate_id
402480589	CV2894486	single nucleotide variant	NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)	Biotinidase deficiency [RCV003499924]	pathogenic	3	15644587	15644587	Human	1	name , alternate_id
11634992	CV290036	single nucleotide variant	NM_001370658.1(BTD):c.847C>T (p.His283Tyr)	Biotinidase deficiency [RCV000298188]	uncertain significance	3	15644763	15644763	Human	1	name , alternate_id
402523112	CV2938589	single nucleotide variant	NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)	Biotinidase deficiency [RCV003600609]	likely pathogenic	3	15644335	15644335	Human	1	name , alternate_id
402523129	CV2956762	single nucleotide variant	NM_001370658.1(BTD):c.875G>T (p.Gly292Val)	Biotinidase deficiency [RCV003600684]	likely pathogenic	3	15644791	15644791	Human	1	name , alternate_id
405035178	CV3001743	single nucleotide variant	NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)	Biotinidase deficiency [RCV003602127]\|not specified [RCV005419678]	likely pathogenic\|uncertain significance	3	15642022	15642022	Human	1	name , alternate_id
402523339	CV3015329	single nucleotide variant	NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)	Biotinidase deficiency [RCV003602392]	likely pathogenic	3	15644556	15644556	Human	1	name , alternate_id
402524397	CV3026933	single nucleotide variant	NM_001370658.1(BTD):c.881A>T (p.His294Leu)	Biotinidase deficiency [RCV003600057]	likely pathogenic	3	15644797	15644797	Human	1	name , alternate_id
402516415	CV3135843	single nucleotide variant	NM_001370658.1(BTD):c.449T>C (p.Val150Ala)	Biotinidase deficiency [RCV003824469]	uncertain significance	3	15644365	15644365	Human	1	name , alternate_id
405204771	CV3165587	single nucleotide variant	NM_001370658.1(BTD):c.737T>A (p.Val246Asp)	Biotinidase deficiency [RCV003861253]	uncertain significance	3	15644653	15644653	Human	1	name , alternate_id
405272026	CV3197534	single nucleotide variant	NM_001370658.1(BTD):c.662G>A (p.Gly221Asp)	BTD-related disorder [RCV003901503]	uncertain significance	3	15644578	15644578	Human		name , trait , alternate_id
405705880	CV3224854	deletion	NM_001370658.1(BTD):c.38_44del (p.Cys13fs)	Biotinidase deficiency [RCV003990234]\|not provided [RCV004810666]	pathogenic\|uncertain significance	3	15635477	15635483	Human	1	name , alternate_id
405855231	CV3393993	deletion	NM_001370658.1(BTD):c.91_92del (p.Asp31fs)	Biotinidase deficiency [RCV004547219]	likely pathogenic	3	15635530	15635531	Human	1	name , alternate_id
405870146	CV3399966	deletion	NM_001370658.1(BTD):c.1334del (p.Gly445fs)	Biotinidase deficiency [RCV004575469]	likely pathogenic	3	15645246	15645246	Human	1	name , alternate_id
405870144	CV3399967	deletion	NM_001370658.1(BTD):c.1000del (p.Thr334fs)	Biotinidase deficiency [RCV004575470]	likely pathogenic	3	15644914	15644914	Human	1	name , alternate_id
405870141	CV3399969	single nucleotide variant	NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter)	Biotinidase deficiency [RCV004575473]	likely pathogenic	3	15644822	15644822	Human	1	name , alternate_id
407424732	CV3410367	single nucleotide variant	NM_001370658.1(BTD):c.690C>G (p.Phe230Leu)	not specified [RCV004587974]	uncertain significance	3	15644606	15644606	Human		name
407428756	CV3410385	microsatellite	NM_001370658.1(BTD):c.70_71del (p.Thr24fs)	Biotinidase deficiency [RCV004587993]	pathogenic\|likely pathogenic	3	15635506	15635507	Human		name , alternate_id
596925934	CV3530635	single nucleotide variant	NM_001370658.1(BTD):c.302C>T (p.Thr101Ile)	not provided [RCV004778220]	uncertain significance	3	15641960	15641960	Human		name
12739929	CV357301	deletion	NM_001370658.1(BTD):c.1264del (p.Val422fs)	Biotinidase deficiency [RCV000410785]	pathogenic\|likely pathogenic	3	15645176	15645176	Human	1	name , alternate_id
12742611	CV359456	single nucleotide variant	NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)	Biotinidase deficiency [RCV000675064]\|not provided [RCV000414058]	likely pathogenic\|uncertain significance	3	15642040	15642040	Human	1	name , alternate_id
12739010	CV360849	deletion	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	Biotinidase deficiency [RCV000987127]\|Cryptorchidism [RCV000415039]	pathogenic\|uncertain significance	3	15635479	15635480	Human	6	name , alternate_id
8601611	CV36339	single nucleotide variant	NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)	Biotinidase deficiency [RCV000021920]\|not provided [RCV000755882]\|not specified [RCV005237401]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15641962	15641962	Human	1	name , alternate_id
8601612	CV36340	single nucleotide variant	NM_001370658.1(BTD):c.322T>G (p.Phe108Val)	Biotinidase deficiency [RCV003474459]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15641980	15641980	Human	1	name , alternate_id
8601613	CV36341	deletion	NM_000060.4(BTD):c.393delC (p.Phe131Leufs)	Biotinidase deficiency [RCV000021922]	pathogenic	3	15641991	15641991	Human		name
8601614	CV36342	single nucleotide variant	NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)	BTD-related disorder [RCV003904859]\|Biotinidase deficiency [RCV000021923]\|Inborn genetic diseases [RCV001266904]\|not provided [RCV000438885]	pathogenic\|likely pathogenic\|uncertain significance	3	15642022	15642022	Human	3	name , trait , alternate_id
8601615	CV36343	single nucleotide variant	NM_001370658.1(BTD):c.383G>A (p.Arg128His)	Biotinidase deficiency [RCV000021924]\|Inborn genetic diseases [RCV002513163]\|not provided [RCV000490188]\|not specified [RCV003226165]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15642041	15642041	Human	2	name , alternate_id
8601617	CV36345	single nucleotide variant	NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)	Biotinidase deficiency [RCV000021926]\|not specified [RCV004700264]	pathogenic\|likely pathogenic\|uncertain significance	3	15642043	15642043	Human	1	name , alternate_id
8601618	CV36346	single nucleotide variant	NM_001370658.1(BTD):c.394A>C (p.Thr132Pro)	Biotinidase deficiency [RCV000021927]	pathogenic	3	15642052	15642052	Human		name , alternate_id
8601621	CV36349	single nucleotide variant	NM_001370658.1(BTD):c.406C>T (p.Gln136Ter)	Biotinidase deficiency [RCV000021930]	pathogenic	3	15644322	15644322	Human	1	name , alternate_id
8601622	CV36350	single nucleotide variant	NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)	Biotinidase deficiency [RCV000021931]\|not provided [RCV000414201]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644325	15644325	Human	1	name , alternate_id
8601623	CV36351	single nucleotide variant	NM_001370658.1(BTD):c.425C>T (p.Ala142Val)	Biotinidase deficiency [RCV000021934]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644341	15644341	Human	1	name , alternate_id
8603974	CV36353	single nucleotide variant	NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	Biotinidase deficiency [RCV000031859]\|Inborn genetic diseases [RCV002514126]\|not provided [RCV000078073]	pathogenic\|conflicting interpretations of pathogenicity\|not provided	3	15644367	15644367	Human	2	name , alternate_id
8601625	CV36354	single nucleotide variant	NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)	Biotinidase deficiency [RCV000021937]\|Inborn genetic diseases [RCV002513164]\|not specified [RCV005237402]	pathogenic\|uncertain significance	3	15644371	15644371	Human	2	name , alternate_id
8601626	CV36355	single nucleotide variant	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	Biotinidase deficiency [RCV000021938]\|Inborn genetic diseases [RCV000623242]\|not provided [RCV000078074]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644384	15644384	Human	2	name , alternate_id
8601627	CV36356	deletion	NM_000060.4(BTD):c.544delA (p.Ser182Valfs)	Biotinidase deficiency [RCV000021939]	pathogenic	3	15644400	15644400	Human		name
8601628	CV36357	single nucleotide variant	NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	Biotinidase deficiency [RCV000021940]\|not provided [RCV000790752]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644413	15644413	Human	1	name , alternate_id
8601630	CV36358	single nucleotide variant	NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)	Biotinidase deficiency [RCV000021942]\|not provided [RCV000727575]\|not specified [RCV002298448]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644439	15644439	Human	1	name , alternate_id
8601631	CV36359	single nucleotide variant	NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)	Biotinidase deficiency [RCV002664294]	pathogenic\|likely pathogenic\|uncertain significance	3	15644440	15644440	Human	1	name , alternate_id
8601632	CV36360	single nucleotide variant	NM_001370658.1(BTD):c.527C>G (p.Thr176Arg)	Biotinidase deficiency [RCV000021944]	pathogenic	3	15644443	15644443	Human		name , alternate_id
8601634	CV36362	deletion	NM_000060.4(BTD):c.594delC (p.Val199Cysfs)	Biotinidase deficiency [RCV000021946]	pathogenic	3	15644450	15644450	Human		name
8601635	CV36363	single nucleotide variant	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	BTD-related disorder [RCV003415728]\|Biotinidase deficiency [RCV000021947]\|not provided [RCV000985649]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644451	15644451	Human	2	name , trait , alternate_id
8601636	CV36364	single nucleotide variant	NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)	Biotinidase deficiency [RCV002966879]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644461	15644461	Human	1	name , alternate_id
8601638	CV36365	single nucleotide variant	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	Biotinidase deficiency [RCV000021950]\|not provided [RCV000508413]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644487	15644487	Human	1	name , alternate_id
8601639	CV36366	single nucleotide variant	NM_001370658.1(BTD):c.572G>A (p.Arg191His)	BTD-related disorder [RCV004751220]\|Biotinidase deficiency [RCV000021951]\|not provided [RCV000078077]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644488	15644488	Human	2	name , trait , alternate_id
