Pdzd7 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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1001 records found for search term Pdzd7

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150536900	CV1303886	single nucleotide variant	NM_001195263.2(PDZD7):c.-5C>A	not provided [RCV001763989]	uncertain significance	10	101030224	101030224	Human		name
150515800	CV1227672	single nucleotide variant	NM_001195263.2(PDZD7):c.-86A>G	not provided [RCV001638947]	benign	10	101030305	101030305	Human		name
150435625	CV1244467	single nucleotide variant	NM_001195263.2(PDZD7):c.*44G>A	not provided [RCV001665458]	likely benign	10	101008423	101008423	Human		name
127311562	CV1140927	single nucleotide variant	NM_001195263.2(PDZD7):c.226+9G>A	not provided [RCV001501639]	likely benign	10	101029985	101029985	Human		name
151754600	CV1391370	single nucleotide variant	NM_001195263.2(PDZD7):c.368-4G>A	not provided [RCV001969543]	likely benign\|uncertain significance	10	101023614	101023614	Human		name
151775407	CV1427382	single nucleotide variant	NM_001195263.2(PDZD7):c.226+5G>A	not provided [RCV001864466]	uncertain significance	10	101029989	101029989	Human		name
151752031	CV1459133	single nucleotide variant	NM_001195263.2(PDZD7):c.868-5C>A	not provided [RCV002043382]	likely benign\|uncertain significance	10	101020683	101020683	Human		name
151828366	CV1468503	single nucleotide variant	NM_001195263.2(PDZD7):c.929-2A>G	not provided [RCV002030558]	likely pathogenic	10	101019219	101019219	Human		name
151789069	CV1488971	single nucleotide variant	NM_001195263.2(PDZD7):c.928+1G>A	Hearing loss, autosomal recessive 57 [RCV003155458]\|not provided [RCV002010510]	likely pathogenic	10	101020617	101020617	Human	1	name
152136355	CV1580250	single nucleotide variant	NM_001195263.2(PDZD7):c.226+8C>A	not provided [RCV002156191]	likely benign	10	101029986	101029986	Human		name
152089803	CV1654735	single nucleotide variant	NM_001195263.2(PDZD7):c.719+7G>A	not provided [RCV002212568]	likely benign	10	101022202	101022202	Human		name
152100042	CV1664061	single nucleotide variant	NM_001195263.2(PDZD7):c.368-8T>C	not provided [RCV002078867]	likely benign	10	101023618	101023618	Human		name
156011323	CV1991949	single nucleotide variant	NM_001195263.2(PDZD7):c.929-8C>T	not provided [RCV002618919]	likely benign	10	101019225	101019225	Human		name
156049003	CV2059973	single nucleotide variant	NM_001195263.2(PDZD7):c.720-5C>T	not provided [RCV002796701]	likely benign	10	101021950	101021950	Human		name
405167034	CV2900895	single nucleotide variant	NM_001195263.2(PDZD7):c.868-4C>G	not provided [RCV003562824]	likely benign	10	101020682	101020682	Human		name
597929444	CV3780118	single nucleotide variant	NM_001195263.2(PDZD7):c.720-2A>C	not provided [RCV005116438]	likely pathogenic	10	101021947	101021947	Human		name
8609070	CV55376	single nucleotide variant	NM_001195263.2(PDZD7):c.367+7A>G	Hearing loss, autosomal recessive 57 [RCV001787834]\|Usher syndrome type 2C [RCV001787833]\|not provided [RCV000842815]\|not specified [RCV000039455]	benign	10	101023921	101023921	Human	3	name
26922023	CV852228	single nucleotide variant	NM_001195263.2(PDZD7):c.543-3C>T	not provided [RCV001051282]	uncertain significance	10	101022388	101022388	Human		name
126910430	CV1053296	duplication	NM_001195263.2(PDZD7):c.1522+2dup	Hearing impairment [RCV001375149]\|not provided [RCV001865873]	uncertain significance	10	101018096	101018097	Human	2	name
127252019	CV1076855	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-4G>T	not provided [RCV001417955]	likely benign	10	101012262	101012262	Human		name
127257091	CV1076856	single nucleotide variant	NM_001195263.2(PDZD7):c.867+19G>A	not provided [RCV001419180]	likely benign	10	101021779	101021779	Human		name
127235381	CV1098503	single nucleotide variant	NM_001195263.2(PDZD7):c.720-16G>A	not provided [RCV001433085]	likely benign	10	101021961	101021961	Human		name
127275639	CV1098504	single nucleotide variant	NM_001195263.2(PDZD7):c.720-17C>T	not provided [RCV001443402]	likely benign	10	101021962	101021962	Human		name
127333526	CV1120084	single nucleotide variant	NM_001195263.2(PDZD7):c.1841+7G>A	not provided [RCV001472993]	likely benign	10	101012160	101012160	Human		name
127312614	CV1120087	single nucleotide variant	NM_001195263.2(PDZD7):c.929-13C>T	not provided [RCV001457178]	likely benign	10	101019230	101019230	Human		name
127306555	CV1156336	single nucleotide variant	NM_001195263.2(PDZD7):c.368-20A>G	not provided [RCV001516673]	benign\|likely benign	10	101023630	101023630	Human		name
150425757	CV1184312	deletion	NM_001195263.2(PDZD7):c.367+51del	not provided [RCV001558436]	likely benign	10	101023877	101023877	Human		name
150458039	CV1202703	single nucleotide variant	NM_001195263.2(PDZD7):c.719+52G>T	not provided [RCV001586356]	likely benign	10	101022157	101022157	Human		name
150458035	CV1269575	single nucleotide variant	NM_001195263.2(PDZD7):c.542+48C>G	not provided [RCV001693115]	benign	10	101023388	101023388	Human		name
151829746	CV1362434	single nucleotide variant	NM_001195263.2(PDZD7):c.1325-7T>G	not provided [RCV001993598]	uncertain significance	10	101018303	101018303	Human		name
151828997	CV1400760	single nucleotide variant	NM_001195263.2(PDZD7):c.227-14C>A	not provided [RCV001976464]	likely benign\|uncertain significance	10	101024082	101024082	Human		name
151804630	CV1432398	single nucleotide variant	NM_001195263.2(PDZD7):c.1573+4A>T	not provided [RCV001991265]	uncertain significance	10	101016373	101016373	Human		name
151880589	CV1437016	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-1G>A	not provided [RCV001999509]	likely pathogenic	10	101010884	101010884	Human		name
151799688	CV1497813	single nucleotide variant	NM_001195263.2(PDZD7):c.720-17C>A	not provided [RCV001952804]	likely benign\|uncertain significance	10	101021962	101021962	Human		name
152169539	CV1529248	single nucleotide variant	NM_001195263.2(PDZD7):c.867+11C>T	not provided [RCV002161478]	likely benign	10	101021787	101021787	Human		name
152169700	CV1538673	single nucleotide variant	NM_001195263.2(PDZD7):c.227-20C>G	not provided [RCV002182891]	likely benign	10	101024088	101024088	Human		name
152098134	CV1542374	single nucleotide variant	NM_001195263.2(PDZD7):c.543-15C>T	not provided [RCV002195190]	likely benign	10	101022400	101022400	Human		name
152138271	CV1549496	single nucleotide variant	NM_001195263.2(PDZD7):c.867+18G>C	not provided [RCV002156420]	likely benign	10	101021780	101021780	Human		name
152111433	CV1552432	single nucleotide variant	NM_001195263.2(PDZD7):c.227-20C>T	not provided [RCV002134535]	likely benign	10	101024088	101024088	Human		name
152145535	CV1553796	single nucleotide variant	NM_001195263.2(PDZD7):c.543-12G>A	not provided [RCV002138753]	likely benign	10	101022397	101022397	Human		name
152068872	CV1562087	single nucleotide variant	NM_001195263.2(PDZD7):c.543-18C>T	not provided [RCV002169031]	likely benign	10	101022403	101022403	Human		name
152088829	CV1562993	deletion	NM_001195263.2(PDZD7):c.543-14del	not provided [RCV002113787]	benign	10	101022399	101022399	Human		name
152165362	CV1611335	single nucleotide variant	NM_001195263.2(PDZD7):c.2719-4C>G	not provided [RCV002141704]	likely benign	10	101008854	101008854	Human		name
152166231	CV1620848	single nucleotide variant	NM_001195263.2(PDZD7):c.929-12T>C	not provided [RCV002181892]	likely benign	10	101019229	101019229	Human		name
152147269	CV1635607	single nucleotide variant	NM_001195263.2(PDZD7):c.543-17C>G	not provided [RCV002201421]	likely benign	10	101022402	101022402	Human		name
156203999	CV1877929	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-2A>G	Hearing loss, autosomal recessive 57 [RCV003147814]\|not provided [RCV003058264]	likely pathogenic\|uncertain significance	10	101012260	101012260	Human	1	name
10050413	CV191885	single nucleotide variant	NM_001195263.2(PDZD7):c.2719-9C>A	PDZD7-related disorder [RCV004552968]\|not provided [RCV000175156]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	101008859	101008859	Human		name , alternate_id
156350119	CV2008703	single nucleotide variant	NM_001195263.2(PDZD7):c.867+17G>A	not provided [RCV002720122]	likely benign	10	101021781	101021781	Human		name
155951964	CV2014043	single nucleotide variant	NM_001195263.2(PDZD7):c.227-13C>G	not provided [RCV002686069]	likely benign	10	101024081	101024081	Human		name
155952332	CV2058833	single nucleotide variant	NM_001195263.2(PDZD7):c.928+21A>T	not provided [RCV002816335]	likely benign	10	101020597	101020597	Human		name
155939924	CV2067991	single nucleotide variant	NM_001195263.2(PDZD7):c.1574-5T>A	not provided [RCV002839336]	uncertain significance	10	101015816	101015816	Human		name
155936596	CV2149989	single nucleotide variant	NM_001195263.2(PDZD7):c.928+14A>T	not provided [RCV003013982]	likely benign	10	101020604	101020604	Human		name
156195687	CV2158842	single nucleotide variant	NM_001195263.2(PDZD7):c.543-18C>G	not provided [RCV003041795]	likely benign	10	101022403	101022403	Human		name
156235448	CV2180731	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+6C>T	not provided [RCV003043249]	uncertain significance	10	101015630	101015630	Human		name
156200127	CV2182778	single nucleotide variant	NM_001195263.2(PDZD7):c.1842-5C>G	not provided [RCV003024421]	likely benign	10	101012021	101012021	Human		name
156364843	CV2187163	single nucleotide variant	NM_001195263.2(PDZD7):c.2618-5A>G	not provided [RCV003065881]	likely benign	10	101009355	101009355	Human		name
11550193	CV253662	deletion	NM_001195263.2(PDZD7):c.928+20del	Hearing loss, autosomal recessive 57 [RCV001788105]\|Usher syndrome type 2C [RCV001788104]\|not provided [RCV000842816]\|not specified [RCV000251422]	benign	10	101020598	101020598	Human	3	name
401942952	CV2839932	single nucleotide variant	NM_001195263.2(PDZD7):c.1841+2T>A	not provided [RCV003456719]	pathogenic	10	101012165	101012165	Human		name
405219139	CV2968670	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-4C>G	not provided [RCV003680309]	likely benign	10	101010887	101010887	Human		name
405245016	CV2972641	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+7C>T	not provided [RCV003684953]	likely benign	10	101015629	101015629	Human		name
402491805	CV2981131	single nucleotide variant	NM_001195263.2(PDZD7):c.928+20C>G	not provided [RCV003713848]	likely benign	10	101020598	101020598	Human		name
405191727	CV2984868	single nucleotide variant	NM_001195263.2(PDZD7):c.868-16A>C	not provided [RCV003706525]	likely benign	10	101020694	101020694	Human		name
402504010	CV3007272	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+2T>G	not provided [RCV003688789]	likely pathogenic	10	101015634	101015634	Human		name
405161172	CV3153041	single nucleotide variant	NM_001195263.2(PDZD7):c.867+19G>T	not provided [RCV003840776]	likely benign	10	101021779	101021779	Human		name
408377795	CV3503128	single nucleotide variant	NM_001195263.2(PDZD7):c.1933+1G>A	not provided [RCV004727699]	pathogenic	10	101011924	101011924	Human		name
597934031	CV3777003	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+8T>G	not provided [RCV005117162]	likely benign	10	101015628	101015628	Human		name
597879701	CV3786928	single nucleotide variant	NM_001195263.2(PDZD7):c.719+19A>G	not provided [RCV005124004]	likely benign	10	101022190	101022190	Human		name
597852121	CV3805644	single nucleotide variant	NM_001195263.2(PDZD7):c.929-20G>A	not provided [RCV005145574]	likely benign	10	101019237	101019237	Human		name
597915344	CV3817659	single nucleotide variant	NM_001195263.2(PDZD7):c.1842-7C>T	not provided [RCV005154861]	likely benign	10	101012023	101012023	Human		name
597883663	CV3834802	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-8T>C	not provided [RCV005178525]	likely benign	10	101010891	101010891	Human		name
597950096	CV3846854	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+2T>C	not provided [RCV005190025]	likely pathogenic	10	101018097	101018097	Human		name
14744524	CV664785	single nucleotide variant	NM_001195263.2(PDZD7):c.928+63C>A	not provided [RCV000842817]	benign	10	101020555	101020555	Human		name
26916081	CV851764	single nucleotide variant	NM_001195263.2(PDZD7):c.1325-3C>T	not provided [RCV001039860]	uncertain significance	10	101018299	101018299	Human		name
34891395	CV904534	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-2A>G	not provided [RCV001172040]	likely pathogenic	10	101010885	101010885	Human		name
126745255	CV993647	single nucleotide variant	NM_001195263.2(PDZD7):c.2719-3T>G	not provided [RCV001296438]	uncertain significance	10	101008853	101008853	Human		name
126764966	CV993648	single nucleotide variant	NM_001195263.2(PDZD7):c.2718+9A>G	not provided [RCV001301301]	likely benign\|uncertain significance	10	101009241	101009241	Human		name
126737207	CV1017243	deletion	NM_001195263.2(PDZD7):c.1325-22del	Deafness, autosomal recessive 57 [RCV001328700]	pathogenic	10	101018318	101018318	Human		name
127303858	CV1120083	single nucleotide variant	NM_001195263.2(PDZD7):c.1842-12G>A	not provided [RCV001462030]	likely benign	10	101012028	101012028	Human		name
150433045	CV1203523	single nucleotide variant	NM_001195263.2(PDZD7):c.1933+46G>C	not provided [RCV001581678]	likely benign	10	101011879	101011879	Human		name
150443855	CV1205184	single nucleotide variant	NM_001195263.2(PDZD7):c.929-281G>A	not provided [RCV001584027]	likely benign	10	101019498	101019498	Human		name
150514543	CV1212048	single nucleotide variant	NM_001195263.2(PDZD7):c.2617+25G>A	not provided [RCV001599117]	likely benign	10	101010247	101010247	Human		name
150499783	CV1224655	deletion	NM_001195263.2(PDZD7):c.543-212del	not provided [RCV001620486]	benign	10	101022597	101022597	Human		name
150455927	CV1236813	deletion	NM_001195263.2(PDZD7):c.1749+43del	Hearing loss, autosomal recessive 57 [RCV001788674]\|Usher syndrome type 2C [RCV001788673]\|not provided [RCV001648549]	benign	10	101015593	101015593	Human	3	name
150475612	CV1239763	single nucleotide variant	NM_001195263.2(PDZD7):c.227-130A>G	not provided [RCV001651940]	benign	10	101024198	101024198	Human		name
150435537	CV1244438	single nucleotide variant	NM_001195263.2(PDZD7):c.1934-24T>C	not provided [RCV001665429]	likely benign	10	101011785	101011785	Human		name
152160340	CV1522831	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+19C>T	not provided [RCV002140810]	likely benign	10	101015617	101015617	Human		name
152051710	CV1528076	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+19A>G	not provided [RCV002089242]	likely benign	10	101018080	101018080	Human		name
152109801	CV1530135	single nucleotide variant	NM_001195263.2(PDZD7):c.2618-20G>A	not provided [RCV002196616]	likely benign	10	101009370	101009370	Human		name
152142458	CV1538234	single nucleotide variant	NM_001195263.2(PDZD7):c.2617+11G>T	not provided [RCV002219555]	likely benign	10	101010261	101010261	Human		name
152069266	CV1562322	single nucleotide variant	NM_001195263.2(PDZD7):c.1841+19G>C	not provided [RCV002169080]	likely benign	10	101012148	101012148	Human		name
152175945	CV1580214	single nucleotide variant	NM_001195263.2(PDZD7):c.2718+10G>A	not provided [RCV002164083]	likely benign	10	101009240	101009240	Human		name
152050341	CV1585718	single nucleotide variant	NM_001195263.2(PDZD7):c.1324+11G>C	not provided [RCV002145610]	likely benign	10	101018811	101018811	Human		name
152069473	CV1589209	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+12T>A	not provided [RCV002209792]	likely benign	10	101015624	101015624	Human		name
152170069	CV1592245	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+19C>G	not provided [RCV002161646]	likely benign	10	101015617	101015617	Human		name
152150594	CV1598136	single nucleotide variant	NM_001195263.2(PDZD7):c.1842-14T>C	not provided [RCV002121684]	likely benign	10	101012030	101012030	Human		name
152172111	CV1598981	single nucleotide variant	NM_001195263.2(PDZD7):c.1842-13C>T	not provided [RCV002143666]	likely benign	10	101012029	101012029	Human		name
152089229	CV1633966	deletion	NM_001195263.2(PDZD7):c.1324+11del	not provided [RCV002194079]	benign	10	101018811	101018811	Human		name
152056690	CV1635089	single nucleotide variant	NM_001195263.2(PDZD7):c.1324+20C>T	not provided [RCV002089794]	likely benign	10	101018802	101018802	Human		name
152129389	CV1637462	single nucleotide variant	NM_001195263.2(PDZD7):c.2617+16A>C	not provided [RCV002217855]	likely benign	10	101010256	101010256	Human		name
152028362	CV1642760	single nucleotide variant	NM_001195263.2(PDZD7):c.1933+14G>C	not provided [RCV002185811]	benign	10	101011911	101011911	Human		name
152045190	CV1647685	deletion	NM_001195263.2(PDZD7):c.1574-20del	not provided [RCV002071514]	likely benign	10	101015831	101015831	Human		name
152110804	CV1651083	single nucleotide variant	NM_001195263.2(PDZD7):c.1325-16T>A	not provided [RCV002134459]	likely benign	10	101018312	101018312	Human		name
152090193	CV1654796	single nucleotide variant	NM_001195263.2(PDZD7):c.1573+12A>G	not provided [RCV002212619]	likely benign	10	101016365	101016365	Human		name
156394888	CV1983720	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-16C>T	not provided [RCV002605048]	likely benign	10	101012274	101012274	Human		name
156371688	CV1993517	single nucleotide variant	NM_001195263.2(PDZD7):c.2617+11G>A	not provided [RCV002652950]	likely benign	10	101010261	101010261	Human		name
156111227	CV1998488	single nucleotide variant	NM_001195263.2(PDZD7):c.1841+19G>T	not provided [RCV002639947]	likely benign	10	101012148	101012148	Human		name
156284107	CV2012653	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-11C>T	not provided [RCV002715397]	likely benign	10	101010894	101010894	Human		name
156274834	CV2014883	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-18C>G	not provided [RCV002715104]	likely benign	10	101010901	101010901	Human		name
155961794	CV2023725	single nucleotide variant	NM_001195263.2(PDZD7):c.2719-10C>T	not provided [RCV002731210]	likely benign	10	101008860	101008860	Human		name
156238940	CV2028004	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+16A>G	not provided [RCV002745593]	likely benign	10	101015620	101015620	Human		name
156197948	CV2066684	single nucleotide variant	NM_001195263.2(PDZD7):c.1324+16G>A	not provided [RCV002828836]	likely benign	10	101018806	101018806	Human		name
155951745	CV2080803	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+10C>G	not provided [RCV002880542]	likely benign	10	101015626	101015626	Human		name
156190165	CV2086716	single nucleotide variant	NM_001195263.2(PDZD7):c.2718+19G>T	not provided [RCV002852111]	likely benign	10	101009231	101009231	Human		name
156051872	CV2140981	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+17T>A	not provided [RCV002999901]	likely benign	10	101015619	101015619	Human		name
156351924	CV2157611	single nucleotide variant	NM_001195263.2(PDZD7):c.2618-17T>C	not provided [RCV003030938]	likely benign	10	101009367	101009367	Human		name
156234632	CV2180632	single nucleotide variant	NM_001195263.2(PDZD7):c.1324+10G>A	not provided [RCV003043220]	likely benign	10	101018812	101018812	Human		name
405191010	CV2988060	single nucleotide variant	NM_001195263.2(PDZD7):c.1523-20A>C	not provided [RCV003706415]	likely benign	10	101016447	101016447	Human		name
402506382	CV3038991	single nucleotide variant	NM_001195263.2(PDZD7):c.1574-18A>G	not provided [RCV003715156]	likely benign	10	101015829	101015829	Human		name
405252429	CV3047230	single nucleotide variant	NM_001195263.2(PDZD7):c.1933+10G>C	not provided [RCV003722214]	likely benign	10	101011915	101011915	Human		name
405185491	CV3124213	single nucleotide variant	NM_001195263.2(PDZD7):c.2718+20G>A	not provided [RCV003820412]	likely benign	10	101009230	101009230	Human		name
405213860	CV3127633	single nucleotide variant	NM_001195263.2(PDZD7):c.1933+11G>C	not provided [RCV003823681]	likely benign	10	101011914	101011914	Human		name
405293099	CV3221270	single nucleotide variant	NM_001195263.2(PDZD7):c.1325-15C>G	PDZD7-related disorder [RCV004554420]	likely benign	10	101018311	101018311	Human		name , trait , alternate_id
597839683	CV3737058	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+14C>G	not provided [RCV005064538]	likely benign	10	101015622	101015622	Human		name
597832052	CV3740107	single nucleotide variant	NM_001195263.2(PDZD7):c.1574-11C>T	not provided [RCV005062806]	likely benign	10	101015822	101015822	Human		name
597953073	CV3756976	single nucleotide variant	NM_001195263.2(PDZD7):c.1523-14T>G	not provided [RCV005079837]	likely benign	10	101016441	101016441	Human		name
597889782	CV3788142	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+19C>A	not provided [RCV005125500]	likely benign	10	101015617	101015617	Human		name
597908495	CV3806325	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-15G>A	not provided [RCV005153892]	likely benign	10	101010898	101010898	Human		name
597831761	CV3830750	single nucleotide variant	NM_001195263.2(PDZD7):c.1574-14T>C	not provided [RCV005170148]	likely benign	10	101015825	101015825	Human		name
14746043	CV664494	single nucleotide variant	NM_001195263.2(PDZD7):c.868-203T>G	not provided [RCV000844020]	benign	10	101020881	101020881	Human		name
14744526	CV664544	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+88G>C	not provided [RCV000842818]	benign	10	101018011	101018011	Human		name
14732739	CV664768	single nucleotide variant	NM_001195263.2(PDZD7):c.1934-55C>T	Hearing loss, autosomal recessive 57 [RCV001788370]\|Usher syndrome type 2C [RCV001788369]\|not provided [RCV000836773]	benign	10	101011816	101011816	Human	3	name
14719363	CV664779	single nucleotide variant	NM_001195263.2(PDZD7):c.928+110C>T	not provided [RCV000830741]	benign	10	101020508	101020508	Human		name
14707106	CV664793	single nucleotide variant	NM_001195263.2(PDZD7):c.543-167T>G	not provided [RCV000826732]	benign	10	101022552	101022552	Human		name
150337093	CV1172038	deletion	NM_001195263.2(PDZD7):c.1522+704del	not provided [RCV001541405]	benign	10	101017395	101017395	Human		name
150412161	CV1191021	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-110C>G	not provided [RCV001566856]	likely benign	10	101012368	101012368	Human		name
150416126	CV1191022	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+547G>A	not provided [RCV001568297]	likely benign	10	101017552	101017552	Human		name
150415853	CV1191023	duplication	NM_001195263.2(PDZD7):c.1522+224dup	not provided [RCV001568169]	likely benign	10	101017874	101017875	Human		name
