Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter)	SNV Germline	Chr11:68047733	Pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided	CA117542	rs_137853149	1 SubmittersRCV000005793
NM_006019.4(TCIRG1):c.117+4A>T	SNV Germline	Chr11:68041392	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided Inborn genetic diseases Autosomal recessive osteopetrosis TCIRG1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6146640	rs_751881962	11 SubmittersRCV000005795 RCV000822060 RCV002512814 RCV004017229 RCV004748501
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	SNV Germline	Chr11:68047480	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided Osteopetrosis	Criteria Provided Multiple Submitters No Conflicts	CA117545	rs_137853150	10 SubmittersRCV000005796 RCV001390427 RCV002307355
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)	SNV Germline	Chr11:68047672	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117547	rs_137853151	5 SubmittersRCV000005797 RCV003555929
NM_006019.4(TCIRG1):c.1674-1G>A	SNV Germline	Chr11:68049080	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided Osteopetrosis TCIRG1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199169	rs_139617644	18 SubmittersRCV000169678 RCV000801831 RCV001251404 RCV003407630
NM_006019.4(TCIRG1):c.197-5C>T	SNV Germline	Chr11:68042638	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA245300	rs_183885218	4 SubmittersRCV000178253 RCV001274549 RCV003977460
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)	SNV Germline	Chr11:68047516	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 Increased bone mineral density Neutropenia, severe congenital, 1, autosomal dominant TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147031	rs_140963213	13 SubmittersRCV000224875 RCV000509143 RCV002277583 RCV004786614 RCV004748670
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)	SNV Germline	Chr11:68043010	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6146731	rs_34227834	8 SubmittersRCV000224444 RCV000290752
NM_006019.4(TCIRG1):c.2397C>T (p.His799=)	SNV Germline	Chr11:68050647	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6147518	rs_141356870	3 SubmittersRCV000262140 RCV001271628
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)	SNV Germline	Chr11:68041361	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6146633	rs_141859450	8 SubmittersRCV000393916 RCV000765009
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile)	SNV Germline	Chr11:68048939	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6147202	rs_142539969	3 SubmittersRCV000327113 RCV001109451
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)	SNV Germline	Chr11:68050771	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6147547	rs_150788130	6 SubmittersRCV000381461 RCV001113576
NM_006019.4(TCIRG1):c.624C>G (p.Pro208=)	SNV Germline	Chr11:68043491	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146752	rs_779281265	2 SubmittersRCV000296471 RCV000932464
NM_006019.4(TCIRG1):c.990C>T (p.Pro330=)	SNV Germline	Chr11:68044314	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146862	rs_772355396	2 SubmittersRCV000301908 RCV000980446
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=)	SNV Germline	Chr11:68044344	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146870	rs_144158792	4 SubmittersRCV000342819 RCV001859822
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)	SNV Germline	Chr11:68047494	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147025	rs_145080707	5 SubmittersRCV000368475 RCV000596134 RCV003950033
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)	SNV Germline	Chr11:68047545	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147038	rs_138527421	5 SubmittersRCV000273917 RCV000592227 RCV003950034
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=)	SNV Germline	Chr11:68047748	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147098	rs_570336313	3 SubmittersRCV000260875 RCV000944569
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=)	SNV Germline	Chr11:68049976	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147369	rs_370181947	5 SubmittersRCV000391060 RCV000928338 RCV003950035
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)	SNV Germline	Chr11:68047462	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147021	rs_151180675	5 SubmittersRCV000309084 RCV000598452 RCV003957582
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)	SNV Germline	Chr11:68047564	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6147051	rs_777785526	7 SubmittersRCV000675173 RCV001241325
NM_006019.4(TCIRG1):c.2232C>T (p.His744=)	SNV Germline	Chr11:68050250	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147441	rs_774906865	3 SubmittersRCV000354987 RCV000945188
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val)	SNV Germline	Chr11:68050583	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided Inborn genetic diseases TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147502	rs_144775787	5 SubmittersRCV000320118 RCV000941287 RCV002522202 RCV003967879
NM_006019.4(TCIRG1):c.2414+7G>A	SNV Germline	Chr11:68050671	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147523	rs_200879286	3 SubmittersRCV000374795 RCV000900453
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)	SNV Germline	Chr11:68043004	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6146729	rs_199632510	5 SubmittersRCV000385020 RCV000906858 RCV003967878
NM_006019.4(TCIRG1):c.1165+9C>T	SNV Germline	Chr11:68045111	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA10639254	rs_886048597	3 SubmittersRCV000272677 RCV001505103 RCV004748718
NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=)	SNV Germline	Chr11:68050139	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147411	rs_370572421	2 SubmittersRCV000367715 RCV001452546
NM_006019.4(TCIRG1):c.123C>T (p.Asn41=)	SNV Germline	Chr11:68041758	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146663	rs_147102889	2 SubmittersRCV000300326 RCV000912572
NM_006019.4(TCIRG1):c.1673+13G>A	SNV Germline	Chr11:68049010	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147219	rs_372404641	2 SubmittersRCV000287029 RCV002056235
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)	SNV Germline	Chr11:68049207	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147268	rs_145144233	7 SubmittersRCV000625145 RCV000658610
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)	SNV Germline	Chr11:68049679	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147320	rs_763119311	4 SubmittersRCV000347884 RCV000930117 RCV003920261
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)	SNV Unknown	Chr11:68048883	Likely pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided	CA16041533	rs_1057517365	1 SubmittersRCV000410207
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)	SNV Germline	Chr11:68050181	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder not specified	Criteria Provided Conflicting Classifications	CA6147425	rs_145718040	7 SubmittersRCV000593143 RCV001112217 RCV003925777 RCV005407777
NM_006019.4(TCIRG1):c.2119-10C>T	SNV Germline	Chr11:68050127	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147406	rs_377606178	5 SubmittersRCV000594823 RCV001112216 RCV003935612