8604069	CV36367	single nucleotide variant	NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)	Biotinidase deficiency [RCV000032022]\|not provided [RCV000520641]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644497	15644497	Human	1	name , alternate_id
8601640	CV36368	single nucleotide variant	NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)	Biotinidase deficiency [RCV000021953]	pathogenic	3	15644499	15644499	Human	1	name , alternate_id
8601642	CV36370	single nucleotide variant	NM_001370658.1(BTD):c.592G>C (p.Glu198Gln)	Biotinidase deficiency [RCV000021955]	pathogenic	3	15644508	15644508	Human		name , alternate_id
8601643	CV36371	single nucleotide variant	NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)	Biotinidase deficiency [RCV003474454]	pathogenic\|likely pathogenic	3	15644510	15644510	Human	1	name , alternate_id
8601644	CV36372	single nucleotide variant	NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	Biotinidase deficiency [RCV003473119]\|not provided [RCV000185805]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644538	15644538	Human	1	name , alternate_id
8601645	CV36373	single nucleotide variant	NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)	Biotinidase deficiency [RCV000021958]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644565	15644565	Human	1	name , alternate_id
8601647	CV36374	single nucleotide variant	NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	Biotinidase deficiency [RCV000021960]\|not provided [RCV001284605]\|not specified [RCV002228053]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644599	15644599	Human	1	name , alternate_id
8601648	CV36376	single nucleotide variant	NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)	Biotinidase deficiency [RCV000021961]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644613	15644613	Human	1	name , alternate_id
8601649	CV36377	single nucleotide variant	NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)	Biotinidase deficiency [RCV000021962]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644620	15644620	Human	1	name , alternate_id
8601650	CV36378	single nucleotide variant	NM_001370658.1(BTD):c.734A>T (p.His245Leu)	Biotinidase deficiency [RCV000021963]	pathogenic	3	15644650	15644650	Human		name , alternate_id
8601661	CV36379	single nucleotide variant	NM_001370658.1(BTD):c.873T>G (p.Ser291Arg)	Biotinidase deficiency [RCV000021975]	pathogenic	3	15644789	15644789	Human		name , alternate_id
8601651	CV36380	single nucleotide variant	NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)	Biotinidase deficiency [RCV000021965]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644670	15644670	Human	1	name , alternate_id
8601652	CV36381	single nucleotide variant	NM_001370658.1(BTD):c.772C>G (p.Leu258Val)	Biotinidase deficiency [RCV000021966]	pathogenic	3	15644688	15644688	Human	1	name , alternate_id
8601653	CV36382	single nucleotide variant	NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)	Biotinidase deficiency [RCV000021967]\|Intellectual disability [RCV001251702]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644689	15644689	Human	3	name , alternate_id
8601654	CV36383	single nucleotide variant	NM_001370658.1(BTD):c.776T>G (p.Leu259Trp)	Biotinidase deficiency [RCV000021968]	pathogenic	3	15644692	15644692	Human		name , alternate_id
8601655	CV36384	single nucleotide variant	NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	BTD-related disorder [RCV003964809]\|Biotinidase deficiency [RCV000021969]\|not provided [RCV000224487]\|not specified [RCV002265566]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	3	15644736	15644736	Human	2	name , trait , alternate_id
8601656	CV36385	single nucleotide variant	NM_001370658.1(BTD):c.827T>G (p.Val276Gly)	Biotinidase deficiency [RCV003497832]\|not provided [RCV001310478]\|not specified [RCV003323364]	pathogenic\|likely pathogenic\|uncertain significance	3	15644743	15644743	Human	1	name , alternate_id
8601657	CV36386	single nucleotide variant	NM_001370658.1(BTD):c.836C>T (p.Ala279Val)	Biotinidase deficiency [RCV003499927]\|not specified [RCV005407184]	pathogenic\|uncertain significance	3	15644752	15644752	Human	1	name , alternate_id
8601658	CV36387	single nucleotide variant	NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)	Biotinidase deficiency [RCV003499928]	pathogenic	3	15644785	15644785	Human	1	name , alternate_id
8601659	CV36388	single nucleotide variant	NM_001370658.1(BTD):c.872G>A (p.Ser291Asn)	Biotinidase deficiency [RCV005139558]	pathogenic\|likely pathogenic	3	15644788	15644788	Human	1	name , alternate_id
8601662	CV36390	single nucleotide variant	NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)	Biotinidase deficiency [RCV000021976]	pathogenic\|uncertain significance	3	15644790	15644790	Human	1	name , alternate_id
8601663	CV36391	single nucleotide variant	NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)	Biotinidase deficiency [RCV000021977]\|not specified [RCV004700265]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644791	15644791	Human	1	name , alternate_id
8601700	CV36426	deletion	NM_001370658.1(BTD):c.1399del (p.Trp467fs)	BTD-related disorder [RCV003398555]\|Biotinidase deficiency [RCV000022017]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15645315	15645315	Human	2	name , trait , alternate_id
8601703	CV36429	duplication	NM_001370658.1(BTD):c.1433dup (p.Leu478fs)	Biotinidase deficiency [RCV000022020]	pathogenic	3	15645346	15645347	Human	1	name , alternate_id
8601708	CV36434	duplication	NM_001370658.1(BTD):c.1556dup (p.Leu519fs)	Biotinidase deficiency [RCV000022025]	pathogenic	3	15645470	15645471	Human		name , alternate_id
8601714	CV36439	single nucleotide variant	NM_001370658.1(BTD):c.604G>C (p.Asp202His)	Biotinidase deficiency [RCV003499923]	pathogenic	3	15644520	15644520	Human	1	name , alternate_id
8601715	CV36440	single nucleotide variant	NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)	Biotinidase deficiency [RCV002651647]\|not specified [RCV005406616]	pathogenic\|uncertain significance	3	15644857	15644857	Human	1	name , alternate_id
8601716	CV36441	single nucleotide variant	NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)	Biotinidase deficiency [RCV000022033]\|not provided [RCV000278976]	pathogenic\|uncertain significance	3	15644902	15644902	Human	1	name , alternate_id
597637454	CV3647122	single nucleotide variant	NM_001370658.1(BTD):c.338C>T (p.Pro113Leu)	Inborn genetic diseases [RCV004970208]	uncertain significance	3	15641996	15641996	Human	1	name
597637458	CV3647123	single nucleotide variant	NM_001370658.1(BTD):c.348G>T (p.Gln116His)	Inborn genetic diseases [RCV004970209]	uncertain significance	3	15642006	15642006	Human	1	name
12848895	CV367000	single nucleotide variant	NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)	Biotinidase deficiency [RCV000675128]\|Inborn genetic diseases [RCV004022351]\|Intellectual disability [RCV001251699]\|not provided [RCV000420327]\|not specified [RCV001731677]	likely pathogenic\|likely benign\|uncertain significance	3	15644520	15644520	Human	4	name , alternate_id
12849365	CV368264	single nucleotide variant	NM_001370658.1(BTD):c.806C>T (p.Ala269Val)	Biotinidase deficiency [RCV000675056]\|not provided [RCV000428786]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644722	15644722	Human	1	name , alternate_id
597705954	CV3720927	single nucleotide variant	NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter)	Biotinidase deficiency [RCV005031310]	likely pathogenic	3	15644486	15644486	Human	1	name , alternate_id
597705966	CV3720929	single nucleotide variant	NM_001370658.1(BTD):c.782C>T (p.Ala261Val)	Biotinidase deficiency [RCV005031311]	likely pathogenic	3	15644698	15644698	Human	1	name , alternate_id
597706296	CV3720934	deletion	NM_001370658.1(BTD):c.1499del (p.Phe500fs)	Biotinidase deficiency [RCV005035053]	likely pathogenic	3	15645413	15645413	Human	1	name , alternate_id
597701223	CV3731279	duplication	NM_001370658.1(BTD):c.1264dup (p.Val422fs)	not provided [RCV004999111]	likely pathogenic	3	15645175	15645176	Human		name
597975569	CV3828578	single nucleotide variant	NM_001370658.1(BTD):c.311C>T (p.Ser104Phe)	Biotinidase deficiency [RCV005169207]	likely pathogenic	3	15641969	15641969	Human	1	name , alternate_id
597855826	CV3856201	single nucleotide variant	NM_001370658.1(BTD):c.845A>G (p.His282Arg)	Biotinidase deficiency [RCV005202430]	likely pathogenic	3	15644761	15644761	Human	1	name , alternate_id
597856185	CV3863307	single nucleotide variant	NM_001370658.1(BTD):c.553A>G (p.Thr185Ala)	Biotinidase deficiency [RCV005206833]	uncertain significance	3	15644469	15644469	Human	1	name , alternate_id
598122075	CV3884416	single nucleotide variant	NM_001370658.1(BTD):c.872G>C (p.Ser291Thr)	not specified [RCV005237108]	uncertain significance	3	15644788	15644788	Human		name
598242100	CV3891870	single nucleotide variant	NM_001370658.1(BTD):c.676T>C (p.Phe226Leu)	Biotinidase deficiency [RCV005253208]	uncertain significance	3	15644592	15644592	Human	1	name , alternate_id
598186634	CV3949807	single nucleotide variant	NM_001370658.1(BTD):c.740T>C (p.Val247Ala)	Inborn genetic diseases [RCV005311889]	uncertain significance	3	15644656	15644656	Human	1	name
617153471	CV4016941	single nucleotide variant	NM_001370658.1(BTD):c.763C>T (p.Gln255Ter)	Biotinidase deficiency [RCV005416064]	likely pathogenic	3	15644679	15644679	Human	1	name , alternate_id
617153983	CV4018013	single nucleotide variant	NM_001370658.1(BTD):c.443T>A (p.Phe148Tyr)	not specified [RCV005417803]	uncertain significance	3	15644359	15644359	Human		name
617153982	CV4018014	single nucleotide variant	NM_001370658.1(BTD):c.625C>T (p.Leu209Phe)	not specified [RCV005417804]	uncertain significance	3	15644541	15644541	Human		name
