Bdp1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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488 records found for search term Bdp1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150532702	CV1308071	single nucleotide variant	NM_018429.3(BDP1):c.-80A>T	not provided [RCV001753061]	likely benign	5	71455798	71455798	Human		name
151662789	CV1333458	single nucleotide variant	NM_018429.3(BDP1):c.*20C>T	not provided [RCV001837650]	likely benign	5	71564905	71564905	Human		name
153301239	CV1689087	single nucleotide variant	NM_018429.3(BDP1):c.*1107T>C	Hearing loss, autosomal recessive 112 [RCV002266815]	uncertain significance	5	71565992	71565992	Human	1	name
14745364	CV661406	single nucleotide variant	NM_018429.3(BDP1):c.599+8A>G	not provided [RCV000843318]	likely benign	5	71461934	71461934	Human		name
126910589	CV1053235	single nucleotide variant	NM_018429.3(BDP1):c.7744-1G>A	Hearing impairment [RCV001375250]	uncertain significance	5	71564753	71564753	Human	2	name
150506198	CV1213719	deletion	NM_018429.3(BDP1):c.2373-5del	not provided [RCV001595975]	benign	5	71509451	71509451	Human		name
150514707	CV1228605	duplication	NM_018429.3(BDP1):c.1641-3dup	not provided [RCV001638593]	benign	5	71495239	71495240	Human		name
150486716	CV1234640	deletion	NM_018429.3(BDP1):c.599+53del	not provided [RCV001654063]	benign	5	71461959	71461959	Human		name
150456892	CV1235268	single nucleotide variant	NM_018429.3(BDP1):c.786-93A>G	not provided [RCV001648684]	benign	5	71467261	71467261	Human		name
150480963	CV1239687	duplication	NM_018429.3(BDP1):c.599+53dup	not provided [RCV001652850]	benign	5	71461958	71461959	Human		name
150507772	CV1244650	deletion	NM_018429.3(BDP1):c.6023-7del	not provided [RCV001658899]	benign	5	71541434	71541434	Human		name
150473105	CV1262846	duplication	NM_018429.3(BDP1):c.6023-7dup	not provided [RCV001684662]	benign	5	71541433	71541434	Human		name
150436888	CV1286448	single nucleotide variant	NM_018429.3(BDP1):c.659+47A>C	not provided [RCV001724526]	benign	5	71464164	71464164	Human		name
150542607	CV1307830	single nucleotide variant	NM_018429.3(BDP1):c.920-27A>G	not provided [RCV001769605]	likely benign	5	71470368	71470368	Human		name
150536176	CV1309173	single nucleotide variant	NM_018429.3(BDP1):c.6808+6A>G	not provided [RCV001759380]	likely benign	5	71548751	71548751	Human		name
153301238	CV1689086	single nucleotide variant	NM_018429.3(BDP1):c.6809-2A>G	Hearing loss, autosomal recessive 112 [RCV002266814]	uncertain significance	5	71549418	71549418	Human	1	name
10449674	CV215321	single nucleotide variant	NM_018429.3(BDP1):c.6023-6C>T	not specified [RCV000202724]	likely benign	5	71541448	71541448	Human		name
405283110	CV3191246	single nucleotide variant	NM_018429.3(BDP1):c.6413-4T>C	BDP1-related disorder [RCV003921651]	likely benign	5	71544353	71544353	Human		name , trait , alternate_id
14739127	CV661303	single nucleotide variant	NM_018429.3(BDP1):c.1957-4A>G	not provided [RCV000839728]	likely benign	5	71501558	71501558	Human		name
150339986	CV1168054	single nucleotide variant	NM_018429.3(BDP1):c.786-292C>G	not provided [RCV001534831]	benign	5	71467062	71467062	Human		name
150335311	CV1171440	single nucleotide variant	NM_018429.3(BDP1):c.786-229T>C	not provided [RCV001540499]	benign	5	71467125	71467125	Human		name
150330756	CV1171442	single nucleotide variant	NM_018429.3(BDP1):c.2373-23T>C	not provided [RCV001538260]	benign	5	71509442	71509442	Human		name
150337156	CV1171444	single nucleotide variant	NM_018429.3(BDP1):c.5929+48T>A	not provided [RCV001541453]	benign	5	71539126	71539126	Human		name
150334301	CV1171446	single nucleotide variant	NM_018429.3(BDP1):c.6745-11T>C	not provided [RCV001539962]	benign	5	71548671	71548671	Human		name
150335069	CV1171447	deletion	NM_018429.3(BDP1):c.6996-54del	not provided [RCV001540386]	benign	5	71553053	71553053	Human		name
150407624	CV1182372	single nucleotide variant	NM_018429.3(BDP1):c.5893-36G>A	Hearing loss, autosomal recessive 112 [RCV001554062]\|not provided [RCV001676056]	benign	5	71539006	71539006	Human	1	name
150473248	CV1217597	duplication	NM_018429.3(BDP1):c.4248-97dup	not provided [RCV001615608]	benign	5	71513063	71513064	Human		name
150478360	CV1218773	single nucleotide variant	NM_018429.3(BDP1):c.6563+99A>G	not provided [RCV001616400]	benign	5	71544606	71544606	Human		name
150516943	CV1227382	single nucleotide variant	NM_018429.3(BDP1):c.600-128C>T	not provided [RCV001639483]	benign	5	71463930	71463930	Human		name
150430036	CV1231912	single nucleotide variant	NM_018429.3(BDP1):c.5193+30T>G	not provided [RCV001641173]	benign	5	71522520	71522520	Human		name
150451323	CV1232785	single nucleotide variant	NM_018429.3(BDP1):c.785+143A>G	not provided [RCV001647860]	benign	5	71466364	71466364	Human		name
150498860	CV1235637	deletion	NM_018429.3(BDP1):c.2048+40del	not provided [RCV001656320]	benign	5	71501674	71501674	Human		name
150499636	CV1235762	single nucleotide variant	NM_018429.3(BDP1):c.1799+30A>G	not provided [RCV001656445]	benign	5	71495438	71495438	Human		name
150490939	CV1239198	single nucleotide variant	NM_018429.3(BDP1):c.786-246G>A	not provided [RCV001654766]	benign	5	71467108	71467108	Human		name
150479360	CV1239371	duplication	NM_018429.3(BDP1):c.2048+40dup	not provided [RCV001652534]	benign	5	71501673	71501674	Human		name
150464868	CV1241392	single nucleotide variant	NM_018429.3(BDP1):c.213-244G>C	not provided [RCV001649903]	benign	5	71458335	71458335	Human		name
150470544	CV1248014	single nucleotide variant	NM_018429.3(BDP1):c.2373-15C>T	Hearing loss, autosomal recessive 112 [RCV002502013]\|not provided [RCV001671050]	benign\|likely benign	5	71509450	71509450	Human	1	name
150468980	CV1249019	single nucleotide variant	NM_018429.3(BDP1):c.2241+32G>T	not provided [RCV001670780]	benign	5	71502823	71502823	Human		name
150488803	CV1250439	single nucleotide variant	NM_018429.3(BDP1):c.919+147C>T	not provided [RCV001674399]	benign	5	71467634	71467634	Human		name
150490455	CV1251032	single nucleotide variant	NM_018429.3(BDP1):c.786-122G>A	not provided [RCV001674699]	benign	5	71467232	71467232	Human		name
150478012	CV1252106	single nucleotide variant	NM_018429.3(BDP1):c.1493-96T>G	not provided [RCV001672306]	benign	5	71490888	71490888	Human		name
150451867	CV1254883	single nucleotide variant	NM_018429.3(BDP1):c.2048+19G>C	not provided [RCV001667942]	benign	5	71501672	71501672	Human		name
150466421	CV1255736	deletion	NM_018429.3(BDP1):c.2373-15del	not provided [RCV001670370]	benign	5	71509446	71509446	Human		name
150468436	CV1259497	deletion	NM_018429.3(BDP1):c.4470+50del	not provided [RCV001683797]	benign	5	71513443	71513443	Human		name
150455951	CV1259942	duplication	NM_018429.3(BDP1):c.600-212del	not provided [RCV001681421]	benign	5	71463830	71463830	Human		name
150445553	CV1261218	deletion	NM_018429.3(BDP1):c.4059+44del	not provided [RCV001679892]	benign	5	71511190	71511190	Human		name
150454223	CV1265968	duplication	NM_018429.3(BDP1):c.5193+28dup	not provided [RCV001692545]	benign	5	71522502	71522503	Human		name
150443231	CV1266365	single nucleotide variant	NM_018429.3(BDP1):c.4247+30T>C	not provided [RCV001690801]	benign	5	71512458	71512458	Human		name
150493915	CV1267246	deletion	NM_018429.3(BDP1):c.4248-97del	not provided [RCV001688274]	benign	5	71513064	71513064	Human		name
150469407	CV1268092	single nucleotide variant	NM_018429.3(BDP1):c.4059+95C>T	not provided [RCV001694955]	benign	5	71511246	71511246	Human		name
150445393	CV1269427	single nucleotide variant	NM_018429.3(BDP1):c.7744-88T>C	not provided [RCV001691115]	benign	5	71564666	71564666	Human		name
150447734	CV1270354	single nucleotide variant	NM_018429.3(BDP1):c.7497-12T>C	not provided [RCV001691491]	benign	5	71562262	71562262	Human		name
150436310	CV1270940	single nucleotide variant	NM_018429.3(BDP1):c.4650-67A>G	not provided [RCV001689490]	benign	5	71515994	71515994	Human		name
150495595	CV1272671	single nucleotide variant	NM_018429.3(BDP1):c.5929+21T>C	not provided [RCV001688594]	benign	5	71539099	71539099	Human		name
150482826	CV1280069	single nucleotide variant	NM_018429.3(BDP1):c.1641-67T>A	not provided [RCV001715085]	benign	5	71495183	71495183	Human		name
150436910	CV1286453	single nucleotide variant	NM_018429.3(BDP1):c.2373-22G>T	not provided [RCV001724531]	benign	5	71509443	71509443	Human		name
150535901	CV1306318	single nucleotide variant	NM_018429.3(BDP1):c.1492+21A>G	not provided [RCV001759246]	likely benign	5	71489703	71489703	Human		name
150541615	CV1306473	deletion	NM_018429.3(BDP1):c.5193+28del	not provided [RCV001768095]	likely benign	5	71522503	71522503	Human		name
150542813	CV1306618	single nucleotide variant	NM_018429.3(BDP1):c.1640+33A>C	not provided [RCV001769682]	likely benign	5	71491164	71491164	Human		name
150543003	CV1306682	duplication	NM_018429.3(BDP1):c.4470+50dup	not provided [RCV001769746]	likely benign	5	71513442	71513443	Human		name
150543037	CV1306693	single nucleotide variant	NM_018429.3(BDP1):c.5893-14T>G	not provided [RCV001769757]	likely benign	5	71539028	71539028	Human		name
150542317	CV1307724	single nucleotide variant	NM_018429.3(BDP1):c.6744+52A>T	not provided [RCV001769499]	likely benign	5	71545271	71545271	Human		name
150534676	CV1307907	single nucleotide variant	NM_018429.3(BDP1):c.4471-76T>C	not provided [RCV001757629]	likely benign	5	71514868	71514868	Human		name
150534745	CV1307931	single nucleotide variant	NM_018429.3(BDP1):c.920-265C>G	not provided [RCV001757653]	likely benign	5	71470130	71470130	Human		name
150532622	CV1308012	single nucleotide variant	NM_018429.3(BDP1):c.5929+11T>C	not provided [RCV001753002]	likely benign	5	71539089	71539089	Human		name
150532958	CV1308217	single nucleotide variant	NM_018429.3(BDP1):c.5772+62T>C	not provided [RCV001753208]	likely benign	5	71524385	71524385	Human		name
150539257	CV1308554	single nucleotide variant	NM_018429.3(BDP1):c.4060-10G>A	not provided [RCV001766058]	likely benign	5	71512231	71512231	Human		name
150539278	CV1308595	single nucleotide variant	NM_018429.3(BDP1):c.786-270T>C	not provided [RCV001766099]	likely benign	5	71467084	71467084	Human		name
150539399	CV1308760	single nucleotide variant	NM_018429.3(BDP1):c.4650-76A>G	not provided [RCV001766264]	likely benign	5	71515985	71515985	Human		name
