Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)	SNV Germline	Chr3:120644405	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA340042	rs_28942100	7 SubmittersRCV000003315
NM_000187.4(HGD):c.899T>G (p.Val300Gly)	SNV Germline	Chr3:120638562	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA340043	rs_120074170	6 SubmittersRCV000003316
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	SNV Germline	Chr3:120647041	Pathogenic	Alkaptonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340044	rs_28941783	11 SubmittersRCV000003318 RCV001725928
NM_000187.4(HGD):c.16-1G>A	SNV Germline	Chr3:120675864	Pathogenic	Alkaptonuria Condition: not provided HGD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340046	rs_397515347	11 SubmittersRCV000003320 RCV004597723 RCV004751195
NM_000187.4(HGD):c.1112A>G (p.His371Arg)	SNV Germline	Chr3:120633223	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA277917	rs_120074172	4 SubmittersRCV000003322
NM_000187.4(HGD):c.1102A>G (p.Met368Val)	SNV Germline	Chr3:120633233	Pathogenic	Alkaptonuria Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA340048	rs_120074173	13 SubmittersRCV000003323 RCV002279945 RCV004584308
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)	SNV Germline	Chr3:120641660	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA340049	rs_120074174	8 SubmittersRCV000003325
NM_000187.4(HGD):c.140C>T (p.Ser47Leu)	SNV Germline	Chr3:120674937	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA344903	rs_369517993	2 SubmittersRCV003387491
NM_000187.4(HGD):c.342+1G>A	SNV Germline	Chr3:120652591	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA344905	rs_397515518	5 SubmittersRCV000055781
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)	SNV Germline	Chr3:120650848	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA344906	rs_149165166	5 SubmittersRCV000055782
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)	SNV Germline	Chr3:120628382	Conflicting classifications of pathogenicity	Alkaptonuria Condition: not provided	Criteria Provided Conflicting Classifications	CA277984	rs_143370662	4 SubmittersRCV000169039 RCV003225036
NM_000187.4(HGD):c.674G>A (p.Arg225His)	SNV Germline	Chr3:120644419	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA277989	rs_562853291	5 SubmittersRCV000169601
NM_000187.4(HGD):c.365C>T (p.Ala122Val)	SNV Germline	Chr3:120650843	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA277986	rs_544956641	7 SubmittersRCV000169217
NM_000187.4(HGD):c.342+1G>T	SNV Germline	Chr3:120652591	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA277988	rs_397515518	4 SubmittersRCV000169542
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)	SNV Germline	Chr3:120682101	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA277982	rs_786204422	4 SubmittersRCV000169012
NM_000187.4(HGD):c.550-14G>C	SNV Germline	Chr3:120646380	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560155	rs_769000073	2 SubmittersRCV000404363
NM_000187.4(HGD):c.141G>A (p.Ser47=)	SNV Germline	Chr3:120674936	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560338	rs_541268108	2 SubmittersRCV000260518
NM_000187.4(HGD):c.1176C>T (p.Ala392=)	SNV Germline	Chr3:120633159	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2559957	rs_368805723	2 SubmittersRCV000376240
NM_000187.4(HGD):c.880-4A>G	SNV Germline	Chr3:120638585	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560020	rs_781667761	2 SubmittersRCV000282585
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)	SNV Germline	Chr3:120652627	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560267	rs_559502955	3 SubmittersRCV000359600
NM_000187.4(HGD):c.1206A>G (p.Ser402=)	SNV Germline	Chr3:120628512	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2559929	rs_140500816	2 SubmittersRCV000271274
NM_000187.4(HGD):c.765T>C (p.Ala255=)	SNV Germline	Chr3:120644328	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560081	rs_747764475	2 SubmittersRCV000387482
NM_000187.4(HGD):c.474G>A (p.Pro158=)	SNV Germline	Chr3:120647048	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560178	rs_2293734	2 SubmittersRCV000344698
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	SNV Germline	Chr3:120628517	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2559930	rs_767159114	5 SubmittersRCV000409498
NM_000187.4(HGD):c.1188+1G>T	SNV Germline	Chr3:120633146	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA2559950	rs_760206323	3 SubmittersRCV000409868
NM_000187.4(HGD):c.649+2T>C	SNV Germline	Chr3:120646265	Pathogenic/Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA16040890	rs_1057516307	2 SubmittersRCV000411569