12913651	CV421423	single nucleotide variant	NM_001370658.1(BTD):c.684A>G (p.Ile228Met)	not provided [RCV000494084]	pathogenic\|likely pathogenic\|uncertain significance	3	15644600	15644600	Human		name
12912738	CV421424	single nucleotide variant	NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)	Biotinidase deficiency [RCV000689556]\|not provided [RCV000492955]	uncertain significance	3	15644733	15644733	Human	1	name , alternate_id
13436123	CV432545	single nucleotide variant	NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)	Biotinidase deficiency [RCV001234656]\|Inborn genetic diseases [RCV002524900]\|not specified [RCV000506608]	uncertain significance	3	15644569	15644569	Human	2	name , alternate_id
13437208	CV432546	single nucleotide variant	NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	Biotinidase deficiency [RCV000715008]\|not provided [RCV000508475]\|not specified [RCV004689768]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644751	15644751	Human	1	name , alternate_id
13491549	CV451903	single nucleotide variant	NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)	Biotinidase deficiency [RCV000556792]	uncertain significance	3	15644461	15644461	Human	1	name , alternate_id
13495783	CV452116	single nucleotide variant	NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)	Biotinidase deficiency [RCV000537387]\|Inborn genetic diseases [RCV002527692]\|not provided [RCV001591206]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644481	15644481	Human	2	name , alternate_id
13488169	CV452259	single nucleotide variant	NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)	Biotinidase deficiency [RCV000532215]\|Inborn genetic diseases [RCV002527691]\|not specified [RCV005407696]	uncertain significance	3	15644397	15644397	Human	2	name , alternate_id
8601637	CV46830	single nucleotide variant	NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	Biotinidase deficiency [RCV000021949]\|not provided [RCV000724129]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15644485	15644485	Human	1	name , alternate_id
8601629	CV46832	single nucleotide variant	NM_001370658.1(BTD):c.499C>T (p.Pro167Ser)	Biotinidase deficiency [RCV005023650]\|not specified [RCV004699969]	pathogenic\|likely pathogenic\|uncertain significance	3	15644415	15644415	Human	1	name , alternate_id
8601664	CV46833	single nucleotide variant	NM_001370658.1(BTD):c.908A>G (p.His303Arg)	Biotinidase deficiency [RCV000021978]\|Inborn genetic diseases [RCV000622271]\|not provided [RCV000723564]\|not specified [RCV002298452]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644824	15644824	Human	2	name , alternate_id
8601646	CV46836	single nucleotide variant	NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)	Biotinidase deficiency [RCV000021959]\|not provided [RCV000724643]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644590	15644590	Human	1	name , alternate_id
8601596	CV46845	single nucleotide variant	NM_001370658.1(BTD):c.410G>A (p.Arg137His)	Biotinidase deficiency [RCV000021904]\|not provided [RCV000078072]	pathogenic	3	15644326	15644326	Human	1	name , alternate_id
13828234	CV46848	single nucleotide variant	NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)	Biotinidase deficiency [RCV001975221]	pathogenic	3	15644721	15644721	Human	1	name , alternate_id
8604066	CV47164	single nucleotide variant	NM_001370658.1(BTD):c.458T>G (p.Leu153Arg)	not specified [RCV004690928]	pathogenic\|uncertain significance	3	15644374	15644374	Human		name
8604067	CV47165	single nucleotide variant	NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)	Biotinidase deficiency [RCV003499925]\|not specified [RCV005240824]	pathogenic\|likely pathogenic\|uncertain significance	3	15644614	15644614	Human	1	name , alternate_id
8604070	CV47168	duplication	NM_001370658.1(BTD):c.1334dup (p.Leu446fs)	Biotinidase deficiency [RCV000032023]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15645245	15645246	Human	1	name , alternate_id
13786320	CV542860	single nucleotide variant	NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)	Biotinidase deficiency [RCV000672734]	pathogenic\|likely pathogenic	3	15642018	15642018	Human	1	name , alternate_id
13784232	CV542866	single nucleotide variant	NM_001370658.1(BTD):c.795G>C (p.Gln265His)	Biotinidase deficiency [RCV000670667]	uncertain significance	3	15644711	15644711	Human	1	name , alternate_id
13788932	CV542868	single nucleotide variant	NM_001370658.1(BTD):c.862A>C (p.Met288Leu)	Biotinidase deficiency [RCV000665673]\|not specified [RCV001779041]	uncertain significance	3	15644778	15644778	Human	1	name , alternate_id
13784902	CV542870	single nucleotide variant	NM_001370658.1(BTD):c.881A>G (p.His294Arg)	Biotinidase deficiency [RCV000671387]\|not specified [RCV001779048]	uncertain significance	3	15644797	15644797	Human	1	name , alternate_id
13792424	CV542895	deletion	NM_001370658.1(BTD):c.1503del (p.Arg502fs)	Biotinidase deficiency [RCV000668694]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645419	15645419	Human	1	name , alternate_id
13786540	CV543056	duplication	NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)	Biotinidase deficiency [RCV000672895]	pathogenic\|likely pathogenic	3	15645410	15645411	Human	1	name , alternate_id
13783769	CV543112	single nucleotide variant	NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)	Biotinidase deficiency [RCV000670326]	uncertain significance	3	15644802	15644802	Human	1	name , alternate_id
13787526	CV543128	deletion	NM_001370658.1(BTD):c.58_59del (p.Leu20fs)	Biotinidase deficiency [RCV000664888]	likely pathogenic	3	15635497	15635498	Human	1	name , alternate_id
13821798	CV559363	deletion	NM_001370658.1(BTD):c.1419del (p.Tyr474fs)	Biotinidase deficiency [RCV000696396]	pathogenic\|likely pathogenic	3	15645334	15645334	Human	1	name , alternate_id
13817454	CV561229	single nucleotide variant	NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)	Biotinidase deficiency [RCV000693060]\|not specified [RCV004689858]	pathogenic\|likely pathogenic\|uncertain significance	3	15644335	15644335	Human	1	name , alternate_id
13828222	CV578671	single nucleotide variant	NM_001370658.1(BTD):c.368G>T (p.Cys123Phe)	Biotinidase deficiency [RCV000714995]	likely pathogenic	3	15642026	15642026	Human		name , alternate_id
13828223	CV578674	single nucleotide variant	NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)	Biotinidase deficiency [RCV002651645]	uncertain significance	3	15644422	15644422	Human	1	name , alternate_id
13828224	CV578675	single nucleotide variant	NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)	Biotinidase deficiency [RCV000714997]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644438	15644438	Human	1	name , alternate_id
13828226	CV578679	single nucleotide variant	NM_001370658.1(BTD):c.586T>A (p.Tyr196Asn)	Biotinidase deficiency [RCV000714999]	pathogenic	3	15644502	15644502	Human		name , alternate_id
13828228	CV578681	single nucleotide variant	NM_001370658.1(BTD):c.635T>C (p.Phe212Ser)	Biotinidase deficiency [RCV000715001]	pathogenic	3	15644551	15644551	Human		name , alternate_id
13828229	CV578682	single nucleotide variant	NM_001370658.1(BTD):c.710T>A (p.Val237Asp)	Biotinidase deficiency [RCV003499926]\|not specified [RCV004801364]	pathogenic\|likely pathogenic\|uncertain significance	3	15644626	15644626	Human	1	name , alternate_id
13828230	CV578683	single nucleotide variant	NM_001370658.1(BTD):c.723C>G (p.Tyr241Ter)	Biotinidase deficiency [RCV000715003]	pathogenic	3	15644639	15644639	Human		name , alternate_id
13828231	CV578684	single nucleotide variant	NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)	Biotinidase deficiency [RCV003155628]	pathogenic\|likely pathogenic\|uncertain significance	3	15644671	15644671	Human	1	name , alternate_id
13828232	CV578685	single nucleotide variant	NM_001370658.1(BTD):c.776T>A (p.Leu259Ter)	Biotinidase deficiency [RCV000715005]	pathogenic	3	15644692	15644692	Human		name , alternate_id
13828233	CV578686	single nucleotide variant	NM_001370658.1(BTD):c.796A>G (p.Lys266Glu)	Biotinidase deficiency [RCV000715006]	pathogenic	3	15644712	15644712	Human		name , alternate_id
13828043	CV578690	deletion	NM_001370658.1(BTD):c.1179del (p.Tyr394fs)	Biotinidase deficiency [RCV000021993]	pathogenic	3	15645095	15645095	Human		name , alternate_id
13828045	CV578691	duplication	NM_001370658.1(BTD):c.1204dup (p.Leu402fs)	Biotinidase deficiency [RCV003135874]	pathogenic	3	15645120	15645120	Human	1	name , alternate_id
13828048	CV578694	deletion	NM_001370658.1(BTD):c.1324del (p.Arg442fs)	Biotinidase deficiency [RCV001947003]	pathogenic\|likely pathogenic	3	15645240	15645240	Human	1	name , alternate_id
13828237	CV578695	deletion	NM_001370658.1(BTD):c.1398del (p.Trp467fs)	Biotinidase deficiency [RCV000715012]	pathogenic	3	15645314	15645314	Human		name , alternate_id
13828050	CV578696	duplication	NM_000060.4(BTD):c.1493dup (p.Leu498Phefs)	Biotinidase deficiency [RCV000022020]	pathogenic	3	15645349	15645349	Human		name
13828051	CV578699	duplication	NM_000060.4(BTD):c.1616dup (p.Leu539Phefs)	Biotinidase deficiency [RCV000022025]	pathogenic	3	15645472	15645472	Human		name
14693254	CV620115	deletion	NM_001370658.1(BTD):c.41_44del (p.Gly14fs)	Biotinidase deficiency [RCV000778682]\|not provided [RCV001090471]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15635479	15635482	Human	1	name , alternate_id
15124111	CV758690	single nucleotide variant	NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)	Biotinidase deficiency [RCV000918930]	likely benign	3	15644913	15644913	Human	1	name , alternate_id
21069823	CV789440	single nucleotide variant	NM_001370658.1(BTD):c.392A>G (p.Asp131Gly)	not provided [RCV000985646]	uncertain significance	3	15642050	15642050	Human		name
21071154	CV790347	deletion	NM_001370658.1(BTD):c.44_45del (p.Cys15fs)	Biotinidase deficiency [RCV000987128]	pathogenic\|likely pathogenic\|uncertain significance	3	15635482	15635483	Human	1	name , alternate_id