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)	SNV Germline	Chr11:68043647	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146778	rs_116001129	3 SubmittersRCV000668036 RCV002530734
NM_006019.4(TCIRG1):c.713+1G>T	SNV Germline	Chr11:68043654	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Chorea-acanthocytosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6146780	rs_774308815	3 SubmittersRCV000670922 RCV003444632 RCV003558513
NM_006019.4(TCIRG1):c.807+1G>T	SNV Germline	Chr11:68043908	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381579615	rs_1458295257	3 SubmittersRCV000669060 RCV001855513
NM_006019.4(TCIRG1):c.1306-1G>A	SNV Germline	Chr11:68047646	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Single Submitter	CA381583329	rs_1554997884	2 SubmittersRCV000669567 RCV001224386
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	SNV Germline	Chr11:68047713	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6147088	rs_200851583	6 SubmittersRCV000669207 RCV001237832
NM_006019.4(TCIRG1):c.1555-2A>C	SNV Germline	Chr11:68048877	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6147190	rs_758977199	6 SubmittersRCV000666560 RCV001040779
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	SNV Germline	Chr11:68049783	Pathogenic	Autosomal recessive osteopetrosis 1 Osteopetrosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6147346	rs_371263807	10 SubmittersRCV000666300 RCV001199854 RCV000819121
NM_006019.4(TCIRG1):c.2236+1G>A	SNV Germline	Chr11:68050255	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381590877	rs_1475338876	8 SubmittersRCV000674460 RCV001062506
NM_006019.4(TCIRG1):c.-5+1G>T	SNV Unknown	Chr11:68039120	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA658821814	rs_917505107	2 SubmittersRCV000669376
NM_006019.4(TCIRG1):c.503+1G>A	SNV Germline	Chr11:68043032	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Single Submitter	CA381577019	rs_1554995381	2 SubmittersRCV000674837 RCV001861849
NM_006019.4(TCIRG1):c.630+1G>T	SNV Germline	Chr11:68043498	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Single Submitter	CA381578327	rs_1554995582	2 SubmittersRCV000670786 RCV003727797
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)	SNV Germline	Chr11:68047480	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381582212	rs_137853150	3 SubmittersRCV000667452 RCV001377672
NM_006019.4(TCIRG1):c.1305+2T>C	SNV Germline	Chr11:68047574	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381582485	rs_1554997818	4 SubmittersRCV000673704 RCV001379499
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)	SNV Germline	Chr11:68050254	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6147442	rs_748659068	6 SubmittersRCV000668642 RCV001387137
NM_006019.4(TCIRG1):c.117+1G>A	SNV Germline	Chr11:68041389	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224199757	rs_377303800	7 SubmittersRCV000667120 RCV000799615
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)	SNV Germline	Chr11:68042651	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Single Submitter	CA381575145	rs_1554995009	2 SubmittersRCV000667217 RCV001855477
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	SNV Germline	Chr11:68042792	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA381576216	rs_1338631330	7 SubmittersRCV000798499 RCV000668174 RCV003411576
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)	SNV Germline	Chr11:68043496	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146753	rs_372826788	4 SubmittersRCV000664822 RCV002530635
NM_006019.4(TCIRG1):c.713+1G>C	SNV Unknown	Chr11:68043654	Likely pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided	CA381578823	rs_774308815	1 SubmittersRCV000674076
NM_006019.4(TCIRG1):c.1887+1G>C	SNV Germline	Chr11:68049295	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381587583	rs_1554999205	3 SubmittersRCV000674525 RCV000819342
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)	SNV Germline	Chr11:68050664	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381592295	rs_1555000308	2 SubmittersRCV000674141
NM_006019.4(TCIRG1):c.2415-2A>G	SNV Germline	Chr11:68050739	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA381592419	rs_1555000376	4 SubmittersRCV000670013 RCV001797122
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)	SNV Unknown	Chr11:68042994	Likely pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided	CA381576854	rs_1554995330	1 SubmittersRCV000670435
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)	SNV Unknown	Chr11:68043015	Likely pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided	CA381576947	rs_1385741705	1 SubmittersRCV000674126
NM_006019.4(TCIRG1):c.630+2T>C	SNV Germline	Chr11:68043499	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381578331	rs_1392364437	4 SubmittersRCV000666484 RCV001220161
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	SNV Germline	Chr11:68044303	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6146858	rs_749361897	4 SubmittersRCV000665688 RCV001061622
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)	SNV Germline	Chr11:68044961	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Osteopetrosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381581036	rs_1159666762	5 SubmittersRCV000671340 RCV001199944 RCV002531278
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)	SNV Germline	Chr11:68047543	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381582425	rs_1489993984	6 SubmittersRCV000673534 RCV001390428
NM_006019.4(TCIRG1):c.1554+1G>T	SNV Germline	Chr11:68047973	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381584693	rs_1439348400	5 SubmittersRCV000670092 RCV003679013
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)	SNV Germline	Chr11:68044150	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6146835	rs_543099977	5 SubmittersRCV000728504 RCV001109352 RCV004748923
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)	SNV Germline	Chr11:68048947	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6147204	rs_534950651	3 SubmittersRCV000730049 RCV001279342
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)	SNV Germline	Chr11:68050014	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1 Osteopetrosis	Criteria Provided Multiple Submitters No Conflicts	CA381589473	rs_1590817956	4 SubmittersRCV000815242 RCV002501118 RCV004782563
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys)	SNV Germline	Chr11:68042753	Conflicting classifications of pathogenicity	TCIRG1-related disorder Condition: not provided Autosomal recessive osteopetrosis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6146694	rs_771198568	5 SubmittersRCV003930519 RCV000880633 RCV001276531 RCV002539295
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)	SNV Germline	Chr11:68047954	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6147153	rs_138049763	4 SubmittersRCV000880671 RCV001115090
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=)	SNV Germline	Chr11:68047536	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147036	rs_147119709	4 SubmittersRCV000904965 RCV001276542 RCV004749528
NM_006019.4(TCIRG1):c.118-6C>T	SNV Germline	Chr11:68041747	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6146660	rs_375317575	4 SubmittersRCV000915924 RCV001111573 RCV003950826
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)	SNV Germline	Chr11:68045033	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6146944	rs_148619884	3 SubmittersRCV000940052 RCV003141899