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)	SNV Germline	Chr3:120670530	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA16040896	rs_1057516467	3 SubmittersRCV000409762
NM_000187.4(HGD):c.177-1G>A	SNV Unknown	Chr3:120670533	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA16040897	rs_1057517370	1 SubmittersRCV000411822
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	SNV Germline	Chr3:120674919	Pathogenic/Likely pathogenic	Alkaptonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2560335	rs_200808744	4 SubmittersRCV000412076 RCV001726153
NM_000187.4(HGD):c.15+1G>A	SNV Germline	Chr3:120682096	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA16040900	rs_552207335	3 SubmittersRCV000410834
NM_000187.4(HGD):c.3G>C (p.Met1Ile)	SNV Germline	Chr3:120682109	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA16040901	rs_1057516355	2 SubmittersRCV000412049
NM_000187.4(HGD):c.189G>T (p.Arg63Ser)	SNV Germline	Chr3:120670520	Pathogenic	Alkaptonuria See cases	Criteria Provided Multiple Submitters No Conflicts	CA354081558	rs_1390061303	3 SubmittersRCV000503877 RCV004584392
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)	SNV Germline	Chr3:120647049	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560180	rs_375396766	4 SubmittersRCV000668985
NM_000187.4(HGD):c.559C>G (p.Arg187Gly)	SNV Germline	Chr3:120646357	Conflicting classifications of pathogenicity	Alkaptonuria	No Assertion Criteria Provided	CA354076811	rs_756255206	2 SubmittersRCV000671938
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)	SNV Germline	Chr3:120650861	Pathogenic/Likely pathogenic	Alkaptonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2560232	rs_569846003	7 SubmittersRCV000670576 RCV005427236
NM_000187.4(HGD):c.1120G>C (p.Asp374His)	SNV Germline	Chr3:120633215	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA81777915	rs_981454067	4 SubmittersRCV000664925
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)	SNV Germline	Chr3:120633254	Conflicting classifications of pathogenicity	Alkaptonuria	No Assertion Criteria Provided	CA354072879	rs_765219004	2 SubmittersRCV000665152
NM_000187.4(HGD):c.879+1G>A	SNV Unknown	Chr3:120641588	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073848	rs_1553716979	1 SubmittersRCV000672087
NM_000187.4(HGD):c.455G>C (p.Gly152Ala)	SNV Germline	Chr3:120647891	Conflicting classifications of pathogenicity	Alkaptonuria	No Assertion Criteria Provided	CA354077394	rs_1553717936	2 SubmittersRCV000664709
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	SNV Germline	Chr3:120633257	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2559972	rs_368717991	3 SubmittersRCV000793180
NM_000187.4(HGD):c.919C>T (p.Arg307Cys)	SNV Germline	Chr3:120638542	Conflicting classifications of pathogenicity	Alkaptonuria Condition: not provided	Criteria Provided Conflicting Classifications	CA2560016	rs_143556739	4 SubmittersRCV000879173 RCV004711364
NM_000187.4(HGD):c.221A>T (p.Glu74Val)	SNV Germline	Chr3:120670488	Conflicting classifications of pathogenicity	Alkaptonuria Condition: not provided	Criteria Provided Conflicting Classifications	CA2560306	rs_141965690	5 SubmittersRCV000882319 RCV003225134
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)	SNV Germline	Chr3:120633221	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354072811	rs_1940645842	3 SubmittersRCV001067792
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)	SNV Germline	Chr3:120633296	Pathogenic/Likely pathogenic	Alkaptonuria Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA81778012	rs_975005146	4 SubmittersRCV001054603 RCV004792682
NM_000187.4(HGD):c.680T>C (p.Phe227Ser)	SNV Germline	Chr3:120644413	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354075457	rs_1941093400	3 SubmittersRCV001037383
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)	SNV Germline	Chr3:120652643	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560269	rs_766714128	3 SubmittersRCV001061073
NM_000187.4(HGD):c.753C>T (p.Gly251=)	SNV Germline	Chr3:120644340	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA435227677	rs_1357020990	2 SubmittersRCV001075890
NM_000187.4(HGD):c.1266C>T (p.Asn422=)	SNV Germline	Chr3:120628452	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA435224086	rs_1417213536	2 SubmittersRCV001146326
NM_000187.4(HGD):c.177-5T>C	SNV Germline	Chr3:120670537	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2560310	rs_768308376	2 SubmittersRCV001146463
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)	SNV Germline	Chr3:120644428	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354075549	rs_1576294110	2 SubmittersRCV001194660