21071158	CV790350	single nucleotide variant	NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)	Biotinidase deficiency [RCV000987131]	likely pathogenic\|conflicting interpretations of pathogenicity	3	15644412	15644412	Human	1	name , alternate_id
21071160	CV790351	single nucleotide variant	NM_001370658.1(BTD):c.705C>G (p.Ile235Met)	Biotinidase deficiency [RCV000987132]	likely pathogenic	3	15644621	15644621	Human	1	name , alternate_id
21068506	CV795358	single nucleotide variant	NM_001370658.1(BTD):c.739G>T (p.Val247Leu)	not provided [RCV000998008]	uncertain significance	3	15644655	15644655	Human		name
40906630	CV977815	single nucleotide variant	NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)	Biotinidase deficiency [RCV001280042]	uncertain significance	3	15644532	15644532	Human	1	name , alternate_id
8639326	CV98311	single nucleotide variant	NM_001370658.1(BTD):c.566G>A (p.Arg189His)	BTD-related disorder [RCV003905037]\|Biotinidase deficiency [RCV000144058]\|not provided [RCV000507456]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15644482	15644482	Human	2	name , trait , alternate_id
8639327	CV98312	single nucleotide variant	NM_001370658.1(BTD):c.682A>G (p.Ile228Val)	not provided [RCV000078079]	uncertain significance	3	15644598	15644598	Human		name
8639328	CV98313	single nucleotide variant	NM_001370658.1(BTD):c.770C>T (p.Pro257Leu)	not provided [RCV000078080]	uncertain significance	3	15644686	15644686	Human		name
8639329	CV98314	single nucleotide variant	NM_001370658.1(BTD):c.844C>T (p.His282Tyr)	Biotinidase deficiency [RCV002513820]\|Inborn genetic diseases [RCV002515754]\|not provided [RCV000078081]	uncertain significance	3	15644760	15644760	Human	2	name , alternate_id
126760612	CV989333	single nucleotide variant	NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)	Biotinidase deficiency [RCV001299844]	likely pathogenic\|uncertain significance	3	15644412	15644412	Human	1	name , alternate_id
126765896	CV989334	single nucleotide variant	NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)	Biotinidase deficiency [RCV001301669]	likely pathogenic\|uncertain significance	3	15644598	15644598	Human	1	name , alternate_id
126751803	CV1004561	single nucleotide variant	NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)	Biotinidase deficiency [RCV001326990]	uncertain significance	3	15645105	15645105	Human	1	name , alternate_id
150412548	CV1185905	single nucleotide variant	NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)	Biotinidase deficiency [RCV001559251]	uncertain significance	3	15645051	15645051	Human	1	name , alternate_id
151349689	CV1321603	single nucleotide variant	NM_001370658.1(BTD):c.1473G>C (p.Gln491His)	Biotinidase deficiency [RCV001802585]	uncertain significance	3	15645389	15645389	Human	1	name , alternate_id
151890350	CV1350503	single nucleotide variant	NM_001370658.1(BTD):c.1289A>C (p.His430Pro)	Biotinidase deficiency [RCV002038794]\|not provided [RCV004999617]	uncertain significance	3	15645205	15645205	Human	1	name , alternate_id
151852146	CV1360916	single nucleotide variant	NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)	Biotinidase deficiency [RCV001904240]	likely pathogenic\|uncertain significance	3	15645187	15645187	Human	1	name , alternate_id
151820220	CV1363343	single nucleotide variant	NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)	Biotinidase deficiency [RCV002049719]	uncertain significance	3	15645142	15645142	Human	1	name , alternate_id
151811499	CV1376707	single nucleotide variant	NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)	Biotinidase deficiency [RCV001899996]\|not provided [RCV004998978]	uncertain significance	3	15645121	15645121	Human	1	name , alternate_id
151818684	CV1390616	single nucleotide variant	NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)	Biotinidase deficiency [RCV001954540]	uncertain significance	3	15645241	15645241	Human	1	name , alternate_id
151865129	CV1405965	single nucleotide variant	NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)	Biotinidase deficiency [RCV001959733]	uncertain significance	3	15645060	15645060	Human	1	name , alternate_id
151878775	CV1409963	single nucleotide variant	NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)	Biotinidase deficiency [RCV001940731]	uncertain significance	3	15645075	15645075	Human	1	name , alternate_id
151789813	CV1413267	single nucleotide variant	NM_001370658.1(BTD):c.1013A>G (p.His338Arg)	Biotinidase deficiency [RCV001989965]	uncertain significance	3	15644929	15644929	Human	1	name , alternate_id
151795508	CV1437649	single nucleotide variant	NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)	Biotinidase deficiency [RCV001876901]	uncertain significance	3	15645214	15645214	Human	1	name , alternate_id
151885541	CV1451717	single nucleotide variant	NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)	Biotinidase deficiency [RCV002000503]\|Inborn genetic diseases [RCV004042441]	uncertain significance	3	15644967	15644967	Human	2	name , alternate_id
151735543	CV1494368	single nucleotide variant	NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)	Biotinidase deficiency [RCV001984666]	uncertain significance	3	15645202	15645202	Human	1	name , alternate_id
8595531	CV16936	single nucleotide variant	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	BTD-related disorder [RCV004751190]\|Biotinidase deficiency [RCV000001974]\|Inborn genetic diseases [RCV004601086]\|not provided [RCV000185809]	pathogenic\|likely pathogenic	3	15645451	15645451	Human	3	name , trait , alternate_id
8595532	CV16937	single nucleotide variant	NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	BTD-related disorder [RCV003421895]\|Biotinidase deficiency [RCV000001975]\|Inborn genetic diseases [RCV003242960]\|not provided [RCV000790794]	pathogenic\|likely pathogenic	3	15645468	15645468	Human	3	name , trait , alternate_id
8595534	CV16939	single nucleotide variant	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD-related disorder [RCV004751192]\|Biotinidase deficiency [RCV000001977]\|Inborn genetic diseases [RCV002381235]\|not provided [RCV000078064]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	3	15645186	15645186	Human	5	name , trait , alternate_id
8595534	CV16939	single nucleotide variant	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD-related disorder [RCV004751192]\|Biotinidase deficiency [RCV000001977]\|Inborn genetic diseases [RCV002381235]\|not provided [RCV000078064]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity	3	15645186	15645187	Human	5	name , trait , alternate_id
8595536	CV16941	single nucleotide variant	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD-related disorder [RCV004751193]\|Biotinidase deficiency [RCV000001979]\|Inborn genetic diseases [RCV004018539]\|Intellectual disability [RCV001251700]\|not provided [RCV000078065]	pathogenic\|likely pathogenic\|likely benign	3	15645224	15645224	Human	5	name , trait , alternate_id
8595537	CV16942	single nucleotide variant	NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)	Biotinidase deficiency [RCV000001980]\|not provided [RCV002272006]\|not specified [RCV003230341]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645322	15645322	Human	1	name , alternate_id
10058757	CV16943	single nucleotide variant	NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	Biotinidase deficiency [RCV000501861]\|not provided [RCV000727665]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|other	3	15645063	15645063	Human	1	name , alternate_id
155794818	CV1694316	duplication	NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)	Biotinidase deficiency [RCV002466295]	likely pathogenic	3	15645299	15645300	Human	1	name , alternate_id
155678396	CV1775403	single nucleotide variant	NM_001370658.1(BTD):c.1068G>C (p.Gln356His)	Biotinidase deficiency [RCV002301094]	uncertain significance	3	15644984	15644984	Human	1	name , alternate_id
155794934	CV1860484	single nucleotide variant	NM_001370658.1(BTD):c.1180T>C (p.Tyr394His)	BTD-related disorder [RCV003896199]\|Inborn genetic diseases [RCV004067561]\|not provided [RCV002467126]	likely benign\|uncertain significance	3	15645096	15645096	Human	2	name , trait , alternate_id
156291173	CV1881852	single nucleotide variant	NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)	Biotinidase deficiency [RCV003061466]	likely pathogenic	3	15645216	15645216	Human	1	name , alternate_id
156247590	CV1890587	single nucleotide variant	NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)	Biotinidase deficiency [RCV003085984]	uncertain significance	3	15645184	15645184	Human	1	name , alternate_id
156386065	CV1893978	single nucleotide variant	NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)	Biotinidase deficiency [RCV003093696]	uncertain significance	3	15645115	15645115	Human	1	name , alternate_id
156162295	CV1925543	single nucleotide variant	NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)	Biotinidase deficiency [RCV002664295]	pathogenic	3	15645172	15645172	Human	1	name , alternate_id
156435690	CV1941389	single nucleotide variant	NM_001370658.1(BTD):c.1102G>A (p.Val368Met)	Biotinidase deficiency [RCV003112070]	uncertain significance	3	15645018	15645018	Human	1	name , alternate_id
10058756	CV200041	single nucleotide variant	NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)	BTD-related disorder [RCV003414156]\|Biotinidase deficiency [RCV003497997]	likely pathogenic\|uncertain significance	3	15645331	15645331	Human	2	name , trait , alternate_id
10058758	CV200042	single nucleotide variant	NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)	Biotinidase deficiency [RCV000409281]\|Inborn genetic diseases [RCV000623390]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15645468	15645468	Human	2	name , alternate_id