150477842	CV1203248	duplication	NM_001195263.2(PDZD7):c.1522+232dup	not provided [RCV001589842]	likely benign	10	101017866	101017867	Human		name
150441417	CV1204547	single nucleotide variant	NM_001195263.2(PDZD7):c.2618-290A>C	not provided [RCV001583654]	likely benign	10	101009640	101009640	Human		name
150470522	CV1219261	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+187C>A	not provided [RCV001615013]	benign	10	101017912	101017912	Human		name
150482201	CV1221014	single nucleotide variant	NM_001195263.2(PDZD7):c.1749+188A>G	not provided [RCV001617099]	benign	10	101015448	101015448	Human		name
150505149	CV1222821	single nucleotide variant	NM_001195263.2(PDZD7):c.2617+319T>C	not provided [RCV001621755]	benign	10	101009953	101009953	Human	1	name
150487423	CV1225906	duplication	NM_001195263.2(PDZD7):c.1522+301dup	not provided [RCV001618067]	benign	10	101017786	101017787	Human		name
150467443	CV1255907	deletion	NM_001195263.2(PDZD7):c.1522+207del	not provided [RCV001670541]	benign	10	101017892	101017892	Human		name
150446378	CV1261355	duplication	NM_001195263.2(PDZD7):c.1522+228dup	not provided [RCV001680029]	benign	10	101017870	101017871	Human		name
150440287	CV1266893	single nucleotide variant	NM_001195263.2(PDZD7):c.2005+244A>G	not provided [RCV001690329]	benign	10	101011446	101011446	Human		name
401724514	CV2735731	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+452T>G	not provided [RCV003312174]	benign	10	101017647	101017647	Human		name
616939484	CV4013976	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+391G>A	not provided [RCV005413468]	likely benign	10	101017708	101017708	Human		name
14746061	CV663984	single nucleotide variant	NM_001195263.2(PDZD7):c.2006-313T>G	not provided [RCV000844038]	benign	10	101011196	101011196	Human		name
14721488	CV663986	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-241C>T	not provided [RCV000831690]	benign	10	101012499	101012499	Human		name
14746048	CV663989	single nucleotide variant	NM_001195263.2(PDZD7):c.1523-214G>C	not provided [RCV000844025]	benign	10	101016641	101016641	Human		name
14744528	CV663991	single nucleotide variant	NM_001195263.2(PDZD7):c.1522+395A>G	not provided [RCV000842819]	benign	10	101017704	101017704	Human		name
14721550	CV664489	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-196T>C	not provided [RCV000831719]	benign	10	101012454	101012454	Human		name
14746058	CV664493	single nucleotide variant	NM_001195263.2(PDZD7):c.1750-268T>G	not provided [RCV000844035]	benign	10	101012526	101012526	Human		name
14707110	CV664540	single nucleotide variant	NM_001195263.2(PDZD7):c.1574-148C>T	not provided [RCV000826733]	benign	10	101015959	101015959	Human		name
14746041	CV664798	single nucleotide variant	NM_001195263.2(PDZD7):c.-165-311A>G	not provided [RCV000844018]	benign	10	101030695	101030695	Human		name
150331316	CV1169362	microsatellite	NM_001195263.2(PDZD7):c.1749+144CA[12]	not provided [RCV001536427]	benign	10	101015465	101015468	Human		name
150501261	CV1238351	microsatellite	NM_001195263.2(PDZD7):c.1749+144CA[11]	not provided [RCV001656781]	benign	10	101015465	101015470	Human		name
152980340	CV1675911	deletion	NM_001195263.2(PDZD7):c.2618-6_2619del	not provided [RCV002244502]	likely pathogenic	10	101009349	101009356	Human		name
405228891	CV3180449	single nucleotide variant	NM_001195263.2(PDZD7):c.6G>T (p.Ala2=)	not provided [RCV003864870]	likely benign	10	101030214	101030214	Human		name
150434896	CV1206861	microsatellite	NM_001195263.2(PDZD7):c.1522+260CCTT[3]	not provided [RCV001582210]	likely benign	10	101017824	101017827	Human		name
150485564	CV1274107	microsatellite	NM_001195263.2(PDZD7):c.1522+260CCTT[2]	not provided [RCV001698746]	benign	10	101017824	101017831	Human		name
152176421	CV1594193	single nucleotide variant	NM_001195263.2(PDZD7):c.18A>G (p.Ala6=)	not provided [RCV002164566]	likely benign	10	101030202	101030202	Human		name
155978889	CV2028640	single nucleotide variant	NM_001195263.2(PDZD7):c.15C>T (p.Phe5=)	not provided [RCV002755232]	likely benign	10	101030205	101030205	Human		name
405202694	CV3143684	single nucleotide variant	NM_001195263.2(PDZD7):c.24C>T (p.Gly8=)	not provided [RCV003844670]	likely benign	10	101030196	101030196	Human		name
14708828	CV664536	microsatellite	NM_001195263.2(PDZD7):c.2006-179ATAA[4]	not provided [RCV000830762]	benign	10	101011050	101011051	Human		name
151813443	CV1382722	single nucleotide variant	NM_001195263.2(PDZD7):c.5C>A (p.Ala2Glu)	not provided [RCV002049077]	uncertain significance	10	101030215	101030215	Human		name
151808057	CV1417819	single nucleotide variant	NM_001195263.2(PDZD7):c.1A>G (p.Met1Val)	not provided [RCV001867738]	uncertain significance	10	101030219	101030219	Human		name
152035758	CV1553044	single nucleotide variant	NM_001195263.2(PDZD7):c.60C>G (p.Gly20=)	not provided [RCV002187457]	likely benign	10	101030160	101030160	Human		name
152143157	CV1556855	single nucleotide variant	NM_001195263.2(PDZD7):c.60C>T (p.Gly20=)	not provided [RCV002200839]	likely benign	10	101030160	101030160	Human		name
405159211	CV2961003	single nucleotide variant	NM_001195263.2(PDZD7):c.57C>T (p.Ser19=)	not provided [RCV003670490]	likely benign	10	101030163	101030163	Human		name
405745817	CV3226313	microsatellite	NM_001195263.2(PDZD7):c.2005+6_2005+9del	Hearing loss, autosomal recessive 57 [RCV003991304]\|Retinal dystrophy [RCV004818446]	uncertain significance	10	101011681	101011684	Human		name
597966726	CV3794305	single nucleotide variant	NM_001195263.2(PDZD7):c.72C>G (p.Ser24=)	not provided [RCV005140481]	likely benign	10	101030148	101030148	Human		name
597881607	CV3810623	single nucleotide variant	NM_001195263.2(PDZD7):c.99C>T (p.Ser33=)	not provided [RCV005149892]	likely benign	10	101030121	101030121	Human		name
597914097	CV3833882	single nucleotide variant	NM_001195263.2(PDZD7):c.78C>T (p.Ser26=)	not provided [RCV005183241]	likely benign	10	101030142	101030142	Human		name
15189730	CV737292	single nucleotide variant	NM_001195263.2(PDZD7):c.39C>A (p.Gly13=)	not provided [RCV000909740]	likely benign	10	101030181	101030181	Human		name
127249306	CV1098506	single nucleotide variant	NM_001195263.2(PDZD7):c.150G>A (p.Leu50=)	not provided [RCV001436065]	likely benign	10	101030070	101030070	Human		name
127333046	CV1120090	single nucleotide variant	NM_001195263.2(PDZD7):c.255T>C (p.His85=)	not provided [RCV001472642]	likely benign	10	101024040	101024040	Human		name
151712056	CV1396775	single nucleotide variant	NM_001195263.2(PDZD7):c.22G>A (p.Gly8Ser)	not provided [RCV001889589]	uncertain significance	10	101030198	101030198	Human		name
152037734	CV1572240	single nucleotide variant	NM_001195263.2(PDZD7):c.198C>A (p.Arg66=)	not provided [RCV002205866]	likely benign	10	101030022	101030022	Human		name
152132737	CV1630272	single nucleotide variant	NM_001195263.2(PDZD7):c.105A>T (p.Ser35=)	not provided [RCV002177017]	likely benign	10	101030115	101030115	Human		name
152096721	CV1636362	single nucleotide variant	NM_001195263.2(PDZD7):c.198C>T (p.Arg66=)	not provided [RCV002132732]	likely benign	10	101030022	101030022	Human		name
152151197	CV1658718	single nucleotide variant	NM_001195263.2(PDZD7):c.213C>T (p.Asn71=)	not provided [RCV002139540]	likely benign	10	101030007	101030007	Human		name
156054100	CV1928624	single nucleotide variant	NM_001195263.2(PDZD7):c.159G>T (p.Gly53=)	not provided [RCV002620710]	likely benign	10	101030061	101030061	Human		name
156337433	CV1976951	deletion	NM_001195263.2(PDZD7):c.2618-12_2618-9del	not provided [RCV002601106]	likely benign	10	101009359	101009362	Human		name
156112461	CV2008710	single nucleotide variant	NM_001195263.2(PDZD7):c.204C>T (p.Ile68=)	not provided [RCV002695724]	likely benign	10	101030016	101030016	Human		name
155941395	CV2055003	deletion	NM_001195263.2(PDZD7):c.82del (p.Arg28fs)	not provided [RCV002815719]	pathogenic	10	101030138	101030138	Human		name
156164695	CV2056557	single nucleotide variant	NM_001195263.2(PDZD7):c.13T>A (p.Phe5Ile)	not provided [RCV002801759]	uncertain significance	10	101030207	101030207	Human		name
155999445	CV2057339	single nucleotide variant	NM_001195263.2(PDZD7):c.23G>A (p.Gly8Asp)	not provided [RCV002819578]	uncertain significance	10	101030197	101030197	Human		name
156201948	CV2092536	single nucleotide variant	NM_001195263.2(PDZD7):c.20T>C (p.Val7Ala)	not provided [RCV002917818]	uncertain significance	10	101030200	101030200	Human		name
155912018	CV2148340	deletion	NM_001195263.2(PDZD7):c.2618-10_2618-9del	not provided [RCV002991390]	likely benign	10	101009359	101009360	Human		name
597713468	CV3579297	single nucleotide variant	NM_001195263.2(PDZD7):c.16G>T (p.Ala6Ser)	Inborn genetic diseases [RCV004959445]	uncertain significance	10	101030204	101030204	Human	1	name
597890029	CV3762820	single nucleotide variant	NM_001195263.2(PDZD7):c.285G>A (p.Gly95=)	not provided [RCV005110593]	likely benign	10	101024010	101024010	Human		name
597837574	CV3828832	single nucleotide variant	NM_001195263.2(PDZD7):c.120G>A (p.Thr40=)	not provided [RCV005171525]	likely benign	10	101030100	101030100	Human		name
8609067	CV55373	single nucleotide variant	NM_001195263.2(PDZD7):c.156C>T (p.Asn52=)	not provided [RCV000879616]\|not specified [RCV000039452]	benign\|likely benign	10	101030064	101030064	Human		name
8609068	CV55374	single nucleotide variant	NM_001195263.2(PDZD7):c.159G>C (p.Gly53=)	PDZD7-related disorder [RCV004549456]\|not provided [RCV000712517]\|not specified [RCV000039453]	benign	10	101030061	101030061	Human		name , alternate_id
15197588	CV751906	single nucleotide variant	NM_001195263.2(PDZD7):c.168C>G (p.Arg56=)	not provided [RCV000912015]	benign\|likely benign	10	101030052	101030052	Human		name
38462967	CV940163	deletion	NM_001195263.2(PDZD7):c.1574-45_1574-3del	not provided [RCV001212276]	uncertain significance	10	101015814	101015856	Human		name
126919670	CV1046389	single nucleotide variant	NM_001195263.2(PDZD7):c.83G>A (p.Arg28Gln)	not provided [RCV001373367]	uncertain significance	10	101030137	101030137	Human		name
127240679	CV1076857	single nucleotide variant	NM_001195263.2(PDZD7):c.831G>A (p.Val277=)	not provided [RCV001392969]	likely benign	10	101021834	101021834	Human		name
127260295	CV1076858	single nucleotide variant	NM_001195263.2(PDZD7):c.582C>T (p.Cys194=)	not provided [RCV001402154]	likely benign	10	101022346	101022346	Human		name
127258536	CV1076859	single nucleotide variant	NM_001195263.2(PDZD7):c.519G>A (p.Lys173=)	not provided [RCV001401707]	likely benign	10	101023459	101023459	Human		name
127262645	CV1076860	single nucleotide variant	NM_001195263.2(PDZD7):c.414G>A (p.Gly138=)	not provided [RCV001402698]	likely benign	10	101023564	101023564	Human		name
127258042	CV1076861	single nucleotide variant	NM_001195263.2(PDZD7):c.384C>T (p.Cys128=)	not provided [RCV001419472]	likely benign	10	101023594	101023594	Human		name
127240091	CV1098491	microsatellite	NM_001195263.2(PDZD7):c.2719-16_2719-13del	not provided [RCV001423236]	likely benign	10	101008863	101008866	Human		name
127273264	CV1098502	single nucleotide variant	NM_001195263.2(PDZD7):c.963C>T (p.Ala321=)	not provided [RCV001442468]	likely benign	10	101019183	101019183	Human		name
127275986	CV1098505	single nucleotide variant	NM_001195263.2(PDZD7):c.621C>G (p.Val207=)	not provided [RCV001432589]	likely benign	10	101022307	101022307	Human		name
127309169	CV1120088	single nucleotide variant	NM_001195263.2(PDZD7):c.672C>T (p.Phe224=)	not provided [RCV001456237]	likely benign	10	101022256	101022256	Human		name
127308409	CV1120089	single nucleotide variant	NM_001195263.2(PDZD7):c.300C>T (p.Ser100=)	not provided [RCV001463302]	likely benign	10	101023995	101023995	Human		name
127337241	CV1120091	single nucleotide variant	NM_001195263.2(PDZD7):c.53G>A (p.Ser18Asn)	not provided [RCV001475525]	likely benign	10	101030167	101030167	Human		name
127292084	CV1140924	single nucleotide variant	NM_001195263.2(PDZD7):c.939G>A (p.Gly313=)	not provided [RCV001496430]	likely benign	10	101019207	101019207	Human		name
127318844	CV1140925	single nucleotide variant	NM_001195263.2(PDZD7):c.909G>A (p.Glu303=)	not provided [RCV001483637]	likely benign	10	101020637	101020637	Human		name
127315974	CV1140926	single nucleotide variant	NM_001195263.2(PDZD7):c.873C>A (p.Thr291=)	not provided [RCV001482645]	likely benign	10	101020673	101020673	Human		name
127310284	CV1156335	single nucleotide variant	NM_001195263.2(PDZD7):c.786C>T (p.Asn262=)	not provided [RCV001518215]	benign\|likely benign	10	101021879	101021879	Human		name
127301422	CV1156337	single nucleotide variant	NM_001195263.2(PDZD7):c.324C>T (p.Gly108=)	not provided [RCV001514664]	benign\|likely benign	10	101023971	101023971	Human		name
150488805	CV1274335	single nucleotide variant	NM_001195263.2(PDZD7):c.336C>T (p.Phe112=)	not provided [RCV001699955]	likely benign	10	101023959	101023959	Human		name
151750288	CV1359058	single nucleotide variant	NM_001195263.2(PDZD7):c.630C>A (p.Ile210=)	not provided [RCV001969122]	likely benign\|uncertain significance	10	101022298	101022298	Human		name
151755024	CV1391509	single nucleotide variant	NM_001195263.2(PDZD7):c.68G>A (p.Ser23Asn)	not provided [RCV001969582]	uncertain significance	10	101030152	101030152	Human		name
151890430	CV1405177	single nucleotide variant	NM_001195263.2(PDZD7):c.312C>G (p.Gly104=)	not provided [RCV001888408]	likely benign\|uncertain significance	10	101023983	101023983	Human		name
151847486	CV1409637	single nucleotide variant	NM_001195263.2(PDZD7):c.91C>A (p.Leu31Ile)	not provided [RCV001882148]	uncertain significance	10	101030129	101030129	Human		name
151720127	CV1420769	single nucleotide variant	NM_001195263.2(PDZD7):c.54C>A (p.Ser18Arg)	not provided [RCV002039952]	uncertain significance	10	101030166	101030166	Human		name
151828479	CV1465394	single nucleotide variant	NM_001195263.2(PDZD7):c.510G>A (p.Pro170=)	not provided [RCV002014073]	likely benign\|uncertain significance	10	101023468	101023468	Human		name
151881283	CV1475658	single nucleotide variant	NM_001195263.2(PDZD7):c.29A>G (p.Asp10Gly)	not provided [RCV001961710]	uncertain significance	10	101030191	101030191	Human		name
151854660	CV1481765	single nucleotide variant	NM_001195263.2(PDZD7):c.59G>A (p.Gly20Asp)	not provided [RCV002033620]	uncertain significance	10	101030161	101030161	Human		name
151767171	CV1486038	single nucleotide variant	NM_001195263.2(PDZD7):c.894G>A (p.Lys298=)	not provided [RCV002044888]	likely benign\|uncertain significance	10	101020652	101020652	Human		name
151888980	CV1509354	single nucleotide variant	NM_001195263.2(PDZD7):c.741C>A (p.Ala247=)	not provided [RCV001888083]	likely benign\|uncertain significance	10	101021924	101021924	Human		name
152111603	CV1520360	single nucleotide variant	NM_001195263.2(PDZD7):c.732T>A (p.Gly244=)	not provided [RCV002196848]	likely benign	10	101021933	101021933	Human		name
152038243	CV1524133	single nucleotide variant	NM_001195263.2(PDZD7):c.630C>T (p.Ile210=)	PDZD7-related disorder [RCV004553812]\|not provided [RCV002125692]	likely benign	10	101022298	101022298	Human		name , alternate_id
152051252	CV1538596	single nucleotide variant	NM_001195263.2(PDZD7):c.627C>A (p.Arg209=)	not provided [RCV002189443]	likely benign	10	101022301	101022301	Human		name
152088146	CV1541263	single nucleotide variant	NM_001195263.2(PDZD7):c.693G>A (p.Glu231=)	not provided [RCV002171474]	likely benign	10	101022235	101022235	Human		name
152167983	CV1547846	single nucleotide variant	NM_001195263.2(PDZD7):c.370C>A (p.Arg124=)	not provided [RCV002160999]	likely benign	10	101023608	101023608	Human		name
152111360	CV1551416	single nucleotide variant	NM_001195263.2(PDZD7):c.660C>T (p.Phe220=)	not provided [RCV002196819]	likely benign	10	101022268	101022268	Human		name
152173986	CV1567511	single nucleotide variant	NM_001195263.2(PDZD7):c.333C>T (p.Ile111=)	not provided [RCV002144294]	likely benign	10	101023962	101023962	Human		name
152127677	CV1572118	single nucleotide variant	NM_001195263.2(PDZD7):c.714G>A (p.Val238=)	not provided [RCV002217631]	likely benign	10	101022214	101022214	Human		name
152086475	CV1589783	single nucleotide variant	NM_001195263.2(PDZD7):c.834G>T (p.Leu278=)	not provided [RCV002193700]	likely benign	10	101021831	101021831	Human		name
152137769	CV1591895	single nucleotide variant	NM_001195263.2(PDZD7):c.471C>T (p.Ser157=)	not provided [RCV002100348]	likely benign	10	101023507	101023507	Human		name
152041939	CV1624157	single nucleotide variant	NM_001195263.2(PDZD7):c.768C>T (p.Asp256=)	not provided [RCV002126205]	likely benign	10	101021897	101021897	Human		name
152071014	CV1628550	single nucleotide variant	NM_001195263.2(PDZD7):c.741C>T (p.Ala247=)	not provided [RCV002169290]	likely benign	10	101021924	101021924	Human		name
152027427	CV1628673	single nucleotide variant	NM_001195263.2(PDZD7):c.801C>T (p.Asp267=)	not provided [RCV002104889]	likely benign	10	101021864	101021864	Human		name
152167038	CV1632866	single nucleotide variant	NM_001195263.2(PDZD7):c.780A>G (p.Ala260=)	not provided [RCV002182067]	likely benign	10	101021885	101021885	Human		name
152089432	CV1634000	single nucleotide variant	NM_001195263.2(PDZD7):c.528G>A (p.Lys176=)	not provided [RCV002194102]	likely benign	10	101023450	101023450	Human		name
152125755	CV1640689	single nucleotide variant	NM_001195263.2(PDZD7):c.897G>A (p.Glu299=)	not provided [RCV002176157]	likely benign	10	101020649	101020649	Human		name
152173014	CV1641810	single nucleotide variant	NM_001195263.2(PDZD7):c.597C>T (p.Ser199=)	not provided [RCV002184035]	likely benign	10	101022331	101022331	Human		name
152149258	CV1642854	single nucleotide variant	NM_001195263.2(PDZD7):c.954G>A (p.Leu318=)	not provided [RCV002179197]	likely benign	10	101019192	101019192	Human		name
152170504	CV1651130	single nucleotide variant	NM_001195263.2(PDZD7):c.321T>C (p.His107=)	not provided [RCV002143137]	likely benign	10	101023974	101023974	Human		name
152119827	CV1654821	single nucleotide variant	NM_001195263.2(PDZD7):c.732T>G (p.Gly244=)	not provided [RCV002216626]	likely benign	10	101021933	101021933	Human		name
152160258	CV1655611	single nucleotide variant	NM_001195263.2(PDZD7):c.651C>T (p.Ser217=)	not provided [RCV002203309]	likely benign	10	101022277	101022277	Human		name
152067783	CV1660155	single nucleotide variant	NM_001195263.2(PDZD7):c.825G>A (p.Val275=)	not provided [RCV002147665]	likely benign	10	101021840	101021840	Human		name
152067890	CV1660172	single nucleotide variant	NM_001195263.2(PDZD7):c.363T>C (p.Ser121=)	not provided [RCV002147678]	likely benign	10	101023932	101023932	Human		name
152068886	CV1662459	single nucleotide variant	NM_001195263.2(PDZD7):c.744G>A (p.Glu248=)	not provided [RCV002111177]	likely benign	10	101021921	101021921	Human		name
155724026	CV1773586	single nucleotide variant	NM_001195263.2(PDZD7):c.71C>T (p.Ser24Phe)	not provided [RCV002301390]	uncertain significance	10	101030149	101030149	Human		name
155747084	CV1778249	single nucleotide variant	NM_001195263.2(PDZD7):c.90C>G (p.His30Gln)	not provided [RCV002303592]	uncertain significance	10	101030130	101030130	Human		name
155800463	CV1863612	single nucleotide variant	NM_001195263.2(PDZD7):c.565C>T (p.Leu189=)	not provided [RCV002474035]	uncertain significance	10	101022363	101022363	Human		name
155958871	CV1873584	single nucleotide variant	NM_001195263.2(PDZD7):c.736C>T (p.Leu246=)	not provided [RCV003074580]	likely benign	10	101021929	101021929	Human		name
156154099	CV1957470	single nucleotide variant	NM_001195263.2(PDZD7):c.873C>T (p.Thr291=)	not provided [RCV002572996]	likely benign	10	101020673	101020673	Human		name
156213984	CV1963161	single nucleotide variant	NM_001195263.2(PDZD7):c.963C>G (p.Ala321=)	not provided [RCV002575260]	likely benign	10	101019183	101019183	Human		name
156070263	CV1971774	single nucleotide variant	NM_001195263.2(PDZD7):c.381G>C (p.Leu127=)	not provided [RCV002591251]	likely benign	10	101023597	101023597	Human		name
156235585	CV1976849	single nucleotide variant	NM_001195263.2(PDZD7):c.846G>A (p.Thr282=)	not provided [RCV002596967]	likely benign	10	101021819	101021819	Human		name
156381313	CV1978752	single nucleotide variant	NM_001195263.2(PDZD7):c.312C>A (p.Gly104=)	not provided [RCV002603984]	likely benign	10	101023983	101023983	Human		name
156398735	CV1984660	single nucleotide variant	NM_001195263.2(PDZD7):c.891C>T (p.Tyr297=)	not provided [RCV002605397]	likely benign	10	101020655	101020655	Human		name
155992346	CV1990565	single nucleotide variant	NM_001195263.2(PDZD7):c.822C>T (p.Ala274=)	not provided [RCV002618075]	likely benign	10	101021843	101021843	Human		name
156330456	CV1992804	single nucleotide variant	NM_001195263.2(PDZD7):c.540G>A (p.Thr180=)	not provided [RCV002649789]	likely benign	10	101023438	101023438	Human		name
156203703	CV2011072	single nucleotide variant	NM_001195263.2(PDZD7):c.930G>A (p.Leu310=)	not provided [RCV002700367]	likely benign	10	101019216	101019216	Human		name
156379200	CV2050765	single nucleotide variant	NM_001195263.2(PDZD7):c.969G>A (p.Glu323=)	not provided [RCV002814954]	likely benign	10	101019177	101019177	Human		name
156151570	CV2070340	single nucleotide variant	NM_001195263.2(PDZD7):c.952C>T (p.Leu318=)	not provided [RCV002850887]	likely benign	10	101019194	101019194	Human		name
155945777	CV2072613	single nucleotide variant	NM_001195263.2(PDZD7):c.606C>T (p.Ser202=)	not provided [RCV002862055]	likely benign	10	101022322	101022322	Human		name
155950112	CV2084308	single nucleotide variant	NM_001195263.2(PDZD7):c.615T>C (p.Asp205=)	not provided [RCV002880452]	likely benign	10	101022313	101022313	Human		name
156098467	CV2116998	single nucleotide variant	NM_001195263.2(PDZD7):c.633C>T (p.Val211=)	not provided [RCV002952646]	likely benign	10	101022295	101022295	Human		name
156091825	CV2142908	single nucleotide variant	NM_001195263.2(PDZD7):c.28G>A (p.Asp10Asn)	not provided [RCV002979634]	uncertain significance	10	101030192	101030192	Human		name
405123839	CV3021079	single nucleotide variant	NM_001195263.2(PDZD7):c.432C>T (p.Thr144=)	not provided [RCV003701040]	likely benign	10	101023546	101023546	Human		name
405154506	CV3163129	single nucleotide variant	NM_001195263.2(PDZD7):c.450A>G (p.Val150=)	not provided [RCV003856572]	likely benign	10	101023528	101023528	Human		name
402473806	CV3172170	single nucleotide variant	NM_001195263.2(PDZD7):c.402G>A (p.Thr134=)	not provided [RCV003874773]	likely benign	10	101023576	101023576	Human		name
