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.1674G>A (p.Val558=)	SNV Germline	Chr11:68049081	Pathogenic	Autosomal recessive osteopetrosis 1	No Assertion Criteria Provided		rs_745971874	1 SubmittersRCV000005794
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	Criteria Provided Multiple Submitters No Conflicts		rs_751881962	9 SubmittersRCV000005795 RCV000822060 RCV002512814 RCV004017229
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	9 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	3 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	Criteria Provided Conflicting Classifications	CA6147031	rs_140963213	11 SubmittersRCV000224875 RCV000509143 RCV002277583
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	7 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.1209G>A (p.Met403Ile)	SNV Germline	Chr11:68047476	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 TCIRG1-related disorder	Criteria Provided Conflicting Classifications	CA6147023	rs_140191063	4 SubmittersRCV000345603 RCV000778337 RCV003930132
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.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	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications	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	4 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	Criteria Provided Conflicting Classifications	CA10639254	rs_886048597	2 SubmittersRCV000272677 RCV001505103
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	Criteria Provided Single Submitter	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	Criteria Provided Conflicting Classifications	CA6147425	rs_145718040	6 SubmittersRCV000593143 RCV001112217 RCV003925777
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		rs_116001129	3 SubmittersRCV000668036 RCV002530734
NM_006019.4(TCIRG1):c.713+1G>T	SNV Germline	Chr11:68043654	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided Chorea-acanthocytosis	Criteria Provided Multiple Submitters No Conflicts		rs_774308815	3 SubmittersRCV000670922 RCV003558513 RCV003444632
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		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 Multiple Submitters No Conflicts		rs_1554997884	2 SubmittersRCV000669567 RCV001224386
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)	SNV Germline	Chr11:68047713	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications		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		rs_758977199	4 SubmittersRCV000666560 RCV001040779
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	SNV Germline	Chr11:68049783	Pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided Osteopetrosis	Criteria Provided Multiple Submitters No Conflicts		rs_371263807	8 SubmittersRCV000666300 RCV000819121 RCV001199854
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		rs_1475338876	7 SubmittersRCV000674460 RCV001062506
NM_006019.4(TCIRG1):c.-5+1G>T	SNV Unknown	Chr11:68039120	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts		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 Multiple Submitters No Conflicts		rs_1554995381	2 SubmittersRCV000674837 RCV001861849
NM_006019.4(TCIRG1):c.630+1G>T	SNV Germline	Chr11:68043498	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		rs_137853150	3 SubmittersRCV000667452 RCV001377672
NM_006019.4(TCIRG1):c.1305+2T>C	SNV Germline	Chr11:68047574	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554997818	3 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		rs_748659068	5 SubmittersRCV000668642 RCV001387137
NM_006019.4(TCIRG1):c.117+1G>A	SNV Germline	Chr11:68041389	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_377303800	6 SubmittersRCV000667120 RCV000799615
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter)	SNV Germline	Chr11:68042651	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554995009	2 SubmittersRCV000667217 RCV001855477
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)	SNV Germline	Chr11:68042792	Pathogenic/Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided TCIRG1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1338631330	5 SubmittersRCV000668174 RCV000798499 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		rs_372826788	4 SubmittersRCV000664822 RCV002530635
NM_006019.4(TCIRG1):c.713+1G>C	SNV Unknown	Chr11:68043654	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		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		rs_1554999205	3 SubmittersRCV000674525 RCV000819342
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		rs_1555000376	4 SubmittersRCV000670013 RCV001797122
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter)	SNV Unknown	Chr11:68042994	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		rs_1554995330	1 SubmittersRCV000670435
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter)	SNV Unknown	Chr11:68043015	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		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		rs_1392364437	4 SubmittersRCV000666484 RCV001220161
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)	SNV Germline	Chr11:68044303	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Conflicting Classifications		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		rs_1159666762	4 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		rs_1489993984	5 SubmittersRCV000673534 RCV001390428
NM_006019.4(TCIRG1):c.1554+1G>T	SNV Germline	Chr11:68047973	Likely pathogenic	Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1439348400	3 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	Criteria Provided Conflicting Classifications		rs_543099977	4 SubmittersRCV000728504 RCV001109352
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1590817956	2 SubmittersRCV000815242 RCV002501118
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys)	SNV Germline	Chr11:68042753	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive osteopetrosis 1 Inborn genetic diseases TCIRG1-related disorder	Criteria Provided Conflicting Classifications		rs_771198568	4 SubmittersRCV000880633 RCV001276531 RCV002539295 RCV003930519
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		rs_138049763	4 SubmittersRCV000880671 RCV001115090
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		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		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		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		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		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		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		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		rs_1436170727	2 SubmittersRCV001109353 RCV001488433
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		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		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		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		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		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		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		rs_1470999303	2 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		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		rs_369264588	6 SubmittersRCV001251405 RCV001375862 RCV001814292 RCV002570450
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		rs_141474168	3 SubmittersRCV001279340 RCV002069456 RCV004035486
NM_006019.4(TCIRG1):c.418-21A>G	SNV Germline	Chr11:68042925	Conflicting classifications of pathogenicity	Autosomal recessive osteopetrosis 1	Criteria Provided Conflicting Classifications		rs_1855249165	2 SubmittersRCV001289557
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		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		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		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		rs_903939170	3 SubmittersRCV001383096 RCV003130516
NM_006019.4(TCIRG1):c.504-6C>A	SNV Germline	Chr11:68043365	Pathogenic	Osteopetrosis Autosomal recessive osteopetrosis 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1028394725	4 SubmittersRCV001582343 RCV002246445 RCV001866205
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		rs_751881962	3 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		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		rs_1590807544	2 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		rs_1003722483	2 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		rs_2134437954	2 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		rs_2134430922	2 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		rs_1293760338	2 SubmittersRCV001956449 RCV003471190
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)	SNV Germline	Chr11:68043628	Pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts		rs_1156299579	4 SubmittersRCV001983014 RCV002246627
NM_006019.4(TCIRG1):c.807+2T>G	SNV Germline	Chr11:68043909	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		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		rs_1197237618	1 SubmittersRCV002247758
NM_006019.4(TCIRG1):c.1165+1G>C	SNV Germline	Chr11:68045103	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		rs_780745598	1 SubmittersRCV002247759
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter)	SNV Germline	Chr11:68044293	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		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		rs_1475338876	1 SubmittersRCV002247771
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter)	SNV Germline	Chr11:68049292	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter		rs_895239701	1 SubmittersRCV002247772
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			2 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			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			2 SubmittersRCV002862743 RCV003465850
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)	SNV Germline	Chr11:68050574	Likely pathogenic	Condition: not provided Autosomal recessive osteopetrosis 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003328859 RCV003466063
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			2 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			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			1 SubmittersRCV003466432
NM_006019.4(TCIRG1):c.808-2A>C	SNV Unknown	Chr11:68044130	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003464670
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)	SNV Unknown	Chr11:68047801	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003466433
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			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			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			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			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			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			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			1 SubmittersRCV003464675
NM_006019.4(TCIRG1):c.2414+1G>T	SNV Unknown	Chr11:68050665	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			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			1 SubmittersRCV003466440
NM_006019.4(TCIRG1):c.807+1G>A	SNV Unknown	Chr11:68043908	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV003464677
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			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			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			1 SubmittersRCV003466443
NM_006019.4(TCIRG1):c.1020+1G>T	SNV Unknown	Chr11:68044345	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003464686
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)	SNV Unknown	Chr11:68047954	Pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			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			2 SubmittersRCV003557627 RCV004574105
NM_006019.4(TCIRG1):c.2011C>T (p.Gln671Ter)	SNV Unknown	Chr11:68049786	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV004573704
NM_006019.4(TCIRG1):c.-5+1G>C	SNV Unknown	Chr11:68039120	Likely pathogenic	Autosomal recessive osteopetrosis 1	Criteria Provided Single Submitter			1 SubmittersRCV004573707