156077893	CV2098461	single nucleotide variant	NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)	Biotinidase deficiency [RCV002912602]	uncertain significance	3	15645384	15645384	Human	1	name , alternate_id
155950219	CV2109756	single nucleotide variant	NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)	Biotinidase deficiency [RCV002905022]	uncertain significance	3	15645292	15645292	Human	1	name , alternate_id
156026210	CV2116486	single nucleotide variant	NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)	Biotinidase deficiency [RCV002923301]\|Inborn genetic diseases [RCV002923302]	uncertain significance	3	15645454	15645454	Human	2	name , alternate_id
156318812	CV2137908	single nucleotide variant	NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)	Biotinidase deficiency [RCV002963062]\|Inborn genetic diseases [RCV002963063]	likely benign\|uncertain significance	3	15645262	15645262	Human	2	name , alternate_id
156331343	CV2171821	single nucleotide variant	NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)	Biotinidase deficiency [RCV003029786]	uncertain significance	3	15645093	15645093	Human	1	name , alternate_id
156254426	CV2209642	single nucleotide variant	NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)	Biotinidase deficiency [RCV003600444]\|Inborn genetic diseases [RCV002702643]\|not provided [RCV004695391]	uncertain significance	3	15644917	15644917	Human	2	name , alternate_id
156383394	CV2223908	single nucleotide variant	NM_001370658.1(BTD):c.1565G>T (p.Arg522Met)	Inborn genetic diseases [RCV002722982]	uncertain significance	3	15645481	15645481	Human	1	name
156164081	CV2323650	single nucleotide variant	NM_001370658.1(BTD):c.1499T>G (p.Phe500Cys)	Inborn genetic diseases [RCV002929458]	uncertain significance	3	15645415	15645415	Human	1	name
243058881	CV2409561	single nucleotide variant	NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)	Biotinidase deficiency [RCV003143833]	uncertain significance	3	15645375	15645375	Human	1	name , alternate_id
329952853	CV2669613	single nucleotide variant	NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)	Biotinidase deficiency [RCV003233062]	likely pathogenic	3	15645268	15645268	Human	1	name , alternate_id
11637905	CV273348	single nucleotide variant	NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)	Biotinidase deficiency [RCV001036979]\|not provided [RCV000293118]	uncertain significance	3	15645180	15645180	Human	1	name , alternate_id
401858559	CV2791700	single nucleotide variant	NM_001370658.1(BTD):c.1454C>T (p.Thr485Ile)	Inborn genetic diseases [RCV003370294]	uncertain significance	3	15645370	15645370	Human	1	name
401949642	CV2838766	single nucleotide variant	NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)	Biotinidase deficiency [RCV003474464]	pathogenic\|likely pathogenic	3	15645322	15645322	Human	1	name , alternate_id
11644924	CV289230	single nucleotide variant	NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)	Biotinidase deficiency [RCV000262752]\|not provided [RCV000437667]	uncertain significance	3	15644959	15644959	Human	1	name , alternate_id
11655370	CV289238	single nucleotide variant	NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)	Biotinidase deficiency [RCV000325459]	uncertain significance	3	15645343	15645343	Human	1	name , alternate_id
402480599	CV2894487	single nucleotide variant	NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)	Biotinidase deficiency [RCV003499929]\|not specified [RCV004526995]	pathogenic\|uncertain significance	3	15645053	15645053	Human	1	name , alternate_id
11634617	CV290037	single nucleotide variant	NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)	Biotinidase deficiency [RCV000264378]	uncertain significance	3	15645141	15645141	Human	1	name , alternate_id
402479992	CV2903545	single nucleotide variant	NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)	Biotinidase deficiency [RCV003497656]\|not specified [RCV005407193]	likely pathogenic\|uncertain significance	3	15645168	15645168	Human	1	name , alternate_id
11635046	CV293092	single nucleotide variant	NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)	Biotinidase deficiency [RCV000299326]	uncertain significance	3	15645028	15645028	Human	1	name , alternate_id
11659502	CV293101	single nucleotide variant	NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)	Biotinidase deficiency [RCV000358739]	uncertain significance	3	15645030	15645030	Human	1	name , alternate_id
405079465	CV3137105	single nucleotide variant	NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)	Biotinidase deficiency [RCV003834004]	uncertain significance	3	15645438	15645438	Human	1	name , alternate_id
405710855	CV3298618	single nucleotide variant	NM_001370658.1(BTD):c.1181A>C (p.Tyr394Ser)	Inborn genetic diseases [RCV004426788]	uncertain significance	3	15645097	15645097	Human	1	name
405710861	CV3298619	single nucleotide variant	NM_001370658.1(BTD):c.1358A>G (p.Gln453Arg)	Inborn genetic diseases [RCV004426789]	uncertain significance	3	15645274	15645274	Human	1	name
407574085	CV3498434	single nucleotide variant	NM_001370658.1(BTD):c.1466C>T (p.Pro489Leu)	not specified [RCV004702909]	uncertain significance	3	15645382	15645382	Human		name
596924354	CV3530634	single nucleotide variant	NM_001370658.1(BTD):c.1457T>C (p.Leu486Pro)	not provided [RCV004778219]	uncertain significance	3	15645373	15645373	Human		name
596924491	CV3534331	single nucleotide variant	NM_001370658.1(BTD):c.1280A>G (p.His427Arg)	Biotinidase deficiency [RCV004783550]	likely pathogenic	3	15645196	15645196	Human	1	name , alternate_id
12739680	CV357298	single nucleotide variant	NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)	Biotinidase deficiency [RCV000410177]	likely pathogenic	3	15644985	15644985	Human	1	name , alternate_id
8601669	CV36182	single nucleotide variant	NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter)	Biotinidase deficiency [RCV004575471]	pathogenic	3	15645013	15645013	Human	1	name , alternate_id
8601684	CV36314	single nucleotide variant	NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	Biotinidase deficiency [RCV003475304]\|not provided [RCV002214276]	pathogenic	3	15645127	15645127	Human	1	name , alternate_id
8601665	CV36392	deletion	NM_000060.4(BTD):c.1049delC (p.Ala350Glufs)	Biotinidase deficiency [RCV000021979]	pathogenic	3	15644905	15644905	Human		name
8601667	CV36394	single nucleotide variant	NM_001370658.1(BTD):c.1036T>C (p.Ser346Pro)	Biotinidase deficiency [RCV000021981]	pathogenic	3	15644952	15644952	Human		name , alternate_id
8601668	CV36395	single nucleotide variant	NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)	Biotinidase deficiency [RCV000021982]	pathogenic\|uncertain significance	3	15644962	15644962	Human	1	name , alternate_id
8601690	CV36396	single nucleotide variant	NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	Biotinidase deficiency [RCV000022007]\|not provided [RCV000985644]	pathogenic\|likely pathogenic	3	15645190	15645190	Human	1	name , alternate_id
8601672	CV36398	single nucleotide variant	NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)	Biotinidase deficiency [RCV000021987]\|not provided [RCV000405919]\|not specified [RCV002281714]	pathogenic\|uncertain significance	3	15645061	15645061	Human	1	name , alternate_id
8601674	CV36401	single nucleotide variant	NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	Biotinidase deficiency [RCV000021990]\|not provided [RCV000759002]	pathogenic\|uncertain significance	3	15645067	15645067	Human	1	name , alternate_id
8601675	CV36402	single nucleotide variant	NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)	Biotinidase deficiency [RCV002651648]	pathogenic\|likely pathogenic\|uncertain significance	3	15645070	15645070	Human	1	name , alternate_id
8601676	CV36404	deletion	NM_000060.4(BTD):c.1239delC (p.Tyr414Ilefs)	Biotinidase deficiency [RCV000021993]	pathogenic	3	15645095	15645095	Human		name
8601677	CV36405	single nucleotide variant	NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)	Biotinidase deficiency [RCV000021994]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645108	15645108	Human	1	name , alternate_id
8601678	CV36406	single nucleotide variant	NM_001370658.1(BTD):c.1189G>T (p.Val397Phe)	Biotinidase deficiency [RCV000021995]	pathogenic	3	15645105	15645105	Human		name , alternate_id
8601679	CV36407	single nucleotide variant	NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	Biotinidase deficiency [RCV000021996]	pathogenic\|likely pathogenic	3	15645109	15645109	Human	1	name , alternate_id
8601680	CV36408	duplication	NM_000060.4(BTD):c.1264dupC (p.Leu422Profs)	Biotinidase deficiency [RCV000021997]	pathogenic	3	15645120	15645120	Human		name
8601681	CV36409	single nucleotide variant	NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	Biotinidase deficiency [RCV000021998]\|not provided [RCV002477004]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645123	15645123	Human	1	name , alternate_id
8601682	CV36410	single nucleotide variant	NM_001370658.1(BTD):c.1208G>C (p.Cys403Ser)	Biotinidase deficiency [RCV000021999]	pathogenic	3	15645124	15645124	Human		name , alternate_id
8601683	CV36411	single nucleotide variant	NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)	Biotinidase deficiency [RCV000022000]\|not provided [RCV000493447]	pathogenic\|likely pathogenic	3	15645127	15645127	Human	1	name , alternate_id
8601685	CV36412	single nucleotide variant	NM_001370658.1(BTD):c.1215T>G (p.Tyr405Ter)	Biotinidase deficiency [RCV000022002]	pathogenic	3	15645131	15645131	Human		name , alternate_id
8601686	CV36413	single nucleotide variant	NM_001370658.1(BTD):c.1224C>A (p.Tyr408Ter)	Biotinidase deficiency [RCV000022003]	pathogenic	3	15645140	15645140	Human		name , alternate_id