597887943	CV3739189	single nucleotide variant	NM_001195263.2(PDZD7):c.735G>A (p.Gly245=)	not provided [RCV005070736]	likely benign	10	101021930	101021930	Human		name
597862268	CV3745183	single nucleotide variant	NM_001195263.2(PDZD7):c.654C>T (p.Asp218=)	not provided [RCV005067539]	likely benign	10	101022274	101022274	Human		name
597849862	CV3746818	single nucleotide variant	NM_001195263.2(PDZD7):c.447C>T (p.Ala149=)	not provided [RCV005060445]	likely benign	10	101023531	101023531	Human		name
597859994	CV3755933	single nucleotide variant	NM_001195263.2(PDZD7):c.711T>C (p.Tyr237=)	not provided [RCV005089084]	likely benign	10	101022217	101022217	Human		name
597960436	CV3756208	single nucleotide variant	NM_001195263.2(PDZD7):c.948G>A (p.Gln316=)	not provided [RCV005081525]	likely benign	10	101019198	101019198	Human		name
597968581	CV3795060	single nucleotide variant	NM_001195263.2(PDZD7):c.804C>T (p.Asp268=)	not provided [RCV005141028]	likely benign	10	101021861	101021861	Human		name
597882021	CV3810598	single nucleotide variant	NM_001195263.2(PDZD7):c.921G>A (p.Leu307=)	not provided [RCV005149867]	likely benign	10	101020625	101020625	Human		name
597893664	CV3833458	single nucleotide variant	NM_001195263.2(PDZD7):c.777G>A (p.Leu259=)	not provided [RCV005180150]	likely benign	10	101021888	101021888	Human		name
8602384	CV39940	duplication	NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)	Hearing loss, autosomal recessive 57 [RCV000656379]\|Hearing loss, autosomal recessive [RCV004719034]\|Usher syndrome type 2A [RCV000023974]\|Usher syndrome type 2C [RCV004760341]\|not provided [RCV001008540]	pathogenic\|risk factor	10	101030053	101030054	Human	6	name
598260899	CV4002709	single nucleotide variant	NM_001195263.2(PDZD7):c.62C>G (p.Ser21Cys)	Inborn genetic diseases [RCV005386786]	uncertain significance	10	101030158	101030158	Human	1	name
8609069	CV55375	single nucleotide variant	NM_001195263.2(PDZD7):c.306C>T (p.Arg102=)	not provided [RCV002054762]\|not specified [RCV000039454]	likely benign	10	101023989	101023989	Human		name
8609071	CV55377	single nucleotide variant	NM_001195263.2(PDZD7):c.936C>T (p.Asn312=)	not provided [RCV000992517]\|not specified [RCV000039456]	benign	10	101019210	101019210	Human		name
126751180	CV993662	single nucleotide variant	NM_001195263.2(PDZD7):c.92T>C (p.Leu31Pro)	not provided [RCV001297463]	uncertain significance	10	101030128	101030128	Human		name
126757753	CV993663	single nucleotide variant	NM_001195263.2(PDZD7):c.59G>C (p.Gly20Ala)	not provided [RCV001308515]	uncertain significance	10	101030161	101030161	Human		name
126726905	CV993664	single nucleotide variant	NM_001195263.2(PDZD7):c.58G>T (p.Gly20Cys)	not provided [RCV001303028]	uncertain significance	10	101030162	101030162	Human		name
126737203	CV1029411	single nucleotide variant	NM_001195263.2(PDZD7):c.254A>G (p.His85Arg)	not provided [RCV001350322]	uncertain significance	10	101024041	101024041	Human		name
127280495	CV1076852	single nucleotide variant	NM_001195263.2(PDZD7):c.2850C>T (p.Pro950=)	not provided [RCV001409805]	likely benign	10	101008719	101008719	Human		name
127236705	CV1076853	single nucleotide variant	NM_001195263.2(PDZD7):c.2694C>T (p.Ala898=)	not provided [RCV001414722]	likely benign	10	101009274	101009274	Human		name
127232128	CV1076854	single nucleotide variant	NM_001195263.2(PDZD7):c.2040C>T (p.Asn680=)	not provided [RCV001395569]	likely benign	10	101010849	101010849	Human		name
127257865	CV1098489	single nucleotide variant	NM_001195263.2(PDZD7):c.2772C>T (p.His924=)	not provided [RCV001437973]	likely benign	10	101008797	101008797	Human		name
127235244	CV1098490	single nucleotide variant	NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=)	not provided [RCV001433060]	likely benign	10	101008824	101008824	Human		name
127252785	CV1098492	single nucleotide variant	NM_001195263.2(PDZD7):c.2586A>G (p.Thr862=)	not provided [RCV001425888]	likely benign	10	101010303	101010303	Human		name
127274176	CV1098493	single nucleotide variant	NM_001195263.2(PDZD7):c.2127C>T (p.His709=)	not provided [RCV001442824]	likely benign	10	101010762	101010762	Human		name
127239079	CV1098494	single nucleotide variant	NM_001195263.2(PDZD7):c.2019C>T (p.Gly673=)	not provided [RCV001433903]	likely benign	10	101010870	101010870	Human		name
127271664	CV1098495	single nucleotide variant	NM_001195263.2(PDZD7):c.2013C>T (p.Arg671=)	not provided [RCV001441910]	likely benign	10	101010876	101010876	Human		name
127265779	CV1098496	single nucleotide variant	NM_001195263.2(PDZD7):c.1539G>A (p.Pro513=)	not provided [RCV001429197]	likely benign	10	101016411	101016411	Human		name
127266761	CV1098497	single nucleotide variant	NM_001195263.2(PDZD7):c.1456A>C (p.Arg486=)	not provided [RCV001429469]	likely benign	10	101018165	101018165	Human		name
127271791	CV1098498	single nucleotide variant	NM_001195263.2(PDZD7):c.1399C>T (p.Leu467=)	PDZD7-related disorder [RCV004550175]\|not provided [RCV001441953]	likely benign	10	101018222	101018222	Human		name , alternate_id
127275311	CV1098499	single nucleotide variant	NM_001195263.2(PDZD7):c.1362C>T (p.Ser454=)	not provided [RCV001443276]	likely benign	10	101018259	101018259	Human		name
127277446	CV1098500	single nucleotide variant	NM_001195263.2(PDZD7):c.1353G>A (p.Lys451=)	not provided [RCV001444406]	likely benign	10	101018268	101018268	Human		name
127295733	CV1120077	single nucleotide variant	NM_001195263.2(PDZD7):c.2751G>A (p.Glu917=)	not provided [RCV001477157]	likely benign	10	101008818	101008818	Human		name
127295632	CV1120078	single nucleotide variant	NM_001195263.2(PDZD7):c.2598C>T (p.Ser866=)	not provided [RCV001477135]	likely benign	10	101010291	101010291	Human		name
127296159	CV1120079	single nucleotide variant	NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=)	not provided [RCV001452686]	likely benign	10	101010558	101010558	Human		name
127319833	CV1120081	single nucleotide variant	NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=)	not provided [RCV001466691]	likely benign	10	101010636	101010636	Human		name
127319196	CV1120082	single nucleotide variant	NM_001195263.2(PDZD7):c.1875C>T (p.Phe625=)	not provided [RCV001466476]	likely benign	10	101011983	101011983	Human		name
127290379	CV1120085	single nucleotide variant	NM_001195263.2(PDZD7):c.1812G>T (p.Pro604=)	not provided [RCV001458422]	likely benign	10	101012196	101012196	Human		name
127306867	CV1120086	single nucleotide variant	NM_001195263.2(PDZD7):c.1282C>A (p.Arg428=)	not provided [RCV001462873]	likely benign	10	101018864	101018864	Human		name
127287937	CV1140910	single nucleotide variant	NM_001195263.2(PDZD7):c.2832G>A (p.Glu944=)	not provided [RCV001495044]	likely benign	10	101008737	101008737	Human		name
127297579	CV1140911	single nucleotide variant	NM_001195263.2(PDZD7):c.2817C>T (p.Ala939=)	not provided [RCV001497802]	likely benign	10	101008752	101008752	Human		name
127298441	CV1140912	single nucleotide variant	NM_001195263.2(PDZD7):c.2727C>T (p.Phe909=)	PDZD7-related disorder [RCV004550260]\|not provided [RCV001498054]	likely benign	10	101008842	101008842	Human		name , alternate_id
127307043	CV1140913	single nucleotide variant	NM_001195263.2(PDZD7):c.2691G>C (p.Gly897=)	not provided [RCV001500371]	likely benign	10	101009277	101009277	Human		name
127333861	CV1140914	single nucleotide variant	NM_001195263.2(PDZD7):c.2460C>G (p.Pro820=)	not provided [RCV001490422]	likely benign	10	101010429	101010429	Human		name
127318067	CV1140916	single nucleotide variant	NM_001195263.2(PDZD7):c.2313G>A (p.Gln771=)	not provided [RCV001503555]	likely benign	10	101010576	101010576	Human		name
127329503	CV1140917	single nucleotide variant	NM_001195263.2(PDZD7):c.2181C>A (p.Pro727=)	not provided [RCV001487445]	likely benign	10	101010708	101010708	Human		name
127327536	CV1140918	single nucleotide variant	NM_001195263.2(PDZD7):c.2073G>C (p.Leu691=)	not provided [RCV001486389]	likely benign	10	101010816	101010816	Human		name
127293060	CV1140919	single nucleotide variant	NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=)	not provided [RCV001496647]	likely benign	10	101015810	101015810	Human		name
127330499	CV1140920	single nucleotide variant	NM_001195263.2(PDZD7):c.1527G>A (p.Gly509=)	not provided [RCV001488191]	likely benign	10	101016423	101016423	Human		name
127310222	CV1140921	single nucleotide variant	NM_001195263.2(PDZD7):c.1359G>C (p.Gly453=)	not provided [RCV001481092]	likely benign	10	101018262	101018262	Human		name
127324231	CV1140922	single nucleotide variant	NM_001195263.2(PDZD7):c.1293C>T (p.Ile431=)	not provided [RCV001505626]	likely benign	10	101018853	101018853	Human		name
127292126	CV1156333	single nucleotide variant	NM_001195263.2(PDZD7):c.1653T>G (p.Val551=)	not provided [RCV001510727]	benign\|likely benign	10	101015732	101015732	Human		name
150334609	CV1165926	single nucleotide variant	NM_001195263.2(PDZD7):c.1977C>G (p.Pro659=)	not provided [RCV001531079]	likely benign	10	101011718	101011718	Human		name
150431381	CV1243677	single nucleotide variant	NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=)	not provided [RCV001663297]	likely benign	10	101019114	101019114	Human		name
150543198	CV1315137	deletion	NM_001195263.2(PDZD7):c.649del (p.Ser217fs)	not provided [RCV001782593]	likely pathogenic	10	101022279	101022279	Human		name
151840531	CV1345904	single nucleotide variant	NM_001195263.2(PDZD7):c.167G>A (p.Arg56His)	not provided [RCV001902781]	uncertain significance	10	101030053	101030053	Human		name
151821968	CV1355086	deletion	NM_001195263.2(PDZD7):c.432del (p.Thr145fs)	not provided [RCV001934231]	pathogenic	10	101023546	101023546	Human		name
151836313	CV1367153	single nucleotide variant	NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu)	Usher syndrome type 2C [RCV002497945]\|not provided [RCV001994227]	uncertain significance	10	101024038	101024038	Human	1	name
151845531	CV1389866	single nucleotide variant	NM_001195263.2(PDZD7):c.176G>C (p.Arg59Pro)	not provided [RCV001881886]	uncertain significance	10	101030044	101030044	Human		name
151787758	CV1419561	single nucleotide variant	NM_001195263.2(PDZD7):c.109T>C (p.Ser37Pro)	not provided [RCV001951731]	uncertain significance	10	101030111	101030111	Human		name
151886738	CV1441661	duplication	NM_001195263.2(PDZD7):c.918dup (p.Leu307fs)	Hearing loss, autosomal recessive 57 [RCV005253973]\|not provided [RCV001942234]	pathogenic	10	101020627	101020628	Human	1	name
151773929	CV1444272	single nucleotide variant	NM_001195263.2(PDZD7):c.262C>T (p.Arg88Trp)	Inborn genetic diseases [RCV005382249]\|not provided [RCV001896610]	uncertain significance	10	101024033	101024033	Human	1	name
151709502	CV1461083	single nucleotide variant	NM_001195263.2(PDZD7):c.157G>A (p.Gly53Arg)	not provided [RCV001889070]	uncertain significance	10	101030063	101030063	Human		name
151797415	CV1467702	single nucleotide variant	NM_001195263.2(PDZD7):c.176G>A (p.Arg59Gln)	not provided [RCV001952604]	uncertain significance	10	101030044	101030044	Human		name
151787990	CV1479195	single nucleotide variant	NM_001195263.2(PDZD7):c.272A>G (p.Lys91Arg)	not provided [RCV002046818]	uncertain significance	10	101024023	101024023	Human		name
151844096	CV1500023	single nucleotide variant	NM_001195263.2(PDZD7):c.222C>G (p.Ile74Met)	not provided [RCV001921889]	uncertain significance	10	101029998	101029998	Human		name
151719712	CV1500217	single nucleotide variant	NM_001195263.2(PDZD7):c.1758C>T (p.His586=)	not provided [RCV001909534]	likely benign	10	101012250	101012250	Human		name
151783531	CV1508264	single nucleotide variant	NM_001195263.2(PDZD7):c.196C>T (p.Arg66Cys)	not provided [RCV002009957]	uncertain significance	10	101030024	101030024	Human		name
152175219	CV1520779	single nucleotide variant	NM_001195263.2(PDZD7):c.1641G>C (p.Val547=)	not provided [RCV002184786]	likely benign	10	101015744	101015744	Human		name
152117381	CV1522082	single nucleotide variant	NM_001195263.2(PDZD7):c.2904C>A (p.Gly968=)	not provided [RCV002081078]	likely benign	10	101008665	101008665	Human		name
152153252	CV1522958	single nucleotide variant	NM_001195263.2(PDZD7):c.1302C>T (p.Ser434=)	not provided [RCV002179779]	likely benign	10	101018844	101018844	Human		name
152037821	CV1529665	single nucleotide variant	NM_001195263.2(PDZD7):c.1854C>T (p.Ala618=)	not provided [RCV002187797]	likely benign	10	101012004	101012004	Human		name
152162088	CV1543871	single nucleotide variant	NM_001195263.2(PDZD7):c.2781A>G (p.Ala927=)	not provided [RCV002159820]	likely benign	10	101008788	101008788	Human		name
152079231	CV1557851	single nucleotide variant	NM_001195263.2(PDZD7):c.1392C>T (p.Ser464=)	not provided [RCV002170321]	likely benign\|conflicting interpretations of pathogenicity	10	101018229	101018229	Human		name
152163910	CV1560307	single nucleotide variant	NM_001195263.2(PDZD7):c.1998C>T (p.Pro666=)	not provided [RCV002160142]	likely benign	10	101011697	101011697	Human		name
152138389	CV1563521	single nucleotide variant	NM_001195263.2(PDZD7):c.2460C>T (p.Pro820=)	not provided [RCV002200259]	likely benign	10	101010429	101010429	Human		name
152134999	CV1564919	single nucleotide variant	NM_001195263.2(PDZD7):c.2916C>T (p.Asp972=)	not provided [RCV002199828]	likely benign	10	101008653	101008653	Human		name
152076850	CV1565577	single nucleotide variant	NM_001195263.2(PDZD7):c.2847C>A (p.Val949=)	not provided [RCV002148799]	likely benign	10	101008722	101008722	Human		name
152089143	CV1577300	single nucleotide variant	NM_001195263.2(PDZD7):c.2841C>T (p.Val947=)	not provided [RCV002212481]	likely benign	10	101008728	101008728	Human		name
152155356	CV1579623	single nucleotide variant	NM_001195263.2(PDZD7):c.1398G>A (p.Thr466=)	not provided [RCV002158768]	likely benign	10	101018223	101018223	Human		name
152112716	CV1586404	single nucleotide variant	NM_001195263.2(PDZD7):c.1368G>C (p.Gly456=)	not provided [RCV002196994]	likely benign	10	101018253	101018253	Human		name
152044240	CV1588531	single nucleotide variant	NM_001195263.2(PDZD7):c.1581G>A (p.Glu527=)	not provided [RCV002188644]	likely benign	10	101015804	101015804	Human		name
152053405	CV1595816	single nucleotide variant	NM_001195263.2(PDZD7):c.1722G>A (p.Val574=)	not provided [RCV002072656]	likely benign\|conflicting interpretations of pathogenicity	10	101015663	101015663	Human		name
152163460	CV1600859	single nucleotide variant	NM_001195263.2(PDZD7):c.1290C>A (p.Pro430=)	not provided [RCV002141327]	likely benign	10	101018856	101018856	Human		name
152076279	CV1604501	single nucleotide variant	NM_001195263.2(PDZD7):c.2853G>A (p.Gly951=)	not provided [RCV002092262]	likely benign	10	101008716	101008716	Human		name
152077452	CV1604755	single nucleotide variant	NM_001195263.2(PDZD7):c.1215C>T (p.Gly405=)	not provided [RCV002092415]	likely benign	10	101018931	101018931	Human		name
152077728	CV1604842	single nucleotide variant	NM_001195263.2(PDZD7):c.1206C>G (p.Pro402=)	not provided [RCV002092450]	likely benign	10	101018940	101018940	Human		name
152100770	CV1610895	single nucleotide variant	NM_001195263.2(PDZD7):c.1131A>G (p.Gly377=)	not provided [RCV002133249]	likely benign	10	101019015	101019015	Human		name
152081910	CV1612335	single nucleotide variant	NM_001195263.2(PDZD7):c.1716C>T (p.Asp572=)	not provided [RCV002130928]	likely benign	10	101015669	101015669	Human		name
152074847	CV1616554	single nucleotide variant	NM_001195263.2(PDZD7):c.2502G>A (p.Gly834=)	not provided [RCV002210457]	likely benign	10	101010387	101010387	Human		name
152166003	CV1618212	single nucleotide variant	NM_001195263.2(PDZD7):c.1116G>C (p.Thr372=)	not provided [RCV002204358]	likely benign	10	101019030	101019030	Human		name
152140900	CV1618572	single nucleotide variant	NM_001195263.2(PDZD7):c.2397G>T (p.Pro799=)	not provided [RCV002156755]	likely benign	10	101010492	101010492	Human		name
152030474	CV1632174	single nucleotide variant	NM_001195263.2(PDZD7):c.2652G>A (p.Val884=)	not provided [RCV002124336]	likely benign	10	101009316	101009316	Human		name
152085178	CV1633427	single nucleotide variant	NM_001195263.2(PDZD7):c.2691G>A (p.Gly897=)	not provided [RCV002113285]	likely benign	10	101009277	101009277	Human		name
152112182	CV1640529	single nucleotide variant	NM_001195263.2(PDZD7):c.2220C>T (p.Pro740=)	not provided [RCV002174475]	likely benign	10	101010669	101010669	Human		name
152064491	CV1654266	single nucleotide variant	NM_001195263.2(PDZD7):c.1329G>A (p.Glu443=)	not provided [RCV002190960]	likely benign	10	101018292	101018292	Human		name
152047289	CV1656744	single nucleotide variant	NM_001195263.2(PDZD7):c.1929G>A (p.Arg643=)	not provided [RCV002126796]	likely benign	10	101011929	101011929	Human		name
152150853	CV1661704	single nucleotide variant	NM_001195263.2(PDZD7):c.1401G>A (p.Leu467=)	not provided [RCV002179425]	likely benign	10	101018220	101018220	Human		name
152078195	CV1663774	single nucleotide variant	NM_001195263.2(PDZD7):c.2070G>A (p.Glu690=)	not provided [RCV002076018]	likely benign	10	101010819	101010819	Human		name
9688054	CV174583	single nucleotide variant	NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=)	not provided [RCV000888755]\|not specified [RCV000151645]	benign	10	101010732	101010732	Human		name
9689674	CV174584	single nucleotide variant	NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=)	not provided [RCV000959918]\|not specified [RCV000155273]	benign\|likely benign	10	101019138	101019138	Human		name
9688053	CV174858	single nucleotide variant	NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=)	not provided [RCV001513125]\|not specified [RCV000151643]	benign\|likely benign	10	101010351	101010351	Human		name
155746684	CV1771666	single nucleotide variant	NM_001195263.2(PDZD7):c.215C>T (p.Ser72Phe)	not provided [RCV002303441]	uncertain significance	10	101030005	101030005	Human		name
155700026	CV1773055	single nucleotide variant	NM_001195263.2(PDZD7):c.190A>C (p.Met64Leu)	not provided [RCV002295572]	uncertain significance	10	101030030	101030030	Human		name
155797389	CV1863306	deletion	NM_001195263.2(PDZD7):c.668del (p.Gly223fs)	Hearing loss, autosomal recessive 57 [RCV002470580]	pathogenic	10	101022260	101022260	Human	1	name
10049830	CV191005	single nucleotide variant	NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=)	not provided [RCV000174050]	conflicting interpretations of pathogenicity\|uncertain significance	10	101015747	101015747	Human		name
10047770	CV191197	single nucleotide variant	NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=)	not provided [RCV001512703]\|not specified [RCV000174295]	benign\|likely benign	10	101012256	101012256	Human		name
156408994	CV1922141	single nucleotide variant	NM_001195263.2(PDZD7):c.2283T>A (p.Pro761=)	not provided [RCV002607421]	likely benign	10	101010606	101010606	Human		name
156389710	CV1955220	single nucleotide variant	NM_001195263.2(PDZD7):c.2259A>C (p.Thr753=)	not provided [RCV002583759]	likely benign	10	101010630	101010630	Human		name
156243470	CV1956815	single nucleotide variant	NM_001195263.2(PDZD7):c.2181C>G (p.Pro727=)	not provided [RCV002576301]	likely benign	10	101010708	101010708	Human		name
156408312	CV1957797	single nucleotide variant	NM_001195263.2(PDZD7):c.1800C>A (p.Ile600=)	not provided [RCV002586481]	likely benign	10	101012208	101012208	Human		name
156406146	CV1963496	single nucleotide variant	NM_001195263.2(PDZD7):c.1312C>T (p.Leu438=)	not provided [RCV002585808]	likely benign	10	101018834	101018834	Human		name
156150175	CV1964299	single nucleotide variant	NM_001195263.2(PDZD7):c.1341G>A (p.Arg447=)	not provided [RCV002572871]	likely benign	10	101018280	101018280	Human		name
156244911	CV1973379	single nucleotide variant	NM_001195263.2(PDZD7):c.2895T>C (p.Thr965=)	not provided [RCV002597273]	likely benign	10	101008674	101008674	Human		name
156416210	CV1976461	single nucleotide variant	NM_001195263.2(PDZD7):c.199G>A (p.Val67Ile)	not provided [RCV002589583]	uncertain significance	10	101030021	101030021	Human		name
156393640	CV1984229	single nucleotide variant	NM_001195263.2(PDZD7):c.263G>A (p.Arg88Gln)	not provided [RCV002635236]	uncertain significance	10	101024032	101024032	Human		name
156086432	CV1989411	single nucleotide variant	NM_001195263.2(PDZD7):c.2202C>G (p.Pro734=)	not provided [RCV002639070]	likely benign	10	101010687	101010687	Human		name
156115577	CV1993888	single nucleotide variant	NM_001195263.2(PDZD7):c.1914G>A (p.Glu638=)	not provided [RCV002662652]	likely benign	10	101011944	101011944	Human		name
156378853	CV2001421	single nucleotide variant	NM_001195263.2(PDZD7):c.2236C>T (p.Leu746=)	not provided [RCV002653513]	likely benign	10	101010653	101010653	Human		name
156221722	CV2005730	single nucleotide variant	NM_001195263.2(PDZD7):c.2034G>A (p.Pro678=)	not provided [RCV002667253]	likely benign	10	101010855	101010855	Human		name
155901129	CV2010156	single nucleotide variant	NM_001195263.2(PDZD7):c.2028G>C (p.Leu676=)	not provided [RCV002726185]	likely benign	10	101010861	101010861	Human		name
156116499	CV2015714	single nucleotide variant	NM_001195263.2(PDZD7):c.2082G>T (p.Arg694=)	not provided [RCV002695870]	likely benign	10	101010807	101010807	Human		name
156147441	CV2026670	single nucleotide variant	NM_001195263.2(PDZD7):c.2331T>G (p.Arg777=)	not provided [RCV002741116]	likely benign	10	101010558	101010558	Human		name
156053467	CV2027483	single nucleotide variant	NM_001195263.2(PDZD7):c.166C>A (p.Arg56Ser)	not provided [RCV002736587]	uncertain significance	10	101030054	101030054	Human		name
156229570	CV2027936	single nucleotide variant	NM_001195263.2(PDZD7):c.1699A>C (p.Arg567=)	not provided [RCV002745254]	likely benign	10	101015686	101015686	Human		name
155956695	CV2033455	single nucleotide variant	NM_001195263.2(PDZD7):c.166C>T (p.Arg56Cys)	not provided [RCV002730964]	uncertain significance	10	101030054	101030054	Human		name
156153164	CV2049180	single nucleotide variant	NM_001195263.2(PDZD7):c.2112C>T (p.Ala704=)	not provided [RCV002801359]	likely benign	10	101010777	101010777	Human		name
156283314	CV2050059	single nucleotide variant	NM_001195263.2(PDZD7):c.1056G>A (p.Gly352=)	not provided [RCV002807063]	likely benign	10	101019090	101019090	Human		name
156036601	CV2052555	single nucleotide variant	NM_001195263.2(PDZD7):c.2814G>A (p.Lys938=)	not provided [RCV002796273]	likely benign	10	101008755	101008755	Human		name
155943266	CV2064563	single nucleotide variant	NM_001195263.2(PDZD7):c.1656G>A (p.Gln552=)	not provided [RCV002839551]	likely benign	10	101015729	101015729	Human		name