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)	SNV Germline	Chr3:120646986	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA81787043	rs_1031569954	2 SubmittersRCV001194659
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)	SNV Germline	Chr3:120650795	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354078016	rs_1941316527	1 SubmittersRCV001194658
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)	SNV Germline	Chr3:120674946	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354082067	rs_1708095030	2 SubmittersRCV001194657
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)	SNV Germline	Chr3:120674950	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354082091	rs_1243059404	2 SubmittersRCV001194656
NM_000187.4(HGD):c.1A>G (p.Met1Val)	SNV Germline	Chr3:120682111	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354084277	rs_1708240463	2 SubmittersRCV001194655
NM_000187.4(HGD):c.502G>A (p.Glu168Lys)	SNV Germline	Chr3:120647020	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560173	rs_375283568	3 SubmittersRCV001215109
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)	SNV Germline	Chr3:120674920	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560336	rs_759435977	5 SubmittersRCV001242145
NM_000187.4(HGD):c.469+2T>C	SNV Germline	Chr3:120647875	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560198	rs_745333667	3 SubmittersRCV001232918
NM_000187.4(HGD):c.469+1G>C	SNV Germline	Chr3:120647876	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354077326	rs_1260545974	3 SubmittersRCV001242049
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)	SNV Germline	Chr3:120650841	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560227	rs_564979861	3 SubmittersRCV001376082
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)	SNV Germline	Chr3:120646350	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354076785	rs_2107510544	2 SubmittersRCV001376105
NM_000187.4(HGD):c.1188+1G>A	SNV Germline	Chr3:120633146	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA2559951	rs_760206323	2 SubmittersRCV001386852
NM_000187.4(HGD):c.1006+2T>A	SNV Germline	Chr3:120638453	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354073259	rs_1320184173	2 SubmittersRCV001381505
NM_000187.4(HGD):c.583G>T (p.Glu195Ter)	SNV Germline	Chr3:120646333	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354076711	rs_1184695718	2 SubmittersRCV001389681
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)	SNV Germline	Chr3:120670523	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354081570	rs_2107548853	1 SubmittersRCV001389370
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)	SNV Germline	Chr3:120674952	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560344	rs_373921680	3 SubmittersRCV001384280
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)	SNV Germline	Chr3:120650865	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560233	rs_755734596	4 SubmittersRCV001542260
NM_000187.4(HGD):c.16-2063A>C	SNV Unknown	Chr3:120677926	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA545611477	rs_1168687230	1 SubmittersRCV001799115
NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)	SNV Germline	Chr3:120633251	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354072876	rs_2107489383	2 SubmittersRCV001799116
NM_000187.4(HGD):c.502G>T (p.Glu168Ter)	SNV Germline	Chr3:120647020	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354077072	rs_375283568	2 SubmittersRCV002021839
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)	SNV Germline	Chr3:120641647	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354073978	rs_1397264922	2 SubmittersRCV001999116
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)	SNV Germline	Chr3:120644420	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560100	rs_756789146	3 SubmittersRCV002023302
NM_000187.4(HGD):c.11T>C (p.Leu4Ser)	SNV Germline	Chr3:120682101	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354084238	rs_786204422	3 SubmittersRCV001946825
NM_000187.4(HGD):c.283-1G>A	SNV Germline	Chr3:120652652	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354078827	rs_2107522179	1 SubmittersRCV002003374
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)	SNV Germline	Chr3:120628449	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354072214	rs_1186509068	1 SubmittersRCV001956399
NM_000187.4(HGD):c.368G>A (p.Gly123Glu)	SNV Germline	Chr3:120650840	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA81789630	rs_374473331	2 SubmittersRCV002026291