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)	SNV Germline	Chr11:68048954	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147210	rs_371505143	3 SubmittersRCV000985061 RCV001858610
NM_006019.4(TCIRG1):c.2415-1G>C	SNV Germline	Chr11:68050740	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381592422	rs_1590819770	1 SubmittersRCV000991441
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)	SNV Germline	Chr11:68045051	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided Osteopetrosis	Criteria Provided Multiple Submitters No Conflicts	CA6146949	rs_776436008	4 SubmittersRCV001030049 RCV002552435 RCV003155339
NM_006019.4(TCIRG1):c.1554+2T>A	SNV Germline	Chr11:68047974	Pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1 Osteopetrosis	Criteria Provided Multiple Submitters No Conflicts	CA6147160	rs_761918801	4 SubmittersRCV001057306 RCV001784608 RCV003155348
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=)	SNV Germline	Chr11:68041292	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6146613	rs_373244328	4 SubmittersRCV001111572 RCV001407490 RCV003918693
NM_006019.4(TCIRG1):c.840G>A (p.Gln280=)	SNV Germline	Chr11:68044164	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA475447334	rs_1436170727	2 SubmittersRCV001109353 RCV001488433
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His)	SNV Germline	Chr11:68049760	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6147339	rs_763065648	4 SubmittersRCV001111768 RCV002556178 RCV004671223
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=)	SNV Germline	Chr11:68050063	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6147384	rs_769840926	3 SubmittersRCV001112215 RCV001491086
NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=)	SNV Germline	Chr11:68050774	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA224213914	rs_139049989	3 SubmittersRCV001113577 RCV001482392 RCV003945820
NM_006019.4(TCIRG1):c.504-12C>T	SNV Germline	Chr11:68043359	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA600238561	rs_1263185890	2 SubmittersRCV001114993 RCV003769143
NM_006019.4(TCIRG1):c.1165+11C>T	SNV Germline	Chr11:68045113	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146968	rs_745876497	2 SubmittersRCV001111673 RCV002069802
NM_006019.4(TCIRG1):c.1165+12G>A	SNV Germline	Chr11:68045114	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146969	rs_199554924	2 SubmittersRCV001111674 RCV002069803
NM_006019.4(TCIRG1):c.1887+10G>A	SNV Germline	Chr11:68049304	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA600238712	rs_1241903068	2 SubmittersRCV001111765 RCV002069805
NM_006019.4(TCIRG1):c.196+5G>A	SNV Germline	Chr11:68041836	Pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA599931445	rs_1470999303	3 SubmittersRCV001208120 RCV003469339
NM_006019.4(TCIRG1):c.1306-2A>T	SNV Germline	Chr11:68047645	Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381583320	rs_1855570841	2 SubmittersRCV001241777 RCV003469459
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)	SNV Germline	Chr11:68047967	Likely pathogenic	Osteopetrosis Autosomal recessive osteopetrosis 1 Abnormality of the skeletal system Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6147157	rs_369264588	9 SubmittersRCV001251405 RCV001375862 RCV001814292 RCV002570450
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)	SNV Germline	Chr11:68041330	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided Autosomal recessive osteopetrosis 1 Mitochondrial complex I deficiency, nuclear type 2	Criteria Provided Conflicting Classifications	CA6146622	rs_377034463	7 SubmittersRCV001278550 RCV002508303 RCV004731117
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln)	SNV Germline	Chr11:68044334	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6146867	rs_139263189	3 SubmittersRCV001279333 RCV001339257 RCV005286378
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met)	SNV Germline	Chr11:68047905	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6147142	rs_141474168	4 SubmittersRCV001279340 RCV002069456 RCV004035486
NM_006019.4(TCIRG1):c.1887+130C>T	SNV Germline	Chr11:68049424	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	No Assertion Criteria Provided	CA224210000	rs_928213157	2 SubmittersRCV001279730 RCV003928815
NM_006019.4(TCIRG1):c.1887+131G>A	SNV Germline	Chr11:68049425	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	No Assertion Criteria Provided	CA224210002	rs_78820476	2 SubmittersRCV001279731 RCV003945960
NM_006019.4(TCIRG1):c.418-21A>G	SNV Germline	Chr11:68042925	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA1139662063	rs_1855249165	3 SubmittersRCV001289557 RCV005235555
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr11:68049091	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381585906	rs_1855655612	5 SubmittersRCV001289553 RCV002538381
NM_006019.4(TCIRG1):c.196+1G>T	SNV Germline	Chr11:68041832	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381574984	rs_2134432498	4 SubmittersRCV001379497 RCV002246359
NM_006019.4(TCIRG1):c.631-2A>C	SNV Germline	Chr11:68043569	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381578374	rs_1214876593	2 SubmittersRCV001379498 RCV004570935
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)	SNV Germline	Chr11:68042822	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA224203027	rs_903939170	3 SubmittersRCV001383096 RCV003130516
NM_006019.4(TCIRG1):c.504-6C>A	SNV Germline	Chr11:68043365	Pathogenic	Osteopetrosis Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA224203753	rs_1028394725	5 SubmittersRCV001582343 RCV001866205 RCV002246445
NM_006019.4(TCIRG1):c.117+4A>C	SNV Germline	Chr11:68041392	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6146639	rs_751881962	4 SubmittersRCV001810546 RCV001885295
NM_006019.4(TCIRG1):c.1888-1G>T	SNV Germline	Chr11:68049662	Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381588663	rs_2134462513	2 SubmittersRCV002024136 RCV003464396
NM_006019.4(TCIRG1):c.1021-1G>T	SNV Germline	Chr11:68044957	Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381581022	rs_1590807544	3 SubmittersRCV002006181 RCV003464360
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter)	SNV Germline	Chr11:68043887	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA224204321	rs_1003722483	3 SubmittersRCV001918015 RCV003464214
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter)	SNV Germline	Chr11:68043390	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381577131	rs_2134437954	3 SubmittersRCV001939521 RCV003471155
NM_006019.4(TCIRG1):c.117+5G>A	SNV Germline	Chr11:68041393	Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA2573147490	rs_2134430922	3 SubmittersRCV002010221 RCV003471241
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)	SNV Germline	Chr11:68043497	Pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA475446380	rs_1293760338	2 SubmittersRCV001956449 RCV003471190
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)	SNV Germline	Chr11:68043628	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381578678	rs_1156299579	4 SubmittersRCV002246627 RCV001983014
NM_006019.4(TCIRG1):c.807+2T>G	SNV Germline	Chr11:68043909	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381579623	rs_2134440422	1 SubmittersRCV002247757