155968875	CV2077078	single nucleotide variant	NM_001195263.2(PDZD7):c.169G>A (p.Gly57Arg)	not provided [RCV002863216]	uncertain significance	10	101030051	101030051	Human		name
156011150	CV2079766	single nucleotide variant	NM_001195263.2(PDZD7):c.2460C>A (p.Pro820=)	not provided [RCV002866115]	likely benign	10	101010429	101010429	Human		name
156088639	CV2080162	single nucleotide variant	NM_001195263.2(PDZD7):c.2847C>T (p.Val949=)	not provided [RCV002847633]	likely benign	10	101008722	101008722	Human		name
156119308	CV2083004	single nucleotide variant	NM_001195263.2(PDZD7):c.2991C>A (p.Pro997=)	not provided [RCV002871198]	likely benign	10	101008578	101008578	Human		name
156214116	CV2085098	single nucleotide variant	NM_001195263.2(PDZD7):c.1314G>A (p.Leu438=)	not provided [RCV002893917]	likely benign	10	101018832	101018832	Human		name
156203851	CV2110178	single nucleotide variant	NM_001195263.2(PDZD7):c.1047C>T (p.Ile349=)	not provided [RCV002957480]	likely benign	10	101019099	101019099	Human		name
156146192	CV2118156	single nucleotide variant	NM_001195263.2(PDZD7):c.2400G>A (p.Val800=)	not provided [RCV002928743]	likely benign	10	101010489	101010489	Human		name
156307339	CV2123192	single nucleotide variant	NM_001195263.2(PDZD7):c.2892T>A (p.Leu964=)	not provided [RCV002962428]	likely benign	10	101008677	101008677	Human		name
156050260	CV2140771	single nucleotide variant	NM_001195263.2(PDZD7):c.2178C>G (p.Thr726=)	not provided [RCV002999848]	likely benign	10	101010711	101010711	Human		name
156246635	CV2145502	single nucleotide variant	NM_001195263.2(PDZD7):c.175C>T (p.Arg59Ter)	not provided [RCV003008293]	pathogenic	10	101030045	101030045	Human		name
156111409	CV2146177	single nucleotide variant	NM_001195263.2(PDZD7):c.2436C>T (p.Tyr812=)	not provided [RCV003021428]	likely benign	10	101010453	101010453	Human		name
156349779	CV2146963	single nucleotide variant	NM_001195263.2(PDZD7):c.1842G>A (p.Arg614=)	not provided [RCV003030779]	uncertain significance	10	101012016	101012016	Human		name
156127849	CV2158572	single nucleotide variant	NM_001195263.2(PDZD7):c.1128G>A (p.Ala376=)	not provided [RCV003022057]	likely benign	10	101019018	101019018	Human		name
156145185	CV2164180	single nucleotide variant	NM_001195263.2(PDZD7):c.1620C>T (p.Pro540=)	not provided [RCV003022660]	likely benign	10	101015765	101015765	Human		name
156300087	CV2191456	single nucleotide variant	NM_001195263.2(PDZD7):c.275G>A (p.Ser92Asn)	not provided [RCV003061920]	uncertain significance	10	101024020	101024020	Human		name
155994020	CV2277932	single nucleotide variant	NM_001195263.2(PDZD7):c.178G>C (p.Ala60Pro)	Inborn genetic diseases [RCV002882684]	uncertain significance	10	101030042	101030042	Human	1	name
402476253	CV2857237	single nucleotide variant	NM_001195263.2(PDZD7):c.2694C>A (p.Ala898=)	not provided [RCV003543423]	likely benign	10	101009274	101009274	Human		name
405019253	CV2866174	single nucleotide variant	NM_001195263.2(PDZD7):c.2589G>C (p.Val863=)	not provided [RCV003577448]	likely benign	10	101010300	101010300	Human		name
405225156	CV2881923	single nucleotide variant	NM_001195263.2(PDZD7):c.2325C>T (p.Arg775=)	not provided [RCV003554529]	likely benign	10	101010564	101010564	Human		name
402464954	CV2916506	single nucleotide variant	NM_001195263.2(PDZD7):c.1095G>C (p.Arg365=)	not provided [RCV003569128]	likely benign	10	101019051	101019051	Human		name
405185754	CV2921330	single nucleotide variant	NM_001195263.2(PDZD7):c.2964C>T (p.His988=)	not provided [RCV003564438]	likely benign	10	101008605	101008605	Human		name
405085058	CV2943080	single nucleotide variant	NM_001195263.2(PDZD7):c.1212C>T (p.Pro404=)	not provided [RCV003664892]	likely benign	10	101018934	101018934	Human		name
402501270	CV2943708	single nucleotide variant	NM_001195263.2(PDZD7):c.2946T>C (p.Ala982=)	not provided [RCV003661632]	likely benign	10	101008623	101008623	Human		name
405161367	CV2950248	single nucleotide variant	NM_001195263.2(PDZD7):c.2517C>T (p.Pro839=)	not provided [RCV003674630]	likely benign	10	101010372	101010372	Human		name
405216742	CV2971963	single nucleotide variant	NM_001195263.2(PDZD7):c.2862A>G (p.Pro954=)	not provided [RCV003680023]	likely benign	10	101008707	101008707	Human		name
405015980	CV2995365	single nucleotide variant	NM_001195263.2(PDZD7):c.2067G>C (p.Gly689=)	not provided [RCV003694399]	likely benign	10	101010822	101010822	Human		name
402489341	CV2995708	single nucleotide variant	NM_001195263.2(PDZD7):c.2394C>T (p.Ser798=)	not provided [RCV003687380]	likely benign	10	101010495	101010495	Human		name
402508912	CV2998338	single nucleotide variant	NM_001195263.2(PDZD7):c.2220C>G (p.Pro740=)	not provided [RCV003689349]	likely benign	10	101010669	101010669	Human		name
405185332	CV3040260	single nucleotide variant	NM_001195263.2(PDZD7):c.1812G>A (p.Pro604=)	not provided [RCV003705892]	likely benign	10	101012196	101012196	Human		name
405234628	CV3040641	single nucleotide variant	NM_001195263.2(PDZD7):c.1986C>T (p.His662=)	not provided [RCV003712109]	likely benign	10	101011709	101011709	Human		name
402510773	CV3042535	single nucleotide variant	NM_001195263.2(PDZD7):c.1836C>T (p.Asp612=)	not provided [RCV003715650]	likely benign	10	101012172	101012172	Human		name
405228272	CV3065755	single nucleotide variant	NM_001195263.2(PDZD7):c.1773G>A (p.Glu591=)	not provided [RCV003734439]	likely benign	10	101012235	101012235	Human		name
405236023	CV3079485	single nucleotide variant	NM_001195263.2(PDZD7):c.2868C>G (p.Pro956=)	not provided [RCV003735842]	likely benign	10	101008701	101008701	Human		name
405045335	CV3141611	single nucleotide variant	NM_001195263.2(PDZD7):c.1584G>A (p.Arg528=)	not provided [RCV003831712]	likely benign	10	101015801	101015801	Human		name
405190513	CV3149549	single nucleotide variant	NM_001195263.2(PDZD7):c.2889C>T (p.Ala963=)	not provided [RCV003843275]	likely benign	10	101008680	101008680	Human		name
405726692	CV3235196	deletion	NM_001195263.2(PDZD7):c.604del (p.Ser202fs)	Rare genetic deafness [RCV004018227]	likely pathogenic	10	101022324	101022324	Human		name
405789671	CV3372148	single nucleotide variant	NM_001195263.2(PDZD7):c.187C>T (p.Pro63Ser)	Inborn genetic diseases [RCV004505567]	uncertain significance	10	101030033	101030033	Human	1	name
405789681	CV3372150	single nucleotide variant	NM_001195263.2(PDZD7):c.284G>A (p.Gly95Glu)	Inborn genetic diseases [RCV004505569]	uncertain significance	10	101024011	101024011	Human	1	name
407528671	CV3470522	single nucleotide variant	NM_001195263.2(PDZD7):c.287G>A (p.Arg96Lys)	Inborn genetic diseases [RCV004655639]	uncertain significance	10	101024008	101024008	Human	1	name
408385370	CV3520162	single nucleotide variant	NM_001195263.2(PDZD7):c.102C>A (p.Asp34Glu)	not provided [RCV004759983]	uncertain significance	10	101030118	101030118	Human		name
596921308	CV3534952	duplication	NM_001195263.2(PDZD7):c.561dup (p.Arg188fs)	not provided [RCV004784510]	likely pathogenic	10	101022366	101022367	Human		name
597713447	CV3579294	single nucleotide variant	NM_001195263.2(PDZD7):c.100G>C (p.Asp34His)	Inborn genetic diseases [RCV004959442]	uncertain significance	10	101030120	101030120	Human	1	name
597927044	CV3748972	single nucleotide variant	NM_001195263.2(PDZD7):c.1122C>A (p.Pro374=)	not provided [RCV005075428]	likely benign	10	101019024	101019024	Human		name
597909202	CV3749499	single nucleotide variant	NM_001195263.2(PDZD7):c.1008C>G (p.Pro336=)	not provided [RCV005073347]	likely benign	10	101019138	101019138	Human		name
597939264	CV3756801	single nucleotide variant	NM_001195263.2(PDZD7):c.2877T>G (p.Ser959=)	not provided [RCV005077182]	likely benign	10	101008692	101008692	Human		name
597920381	CV3781244	single nucleotide variant	NM_001195263.2(PDZD7):c.1779G>T (p.Leu593=)	not provided [RCV005130126]	likely benign	10	101012229	101012229	Human		name
597918409	CV3789727	single nucleotide variant	NM_001195263.2(PDZD7):c.1821G>C (p.Leu607=)	not provided [RCV005129822]	likely benign	10	101012187	101012187	Human		name
597956192	CV3792345	single nucleotide variant	NM_001195263.2(PDZD7):c.1317C>A (p.Thr439=)	not provided [RCV005137233]	likely benign	10	101018829	101018829	Human		name
597958588	CV3797277	deletion	NM_001195263.2(PDZD7):c.494del (p.Arg165fs)	not provided [RCV005137964]	pathogenic	10	101023484	101023484	Human		name
597958917	CV3797419	duplication	NM_001195263.2(PDZD7):c.391dup (p.Asp131fs)	not provided [RCV005138106]	pathogenic	10	101023586	101023587	Human		name
597968731	CV3821230	single nucleotide variant	NM_001195263.2(PDZD7):c.1197G>A (p.Ser399=)	not provided [RCV005165872]	likely benign	10	101018949	101018949	Human		name
597839333	CV3824939	single nucleotide variant	NM_001195263.2(PDZD7):c.2806C>A (p.Arg936=)	not provided [RCV005171803]	likely benign	10	101008763	101008763	Human		name
597896499	CV3834605	single nucleotide variant	NM_001195263.2(PDZD7):c.2185C>A (p.Arg729=)	not provided [RCV005180516]	likely benign	10	101010704	101010704	Human		name
597922955	CV3839880	single nucleotide variant	NM_001195263.2(PDZD7):c.2541G>A (p.Thr847=)	not provided [RCV005184619]	likely benign	10	101010348	101010348	Human		name
597908325	CV3853696	single nucleotide variant	NM_001195263.2(PDZD7):c.2316C>T (p.Ser772=)	not provided [RCV005203179]	likely benign	10	101010573	101010573	Human		name
597899229	CV3854649	single nucleotide variant	NM_001195263.2(PDZD7):c.2166A>G (p.Val722=)	not provided [RCV005201757]	likely benign	10	101010723	101010723	Human		name
598125227	CV3883879	single nucleotide variant	NM_001195263.2(PDZD7):c.203T>G (p.Ile68Ser)	not provided [RCV005236234]	uncertain significance	10	101030017	101030017	Human		name
617154362	CV4022632	single nucleotide variant	NM_001195263.2(PDZD7):c.1749G>A (p.Arg583=)	not provided [RCV005429990]	uncertain significance	10	101015636	101015636	Human		name
13446284	CV437876	single nucleotide variant	NM_001195263.2(PDZD7):c.293G>T (p.Gly98Val)	not provided [RCV000513520]	uncertain significance	10	101024002	101024002	Human		name
13445726	CV437877	single nucleotide variant	NM_001195263.2(PDZD7):c.224A>T (p.Glu75Val)	not provided [RCV000512782]	uncertain significance	10	101029996	101029996	Human		name
13476529	CV444551	single nucleotide variant	NM_001195263.2(PDZD7):c.244G>A (p.Asp82Asn)	not provided [RCV000520171]	uncertain significance	10	101024051	101024051	Human		name
13527629	CV497123	single nucleotide variant	NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=)	not provided [RCV000888077]\|not specified [RCV000605246]	benign\|likely benign	10	101008626	101008626	Human		name
8606941	CV53288	single nucleotide variant	NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=)	not provided [RCV000712518]\|not specified [RCV000037096]	benign	10	101010840	101010840	Human		name
8606945	CV53292	single nucleotide variant	NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=)	Hearing loss, autosomal recessive 57 [RCV001787826]\|Usher syndrome type 2C [RCV001787825]\|not provided [RCV000835644]\|not specified [RCV000037100]	benign	10	101010570	101010570	Human	3	name
13609127	CV535670	single nucleotide variant	NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu)	Hearing loss, autosomal recessive 57 [RCV000656356]	pathogenic\|uncertain significance	10	101030023	101030023	Human	1	name
8609065	CV55371	single nucleotide variant	NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)	Usher syndrome type 2C [RCV002490540]\|not provided [RCV001518729]\|not specified [RCV000039450]	benign	10	101019135	101019135	Human	1	name
14703161	CV654567	single nucleotide variant	NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=)	PDZD7-related disorder [RCV004549904]\|not provided [RCV001512293]\|not specified [RCV000825084]	benign\|likely benign	10	101010659	101010659	Human		name , alternate_id
14704594	CV654569	single nucleotide variant	NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=)	not provided [RCV000965150]\|not specified [RCV000825812]	benign\|likely benign	10	101011953	101011953	Human		name
14704597	CV654571	single nucleotide variant	NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)	Usher syndrome type 2C [RCV002501156]\|not provided [RCV001417965]\|not specified [RCV000825813]	likely benign	10	101015756	101015756	Human	1	name
15131261	CV751905	single nucleotide variant	NM_001195263.2(PDZD7):c.2568C>A (p.Pro856=)	PDZD7-related disorder [RCV004551844]\|not provided [RCV000920145]	likely benign	10	101010321	101010321	Human		name , alternate_id
15123289	CV767587	single nucleotide variant	NM_001195263.2(PDZD7):c.1191C>T (p.Ile397=)	not provided [RCV000940828]	likely benign	10	101018955	101018955	Human		name
26915840	CV836519	single nucleotide variant	NM_001195263.2(PDZD7):c.2574C>T (p.Gly858=)	not provided [RCV001039486]	likely benign\|uncertain significance	10	101010315	101010315	Human		name
26898482	CV836546	single nucleotide variant	NM_001195263.2(PDZD7):c.278C>T (p.Pro93Leu)	Inborn genetic diseases [RCV002555853]\|not provided [RCV001066594]	uncertain significance	10	101024017	101024017	Human	1	name
26918788	CV836547	single nucleotide variant	NM_001195263.2(PDZD7):c.206T>C (p.Leu69Pro)	not provided [RCV001044256]	uncertain significance	10	101030014	101030014	Human		name
26887782	CV836548	single nucleotide variant	NM_001195263.2(PDZD7):c.119C>T (p.Thr40Met)	not provided [RCV001056784]	uncertain significance	10	101030101	101030101	Human		name
26902726	CV857674	single nucleotide variant	NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met)	Hearing loss, autosomal recessive 57 [RCV001089563]	uncertain significance	10	101024008	101024008	Human	1	name
38466926	CV934917	single nucleotide variant	NM_001195263.2(PDZD7):c.1530C>T (p.Gly510=)	not provided [RCV001212856]	likely benign\|uncertain significance	10	101016420	101016420	Human		name
38463930	CV934921	single nucleotide variant	NM_001195263.2(PDZD7):c.292G>A (p.Gly98Ser)	not provided [RCV001201439]	uncertain significance	10	101024003	101024003	Human		name
38471727	CV934922	single nucleotide variant	NM_001195263.2(PDZD7):c.146G>A (p.Arg49Gln)	not provided [RCV001213848]	uncertain significance	10	101030074	101030074	Human		name
38470970	CV946782	single nucleotide variant	NM_001195263.2(PDZD7):c.185C>T (p.Ser62Leu)	not provided [RCV001231111]	uncertain significance	10	101030035	101030035	Human		name
38478187	CV946783	single nucleotide variant	NM_001195263.2(PDZD7):c.134G>A (p.Arg45Lys)	not provided [RCV001233699]	uncertain significance	10	101030086	101030086	Human		name
38460204	CV955964	single nucleotide variant	NM_001195263.2(PDZD7):c.126C>A (p.Tyr42Ter)	not provided [RCV001246703]	pathogenic	10	101030094	101030094	Human		name
41408044	CV980585	single nucleotide variant	NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)	Hearing loss, autosomal recessive 57 [RCV001281370]	pathogenic	10	101024044	101024044	Human	1	name
126760781	CV993661	single nucleotide variant	NM_001195263.2(PDZD7):c.226G>C (p.Ala76Pro)	not provided [RCV001309411]	uncertain significance	10	101029994	101029994	Human		name
126751644	CV1008836	single nucleotide variant	NM_001195263.2(PDZD7):c.890A>T (p.Tyr297Phe)	not provided [RCV001326961]	uncertain significance	10	101020656	101020656	Human		name
126739710	CV1008837	single nucleotide variant	NM_001195263.2(PDZD7):c.742G>A (p.Glu248Lys)	Inborn genetic diseases [RCV003166792]\|not provided [RCV001314279]	uncertain significance	10	101021923	101021923	Human	1	name
126755705	CV1008838	single nucleotide variant	NM_001195263.2(PDZD7):c.704G>C (p.Gly235Ala)	not provided [RCV001317002]	uncertain significance	10	101022224	101022224	Human		name
126755274	CV1008839	single nucleotide variant	NM_001195263.2(PDZD7):c.517A>C (p.Lys173Gln)	not provided [RCV001316902]	uncertain significance	10	101023461	101023461	Human		name
126768636	CV1008840	single nucleotide variant	NM_001195263.2(PDZD7):c.491G>A (p.Arg164Gln)	not provided [RCV001321478]	uncertain significance	10	101023487	101023487	Human		name
126731936	CV1020678	deletion	NM_001195263.2(PDZD7):c.2211del (p.Gln737fs)	Hearing loss, autosomal recessive [RCV004719052]\|Nonsyndromic genetic hearing loss [RCV004018298]	pathogenic\|likely pathogenic	10	101010678	101010678	Human	3	name
126760897	CV1029404	single nucleotide variant	NM_001195263.2(PDZD7):c.679C>T (p.Arg227Cys)	not provided [RCV001340537]	uncertain significance	10	101022249	101022249	Human		name
126737125	CV1029405	single nucleotide variant	NM_001195263.2(PDZD7):c.658T>G (p.Phe220Val)	not provided [RCV001350313]	uncertain significance	10	101022270	101022270	Human		name
126743790	CV1029406	single nucleotide variant	NM_001195263.2(PDZD7):c.626G>A (p.Arg209His)	Inborn genetic diseases [RCV002547519]\|not provided [RCV001351191]	uncertain significance	10	101022302	101022302	Human	1	name
126768662	CV1029407	single nucleotide variant	NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn)	Inborn genetic diseases [RCV002546991]\|Usher syndrome type 2C [RCV002486394]\|not provided [RCV001343487]	uncertain significance	10	101022330	101022330	Human	2	name
126725242	CV1029408	single nucleotide variant	NM_001195263.2(PDZD7):c.516C>G (p.Ile172Met)	not provided [RCV001348090]	uncertain significance	10	101023462	101023462	Human		name
126771599	CV1029409	single nucleotide variant	NM_001195263.2(PDZD7):c.493C>T (p.Arg165Cys)	not provided [RCV001345141]	uncertain significance	10	101023485	101023485	Human		name
126774671	CV1029410	single nucleotide variant	NM_001195263.2(PDZD7):c.364G>A (p.Ala122Thr)	Inborn genetic diseases [RCV005385055]\|not provided [RCV001347497]	uncertain significance	10	101023931	101023931	Human	1	name
126909346	CV1046366	duplication	NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs)	not provided [RCV001368418]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	101009275	101009276	Human		name
126924251	CV1046386	single nucleotide variant	NM_001195263.2(PDZD7):c.665T>G (p.Leu222Arg)	not provided [RCV001366818]	uncertain significance	10	101022263	101022263	Human		name
126920980	CV1046387	single nucleotide variant	NM_001195263.2(PDZD7):c.562C>T (p.Arg188Cys)	not provided [RCV001374131]	uncertain significance	10	101022366	101022366	Human		name
126916864	CV1046388	single nucleotide variant	NM_001195263.2(PDZD7):c.349G>A (p.Glu117Lys)	not provided [RCV001371751]	uncertain significance	10	101023946	101023946	Human		name
126910559	CV1053297	single nucleotide variant	NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu)	Hearing impairment [RCV001375232]\|not provided [RCV001865875]	uncertain significance	10	101023497	101023497	Human	2	name
127263881	CV1061847	duplication	NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs)	PDZD7-related disorder [RCV004550097]\|not provided [RCV001381079]	pathogenic\|likely pathogenic	10	101015729	101015730	Human		name , alternate_id
127252530	CV1061848	duplication	NM_001195263.2(PDZD7):c.1147dup (p.Trp383fs)	not provided [RCV001385729]	pathogenic	10	101018998	101018999	Human		name
127252077	CV1061849	single nucleotide variant	NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter)	not provided [RCV001385626]	pathogenic\|likely pathogenic	10	101019153	101019153	Human		name
150421018	CV1180635	single nucleotide variant	NM_001195263.2(PDZD7):c.592C>T (p.Pro198Ser)	not provided [RCV001551822]	uncertain significance	10	101022336	101022336	Human		name
150414291	CV1191024	deletion	NM_001195263.2(PDZD7):c.1522+186_1522+219del	not provided [RCV001567470]	likely benign	10	101017880	101017913	Human		name
150417266	CV1194287	deletion	NM_001195263.2(PDZD7):c.1522+186_1522+227del	not provided [RCV001568694]	likely benign	10	101017872	101017913	Human		name
150406617	CV1194288	deletion	NM_001195263.2(PDZD7):c.1522+186_1522+215del	not provided [RCV001572068]	likely benign	10	101017884	101017913	Human		name
150418792	CV1194289	microsatellite	NM_001195263.2(PDZD7):c.1522+207_1522+211del	not provided [RCV001569387]	likely benign	10	101017888	101017892	Human		name
150422201	CV1194290	deletion	NM_001195263.2(PDZD7):c.1522+186_1522+211del	not provided [RCV001570909]	likely benign	10	101017888	101017913	Human		name
150413075	CV1197989	microsatellite	NM_001195263.2(PDZD7):c.1522+207_1522+215del	not provided [RCV001574514]	likely benign	10	101017884	101017892	Human		name
150497476	CV1208762	deletion	NM_001195263.2(PDZD7):c.1522+186_1522+223del	not provided [RCV001593979]	likely benign	10	101017876	101017913	Human		name
150482000	CV1222263	microsatellite	NM_001195263.2(PDZD7):c.1522+207_1522+223del	not provided [RCV001617061]	benign	10	101017876	101017892	Human		name
150501978	CV1241097	deletion	NM_001195263.2(PDZD7):c.1522+260_1522+265del	not provided [RCV001656993]	benign	10	101017834	101017839	Human		name
150470993	CV1248125	microsatellite	NM_001195263.2(PDZD7):c.1522+207_1522+219del	not provided [RCV001671161]	benign	10	101017880	101017892	Human		name
150530197	CV1293401	single nucleotide variant	NM_001195263.2(PDZD7):c.563G>A (p.Arg188His)	Inborn genetic diseases [RCV004040065]\|not provided [RCV001756622]	uncertain significance	10	101022365	101022365	Human	1	name
150552895	CV1295565	single nucleotide variant	NM_001195263.2(PDZD7):c.902T>C (p.Val301Ala)	not provided [RCV001768497]	uncertain significance	10	101020644	101020644	Human		name
150545831	CV1296942	single nucleotide variant	NM_001195263.2(PDZD7):c.547G>A (p.Asp183Asn)	not provided [RCV001763233]	uncertain significance	10	101022381	101022381	Human		name
150541595	CV1301532	single nucleotide variant	NM_001195263.2(PDZD7):c.305G>A (p.Arg102His)	not provided [RCV001760998]	uncertain significance	10	101023990	101023990	Human		name
151233170	CV1317732	single nucleotide variant	NM_001195263.2(PDZD7):c.574G>A (p.Glu192Lys)	not provided [RCV001787498]	uncertain significance	10	101022354	101022354	Human		name
151236033	CV1319463	single nucleotide variant	NM_001195263.2(PDZD7):c.494G>A (p.Arg165His)	not provided [RCV001797408]	uncertain significance	10	101023484	101023484	Human		name
151355782	CV1326966	deletion	NM_001195263.2(PDZD7):c.1113del (p.Thr372fs)	not provided [RCV001822135]	pathogenic\|likely pathogenic	10	101019033	101019033	Human		name
151877782	CV1337697	single nucleotide variant	NM_001195263.2(PDZD7):c.607T>A (p.Ser203Thr)	not provided [RCV001926042]	uncertain significance	10	101022321	101022321	Human		name
151872438	CV1339596	single nucleotide variant	NM_001195263.2(PDZD7):c.323G>T (p.Gly108Val)	not provided [RCV002035850]	uncertain significance	10	101023972	101023972	Human		name