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.1674G>A (p.Val558=)

SNV
Germline

Chr11:68049081

Pathogenic

Autosomal recessive osteopetrosis 1

No Assertion Criteria Provided

rs_745971874

1 SubmittersRCV000005794

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_751881962

9 SubmittersRCV000005795 RCV000822060 RCV002512814 RCV004017229

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

9 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

3 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

Criteria Provided
Conflicting Classifications

CA6147031

rs_140963213

11 SubmittersRCV000224875 RCV000509143 RCV002277583

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

7 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.1209G>A (p.Met403Ile)

SNV
Germline

Chr11:68047476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6147023

rs_140191063

4 SubmittersRCV000345603 RCV000778337 RCV003930132

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.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

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

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

4 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

Criteria Provided
Conflicting Classifications

CA10639254

rs_886048597

2 SubmittersRCV000272677 RCV001505103

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

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

CA6147425

rs_145718040

6 SubmittersRCV000593143 RCV001112217 RCV003925777

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

rs_116001129

3 SubmittersRCV000668036 RCV002530734

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

SNV
Germline

Chr11:68043654

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided
Chorea-acanthocytosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_774308815

3 SubmittersRCV000670922 RCV003558513 RCV003444632

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

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
Multiple Submitters
No Conflicts

rs_1554997884

2 SubmittersRCV000669567 RCV001224386

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

SNV
Germline

Chr11:68047713

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

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

rs_758977199

4 SubmittersRCV000666560 RCV001040779

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

SNV
Germline

Chr11:68049783

Pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided
Osteopetrosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_371263807