8601687	CV36414	single nucleotide variant	NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)	Biotinidase deficiency [RCV002651649]	pathogenic\|likely pathogenic	3	15645169	15645169	Human	1	name , alternate_id
8601688	CV36415	single nucleotide variant	NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)	Biotinidase deficiency [RCV000022005]\|not provided [RCV002281043]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	3	15645170	15645170	Human	1	name , alternate_id
8601689	CV36416	single nucleotide variant	NM_001370658.1(BTD):c.1273G>A (p.Gly425Arg)	Biotinidase deficiency [RCV000022006]	pathogenic	3	15645189	15645189	Human		name , alternate_id
8601691	CV36417	single nucleotide variant	NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)	Biotinidase deficiency [RCV000022008]	pathogenic\|likely pathogenic	3	15645195	15645195	Human	1	name , alternate_id
8601692	CV36418	single nucleotide variant	NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)	Biotinidase deficiency [RCV002664296]\|not specified [RCV003324083]	pathogenic\|uncertain significance	3	15645208	15645208	Human	1	name , alternate_id
8601693	CV36419	single nucleotide variant	NM_001370658.1(BTD):c.1309G>A (p.Val437Met)	Biotinidase deficiency [RCV002651650]	pathogenic	3	15645225	15645225	Human	1	name , alternate_id
8601694	CV36420	deletion	NM_000060.4(BTD):c.1384delA (p.Arg462Glyfs)	Biotinidase deficiency [RCV000022011]	pathogenic	3	15645240	15645240	Human		name
8601695	CV36421	single nucleotide variant	NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)	Biotinidase deficiency [RCV000022012]	pathogenic\|uncertain significance	3	15645244	15645244	Human	1	name , alternate_id
8601697	CV36423	single nucleotide variant	NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	Biotinidase deficiency [RCV000022014]\|not provided [RCV000484254]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645288	15645288	Human	1	name , alternate_id
8601698	CV36424	single nucleotide variant	NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	Biotinidase deficiency [RCV000022015]\|Inborn genetic diseases [RCV002513165]\|not provided [RCV002477005]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645311	15645311	Human	2	name , alternate_id
8601699	CV36425	single nucleotide variant	NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg)	Biotinidase deficiency [RCV005089295]\|not provided [RCV000434827]	pathogenic\|uncertain significance	3	15645315	15645315	Human	1	name , alternate_id
8601701	CV36427	single nucleotide variant	NM_001370658.1(BTD):c.1403G>A (p.Gly468Asp)	Biotinidase deficiency [RCV000022018]	pathogenic	3	15645319	15645319	Human		name , alternate_id
8601702	CV36428	single nucleotide variant	NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	Biotinidase deficiency [RCV000022019]\|not provided [RCV000078068]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15645345	15645345	Human	1	name , alternate_id
8601704	CV36430	single nucleotide variant	NM_001370658.1(BTD):c.1451T>A (p.Met484Lys)	Biotinidase deficiency [RCV000022021]	pathogenic	3	15645367	15645367	Human		name , alternate_id
8601705	CV36431	single nucleotide variant	NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)	Biotinidase deficiency [RCV000022022]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645387	15645387	Human	1	name , alternate_id
8601706	CV36432	single nucleotide variant	NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)	Biotinidase deficiency [RCV003499930]	pathogenic\|likely pathogenic	3	15645466	15645466	Human	1	name , alternate_id
8601707	CV36433	single nucleotide variant	NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	Biotinidase deficiency [RCV000022024]\|not provided [RCV004589521]	pathogenic\|likely pathogenic	3	15645469	15645469	Human	1	name , alternate_id
8601709	CV36435	single nucleotide variant	NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)	Biotinidase deficiency [RCV000022026]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645475	15645475	Human	1	name , alternate_id
8601710	CV36436	single nucleotide variant	NM_001370658.1(BTD):c.1567G>C (p.Asp523His)	Biotinidase deficiency [RCV000022027]	pathogenic	3	15645483	15645483	Human		name , alternate_id
8601711	CV36437	single nucleotide variant	NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	Biotinidase deficiency [RCV000022028]\|not provided [RCV000078071]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645485	15645485	Human	1	name , alternate_id
8601717	CV36442	single nucleotide variant	NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	Biotinidase deficiency [RCV000022034]\|Inborn genetic diseases [RCV001266891]\|not provided [RCV003476902]\|not specified [RCV002271373]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645288	15645288	Human	2	name , alternate_id
597699554	CV3647119	single nucleotide variant	NM_001370658.1(BTD):c.1241C>G (p.Ser414Cys)	Inborn genetic diseases [RCV004970205]	uncertain significance	3	15645157	15645157	Human	1	name
597699560	CV3647120	single nucleotide variant	NM_001370658.1(BTD):c.1125C>G (p.His375Gln)	Inborn genetic diseases [RCV004970206]	uncertain significance	3	15645041	15645041	Human	1	name
597699566	CV3647121	single nucleotide variant	NM_001370658.1(BTD):c.1247A>C (p.Glu416Ala)	Inborn genetic diseases [RCV004970207]	uncertain significance	3	15645163	15645163	Human	1	name
597705989	CV3720933	single nucleotide variant	NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr)	Biotinidase deficiency [RCV005031315]	likely pathogenic	3	15645186	15645186	Human	1	name , alternate_id
597850442	CV3817711	single nucleotide variant	NM_001370658.1(BTD):c.1029A>C (p.Lys343Asn)	Biotinidase deficiency [RCV005146897]	uncertain significance	3	15644945	15644945	Human	1	name , alternate_id
598242206	CV3892435	single nucleotide variant	NM_001370658.1(BTD):c.1352G>C (p.Cys451Ser)	Biotinidase deficiency [RCV005254270]	uncertain significance	3	15645268	15645268	Human	1	name , alternate_id
598186630	CV3949806	single nucleotide variant	NM_001370658.1(BTD):c.1268T>G (p.Phe423Cys)	Inborn genetic diseases [RCV005311888]	uncertain significance	3	15645184	15645184	Human	1	name
616935289	CV4013899	single nucleotide variant	NM_001370658.1(BTD):c.1167G>A (p.Trp389Ter)	Biotinidase deficiency [RCV005413391]	likely pathogenic	3	15645083	15645083	Human	1	name , alternate_id
617153468	CV4016934	single nucleotide variant	NM_001370658.1(BTD):c.1215T>A (p.Tyr405Ter)	Biotinidase deficiency [RCV005416057]	pathogenic	3	15645131	15645131	Human	1	name , alternate_id
617153469	CV4016935	single nucleotide variant	NM_001370658.1(BTD):c.1243A>T (p.Lys415Ter)	Biotinidase deficiency [RCV005416058]	likely pathogenic	3	15645159	15645159	Human	1	name , alternate_id
617153981	CV4018095	single nucleotide variant	NM_001370658.1(BTD):c.1361A>G (p.Glu454Gly)	not specified [RCV005417885]	uncertain significance	3	15645277	15645277	Human		name
617153972	CV4018614	single nucleotide variant	NM_001370658.1(BTD):c.1432T>A (p.Leu478Met)	not specified [RCV005418876]	uncertain significance	3	15645348	15645348	Human		name
12894710	CV406135	single nucleotide variant	NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)	Biotinidase deficiency [RCV000675109]\|not provided [RCV000483848]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645162	15645162	Human	1	name , alternate_id
12894641	CV406136	single nucleotide variant	NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)	Biotinidase deficiency [RCV000675116]\|not provided [RCV000483575]	likely pathogenic\|uncertain significance	3	15645249	15645249	Human	1	name , alternate_id
13436981	CV432547	single nucleotide variant	NM_001370658.1(BTD):c.1148T>G (p.Phe383Cys)	not specified [RCV000508096]	uncertain significance	3	15645064	15645064	Human		name
13435773	CV432548	single nucleotide variant	NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)	Biotinidase deficiency [RCV001309054]\|not specified [RCV000505981]	pathogenic\|uncertain significance	3	15645459	15645459	Human	1	name , alternate_id
13436293	CV432549	single nucleotide variant	NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)	Biotinidase deficiency [RCV001315219]\|not specified [RCV000506930]	pathogenic\|uncertain significance	3	15645469	15645469	Human	1	name , alternate_id
13446045	CV438237	single nucleotide variant	NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)	Biotinidase deficiency [RCV002496976]\|not provided [RCV000513201]	uncertain significance	3	15645079	15645079	Human	1	name , alternate_id
13471792	CV452267	single nucleotide variant	NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	BTD-related disorder [RCV004751584]\|Biotinidase deficiency [RCV000524591]\|not provided [RCV001578266]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645217	15645217	Human	2	name , trait , alternate_id
8601670	CV46849	single nucleotide variant	NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	Biotinidase deficiency [RCV000021984]\|not provided [RCV000985643]\|not specified [RCV000434224]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	15645027	15645027	Human	3	name , alternate_id
8601670	CV46849	single nucleotide variant	NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	Biotinidase deficiency [RCV000021984]\|not provided [RCV000985643]\|not specified [RCV000434224]	benign\|likely benign\|conflicting interpretations of pathogenicity	3	15645027	15645028	Human	3	name , alternate_id
8604063	CV47160	single nucleotide variant	NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)	Biotinidase deficiency [RCV000032015]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	15645014	15645014	Human	1	name , alternate_id
8604068	CV47166	single nucleotide variant	NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)	Biotinidase deficiency [RCV000032020]\|not provided [RCV003480039]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645093	15645093	Human	1	name , alternate_id