151770514	CV1340002	single nucleotide variant	NM_001195263.2(PDZD7):c.445G>A (p.Ala149Thr)	not provided [RCV001874402]	uncertain significance	10	101023533	101023533	Human		name
151805280	CV1340026	single nucleotide variant	NM_001195263.2(PDZD7):c.652G>T (p.Asp218Tyr)	not provided [RCV001867497]	uncertain significance	10	101022276	101022276	Human		name
151891008	CV1346862	single nucleotide variant	NM_001195263.2(PDZD7):c.502C>T (p.Arg168Cys)	Inborn genetic diseases [RCV003289408]\|not provided [RCV002038974]	uncertain significance	10	101023476	101023476	Human	1	name
151740795	CV1352794	single nucleotide variant	NM_001195263.2(PDZD7):c.472C>T (p.Arg158Cys)	not provided [RCV001871002]	uncertain significance	10	101023506	101023506	Human		name
151831852	CV1356014	single nucleotide variant	NM_001195263.2(PDZD7):c.727C>A (p.His243Asn)	not provided [RCV002030878]	uncertain significance	10	101021938	101021938	Human		name
151872055	CV1366669	deletion	NM_001195263.2(PDZD7):c.1222del (p.Asp409fs)	not provided [RCV001960568]	pathogenic	10	101018924	101018924	Human		name
151807289	CV1382328	single nucleotide variant	NM_001195263.2(PDZD7):c.959C>T (p.Pro320Leu)	not provided [RCV002028638]	uncertain significance	10	101019187	101019187	Human		name
151730810	CV1385261	single nucleotide variant	NM_001195263.2(PDZD7):c.626G>C (p.Arg209Pro)	Inborn genetic diseases [RCV004956034]\|not provided [RCV001967090]	uncertain significance	10	101022302	101022302	Human	1	name
151833531	CV1396359	single nucleotide variant	NM_001195263.2(PDZD7):c.584G>A (p.Gly195Asp)	not provided [RCV001902045]	uncertain significance	10	101022344	101022344	Human		name
151711885	CV1401463	deletion	NM_001195263.2(PDZD7):c.2220del (p.Val741fs)	not provided [RCV001964466]	pathogenic	10	101010669	101010669	Human		name
151875644	CV1405852	single nucleotide variant	NM_001195263.2(PDZD7):c.581G>A (p.Cys194Tyr)	not provided [RCV001981866]	uncertain significance	10	101022347	101022347	Human		name
151764433	CV1407670	single nucleotide variant	NM_001195263.2(PDZD7):c.482T>C (p.Met161Thr)	not provided [RCV002044636]	uncertain significance	10	101023496	101023496	Human		name
151844287	CV1414757	deletion	NM_001195263.2(PDZD7):c.2148del (p.Leu717fs)	not provided [RCV001903227]	pathogenic	10	101010741	101010741	Human		name
151730887	CV1420698	single nucleotide variant	NM_001195263.2(PDZD7):c.727C>G (p.His243Asp)	not provided [RCV002041184]	uncertain significance	10	101021938	101021938	Human		name
151826582	CV1426005	deletion	NM_001195263.2(PDZD7):c.2182del (p.Leu728fs)	not provided [RCV001993290]	pathogenic	10	101010707	101010707	Human		name
151745905	CV1428225	single nucleotide variant	NM_001195263.2(PDZD7):c.893A>G (p.Lys298Arg)	not provided [RCV001926959]	uncertain significance	10	101020653	101020653	Human		name
151883886	CV1428440	duplication	NM_001195263.2(PDZD7):c.2568dup (p.Ser857fs)	not provided [RCV002000152]	pathogenic	10	101010320	101010321	Human		name
151885340	CV1431886	deletion	NM_001195263.2(PDZD7):c.2462del (p.Pro821fs)	not provided [RCV002037732]	pathogenic	10	101010427	101010427	Human		name
151840078	CV1431918	deletion	NM_001195263.2(PDZD7):c.1100del (p.Asp367fs)	not provided [RCV001994634]	pathogenic	10	101019046	101019046	Human		name
151744382	CV1432848	single nucleotide variant	NM_001195263.2(PDZD7):c.790G>A (p.Val264Ile)	not provided [RCV001968477]	uncertain significance	10	101021875	101021875	Human		name
151872117	CV1437273	single nucleotide variant	NM_001195263.2(PDZD7):c.958C>T (p.Pro320Ser)	not provided [RCV002035810]	uncertain significance	10	101019188	101019188	Human		name
151738713	CV1437468	duplication	NM_001195263.2(PDZD7):c.2853dup (p.Pro952fs)	not provided [RCV001870799]	uncertain significance	10	101008715	101008716	Human		name
151774857	CV1450283	single nucleotide variant	NM_001195263.2(PDZD7):c.649T>C (p.Ser217Pro)	not provided [RCV001915334]	uncertain significance	10	101022279	101022279	Human		name
151725239	CV1455635	single nucleotide variant	NM_001195263.2(PDZD7):c.393C>A (p.Asp131Glu)	not provided [RCV002020695]	uncertain significance	10	101023585	101023585	Human		name
151733549	CV1456554	single nucleotide variant	NM_001195263.2(PDZD7):c.766G>A (p.Asp256Asn)	not provided [RCV002041447]	uncertain significance	10	101021899	101021899	Human		name
151805042	CV1457036	single nucleotide variant	NM_001195263.2(PDZD7):c.877C>T (p.Arg293Trp)	not provided [RCV001877721]	uncertain significance	10	101020669	101020669	Human		name
151745448	CV1460992	single nucleotide variant	NM_001195263.2(PDZD7):c.500G>A (p.Gly167Asp)	not provided [RCV001871461]	uncertain significance	10	101023478	101023478	Human		name
151803763	CV1462769	single nucleotide variant	NM_001195263.2(PDZD7):c.989C>G (p.Ser330Trp)	not provided [RCV002028338]	uncertain significance	10	101019157	101019157	Human		name
151857029	CV1491227	duplication	NM_001195263.2(PDZD7):c.1529dup (p.Val511fs)	not provided [RCV001958722]	pathogenic	10	101016420	101016421	Human		name
151720784	CV1496979	single nucleotide variant	NM_001195263.2(PDZD7):c.887C>T (p.Ala296Val)	not provided [RCV001909693]	uncertain significance	10	101020659	101020659	Human		name
151837151	CV1501108	single nucleotide variant	NM_001195263.2(PDZD7):c.494G>T (p.Arg165Leu)	Inborn genetic diseases [RCV002573367]\|not provided [RCV001977265]	uncertain significance	10	101023484	101023484	Human	1	name
151787680	CV1510014	single nucleotide variant	NM_001195263.2(PDZD7):c.509C>T (p.Pro170Leu)	Inborn genetic diseases [RCV004651812]\|not provided [RCV001916499]	uncertain significance	10	101023469	101023469	Human	1	name
151727446	CV1511794	single nucleotide variant	NM_001195263.2(PDZD7):c.481A>G (p.Met161Val)	not provided [RCV001983858]	uncertain significance	10	101023497	101023497	Human		name
151730628	CV1516000	single nucleotide variant	NM_001195263.2(PDZD7):c.464G>C (p.Ser155Thr)	not provided [RCV001984163]	uncertain significance	10	101023514	101023514	Human		name
152056731	CV1635095	single nucleotide variant	NM_001195263.2(PDZD7):c.3030T>G (p.Thr1010=)	not provided [RCV002089799]	likely benign	10	101008539	101008539	Human		name
153348111	CV1695160	single nucleotide variant	NM_001195263.2(PDZD7):c.769C>A (p.Gln257Lys)	not provided [RCV002279091]	uncertain significance	10	101021896	101021896	Human		name
9688055	CV174861	single nucleotide variant	NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)	PDZD7-related disorder [RCV004551316]\|not provided [RCV000891881]\|not specified [RCV000151646]	likely benign\|uncertain significance	10	101019175	101019175	Human		name , alternate_id
155796930	CV1863068	single nucleotide variant	NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)	Hearing loss, autosomal recessive 57 [RCV002470342]	uncertain significance	10	101021859	101021859	Human	1	name
155927387	CV1912175	single nucleotide variant	NM_001195263.2(PDZD7):c.385G>T (p.Val129Leu)	not provided [RCV002614830]	uncertain significance	10	101023593	101023593	Human		name
10048859	CV194883	single nucleotide variant	NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu)	PDZD7-related disorder [RCV004553010]\|not provided [RCV000880900]\|not specified [RCV000178837]	benign\|likely benign\|conflicting interpretations of pathogenicity	10	101022356	101022356	Human		name , alternate_id
156446258	CV1951295	single nucleotide variant	NM_001195263.2(PDZD7):c.385G>A (p.Val129Met)	not provided [RCV003117229]	uncertain significance	10	101023593	101023593	Human		name
10052987	CV195622	single nucleotide variant	NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)	Usher syndrome type 2C [RCV000763639]\|not provided [RCV000179818]	uncertain significance	10	101020668	101020668	Human	1	name
156340827	CV1961695	single nucleotide variant	NM_001195263.2(PDZD7):c.307G>A (p.Gly103Arg)	not provided [RCV002580496]	pathogenic	10	101023988	101023988	Human		name
156419445	CV1967074	single nucleotide variant	NM_001195263.2(PDZD7):c.473G>A (p.Arg158His)	not provided [RCV002612680]	uncertain significance	10	101023505	101023505	Human		name
156194801	CV1970929	single nucleotide variant	NM_001195263.2(PDZD7):c.920T>C (p.Leu307Pro)	not provided [RCV002625532]	uncertain significance	10	101020626	101020626	Human		name
155906521	CV1972169	single nucleotide variant	NM_001195263.2(PDZD7):c.961G>A (p.Ala321Thr)	not provided [RCV002613706]	uncertain significance	10	101019185	101019185	Human		name
156243959	CV1973330	single nucleotide variant	NM_001195263.2(PDZD7):c.583G>A (p.Gly195Ser)	not provided [RCV002597240]	uncertain significance	10	101022345	101022345	Human		name
156327238	CV1982251	single nucleotide variant	NM_001195263.2(PDZD7):c.582C>A (p.Cys194Ter)	not provided [RCV002649626]	pathogenic	10	101022346	101022346	Human		name
156281754	CV2001432	single nucleotide variant	NM_001195263.2(PDZD7):c.625C>T (p.Arg209Cys)	not provided [RCV002646867]	uncertain significance	10	101022303	101022303	Human		name
156181917	CV2020516	single nucleotide variant	NM_001195263.2(PDZD7):c.851T>A (p.Ile284Asn)	not provided [RCV002710809]	uncertain significance	10	101021814	101021814	Human		name
156230230	CV2024183	single nucleotide variant	NM_001195263.2(PDZD7):c.529G>A (p.Glu177Lys)	not provided [RCV002745277]	uncertain significance	10	101023449	101023449	Human		name
155919879	CV2027326	single nucleotide variant	NM_001195263.2(PDZD7):c.3021C>T (p.Leu1007=)	not provided [RCV002750660]	likely benign	10	101008548	101008548	Human		name
155966273	CV2034281	single nucleotide variant	NM_001195263.2(PDZD7):c.439G>A (p.Gly147Ser)	not provided [RCV002731409]	uncertain significance	10	101023539	101023539	Human		name
156099212	CV2042105	single nucleotide variant	NM_001195263.2(PDZD7):c.979A>G (p.Ser327Gly)	not provided [RCV002761252]	uncertain significance	10	101019167	101019167	Human		name
156348491	CV2052080	deletion	NM_001195263.2(PDZD7):c.1185del (p.Ala396fs)	not provided [RCV002811605]	pathogenic	10	101018961	101018961	Human		name
155924765	CV2073866	single nucleotide variant	NM_001195263.2(PDZD7):c.875G>A (p.Gly292Asp)	not provided [RCV002838478]	uncertain significance	10	101020671	101020671	Human		name
156308324	CV2076101	deletion	NM_001195263.2(PDZD7):c.2713del (p.Leu905fs)	not provided [RCV002857519]	pathogenic\|uncertain significance	10	101009255	101009255	Human		name
156310375	CV2076246	indel	NM_001195263.2(PDZD7):c.1420_1522+812delinsA	not provided [RCV002857626]	likely pathogenic	10	101017287	101018201	Human		name
156044579	CV2093225	deletion	NM_001195263.2(PDZD7):c.2082del (p.Leu695fs)	not provided [RCV002867571]	pathogenic	10	101010807	101010807	Human		name
156126317	CV2144893	single nucleotide variant	NM_001195263.2(PDZD7):c.883C>T (p.Pro295Ser)	not provided [RCV003003184]	uncertain significance	10	101020663	101020663	Human		name
155936252	CV2149942	deletion	NM_001195263.2(PDZD7):c.2133del (p.His711fs)	not provided [RCV003013959]	pathogenic	10	101010756	101010756	Human		name
156223961	CV2168526	single nucleotide variant	NM_001195263.2(PDZD7):c.880T>C (p.Tyr294His)	not provided [RCV003042829]	uncertain significance	10	101020666	101020666	Human		name
156371173	CV2168609	single nucleotide variant	NM_001195263.2(PDZD7):c.536C>T (p.Thr179Ile)	not provided [RCV003032241]	uncertain significance	10	101023442	101023442	Human		name
155996623	CV2171632	deletion	NM_001195263.2(PDZD7):c.2415del (p.Ser806fs)	not provided [RCV003034574]	pathogenic	10	101010474	101010474	Human		name
156371510	CV2174589	single nucleotide variant	NM_001195263.2(PDZD7):c.853A>G (p.Met285Val)	not provided [RCV003049737]	uncertain significance	10	101021812	101021812	Human		name
401723865	CV2737896	single nucleotide variant	NM_001195263.2(PDZD7):c.785A>G (p.Asn262Ser)	not provided [RCV003315068]	uncertain significance	10	101021880	101021880	Human		name
405202625	CV2861459	single nucleotide variant	NM_001195263.2(PDZD7):c.503G>A (p.Arg168His)	not provided [RCV003551495]	uncertain significance	10	101023475	101023475	Human		name
405138538	CV2903533	single nucleotide variant	NM_001195263.2(PDZD7):c.3024G>A (p.Gln1008=)	not provided [RCV003560654]	likely benign	10	101008545	101008545	Human		name
405034614	CV3006784	single nucleotide variant	NM_001195263.2(PDZD7):c.757A>T (p.Lys253Ter)	not provided [RCV003695834]	pathogenic	10	101021908	101021908	Human		name
405127835	CV3132930	single nucleotide variant	NM_001195263.2(PDZD7):c.3045C>T (p.Pro1015=)	not provided [RCV003838093]	likely benign	10	101008524	101008524	Human		name
405107130	CV3136235	duplication	NM_001195263.2(PDZD7):c.1987dup (p.Leu663fs)	not provided [RCV003835581]	pathogenic	10	101011707	101011708	Human		name
405247693	CV3159021	single nucleotide variant	NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)	PDZD7-related disorder [RCV004548732]\|not provided [RCV003869166]	pathogenic\|likely pathogenic	10	101020621	101020621	Human		name , alternate_id
402476512	CV3173813	single nucleotide variant	NM_001195263.2(PDZD7):c.680G>T (p.Arg227Leu)	not provided [RCV003875351]	uncertain significance	10	101022248	101022248	Human		name
405261374	CV3186178	duplication	NM_001195263.2(PDZD7):c.1522+311_1522+312dup	not provided [RCV003885254]	likely benign	10	101017786	101017787	Human		name
405745246	CV3226249	single nucleotide variant	NM_001195263.2(PDZD7):c.881A>G (p.Tyr294Cys)	Hearing loss, autosomal recessive 57 [RCV003991240]	uncertain significance	10	101020665	101020665	Human	1	name
405789685	CV3372151	single nucleotide variant	NM_001195263.2(PDZD7):c.444C>G (p.Ser148Arg)	Inborn genetic diseases [RCV004505570]	uncertain significance	10	101023534	101023534	Human	1	name
407528669	CV3470521	single nucleotide variant	NM_001195263.2(PDZD7):c.323G>A (p.Gly108Asp)	Inborn genetic diseases [RCV004655638]	uncertain significance	10	101023972	101023972	Human	1	name
407463779	CV3470524	single nucleotide variant	NM_001195263.2(PDZD7):c.925C>G (p.Arg309Gly)	Inborn genetic diseases [RCV004659779]	uncertain significance	10	101020621	101020621	Human	1	name
596943246	CV3542848	single nucleotide variant	NM_001195263.2(PDZD7):c.479A>C (p.His160Pro)	not provided [RCV004798432]	uncertain significance	10	101023499	101023499	Human		name
596939980	CV3550733	single nucleotide variant	NM_001195263.2(PDZD7):c.710A>T (p.Tyr237Phe)	not provided [RCV004814633]	uncertain significance	10	101022218	101022218	Human		name
597713474	CV3579298	single nucleotide variant	NM_001195263.2(PDZD7):c.944T>C (p.Leu315Pro)	Inborn genetic diseases [RCV004959446]	uncertain significance	10	101019202	101019202	Human	1	name
597713483	CV3579299	single nucleotide variant	NM_001195263.2(PDZD7):c.884C>G (p.Pro295Arg)	Inborn genetic diseases [RCV004959447]	uncertain significance	10	101020662	101020662	Human	1	name
597713490	CV3579301	single nucleotide variant	NM_001195263.2(PDZD7):c.923A>G (p.Asp308Gly)	Inborn genetic diseases [RCV004959448]	uncertain significance	10	101020623	101020623	Human	1	name
597723612	CV3734245	deletion	NM_001195263.2(PDZD7):c.2136del (p.Ile714fs)	Hearing loss, autosomal recessive 57 [RCV005053552]	pathogenic	10	101010753	101010753	Human	1	name
597954742	CV3754048	duplication	NM_001195263.2(PDZD7):c.2182dup (p.Leu728fs)	not provided [RCV005080091]	pathogenic	10	101010706	101010707	Human		name
597919101	CV3764938	deletion	NM_001195263.2(PDZD7):c.1872del (p.Phe625fs)	not provided [RCV005114953]	pathogenic	10	101011986	101011986	Human		name
597904041	CV3784420	deletion	NM_001195263.2(PDZD7):c.1083del (p.Gly362fs)	not provided [RCV005127472]	pathogenic	10	101019063	101019063	Human		name
597958886	CV3797409	single nucleotide variant	NM_001195263.2(PDZD7):c.386T>A (p.Val129Glu)	not provided [RCV005138096]	uncertain significance	10	101023592	101023592	Human		name
597957727	CV3800582	deletion	NM_001195263.2(PDZD7):c.2408del (p.Pro803fs)	not provided [RCV005137674]	pathogenic	10	101010481	101010481	Human		name
597948088	CV3818232	deletion	NM_001195263.2(PDZD7):c.2692del (p.Ala898fs)	not provided [RCV005160493]	pathogenic	10	101009276	101009276	Human		name
598196510	CV4002707	single nucleotide variant	NM_001195263.2(PDZD7):c.341G>A (p.Ser114Asn)	Inborn genetic diseases [RCV005397725]	uncertain significance	10	101023954	101023954	Human	1	name
598260897	CV4002708	single nucleotide variant	NM_001195263.2(PDZD7):c.437T>A (p.Met146Lys)	Inborn genetic diseases [RCV005386785]	uncertain significance	10	101023541	101023541	Human	1	name
13477155	CV444550	single nucleotide variant	NM_001195263.2(PDZD7):c.782C>T (p.Ala261Val)	not provided [RCV000520320]	uncertain significance	10	101021883	101021883	Human		name
13540365	CV496521	single nucleotide variant	NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser)	not provided [RCV001755990]\|not specified [RCV000614600]	uncertain significance	10	101022243	101022243	Human		name
8606942	CV53289	deletion	NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)	Hearing loss, autosomal recessive 57 [RCV000656355]\|PDZD7-related disorder [RCV004549450]\|Retinal dystrophy [RCV004814956]\|Usher syndrome type 2C [RCV002490502]\|Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV001849292]\|no ... (more) t provided [RCV000599609]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	10	101010782	101010782	Human	6	name , alternate_id
13609072	CV535663	single nucleotide variant	NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg)	Hearing loss, autosomal recessive 57 [RCV000656349]\|Usher syndrome type 2C [RCV003989572]\|not provided [RCV001051892]	pathogenic\|likely pathogenic	10	101023988	101023988	Human	3	name
13609073	CV535664	single nucleotide variant	NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg)	Hearing loss, autosomal recessive 57 [RCV000656350]	pathogenic\|likely pathogenic	10	101021811	101021811	Human	1	name
13609080	CV535667	single nucleotide variant	NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)	Hearing loss, autosomal recessive 57 [RCV000656353]\|PDZD7-related disorder [RCV004547829]\|not provided [RCV002536314]	pathogenic\|likely pathogenic\|uncertain significance	10	101022246	101022246	Human	1	name , alternate_id
13609129	CV535671	deletion	NM_001195263.2(PDZD7):c.1207del (p.His403fs)	Hearing loss, autosomal recessive 57 [RCV000656357]	pathogenic	10	101018939	101018939	Human	1	name
13706003	CV537142	single nucleotide variant	NM_001195263.2(PDZD7):c.559C>T (p.Arg187Trp)	not provided [RCV000658577]	uncertain significance	10	101022369	101022369	Human		name
13796247	CV551776	deletion	NM_001195263.2(PDZD7):c.1012del (p.Ser338fs)	Usher syndrome type 2A [RCV000678984]\|not provided [RCV003768031]	pathogenic	10	101019134	101019134	Human	1	name
14705112	CV654575	single nucleotide variant	NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser)	Usher syndrome type 2C [RCV002478938]\|not provided [RCV001044686]\|not specified [RCV000826016]	uncertain significance	10	101022366	101022366	Human	1	name
14703847	CV654576	single nucleotide variant	NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)	Hearing loss, autosomal recessive 57 [RCV002283515]\|PDZD7-related disorder [RCV004738029]\|Usher syndrome type 2C [RCV004796328]\|not provided [RCV001858394]\|not specified [RCV000825430]	pathogenic\|likely pathogenic\|uncertain significance	10	101023488	101023488	Human	4	name , alternate_id
14705121	CV654577	single nucleotide variant	NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn)	not provided [RCV001759630]\|not specified [RCV000826019]	uncertain significance	10	101023559	101023559	Human		name
15171938	CV723723	single nucleotide variant	NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)	Inborn genetic diseases [RCV002540043]\|PDZD7-related disorder [RCV004550022]\|not provided [RCV000883746]\|not specified [RCV001195203]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	101023608	101023608	Human	1	name , alternate_id
21073563	CV796352	single nucleotide variant	NM_001195263.2(PDZD7):c.937G>A (p.Gly313Arg)	not provided [RCV000994496]	uncertain significance	10	101019209	101019209	Human		name
25319783	CV805629	deletion	NM_001195263.2(PDZD7):c.2185del (p.Arg729fs)	not provided [RCV001009063]	likely pathogenic	10	101010704	101010704	Human		name
26899794	CV836537	single nucleotide variant	NM_001195263.2(PDZD7):c.845C>T (p.Thr282Met)	not provided [RCV001067389]	uncertain significance	10	101021820	101021820	Human		name
26885405	CV836538	single nucleotide variant	NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn)	Hearing impairment [RCV001375109]\|Retinal dystrophy [RCV004813628]\|not provided [RCV001053461]	uncertain significance	10	101021863	101021863	Human	4	name
26885606	CV836539	single nucleotide variant	NM_001195263.2(PDZD7):c.583G>C (p.Gly195Arg)	not provided [RCV001053792]	uncertain significance	10	101022345	101022345	Human		name
26918791	CV836540	single nucleotide variant	NM_001195263.2(PDZD7):c.539C>T (p.Thr180Met)	not provided [RCV001044257]	uncertain significance	10	101023439	101023439	Human		name
26899763	CV836541	single nucleotide variant	NM_001195263.2(PDZD7):c.448G>A (p.Val150Ile)	Inborn genetic diseases [RCV004649449]\|not provided [RCV001067380]	uncertain significance	10	101023530	101023530	Human	1	name
26894926	CV836542	single nucleotide variant	NM_001195263.2(PDZD7):c.382T>C (p.Cys128Arg)	Inborn genetic diseases [RCV002555828]\|not provided [RCV001063743]	uncertain significance	10	101023596	101023596	Human	1	name
26920936	CV836543	single nucleotide variant	NM_001195263.2(PDZD7):c.371G>A (p.Arg124Gln)	not provided [RCV001048874]	uncertain significance	10	101023607	101023607	Human		name
26895949	CV836544	single nucleotide variant	NM_001195263.2(PDZD7):c.337G>A (p.Val113Ile)	not provided [RCV001064350]	uncertain significance	10	101023958	101023958	Human		name
26899742	CV836545	single nucleotide variant	NM_001195263.2(PDZD7):c.319C>T (p.His107Tyr)	not provided [RCV001067376]	uncertain significance	10	101023976	101023976	Human		name
26902727	CV857673	single nucleotide variant	NM_001195263.2(PDZD7):c.680G>A (p.Arg227His)	Hearing loss, autosomal recessive 57 [RCV001089564]\|not provided [RCV001862658]	uncertain significance	10	101022248	101022248	Human	1	name
28909150	CV859778	deletion	NM_001195263.2(PDZD7):c.1337del (p.Gln446fs)	not provided [RCV001093425]	pathogenic	10	101018284	101018284	Human		name
28898899	CV904068	deletion	NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)	Hearing loss, autosomal recessive 57 [RCV001171317]\|Inborn genetic diseases [RCV002559641]\|not provided [RCV001664724]	pathogenic\|likely pathogenic	10	101010800	101010800	Human	2	name