8 SubmittersRCV000666300 RCV000819121 RCV001199854

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

rs_1475338876

7 SubmittersRCV000674460 RCV001062506

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

SNV
Unknown

Chr11:68039120

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

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
Multiple Submitters
No Conflicts

rs_1554995381

2 SubmittersRCV000674837 RCV001861849

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

SNV
Germline

Chr11:68043498

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_137853150

3 SubmittersRCV000667452 RCV001377672

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

SNV
Germline

Chr11:68047574

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554997818

3 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

rs_748659068

5 SubmittersRCV000668642 RCV001387137

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

SNV
Germline

Chr11:68041389

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377303800

6 SubmittersRCV000667120 RCV000799615

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

SNV
Germline

Chr11:68042651

Pathogenic/Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554995009

2 SubmittersRCV000667217 RCV001855477

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

SNV
Germline

Chr11:68042792

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1338631330

5 SubmittersRCV000668174 RCV000798499 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

rs_372826788

4 SubmittersRCV000664822 RCV002530635

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

SNV
Unknown

Chr11:68043654

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

rs_1554999205

3 SubmittersRCV000674525 RCV000819342

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

rs_1555000376

4 SubmittersRCV000670013 RCV001797122

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

SNV
Unknown

Chr11:68042994

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

rs_1554995330

1 SubmittersRCV000670435

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

SNV
Unknown

Chr11:68043015

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

rs_1392364437

4 SubmittersRCV000666484 RCV001220161

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

SNV
Germline

Chr11:68044303

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

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

rs_1159666762

4 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

rs_1489993984

5 SubmittersRCV000673534 RCV001390428

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

SNV
Germline

Chr11:68047973

Likely pathogenic

Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1439348400

3 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

Criteria Provided
Conflicting Classifications

rs_543099977

4 SubmittersRCV000728504 RCV001109352

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1590817956

2 SubmittersRCV000815242 RCV002501118

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

SNV
Germline

Chr11:68042753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771198568

4 SubmittersRCV000880633 RCV001276531 RCV002539295 RCV003930519

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

rs_138049763

4 SubmittersRCV000880671 RCV001115090

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

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

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

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

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

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

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

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

rs_1436170727

2 SubmittersRCV001109353 RCV001488433

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

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

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

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

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

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

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

rs_1470999303

2 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

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

rs_369264588

6 SubmittersRCV001251405 RCV001375862 RCV001814292 RCV002570450

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

rs_141474168

3 SubmittersRCV001279340 RCV002069456 RCV004035486

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

SNV
Germline

Chr11:68042925

Conflicting classifications of pathogenicity

Autosomal recessive osteopetrosis 1

Criteria Provided
Conflicting Classifications

rs_1855249165

2 SubmittersRCV001289557

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

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

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

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

rs_903939170

3 SubmittersRCV001383096 RCV003130516

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

SNV
Germline

Chr11:68043365

Pathogenic

Osteopetrosis
Autosomal recessive osteopetrosis 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1028394725

4 SubmittersRCV001582343 RCV002246445 RCV001866205

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

rs_751881962

3 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

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

rs_1590807544

2 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

rs_1003722483

2 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

rs_2134437954

2 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

rs_2134430922

2 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

rs_1293760338

2 SubmittersRCV001956449 RCV003471190

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

SNV
Germline

Chr11:68043628

Pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1156299579

4 SubmittersRCV001983014 RCV002246627

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

SNV
Germline

Chr11:68043909

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

rs_1197237618

1 SubmittersRCV002247758

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

SNV
Germline

Chr11:68045103

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

rs_780745598

1 SubmittersRCV002247759

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

SNV
Germline

Chr11:68044293

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

rs_1475338876

1 SubmittersRCV002247771

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

SNV
Germline

Chr11:68049292

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

rs_895239701

1 SubmittersRCV002247772

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

2 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

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

2 SubmittersRCV002862743 RCV003465850

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

SNV
Germline

Chr11:68050574

Likely pathogenic

Condition: not provided
Autosomal recessive osteopetrosis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003328859 RCV003466063

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

2 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

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

1 SubmittersRCV003466432

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

SNV
Unknown

Chr11:68044130

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003464670

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

SNV
Unknown

Chr11:68047801

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003466433

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

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

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

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

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

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

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

1 SubmittersRCV003464675

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

SNV
Unknown

Chr11:68050665

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

1 SubmittersRCV003466440

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

SNV
Unknown

Chr11:68043908

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003464677

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

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

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

1 SubmittersRCV003466443

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

SNV
Unknown

Chr11:68044345

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003464686

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

SNV
Unknown

Chr11:68047954

Pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV003557627 RCV004574105

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

SNV
Unknown

Chr11:68049786

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004573704

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

SNV
Unknown

Chr11:68039120

Likely pathogenic

Autosomal recessive osteopetrosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV004573707