150539400	CV1308761	single nucleotide variant	NM_018429.3(BDP1):c.1069+24A>G	not provided [RCV001766265]	likely benign	5	71483920	71483920	Human		name
150539401	CV1308762	single nucleotide variant	NM_018429.3(BDP1):c.4650-80A>G	not provided [RCV001766266]	likely benign	5	71515981	71515981	Human		name
150543562	CV1309034	duplication	NM_018429.3(BDP1):c.1957-34dup	not provided [RCV001769947]	likely benign	5	71501527	71501528	Human		name
150535939	CV1309064	single nucleotide variant	NM_018429.3(BDP1):c.4247+52G>A	not provided [RCV001759271]	likely benign	5	71512480	71512480	Human		name
150532533	CV1309260	single nucleotide variant	NM_018429.3(BDP1):c.786-279C>G	not provided [RCV001752941]	likely benign	5	71467075	71467075	Human		name
153001185	CV1684072	single nucleotide variant	NM_018429.3(BDP1):c.4470+19G>A	not provided [RCV002254999]	likely benign	5	71513426	71513426	Human		name
14745524	CV660931	single nucleotide variant	NM_018429.3(BDP1):c.7496+80T>C	not provided [RCV000843465]	likely benign	5	71560317	71560317	Human		name
14745521	CV661231	deletion	NM_018429.3(BDP1):c.1640+66del	not provided [RCV000843462]	likely benign	5	71491197	71491197	Human		name
14745523	CV661240	single nucleotide variant	NM_018429.3(BDP1):c.7240+22A>C	not provided [RCV000843464]	likely benign	5	71556947	71556947	Human		name
14745416	CV661294	single nucleotide variant	NM_018429.3(BDP1):c.1956+60G>A	not provided [RCV000843348]	likely benign	5	71497486	71497486	Human		name
14744669	CV661409	single nucleotide variant	NM_018429.3(BDP1):c.1015-58A>T	not provided [RCV000842901]	likely benign	5	71483784	71483784	Human		name
14744667	CV661412	single nucleotide variant	NM_018429.3(BDP1):c.4060-77G>A	Hearing loss, autosomal recessive 112 [RCV001554060]\|not provided [RCV000842900]	benign	5	71512164	71512164	Human	1	name
8647179	CV107297	single nucleotide variant	NM_018429.2(BDP1):c.1956+724C>T	Lung cancer [RCV000087782]	uncertain significance	5	71498150	71498150	Human		name
150331285	CV1163465	single nucleotide variant	NM_018429.3(BDP1):c.7240+270A>G	not provided [RCV001527741]	benign	5	71557195	71557195	Human		name
150334669	CV1171441	single nucleotide variant	NM_018429.3(BDP1):c.2049-144C>T	not provided [RCV001540174]	benign	5	71502455	71502455	Human		name
150334308	CV1171448	single nucleotide variant	NM_018429.3(BDP1):c.7200+161T>C	not provided [RCV001539967]	benign	5	71553481	71553481	Human		name
150337417	CV1171449	single nucleotide variant	NM_018429.3(BDP1):c.7497-238A>G	not provided [RCV001541633]	benign	5	71562036	71562036	Human		name
150513057	CV1213090	single nucleotide variant	NM_018429.3(BDP1):c.5893-166A>C	not provided [RCV001598323]	benign	5	71538876	71538876	Human		name
150434316	CV1215859	single nucleotide variant	NM_018429.3(BDP1):c.5387+101A>G	not provided [RCV001609047]	benign	5	71523050	71523050	Human		name
150435269	CV1221602	single nucleotide variant	NM_018429.3(BDP1):c.7200+250A>G	not provided [RCV001609290]	benign	5	71553570	71553570	Human		name
150435744	CV1221730	single nucleotide variant	NM_018429.3(BDP1):c.6996-300G>C	not provided [RCV001609419]	benign	5	71552816	71552816	Human		name
150484875	CV1222587	single nucleotide variant	NM_018429.3(BDP1):c.2049-178G>A	not provided [RCV001617590]	benign	5	71502421	71502421	Human		name
150516498	CV1227094	single nucleotide variant	NM_018429.3(BDP1):c.7201-102G>A	not provided [RCV001639192]	benign	5	71556784	71556784	Human		name
150516743	CV1227218	single nucleotide variant	NM_018429.3(BDP1):c.4992-216A>G	not provided [RCV001639316]	benign	5	71522073	71522073	Human		name
150509181	CV1229825	single nucleotide variant	NM_018429.3(BDP1):c.2241+288A>T	not provided [RCV001636405]	benign	5	71503079	71503079	Human		name
150497648	CV1236395	single nucleotide variant	NM_018429.3(BDP1):c.1213+224C>G	not provided [RCV001656120]	benign	5	71486851	71486851	Human		name
150480135	CV1239514	single nucleotide variant	NM_018429.3(BDP1):c.6996-260T>C	not provided [RCV001652677]	benign	5	71552856	71552856	Human		name
150483236	CV1245077	single nucleotide variant	NM_018429.3(BDP1):c.2049-285G>A	not provided [RCV001653254]	benign	5	71502314	71502314	Human		name
150440190	CV1247824	single nucleotide variant	NM_018429.3(BDP1):c.1641-218G>A	not provided [RCV001666191]	benign	5	71495032	71495032	Human		name
150477928	CV1252091	single nucleotide variant	NM_018429.3(BDP1):c.2242-169A>T	not provided [RCV001672291]	benign	5	71504452	71504452	Human		name
150505640	CV1255524	single nucleotide variant	NM_018429.3(BDP1):c.6412+300C>T	not provided [RCV001677971]	benign	5	71542565	71542565	Human		name
150467419	CV1255903	single nucleotide variant	NM_018429.3(BDP1):c.5929+187G>A	not provided [RCV001670537]	benign	5	71539265	71539265	Human		name
150501495	CV1256314	deletion	NM_018429.3(BDP1):c.5772+330del	not provided [RCV001676938]	benign	5	71524645	71524645	Human		name
150494069	CV1257685	single nucleotide variant	NM_018429.3(BDP1):c.7497-179G>C	not provided [RCV001675358]	benign	5	71562095	71562095	Human		name
150471060	CV1258730	single nucleotide variant	NM_018429.3(BDP1):c.2241+273C>G	not provided [RCV001684276]	benign	5	71503064	71503064	Human		name
150451360	CV1260248	single nucleotide variant	NM_018429.3(BDP1):c.7240+310T>A	not provided [RCV001680738]	benign	5	71557235	71557235	Human		name
150493783	CV1267218	duplication	NM_018429.3(BDP1):c.5772+270dup	not provided [RCV001688246]	benign	5	71524592	71524593	Human		name
150499114	CV1270767	single nucleotide variant	NM_018429.3(BDP1):c.7496+314A>C	not provided [RCV001689316]	benign	5	71560551	71560551	Human		name
150484547	CV1273797	single nucleotide variant	NM_018429.3(BDP1):c.6996-237C>T	not provided [RCV001698521]	benign	5	71552879	71552879	Human		name
150462783	CV1276129	single nucleotide variant	NM_018429.3(BDP1):c.6413-188G>C	not provided [RCV001710074]	benign	5	71544169	71544169	Human		name
150453606	CV1276870	single nucleotide variant	NM_018429.3(BDP1):c.2373-112T>C	not provided [RCV001708660]	benign	5	71509353	71509353	Human		name
150466480	CV1277412	single nucleotide variant	NM_018429.3(BDP1):c.5773-160G>A	not provided [RCV001710707]	benign	5	71532148	71532148	Human		name
150476059	CV1279180	single nucleotide variant	NM_018429.3(BDP1):c.6996-161G>A	not provided [RCV001713929]	benign	5	71552955	71552955	Human		name
150482521	CV1280001	single nucleotide variant	NM_018429.3(BDP1):c.6564-259C>T	not provided [RCV001715036]	benign	5	71544780	71544780	Human		name
150539057	CV1295019	single nucleotide variant	NM_018429.3(BDP1):c.7743+261T>C	not provided [RCV001764980]	benign	5	71562781	71562781	Human		name
150533905	CV1306029	single nucleotide variant	NM_018429.3(BDP1):c.7496+309T>C	not provided [RCV001755432]	likely benign	5	71560546	71560546	Human		name
150541426	CV1306345	duplication	NM_018429.3(BDP1):c.6996-186dup	not provided [RCV001767967]	likely benign	5	71552928	71552929	Human		name
150541580	CV1306456	single nucleotide variant	NM_018429.3(BDP1):c.1014+255C>T	not provided [RCV001768078]	likely benign	5	71470744	71470744	Human		name
150541606	CV1306467	single nucleotide variant	NM_018429.3(BDP1):c.1492+314A>G	not provided [RCV001768089]	likely benign	5	71489996	71489996	Human		name
150541838	CV1306575	single nucleotide variant	NM_018429.3(BDP1):c.7200+293A>G	not provided [RCV001768198]	likely benign	5	71553613	71553613	Human		name
150543018	CV1306686	single nucleotide variant	NM_018429.3(BDP1):c.7240+294G>A	not provided [RCV001769750]	likely benign	5	71557219	71557219	Human		name
150545152	CV1307644	deletion	NM_018429.3(BDP1):c.1492+179del	not provided [RCV001774922]	likely benign	5	71489855	71489855	Human		name
150542373	CV1307748	single nucleotide variant	NM_018429.3(BDP1):c.6564-135A>G	not provided [RCV001769523]	likely benign	5	71544904	71544904	Human		name
150542376	CV1307749	single nucleotide variant	NM_018429.3(BDP1):c.2241+273C>A	not provided [RCV001769524]	likely benign	5	71503064	71503064	Human		name
150542623	CV1307837	single nucleotide variant	NM_018429.3(BDP1):c.7200+271A>G	not provided [RCV001769612]	likely benign	5	71553591	71553591	Human		name
150534673	CV1307906	deletion	NM_018429.3(BDP1):c.2241+291del	not provided [RCV001757628]	likely benign	5	71503065	71503065	Human		name
150534737	CV1307929	single nucleotide variant	NM_018429.3(BDP1):c.4861-273A>G	not provided [RCV001757651]	likely benign	5	71517049	71517049	Human		name
150534759	CV1307936	single nucleotide variant	NM_018429.3(BDP1):c.7240+306C>T	not provided [RCV001757658]	likely benign	5	71557231	71557231	Human		name
150534818	CV1307957	single nucleotide variant	NM_018429.3(BDP1):c.1014+123A>G	not provided [RCV001757679]	likely benign	5	71470612	71470612	Human		name
150534902	CV1307991	single nucleotide variant	NM_018429.3(BDP1):c.5893-237A>T	not provided [RCV001757713]	likely benign	5	71538805	71538805	Human		name
150532669	CV1308047	single nucleotide variant	NM_018429.3(BDP1):c.7497-193A>G	not provided [RCV001753037]	likely benign	5	71562081	71562081	Human		name
150532796	CV1308126	single nucleotide variant	NM_018429.3(BDP1):c.5773-150G>T	not provided [RCV001753116]	likely benign	5	71532158	71532158	Human		name
150532814	CV1308140	single nucleotide variant	NM_018429.3(BDP1):c.1492+142G>A	not provided [RCV001753130]	likely benign	5	71489824	71489824	Human		name
150539253	CV1308549	single nucleotide variant	NM_018429.3(BDP1):c.4059+142A>G	not provided [RCV001766053]	likely benign	5	71511293	71511293	Human		name
150539254	CV1308550	single nucleotide variant	NM_018429.3(BDP1):c.6022+159A>G	not provided [RCV001766054]	likely benign	5	71539808	71539808	Human		name
150539267	CV1308576	single nucleotide variant	NM_018429.3(BDP1):c.6808+123G>A	not provided [RCV001766080]	likely benign	5	71548868	71548868	Human		name
150539277	CV1308594	single nucleotide variant	NM_018429.3(BDP1):c.1957-133C>T	not provided [RCV001766098]	likely benign	5	71501429	71501429	Human		name
150543485	CV1308993	single nucleotide variant	NM_018429.3(BDP1):c.4060-184T>G	not provided [RCV001769906]	likely benign	5	71512057	71512057	Human		name
150536101	CV1309129	single nucleotide variant	NM_018429.3(BDP1):c.1014+113T>C	not provided [RCV001759336]	likely benign	5	71470602	71470602	Human		name
150532544	CV1309268	duplication	NM_018429.3(BDP1):c.2241+291dup	not provided [RCV001752949]	likely benign	5	71503064	71503065	Human		name