NM_006019.4(TCIRG1):c.2014-1G>A	SNV Germline	Chr11:68049961	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381589142	rs_1197237618	2 SubmittersRCV002247758
NM_006019.4(TCIRG1):c.1165+1G>C	SNV Germline	Chr11:68045103	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6146967	rs_780745598	2 SubmittersRCV002247759 RCV005095803
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter)	SNV Germline	Chr11:68044293	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381580766	rs_2134442342	1 SubmittersRCV002247765
NM_006019.4(TCIRG1):c.2236+1G>C	SNV Germline	Chr11:68050255	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381590880	rs_1475338876	1 SubmittersRCV002247771
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter)	SNV Germline	Chr11:68049292	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381587555	rs_895239701	2 SubmittersRCV002247772 RCV005095804
NM_006019.4(TCIRG1):c.1020+2T>A	SNV Germline	Chr11:68044346	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381580963	rs_2495628456	2 SubmittersRCV003037412 RCV005254691
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)	SNV Germline	Chr11:68047495	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications	CA6147026	rs_775902505	3 SubmittersRCV003058332 RCV003485809
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)	SNV Germline	Chr11:68047728	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA6147091	rs_774578979	2 SubmittersRCV002721147 RCV003464589
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)	SNV Germline	Chr11:68050164	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381590182	rs_2495667919	2 SubmittersRCV002862743 RCV003465850
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)	SNV Germline	Chr11:68050574	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1 Osteopetrosis	Criteria Provided Multiple Submitters No Conflicts	CA381591621	rs_2495671613	3 SubmittersRCV003328859 RCV003466063 RCV005406666
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)	SNV Germline	Chr11:68042974	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224203244	rs_979358405	3 SubmittersRCV003464666 RCV003779124
NM_006019.4(TCIRG1):c.418-1G>C	SNV Germline	Chr11:68042945	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381576650	rs_2495616858	2 SubmittersRCV003466431 RCV003565682
NM_006019.4(TCIRG1):c.1673+2T>C	SNV Unknown	Chr11:68048999	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA6147218	rs_747048627	1 SubmittersRCV003466432
NM_006019.4(TCIRG1):c.808-2A>C	SNV Unknown	Chr11:68044130	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381579687	rs_2495626690	1 SubmittersRCV003464670
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)	SNV Germline	Chr11:68047801	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381584336	rs_2495648021	2 SubmittersRCV003466433 RCV005100230
NM_006019.4(TCIRG1):c.1887+1G>A	SNV Germline	Chr11:68049295	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381587581	rs_1554999205	2 SubmittersRCV003466434 RCV003720929
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)	SNV Unknown	Chr11:68050627	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381592065	rs_765444519	1 SubmittersRCV003466435
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)	SNV Germline	Chr11:68043587	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381578463	rs_2495621829	2 SubmittersRCV003464672 RCV003779125
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)	SNV Unknown	Chr11:68043872	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA224204312	rs_866821968	1 SubmittersRCV003466436
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)	SNV Germline	Chr11:68044292	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381580757	rs_1327818531	2 SubmittersRCV003466438 RCV003779126
NM_006019.4(TCIRG1):c.503+5G>A	SNV Unknown	Chr11:68043036	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA1980461950	rs_1855256745	1 SubmittersRCV003464674
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)	SNV Unknown	Chr11:68042807	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381576302	rs_1855236679	1 SubmittersRCV003464675
NM_006019.4(TCIRG1):c.2414+1G>T	SNV Unknown	Chr11:68050665	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381592307	rs_1197127947	1 SubmittersRCV003466439
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)	SNV Unknown	Chr11:68049189	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381586791	rs_773769785	1 SubmittersRCV003466440
NM_006019.4(TCIRG1):c.807+1G>A	SNV Germline	Chr11:68043908	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381579614	rs_1458295257	2 SubmittersRCV003464677 RCV005100231
NM_006019.4(TCIRG1):c.1674-1G>C	SNV Germline	Chr11:68049080	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381585832	rs_139617644	2 SubmittersRCV003464679 RCV003779127
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)	SNV Unknown	Chr11:68044222	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381580365	rs_762259521	1 SubmittersRCV003464680
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)	SNV Unknown	Chr11:68044343	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381580949	rs_201172503	1 SubmittersRCV003466443
NM_006019.4(TCIRG1):c.1020+1G>T	SNV Unknown	Chr11:68044345	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381580958	rs_1855356909	1 SubmittersRCV003466444
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)	SNV Germline	Chr11:68043845	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381579135	rs_751988410	2 SubmittersRCV003464682 RCV003679226
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)	SNV Germline	Chr11:68047898	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381584468	rs_1855589148	2 SubmittersRCV003464683 RCV003699112
NM_006019.4(TCIRG1):c.1554+1G>A	SNV Unknown	Chr11:68047973	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA381584691	rs_1439348400	1 SubmittersRCV003464686
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)	SNV Unknown	Chr11:68047954	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter	CA224208718	rs_138049763	1 SubmittersRCV003466445
NM_006019.4(TCIRG1):c.2119-2A>C	SNV Germline	Chr11:68050135	Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts	CA381589951	rs_2495667681	2 SubmittersRCV003557627 RCV004574105
NM_006019.4(TCIRG1):c.927C>A (p.Cys309Ter)	SNV Germline	Chr11:68044251	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381580542	rs_2495627659	2 SubmittersRCV005051348 RCV003563543
NM_006019.4(TCIRG1):c.2011C>T (p.Gln671Ter)	SNV Unknown	Chr11:68049786	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		rs_2495664524	1 SubmittersRCV004573704
NM_006019.4(TCIRG1):c.-5+1G>C	SNV Unknown	Chr11:68039120	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		rs_917505107	1 SubmittersRCV004573707
NM_006019.4(TCIRG1):c.2377G>A (p.Gly793Arg)	SNV Germline	Chr11:68050627	Conflicting classifications of pathogenicity	not specified Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004690619 RCV005051464
NM_006019.4(TCIRG1):c.418-1G>T	SNV Germline	Chr11:68042945	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV005051109
NM_006019.4(TCIRG1):c.1787G>A (p.Trp596Ter)	SNV Germline	Chr11:68049194	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV005051116
NM_006019.4(TCIRG1):c.2415-1G>T	SNV Germline	Chr11:68050740	Likely pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided			1 SubmittersRCV005612033

NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter)

SNV
Germline

Chr11:68047733

Pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

CA117542

rs_137853149

1 SubmittersRCV000005793

NM_006019.4(TCIRG1):c.117+4A>T

SNV
Germline

Chr11:68041392

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided
Inborn genetic diseases
Autosomal recessive osteopetrosis
TCIRG1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6146640

rs_751881962

11 SubmittersRCV000005795 RCV000822060 RCV002512814 RCV004017229 RCV004748501

NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)

SNV
Germline

Chr11:68047480

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided
Osteopetrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA117545

rs_137853150

10 SubmittersRCV000005796 RCV001390427 RCV002307355

NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)

SNV
Germline

Chr11:68047672

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117547

rs_137853151

5 SubmittersRCV000005797 RCV003555929

NM_006019.4(TCIRG1):c.1674-1G>A

SNV
Germline

Chr11:68049080

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided
Osteopetrosis
TCIRG1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA199169

rs_139617644

18 SubmittersRCV000169678 RCV000801831 RCV001251404 RCV003407630

NM_006019.4(TCIRG1):c.197-5C>T

SNV
Germline

Chr11:68042638

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA245300

rs_183885218

4 SubmittersRCV000178253 RCV001274549 RCV003977460

NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)

SNV
Germline

Chr11:68047516

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
Increased bone mineral density
Neutropenia, severe congenital, 1, autosomal dominant
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147031

rs_140963213

13 SubmittersRCV000224875 RCV000509143 RCV002277583 RCV004786614 RCV004748670

NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)

SNV
Germline

Chr11:68043010

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6146731

rs_34227834

8 SubmittersRCV000224444 RCV000290752

NM_006019.4(TCIRG1):c.2397C>T (p.His799=)

SNV
Germline

Chr11:68050647

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6147518

rs_141356870

3 SubmittersRCV000262140 RCV001271628

NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)

SNV
Germline

Chr11:68041361

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6146633

rs_141859450

8 SubmittersRCV000393916 RCV000765009

NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile)

SNV
Germline

Chr11:68048939

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6147202

rs_142539969

3 SubmittersRCV000327113 RCV001109451

NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)

SNV
Germline

Chr11:68050771

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6147547

rs_150788130

6 SubmittersRCV000381461 RCV001113576

NM_006019.4(TCIRG1):c.624C>G (p.Pro208=)

SNV
Germline

Chr11:68043491

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146752

rs_779281265

2 SubmittersRCV000296471 RCV000932464

NM_006019.4(TCIRG1):c.990C>T (p.Pro330=)

SNV
Germline

Chr11:68044314

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146862

rs_772355396

2 SubmittersRCV000301908 RCV000980446

NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=)

SNV
Germline

Chr11:68044344

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146870

rs_144158792

4 SubmittersRCV000342819 RCV001859822

NM_006019.4(TCIRG1):c.1227C>T (p.His409=)

SNV
Germline

Chr11:68047494

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147025

rs_145080707

5 SubmittersRCV000368475 RCV000596134 RCV003950033

NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)

SNV
Germline

Chr11:68047545

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147038

rs_138527421

5 SubmittersRCV000273917 RCV000592227 RCV003950034

NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=)

SNV
Germline

Chr11:68047748

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147098

rs_570336313

3 SubmittersRCV000260875 RCV000944569

NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=)

SNV
Germline

Chr11:68049976

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147369

rs_370181947

5 SubmittersRCV000391060 RCV000928338 RCV003950035

NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)

SNV
Germline

Chr11:68047462

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147021

rs_151180675

5 SubmittersRCV000309084 RCV000598452 RCV003957582

NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)

SNV
Germline

Chr11:68047564

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6147051

rs_777785526

7 SubmittersRCV000675173 RCV001241325

NM_006019.4(TCIRG1):c.2232C>T (p.His744=)

SNV
Germline

Chr11:68050250

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147441

rs_774906865

3 SubmittersRCV000354987 RCV000945188

NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val)

SNV
Germline

Chr11:68050583

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
Inborn genetic diseases
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147502

rs_144775787

5 SubmittersRCV000320118 RCV000941287 RCV002522202 RCV003967879

NM_006019.4(TCIRG1):c.2414+7G>A

SNV
Germline

Chr11:68050671

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147523

rs_200879286

3 SubmittersRCV000374795 RCV000900453

NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)

SNV
Germline

Chr11:68043004

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6146729

rs_199632510

5 SubmittersRCV000385020 RCV000906858 RCV003967878

NM_006019.4(TCIRG1):c.1165+9C>T

SNV
Germline

Chr11:68045111

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA10639254

rs_886048597

3 SubmittersRCV000272677 RCV001505103 RCV004748718

NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=)

SNV
Germline

Chr11:68050139

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147411

rs_370572421

2 SubmittersRCV000367715 RCV001452546

NM_006019.4(TCIRG1):c.123C>T (p.Asn41=)

SNV
Germline

Chr11:68041758

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146663

rs_147102889

2 SubmittersRCV000300326 RCV000912572

NM_006019.4(TCIRG1):c.1673+13G>A

SNV
Germline

Chr11:68049010

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147219

rs_372404641

2 SubmittersRCV000287029 RCV002056235

NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)

SNV
Germline

Chr11:68049207

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147268

rs_145144233

7 SubmittersRCV000625145 RCV000658610

NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)

SNV
Germline

Chr11:68049679

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147320

rs_763119311

4 SubmittersRCV000347884 RCV000930117 RCV003920261

NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter)

SNV
Unknown

Chr11:68048883

Likely pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

CA16041533

rs_1057517365

1 SubmittersRCV000410207

NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)

SNV
Germline

Chr11:68050181

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6147425

rs_145718040

7 SubmittersRCV000593143 RCV001112217 RCV003925777 RCV005407777

NM_006019.4(TCIRG1):c.2119-10C>T

SNV
Germline

Chr11:68050127

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147406

rs_377606178

5 SubmittersRCV000594823 RCV001112216 RCV003935612

NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)

SNV
Germline

Chr11:68043647

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146778

rs_116001129

3 SubmittersRCV000668036 RCV002530734

NM_006019.4(TCIRG1):c.713+1G>T

SNV
Germline

Chr11:68043654

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Chorea-acanthocytosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6146780

rs_774308815

3 SubmittersRCV000670922 RCV003444632 RCV003558513

NM_006019.4(TCIRG1):c.807+1G>T

SNV
Germline

Chr11:68043908

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381579615

rs_1458295257

3 SubmittersRCV000669060 RCV001855513

NM_006019.4(TCIRG1):c.1306-1G>A

SNV
Germline

Chr11:68047646

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Single Submitter

CA381583329

rs_1554997884

2 SubmittersRCV000669567 RCV001224386

NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)