NM_000187.4(HGD):c.1007-2A>T	SNV Germline	Chr3:120633330	Pathogenic	Alkaptonuria HGD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA354073049	rs_1559781702	4 SubmittersRCV001949356 RCV003401973
NM_000187.4(HGD):c.359G>T (p.Cys120Phe)	SNV Germline	Chr3:120650849	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560230	rs_752153829	3 SubmittersRCV001884025
NM_000187.4(HGD):c.775-1G>A	SNV Germline	Chr3:120641694	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354074082	rs_2107502859	1 SubmittersRCV002010401
NM_000187.4(HGD):c.532G>T (p.Glu178Ter)	SNV Germline	Chr3:120646990	Pathogenic/Likely pathogenic	Condition: not provided HGD-related disorder Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354076949	rs_1941184654	5 SubmittersRCV002254498 RCV003943328 RCV003989139
NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)	SNV Unknown	Chr3:120644346	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354075020	rs_2472689579	1 SubmittersRCV002306462
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)	SNV Unknown	Chr3:120644431	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354075561	rs_2472690316	1 SubmittersRCV002306482
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)	SNV Unknown	Chr3:120670523	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354081571	rs_2107548853	1 SubmittersRCV002310475
NM_000187.4(HGD):c.650-13T>G	SNV Germline	Chr3:120644456	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA2577865167	rs_2472690649	2 SubmittersRCV003068918
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)	SNV Germline	Chr3:120638500	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354073472	rs_1402437099	2 SubmittersRCV002651719
NM_000187.4(HGD):c.898G>C (p.Val300Leu)	SNV Germline	Chr3:120638563	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354073736	rs_886905654	1 SubmittersRCV002666755
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)	SNV Germline	Chr3:120644394	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354075324	rs_2472689944	1 SubmittersRCV002770588
NM_000187.4(HGD):c.177-1G>T	SNV Germline	Chr3:120670533	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354081610	rs_1057517370	1 SubmittersRCV002876271
NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)	SNV Germline	Chr3:120633238	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2559969	rs_759101002	2 SubmittersRCV002913642
NM_000187.4(HGD):c.1188+2T>A	SNV Germline	Chr3:120633145	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354072647	rs_2472651728	1 SubmittersRCV002953408
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)	SNV Germline	Chr3:120647040	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354077159	rs_1941187762	1 SubmittersRCV003016938
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)	SNV Germline	Chr3:120641648	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA81783975	rs_1056909521	1 SubmittersRCV003028652
NM_000187.4(HGD):c.880-2A>G	SNV Germline	Chr3:120638583	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354073823	rs_2472671527	1 SubmittersRCV003146013
NM_000187.4(HGD):c.342+3A>C	SNV Germline	Chr3:120652589	Conflicting classifications of pathogenicity	not specified Alkaptonuria	Criteria Provided Conflicting Classifications	CA545609670	rs_1182670238	3 SubmittersRCV003230892 RCV003337424
NM_000187.4(HGD):c.774+1G>T	SNV Germline	Chr3:120644318	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354074763	rs_2472689364	1 SubmittersRCV003336654
NM_000187.4(HGD):c.87+1G>A	SNV Germline	Chr3:120675791	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354082523	rs_2472804506	4 SubmittersRCV003336655
NM_000187.4(HGD):c.650-56G>A	SNV Germline	Chr3:120644499	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA897955913	rs_1377948705	1 SubmittersRCV003336663
NM_000187.4(HGD):c.650-17G>A	SNV Germline	Chr3:120644460	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA897955893	rs_1309894047	1 SubmittersRCV003336672
NM_000187.4(HGD):c.180G>A (p.Trp60Ter)	SNV Germline	Chr3:120670529	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081601	rs_2472786583	1 SubmittersRCV003336675
NM_000187.4(HGD):c.433A>T (p.Arg145Ter)	SNV Germline	Chr3:120650775	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077969	rs_2472716150	1 SubmittersRCV003336676
NM_000187.4(HGD):c.860C>A (p.Ser287Ter)	SNV Germline	Chr3:120641608	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073890	rs_2472681060	1 SubmittersRCV003336677
NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr3:120633275	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2559976	rs_780333531	1 SubmittersRCV003336678