150531331	CV1310813	single nucleotide variant	NM_018429.3(BDP1):c.7743+298C>G	not provided [RCV001776547]	likely benign	5	71562818	71562818	Human		name
151232515	CV1316818	duplication	NM_018429.3(BDP1):c.6564-214dup	not provided [RCV001786638]	likely benign	5	71544824	71544825	Human		name
150491471	CV1267780	microsatellite	NM_018429.3(BDP1):c.5892+164TTTG[2]	not provided [RCV001687805]	benign	5	71532591	71532594	Human		name
150336637	CV1171439	deletion	NM_018429.3(BDP1):c.599+52_599+53del	not provided [RCV001541083]	benign	5	71461959	71461960	Human		name
150500727	CV1283800	duplication	NM_018429.3(BDP1):c.599+52_599+53dup	not provided [RCV001718453]	benign	5	71461958	71461959	Human		name
150541760	CV1306538	deletion	NM_018429.3(BDP1):c.599+51_599+53del	not provided [RCV001768161]	likely benign	5	71461959	71461961	Human		name
150543580	CV1309043	duplication	NM_018429.3(BDP1):c.599+51_599+53dup	not provided [RCV001769956]	likely benign	5	71461958	71461959	Human		name
153348872	CV1692917	duplication	NM_018429.3(BDP1):c.599+49_599+53dup	not provided [RCV002274773]	likely benign	5	71461958	71461959	Human		name
150532883	CV1308172	microsatellite	NM_018429.3(BDP1):c.6996-281GGGAGA[2]	not provided [RCV001753163]	likely benign	5	71552835	71552840	Human		name
150550452	CV1308187	single nucleotide variant	NM_018429.3(BDP1):c.165A>G (p.Thr55=)	not provided [RCV001753178]	likely benign	5	71456042	71456042	Human		name
598276689	CV3938776	single nucleotide variant	NM_018429.3(BDP1):c.25G>T (p.Val9Leu)	not specified [RCV005305823]	uncertain significance	5	71455902	71455902	Human		name
150500655	CV1213199	microsatellite	NM_018429.3(BDP1):c.1070-94_1070-91del	not provided [RCV001594611]	benign	5	71486386	71486389	Human		name
150516160	CV1216461	single nucleotide variant	NM_018429.3(BDP1):c.77A>G (p.Asn26Ser)	not provided [RCV001608652]	benign	5	71455954	71455954	Human		name
150461841	CV1231527	deletion	NM_018429.3(BDP1):c.600-213_600-212del	not provided [RCV001641094]	benign	5	71463830	71463831	Human		name
150443805	CV1249328	deletion	NM_018429.3(BDP1):c.4248-98_4248-97del	not provided [RCV001666760]	benign	5	71513064	71513065	Human		name
150485028	CV1273909	deletion	NM_018429.3(BDP1):c.2048+38_2048+40del	not provided [RCV001698627]	benign	5	71501674	71501676	Human		name
150493199	CV1281741	deletion	NM_018429.3(BDP1):c.2048+39_2048+40del	not provided [RCV001716958]	benign	5	71501674	71501675	Human		name
150534530	CV1306277	duplication	NM_018429.3(BDP1):c.2048+39_2048+40dup	not provided [RCV001757466]	likely benign	5	71501673	71501674	Human		name
150542652	CV1307845	microsatellite	NM_018429.3(BDP1):c.5772+282TTTTTTA[2]	not provided [RCV001769620]	likely benign	5	71524605	71524611	Human		name
150534603	CV1307878	deletion	NM_018429.3(BDP1):c.786-297_786-296del	not provided [RCV001757600]	likely benign	5	71467057	71467058	Human		name
150550414	CV1308100	single nucleotide variant	NM_018429.3(BDP1):c.390C>T (p.Ala130=)	not provided [RCV001753090]	likely benign	5	71458756	71458756	Human		name
150535932	CV1309061	deletion	NM_018429.3(BDP1):c.4248-99_4248-97del	not provided [RCV001759268]	likely benign	5	71513064	71513066	Human		name
401961593	CV2843914	single nucleotide variant	NM_018429.3(BDP1):c.29A>G (p.Lys10Arg)	not provided [RCV003481753]	uncertain significance	5	71455906	71455906	Human		name
405262442	CV3200304	single nucleotide variant	NM_018429.3(BDP1):c.852G>A (p.Glu284=)	BDP1-related disorder [RCV003967306]	likely benign	5	71467420	71467420	Human		name , trait , alternate_id
150501548	CV1238425	single nucleotide variant	NM_018429.3(BDP1):c.1203A>G (p.Lys401=)	not provided [RCV001656855]	benign	5	71486617	71486617	Human		name
150461822	CV1253289	single nucleotide variant	NM_018429.3(BDP1):c.2148T>A (p.Gly716=)	not provided [RCV001669618]	benign	5	71502698	71502698	Human		name
150471950	CV1270178	single nucleotide variant	NM_018429.3(BDP1):c.282A>T (p.Arg94Ser)	not provided [RCV001695466]	benign	5	71458648	71458648	Human		name
150532327	CV1308519	single nucleotide variant	NM_018429.3(BDP1):c.2535A>G (p.Ala845=)	not provided [RCV001757564]	likely benign	5	71509627	71509627	Human		name
150553875	CV1308956	single nucleotide variant	NM_018429.3(BDP1):c.2268G>A (p.Ser756=)	not provided [RCV001769869]	likely benign	5	71504647	71504647	Human		name
150550351	CV1309280	single nucleotide variant	NM_018429.3(BDP1):c.2550T>C (p.Thr850=)	not provided [RCV001752961]	likely benign	5	71509642	71509642	Human		name
156380401	CV2208789	single nucleotide variant	NM_018429.3(BDP1):c.188C>T (p.Pro63Leu)	not specified [RCV004084972]	uncertain significance	5	71456065	71456065	Human		name
401961594	CV2843915	single nucleotide variant	NM_018429.3(BDP1):c.296C>T (p.Ser99Leu)	not provided [RCV003481754]	uncertain significance	5	71458662	71458662	Human		name
405286816	CV3213830	single nucleotide variant	NM_018429.3(BDP1):c.2122T>C (p.Leu708=)	BDP1-related disorder [RCV003924226]	likely benign	5	71502672	71502672	Human		name , trait , alternate_id
405258964	CV3215241	single nucleotide variant	NM_018429.3(BDP1):c.2307T>C (p.Pro769=)	BDP1-related disorder [RCV003942279]	likely benign	5	71504686	71504686	Human		name , trait , alternate_id
405727300	CV3298082	single nucleotide variant	NM_018429.3(BDP1):c.215C>T (p.Thr72Ile)	not specified [RCV004428903]	uncertain significance	5	71458581	71458581	Human		name
405727324	CV3298085	single nucleotide variant	NM_018429.3(BDP1):c.255T>G (p.Ser85Arg)	not specified [RCV004428906]	uncertain significance	5	71458621	71458621	Human		name
597737519	CV3639900	single nucleotide variant	NM_018429.3(BDP1):c.167T>C (p.Val56Ala)	not specified [RCV004889914]	uncertain significance	5	71456044	71456044	Human		name
598201838	CV3938749	single nucleotide variant	NM_018429.3(BDP1):c.240T>A (p.Asp80Glu)	not specified [RCV005314319]	uncertain significance	5	71458606	71458606	Human		name
598276681	CV3938760	single nucleotide variant	NM_018429.3(BDP1):c.106C>T (p.Pro36Ser)	not specified [RCV005305815]	uncertain significance	5	71455983	71455983	Human		name
598276684	CV3938764	single nucleotide variant	NM_018429.3(BDP1):c.160C>T (p.Pro54Ser)	not specified [RCV005305818]	uncertain significance	5	71456037	71456037	Human		name
13539737	CV500911	single nucleotide variant	NM_018429.3(BDP1):c.2190A>G (p.Glu730=)	BDP1-related disorder [RCV003962799]\|not provided [RCV001712672]	likely benign	5	71502740	71502740	Human	1	name , trait , alternate_id
13535607	CV501602	single nucleotide variant	NM_018429.3(BDP1):c.114T>G (p.Asp38Glu)	Hearing loss, autosomal recessive 112 [RCV001554054]\|not provided [RCV004716571]\|not specified [RCV000607895]	benign	5	71455991	71455991	Human	1	name
13538239	CV501605	single nucleotide variant	NM_018429.3(BDP1):c.1245T>C (p.Asn415=)	not specified [RCV000611535]	likely benign	5	71489435	71489435	Human		name
14721355	CV655667	single nucleotide variant	NM_018429.3(BDP1):c.193G>A (p.Glu65Lys)	not provided [RCV000831638]	likely benign	5	71456070	71456070	Human		name
14743032	CV655669	single nucleotide variant	NM_018429.3(BDP1):c.1689C>T (p.Ser563=)	not provided [RCV000841785]	likely benign	5	71495298	71495298	Human		name
14739613	CV655670	single nucleotide variant	NM_018429.3(BDP1):c.1746T>C (p.Asn582=)	not provided [RCV000839955]	likely benign	5	71495355	71495355	Human		name
14707915	CV655671	single nucleotide variant	NM_018429.3(BDP1):c.2745G>A (p.Thr915=)	not provided [RCV000826976]	likely benign	5	71509837	71509837	Human		name
150336679	CV1171445	microsatellite	NM_018429.3(BDP1):c.6022+255_6022+271del	not provided [RCV001541110]	benign	5	71539882	71539898	Human		name
150515451	CV1227562	single nucleotide variant	NM_018429.3(BDP1):c.823G>A (p.Val275Ile)	not provided [RCV001638835]	benign	5	71467391	71467391	Human		name
150486087	CV1250360	duplication	NM_018429.3(BDP1):c.1493-84_1493-83insCA	not provided [RCV001673973]	benign	5	71490899	71490900	Human		name
150471855	CV1259198	duplication	NM_018429.3(BDP1):c.6023-320_6023-317dup	not provided [RCV001684443]	benign	5	71541131	71541132	Human		name
150447594	CV1261841	single nucleotide variant	NM_018429.3(BDP1):c.4272G>A (p.Lys1424=)	not provided [RCV001680225]	benign	5	71513209	71513209	Human		name
150535484	CV1306301	single nucleotide variant	NM_018429.3(BDP1):c.3186G>A (p.Thr1062=)	not provided [RCV001759229]	likely benign	5	71510278	71510278	Human		name
150552606	CV1306451	single nucleotide variant	NM_018429.3(BDP1):c.3984C>A (p.Thr1328=)	not provided [RCV001768073]	likely benign	5	71511076	71511076	Human		name
150535199	CV1306975	single nucleotide variant	NM_018429.3(BDP1):c.7848C>A (p.Ile2616=)	not provided [RCV001759029]	likely benign	5	71564858	71564858	Human		name
150532408	CV1307956	single nucleotide variant	NM_018429.3(BDP1):c.4737G>A (p.Pro1579=)	not provided [RCV001757678]	likely benign	5	71516148	71516148	Human		name
150532414	CV1307966	single nucleotide variant	NM_018429.3(BDP1):c.7026A>G (p.Gln2342=)	not provided [RCV001757688]	likely benign	5	71553146	71553146	Human		name
150550465	CV1308199	single nucleotide variant	NM_018429.3(BDP1):c.4935A>G (p.Gln1645=)	not provided [RCV001753190]	likely benign	5	71517396	71517396	Human		name
150532312	CV1308510	single nucleotide variant	NM_018429.3(BDP1):c.5073A>G (p.Arg1691=)	not provided [RCV001757555]	likely benign	5	71522370	71522370	Human		name
150532359	CV1308544	single nucleotide variant	NM_018429.3(BDP1):c.7014T>G (p.Thr2338=)	not provided [RCV001757589]	likely benign	5	71553134	71553134	Human		name
150550859	CV1308563	single nucleotide variant	NM_018429.3(BDP1):c.7575C>T (p.Val2525=)	BDP1-related disorder [RCV003913370]\|not provided [RCV001766067]	likely benign	5	71562352	71562352	Human	1	name , trait , alternate_id
150550892	CV1308654	single nucleotide variant	NM_018429.3(BDP1):c.6342C>T (p.Asn2114=)	not provided [RCV001766158]	likely benign	5	71542195	71542195	Human		name
150553878	CV1308964	single nucleotide variant	NM_018429.3(BDP1):c.6144T>A (p.Thr2048=)	BDP1-related disorder [RCV003911004]\|not provided [RCV001769877]	likely benign	5	71541575	71541575	Human	1	name , trait , alternate_id
150550342	CV1309265	single nucleotide variant	NM_018429.3(BDP1):c.5949C>T (p.Thr1983=)	not provided [RCV001752946]	likely benign	5	71539576	71539576	Human		name