13789091	CV542887	single nucleotide variant	NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)	Biotinidase deficiency [RCV000665777]	pathogenic\|likely pathogenic	3	15644941	15644941	Human	1	name , alternate_id
13791436	CV542888	single nucleotide variant	NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)	Biotinidase deficiency [RCV000667458]\|not provided [RCV003456422]	pathogenic\|likely pathogenic	3	15644982	15644982	Human	1	name , alternate_id
13792158	CV543043	duplication	NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)	Biotinidase deficiency [RCV000668358]	likely pathogenic	3	15645213	15645214	Human	1	name , alternate_id
13789018	CV543045	single nucleotide variant	NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)	Biotinidase deficiency [RCV000665732]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645225	15645225	Human	1	name , alternate_id
13787645	CV543053	single nucleotide variant	NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)	Biotinidase deficiency [RCV000664962]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645317	15645317	Human	1	name , alternate_id
13783790	CV543054	single nucleotide variant	NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)	Biotinidase deficiency [RCV000670347]\|not specified [RCV004702295]	conflicting interpretations of pathogenicity\|uncertain significance	3	15645337	15645337	Human	1	name , alternate_id
13787473	CV543131	single nucleotide variant	NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)	BTD-related disorder [RCV004751654]\|Biotinidase deficiency [RCV000664856]\|not provided [RCV001355022]	conflicting interpretations of pathogenicity\|uncertain significance	3	15645295	15645295	Human	2	name , trait , alternate_id
13785803	CV543132	single nucleotide variant	NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)	Biotinidase deficiency [RCV000672288]	likely pathogenic	3	15645316	15645316	Human	1	name , alternate_id
13790150	CV543139	single nucleotide variant	NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)	Biotinidase deficiency [RCV000674889]\|not specified [RCV001844220]	conflicting interpretations of pathogenicity\|uncertain significance	3	15645165	15645165	Human	1	name , alternate_id
13785789	CV543146	single nucleotide variant	NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)	Biotinidase deficiency [RCV000672281]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645190	15645190	Human	1	name , alternate_id
13828236	CV578692	single nucleotide variant	NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser)	Biotinidase deficiency [RCV000715010]	likely pathogenic	3	15645184	15645184	Human		name , alternate_id
13828238	CV578697	single nucleotide variant	NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)	Biotinidase deficiency [RCV003474468]	pathogenic\|likely pathogenic	3	15645382	15645382	Human	1	name , alternate_id
13828239	CV578698	single nucleotide variant	NM_001370658.1(BTD):c.1497T>G (p.Tyr499Ter)	Biotinidase deficiency [RCV000715014]	pathogenic	3	15645413	15645413	Human		name , alternate_id
13828240	CV578700	single nucleotide variant	NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)	Biotinidase deficiency [RCV003475551]\|not specified [RCV003230963]	pathogenic\|likely pathogenic\|uncertain significance	3	15645484	15645484	Human	1	name , alternate_id
14393513	CV609502	single nucleotide variant	NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)	Biotinidase deficiency [RCV001065482]\|not provided [RCV000755883]	pathogenic\|likely pathogenic	3	15645303	15645303	Human	1	name , alternate_id
14395314	CV611038	single nucleotide variant	NM_001370658.1(BTD):c.1292G>T (p.Gly431Val)	not provided [RCV000759004]	uncertain significance	3	15645208	15645208	Human		name
14712881	CV650307	single nucleotide variant	NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)	Biotinidase deficiency [RCV000822202]\|not provided [RCV001759616]	uncertain significance	3	15644958	15644958	Human	1	name , alternate_id
14712139	CV650308	single nucleotide variant	NM_001370658.1(BTD):c.1076A>G (p.His359Arg)	Biotinidase deficiency [RCV000819793]	uncertain significance	3	15644992	15644992	Human	1	name , alternate_id
14703600	CV650317	single nucleotide variant	NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)	Biotinidase deficiency [RCV000794472]	uncertain significance	3	15645250	15645250	Human	1	name , alternate_id
15148423	CV758693	single nucleotide variant	NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)	Biotinidase deficiency [RCV000923093]	likely benign	3	15645444	15645444	Human	1	name , alternate_id
21068910	CV788761	single nucleotide variant	NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	Biotinidase deficiency [RCV000985098]	likely pathogenic	3	15645484	15645484	Human	1	name , alternate_id
21071163	CV790353	single nucleotide variant	NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)	Biotinidase deficiency [RCV000987134]	pathogenic	3	15645381	15645381	Human	1	name , alternate_id
21068507	CV795359	single nucleotide variant	NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)	Biotinidase deficiency [RCV003444022]\|not provided [RCV000998009]	likely pathogenic\|uncertain significance	3	15645175	15645175	Human	1	name , alternate_id
38460776	CV959389	single nucleotide variant	NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)	Biotinidase deficiency [RCV001246806]\|Inborn genetic diseases [RCV002568667]	uncertain significance	3	15645412	15645412	Human	2	name , alternate_id
38598462	CV963320	single nucleotide variant	NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)	Biotinidase deficiency [RCV001251432]	pathogenic	3	15644937	15644937	Human	1	name , alternate_id
38598464	CV963321	single nucleotide variant	NM_001370658.1(BTD):c.1541C>T (p.Ala514Val)	Biotinidase deficiency [RCV001251433]	pathogenic	3	15645457	15645457	Human	1	name , alternate_id
41404865	CV981010	single nucleotide variant	NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	Biotinidase deficiency [RCV001871662]\|not provided [RCV001284604]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	15645459	15645459	Human	1	name , alternate_id
8639324	CV98309	single nucleotide variant	NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)	Biotinidase deficiency [RCV002514372]\|Inborn genetic diseases [RCV002514373]\|not provided [RCV000078066]	uncertain significance	3	15645226	15645226	Human	2	name , alternate_id
126757442	CV989335	single nucleotide variant	NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)	Biotinidase deficiency [RCV001308421]	uncertain significance	3	15645372	15645372	Human	1	name , alternate_id
155723860	CV1781687	deletion	NM_001370658.1(BTD):c.177_178del (p.Gln60fs)	Biotinidase deficiency [RCV002306715]	likely pathogenic	3	15635616	15635617	Human	1	name , alternate_id
10042499	CV186677	microsatellite	NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)	Biotinidase deficiency [RCV000169475]\|not provided [RCV000759005]	pathogenic\|likely pathogenic	3	15635571	15635572	Human		name , alternate_id
405869603	CV2832093	deletion	NM_001370658.1(BTD):c.106_107del (p.Glu36fs)	not provided [RCV004573104]	pathogenic	3	15635545	15635546	Human		name
405873651	CV3398697	duplication	NM_001370658.1(BTD):c.143_146dup (p.Ser50fs)	Biotinidase deficiency [RCV004576177]	likely pathogenic	3	15635581	15635582	Human	1	name , alternate_id
405872465	CV3399968	duplication	NM_001370658.1(BTD):c.253_254dup (p.Gln86fs)	Biotinidase deficiency [RCV004575472]	likely pathogenic	3	15641909	15641910	Human	1	name , alternate_id
12739900	CV357297	duplication	NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)	Biotinidase deficiency [RCV000410710]	likely pathogenic	3	15641969	15641970	Human	1	name , alternate_id
13789705	CV542877	deletion	NM_001370658.1(BTD):c.932_941del (p.His311fs)	Biotinidase deficiency [RCV000666133]	pathogenic\|likely pathogenic	3	15644848	15644857	Human	1	name , alternate_id
13790435	CV543108	microsatellite	NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)	Biotinidase deficiency [RCV000675038]	uncertain significance	3	15644473	15644475	Human		name , alternate_id
13782628	CV543138	deletion	NM_001370658.1(BTD):c.941_942del (p.Ile314fs)	Biotinidase deficiency [RCV000669098]	pathogenic\|likely pathogenic	3	15644857	15644858	Human	1	name , alternate_id
13828219	CV578667	microsatellite	NM_001370658.1(BTD):c.263_264dup (p.Val89Ter)	Biotinidase deficiency [RCV000714991]	pathogenic	3	15641918	15641919	Human		name , alternate_id
13828030	CV578672	deletion	NM_001370658.1(BTD):c.430_431del (p.Arg144fs)	Biotinidase deficiency [RCV003991934]	pathogenic\|likely pathogenic	3	15644346	15644347	Human	1	name , alternate_id
151882281	CV1364133	insertion	NM_001370658.1(BTD):c.588_589insA (p.Phe197fs)	Biotinidase deficiency [RCV001999795]	pathogenic	3	15644504	15644505	Human		name , alternate_id
243058880	CV2409560	microsatellite	NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)	Biotinidase deficiency [RCV003143832]	uncertain significance	3	15645025	15645027	Human		name , alternate_id
8601633	CV36361	deletion	NM_000060.4(BTD):c.594_596delCGT (p.Val199del)	Biotinidase deficiency [RCV000021945]	pathogenic	3	15644450	15644452	Human		name
13790110	CV542865	deletion	NM_001370658.1(BTD):c.721_723del (p.Tyr241del)	Biotinidase deficiency [RCV000666357]	uncertain significance	3	15644635	15644637	Human	1	name , alternate_id
13828033	CV578676	deletion	NM_001370658.1(BTD):c.534_536del (p.Val179del)	Biotinidase deficiency [RCV001868341]\|not provided [RCV000985648]	pathogenic\|likely pathogenic	3	15644450	15644452	Human	1	name , alternate_id
402480394	CV2911282	deletion	NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)	Biotinidase deficiency [RCV003498630]	pathogenic	3	15644995	15645010	Human	1	name , alternate_id