NM_000187.4(HGD):c.649+39T>G	SNV Germline	Chr3:120646228	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2582342879	rs_1274321592	1 SubmittersRCV003336679
NM_000187.4(HGD):c.649+1G>A	SNV Germline	Chr3:120646266	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076301	rs_2472697711	1 SubmittersRCV003336680
NM_000187.4(HGD):c.470-1G>A	SNV Germline	Chr3:120647053	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077242	rs_2472702255	1 SubmittersRCV003336681
NM_000187.4(HGD):c.1188+8T>A	SNV Germline	Chr3:120633139	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA1397090683	rs_1940642048	1 SubmittersRCV003336682
NM_000187.4(HGD):c.550-2A>G	SNV Germline	Chr3:120646368	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076857	rs_2472698754	1 SubmittersRCV003336683
NM_000187.4(HGD):c.469+6T>C	SNV Germline	Chr3:120647871	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2582342882	rs_2472705278	1 SubmittersRCV003336684
NM_000187.4(HGD):c.549+1G>A	SNV Germline	Chr3:120646972	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076887	rs_1373462009	1 SubmittersRCV003337701
NM_000187.4(HGD):c.189G>A (p.Arg63=)	SNV Germline	Chr3:120670520	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA435229807	rs_1390061303	1 SubmittersRCV003337702
NM_000187.4(HGD):c.549+1G>T	SNV Germline	Chr3:120646972	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354076883	rs_1373462009	3 SubmittersRCV003337703
NM_000187.4(HGD):c.775-16T>A	SNV Germline	Chr3:120641709	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA81784084	rs_995182027	1 SubmittersRCV003337704
NM_000187.4(HGD):c.469+5G>A	SNV Germline	Chr3:120647872	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2577865317	rs_2472705290	1 SubmittersRCV003337705
NM_000187.4(HGD):c.177-2A>G	SNV Germline	Chr3:120670534	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560309	rs_762524252	1 SubmittersRCV003337706
NM_000187.4(HGD):c.550-2A>C	SNV Germline	Chr3:120646368	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076859	rs_2472698754	1 SubmittersRCV003337707
NM_000187.4(HGD):c.1006+6T>C	SNV Germline	Chr3:120638449	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA1397093063	rs_1576289072	1 SubmittersRCV003337708
NM_000187.4(HGD):c.15G>A (p.Lys5=)	SNV Germline	Chr3:120682097	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA435230120	rs_1708239888	1 SubmittersRCV003337709
NM_000187.4(HGD):c.171G>C (p.Lys57Asn)	SNV Germline	Chr3:120674906	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081843	rs_771669017	1 SubmittersRCV003387456
NM_000187.4(HGD):c.174A>T (p.Arg58Ser)	SNV Germline	Chr3:120674903	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081819	rs_2472800703	1 SubmittersRCV003387457
NM_000187.4(HGD):c.178T>G (p.Trp60Gly)	SNV Germline	Chr3:120670531	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081607	rs_775113388	1 SubmittersRCV003387458
NM_000187.4(HGD):c.182T>C (p.Leu61Pro)	SNV Germline	Chr3:120670527	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081589	rs_1324654414	1 SubmittersRCV003387459
NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)	SNV Germline	Chr3:120670525	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081584	rs_2472786530	1 SubmittersRCV003387460
NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)	SNV Germline	Chr3:120670524	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081580	rs_1174584850	1 SubmittersRCV003387461
NM_000187.4(HGD):c.217T>C (p.Phe73Leu)	SNV Germline	Chr3:120670492	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081423	rs_2472786163	1 SubmittersRCV003387462
NM_000187.4(HGD):c.274C>A (p.Pro92Thr)	SNV Germline	Chr3:120670435	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354081048	rs_2472785351	1 SubmittersRCV003387463
NM_000187.4(HGD):c.289T>C (p.Trp97Arg)	SNV Germline	Chr3:120652645	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078788	rs_2472725122	1 SubmittersRCV003387464
NM_000187.4(HGD):c.289T>G (p.Trp97Gly)	SNV Germline	Chr3:120652645	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354078786	rs_2472725122	2 SubmittersRCV003387465
NM_000187.4(HGD):c.52G>A (p.Asp18Asn)	SNV Germline	Chr3:120675827	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354082867	rs_2472804843	1 SubmittersRCV003387466
NM_000187.4(HGD):c.291G>C (p.Trp97Cys)	SNV Germline	Chr3:120652643	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078777	rs_766714128	1 SubmittersRCV003387467
NM_000187.4(HGD):c.299T>C (p.Phe100Ser)	SNV Germline	Chr3:120652635	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078730	rs_2472725001	1 SubmittersRCV003387468