SNV
Germline

Chr11:68047713

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6147088

rs_200851583

6 SubmittersRCV000669207 RCV001237832

NM_006019.4(TCIRG1):c.1555-2A>C

SNV
Germline

Chr11:68048877

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6147190

rs_758977199

6 SubmittersRCV000666560 RCV001040779

NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)

SNV
Germline

Chr11:68049783

Pathogenic

Autosomal recessive osteopetrosis 1
Osteopetrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6147346

rs_371263807

10 SubmittersRCV000666300 RCV001199854 RCV000819121

NM_006019.4(TCIRG1):c.2236+1G>A

SNV
Germline

Chr11:68050255

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381590877

rs_1475338876

8 SubmittersRCV000674460 RCV001062506

NM_006019.4(TCIRG1):c.-5+1G>T

SNV
Unknown

Chr11:68039120

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA658821814

rs_917505107

2 SubmittersRCV000669376

NM_006019.4(TCIRG1):c.503+1G>A

SNV
Germline

Chr11:68043032

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Single Submitter

CA381577019

rs_1554995381

2 SubmittersRCV000674837 RCV001861849

NM_006019.4(TCIRG1):c.630+1G>T

SNV
Germline

Chr11:68043498

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Single Submitter

CA381578327

rs_1554995582

2 SubmittersRCV000670786 RCV003727797

NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)

SNV
Germline

Chr11:68047480

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381582212

rs_137853150

3 SubmittersRCV000667452 RCV001377672

NM_006019.4(TCIRG1):c.1305+2T>C

SNV
Germline

Chr11:68047574

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381582485

rs_1554997818

4 SubmittersRCV000673704 RCV001379499

NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)

SNV
Germline

Chr11:68050254

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6147442

rs_748659068

6 SubmittersRCV000668642 RCV001387137

NM_006019.4(TCIRG1):c.117+1G>A

SNV
Germline

Chr11:68041389

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224199757

rs_377303800

7 SubmittersRCV000667120 RCV000799615

NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr11:68042651

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Single Submitter

CA381575145

rs_1554995009

2 SubmittersRCV000667217 RCV001855477

NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)

SNV
Germline

Chr11:68042792

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA381576216

rs_1338631330

7 SubmittersRCV000798499 RCV000668174 RCV003411576

NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)

SNV
Germline

Chr11:68043496

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146753

rs_372826788

4 SubmittersRCV000664822 RCV002530635

NM_006019.4(TCIRG1):c.713+1G>C

SNV
Unknown

Chr11:68043654

Likely pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

CA381578823

rs_774308815

1 SubmittersRCV000674076

NM_006019.4(TCIRG1):c.1887+1G>C

SNV
Germline

Chr11:68049295

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381587583

rs_1554999205

3 SubmittersRCV000674525 RCV000819342

NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)

SNV
Germline

Chr11:68050664

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381592295

rs_1555000308

2 SubmittersRCV000674141

NM_006019.4(TCIRG1):c.2415-2A>G

SNV
Germline

Chr11:68050739

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381592419

rs_1555000376

4 SubmittersRCV000670013 RCV001797122

NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)

SNV
Unknown

Chr11:68042994

Likely pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

CA381576854

rs_1554995330

1 SubmittersRCV000670435

NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)

SNV
Unknown

Chr11:68043015

Likely pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

CA381576947

rs_1385741705

1 SubmittersRCV000674126

NM_006019.4(TCIRG1):c.630+2T>C

SNV
Germline

Chr11:68043499

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381578331

rs_1392364437

4 SubmittersRCV000666484 RCV001220161

NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)

SNV
Germline

Chr11:68044303

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6146858

rs_749361897

4 SubmittersRCV000665688 RCV001061622

NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)

SNV
Germline

Chr11:68044961

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Osteopetrosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381581036

rs_1159666762

5 SubmittersRCV000671340 RCV001199944 RCV002531278

NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)

SNV
Germline

Chr11:68047543

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381582425

rs_1489993984

6 SubmittersRCV000673534 RCV001390428

NM_006019.4(TCIRG1):c.1554+1G>T

SNV
Germline

Chr11:68047973

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381584693

rs_1439348400

5 SubmittersRCV000670092 RCV003679013

NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)

SNV
Germline

Chr11:68044150

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6146835

rs_543099977

5 SubmittersRCV000728504 RCV001109352 RCV004748923

NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)

SNV
Germline

Chr11:68048947

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6147204

rs_534950651

3 SubmittersRCV000730049 RCV001279342

NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)

SNV
Germline

Chr11:68050014

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1
Osteopetrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA381589473

rs_1590817956

4 SubmittersRCV000815242 RCV002501118 RCV004782563

NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys)

SNV
Germline

Chr11:68042753

Conflicting classifications of pathogenicity

TCIRG1-related disorder
Condition: not provided
Autosomal recessive osteopetrosis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6146694

rs_771198568

5 SubmittersRCV003930519 RCV000880633 RCV001276531 RCV002539295

NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)

SNV
Germline

Chr11:68047954

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6147153

rs_138049763

4 SubmittersRCV000880671 RCV001115090

NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=)

SNV
Germline

Chr11:68047536

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6147036

rs_147119709

4 SubmittersRCV000904965 RCV001276542 RCV004749528

NM_006019.4(TCIRG1):c.118-6C>T

SNV
Germline

Chr11:68041747

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6146660

rs_375317575

4 SubmittersRCV000915924 RCV001111573 RCV003950826

NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)

SNV
Germline

Chr11:68045033

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6146944

rs_148619884

3 SubmittersRCV000940052 RCV003141899

NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)

SNV
Germline

Chr11:68048954

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147210

rs_371505143

3 SubmittersRCV000985061 RCV001858610

NM_006019.4(TCIRG1):c.2415-1G>C

SNV
Germline

Chr11:68050740

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381592422

rs_1590819770

1 SubmittersRCV000991441

NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)