150532572	CV1309287	duplication	NM_018429.3(BDP1):c.6564-134_6564-132dup	not provided [RCV001752968]	likely benign	5	71544904	71544905	Human		name
156281638	CV2288759	single nucleotide variant	NM_018429.3(BDP1):c.646G>T (p.Val216Phe)	not specified [RCV004147981]	uncertain significance	5	71464104	71464104	Human		name
156183337	CV2353226	single nucleotide variant	NM_018429.3(BDP1):c.675T>G (p.Ser225Arg)	not specified [RCV004203693]	uncertain significance	5	71466111	71466111	Human		name
329402279	CV2454121	single nucleotide variant	NM_018429.3(BDP1):c.722G>A (p.Gly241Glu)	not specified [RCV004265618]	uncertain significance	5	71466158	71466158	Human		name
401775658	CV2692452	single nucleotide variant	NM_018429.3(BDP1):c.344C>T (p.Ser115Phe)	not specified [RCV004312209]	uncertain significance	5	71458710	71458710	Human		name
405267717	CV3202625	single nucleotide variant	NM_018429.3(BDP1):c.6390G>A (p.Gly2130=)	BDP1-related disorder [RCV003911847]	likely benign	5	71542243	71542243	Human		name , trait , alternate_id
405727369	CV3298091	single nucleotide variant	NM_018429.3(BDP1):c.361A>G (p.Ile121Val)	not specified [RCV004428912]	likely benign	5	71458727	71458727	Human		name
405727496	CV3298105	single nucleotide variant	NM_018429.3(BDP1):c.625A>T (p.Thr209Ser)	not specified [RCV004428926]	uncertain significance	5	71464083	71464083	Human		name
405727524	CV3298108	single nucleotide variant	NM_018429.3(BDP1):c.670A>G (p.Lys224Glu)	not specified [RCV004428929]	uncertain significance	5	71466106	71466106	Human		name
405727560	CV3298112	single nucleotide variant	NM_018429.3(BDP1):c.893A>G (p.Tyr298Cys)	not specified [RCV004428933]	uncertain significance	5	71467461	71467461	Human		name
407472526	CV3427478	single nucleotide variant	NM_018429.3(BDP1):c.556A>G (p.Met186Val)	not specified [RCV004600137]	uncertain significance	5	71461883	71461883	Human		name
597737460	CV3639886	single nucleotide variant	NM_018429.3(BDP1):c.397A>G (p.Thr133Ala)	not specified [RCV004889901]	uncertain significance	5	71458763	71458763	Human		name
597737528	CV3639903	single nucleotide variant	NM_018429.3(BDP1):c.931T>C (p.Phe311Leu)	not specified [RCV004889916]	uncertain significance	5	71470406	71470406	Human		name
597681782	CV3718527	single nucleotide variant	NM_018429.3(BDP1):c.821G>A (p.Cys274Tyr)	Hearing loss, autosomal recessive 112 [RCV005045448]	uncertain significance	5	71467389	71467389	Human	1	name
598201848	CV3938757	single nucleotide variant	NM_018429.3(BDP1):c.469G>C (p.Glu157Gln)	not specified [RCV005314321]	uncertain significance	5	71458835	71458835	Human		name
598276693	CV3938781	single nucleotide variant	NM_018429.3(BDP1):c.515T>C (p.Ile172Thr)	not specified [RCV005305827]	uncertain significance	5	71461842	71461842	Human		name
13540609	CV500919	single nucleotide variant	NM_018429.3(BDP1):c.4902C>T (p.Ser1634=)	not provided [RCV001697529]	benign\|likely benign	5	71517363	71517363	Human		name
13537245	CV500921	single nucleotide variant	NM_018429.3(BDP1):c.5916C>A (p.Ile1972=)	not provided [RCV004716582]\|not specified [RCV000610140]	benign	5	71539065	71539066	Human	2	name
13537245	CV500921	single nucleotide variant	NM_018429.3(BDP1):c.5916C>A (p.Ile1972=)	not provided [RCV004716582]\|not specified [RCV000610140]	benign	5	71539065	71539065	Human	2	name
13534896	CV501236	single nucleotide variant	NM_018429.3(BDP1):c.6462C>T (p.Leu2154=)	Hearing loss, autosomal recessive 112 [RCV001554218]\|not provided [RCV004716575]\|not specified [RCV000602041]	benign	5	71544406	71544406	Human	1	name
13526822	CV501246	single nucleotide variant	NM_018429.3(BDP1):c.7590C>T (p.Arg2530=)	not provided [RCV004717690]\|not specified [RCV000604657]	benign	5	71562367	71562367	Human		name
13539895	CV501372	single nucleotide variant	NM_018429.3(BDP1):c.638C>T (p.Ser213Leu)	not provided [RCV001697953]	benign\|likely benign	5	71464096	71464096	Human		name
13539114	CV501389	single nucleotide variant	NM_018429.3(BDP1):c.5889G>A (p.Pro1963=)	not provided [RCV001719056]	benign\|likely benign	5	71532424	71532424	Human		name
13536558	CV501390	single nucleotide variant	NM_018429.3(BDP1):c.7074G>T (p.Pro2358=)	Hearing loss, autosomal recessive 112 [RCV001554219]\|not provided [RCV004716576]\|not specified [RCV000609175]	benign	5	71553194	71553194	Human	1	name
13530119	CV501614	single nucleotide variant	NM_018429.3(BDP1):c.3654G>A (p.Lys1218=)	not provided [RCV001697530]	benign\|likely benign	5	71510746	71510746	Human		name
13538326	CV501631	single nucleotide variant	NM_018429.3(BDP1):c.4578A>G (p.Ser1526=)	not provided [RCV000991577]	benign\|likely benign	5	71515051	71515051	Human		name
13808334	CV576825	single nucleotide variant	NM_018429.3(BDP1):c.5784T>G (p.Thr1928=)	not provided [RCV000710728]	benign	5	71532319	71532319	Human		name
14746300	CV655668	single nucleotide variant	NM_018429.3(BDP1):c.374C>T (p.Ala125Val)	not provided [RCV000844292]	benign	5	71458740	71458740	Human		name
14743867	CV655673	single nucleotide variant	NM_018429.3(BDP1):c.4899G>A (p.Ser1633=)	not provided [RCV000842362]	likely benign	5	71517360	71517360	Human		name
14711311	CV655677	single nucleotide variant	NM_018429.3(BDP1):c.5664A>G (p.Glu1888=)	not provided [RCV000827995]	likely benign	5	71524215	71524215	Human		name
14746301	CV655678	single nucleotide variant	NM_018429.3(BDP1):c.6228A>G (p.Val2076=)	not provided [RCV000844293]	likely benign	5	71541659	71541659	Human		name
14708794	CV655679	single nucleotide variant	NM_018429.3(BDP1):c.6960C>T (p.Val2320=)	not provided [RCV000827255]	likely benign	5	71549571	71549571	Human		name
15140711	CV709978	single nucleotide variant	NM_018429.3(BDP1):c.6537T>C (p.Ile2179=)	not provided [RCV000966185]	likely benign	5	71544481	71544481	Human		name
126738959	CV1016592	single nucleotide variant	NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile)	Hearing loss, autosomal recessive 112 [RCV001329073]\|not provided [RCV004692521]\|not specified [RCV004035662]	uncertain significance	5	71509896	71509896	Human	1	name
150502298	CV1241207	insertion	NM_018429.3(BDP1):c.6809-184_6809-183insG	not provided [RCV001657103]	benign	5	71549236	71549237	Human		name
150442686	CV1266272	single nucleotide variant	NM_018429.3(BDP1):c.2510T>G (p.Ile837Ser)	BDP1-related disorder [RCV003941078]\|not provided [RCV001690708]	benign	5	71509602	71509602	Human	1	name , trait , alternate_id
150552615	CV1306495	single nucleotide variant	NM_018429.3(BDP1):c.2747C>G (p.Pro916Arg)	not provided [RCV001768117]	likely benign	5	71509839	71509839	Human		name
150552624	CV1306531	single nucleotide variant	NM_018429.3(BDP1):c.1294C>A (p.Gln432Lys)	BDP1-related disorder [RCV004758193]\|not provided [RCV001768154]\|not specified [RCV004040715]	likely benign\|uncertain significance	5	71489484	71489484	Human	1	name , trait , alternate_id
150553799	CV1307800	single nucleotide variant	NM_018429.3(BDP1):c.2030A>G (p.Glu677Gly)	not provided [RCV001769575]	likely benign	5	71501635	71501635	Human		name
150550395	CV1308045	single nucleotide variant	NM_018429.3(BDP1):c.1078C>T (p.Arg360Cys)	not provided [RCV001753035]	likely benign	5	71486492	71486492	Human		name
150535589	CV1309150	single nucleotide variant	NM_018429.3(BDP1):c.2270G>A (p.Arg757His)	not provided [RCV001759357]\|not specified [RCV004040725]	likely benign\|uncertain significance	5	71504649	71504649	Human		name
156063969	CV2200031	single nucleotide variant	NM_018429.3(BDP1):c.1300G>C (p.Asp434His)	not specified [RCV004074189]	uncertain significance	5	71489490	71489490	Human		name
155921039	CV2210957	single nucleotide variant	NM_018429.3(BDP1):c.2531C>T (p.Ala844Val)	not specified [RCV004086030]	uncertain significance	5	71509623	71509623	Human		name
156333844	CV2214667	single nucleotide variant	NM_018429.3(BDP1):c.1844G>A (p.Arg615His)	not specified [RCV004090490]	uncertain significance	5	71497314	71497314	Human		name
156187856	CV2226721	single nucleotide variant	NM_018429.3(BDP1):c.2230G>A (p.Ala744Thr)	not specified [RCV004101949]	uncertain significance	5	71502780	71502780	Human		name
156018481	CV2233157	single nucleotide variant	NM_018429.3(BDP1):c.2632G>A (p.Gly878Arg)	not specified [RCV004103770]	uncertain significance	5	71509724	71509724	Human		name
156271870	CV2290428	single nucleotide variant	NM_018429.3(BDP1):c.2173C>G (p.Leu725Val)	not specified [RCV004154843]	uncertain significance	5	71502723	71502723	Human		name
156196691	CV2293484	single nucleotide variant	NM_018429.3(BDP1):c.1939A>G (p.Lys647Glu)	not specified [RCV004153023]	likely benign	5	71497409	71497409	Human		name
156073982	CV2321624	single nucleotide variant	NM_018429.3(BDP1):c.1763T>C (p.Ile588Thr)	not specified [RCV004179642]	likely benign	5	71495372	71495372	Human		name
155915863	CV2339223	single nucleotide variant	NM_018429.3(BDP1):c.2501T>G (p.Leu834Arg)	not specified [RCV004191464]	uncertain significance	5	71509593	71509593	Human		name
156065324	CV2346492	single nucleotide variant	NM_018429.3(BDP1):c.2429G>A (p.Arg810Gln)	not specified [RCV004206415]	uncertain significance	5	71509521	71509521	Human		name
155939226	CV2375727	single nucleotide variant	NM_018429.3(BDP1):c.1994T>C (p.Ile665Thr)	not specified [RCV004224322]	uncertain significance	5	71501599	71501599	Human		name
155904237	CV2385448	single nucleotide variant	NM_018429.3(BDP1):c.1340G>A (p.Arg447Lys)	not specified [RCV004233100]	uncertain significance	5	71489530	71489530	Human		name
156104906	CV2386989	single nucleotide variant	NM_018429.3(BDP1):c.1882A>G (p.Lys628Glu)	not specified [RCV004226744]	uncertain significance	5	71497352	71497352	Human		name
156092105	CV2389538	single nucleotide variant	NM_018429.3(BDP1):c.2924A>T (p.Asp975Val)	not specified [RCV004243609]	uncertain significance	5	71510016	71510016	Human		name
156001201	CV2391869	single nucleotide variant	NM_018429.3(BDP1):c.1504G>C (p.Ala502Pro)	not specified [RCV004235742]	uncertain significance	5	71490995	71490995	Human		name
329366544	CV2445812	single nucleotide variant	NM_018429.3(BDP1):c.2052G>T (p.Leu684Phe)	not specified [RCV004259866]	uncertain significance	5	71502602	71502602	Human		name
329397572	CV2456309	single nucleotide variant	NM_018429.3(BDP1):c.1262T>C (p.Met421Thr)	not specified [RCV004275477]	uncertain significance	5	71489452	71489452	Human		name