38458474	CV918314	single nucleotide variant	NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=)	not provided [RCV001522364]\|not specified [RCV001195204]	benign\|likely benign	10	101008491	101008491	Human		name
38458597	CV918320	single nucleotide variant	NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser)	Inborn genetic diseases [RCV002560193]\|not provided [RCV001362868]\|not specified [RCV001195257]	uncertain significance	10	101020672	101020672	Human	1	name
38489770	CV925722	single nucleotide variant	NM_001195263.2(PDZD7):c.406G>A (p.Val136Met)	not provided [RCV001221850]	uncertain significance	10	101023572	101023572	Human		name
38482343	CV934919	single nucleotide variant	NM_001195263.2(PDZD7):c.926G>C (p.Arg309Pro)	Inborn genetic diseases [RCV004960537]\|not provided [RCV001207222]	uncertain significance	10	101020620	101020620	Human	1	name
38470601	CV934920	single nucleotide variant	NM_001195263.2(PDZD7):c.313T>G (p.Ser105Ala)	not provided [RCV001213607]	uncertain significance	10	101023982	101023982	Human		name
38471150	CV946767	deletion	NM_001195263.2(PDZD7):c.2850del (p.Ser953fs)	Hearing loss, autosomal recessive 57 [RCV001249835]\|not provided [RCV001228036]	conflicting interpretations of pathogenicity\|uncertain significance	10	101008719	101008719	Human	1	name
38478329	CV946778	single nucleotide variant	NM_001195263.2(PDZD7):c.763G>A (p.Gly255Arg)	Inborn genetic diseases [RCV005394853]\|not provided [RCV001233873]	uncertain significance	10	101021902	101021902	Human	1	name
38478113	CV946779	single nucleotide variant	NM_001195263.2(PDZD7):c.728A>G (p.His243Arg)	Inborn genetic diseases [RCV004033212]\|not provided [RCV001233788]	uncertain significance	10	101021937	101021937	Human	1	name
38494875	CV946780	single nucleotide variant	NM_001195263.2(PDZD7):c.652G>A (p.Asp218Asn)	Inborn genetic diseases [RCV004960582]\|PDZD7-related disorder [RCV004738200]\|not provided [RCV001225364]	uncertain significance	10	101022276	101022276	Human	1	name , alternate_id
38494836	CV946781	single nucleotide variant	NM_001195263.2(PDZD7):c.548A>T (p.Asp183Val)	not provided [RCV001225340]	uncertain significance	10	101022380	101022380	Human		name
38498727	CV955961	single nucleotide variant	NM_001195263.2(PDZD7):c.773T>A (p.Val258Asp)	not provided [RCV001244000]	uncertain significance	10	101021892	101021892	Human		name
38493502	CV955962	single nucleotide variant	NM_001195263.2(PDZD7):c.622C>T (p.Arg208Trp)	not provided [RCV001240718]	uncertain significance	10	101022306	101022306	Human		name
38491856	CV955963	single nucleotide variant	NM_001195263.2(PDZD7):c.346G>A (p.Val116Met)	not provided [RCV001239713]	uncertain significance	10	101023949	101023949	Human		name
126745916	CV993656	single nucleotide variant	NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln)	Inborn genetic diseases [RCV003166738]\|not provided [RCV001306038]	uncertain significance	10	101020620	101020620	Human	1	name
126738777	CV993657	single nucleotide variant	NM_001195263.2(PDZD7):c.623G>T (p.Arg208Leu)	not provided [RCV001295526]	uncertain significance	10	101022305	101022305	Human		name
126735968	CV993658	single nucleotide variant	NM_001195263.2(PDZD7):c.623G>A (p.Arg208Gln)	not provided [RCV001304676]	uncertain significance	10	101022305	101022305	Human		name
126742561	CV993659	single nucleotide variant	NM_001195263.2(PDZD7):c.440G>A (p.Gly147Asp)	not provided [RCV001296064]	uncertain significance	10	101023538	101023538	Human		name
126759583	CV993660	single nucleotide variant	NM_001195263.2(PDZD7):c.301G>A (p.Val101Met)	not provided [RCV001299529]	uncertain significance	10	101023994	101023994	Human		name
126765740	CV1008824	single nucleotide variant	NM_001195263.2(PDZD7):c.2594T>G (p.Leu865Arg)	not provided [RCV001320163]	uncertain significance	10	101010295	101010295	Human		name
126751631	CV1008825	single nucleotide variant	NM_001195263.2(PDZD7):c.2218C>T (p.Pro740Ser)	not provided [RCV001326959]	uncertain significance	10	101010671	101010671	Human		name
126735358	CV1008826	single nucleotide variant	NM_001195263.2(PDZD7):c.2186G>A (p.Arg729Gln)	not provided [RCV001313709]	uncertain significance	10	101010703	101010703	Human		name
126773047	CV1008827	single nucleotide variant	NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His)	Inborn genetic diseases [RCV002545142]\|not provided [RCV001324099]	uncertain significance	10	101010766	101010766	Human	1	name
126752231	CV1008828	single nucleotide variant	NM_001195263.2(PDZD7):c.2077G>A (p.Glu693Lys)	not provided [RCV001327074]	uncertain significance	10	101010812	101010812	Human		name
126739152	CV1008829	single nucleotide variant	NM_001195263.2(PDZD7):c.1799T>A (p.Ile600Asn)	not provided [RCV001325010]	uncertain significance	10	101012209	101012209	Human		name
126757478	CV1008830	single nucleotide variant	NM_001195263.2(PDZD7):c.1662G>C (p.Trp554Cys)	not provided [RCV001317501]	uncertain significance	10	101015723	101015723	Human		name
126741291	CV1008831	single nucleotide variant	NM_001195263.2(PDZD7):c.1621T>C (p.Ser541Pro)	not provided [RCV001314497]	uncertain significance	10	101015764	101015764	Human		name
126770743	CV1008832	single nucleotide variant	NM_001195263.2(PDZD7):c.1115C>T (p.Thr372Met)	not provided [RCV001322754]	uncertain significance	10	101019031	101019031	Human		name
126759793	CV1008833	single nucleotide variant	NM_001195263.2(PDZD7):c.1106C>T (p.Ala369Val)	not provided [RCV001318161]	uncertain significance	10	101019040	101019040	Human		name
126750056	CV1008834	single nucleotide variant	NM_001195263.2(PDZD7):c.1102A>G (p.Thr368Ala)	not provided [RCV001315839]	uncertain significance	10	101019044	101019044	Human		name
126731999	CV1008835	single nucleotide variant	NM_001195263.2(PDZD7):c.1022C>T (p.Ser341Phe)	not provided [RCV001313134]	uncertain significance	10	101019124	101019124	Human		name
126737223	CV1017240	single nucleotide variant	NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His)	Usher syndrome type 2C [RCV001328704]	uncertain significance	10	101010457	101010457	Human	1	name
126739127	CV1029388	deletion	NM_001195263.2(PDZD7):c.3045del (p.Ser1016fs)	not provided [RCV001350565]	uncertain significance	10	101008524	101008524	Human		name
126767310	CV1029389	single nucleotide variant	NM_001195263.2(PDZD7):c.2863C>T (p.Arg955Trp)	not provided [RCV001342772]	uncertain significance	10	101008706	101008706	Human		name
126747957	CV1029390	single nucleotide variant	NM_001195263.2(PDZD7):c.2675A>C (p.Lys892Thr)	not provided [RCV001337565]	uncertain significance	10	101009293	101009293	Human		name
126726529	CV1029391	single nucleotide variant	NM_001195263.2(PDZD7):c.2360G>A (p.Gly787Asp)	not provided [RCV001348483]	uncertain significance	10	101010529	101010529	Human		name
126749765	CV1029394	single nucleotide variant	NM_001195263.2(PDZD7):c.2328C>A (p.Ser776Arg)	not provided [RCV001337912]	uncertain significance	10	101010561	101010561	Human		name
126774185	CV1029396	single nucleotide variant	NM_001195263.2(PDZD7):c.2158G>T (p.Val720Leu)	not provided [RCV001346929]	uncertain significance	10	101010731	101010731	Human		name
126749847	CV1029397	single nucleotide variant	NM_001195263.2(PDZD7):c.1976C>T (p.Pro659Leu)	not provided [RCV001337925]	uncertain significance	10	101011719	101011719	Human		name
126771373	CV1029398	single nucleotide variant	NM_001195263.2(PDZD7):c.1748G>A (p.Arg583Gln)	not provided [RCV001345006]	uncertain significance	10	101015637	101015637	Human		name
126733707	CV1029399	single nucleotide variant	NM_001195263.2(PDZD7):c.1705C>A (p.Leu569Met)	not provided [RCV001349825]	uncertain significance	10	101015680	101015680	Human		name
126764949	CV1029400	single nucleotide variant	NM_001195263.2(PDZD7):c.1669C>T (p.Arg557Trp)	not provided [RCV001341847]	uncertain significance	10	101015716	101015716	Human		name
126766245	CV1029401	single nucleotide variant	NM_001195263.2(PDZD7):c.1515A>G (p.Ile505Met)	not provided [RCV001342347]	uncertain significance	10	101018106	101018106	Human		name
126767546	CV1029402	single nucleotide variant	NM_001195263.2(PDZD7):c.1424G>A (p.Gly475Glu)	not provided [RCV001342863]	uncertain significance	10	101018197	101018197	Human		name
126915668	CV1046365	single nucleotide variant	NM_001195263.2(PDZD7):c.2698T>C (p.Phe900Leu)	not provided [RCV001371051]	uncertain significance	10	101009270	101009270	Human		name
126918952	CV1046367	single nucleotide variant	NM_001195263.2(PDZD7):c.2551G>A (p.Ala851Thr)	not provided [RCV001362022]	uncertain significance	10	101010338	101010338	Human		name
126908429	CV1046368	single nucleotide variant	NM_001195263.2(PDZD7):c.2381G>A (p.Arg794Lys)	not provided [RCV001367850]	uncertain significance	10	101010508	101010508	Human		name
126923199	CV1046370	single nucleotide variant	NM_001195263.2(PDZD7):c.2306G>A (p.Arg769Gln)	not provided [RCV001365566]	uncertain significance	10	101010583	101010583	Human		name
126920754	CV1046372	single nucleotide variant	NM_001195263.2(PDZD7):c.2110G>T (p.Ala704Ser)	not provided [RCV001373995]	uncertain significance	10	101010779	101010779	Human		name
126924090	CV1046373	single nucleotide variant	NM_001195263.2(PDZD7):c.2107A>G (p.Ser703Gly)	not provided [RCV001366618]	uncertain significance	10	101010782	101010782	Human		name
126918351	CV1046374	single nucleotide variant	NM_001195263.2(PDZD7):c.1760A>T (p.Glu587Val)	not provided [RCV001361676]	uncertain significance	10	101012248	101012248	Human		name
126917947	CV1046375	single nucleotide variant	NM_001195263.2(PDZD7):c.1670G>A (p.Arg557Gln)	not provided [RCV001361452]	uncertain significance	10	101015715	101015715	Human		name
126923966	CV1046376	single nucleotide variant	NM_001195263.2(PDZD7):c.1664A>G (p.Glu555Gly)	not provided [RCV001366466]	uncertain significance	10	101015721	101015721	Human		name
126917041	CV1046377	single nucleotide variant	NM_001195263.2(PDZD7):c.1589G>A (p.Arg530Gln)	not provided [RCV001360934]	uncertain significance	10	101015796	101015796	Human		name
126915887	CV1046378	single nucleotide variant	NM_001195263.2(PDZD7):c.1571G>A (p.Arg524His)	Inborn genetic diseases [RCV002547743]\|not provided [RCV001360247]	uncertain significance	10	101016379	101016379	Human	1	name
126923356	CV1046379	single nucleotide variant	NM_001195263.2(PDZD7):c.1531G>A (p.Val511Met)	not provided [RCV001365749]	uncertain significance	10	101016419	101016419	Human		name
126924639	CV1046380	single nucleotide variant	NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg)	not provided [RCV001367257]\|not specified [RCV001449718]	uncertain significance	10	101018136	101018136	Human		name
126915964	CV1046381	single nucleotide variant	NM_001195263.2(PDZD7):c.1379C>T (p.Ala460Val)	Inborn genetic diseases [RCV002550127]\|not provided [RCV001371224]	uncertain significance	10	101018242	101018242	Human	1	name
126908681	CV1046382	single nucleotide variant	NM_001195263.2(PDZD7):c.1255G>T (p.Ala419Ser)	not provided [RCV001368069]	uncertain significance	10	101018891	101018891	Human		name
126908569	CV1046383	single nucleotide variant	NM_001195263.2(PDZD7):c.1216C>T (p.Arg406Cys)	not provided [RCV001368005]	uncertain significance	10	101018930	101018930	Human		name
126922166	CV1046384	single nucleotide variant	NM_001195263.2(PDZD7):c.1069G>A (p.Gly357Ser)	not provided [RCV001364347]	uncertain significance	10	101019077	101019077	Human		name
126908932	CV1046385	single nucleotide variant	NM_001195263.2(PDZD7):c.1031C>T (p.Ser344Leu)	not provided [RCV001368153]	uncertain significance	10	101019115	101019115	Human		name
126910698	CV1053293	single nucleotide variant	NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr)	Hearing impairment [RCV001375315]\|not provided [RCV001865877]	uncertain significance	10	101009273	101009273	Human	2	name
126910556	CV1053294	single nucleotide variant	NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr)	Hearing impairment [RCV001375231]	uncertain significance	10	101009344	101009344	Human	2	name
126910804	CV1053295	single nucleotide variant	NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu)	Hearing impairment [RCV001375409]	uncertain significance	10	101010856	101010856	Human	2	name
127262991	CV1098501	single nucleotide variant	NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln)	Inborn genetic diseases [RCV002559301]\|not provided [RCV001439182]	likely benign\|uncertain significance	10	101019010	101019010	Human	1	name
127328078	CV1120080	single nucleotide variant	NM_001195263.2(PDZD7):c.2329C>T (p.Arg777Cys)	not provided [RCV001469420]	likely benign	10	101010560	101010560	Human		name
127285979	CV1140923	single nucleotide variant	NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr)	Hearing loss, autosomal recessive [RCV002471111]\|not provided [RCV001493941]	likely benign\|uncertain significance	10	101018879	101018879	Human	2	name
127300113	CV1156331	single nucleotide variant	NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser)	not provided [RCV001513981]	benign\|likely benign	10	101011753	101011753	Human		name
127320953	CV1156332	single nucleotide variant	NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly)	not provided [RCV001522882]	benign\|likely benign	10	101011942	101011942	Human		name
127317605	CV1156334	single nucleotide variant	NM_001195263.2(PDZD7):c.1579G>A (p.Glu527Lys)	not provided [RCV001521197]	benign	10	101015806	101015806	Human		name
150434351	CV1243929	single nucleotide variant	NM_001195263.2(PDZD7):c.2903G>A (p.Gly968Asp)	not provided [RCV001665136]	uncertain significance	10	101008666	101008666	Human		name
150548949	CV1293989	single nucleotide variant	NM_001195263.2(PDZD7):c.2806C>T (p.Arg936Ter)	not provided [RCV001764829]	uncertain significance	10	101008763	101008763	Human		name
150540690	CV1296085	single nucleotide variant	NM_001195263.2(PDZD7):c.1529G>T (p.Gly510Val)	not provided [RCV001760554]	uncertain significance	10	101016421	101016421	Human		name
150543195	CV1315136	single nucleotide variant	NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)	Hearing loss, autosomal recessive 57 [RCV003333179]\|Usher syndrome type 2C [RCV003147675]\|not provided [RCV001782592]	pathogenic\|likely pathogenic	10	101016407	101016407	Human	3	name
151661158	CV1332545	single nucleotide variant	NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg)	Hearing loss, autosomal recessive 57 [RCV001834550]	uncertain significance	10	101010536	101010536	Human	1	name
151763454	CV1339249	single nucleotide variant	NM_001195263.2(PDZD7):c.2230C>T (p.Arg744Trp)	not provided [RCV002008135]	uncertain significance	10	101010659	101010659	Human		name
151754012	CV1339944	single nucleotide variant	NM_001195263.2(PDZD7):c.1526G>C (p.Gly509Ala)	not provided [RCV001894620]	uncertain significance	10	101016424	101016424	Human		name
151781810	CV1341935	single nucleotide variant	NM_001195263.2(PDZD7):c.2446C>T (p.Arg816Trp)	not provided [RCV001897313]	uncertain significance	10	101010443	101010443	Human		name
151776606	CV1342614	single nucleotide variant	NM_001195263.2(PDZD7):c.1075C>G (p.Arg359Gly)	not provided [RCV001988745]	uncertain significance	10	101019071	101019071	Human		name
151783994	CV1344650	single nucleotide variant	NM_001195263.2(PDZD7):c.2846T>A (p.Val949Asp)	not provided [RCV001989391]	uncertain significance	10	101008723	101008723	Human		name
151839117	CV1344980	single nucleotide variant	NM_001195263.2(PDZD7):c.2794C>T (p.Arg932Cys)	not provided [RCV002015114]	uncertain significance	10	101008775	101008775	Human		name
151851982	CV1346126	single nucleotide variant	NM_001195263.2(PDZD7):c.2440A>T (p.Lys814Ter)	not provided [RCV001958118]	pathogenic	10	101010449	101010449	Human		name
151851498	CV1349592	single nucleotide variant	NM_001195263.2(PDZD7):c.2017G>C (p.Gly673Arg)	not provided [RCV001958055]	uncertain significance	10	101010872	101010872	Human		name
151822329	CV1352001	single nucleotide variant	NM_001195263.2(PDZD7):c.1489G>T (p.Ala497Ser)	not provided [RCV002013508]	uncertain significance	10	101018132	101018132	Human		name
151796538	CV1352463	single nucleotide variant	NM_001195263.2(PDZD7):c.1516G>C (p.Glu506Gln)	not provided [RCV001876993]	uncertain significance	10	101018105	101018105	Human		name
151793782	CV1353826	single nucleotide variant	NM_001195263.2(PDZD7):c.2142C>G (p.Ile714Met)	not provided [RCV001990317]	uncertain significance	10	101010747	101010747	Human		name
151806330	CV1359637	single nucleotide variant	NM_001195263.2(PDZD7):c.1907C>T (p.Ala636Val)	not provided [RCV002028557]	uncertain significance	10	101011951	101011951	Human		name
151876294	CV1360199	single nucleotide variant	NM_001195263.2(PDZD7):c.1936C>T (p.Arg646Trp)	Inborn genetic diseases [RCV002548005]\|not provided [RCV001907106]	uncertain significance	10	101011759	101011759	Human	1	name
151836201	CV1367114	single nucleotide variant	NM_001195263.2(PDZD7):c.2762A>G (p.Gln921Arg)	not provided [RCV001994217]	uncertain significance	10	101008807	101008807	Human		name
151856577	CV1372687	single nucleotide variant	NM_001195263.2(PDZD7):c.1198G>A (p.Asp400Asn)	not provided [RCV002033847]	uncertain significance	10	101018948	101018948	Human		name
151856867	CV1372787	single nucleotide variant	NM_001195263.2(PDZD7):c.1885G>A (p.Val629Met)	not provided [RCV002033884]	uncertain significance	10	101011973	101011973	Human		name
151711338	CV1373638	single nucleotide variant	NM_001195263.2(PDZD7):c.2452G>T (p.Ala818Ser)	not provided [RCV001889448]	uncertain significance	10	101010437	101010437	Human		name
151876042	CV1376395	single nucleotide variant	NM_001195263.2(PDZD7):c.1811C>A (p.Pro604Gln)	not provided [RCV002019548]	uncertain significance	10	101012197	101012197	Human		name
151812553	CV1376894	single nucleotide variant	NM_001195263.2(PDZD7):c.2246A>T (p.Asn749Ile)	not provided [RCV001900094]	uncertain significance	10	101010643	101010643	Human		name
151858257	CV1377564	single nucleotide variant	NM_001195263.2(PDZD7):c.1736G>A (p.Arg579His)	not provided [RCV001938215]	uncertain significance	10	101015649	101015649	Human		name
151851656	CV1378185	single nucleotide variant	NM_001195263.2(PDZD7):c.2705G>A (p.Ser902Asn)	not provided [RCV002016669]	uncertain significance	10	101009263	101009263	Human		name
151865280	CV1380964	single nucleotide variant	NM_001195263.2(PDZD7):c.2147C>T (p.Pro716Leu)	not provided [RCV002018262]	uncertain significance	10	101010742	101010742	Human		name
151750292	CV1381093	single nucleotide variant	NM_001195263.2(PDZD7):c.2902G>T (p.Gly968Cys)	not provided [RCV002023311]	uncertain significance	10	101008667	101008667	Human		name
151865614	CV1381118	single nucleotide variant	NM_001195263.2(PDZD7):c.2396C>T (p.Pro799Leu)	not provided [RCV002018300]	uncertain significance	10	101010493	101010493	Human		name
151844440	CV1381423	single nucleotide variant	NM_001195263.2(PDZD7):c.2455A>G (p.Arg819Gly)	not provided [RCV001881758]	uncertain significance	10	101010434	101010434	Human		name
151756463	CV1381859	single nucleotide variant	NM_001195263.2(PDZD7):c.2047C>T (p.Pro683Ser)	not provided [RCV001969709]	uncertain significance	10	101010842	101010842	Human		name
151839060	CV1382843	single nucleotide variant	NM_001195263.2(PDZD7):c.2323C>T (p.Arg775Cys)	not provided [RCV002031600]	uncertain significance	10	101010566	101010566	Human		name
151830367	CV1384418	single nucleotide variant	NM_001195263.2(PDZD7):c.1449C>A (p.Asp483Glu)	not provided [RCV001955622]	uncertain significance	10	101018172	101018172	Human		name
151763933	CV1384486	single nucleotide variant	NM_001195263.2(PDZD7):c.1811C>T (p.Pro604Leu)	not provided [RCV001987586]	uncertain significance	10	101012197	101012197	Human		name
151887251	CV1386164	single nucleotide variant	NM_001195263.2(PDZD7):c.1355C>T (p.Ser452Leu)	not provided [RCV001942348]	uncertain significance	10	101018266	101018266	Human		name
151874707	CV1388213	single nucleotide variant	NM_001195263.2(PDZD7):c.2273G>A (p.Arg758Gln)	not provided [RCV001981753]	uncertain significance	10	101010616	101010616	Human		name
151849644	CV1389610	single nucleotide variant	NM_001195263.2(PDZD7):c.1693G>T (p.Ala565Ser)	not provided [RCV001937177]	uncertain significance	10	101015692	101015692	Human		name
151735771	CV1391429	single nucleotide variant	NM_001195263.2(PDZD7):c.2629T>G (p.Ser877Ala)	not provided [RCV002005283]	uncertain significance	10	101009339	101009339	Human		name
151747663	CV1399386	single nucleotide variant	NM_001195263.2(PDZD7):c.1649A>G (p.Gln550Arg)	not provided [RCV001927164]	uncertain significance	10	101015736	101015736	Human		name
151745234	CV1401705	single nucleotide variant	NM_001195263.2(PDZD7):c.1813G>A (p.Glu605Lys)	not provided [RCV001947518]	uncertain significance	10	101012195	101012195	Human		name
151858096	CV1402137	single nucleotide variant	NM_001195263.2(PDZD7):c.1213G>C (p.Gly405Arg)	not provided [RCV002017427]	uncertain significance	10	101018933	101018933	Human		name
151746010	CV1402611	single nucleotide variant	NM_001195263.2(PDZD7):c.2410G>A (p.Ala804Thr)	not provided [RCV001912427]	uncertain significance	10	101010479	101010479	Human		name
151799469	CV1403887	single nucleotide variant	NM_001195263.2(PDZD7):c.2780C>T (p.Ala927Val)	not provided [RCV001973774]	uncertain significance	10	101008789	101008789	Human		name
151744263	CV1404650	single nucleotide variant	NM_001195263.2(PDZD7):c.1915G>A (p.Ala639Thr)	not provided [RCV002022640]	uncertain significance	10	101011943	101011943	Human		name
151744634	CV1408894	single nucleotide variant	NM_001195263.2(PDZD7):c.1890G>A (p.Met630Ile)	not provided [RCV002042594]	uncertain significance	10	101011968	101011968	Human		name
151709601	CV1409313	single nucleotide variant	NM_001195263.2(PDZD7):c.1149G>C (p.Trp383Cys)	Inborn genetic diseases [RCV003375389]\|not provided [RCV001907710]	uncertain significance	10	101018997	101018997	Human	1	name
151748360	CV1412038	single nucleotide variant	NM_001195263.2(PDZD7):c.1322G>C (p.Trp441Ser)	not provided [RCV001927248]	uncertain significance	10	101018824	101018824	Human		name
151868917	CV1413430	single nucleotide variant	NM_001195263.2(PDZD7):c.2725T>C (p.Phe909Leu)	not provided [RCV002018688]	uncertain significance	10	101008844	101008844	Human		name
151799489	CV1417412	single nucleotide variant	NM_001195263.2(PDZD7):c.2890C>G (p.Leu964Val)	not provided [RCV002047849]	uncertain significance	10	101008679	101008679	Human		name