402523312	CV2994826	deletion	NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)	Biotinidase deficiency [RCV003602106]	pathogenic	3	15645462	15645463	Human	1	name , alternate_id
12739924	CV357299	duplication	NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)	Biotinidase deficiency [RCV000410764]	likely pathogenic	3	15645024	15645025	Human	1	name , alternate_id
12740214	CV357300	microsatellite	NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)	Biotinidase deficiency [RCV000411441]\|not provided [RCV004999364]	pathogenic\|likely pathogenic	3	15645161	15645162	Human		name , alternate_id
8601624	CV36352	deletion	NM_000060.4(BTD):c.490_491delAG (p.Arg164Glyfs)	Biotinidase deficiency [RCV000021935]	pathogenic	3	15644346	15644347	Human		name
597705979	CV3720930	indel	NM_001370658.1(BTD):c.1134delinsAA (p.Met378fs)	Biotinidase deficiency [RCV005031314]	likely pathogenic	3	15645050	15645050	Human		name , alternate_id
597855194	CV3857875	microsatellite	NM_001370658.1(BTD):c.1220_1224del (p.Leu407fs)	Biotinidase deficiency [RCV005196823]	pathogenic	3	15645131	15645135	Human		name , alternate_id
13782973	CV542892	deletion	NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)	Biotinidase deficiency [RCV000669535]	likely pathogenic	3	15645310	15645329	Human	1	name , alternate_id
13789667	CV543119	deletion	NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)	Biotinidase deficiency [RCV000674623]	pathogenic\|likely pathogenic	3	15645208	15645209	Human	1	name , alternate_id
13828235	CV578688	duplication	NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)	Biotinidase deficiency [RCV003475096]\|not provided [RCV001801035]	pathogenic\|likely pathogenic	3	15644951	15644952	Human	1	name , alternate_id
13828041	CV578689	microsatellite	NM_001370658.1(BTD):c.1131_1132del (p.Glu377fs)	Biotinidase deficiency [RCV000021986]	pathogenic	3	15645047	15645048	Human		name , alternate_id
8639325	CV98310	deletion	NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)	Biotinidase deficiency [RCV000178031]\|not provided [RCV000790753]	pathogenic	3	15645363	15645367	Human	1	name , alternate_id
8595530	CV16934	indel	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	Biotinidase deficiency [RCV000001972]\|not provided [RCV000078084]	pathogenic\|likely pathogenic	3	15635477	15635483	Human		name , alternate_id
597852710	CV3828265	deletion	NM_001370658.1(BTD):c.1214_1216del (p.Tyr405del)	Biotinidase deficiency [RCV005171157]	uncertain significance	3	15645128	15645130	Human	1	name , alternate_id
14707521	CV650309	deletion	NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)	Biotinidase deficiency [RCV000807358]	uncertain significance	3	15645031	15645033	Human	1	name , alternate_id
8601671	CV36397	deletion	NM_000060.4(BTD):c.1191_1192delGA (p.Glu397Aspfs)	Biotinidase deficiency [RCV000021986]	pathogenic	3	15645047	15645048	Human		name
156303824	CV2146615	indel	NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)	Biotinidase deficiency [RCV003028222]	uncertain significance	3	15642009	15642010	Human		name , alternate_id
8567677	CV36403	indel	NM_000060.4(BTD):c.1227_1241delGGGAAAGGAAGGCTAins11	Biotinidase deficiency [RCV000021992]	pathogenic	3	15645083	15645097	Human		name
13828027	CV578666	deletion	NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)	Biotinidase deficiency [RCV001929892]\|not specified [RCV003155434]	pathogenic\|uncertain significance	3	15635625	15635633	Human	1	name , alternate_id
156361132	CV1925542	indel	NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)	Biotinidase deficiency [RCV002651646]	uncertain significance	3	15644666	15644668	Human		name , alternate_id
13787361	CV543042	indel	NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)	Biotinidase deficiency [RCV000673413]	likely pathogenic	3	15644505	15644507	Human		name , alternate_id
151813696	CV1448092	indel	NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)	Biotinidase deficiency [RCV001918868]	uncertain significance	3	15645106	15645107	Human		name , alternate_id
25315116	CV818383	deletion	NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)	Biotinidase deficiency [RCV001030027]	likely pathogenic	3	15644444	15644458	Human	1	name , alternate_id
596945777	CV3548061	insertion	NM_001370658.1(BTD):c.45_46insCCT (p.Cys15_Tyr16insPro)	not provided [RCV004809392]	uncertain significance	3	15635483	15635484	Human		name
8604064	CV47162	deletion	NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	Biotinidase deficiency [RCV000032016]\|not provided [RCV000726739]	pathogenic\|likely pathogenic	3	15645095	15645106	Human	1	name , alternate_id
597701233	CV3731280	duplication	NM_001370658.1(BTD):c.770_772dup (p.Pro257_Leu258insPro)	not provided [RCV004999112]	uncertain significance	3	15644684	15644685	Human		name
156079391	CV2173711	duplication	NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)	Biotinidase deficiency [RCV003053974]	pathogenic	3	15645042	15645043	Human	1	name , alternate_id
8601600	CV36328	deletion	NM_000060.4(BTD):c.246_254delCTTGGAGCT (p.Leu83_Leu85del)	Biotinidase deficiency [RCV000021908]	pathogenic	3	15635625	15635633	Human		name
617153470	CV4016940	microsatellite	NM_001370658.1(BTD):c.1127_1128del (p.His375_Ser376insTer)	Biotinidase deficiency [RCV005416063]	likely pathogenic	3	15645041	15645042	Human		name , alternate_id
10042467	CV186678	indel	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	Biotinidase deficiency [RCV000169138]\|not provided [RCV000728443]	pathogenic\|likely pathogenic	3	15645083	15645097	Human		name , alternate_id
151871588	CV1451330	indel	NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer)	Biotinidase deficiency [RCV001960500]	pathogenic	3	15644393	15644394	Human		name , alternate_id
8601673	CV47161	deletion	NM_000060.3(BTD):c.1239_1250delCTATCTCCACGT (p.Tyr414_Val417del)	Biotinidase deficiency [RCV000021988]	pathogenic	3	15645095	15645106	Human		name
597843945	CV3757588	duplication	NM_001370658.1(BTD):c.1254_1298dup (p.Tyr433_Tyr434insAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyr)	Biotinidase deficiency [RCV005080254]	uncertain significance	3	15645167	15645168	Human	1	name , alternate_id
127250225	CV1057036	deletion	NC_000003.11:g.(?_15683405)_(15687154_?)del	Biotinidase deficiency [RCV001385260]	pathogenic				Human	1	alternate_id
151855851	CV1421656	deletion	NC_000003.11:g.(?_15643358)_(15643421_?)del	Biotinidase deficiency [RCV001937937]	pathogenic				Human	1	alternate_id
151815718	CV1486066	deletion	NC_000003.11:g.(?_15643358)_(15683584_?)del	Biotinidase deficiency [RCV002049289]	pathogenic				Human	1	alternate_id
155265036	CV1695427	single nucleotide variant	NM_152649.4(MLKL):c.565C>T (p.Pro189Ser)	Biotinidase deficiency [RCV002280002]\|not specified [RCV005370187]	likely benign\|uncertain significance	16	74691434	74691434	Human	1	alternate_id
156447685	CV1942313	deletion	NC_000003.11:g.(?_15512023)_(15687154_?)del	Biotinidase deficiency [RCV003119225]	pathogenic				Human	1	alternate_id
156447686	CV1942314	duplication	NC_000003.11:g.(?_15643358)_(15687154_?)dup	Biotinidase deficiency [RCV003119226]	uncertain significance				Human	1	alternate_id
156447687	CV1942315	duplication	NC_000003.11:g.(?_15643358)_(15643421_?)dup	Biotinidase deficiency [RCV003119227]	uncertain significance				Human	1	alternate_id
14705737	CV650322	single nucleotide variant	NM_000060.3:c.1596G>A	Biotinidase deficiency [RCV000801863]	uncertain significance				Human		alternate_id
14703564	CV650323	single nucleotide variant	NM_000060.3:c.*159G>A	Biotinidase deficiency [RCV000794305]	pathogenic\|uncertain significance				Human		alternate_id
15135634	CV694979	single nucleotide variant	NM_000060.3:c.262C>G	Biotinidase deficiency [RCV000876680]	benign				Human		alternate_id
26896536	CV819342	deletion	NC_000003.12:g.(?_15601831)_(15601914_?)del	Biotinidase deficiency [RCV001033806]	pathogenic				Human	1	alternate_id
26893095	CV850367	single nucleotide variant	NM_000060.3:c.1085T>A	Biotinidase deficiency [RCV001047212]	pathogenic				Human		alternate_id
26905403	CV850369	single nucleotide variant	NM_000060.3:c.1324G>A	Biotinidase deficiency [RCV001036979]	uncertain significance				Human		alternate_id
26898630	CV850374	duplication	NM_000060.3:c.1410dup	Biotinidase deficiency [RCV001034744]	pathogenic				Human		alternate_id
26885488	CV850376	single nucleotide variant	NM_000060.3:c.1447G>T	Biotinidase deficiency [RCV001065482]	pathogenic				Human		alternate_id
38483744	CV929854	single nucleotide variant	NM_000060.3:c.583A>G	Biotinidase deficiency [RCV001219088]	pathogenic				Human		alternate_id
38486522	CV929856	single nucleotide variant	NM_000060.3:c.709G>A	Biotinidase deficiency [RCV001220338]	uncertain significance				Human		alternate_id
38480418	CV951921	single nucleotide variant	NM_000060.3:c.1271G>A	Biotinidase deficiency [RCV001234702]	pathogenic				Human		alternate_id
38489650	CV951923	single nucleotide variant	NM_000060.3:c.236G>A	Biotinidase deficiency [RCV001238503]	likely pathogenic				Human		alternate_id
38498671	CV951924	single nucleotide variant	NM_000060.3:c.632G>A	Biotinidase deficiency [RCV001227898]	uncertain significance				Human		alternate_id
38480286	CV951925	single nucleotide variant	NM_000060.3:c.713G>C	Biotinidase deficiency [RCV001234656]	uncertain significance				Human		alternate_id
38470014	CV959387	indel	NM_000060.3:c.1227_1241delinsTTCCAATGGCC	Biotinidase deficiency [RCV001248268]	pathogenic				Human		alternate_id
38498316	CV959393	single nucleotide variant	NM_000060.3:c.631C>T	Biotinidase deficiency [RCV001243742]	pathogenic				Human		alternate_id
38473763	CV961365	single nucleotide variant	NM_000060.2:c.1330G>C	Biotinidase deficiency [RCV001249226]	not provided				Human		alternate_id
38473761	CV961366	single nucleotide variant	NM_000060.2:c.511G>A	Biotinidase deficiency [RCV001249225]	not provided				Human		alternate_id

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message