329367887	CV2457156	single nucleotide variant	NM_018429.3(BDP1):c.2486C>T (p.Ser829Leu)	not specified [RCV004264928]	uncertain significance	5	71509578	71509578	Human		name
401741856	CV2677452	single nucleotide variant	NM_018429.3(BDP1):c.2252A>G (p.His751Arg)	not specified [RCV004289521]	uncertain significance	5	71504631	71504631	Human		name
401751992	CV2703141	single nucleotide variant	NM_018429.3(BDP1):c.1576G>A (p.Gly526Ser)	not specified [RCV004321428]	uncertain significance	5	71491067	71491067	Human		name
401722593	CV2703427	single nucleotide variant	NM_018429.3(BDP1):c.1217A>G (p.Lys406Arg)	not specified [RCV004317626]	uncertain significance	5	71489407	71489407	Human		name
401726782	CV2736178	single nucleotide variant	NM_018429.3(BDP1):c.2638A>G (p.Arg880Gly)	not provided [RCV003312625]	uncertain significance	5	71509730	71509730	Human		name
401898348	CV2787698	single nucleotide variant	NM_018429.3(BDP1):c.1222G>A (p.Val408Ile)	not specified [RCV004356620]	likely benign	5	71489412	71489412	Human		name
401961595	CV2843916	single nucleotide variant	NM_018429.3(BDP1):c.2132C>G (p.Pro711Arg)	not provided [RCV003481755]	uncertain significance	5	71502682	71502682	Human		name
405727257	CV3298077	single nucleotide variant	NM_018429.3(BDP1):c.1084T>A (p.Phe362Ile)	not specified [RCV004428898]	uncertain significance	5	71486498	71486498	Human		name
405727268	CV3298078	single nucleotide variant	NM_018429.3(BDP1):c.1198C>T (p.Arg400Trp)	not specified [RCV004428899]	uncertain significance	5	71486612	71486612	Human		name
405727286	CV3298080	single nucleotide variant	NM_018429.3(BDP1):c.1318G>C (p.Glu440Gln)	not specified [RCV004428901]	uncertain significance	5	71489508	71489508	Human		name
405727293	CV3298081	single nucleotide variant	NM_018429.3(BDP1):c.1873A>G (p.Arg625Gly)	not specified [RCV004428902]	uncertain significance	5	71497343	71497343	Human		name
405727309	CV3298083	single nucleotide variant	NM_018429.3(BDP1):c.2191A>G (p.Ile731Val)	not specified [RCV004428904]	uncertain significance	5	71502741	71502741	Human		name
405727317	CV3298084	single nucleotide variant	NM_018429.3(BDP1):c.2261A>G (p.Asp754Gly)	not specified [RCV004428905]	uncertain significance	5	71504640	71504640	Human		name
405727328	CV3298086	single nucleotide variant	NM_018429.3(BDP1):c.2809A>T (p.Ile937Leu)	not specified [RCV004428907]	uncertain significance	5	71509901	71509901	Human		name
407499950	CV3427479	single nucleotide variant	NM_018429.3(BDP1):c.2561A>G (p.Asp854Gly)	not specified [RCV004607024]	uncertain significance	5	71509653	71509653	Human		name
407499954	CV3427481	single nucleotide variant	NM_018429.3(BDP1):c.2099G>A (p.Arg700Lys)	not specified [RCV004607025]	uncertain significance	5	71502649	71502649	Human		name
597737423	CV3639877	single nucleotide variant	NM_018429.3(BDP1):c.2338C>A (p.Pro780Thr)	not specified [RCV004889893]	uncertain significance	5	71504717	71504717	Human		name
597737437	CV3639880	single nucleotide variant	NM_018429.3(BDP1):c.2842A>G (p.Lys948Glu)	not specified [RCV004889896]	uncertain significance	5	71509934	71509934	Human		name
597737446	CV3639883	single nucleotide variant	NM_018429.3(BDP1):c.2989A>G (p.Asn997Asp)	not specified [RCV004889898]	uncertain significance	5	71510081	71510081	Human		name
597737450	CV3639884	single nucleotide variant	NM_018429.3(BDP1):c.1835T>C (p.Leu612Ser)	not specified [RCV004889899]	uncertain significance	5	71497305	71497305	Human		name
597737468	CV3639888	single nucleotide variant	NM_018429.3(BDP1):c.2359A>G (p.Asn787Asp)	not specified [RCV004889903]	uncertain significance	5	71504738	71504738	Human		name
597737514	CV3639899	single nucleotide variant	NM_018429.3(BDP1):c.2022G>T (p.Glu674Asp)	not specified [RCV004889913]	uncertain significance	5	71501627	71501627	Human		name
598276673	CV3938748	single nucleotide variant	NM_018429.3(BDP1):c.1690A>C (p.Thr564Pro)	not specified [RCV005305807]	uncertain significance	5	71495299	71495299	Human		name
598276675	CV3938751	single nucleotide variant	NM_018429.3(BDP1):c.2111T>C (p.Val704Ala)	not specified [RCV005305809]	uncertain significance	5	71502661	71502661	Human		name
598276677	CV3938753	single nucleotide variant	NM_018429.3(BDP1):c.1894C>T (p.Leu632Phe)	not specified [RCV005305811]	uncertain significance	5	71497364	71497364	Human		name
598201844	CV3938754	single nucleotide variant	NM_018429.3(BDP1):c.1435A>G (p.Asn479Asp)	not specified [RCV005314320]	uncertain significance	5	71489625	71489625	Human		name
598201853	CV3938758	single nucleotide variant	NM_018429.3(BDP1):c.1655C>T (p.Ala552Val)	not specified [RCV005314322]	uncertain significance	5	71495264	71495264	Human		name
598276680	CV3938759	single nucleotide variant	NM_018429.3(BDP1):c.1912G>C (p.Glu638Gln)	not specified [RCV005305814]	uncertain significance	5	71497382	71497382	Human		name
598276682	CV3938762	single nucleotide variant	NM_018429.3(BDP1):c.1837A>G (p.Arg613Gly)	not specified [RCV005305816]	uncertain significance	5	71497307	71497307	Human		name
598201875	CV3938769	single nucleotide variant	NM_018429.3(BDP1):c.1093G>A (p.Asp365Asn)	not specified [RCV005314326]	uncertain significance	5	71486507	71486507	Human		name
598201899	CV3938778	single nucleotide variant	NM_018429.3(BDP1):c.1466G>T (p.Gly489Val)	not specified [RCV005314331]	uncertain significance	5	71489656	71489656	Human		name
598276692	CV3938780	single nucleotide variant	NM_018429.3(BDP1):c.1876G>A (p.Ala626Thr)	not specified [RCV005305826]	uncertain significance	5	71497346	71497346	Human		name
13528679	CV500910	single nucleotide variant	NM_018429.3(BDP1):c.2176A>T (p.Ile726Leu)	not provided [RCV000953785]	benign\|likely benign	5	71502726	71502726	Human		name
13531016	CV501227	single nucleotide variant	NM_018429.3(BDP1):c.1512G>T (p.Arg504Ser)	not provided [RCV001712681]	benign\|likely benign	5	71491003	71491003	Human		name
13532214	CV501377	single nucleotide variant	NM_018429.3(BDP1):c.2164A>G (p.Lys722Glu)	not provided [RCV004716579]\|not specified [RCV000606728]	benign	5	71502714	71502714	Human	3	name
13532214	CV501377	single nucleotide variant	NM_018429.3(BDP1):c.2164A>G (p.Lys722Glu)	not provided [RCV004716579]\|not specified [RCV000606728]	benign	5	71502714	71502715	Human	3	name
13541373	CV501380	single nucleotide variant	NM_018429.3(BDP1):c.2269C>T (p.Arg757Cys)	not provided [RCV004717689]\|not specified [RCV000616068]	benign	5	71504648	71504648	Human		name
13539093	CV501609	single nucleotide variant	NM_018429.3(BDP1):c.2332G>A (p.Val778Met)	Hearing loss, autosomal recessive 112 [RCV001554055]\|not provided [RCV004716572]\|not specified [RCV000612793]	benign	5	71504711	71504711	Human	1	name
14745062	CV655672	single nucleotide variant	NM_018429.3(BDP1):c.2788G>A (p.Glu930Lys)	BDP1-related disorder [RCV003938202]\|not provided [RCV000843135]\|not specified [RCV004601294]	likely benign\|uncertain significance	5	71509880	71509880	Human	1	name , trait , alternate_id
21072965	CV793093	single nucleotide variant	NM_018429.3(BDP1):c.1060A>G (p.Lys354Glu)	not provided [RCV000991574]\|not specified [RCV004030124]	uncertain significance	5	71483887	71483887	Human		name
21072970	CV793094	single nucleotide variant	NM_018429.3(BDP1):c.2210A>G (p.Lys737Arg)	BDP1-related disorder [RCV003936249]\|not provided [RCV000991575]	likely benign	5	71502760	71502760	Human	1	name , trait , alternate_id
21404587	CV800970	single nucleotide variant	NM_018429.3(BDP1):c.1714G>T (p.Val572Phe)	Deafness [RCV001003513]	likely pathogenic	5	71495323	71495323	Human	2	name
8626043	CV81187	single nucleotide variant	NM_018429.2(BDP1):c.1315G>A (p.Glu439Lys)	Malignant melanoma [RCV000061265]	not provided	5	71489505	71489505	Human		name
8626044	CV81188	single nucleotide variant	NM_018429.2(BDP1):c.2813C>T (p.Ser938Phe)	Malignant melanoma [RCV000061266]	not provided	5	71509905	71509905	Human		name
8631683	CV86887	single nucleotide variant	NM_018429.2(BDP1):c.1837A>T (p.Arg613Ter)	Malignant melanoma [RCV000066978]	not provided	5	71497307	71497307	Human		name
126911135	CV1037644	single nucleotide variant	NM_018429.3(BDP1):c.3608C>T (p.Thr1203Ile)	not provided [RCV001355056]	uncertain significance	5	71510700	71510700	Human		name
126911054	CV1037645	single nucleotide variant	NM_018429.3(BDP1):c.6733C>G (p.Pro2245Ala)	not provided [RCV001354970]\|not specified [RCV004887676]	uncertain significance	5	71545208	71545208	Human		name
150333267	CV1171443	single nucleotide variant	NM_018429.3(BDP1):c.3839C>G (p.Ala1280Gly)	BDP1-related disorder [RCV004758189]\|not provided [RCV001539400]\|not specified [RCV001658261]	benign	5	71510931	71510931	Human	1	name , trait , alternate_id
150513972	CV1210794	single nucleotide variant	NM_018429.3(BDP1):c.4636G>T (p.Val1546Phe)	not provided [RCV001598835]	benign	5	71515109	71515109	Human		name
150456664	CV1219517	single nucleotide variant	NM_018429.3(BDP1):c.3043A>C (p.Thr1015Pro)	BDP1-related disorder [RCV003910932]\|not provided [RCV001612732]	benign\|likely benign	5	71510135	71510135	Human	1	name , trait , alternate_id
150516341	CV1228314	single nucleotide variant	NM_018429.3(BDP1):c.3212G>C (p.Ser1071Thr)	BDP1-related disorder [RCV003921283]\|not provided [RCV001639120]	benign	5	71510304	71510304	Human	1	name , trait , alternate_id
150460261	CV1231312	single nucleotide variant	NM_018429.3(BDP1):c.6754A>C (p.Thr2252Pro)	not provided [RCV001640876]	benign	5	71548691	71548691	Human		name
150462920	CV1234982	single nucleotide variant	NM_018429.3(BDP1):c.3797A>C (p.Glu1266Ala)	BDP1-related disorder [RCV003968421]\|not provided [RCV001649564]	benign\|likely benign	5	71510889	71510889	Human	1	name , trait , alternate_id
150510015	CV1286339	single nucleotide variant	NM_018429.3(BDP1):c.6601A>G (p.Met2201Val)	not provided [RCV001720867]	benign	5	71545076	71545076	Human		name
150510047	CV1286649	single nucleotide variant	NM_018429.3(BDP1):c.7189T>G (p.Tyr2397Asp)	not provided [RCV001720884]	benign	5	71553309	71553309	Human		name
150528671	CV1306024	single nucleotide variant	NM_018429.3(BDP1):c.5053G>C (p.Ala1685Pro)	BDP1-related disorder [RCV003948715]\|not provided [RCV001755427]	likely benign	5	71522350	71522350	Human	1	name , trait , alternate_id
150535508	CV1306319	single nucleotide variant	NM_018429.3(BDP1):c.3364G>C (p.Gly1122Arg)	not provided [RCV001759247]	likely benign	5	71510456	71510456	Human		name