151772279	CV1417973	single nucleotide variant	NM_001195263.2(PDZD7):c.1450G>A (p.Gly484Arg)	not provided [RCV001874571]	uncertain significance	10	101018171	101018171	Human		name
151721506	CV1419548	single nucleotide variant	NM_001195263.2(PDZD7):c.2798G>A (p.Arg933Gln)	not provided [RCV001983150]	uncertain significance	10	101008771	101008771	Human		name
151818791	CV1420879	single nucleotide variant	NM_001195263.2(PDZD7):c.1323G>C (p.Trp441Cys)	not provided [RCV002049584]	uncertain significance	10	101018823	101018823	Human		name
151793385	CV1423072	single nucleotide variant	NM_001195263.2(PDZD7):c.1588C>G (p.Arg530Gly)	not provided [RCV001917033]	uncertain significance	10	101015797	101015797	Human		name
151762635	CV1425529	single nucleotide variant	NM_001195263.2(PDZD7):c.1652T>G (p.Val551Gly)	not provided [RCV001928704]	uncertain significance	10	101015733	101015733	Human		name
151806776	CV1426283	single nucleotide variant	NM_001195263.2(PDZD7):c.2188A>G (p.Ile730Val)	not provided [RCV001974407]	uncertain significance	10	101010701	101010701	Human		name
151830573	CV1426466	single nucleotide variant	NM_001195263.2(PDZD7):c.2795G>A (p.Arg932His)	not provided [RCV001976610]	uncertain significance	10	101008774	101008774	Human		name
151824796	CV1429410	single nucleotide variant	NM_001195263.2(PDZD7):c.2272C>T (p.Arg758Ter)	not provided [RCV001993129]	pathogenic	10	101010617	101010617	Human		name
151763726	CV1434016	single nucleotide variant	NM_001195263.2(PDZD7):c.1870C>T (p.Arg624Cys)	not provided [RCV002024669]	uncertain significance	10	101011988	101011988	Human		name
151886098	CV1435436	single nucleotide variant	NM_001195263.2(PDZD7):c.2239C>T (p.Arg747Trp)	not provided [RCV001962690]	uncertain significance	10	101010650	101010650	Human		name
151870344	CV1436751	single nucleotide variant	NM_001195263.2(PDZD7):c.1208A>G (p.His403Arg)	not provided [RCV002018854]	uncertain significance	10	101018938	101018938	Human		name
151797444	CV1446671	single nucleotide variant	NM_001195263.2(PDZD7):c.2354G>A (p.Ser785Asn)	not provided [RCV002027775]	uncertain significance	10	101010535	101010535	Human		name
151825982	CV1447144	single nucleotide variant	NM_001195263.2(PDZD7):c.2240G>A (p.Arg747Gln)	not provided [RCV001870065]	uncertain significance	10	101010649	101010649	Human		name
151763181	CV1447474	single nucleotide variant	NM_001195263.2(PDZD7):c.2421G>A (p.Met807Ile)	not provided [RCV001895572]	uncertain significance	10	101010468	101010468	Human		name
151734234	CV1452952	single nucleotide variant	NM_001195263.2(PDZD7):c.2024A>G (p.Tyr675Cys)	not provided [RCV002041516]	uncertain significance	10	101010865	101010865	Human		name
151852156	CV1458942	single nucleotide variant	NM_001195263.2(PDZD7):c.1123G>A (p.Asp375Asn)	not provided [RCV002016735]	uncertain significance	10	101019023	101019023	Human		name
151761610	CV1459717	single nucleotide variant	NM_001195263.2(PDZD7):c.1657G>T (p.Ala553Ser)	not provided [RCV002044346]	uncertain significance	10	101015728	101015728	Human		name
151876828	CV1460100	single nucleotide variant	NM_001195263.2(PDZD7):c.2776C>T (p.Arg926Cys)	not provided [RCV002036358]	uncertain significance	10	101008793	101008793	Human		name
151840743	CV1463004	single nucleotide variant	NM_001195263.2(PDZD7):c.2356C>T (p.Arg786Trp)	not provided [RCV002031789]	uncertain significance	10	101010533	101010533	Human		name
151735876	CV1465891	single nucleotide variant	NM_001195263.2(PDZD7):c.2383C>T (p.Arg795Cys)	not provided [RCV002041706]	uncertain significance	10	101010506	101010506	Human		name
151824008	CV1466365	single nucleotide variant	NM_001195263.2(PDZD7):c.2843G>C (p.Arg948Thr)	not provided [RCV001879486]	uncertain significance	10	101008726	101008726	Human		name
151747321	CV1478584	single nucleotide variant	NM_001195263.2(PDZD7):c.2644T>C (p.Ser882Pro)	not provided [RCV002022978]	uncertain significance	10	101009324	101009324	Human		name
151827840	CV1479864	single nucleotide variant	NM_001195263.2(PDZD7):c.1591G>A (p.Ala531Thr)	not provided [RCV001901508]	uncertain significance	10	101015794	101015794	Human		name
151800480	CV1480137	single nucleotide variant	NM_001195263.2(PDZD7):c.1363C>T (p.Pro455Ser)	not provided [RCV001899017]	uncertain significance	10	101018258	101018258	Human		name
151860383	CV1482950	single nucleotide variant	NM_001195263.2(PDZD7):c.1090G>C (p.Gly364Arg)	not provided [RCV001883844]	uncertain significance	10	101019056	101019056	Human		name
151817488	CV1485843	single nucleotide variant	NM_001195263.2(PDZD7):c.2879A>C (p.Asp960Ala)	not provided [RCV002029564]	uncertain significance	10	101008690	101008690	Human		name
151766487	CV1485957	single nucleotide variant	NM_001195263.2(PDZD7):c.2459C>A (p.Pro820His)	not provided [RCV002044826]	uncertain significance	10	101010430	101010430	Human		name
151839393	CV1487585	single nucleotide variant	NM_001195263.2(PDZD7):c.1228T>G (p.Ser410Ala)	not provided [RCV001935920]	uncertain significance	10	101018918	101018918	Human		name
151727779	CV1488554	single nucleotide variant	NM_001195263.2(PDZD7):c.1921A>G (p.Lys641Glu)	not provided [RCV001966798]	uncertain significance	10	101011937	101011937	Human		name
151828008	CV1489014	single nucleotide variant	NM_001195263.2(PDZD7):c.1747C>T (p.Arg583Trp)	Retinal dystrophy [RCV004815683]\|not provided [RCV001934779]	uncertain significance	10	101015638	101015638	Human	2	name
151834194	CV1489040	single nucleotide variant	NM_001195263.2(PDZD7):c.1060G>A (p.Glu354Lys)	not provided [RCV001902112]	uncertain significance	10	101019086	101019086	Human		name
151721794	CV1489578	single nucleotide variant	NM_001195263.2(PDZD7):c.2444C>T (p.Pro815Leu)	not provided [RCV001891212]	uncertain significance	10	101010445	101010445	Human		name
151764022	CV1499457	single nucleotide variant	NM_001195263.2(PDZD7):c.2797C>T (p.Arg933Trp)	not provided [RCV001863424]	uncertain significance	10	101008772	101008772	Human		name
151794637	CV1504282	single nucleotide variant	NM_001195263.2(PDZD7):c.2798G>C (p.Arg933Pro)	not provided [RCV002011013]	uncertain significance	10	101008771	101008771	Human		name
151721085	CV1506849	single nucleotide variant	NM_001195263.2(PDZD7):c.1501C>T (p.Pro501Ser)	not provided [RCV001909736]	uncertain significance	10	101018120	101018120	Human		name
151866256	CV1508224	single nucleotide variant	NM_001195263.2(PDZD7):c.1094G>A (p.Arg365Gln)	Inborn genetic diseases [RCV005382305]\|not provided [RCV001997765]	uncertain significance	10	101019052	101019052	Human	1	name
151752514	CV1512519	single nucleotide variant	NM_001195263.2(PDZD7):c.1505G>T (p.Arg502Leu)	not provided [RCV002043429]	uncertain significance	10	101018116	101018116	Human		name
151797737	CV1512916	single nucleotide variant	NM_001195263.2(PDZD7):c.2611T>A (p.Ser871Thr)	not provided [RCV001866842]	uncertain significance	10	101010278	101010278	Human		name
151828675	CV1513903	single nucleotide variant	NM_001195263.2(PDZD7):c.1871G>A (p.Arg624His)	not provided [RCV001955460]	uncertain significance	10	101011987	101011987	Human		name
153002401	CV1685520	single nucleotide variant	NM_001195263.2(PDZD7):c.2020T>C (p.Phe674Leu)	not provided [RCV002259507]	uncertain significance	10	101010869	101010869	Human		name
153302310	CV1688166	single nucleotide variant	NM_001195263.2(PDZD7):c.1739A>C (p.His580Pro)	not provided [RCV002265392]	uncertain significance	10	101015646	101015646	Human		name
153348742	CV1692786	single nucleotide variant	NM_001195263.2(PDZD7):c.2068G>A (p.Glu690Lys)	not provided [RCV002274642]	uncertain significance	10	101010821	101010821	Human		name
153348859	CV1692904	single nucleotide variant	NM_001195263.2(PDZD7):c.2237T>A (p.Leu746Gln)	not provided [RCV002274760]	uncertain significance	10	101010652	101010652	Human		name
9689673	CV174582	single nucleotide variant	NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)	not provided [RCV001432330]\|not specified [RCV000155272]	likely benign\|conflicting interpretations of pathogenicity	10	101010532	101010532	Human		name
155671087	CV1771066	single nucleotide variant	NM_001195263.2(PDZD7):c.1340G>A (p.Arg447Gln)	not provided [RCV002297367]	uncertain significance	10	101018281	101018281	Human		name
155666225	CV1773366	single nucleotide variant	NM_001195263.2(PDZD7):c.2012G>T (p.Arg671Leu)	not provided [RCV002297078]	uncertain significance	10	101010877	101010877	Human		name
155946365	CV1872126	single nucleotide variant	NM_001195263.2(PDZD7):c.2224G>A (p.Ala742Thr)	not provided [RCV003073872]	uncertain significance	10	101010665	101010665	Human		name
156413426	CV1887909	deletion	NM_001195263.2(PDZD7):c.3026del (p.Pro1009fs)	not provided [RCV003073285]	uncertain significance	10	101008543	101008543	Human		name
155991918	CV1894412	single nucleotide variant	NM_001195263.2(PDZD7):c.2459C>G (p.Pro820Arg)	not provided [RCV003076153]	uncertain significance	10	101010430	101010430	Human		name
156221613	CV1899828	single nucleotide variant	NM_001195263.2(PDZD7):c.2324G>A (p.Arg775His)	not provided [RCV003085019]	uncertain significance	10	101010565	101010565	Human		name
156363746	CV1901504	single nucleotide variant	NM_001195263.2(PDZD7):c.2426A>G (p.Asn809Ser)	not provided [RCV002602675]	uncertain significance	10	101010463	101010463	Human		name
156373393	CV1901892	single nucleotide variant	NM_001195263.2(PDZD7):c.1735C>T (p.Arg579Cys)	not provided [RCV003092655]	uncertain significance	10	101015650	101015650	Human		name
156334621	CV1905897	single nucleotide variant	NM_001195263.2(PDZD7):c.1970C>T (p.Thr657Met)	not provided [RCV003089998]	uncertain significance	10	101011725	101011725	Human		name
156006104	CV1906550	single nucleotide variant	NM_001195263.2(PDZD7):c.2728G>A (p.Glu910Lys)	not provided [RCV003099037]	uncertain significance	10	101008841	101008841	Human		name
10050254	CV191651	single nucleotide variant	NM_001195263.2(PDZD7):c.2438A>C (p.His813Pro)	not provided [RCV000174867]	uncertain significance	10	101010451	101010451	Human		name
156280539	CV1922487	single nucleotide variant	NM_001195263.2(PDZD7):c.1101C>G (p.Asp367Glu)	not provided [RCV002628414]	uncertain significance	10	101019045	101019045	Human		name
156436956	CV1936780	single nucleotide variant	NM_001195263.2(PDZD7):c.1958C>A (p.Ala653Asp)	not provided [RCV003106482]	uncertain significance	10	101011737	101011737	Human		name
156415523	CV1958658	single nucleotide variant	NM_001195263.2(PDZD7):c.1018G>A (p.Gly340Ser)	not provided [RCV002589215]	uncertain significance	10	101019128	101019128	Human		name
156335283	CV1966817	single nucleotide variant	NM_001195263.2(PDZD7):c.1040T>G (p.Met347Arg)	not provided [RCV002600998]	uncertain significance	10	101019106	101019106	Human		name
156419485	CV1967220	single nucleotide variant	NM_001195263.2(PDZD7):c.1186G>T (p.Ala396Ser)	not provided [RCV002612722]	uncertain significance	10	101018960	101018960	Human		name
156282225	CV1967997	single nucleotide variant	NM_001195263.2(PDZD7):c.2098G>T (p.Val700Phe)	not provided [RCV002598434]	uncertain significance	10	101010791	101010791	Human		name
156190985	CV1974404	single nucleotide variant	NM_001195263.2(PDZD7):c.1220G>A (p.Arg407His)	not provided [RCV002625419]	uncertain significance	10	101018926	101018926	Human		name
156062802	CV1975228	single nucleotide variant	NM_001195263.2(PDZD7):c.1937G>A (p.Arg646Gln)	not provided [RCV002591033]	uncertain significance	10	101011758	101011758	Human		name
156324388	CV1975507	single nucleotide variant	NM_001195263.2(PDZD7):c.2807G>A (p.Arg936Gln)	not provided [RCV002630562]	uncertain significance	10	101008762	101008762	Human		name
155919314	CV1981168	single nucleotide variant	NM_001195263.2(PDZD7):c.2864G>A (p.Arg955Gln)	not provided [RCV002614473]	uncertain significance	10	101008705	101008705	Human		name
156397700	CV1985373	single nucleotide variant	NM_001195263.2(PDZD7):c.2089G>T (p.Ala697Ser)	not provided [RCV002635667]	uncertain significance	10	101010800	101010800	Human		name
156011273	CV1985926	single nucleotide variant	NM_001195263.2(PDZD7):c.1285C>T (p.Pro429Ser)	not provided [RCV002636235]	uncertain significance	10	101018861	101018861	Human		name
156239266	CV1992481	single nucleotide variant	NM_001195263.2(PDZD7):c.2900G>C (p.Gly967Ala)	not provided [RCV002627074]	uncertain significance	10	101008669	101008669	Human		name
156090321	CV1994284	single nucleotide variant	NM_001195263.2(PDZD7):c.2480A>G (p.Asp827Gly)	not provided [RCV002639196]	uncertain significance	10	101010409	101010409	Human		name
156310909	CV2000077	single nucleotide variant	NM_001195263.2(PDZD7):c.1016C>T (p.Ser339Leu)	not provided [RCV002671629]	uncertain significance	10	101019130	101019130	Human		name
156096253	CV2004628	single nucleotide variant	NM_001195263.2(PDZD7):c.1560G>T (p.Trp520Cys)	not provided [RCV002639409]	uncertain significance	10	101016390	101016390	Human		name
156298333	CV2005621	single nucleotide variant	NM_001195263.2(PDZD7):c.2152C>T (p.Gln718Ter)	not provided [RCV002671045]	pathogenic	10	101010737	101010737	Human		name
156097811	CV2007476	single nucleotide variant	NM_001195263.2(PDZD7):c.2387C>A (p.Ser796Tyr)	not provided [RCV002695188]	uncertain significance	10	101010502	101010502	Human		name
156366523	CV2010781	single nucleotide variant	NM_001195263.2(PDZD7):c.1054G>C (p.Gly352Arg)	not provided [RCV002676598]	uncertain significance	10	101019092	101019092	Human		name
156319456	CV2014371	single nucleotide variant	NM_001195263.2(PDZD7):c.2048C>T (p.Pro683Leu)	not provided [RCV002672094]	uncertain significance	10	101010841	101010841	Human		name
156007785	CV2015137	single nucleotide variant	NM_001195263.2(PDZD7):c.2248T>C (p.Trp750Arg)	not provided [RCV002690355]	uncertain significance	10	101010641	101010641	Human		name
156277400	CV2015159	single nucleotide variant	NM_001195263.2(PDZD7):c.2620A>G (p.Ile874Val)	not provided [RCV002715183]	uncertain significance	10	101009348	101009348	Human		name
156023425	CV2015621	single nucleotide variant	NM_001195263.2(PDZD7):c.2806C>G (p.Arg936Gly)	not provided [RCV002691110]	uncertain significance	10	101008763	101008763	Human		name
156301131	CV2017333	single nucleotide variant	NM_001195263.2(PDZD7):c.1037G>T (p.Arg346Leu)	not provided [RCV002716066]	uncertain significance	10	101019109	101019109	Human		name
155941696	CV2022425	single nucleotide variant	NM_001195263.2(PDZD7):c.2772C>A (p.His924Gln)	not provided [RCV002730159]	uncertain significance	10	101008797	101008797	Human		name
156131485	CV2022757	single nucleotide variant	NM_001195263.2(PDZD7):c.1480G>A (p.Gly494Arg)	not provided [RCV002740581]	uncertain significance	10	101018141	101018141	Human		name
156154831	CV2023262	single nucleotide variant	NM_001195263.2(PDZD7):c.2767A>G (p.Thr923Ala)	not provided [RCV002741342]	uncertain significance	10	101008802	101008802	Human		name
156242961	CV2024662	single nucleotide variant	NM_001195263.2(PDZD7):c.2305C>T (p.Arg769Trp)	not provided [RCV002745725]	uncertain significance	10	101010584	101010584	Human		name
156309397	CV2031437	single nucleotide variant	NM_001195263.2(PDZD7):c.1019G>A (p.Gly340Asp)	not provided [RCV002716443]	uncertain significance	10	101019127	101019127	Human		name
156314824	CV2031824	single nucleotide variant	NM_001195263.2(PDZD7):c.1694C>T (p.Ala565Val)	not provided [RCV002716740]	uncertain significance	10	101015691	101015691	Human		name
156325507	CV2032503	single nucleotide variant	NM_001195263.2(PDZD7):c.2687G>C (p.Gly896Ala)	not provided [RCV002717383]	uncertain significance	10	101009281	101009281	Human		name
155933611	CV2035226	single nucleotide variant	NM_001195263.2(PDZD7):c.2192C>T (p.Ala731Val)	not provided [RCV002751298]	uncertain significance	10	101010697	101010697	Human		name
156013116	CV2038333	single nucleotide variant	NM_001195263.2(PDZD7):c.2818C>T (p.Arg940Trp)	not provided [RCV002780253]	uncertain significance	10	101008751	101008751	Human		name
156265049	CV2054120	single nucleotide variant	NM_001195263.2(PDZD7):c.1861G>A (p.Asp621Asn)	not provided [RCV002792146]	uncertain significance	10	101011997	101011997	Human		name
156327052	CV2054212	single nucleotide variant	NM_001195263.2(PDZD7):c.1237T>G (p.Ser413Ala)	not provided [RCV002810455]	uncertain significance	10	101018909	101018909	Human		name
156103503	CV2061099	single nucleotide variant	NM_001195263.2(PDZD7):c.2158G>A (p.Val720Met)	not provided [RCV002824644]	uncertain significance	10	101010731	101010731	Human		name
156352979	CV2065993	single nucleotide variant	NM_001195263.2(PDZD7):c.2267T>C (p.Leu756Pro)	not provided [RCV002811922]	uncertain significance	10	101010622	101010622	Human		name
155926535	CV2070861	single nucleotide variant	NM_001195263.2(PDZD7):c.2030T>C (p.Leu677Pro)	not provided [RCV002838555]	uncertain significance	10	101010859	101010859	Human		name
156218808	CV2107197	single nucleotide variant	NM_001195263.2(PDZD7):c.1570C>A (p.Arg524Ser)	not provided [RCV002918476]	uncertain significance	10	101016380	101016380	Human		name
156390372	CV2122428	single nucleotide variant	NM_001195263.2(PDZD7):c.1097C>A (p.Ala366Glu)	Inborn genetic diseases [RCV004654064]\|not provided [RCV002943837]	uncertain significance	10	101019049	101019049	Human	1	name
156012848	CV2123019	single nucleotide variant	NM_001195263.2(PDZD7):c.2968C>T (p.Leu990Phe)	not provided [RCV002975740]	uncertain significance	10	101008601	101008601	Human		name
156385946	CV2125516	single nucleotide variant	NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)	PDZD7-related disorder [RCV003155499]\|not provided [RCV002943484]	pathogenic\|likely pathogenic	10	101019135	101019135	Human		name , alternate_id
156105844	CV2149395	single nucleotide variant	NM_001195263.2(PDZD7):c.2099T>A (p.Val700Asp)	not provided [RCV003021213]	uncertain significance	10	101010790	101010790	Human		name
156119701	CV2150826	single nucleotide variant	NM_001195263.2(PDZD7):c.2888C>G (p.Ala963Gly)	not provided [RCV003021748]	uncertain significance	10	101008681	101008681	Human		name
156019045	CV2151663	single nucleotide variant	NM_001195263.2(PDZD7):c.1684C>T (p.Gln562Ter)	not provided [RCV003018138]	pathogenic	10	101015701	101015701	Human		name
155990915	CV2160813	single nucleotide variant	NM_001195263.2(PDZD7):c.1697A>G (p.Gln566Arg)	not provided [RCV003034318]	uncertain significance	10	101015688	101015688	Human		name
156106395	CV2160967	single nucleotide variant	NM_001195263.2(PDZD7):c.1036C>A (p.Arg346Ser)	not provided [RCV003038773]	uncertain significance	10	101019110	101019110	Human		name
156003421	CV2170382	single nucleotide variant	NM_001195263.2(PDZD7):c.2591C>T (p.Thr864Ile)	not provided [RCV003017383]	uncertain significance	10	101010298	101010298	Human		name
156011238	CV2170663	single nucleotide variant	NM_001195263.2(PDZD7):c.2827A>G (p.Met943Val)	not provided [RCV003017753]	uncertain significance	10	101008742	101008742	Human		name
156218547	CV2173055	single nucleotide variant	NM_001195263.2(PDZD7):c.1033G>T (p.Asp345Tyr)	not provided [RCV003025100]	uncertain significance	10	101019113	101019113	Human		name
156143826	CV2178655	single nucleotide variant	NM_001195263.2(PDZD7):c.2456G>C (p.Arg819Thr)	not provided [RCV003040134]	uncertain significance	10	101010433	101010433	Human		name
156118997	CV2183158	single nucleotide variant	NM_001195263.2(PDZD7):c.2431C>G (p.Arg811Gly)	not provided [RCV003039239]	uncertain significance	10	101010458	101010458	Human		name
156298392	CV2186317	single nucleotide variant	NM_001195263.2(PDZD7):c.2713C>G (p.Leu905Val)	not provided [RCV003061842]	uncertain significance	10	101009255	101009255	Human		name
156281123	CV2186854	single nucleotide variant	NM_001195263.2(PDZD7):c.1462G>A (p.Ala488Thr)	not provided [RCV003044782]	uncertain significance	10	101018159	101018159	Human		name
156374724	CV2190881	single nucleotide variant	NM_001195263.2(PDZD7):c.2650G>A (p.Val884Met)	not provided [RCV003050002]	uncertain significance	10	101009318	101009318	Human		name
156141494	CV2191919	single nucleotide variant	NM_001195263.2(PDZD7):c.1777C>A (p.Leu593Met)	not provided [RCV003056202]	uncertain significance	10	101012231	101012231	Human		name
156385314	CV2227882	single nucleotide variant	NM_001195263.2(PDZD7):c.2209C>A (p.Gln737Lys)	Inborn genetic diseases [RCV002723413]	uncertain significance	10	101010680	101010680	Human	1	name
155988283	CV2234194	single nucleotide variant	NM_001195263.2(PDZD7):c.2480A>T (p.Asp827Val)	Inborn genetic diseases [RCV002733081]	uncertain significance	10	101010409	101010409	Human	1	name
155982942	CV2239933	single nucleotide variant	NM_001195263.2(PDZD7):c.1372A>G (p.Lys458Glu)	Inborn genetic diseases [RCV002777881]	uncertain significance	10	101018249	101018249	Human	1	name
156153223	CV2245493	single nucleotide variant	NM_001195263.2(PDZD7):c.1776C>G (p.Asp592Glu)	Inborn genetic diseases [RCV002787022]	uncertain significance	10	101012232	101012232	Human	1	name
156194508	CV2251733	single nucleotide variant	NM_001195263.2(PDZD7):c.1619C>T (p.Pro540Leu)	Inborn genetic diseases [RCV002803061]	uncertain significance	10	101015766	101015766	Human	1	name
11638209	CV265991	single nucleotide variant	NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp)	Inborn genetic diseases [RCV003278731]\|Retinal dystrophy [RCV004816479]\|not provided [RCV000299346]	uncertain significance	10	101019067	101019067	Human	3	name
11637203	CV266217	single nucleotide variant	NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)	PDZD7-related disorder [RCV004547663]\|not provided [RCV000724999]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	101010639	101010639	Human		name , alternate_id
401734911	CV2690710	single nucleotide variant	NM_001195263.2(PDZD7):c.1510G>A (p.Asp504Asn)	Inborn genetic diseases [RCV003249610]	uncertain significance	10	101018111	101018111	Human	1	name
401828757	CV2743092	single nucleotide variant	NM_001195263.2(PDZD7):c.2473C>T (p.Pro825Ser)	not provided [RCV003325801]	uncertain significance	10	101010416	101010416	Human		name
402474596	CV2915887	single nucleotide variant	NM_001195263.2(PDZD7):c.2159T>G (p.Val720Gly)	not provided [RCV003571207]	uncertain significance	10	101010730	101010730	Human		name
402482612	CV2937474	single nucleotide variant	NM_001195263.2(PDZD7):c.1320G>C (p.Leu440Phe)	not provided [RCV003659781]	uncertain significance	10	101018826	101018826	Human		name
405142512	CV2958832	single nucleotide variant	NM_001195263.2(PDZD7):c.2696C>T (p.Ala899Val)	not provided [RCV003673359]	uncertain significance	10	101009272	101009272	Human		name
402492669	CV2981112	single nucleotide variant	NM_001195263.2(PDZD7):c.2246A>C (p.Asn749Thr)	not provided [RCV003713837]	uncertain significance	10	101010643	101010643	Human		name