NM_000187.4(HGD):c.334T>G (p.Phe112Val)	SNV Germline	Chr3:120652600	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354078514	rs_2472724557	2 SubmittersRCV003387469
NM_000187.4(HGD):c.335T>C (p.Phe112Ser)	SNV Germline	Chr3:120652599	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078509	rs_2472724534	1 SubmittersRCV003387470
NM_000187.4(HGD):c.362G>A (p.Gly121Glu)	SNV Germline	Chr3:120650846	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078122	rs_2472716929	1 SubmittersRCV003387471
NM_000187.4(HGD):c.365C>A (p.Ala122Asp)	SNV Germline	Chr3:120650843	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078118	rs_544956641	1 SubmittersRCV003387472
NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)	SNV Germline	Chr3:120675827	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354082863	rs_2472804843	1 SubmittersRCV003387473
NM_000187.4(HGD):c.368G>C (p.Gly123Ala)	SNV Germline	Chr3:120650840	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA81789629	rs_374473331	2 SubmittersRCV003387474
NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)	SNV Germline	Chr3:120650801	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078031	rs_2472716381	1 SubmittersRCV003387475
NM_000187.4(HGD):c.440T>C (p.Phe147Ser)	SNV Germline	Chr3:120647906	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077467	rs_2472705677	1 SubmittersRCV003387476
NM_000187.4(HGD):c.449C>T (p.Ser150Leu)	SNV Germline	Chr3:120647897	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA81787664	rs_541367417	1 SubmittersRCV003387477
NM_000187.4(HGD):c.457G>A (p.Asp153Asn)	SNV Germline	Chr3:120647889	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077391	rs_2472705466	1 SubmittersRCV003387478
NM_000187.4(HGD):c.469G>T (p.Val157Phe)	SNV Germline	Chr3:120647877	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077329	rs_1941214001	1 SubmittersRCV003387479
NM_000187.4(HGD):c.458A>G (p.Asp153Gly)	SNV Germline	Chr3:120647888	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560200	rs_775274569	1 SubmittersRCV003387480
NM_000187.4(HGD):c.473C>G (p.Pro158Arg)	SNV Germline	Chr3:120647049	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077220	rs_375396766	1 SubmittersRCV003387481
NM_000187.4(HGD):c.504G>C (p.Glu168Asp)	SNV Germline	Chr3:120647018	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560172	rs_780173554	3 SubmittersRCV003387482
NM_000187.4(HGD):c.507T>C (p.Phe169=)	SNV Germline	Chr3:120647015	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA435228003	rs_756134838	1 SubmittersRCV003387483
NM_000187.4(HGD):c.54T>A (p.Asp18Glu)	SNV Germline	Chr3:120675825	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560382	rs_765687351	1 SubmittersRCV003387484
NM_000187.4(HGD):c.500C>T (p.Thr167Ile)	SNV Germline	Chr3:120647022	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077082	rs_1232923788	1 SubmittersRCV003387485
NM_000187.4(HGD):c.74T>C (p.Leu25Pro)	SNV Germline	Chr3:120675805	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354082647	rs_2472804606	1 SubmittersRCV003387486
NM_000187.4(HGD):c.98A>G (p.Gln33Arg)	SNV Germline	Chr3:120674979	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354082246	rs_2472801442	1 SubmittersRCV003387487
NM_000187.4(HGD):c.454G>A (p.Gly152Arg)	SNV Germline	Chr3:120647892	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077401	rs_2472705545	1 SubmittersRCV003387488
NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)	SNV Germline	Chr3:120674958	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354082126	rs_747899770	1 SubmittersRCV003387489
NM_000187.4(HGD):c.130C>T (p.Leu44Phe)	SNV Germline	Chr3:120674947	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA81810313	rs_1049246177	1 SubmittersRCV003387490
NM_000187.4(HGD):c.508G>A (p.Gly170Ser)	SNV Germline	Chr3:120647014	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077044	rs_2472701905	1 SubmittersRCV003388974
NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)	SNV Germline	Chr3:120633286	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354072944	rs_1377735119	1 SubmittersRCV003388975
NM_000187.4(HGD):c.533A>G (p.Glu178Gly)	SNV Germline	Chr3:120646989	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076947	rs_2472701576	1 SubmittersRCV003388976
NM_000187.4(HGD):c.656A>G (p.Asn219Ser)	SNV Germline	Chr3:120644437	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075591	rs_2472690374	1 SubmittersRCV003388978
NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)	SNV Germline	Chr3:120633256	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354072882	rs_1172885188	1 SubmittersRCV003388980