150552604	CV1306444	single nucleotide variant	NM_018429.3(BDP1):c.6610G>T (p.Val2204Phe)	Waardenburg syndrome [RCV004794544]\|not provided [RCV001768066]\|not specified [RCV004040713]	likely benign\|uncertain significance	5	71545085	71545085	Human	1	name
150528935	CV1307445	single nucleotide variant	NM_018429.3(BDP1):c.5531G>A (p.Arg1844His)	not provided [RCV001755582]	likely benign	5	71524082	71524082	Human		name
150553792	CV1307773	single nucleotide variant	NM_018429.3(BDP1):c.7646A>G (p.Asn2549Ser)	not provided [RCV001769548]\|not specified [RCV004040698]	likely benign	5	71562423	71562423	Human		name
150550373	CV1308009	single nucleotide variant	NM_018429.3(BDP1):c.7036G>C (p.Gly2346Arg)	BDP1-related disorder [RCV004758194]\|not provided [RCV001752999]\|not specified [RCV004040726]	likely benign\|uncertain significance	5	71553156	71553156	Human	1	name , trait , alternate_id
150550378	CV1308023	single nucleotide variant	NM_018429.3(BDP1):c.3364G>A (p.Gly1122Arg)	BDP1-related disorder [RCV003956368]\|not provided [RCV001753013]	likely benign	5	71510456	71510456	Human	1	name , trait , alternate_id
150550492	CV1308227	single nucleotide variant	NM_018429.3(BDP1):c.3602A>C (p.Glu1201Ala)	BDP1-related disorder [RCV004758195]\|not provided [RCV001753218]	likely benign	5	71510694	71510694	Human	1	name , trait , alternate_id
150550860	CV1308566	single nucleotide variant	NM_018429.3(BDP1):c.5851A>G (p.Thr1951Ala)	not provided [RCV001766070]\|not specified [RCV004040692]	likely benign\|uncertain significance	5	71532386	71532386	Human		name
150550888	CV1308630	single nucleotide variant	NM_018429.3(BDP1):c.3688A>G (p.Ile1230Val)	not provided [RCV001766134]	likely benign	5	71510780	71510780	Human		name
150550902	CV1308723	single nucleotide variant	NM_018429.3(BDP1):c.6370A>G (p.Ser2124Gly)	BDP1-related disorder [RCV003956364]\|not provided [RCV001766227]	likely benign	5	71542223	71542223	Human	1	name , trait , alternate_id
150550925	CV1308774	single nucleotide variant	NM_018429.3(BDP1):c.4238T>C (p.Ile1413Thr)	not provided [RCV001766278]	likely benign	5	71512419	71512419	Human		name
155683275	CV1784693	single nucleotide variant	NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)	Hearing loss, autosomal recessive 112 [RCV002310617]	uncertain significance	5	71524094	71524094	Human	1	name
156237586	CV2193571	single nucleotide variant	NM_018429.3(BDP1):c.4433A>G (p.Glu1478Gly)	not specified [RCV004073045]	uncertain significance	5	71513370	71513370	Human		name
156237603	CV2193573	single nucleotide variant	NM_018429.3(BDP1):c.7631G>T (p.Arg2544Ile)	not specified [RCV004073047]	uncertain significance	5	71562408	71562408	Human		name
156320383	CV2197289	single nucleotide variant	NM_018429.3(BDP1):c.3728A>T (p.Glu1243Val)	not specified [RCV004079060]	uncertain significance	5	71510820	71510820	Human		name
156379607	CV2211460	single nucleotide variant	NM_018429.3(BDP1):c.6777A>T (p.Gln2259His)	not specified [RCV004090687]	uncertain significance	5	71548714	71548714	Human		name
155942707	CV2225849	single nucleotide variant	NM_018429.3(BDP1):c.4094C>T (p.Thr1365Ile)	not specified [RCV004103249]	uncertain significance	5	71512275	71512275	Human		name
156382484	CV2227380	single nucleotide variant	NM_018429.3(BDP1):c.5623G>C (p.Asp1875His)	not specified [RCV004091886]	uncertain significance	5	71524174	71524174	Human		name
156169196	CV2247299	single nucleotide variant	NM_018429.3(BDP1):c.7616G>A (p.Arg2539Lys)	not specified [RCV004108649]	uncertain significance	5	71562393	71562393	Human		name
155986004	CV2247926	single nucleotide variant	NM_018429.3(BDP1):c.7391C>G (p.Pro2464Arg)	not specified [RCV004121364]	uncertain significance	5	71560132	71560132	Human		name
156033492	CV2256435	single nucleotide variant	NM_018429.3(BDP1):c.4775T>C (p.Val1592Ala)	not specified [RCV004118653]	uncertain significance	5	71516186	71516186	Human		name
155988492	CV2259576	single nucleotide variant	NM_018429.3(BDP1):c.4945G>A (p.Val1649Ile)	not specified [RCV004116623]	likely benign	5	71517406	71517406	Human		name
155966412	CV2261909	single nucleotide variant	NM_018429.3(BDP1):c.4300G>A (p.Val1434Met)	not specified [RCV004127960]	uncertain significance	5	71513237	71513237	Human		name
156263512	CV2282582	single nucleotide variant	NM_018429.3(BDP1):c.3717G>T (p.Lys1239Asn)	not specified [RCV004135149]	uncertain significance	5	71510809	71510809	Human		name
156184608	CV2292248	single nucleotide variant	NM_018429.3(BDP1):c.3772G>A (p.Gly1258Arg)	not specified [RCV004148287]	uncertain significance	5	71510864	71510864	Human		name
156001961	CV2296465	single nucleotide variant	NM_018429.3(BDP1):c.4897T>C (p.Ser1633Pro)	not specified [RCV004148205]	uncertain significance	5	71517358	71517358	Human		name
156168129	CV2299355	single nucleotide variant	NM_018429.3(BDP1):c.5477A>G (p.Asn1826Ser)	not specified [RCV004152663]	uncertain significance	5	71524028	71524028	Human		name
156146858	CV2311117	single nucleotide variant	NM_018429.3(BDP1):c.3535G>A (p.Glu1179Lys)	not specified [RCV004164108]	uncertain significance	5	71510627	71510627	Human		name
156066568	CV2317856	single nucleotide variant	NM_018429.3(BDP1):c.3193A>C (p.Lys1065Gln)	not specified [RCV004175094]	uncertain significance	5	71510285	71510285	Human		name
156328667	CV2332291	single nucleotide variant	NM_018429.3(BDP1):c.5623G>A (p.Asp1875Asn)	not specified [RCV004182461]	uncertain significance	5	71524174	71524174	Human		name
155913826	CV2341866	single nucleotide variant	NM_018429.3(BDP1):c.3919G>A (p.Glu1307Lys)	not specified [RCV004184816]	uncertain significance	5	71511011	71511011	Human		name
156241634	CV2346929	single nucleotide variant	NM_018429.3(BDP1):c.7796G>A (p.Arg2599Gln)	not specified [RCV004202382]	likely benign	5	71564806	71564806	Human		name
156199745	CV2362895	single nucleotide variant	NM_018429.3(BDP1):c.7826C>G (p.Ser2609Cys)	not specified [RCV004209003]	uncertain significance	5	71564836	71564836	Human		name
156169617	CV2373911	single nucleotide variant	NM_018429.3(BDP1):c.3910A>G (p.Lys1304Glu)	not specified [RCV004224842]	uncertain significance	5	71511002	71511002	Human		name
156182802	CV2382161	single nucleotide variant	NM_018429.3(BDP1):c.3466G>A (p.Glu1156Lys)	not specified [RCV004228118]	uncertain significance	5	71510558	71510558	Human		name
156344309	CV2384784	single nucleotide variant	NM_018429.3(BDP1):c.6676A>G (p.Asn2226Asp)	not specified [RCV004232547]	uncertain significance	5	71545151	71545151	Human		name
155904240	CV2385449	single nucleotide variant	NM_018429.3(BDP1):c.3866A>T (p.Asn1289Ile)	not specified [RCV004233101]	likely benign	5	71510958	71510958	Human		name
156267428	CV2389310	single nucleotide variant	NM_018429.3(BDP1):c.6140T>C (p.Ile2047Thr)	not specified [RCV004235622]	uncertain significance	5	71541571	71541571	Human		name
156164486	CV2389700	single nucleotide variant	NM_018429.3(BDP1):c.6967G>C (p.Val2323Leu)	not specified [RCV004243749]	uncertain significance	5	71549578	71549578	Human		name
156001208	CV2391870	single nucleotide variant	NM_018429.3(BDP1):c.3296C>G (p.Ser1099Cys)	not specified [RCV004235743]	uncertain significance	5	71510388	71510388	Human		name
156221156	CV2397436	single nucleotide variant	NM_018429.3(BDP1):c.3185C>T (p.Thr1062Met)	not specified [RCV004238951]	uncertain significance	5	71510277	71510277	Human		name
243058869	CV2409488	single nucleotide variant	NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)	Hearing loss, autosomal recessive 112 [RCV003143778]	uncertain significance	5	71532423	71532423	Human	1	name
329388642	CV2447723	single nucleotide variant	NM_018429.3(BDP1):c.3977C>T (p.Thr1326Ile)	not specified [RCV004258510]	uncertain significance	5	71511069	71511069	Human		name
329351851	CV2455388	single nucleotide variant	NM_018429.3(BDP1):c.4832A>G (p.Asp1611Gly)	not specified [RCV004274881]	uncertain significance	5	71516243	71516243	Human		name
329396461	CV2462691	single nucleotide variant	NM_018429.3(BDP1):c.4410A>T (p.Lys1470Asn)	not specified [RCV004278624]	uncertain significance	5	71513347	71513347	Human		name
401719310	CV2679491	single nucleotide variant	NM_018429.3(BDP1):c.3260T>G (p.Ile1087Arg)	not specified [RCV004287796]	likely benign	5	71510352	71510352	Human		name
401769797	CV2689949	single nucleotide variant	NM_018429.3(BDP1):c.3718G>T (p.Val1240Leu)	not specified [RCV004297835]	uncertain significance	5	71510810	71510810	Human		name
401729687	CV2690443	single nucleotide variant	NM_018429.3(BDP1):c.4074A>C (p.Glu1358Asp)	not specified [RCV004304215]	uncertain significance	5	71512255	71512255	Human		name
401720845	CV2702151	single nucleotide variant	NM_018429.3(BDP1):c.6213T>A (p.Ser2071Arg)	not specified [RCV004314503]	uncertain significance	5	71541644	71541644	Human		name
401751193	CV2716317	single nucleotide variant	NM_018429.3(BDP1):c.5287T>G (p.Leu1763Val)	not specified [RCV004325315]	uncertain significance	5	71522849	71522849	Human		name
401779441	CV2718551	single nucleotide variant	NM_018429.3(BDP1):c.7342G>C (p.Gly2448Arg)	not specified [RCV004318352]	uncertain significance	5	71560083	71560083	Human		name
401759966	CV2718664	single nucleotide variant	NM_018429.3(BDP1):c.4759G>A (p.Gly1587Arg)	not specified [RCV004328431]	uncertain significance	5	71516170	71516170	Human		name
401764561	CV2721378	single nucleotide variant	NM_018429.3(BDP1):c.4652C>T (p.Thr1551Ile)	not specified [RCV004322127]	uncertain significance	5	71516063	71516063	Human		name
401774676	CV2728234	single nucleotide variant	NM_018429.3(BDP1):c.4063A>G (p.Ile1355Val)	not specified [RCV004326055]	uncertain significance	5	71512244	71512244	Human		name
401830099	CV2743978	single nucleotide variant	NM_018429.3(BDP1):c.4671C>A (p.Phe1557Leu)	BDP1-related disorder [RCV003919055]\|not provided [RCV003327155]	likely benign	5	71516082	71516082	Human	1	name , trait , alternate_id
401879299	CV2758264	single nucleotide variant	NM_018429.3(BDP1):c.7588C>T (p.Arg2530Cys)	not specified [RCV004341622]	uncertain significance	5	71562365	71562365	Human		name
401867974	CV2767121	single nucleotide variant	NM_018429.3(BDP1):c.5449A>G (p.Ile1817Val)	not specified [RCV004347522]	uncertain significance	5	71524000	71524000	Human		name