405023471	CV3002882	single nucleotide variant	NM_001195263.2(PDZD7):c.1011C>A (p.Tyr337Ter)	not provided [RCV003695028]	pathogenic	10	101019135	101019135	Human		name
405069102	CV3031050	single nucleotide variant	NM_001195263.2(PDZD7):c.1084G>C (p.Gly362Arg)	Inborn genetic diseases [RCV004953394]\|not provided [RCV003698210]	uncertain significance	10	101019062	101019062	Human	1	name
405110673	CV3136910	single nucleotide variant	NM_001195263.2(PDZD7):c.2584A>G (p.Thr862Ala)	not provided [RCV003836064]	uncertain significance	10	101010305	101010305	Human		name
405071111	CV3140223	single nucleotide variant	NM_001195263.2(PDZD7):c.1427G>A (p.Arg476Gln)	not provided [RCV003833378]	uncertain significance	10	101018194	101018194	Human		name
405133775	CV3163923	single nucleotide variant	NM_001195263.2(PDZD7):c.2105C>T (p.Pro702Leu)	not provided [RCV003854911]	uncertain significance	10	101010784	101010784	Human		name
407528673	CV3470523	single nucleotide variant	NM_001195263.2(PDZD7):c.1361C>G (p.Ser454Cys)	Inborn genetic diseases [RCV004655640]	uncertain significance	10	101018260	101018260	Human	1	name
408380463	CV3501141	single nucleotide variant	NM_001195263.2(PDZD7):c.2473C>A (p.Pro825Thr)	not provided [RCV004727229]	uncertain significance	10	101010416	101010416	Human		name
408391157	CV3521231	single nucleotide variant	NM_001195263.2(PDZD7):c.2215C>T (p.Pro739Ser)	not provided [RCV004763053]	uncertain significance	10	101010674	101010674	Human		name
596927870	CV3532745	single nucleotide variant	NM_001195263.2(PDZD7):c.2264C>T (p.Pro755Leu)	not provided [RCV004778843]	uncertain significance	10	101010625	101010625	Human		name
596928422	CV3532914	single nucleotide variant	NM_001195263.2(PDZD7):c.1174C>T (p.Leu392Phe)	not provided [RCV004779013]	uncertain significance	10	101018972	101018972	Human		name
596929072	CV3540771	single nucleotide variant	NM_001195263.2(PDZD7):c.2201C>T (p.Pro734Leu)	not provided [RCV004795099]	uncertain significance	10	101010688	101010688	Human		name
597649339	CV3551816	single nucleotide variant	NM_001195263.2(PDZD7):c.2474C>T (p.Pro825Leu)	not provided [RCV004820529]	uncertain significance	10	101010415	101010415	Human		name
597631910	CV3552741	single nucleotide variant	NM_001195263.2(PDZD7):c.2572G>A (p.Gly858Ser)	not provided [RCV004823569]	uncertain significance	10	101010317	101010317	Human		name
597713455	CV3579295	single nucleotide variant	NM_001195263.2(PDZD7):c.1075C>T (p.Arg359Cys)	Inborn genetic diseases [RCV004959443]	uncertain significance	10	101019071	101019071	Human	1	name
597713461	CV3579296	single nucleotide variant	NM_001195263.2(PDZD7):c.1504C>T (p.Arg502Cys)	Inborn genetic diseases [RCV004959444]	uncertain significance	10	101018117	101018117	Human	1	name
597850783	CV3761853	single nucleotide variant	NM_001195263.2(PDZD7):c.1805A>G (p.Asp602Gly)	not provided [RCV005087950]	uncertain significance	10	101012203	101012203	Human		name
597938066	CV3774808	single nucleotide variant	NM_001195263.2(PDZD7):c.1951A>T (p.Arg651Ter)	not provided [RCV005117841]	pathogenic	10	101011744	101011744	Human		name
597844639	CV3827498	single nucleotide variant	NM_001195263.2(PDZD7):c.1324G>T (p.Glu442Ter)	not provided [RCV005172769]	pathogenic	10	101018822	101018822	Human		name
598125199	CV3883861	single nucleotide variant	NM_001195263.2(PDZD7):c.1286C>T (p.Pro429Leu)	not provided [RCV005236216]	uncertain significance	10	101018860	101018860	Human		name
616937923	CV4014781	single nucleotide variant	NM_001195263.2(PDZD7):c.2014G>A (p.Gly672Arg)	not provided [RCV005411797]	uncertain significance	10	101010875	101010875	Human		name
616936329	CV4016427	single nucleotide variant	NM_001195263.2(PDZD7):c.1829T>A (p.Leu610Gln)	not provided [RCV005415293]	uncertain significance	10	101012179	101012179	Human		name
12901336	CV407804	single nucleotide variant	NM_001195263.2(PDZD7):c.2348G>A (p.Arg783His)	not provided [RCV000484429]	uncertain significance	10	101010541	101010541	Human		name
12912855	CV421770	single nucleotide variant	NM_001195263.2(PDZD7):c.2481T>G (p.Asp827Glu)	not provided [RCV000493093]	uncertain significance	10	101010408	101010408	Human		name
13486590	CV444549	single nucleotide variant	NM_001195263.2(PDZD7):c.1982G>A (p.Arg661His)	not provided [RCV000522962]	uncertain significance	10	101011713	101011713	Human		name
8606940	CV53287	single nucleotide variant	NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)	PDZD7-related disorder [RCV004549449]\|not provided [RCV000969791]\|not specified [RCV000037095]	benign\|likely benign	10	101015772	101015772	Human	1	name , alternate_id
8606940	CV53287	single nucleotide variant	NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)	PDZD7-related disorder [RCV004549449]\|not provided [RCV000969791]\|not specified [RCV000037095]	benign\|likely benign	10	101015772	101015773	Human	1	name , alternate_id
8606943	CV53290	single nucleotide variant	NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg)	not provided [RCV000712519]\|not specified [RCV000037098]	benign	10	101010757	101010757	Human		name
8606944	CV53291	single nucleotide variant	NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu)	not provided [RCV000954274]\|not specified [RCV000037099]	benign\|likely benign	10	101010745	101010745	Human		name
8606948	CV53295	single nucleotide variant	NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu)	not provided [RCV000712520]\|not specified [RCV000037103]	benign	10	101010521	101010521	Human		name
8606949	CV53296	single nucleotide variant	NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)	PDZD7-related disorder [RCV004549452]\|not provided [RCV001463957]\|not specified [RCV000037104]	likely benign\|uncertain significance	10	101010478	101010478	Human		name , alternate_id
8606950	CV53297	single nucleotide variant	NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr)	Hearing loss, autosomal recessive 57 [RCV001787830]\|Usher syndrome type 2C [RCV001787829]\|not provided [RCV000842692]\|not specified [RCV000037105]	benign	10	101010325	101010325	Human	3	name
13609125	CV535665	single nucleotide variant	NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter)	Hearing loss, autosomal recessive 57 [RCV000656351]	pathogenic\|likely pathogenic	10	101018121	101018121	Human	1	name
13609078	CV535666	single nucleotide variant	NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter)	Hearing loss, autosomal recessive 57 [RCV000656352]	pathogenic	10	101015809	101015809	Human	1	name
13609126	CV535668	single nucleotide variant	NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)	Hearing loss, autosomal recessive 57 [RCV000656354]\|not provided [RCV003424263]	pathogenic	10	101015737	101015737	Human	1	name
8609066	CV55372	single nucleotide variant	NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn)	not provided [RCV000970867]\|not specified [RCV000039451]	benign	10	101018174	101018174	Human		name
14703158	CV654566	single nucleotide variant	NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln)	not provided [RCV001509787]\|not specified [RCV000825083]	benign	10	101010658	101010658	Human		name
14703849	CV654568	single nucleotide variant	NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser)	not provided [RCV001204545]\|not specified [RCV000825431]	uncertain significance	10	101010878	101010878	Human		name
14703852	CV654570	single nucleotide variant	NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr)	not provided [RCV001558284]\|not specified [RCV000825432]	uncertain significance	10	101012167	101012167	Human		name
14705118	CV654572	single nucleotide variant	NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg)	Hearing loss, autosomal recessive 57 [RCV001328701]\|not provided [RCV002536076]\|not specified [RCV000826018]	uncertain significance	10	101016425	101016425	Human	1	name
14704590	CV654573	single nucleotide variant	NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)	not provided [RCV001036565]\|not specified [RCV000825811]	likely benign\|uncertain significance	10	101018210	101018210	Human		name
14705114	CV654574	single nucleotide variant	NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val)	Inborn genetic diseases [RCV004029195]\|not provided [RCV001053473]\|not specified [RCV000826017]	uncertain significance	10	101018975	101018975	Human	1	name
15040315	CV682755	single nucleotide variant	NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter)	Ear malformation [RCV001836910]	likely pathogenic\|uncertain significance	10	101019058	101019058	Human	1	name
21067104	CV793359	single nucleotide variant	NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu)	not provided [RCV000992516]	uncertain significance	10	101011755	101011755	Human		name
26902428	CV836513	single nucleotide variant	NM_001195263.2(PDZD7):c.2932C>A (p.Gln978Lys)	not provided [RCV001069342]	uncertain significance	10	101008637	101008637	Human		name
26895198	CV836514	single nucleotide variant	NM_001195263.2(PDZD7):c.2786A>G (p.Asp929Gly)	not provided [RCV001063907]	uncertain significance	10	101008783	101008783	Human		name
26888993	CV836515	single nucleotide variant	NM_001195263.2(PDZD7):c.2777G>A (p.Arg926His)	not provided [RCV001057893]	uncertain significance	10	101008792	101008792	Human		name
26897805	CV836516	single nucleotide variant	NM_001195263.2(PDZD7):c.2716C>T (p.Gln906Ter)	not provided [RCV001066121]	pathogenic\|uncertain significance	10	101009252	101009252	Human		name
26886983	CV836517	single nucleotide variant	NM_001195263.2(PDZD7):c.2686G>A (p.Gly896Arg)	not provided [RCV001055642]	uncertain significance	10	101009282	101009282	Human		name
26915264	CV836518	single nucleotide variant	NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu)	Usher syndrome type 2C [RCV002489556]\|not provided [RCV001038714]	uncertain significance	10	101009288	101009288	Human	1	name
26898004	CV836522	single nucleotide variant	NM_001195263.2(PDZD7):c.2341C>T (p.Arg781Cys)	not provided [RCV001066259]	uncertain significance	10	101010548	101010548	Human		name
26896825	CV836523	single nucleotide variant	NM_001195263.2(PDZD7):c.2336G>A (p.Arg779His)	not provided [RCV001064889]	uncertain significance	10	101010553	101010553	Human		name
26895477	CV836524	single nucleotide variant	NM_001195263.2(PDZD7):c.2335C>T (p.Arg779Cys)	not provided [RCV001064044]	uncertain significance	10	101010554	101010554	Human		name
26891518	CV836525	single nucleotide variant	NM_001195263.2(PDZD7):c.2219C>T (p.Pro740Leu)	not provided [RCV001060581]	uncertain significance	10	101010670	101010670	Human		name
26898850	CV836526	single nucleotide variant	NM_001195263.2(PDZD7):c.2179C>T (p.Pro727Ser)	not provided [RCV001066768]	uncertain significance	10	101010710	101010710	Human		name
26898346	CV836527	single nucleotide variant	NM_001195263.2(PDZD7):c.2122C>T (p.Arg708Cys)	not provided [RCV001066464]	uncertain significance	10	101010767	101010767	Human		name
26914876	CV836528	single nucleotide variant	NM_001195263.2(PDZD7):c.2012G>A (p.Arg671His)	not provided [RCV001038187]	uncertain significance	10	101010877	101010877	Human		name
26897489	CV836529	single nucleotide variant	NM_001195263.2(PDZD7):c.1859C>T (p.Thr620Ile)	not provided [RCV001065800]	uncertain significance	10	101011999	101011999	Human		name
26886670	CV836530	single nucleotide variant	NM_001195263.2(PDZD7):c.1758C>A (p.His586Gln)	not provided [RCV001055259]	likely benign\|uncertain significance	10	101012250	101012250	Human		name
26921172	CV836531	single nucleotide variant	NM_001195263.2(PDZD7):c.1696C>T (p.Gln566Ter)	not provided [RCV001049369]	pathogenic	10	101015689	101015689	Human		name
26918854	CV836532	single nucleotide variant	NM_001195263.2(PDZD7):c.1588C>T (p.Arg530Trp)	not provided [RCV001044385]	uncertain significance	10	101015797	101015797	Human		name
26914903	CV836533	single nucleotide variant	NM_001195263.2(PDZD7):c.1484G>A (p.Ser495Asn)	not provided [RCV001038204]	uncertain significance	10	101018137	101018137	Human		name
26914880	CV836534	single nucleotide variant	NM_001195263.2(PDZD7):c.1454G>C (p.Arg485Pro)	not provided [RCV001038193]	uncertain significance	10	101018167	101018167	Human		name
26893890	CV836535	single nucleotide variant	NM_001195263.2(PDZD7):c.1432G>A (p.Gly478Arg)	not provided [RCV001063042]	uncertain significance	10	101018189	101018189	Human		name
26916595	CV836536	single nucleotide variant	NM_001195263.2(PDZD7):c.1028C>T (p.Pro343Leu)	not provided [RCV001040657]	uncertain significance	10	101019118	101019118	Human		name
38458586	CV918315	single nucleotide variant	NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr)	Retinal dystrophy [RCV004813834]\|not provided [RCV001863083]\|not specified [RCV001195253]	uncertain significance	10	101009329	101009329	Human	2	name
38458589	CV918316	single nucleotide variant	NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp)	Retinal dystrophy [RCV004813835]\|not provided [RCV001700718]\|not specified [RCV001195255]	uncertain significance	10	101015713	101015713	Human	2	name
38462504	CV918317	single nucleotide variant	NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu)	not provided [RCV001227947]\|not specified [RCV001195258]	uncertain significance	10	101016412	101016412	Human		name
38458592	CV918318	single nucleotide variant	NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val)	not provided [RCV001863084]\|not specified [RCV001195256]	uncertain significance	10	101018219	101018219	Human		name
38462500	CV918319	single nucleotide variant	NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys)	Inborn genetic diseases [RCV002559235]\|not provided [RCV001205848]\|not specified [RCV001195254]	uncertain significance	10	101019031	101019031	Human	1	name
38460588	CV919249	single nucleotide variant	NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile)	Hearing loss, autosomal recessive 57 [RCV001196747]	uncertain significance	10	101019133	101019133	Human	1	name
38466052	CV920814	single nucleotide variant	NM_001195263.2(PDZD7):c.1832A>G (p.Gln611Arg)	not provided [RCV001200074]	uncertain significance	10	101012176	101012176	Human		name
38489673	CV925720	single nucleotide variant	NM_001195263.2(PDZD7):c.2526T>A (p.Ser842Arg)	not provided [RCV001221806]	uncertain significance	10	101010363	101010363	Human		name
38492699	CV925721	single nucleotide variant	NM_001195263.2(PDZD7):c.1751A>G (p.Tyr584Cys)	not provided [RCV001223669]	uncertain significance	10	101012257	101012257	Human		name
38485921	CV934909	single nucleotide variant	NM_001195263.2(PDZD7):c.2851G>A (p.Gly951Arg)	not provided [RCV001208675]	uncertain significance	10	101008718	101008718	Human		name
38474477	CV934910	single nucleotide variant	NM_001195263.2(PDZD7):c.2746G>C (p.Gly916Arg)	not provided [RCV001203837]	uncertain significance	10	101008823	101008823	Human		name
38472746	CV934911	single nucleotide variant	NM_001195263.2(PDZD7):c.2396C>G (p.Pro799Arg)	not provided [RCV001203119]	uncertain significance	10	101010493	101010493	Human		name
38479926	CV934912	single nucleotide variant	NM_001195263.2(PDZD7):c.2372C>T (p.Ser791Phe)	not provided [RCV001206185]	uncertain significance	10	101010517	101010517	Human		name
38470660	CV934915	single nucleotide variant	NM_001195263.2(PDZD7):c.2258C>G (p.Thr753Arg)	not provided [RCV001213371]	uncertain significance	10	101010631	101010631	Human		name
38465884	CV934916	single nucleotide variant	NM_001195263.2(PDZD7):c.1673G>A (p.Arg558Gln)	not provided [RCV001212711]	uncertain significance	10	101015712	101015712	Human		name
38465113	CV934918	single nucleotide variant	NM_001195263.2(PDZD7):c.1387C>T (p.Arg463Cys)	not provided [RCV001212596]	uncertain significance	10	101018234	101018234	Human		name
38474131	CV946768	single nucleotide variant	NM_001195263.2(PDZD7):c.2408C>T (p.Pro803Leu)	not provided [RCV001232049]	uncertain significance	10	101010481	101010481	Human		name
38476780	CV946769	single nucleotide variant	NM_001195263.2(PDZD7):c.2330G>A (p.Arg777His)	not provided [RCV001233229]	uncertain significance	10	101010559	101010559	Human		name
38468976	CV946770	single nucleotide variant	NM_001195263.2(PDZD7):c.2180C>G (p.Pro727Arg)	not provided [RCV001230726]	uncertain significance	10	101010709	101010709	Human		name
38483075	CV946771	single nucleotide variant	NM_001195263.2(PDZD7):c.2111C>T (p.Ala704Val)	not provided [RCV001235777]	uncertain significance	10	101010778	101010778	Human		name
38489090	CV946772	single nucleotide variant	NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser)	Inborn genetic diseases [RCV002563912]\|not provided [RCV001238271]	uncertain significance	10	101011699	101011699	Human	1	name
38475153	CV946773	single nucleotide variant	NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp)	Hearing impairment [RCV001375141]\|not provided [RCV001232501]	uncertain significance	10	101011735	101011735	Human	2	name
38477096	CV946774	single nucleotide variant	NM_001195263.2(PDZD7):c.1570C>T (p.Arg524Cys)	not provided [RCV001233345]	uncertain significance	10	101016380	101016380	Human		name
38457422	CV946775	single nucleotide variant	NM_001195263.2(PDZD7):c.1529G>A (p.Gly510Asp)	not provided [RCV001228670]	uncertain significance	10	101016421	101016421	Human		name
38472241	CV946776	single nucleotide variant	NM_001195263.2(PDZD7):c.1153A>G (p.Ser385Gly)	not provided [RCV001231451]	uncertain significance	10	101018993	101018993	Human		name
38484025	CV946777	single nucleotide variant	NM_001195263.2(PDZD7):c.1065G>T (p.Glu355Asp)	not provided [RCV001236172]	uncertain significance	10	101019081	101019081	Human		name
38468285	CV955956	single nucleotide variant	NM_001195263.2(PDZD7):c.2600A>G (p.Lys867Arg)	not provided [RCV001248006]	uncertain significance	10	101010289	101010289	Human		name
38494588	CV955958	single nucleotide variant	NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp)	not provided [RCV001241403]	conflicting interpretations of pathogenicity\|uncertain significance	10	101010590	101010590	Human		name
38496021	CV955959	single nucleotide variant	NM_001195263.2(PDZD7):c.1445G>A (p.Arg482Gln)	not provided [RCV001242315]	uncertain significance	10	101018176	101018176	Human		name
38460511	CV955960	single nucleotide variant	NM_001195263.2(PDZD7):c.1093C>T (p.Arg365Trp)	not provided [RCV001246761]	uncertain significance	10	101019053	101019053	Human		name
126753716	CV993643	single nucleotide variant	NM_001195263.2(PDZD7):c.2819G>A (p.Arg940Gln)	not provided [RCV001297960]	uncertain significance	10	101008750	101008750	Human		name
126757047	CV993644	single nucleotide variant	NM_001195263.2(PDZD7):c.2789C>A (p.Thr930Asn)	not provided [RCV001298768]	uncertain significance	10	101008780	101008780	Human		name
126762620	CV993645	single nucleotide variant	NM_001195263.2(PDZD7):c.2747G>C (p.Gly916Ala)	not provided [RCV001309942]	uncertain significance	10	101008822	101008822	Human		name
126738604	CV993646	single nucleotide variant	NM_001195263.2(PDZD7):c.2746G>A (p.Gly916Arg)	not provided [RCV001295504]	uncertain significance	10	101008823	101008823	Human		name
126756960	CV993649	single nucleotide variant	NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser)	Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV001535738]\|not provided [RCV001308273]	uncertain significance\|not provided	10	101010374	101010374	Human	1	name , alternate_id
126728914	CV993651	single nucleotide variant	NM_001195263.2(PDZD7):c.2218C>A (p.Pro740Thr)	not provided [RCV001303482]	uncertain significance	10	101010671	101010671	Human		name
126737033	CV993652	single nucleotide variant	NM_001195263.2(PDZD7):c.1964A>G (p.Gln655Arg)	not provided [RCV001304825]	uncertain significance	10	101011731	101011731	Human		name
126740550	CV993653	single nucleotide variant	NM_001195263.2(PDZD7):c.1949T>C (p.Leu650Ser)	not provided [RCV001305293]	uncertain significance	10	101011746	101011746	Human		name
126735672	CV993654	single nucleotide variant	NM_001195263.2(PDZD7):c.1526G>A (p.Gly509Glu)	not provided [RCV001304632]	uncertain significance	10	101016424	101016424	Human		name
126764939	CV993655	single nucleotide variant	NM_001195263.2(PDZD7):c.1408C>T (p.Leu470Phe)	not provided [RCV001301292]	uncertain significance	10	101018213	101018213	Human		name
9689833	CV174860	deletion	NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)	PDZD7-related disorder [RCV004737242]\|Retinal dystrophy [RCV004815245]\|not provided [RCV000723969]\|not specified [RCV000155451]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	101018271	101018273	Human	2	alternate_id
401931391	CV2798299	deletion	NM_001195263.2(PDZD7):c.175_182del (p.Arg59fs)	PDZD7-related disorder [RCV004550632]	likely pathogenic	10	101030038	101030045	Human		trait , alternate_id
408369939	CV3518044	indel	NM_001195263.2(PDZD7):c.2319_2331delinsC (p.773RS[4])	PDZD7-related disorder [RCV004737796]	likely benign	10	101010558	101010570	Human		trait , alternate_id
8606946	CV53293	deletion	NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3])	PDZD7-related disorder [RCV004549451]\|not provided [RCV000971055]\|not specified [RCV000037101]	benign\|likely benign	10	101010553	101010570	Human		alternate_id
8606952	CV53299	microsatellite	NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del)	Hearing loss, autosomal recessive 57 [RCV001786330]\|PDZD7-related disorder [RCV004737178]\|not provided [RCV002513457]\|not specified [RCV000037107]	pathogenic\|likely pathogenic\|uncertain significance	10	101009291	101009293	Human		alternate_id
8568237	CV39233	deletion	NM_032119.4(ADGRV1):c.17137del (p.Ala5713fs)	Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV000023211]	pathogenic	5	90848754	90848754	Human	1	alternate_id
8568716	CV39941	deletion	NM_001195263.2(PDZD7):c.2194_2203del (p.Cys732fs)	Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV000023975]	pathogenic	10	101010686	101010695	Human	1	alternate_id
150405244	CV1191020	insertion	NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG	not provided [RCV001564195]	likely benign	10	101011060	101011061	Human		name
150463778	CV1252571	insertion	NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG	not provided [RCV001669894]	benign	10	101010920	101010921	Human		name
10047992	CV191886	single nucleotide variant	NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His)	not provided [RCV000842000]\|not specified [RCV000175157]	benign	10	101008477	101008477	Human		name

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