SNV
Germline

Chr11:68045051

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided
Osteopetrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6146949

rs_776436008

4 SubmittersRCV001030049 RCV002552435 RCV003155339

NM_006019.4(TCIRG1):c.1554+2T>A

SNV
Germline

Chr11:68047974

Pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1
Osteopetrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA6147160

rs_761918801

4 SubmittersRCV001057306 RCV001784608 RCV003155348

NM_006019.4(TCIRG1):c.21C>T (p.Ser7=)

SNV
Germline

Chr11:68041292

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA6146613

rs_373244328

4 SubmittersRCV001111572 RCV001407490 RCV003918693

NM_006019.4(TCIRG1):c.840G>A (p.Gln280=)

SNV
Germline

Chr11:68044164

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA475447334

rs_1436170727

2 SubmittersRCV001109353 RCV001488433

NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His)

SNV
Germline

Chr11:68049760

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6147339

rs_763065648

4 SubmittersRCV001111768 RCV002556178 RCV004671223

NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=)

SNV
Germline

Chr11:68050063

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6147384

rs_769840926

3 SubmittersRCV001112215 RCV001491086

NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=)

SNV
Germline

Chr11:68050774

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
TCIRG1-related disorder

Criteria Provided
Conflicting Classifications

CA224213914

rs_139049989

3 SubmittersRCV001113577 RCV001482392 RCV003945820

NM_006019.4(TCIRG1):c.504-12C>T

SNV
Germline

Chr11:68043359

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA600238561

rs_1263185890

2 SubmittersRCV001114993 RCV003769143

NM_006019.4(TCIRG1):c.1165+11C>T

SNV
Germline

Chr11:68045113

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146968

rs_745876497

2 SubmittersRCV001111673 RCV002069802

NM_006019.4(TCIRG1):c.1165+12G>A

SNV
Germline

Chr11:68045114

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146969

rs_199554924

2 SubmittersRCV001111674 RCV002069803

NM_006019.4(TCIRG1):c.1887+10G>A

SNV
Germline

Chr11:68049304

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA600238712

rs_1241903068

2 SubmittersRCV001111765 RCV002069805

NM_006019.4(TCIRG1):c.196+5G>A

SNV
Germline

Chr11:68041836

Pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA599931445

rs_1470999303

3 SubmittersRCV001208120 RCV003469339

NM_006019.4(TCIRG1):c.1306-2A>T

SNV
Germline

Chr11:68047645

Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381583320

rs_1855570841

2 SubmittersRCV001241777 RCV003469459

NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)

SNV
Germline

Chr11:68047967

Likely pathogenic

Osteopetrosis
Autosomal recessive osteopetrosis 1
Abnormality of the skeletal system
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6147157

rs_369264588

9 SubmittersRCV001251405 RCV001375862 RCV001814292 RCV002570450

NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)

SNV
Germline

Chr11:68041330

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
Autosomal recessive osteopetrosis 1
Mitochondrial complex I deficiency, nuclear type 2

Criteria Provided
Conflicting Classifications

CA6146622

rs_377034463

7 SubmittersRCV001278550 RCV002508303 RCV004731117

NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln)

SNV
Germline

Chr11:68044334

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6146867

rs_139263189

3 SubmittersRCV001279333 RCV001339257 RCV005286378

NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met)

SNV
Germline

Chr11:68047905

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6147142

rs_141474168

4 SubmittersRCV001279340 RCV002069456 RCV004035486

NM_006019.4(TCIRG1):c.1887+130C>T

SNV
Germline

Chr11:68049424

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

No Assertion Criteria Provided

CA224210000

rs_928213157

2 SubmittersRCV001279730 RCV003928815

NM_006019.4(TCIRG1):c.1887+131G>A

SNV
Germline

Chr11:68049425

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
TCIRG1-related disorder

No Assertion Criteria Provided

CA224210002

rs_78820476

2 SubmittersRCV001279731 RCV003945960

NM_006019.4(TCIRG1):c.418-21A>G

SNV
Germline

Chr11:68042925

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139662063

rs_1855249165

3 SubmittersRCV001289557 RCV005235555

NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr11:68049091

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381585906

rs_1855655612

5 SubmittersRCV001289553 RCV002538381

NM_006019.4(TCIRG1):c.196+1G>T

SNV
Germline

Chr11:68041832

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381574984

rs_2134432498

4 SubmittersRCV001379497 RCV002246359

NM_006019.4(TCIRG1):c.631-2A>C

SNV
Germline

Chr11:68043569

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381578374

rs_1214876593

2 SubmittersRCV001379498 RCV004570935

NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr11:68042822

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA224203027

rs_903939170

3 SubmittersRCV001383096 RCV003130516

NM_006019.4(TCIRG1):c.504-6C>A

SNV
Germline

Chr11:68043365

Pathogenic

Osteopetrosis
Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA224203753

rs_1028394725

5 SubmittersRCV001582343 RCV001866205 RCV002246445

NM_006019.4(TCIRG1):c.117+4A>C

SNV
Germline

Chr11:68041392

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6146639

rs_751881962

4 SubmittersRCV001810546 RCV001885295

NM_006019.4(TCIRG1):c.1888-1G>T

SNV
Germline

Chr11:68049662

Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381588663

rs_2134462513

2 SubmittersRCV002024136 RCV003464396

NM_006019.4(TCIRG1):c.1021-1G>T

SNV
Germline

Chr11:68044957

Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381581022

rs_1590807544

3 SubmittersRCV002006181 RCV003464360

NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter)

SNV
Germline

Chr11:68043887

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA224204321

rs_1003722483

3 SubmittersRCV001918015 RCV003464214

NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr11:68043390

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381577131

rs_2134437954

3 SubmittersRCV001939521 RCV003471155

NM_006019.4(TCIRG1):c.117+5G>A

SNV
Germline

Chr11:68041393

Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2573147490

rs_2134430922

3 SubmittersRCV002010221 RCV003471241

NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)

SNV
Germline

Chr11:68043497

Pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA475446380

rs_1293760338

2 SubmittersRCV001956449 RCV003471190

NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)