401887991	CV2768941	single nucleotide variant	NM_018429.3(BDP1):c.7207T>G (p.Ser2403Ala)	not specified [RCV004347039]	uncertain significance	5	71556892	71556892	Human		name
401876316	CV2789354	single nucleotide variant	NM_018429.3(BDP1):c.4103A>G (p.Glu1368Gly)	not specified [RCV004365372]	uncertain significance	5	71512284	71512284	Human		name
401877475	CV2790183	single nucleotide variant	NM_018429.3(BDP1):c.3457A>G (p.Ile1153Val)	not specified [RCV004364106]	uncertain significance	5	71510549	71510549	Human		name
401917718	CV2827806	single nucleotide variant	NM_018429.3(BDP1):c.3161T>C (p.Val1054Ala)	not provided [RCV003429665]\|not specified [RCV004887723]	likely benign\|uncertain significance	5	71510253	71510253	Human		name
401961596	CV2843917	single nucleotide variant	NM_018429.3(BDP1):c.4342G>A (p.Ala1448Thr)	BDP1-related disorder [RCV004758276]\|not provided [RCV003481756]	uncertain significance	5	71513279	71513279	Human	1	name , trait , alternate_id
401961597	CV2843918	single nucleotide variant	NM_018429.3(BDP1):c.5573C>G (p.Pro1858Arg)	not provided [RCV003481757]\|not specified [RCV004604954]	uncertain significance	5	71524124	71524124	Human		name
405287281	CV3217265	single nucleotide variant	NM_018429.3(BDP1):c.3105A>G (p.Ile1035Met)	BDP1-related disorder [RCV003981806]	likely benign	5	71510197	71510197	Human		name , trait , alternate_id
405290380	CV3219821	single nucleotide variant	NM_018429.3(BDP1):c.4065T>G (p.Ile1355Met)	BDP1-related disorder [RCV003962257]	likely benign	5	71512246	71512246	Human		name , trait , alternate_id
405281615	CV3224240	single nucleotide variant	NM_018429.3(BDP1):c.4613C>G (p.Ala1538Gly)	Hearing loss, autosomal recessive 112 [RCV003988622]	not provided	5	71515086	71515086	Human		name
405727335	CV3298087	single nucleotide variant	NM_018429.3(BDP1):c.3018T>A (p.Asp1006Glu)	not specified [RCV004428908]	uncertain significance	5	71510110	71510110	Human		name
405727345	CV3298088	single nucleotide variant	NM_018429.3(BDP1):c.3268G>T (p.Asp1090Tyr)	not specified [RCV004428909]	uncertain significance	5	71510360	71510360	Human		name
405727351	CV3298089	single nucleotide variant	NM_018429.3(BDP1):c.3391A>G (p.Thr1131Ala)	not specified [RCV004428910]	uncertain significance	5	71510483	71510483	Human		name
405727360	CV3298090	single nucleotide variant	NM_018429.3(BDP1):c.3409G>A (p.Ala1137Thr)	not specified [RCV004428911]	uncertain significance	5	71510501	71510501	Human		name
405727380	CV3298092	single nucleotide variant	NM_018429.3(BDP1):c.4040T>C (p.Val1347Ala)	not specified [RCV004428913]	uncertain significance	5	71511132	71511132	Human		name
405727389	CV3298093	single nucleotide variant	NM_018429.3(BDP1):c.4459C>A (p.Pro1487Thr)	not specified [RCV004428914]	uncertain significance	5	71513396	71513396	Human		name
405727396	CV3298094	single nucleotide variant	NM_018429.3(BDP1):c.4507A>G (p.Thr1503Ala)	not specified [RCV004428915]	uncertain significance	5	71514980	71514980	Human		name
405727410	CV3298096	single nucleotide variant	NM_018429.3(BDP1):c.4904C>G (p.Ala1635Gly)	not specified [RCV004428917]	uncertain significance	5	71517365	71517365	Human		name
405727417	CV3298097	single nucleotide variant	NM_018429.3(BDP1):c.4948C>A (p.Leu1650Ile)	not specified [RCV004428918]	uncertain significance	5	71517409	71517409	Human		name
405727426	CV3298098	single nucleotide variant	NM_018429.3(BDP1):c.5200G>A (p.Ala1734Thr)	not specified [RCV004428919]	likely benign	5	71522762	71522762	Human		name
405727436	CV3298099	single nucleotide variant	NM_018429.3(BDP1):c.5242T>C (p.Cys1748Arg)	not specified [RCV004428920]	uncertain significance	5	71522804	71522804	Human		name
405727443	CV3298100	single nucleotide variant	NM_018429.3(BDP1):c.5530C>T (p.Arg1844Cys)	not specified [RCV004428921]	uncertain significance	5	71524081	71524081	Human		name
405727452	CV3298101	single nucleotide variant	NM_018429.3(BDP1):c.5750A>G (p.Gln1917Arg)	not specified [RCV004428922]	uncertain significance	5	71524301	71524301	Human		name
405727460	CV3298102	single nucleotide variant	NM_018429.3(BDP1):c.5830C>G (p.Leu1944Val)	not specified [RCV004428923]	uncertain significance	5	71532365	71532365	Human		name
405727472	CV3298103	single nucleotide variant	NM_018429.3(BDP1):c.6029T>C (p.Val2010Ala)	not specified [RCV004428924]	uncertain significance	5	71541460	71541460	Human		name
405727480	CV3298104	single nucleotide variant	NM_018429.3(BDP1):c.6178G>A (p.Val2060Ile)	not specified [RCV004428925]	uncertain significance	5	71541609	71541609	Human		name
405727506	CV3298106	single nucleotide variant	NM_018429.3(BDP1):c.6383C>A (p.Thr2128Asn)	not specified [RCV004428927]	uncertain significance	5	71542236	71542236	Human		name
405727516	CV3298107	single nucleotide variant	NM_018429.3(BDP1):c.6459C>G (p.Asn2153Lys)	not specified [RCV004428928]	uncertain significance	5	71544403	71544403	Human		name
405727535	CV3298109	single nucleotide variant	NM_018429.3(BDP1):c.7201G>A (p.Val2401Met)	not specified [RCV004428930]	uncertain significance	5	71556886	71556886	Human		name
405727541	CV3298110	single nucleotide variant	NM_018429.3(BDP1):c.7349G>T (p.Arg2450Ile)	not specified [RCV004428931]	uncertain significance	5	71560090	71560090	Human		name
405727552	CV3298111	single nucleotide variant	NM_018429.3(BDP1):c.7721A>T (p.Asn2574Ile)	not specified [RCV004428932]	uncertain significance	5	71562498	71562498	Human		name
407472486	CV3427469	single nucleotide variant	NM_018429.3(BDP1):c.6118C>G (p.Gln2040Glu)	not specified [RCV004600129]	uncertain significance	5	71541549	71541549	Human		name
407472493	CV3427470	single nucleotide variant	NM_018429.3(BDP1):c.5237A>C (p.Lys1746Thr)	not specified [RCV004600130]	uncertain significance	5	71522799	71522799	Human		name
407472498	CV3427471	single nucleotide variant	NM_018429.3(BDP1):c.3122A>G (p.Glu1041Gly)	not specified [RCV004600131]	likely benign	5	71510214	71510214	Human		name
407472509	CV3427473	single nucleotide variant	NM_018429.3(BDP1):c.3460T>A (p.Ser1154Thr)	not specified [RCV004600133]	uncertain significance	5	71510552	71510552	Human		name
407499946	CV3427474	single nucleotide variant	NM_018429.3(BDP1):c.4030T>A (p.Phe1344Ile)	not specified [RCV004607023]	uncertain significance	5	71511122	71511122	Human		name
407472512	CV3427475	single nucleotide variant	NM_018429.3(BDP1):c.3227A>G (p.Lys1076Arg)	not specified [RCV004600134]	uncertain significance	5	71510319	71510319	Human		name
407472517	CV3427476	single nucleotide variant	NM_018429.3(BDP1):c.5282C>T (p.Ala1761Val)	not specified [RCV004600135]	uncertain significance	5	71522844	71522844	Human		name
407472522	CV3427477	single nucleotide variant	NM_018429.3(BDP1):c.6510T>G (p.Cys2170Trp)	not specified [RCV004600136]	uncertain significance	5	71544454	71544454	Human		name
407472531	CV3427480	single nucleotide variant	NM_018429.3(BDP1):c.4156A>T (p.Ile1386Phe)	not specified [RCV004600138]	uncertain significance	5	71512337	71512337	Human		name
408367307	CV3509742	single nucleotide variant	NM_018429.3(BDP1):c.7294A>G (p.Thr2432Ala)	BDP1-related disorder [RCV004758352]	likely benign	5	71560035	71560035	Human		name , trait , alternate_id
597737414	CV3639875	single nucleotide variant	NM_018429.3(BDP1):c.4898C>T (p.Ser1633Leu)	not specified [RCV004889891]	uncertain significance	5	71517359	71517359	Human		name
597737418	CV3639876	single nucleotide variant	NM_018429.3(BDP1):c.3880G>A (p.Gly1294Arg)	not specified [RCV004889892]	likely benign	5	71510972	71510972	Human		name
597737428	CV3639878	single nucleotide variant	NM_018429.3(BDP1):c.4811G>A (p.Gly1604Glu)	not specified [RCV004889894]	likely benign	5	71516222	71516222	Human		name
597737432	CV3639879	single nucleotide variant	NM_018429.3(BDP1):c.4306A>T (p.Ser1436Cys)	not specified [RCV004889895]	uncertain significance	5	71513243	71513243	Human		name
597737442	CV3639882	single nucleotide variant	NM_018429.3(BDP1):c.3755T>C (p.Ile1252Thr)	not specified [RCV004889897]	uncertain significance	5	71510847	71510847	Human		name
597737455	CV3639885	single nucleotide variant	NM_018429.3(BDP1):c.6748A>G (p.Thr2250Ala)	not specified [RCV004889900]	uncertain significance	5	71548685	71548685	Human		name
597737464	CV3639887	single nucleotide variant	NM_018429.3(BDP1):c.7706C>T (p.Thr2569Ile)	not specified [RCV004889902]	uncertain significance	5	71562483	71562483	Human		name
597737473	CV3639889	single nucleotide variant	NM_018429.3(BDP1):c.4621C>A (p.Gln1541Lys)	not specified [RCV004889904]	uncertain significance	5	71515094	71515094	Human		name
597737477	CV3639890	single nucleotide variant	NM_018429.3(BDP1):c.7262A>G (p.Asp2421Gly)	not specified [RCV004889905]	likely benign	5	71560003	71560003	Human		name
597737482	CV3639892	single nucleotide variant	NM_018429.3(BDP1):c.6068A>G (p.His2023Arg)	not specified [RCV004889906]	uncertain significance	5	71541499	71541499	Human		name
597737487	CV3639893	single nucleotide variant	NM_018429.3(BDP1):c.4051G>C (p.Asp1351His)	not specified [RCV004889907]	uncertain significance	5	71511143	71511143	Human		name
597737492	CV3639894	single nucleotide variant	NM_018429.3(BDP1):c.7058A>G (p.Asp2353Gly)	not specified [RCV004889908]	uncertain significance	5	71553178	71553178	Human		name
597737496	CV3639895	single nucleotide variant	NM_018429.3(BDP1):c.5186T>A (p.Leu1729His)	not specified [RCV004889909]	uncertain significance	5	71522483	71522483	Human		name
597737500	CV3639896	single nucleotide variant	NM_018429.3(BDP1):c.3476G>A (p.Gly1159Asp)	not specified [RCV004889910]	uncertain significance	5	71510568	71510568	Human		name
597737504	CV3639897	single nucleotide variant	NM_018429.3(BDP1):c.5219T>C (p.Leu1740Pro)	not specified [RCV004889911]	uncertain significance	5	71522781	71522781	Human		name
597737509	CV3639898	single nucleotide variant	NM_018429.3(BDP1):c.3262G>A (p.Glu1088Lys)	not specified [RCV004889912]	uncertain significance	5	71510354	71510354	Human		name
597737523	CV3639902	single nucleotide variant	NM_018429.3(BDP1):c.5948C>A (p.Thr1983Asn)	not specified [RCV004889915]	uncertain significance	5	71539575	71539575	Human		name
597737533	CV3639904	single nucleotide variant	NM_018429.3(BDP1):c.7300G>A (p.Glu2434Lys)	not specified [RCV004889917]	uncertain significance	5	71560041	71560041	Human		name
597737537	CV3639905	single nucleotide variant	NM_018429.3(BDP1):c.3518T>G (p.Leu1173Trp)	not specified [RCV004889918]	uncertain significance	5	71510610	71510610	Human		name
597737542	CV3639906	single nucleotide variant	NM_018429.3(BDP1):c.7097C>T (p.Ser2366Phe)	not specified [RCV004889919]	uncertain significance	5	71553217	71553217	Human		name
597737547	CV3639907	single nucleotide variant	NM_018429.3(BDP1):c.4001C>T (p.Thr1334Ile)	not specified [RCV004889920]	uncertain significance	5	71511093	71511093	Human		name
597737552	CV3639908	single nucleotide variant	NM_018429.3(BDP1):c.6013C>A (p.Gln2005Lys)	not specified [RCV004889921]	uncertain significance	5	71539640	71539640	Human		name
597737556	CV3639909	single nucleotide variant	NM_018429.3(BDP1):c.5122C>G (p.Gln1708Glu)	not specified [RCV004889922]	uncertain significance	5	71522419	71522419	Human		name
597737561	CV3639911	single nucleotide variant	NM_018429.3(BDP1):c.3202G>A (p.Gly1068Arg)	not specified [RCV004889923]	uncertain significance	5	71510294	71510294	Human		name
597737565	CV3639912	single nucleotide variant	NM_018429.3(BDP1):c.4343C>G (p.Ala1448Gly)	not specified [RCV004889924]	uncertain significance	5	71513280	71513280	Human		name
597737569	CV3639913	single nucleotide variant	NM_018429.3(BDP1):c.4392G>T (p.Lys1464Asn)	not specified [RCV004889925]	uncertain significance	5	71513329	71513329	Human		name
597737574	CV3639914	single nucleotide variant	NM_018429.3(BDP1):c.6909T>A (p.Asp2303Glu)	not specified [RCV004889926]	uncertain significance	5	71549520	71549520	Human		name
598126358	CV3881880	single nucleotide variant	NM_018429.3(BDP1):c.3982A>G (p.Thr1328Ala)	not provided [RCV005233432]	uncertain significance	5	71511074	71511074	Human		name
598276674	CV3938750	single nucleotide variant	NM_018429.3(BDP1):c.6385A>G (p.Lys2129Glu)	not specified [RCV005305808]	uncertain significance	5	71542238	71542238	Human		name
598276676	CV3938752	single nucleotide variant	NM_018429.3(BDP1):c.4683G>A (p.Met1561Ile)	not specified [RCV005305810]	uncertain significance	5	71516094	71516094	Human		name
598276679	CV3938756	single nucleotide variant	NM_018429.3(BDP1):c.4523A>G (p.Asn1508Ser)	not specified [RCV005305813]	uncertain significance	5	71514996	71514996	Human		name
598201858	CV3938761	single nucleotide variant	NM_018429.3(BDP1):c.5965T>G (p.Leu1989Val)	not specified [RCV005314323]	uncertain significance	5	71539592	71539592	Human		name
598276683	CV3938763	single nucleotide variant	NM_018429.3(BDP1):c.7073C>T (p.Pro2358Leu)	not specified [RCV005305817]	uncertain significance	5	71553193	71553193	Human		name
598276685	CV3938765	single nucleotide variant	NM_018429.3(BDP1):c.6157T>C (p.Ser2053Pro)	not specified [RCV005305819]	uncertain significance	5	71541588	71541588	Human		name
598201863	CV3938767	single nucleotide variant	NM_018429.3(BDP1):c.5392C>G (p.Pro1798Ala)	not specified [RCV005314324]	uncertain significance	5	71523943	71523943	Human		name
598201869	CV3938768	single nucleotide variant	NM_018429.3(BDP1):c.5554A>G (p.Lys1852Glu)	not specified [RCV005314325]	uncertain significance	5	71524105	71524105	Human		name
598201880	CV3938770	single nucleotide variant	NM_018429.3(BDP1):c.3623C>T (p.Ser1208Leu)	not specified [RCV005314327]	uncertain significance	5	71510715	71510715	Human		name
598276687	CV3938771	single nucleotide variant	NM_018429.3(BDP1):c.6924C>G (p.Phe2308Leu)	not specified [RCV005305821]	likely benign	5	71549535	71549535	Human		name
598276688	CV3938772	single nucleotide variant	NM_018429.3(BDP1):c.3028A>T (p.Thr1010Ser)	not specified [RCV005305822]	uncertain significance	5	71510120	71510120	Human		name
598201885	CV3938773	single nucleotide variant	NM_018429.3(BDP1):c.3460T>C (p.Ser1154Pro)	not specified [RCV005314328]	uncertain significance	5	71510552	71510552	Human		name
598201889	CV3938774	single nucleotide variant	NM_018429.3(BDP1):c.6367T>G (p.Ser2123Ala)	not specified [RCV005314329]	uncertain significance	5	71542220	71542220	Human		name
598201894	CV3938775	single nucleotide variant	NM_018429.3(BDP1):c.6907G>A (p.Asp2303Asn)	not specified [RCV005314330]	uncertain significance	5	71549518	71549518	Human		name
598276691	CV3938779	single nucleotide variant	NM_018429.3(BDP1):c.3448A>G (p.Arg1150Gly)	not specified [RCV005305825]	uncertain significance	5	71510540	71510540	Human		name
598276694	CV3938782	single nucleotide variant	NM_018429.3(BDP1):c.7847T>C (p.Ile2616Thr)	not specified [RCV005305828]	uncertain significance	5	71564857	71564857	Human		name
13536291	CV500913	single nucleotide variant	NM_018429.3(BDP1):c.3538G>A (p.Gly1180Ser)	Hearing loss, autosomal recessive 112 [RCV001554056]\|not provided [RCV004716569]\|not specified [RCV000608787]	benign	5	71510630	71510630	Human	1	name
13535662	CV500915	single nucleotide variant	NM_018429.3(BDP1):c.3730T>A (p.Phe1244Ile)	Hearing loss, autosomal recessive 112 [RCV001554057]\|not provided [RCV004716573]\|not specified [RCV000602496]	benign	5	71510822	71510822	Human	1	name
13533049	CV500930	single nucleotide variant	NM_018429.3(BDP1):c.7738A>G (p.Thr2580Ala)	not provided [RCV000991581]\|not specified [RCV000601554]	benign	5	71562515	71562515	Human		name
13534874	CV501230	single nucleotide variant	NM_018429.3(BDP1):c.5006C>A (p.Pro1669Gln)	not provided [RCV004716581]\|not specified [RCV000602034]	benign	5	71522303	71522303	Human		name
13537861	CV501234	single nucleotide variant	NM_018429.3(BDP1):c.5845G>A (p.Val1949Met)	not provided [RCV001697952]\|not specified [RCV004887658]	likely benign\|uncertain significance	5	71532380	71532380	Human		name
13527398	CV501245	single nucleotide variant	NM_018429.3(BDP1):c.6962A>G (p.Lys2321Arg)	not provided [RCV000991579]\|not specified [RCV000599742]	benign	5	71549573	71549573	Human		name
13535739	CV501384	single nucleotide variant	NM_018429.3(BDP1):c.3065G>A (p.Arg1022Lys)	not provided [RCV001719055]	benign\|likely benign	5	71510157	71510157	Human		name
13536879	CV501387	single nucleotide variant	NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met)	Hearing loss, autosomal recessive 112 [RCV001554058]\|not provided [RCV004717684]\|not specified [RCV000609614]	benign	5	71510884	71510884	Human	1	name
13539251	CV501394	single nucleotide variant	NM_018429.3(BDP1):c.7258C>G (p.Gln2420Glu)	BDP1-related disorder [RCV003905621]\|not provided [RCV001697994]	likely benign	5	71559999	71559999	Human	1	name , trait , alternate_id
13540285	CV501621	single nucleotide variant	NM_018429.3(BDP1):c.4039G>A (p.Val1347Met)	Hearing loss, autosomal recessive 112 [RCV001554059]\|not provided [RCV004716574]\|not specified [RCV000614486]	benign	5	71511131	71511131	Human	1	name
13537664	CV501630	single nucleotide variant	NM_018429.3(BDP1):c.4405A>G (p.Lys1469Glu)	Hearing loss, autosomal recessive 112 [RCV001554061]\|not provided [RCV004716578]\|not specified [RCV000610717]	benign	5	71513342	71513342	Human	1	name
13525373	CV501633	single nucleotide variant	NM_018429.3(BDP1):c.5026C>G (p.Gln1676Glu)	not provided [RCV000991578]\|not specified [RCV000603072]	benign	5	71522323	71522323	Human		name
13537991	CV501636	single nucleotide variant	NM_018429.3(BDP1):c.6037A>C (p.Ile2013Leu)	Hearing loss, autosomal recessive 112 [RCV001554217]\|not provided [RCV004716570]\|not specified [RCV000611188]	benign	5	71541468	71541468	Human	1	name
13808249	CV576824	single nucleotide variant	NM_018429.3(BDP1):c.3416A>T (p.Glu1139Val)	not provided [RCV000710727]\|not specified [RCV004026791]	uncertain significance	5	71510508	71510508	Human		name
13831369	CV590117	single nucleotide variant	NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu)	Hearing loss, autosomal recessive 112 [RCV000735423]\|not provided [RCV001759443]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity	5	71564883	71564883	Human	1	name
14743399	CV655674	single nucleotide variant	NM_018429.3(BDP1):c.4966G>A (p.Val1656Ile)	not provided [RCV000842027]	likely benign	5	71517427	71517427	Human		name
14745522	CV655675	single nucleotide variant	NM_018429.3(BDP1):c.5031G>C (p.Met1677Ile)	not provided [RCV000843463]	benign	5	71522328	71522328	Human		name
14746380	CV655676	single nucleotide variant	NM_018429.3(BDP1):c.5548C>T (p.Arg1850Trp)	BDP1-related disorder [RCV003918313]\|not provided [RCV000844385]	benign\|likely benign	5	71524099	71524099	Human	1	name , trait , alternate_id
14744671	CV655680	single nucleotide variant	NM_018429.3(BDP1):c.7664A>G (p.Asn2555Ser)	BDP1-related disorder [RCV003975359]\|not provided [RCV000842902]	benign	5	71562441	71562441	Human	1	name , trait , alternate_id
21072993	CV793096	single nucleotide variant	NM_018429.3(BDP1):c.7573G>A (p.Val2525Ile)	not provided [RCV000991580]	uncertain significance	5	71562350	71562350	Human		name
8631684	CV86888	single nucleotide variant	NM_018429.2(BDP1):c.3086T>C (p.Ile1029Thr)	Malignant melanoma [RCV000066979]	not provided	5	71510178	71510178	Human		name
41406682	CV982559	single nucleotide variant	NM_018429.3(BDP1):c.5972C>G (p.Thr1991Arg)	not provided [RCV001288810]	uncertain significance	5	71539599	71539599	Human		name
150512186	CV1242900	insertion	NM_018429.3(BDP1):c.5772+217_5772+218insAAT	not provided [RCV001661254]	benign	5	71524540	71524541	Human		name
150492872	CV1281473	insertion	NM_018429.3(BDP1):c.6564-133_6564-132insAGAA	not provided [RCV001716894]	benign	5	71544904	71544905	Human		name
150542727	CV1306589	microsatellite	NM_018429.3(BDP1):c.6564-133_6564-132insAAGAA	not provided [RCV001769653]	likely benign	5	71544904	71544905	Human		name
150532864	CV1308165	microsatellite	NM_018429.3(BDP1):c.6564-133_6564-132insAAAGAA	not provided [RCV001753156]	likely benign	5	71544904	71544905	Human		name
21072975	CV793095	microsatellite	NM_018429.3(BDP1):c.3877_3880del (p.Arg1293fs)	not provided [RCV000991576]	uncertain significance	5	71510963	71510966	Human		name
150556895	CV1307612	deletion	NM_018429.3(BDP1):c.7354_7356del (p.Pro2452del)	not provided [RCV001774890]	likely benign	5	71560093	71560095	Human		name
11525872	CV246990	deletion	NM_018429.3(BDP1):c.4112_4114del (p.Arg1371del)	not specified [RCV000238999]	uncertain significance	5	71512291	71512293	Human		name
408367357	CV3511847	deletion	NM_018429.3(BDP1):c.3586_3588del (p.Ile1196del)	BDP1-related disorder [RCV004758433]	uncertain significance	5	71510676	71510678	Human		name , trait , alternate_id

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