SNV
Germline

Chr11:68043628

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381578678

rs_1156299579

4 SubmittersRCV002246627 RCV001983014

NM_006019.4(TCIRG1):c.807+2T>G

SNV
Germline

Chr11:68043909

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381579623

rs_2134440422

1 SubmittersRCV002247757

NM_006019.4(TCIRG1):c.2014-1G>A

SNV
Germline

Chr11:68049961

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381589142

rs_1197237618

2 SubmittersRCV002247758

NM_006019.4(TCIRG1):c.1165+1G>C

SNV
Germline

Chr11:68045103

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6146967

rs_780745598

2 SubmittersRCV002247759 RCV005095803

NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter)

SNV
Germline

Chr11:68044293

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381580766

rs_2134442342

1 SubmittersRCV002247765

NM_006019.4(TCIRG1):c.2236+1G>C

SNV
Germline

Chr11:68050255

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381590880

rs_1475338876

1 SubmittersRCV002247771

NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter)

SNV
Germline

Chr11:68049292

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381587555

rs_895239701

2 SubmittersRCV002247772 RCV005095804

NM_006019.4(TCIRG1):c.1020+2T>A

SNV
Germline

Chr11:68044346

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381580963

rs_2495628456

2 SubmittersRCV003037412 RCV005254691

NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)

SNV
Germline

Chr11:68047495

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

CA6147026

rs_775902505

3 SubmittersRCV003058332 RCV003485809

NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr11:68047728

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA6147091

rs_774578979

2 SubmittersRCV002721147 RCV003464589

NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr11:68050164

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381590182

rs_2495667919

2 SubmittersRCV002862743 RCV003465850

NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)

SNV
Germline

Chr11:68050574

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1
Osteopetrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA381591621

rs_2495671613

3 SubmittersRCV003328859 RCV003466063 RCV005406666

NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)

SNV
Germline

Chr11:68042974

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224203244

rs_979358405

3 SubmittersRCV003464666 RCV003779124

NM_006019.4(TCIRG1):c.418-1G>C

SNV
Germline

Chr11:68042945

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381576650

rs_2495616858

2 SubmittersRCV003466431 RCV003565682

NM_006019.4(TCIRG1):c.1673+2T>C

SNV
Unknown

Chr11:68048999

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA6147218

rs_747048627

1 SubmittersRCV003466432

NM_006019.4(TCIRG1):c.808-2A>C

SNV
Unknown

Chr11:68044130

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381579687

rs_2495626690

1 SubmittersRCV003464670

NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)

SNV
Germline

Chr11:68047801

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381584336

rs_2495648021

2 SubmittersRCV003466433 RCV005100230

NM_006019.4(TCIRG1):c.1887+1G>A

SNV
Germline

Chr11:68049295

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381587581

rs_1554999205

2 SubmittersRCV003466434 RCV003720929

NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)

SNV
Unknown

Chr11:68050627

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381592065

rs_765444519

1 SubmittersRCV003466435

NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)

SNV
Germline

Chr11:68043587

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381578463

rs_2495621829

2 SubmittersRCV003464672 RCV003779125

NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)

SNV
Unknown

Chr11:68043872

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA224204312

rs_866821968

1 SubmittersRCV003466436

NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)

SNV
Germline

Chr11:68044292

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381580757

rs_1327818531

2 SubmittersRCV003466438 RCV003779126

NM_006019.4(TCIRG1):c.503+5G>A

SNV
Unknown

Chr11:68043036

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA1980461950

rs_1855256745

1 SubmittersRCV003464674

NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)

SNV
Unknown

Chr11:68042807

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381576302

rs_1855236679

1 SubmittersRCV003464675

NM_006019.4(TCIRG1):c.2414+1G>T

SNV
Unknown

Chr11:68050665

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381592307

rs_1197127947

1 SubmittersRCV003466439

NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)

SNV
Unknown

Chr11:68049189

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381586791

rs_773769785

1 SubmittersRCV003466440

NM_006019.4(TCIRG1):c.807+1G>A

SNV
Germline

Chr11:68043908

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381579614

rs_1458295257

2 SubmittersRCV003464677 RCV005100231

NM_006019.4(TCIRG1):c.1674-1G>C

SNV
Germline

Chr11:68049080

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381585832

rs_139617644

2 SubmittersRCV003464679 RCV003779127

NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)

SNV
Unknown

Chr11:68044222

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381580365

rs_762259521

1 SubmittersRCV003464680

NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)

SNV
Unknown

Chr11:68044343

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381580949

rs_201172503

1 SubmittersRCV003466443

NM_006019.4(TCIRG1):c.1020+1G>T

SNV
Unknown

Chr11:68044345

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381580958

rs_1855356909

1 SubmittersRCV003466444

NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)

SNV
Germline

Chr11:68043845

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381579135

rs_751988410

2 SubmittersRCV003464682 RCV003679226

NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr11:68047898

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381584468

rs_1855589148

2 SubmittersRCV003464683 RCV003699112

NM_006019.4(TCIRG1):c.1554+1G>A

SNV
Unknown

Chr11:68047973

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA381584691

rs_1439348400

1 SubmittersRCV003464686

NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)

SNV
Unknown

Chr11:68047954

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

CA224208718

rs_138049763

1 SubmittersRCV003466445

NM_006019.4(TCIRG1):c.2119-2A>C

SNV
Germline

Chr11:68050135

Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381589951

rs_2495667681

2 SubmittersRCV003557627 RCV004574105

NM_006019.4(TCIRG1):c.927C>A (p.Cys309Ter)

SNV
Germline

Chr11:68044251

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381580542

rs_2495627659

2 SubmittersRCV005051348 RCV003563543

NM_006019.4(TCIRG1):c.2011C>T (p.Gln671Ter)

SNV
Unknown

Chr11:68049786

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

rs_2495664524

1 SubmittersRCV004573704

NM_006019.4(TCIRG1):c.-5+1G>C

SNV
Unknown

Chr11:68039120

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

rs_917505107

1 SubmittersRCV004573707

NM_006019.4(TCIRG1):c.2377G>A (p.Gly793Arg)

SNV
Germline

Chr11:68050627

Conflicting classifications of pathogenicity

not specified
Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690619 RCV005051464

NM_006019.4(TCIRG1):c.418-1G>T

SNV
Germline

Chr11:68042945

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005051109

NM_006019.4(TCIRG1):c.1787G>A (p.Trp596Ter)

SNV
Germline

Chr11:68049194

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV005051116

NM_006019.4(TCIRG1):c.2415-1G>T

SNV
Germline

Chr11:68050740

Likely pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

1 SubmittersRCV005612033