NM_000187.4(HGD):c.557T>A (p.Met186Lys)	SNV Germline	Chr3:120646359	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354076823	rs_1941163113	2 SubmittersRCV003388981
NM_000187.4(HGD):c.509G>C (p.Gly170Ala)	SNV Germline	Chr3:120647013	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077036	rs_2107511857	1 SubmittersRCV003388982
NM_000187.4(HGD):c.614G>A (p.Gly205Asp)	SNV Germline	Chr3:120646302	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560145	rs_754802510	1 SubmittersRCV003388983
NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)	SNV Germline	Chr3:120633278	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354072927	rs_1274142542	1 SubmittersRCV003388984
NM_000187.4(HGD):c.515T>C (p.Met172Thr)	SNV Germline	Chr3:120647007	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077016	rs_2472701826	1 SubmittersRCV003388985
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)	SNV Germline	Chr3:120644419	Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2560099	rs_562853291	3 SubmittersRCV003388986
NM_000187.4(HGD):c.733G>T (p.Val245Phe)	SNV Germline	Chr3:120644360	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075120	rs_2472689679	1 SubmittersRCV003388987
NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)	SNV Germline	Chr3:120633326	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073039	rs_2472652730	1 SubmittersRCV003388988
NM_000187.4(HGD):c.513G>T (p.Lys171Asn)	SNV Germline	Chr3:120647009	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354077024	rs_2472701853	1 SubmittersRCV003388989
NM_000187.4(HGD):c.674G>T (p.Arg225Leu)	SNV Germline	Chr3:120644419	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075492	rs_562853291	1 SubmittersRCV003388990
NM_000187.4(HGD):c.773A>C (p.Gln258Pro)	SNV Germline	Chr3:120644320	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560078	rs_759843592	1 SubmittersRCV003388991
NM_000187.4(HGD):c.553G>A (p.Gly185Arg)	SNV Germline	Chr3:120646363	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076838	rs_2472698721	1 SubmittersRCV003388992
NM_000187.4(HGD):c.914C>T (p.Ser305Phe)	SNV Germline	Chr3:120638547	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073667	rs_2472671164	1 SubmittersRCV003388993
NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)	SNV Germline	Chr3:120633250	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354072873	rs_2472652160	1 SubmittersRCV003388994
NM_000187.4(HGD):c.549G>T (p.Gln183His)	SNV Germline	Chr3:120646973	Conflicting classifications of pathogenicity	Alkaptonuria not specified	Criteria Provided Conflicting Classifications	CA2560164	rs_759615683	3 SubmittersRCV003388995 RCV004526984
NM_000187.4(HGD):c.649G>T (p.Gly217Trp)	SNV Germline	Chr3:120646267	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076305	rs_2472697718	1 SubmittersRCV003388996
NM_000187.4(HGD):c.806A>G (p.His269Arg)	SNV Germline	Chr3:120641662	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560057	rs_756522409	1 SubmittersRCV003388997
NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)	SNV Germline	Chr3:120633260	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354072888	rs_2472652226	1 SubmittersRCV003388998
NM_000187.4(HGD):c.962G>A (p.Arg321Gln)	SNV Germline	Chr3:120638499	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560009	rs_774374625	1 SubmittersRCV003388999
NM_000187.4(HGD):c.791A>G (p.Asn264Ser)	SNV Germline	Chr3:120641677	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354074042	rs_1469714335	1 SubmittersRCV003389000
NM_000187.4(HGD):c.614G>T (p.Gly205Val)	SNV Germline	Chr3:120646302	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076527	rs_754802510	1 SubmittersRCV003389001
NM_000187.4(HGD):c.742A>G (p.Lys248Glu)	SNV Germline	Chr3:120644351	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075064	rs_2472689604	1 SubmittersRCV003389002
NM_000187.4(HGD):c.541G>T (p.Val181Phe)	SNV Germline	Chr3:120646981	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354076912	rs_368256121	1 SubmittersRCV003389003
NM_000187.4(HGD):c.875A>G (p.His292Arg)	SNV Germline	Chr3:120641593	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073857	rs_2472681003	1 SubmittersRCV003389004
NM_000187.4(HGD):c.964T>C (p.Trp322Arg)	SNV Germline	Chr3:120638497	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073460	rs_2472670867	1 SubmittersRCV003389005
NM_000187.4(HGD):c.593G>A (p.Gly198Asp)	SNV Germline	Chr3:120646323	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA81786737	rs_199536408	1 SubmittersRCV003389006
NM_000187.4(HGD):c.800C>T (p.Ala267Val)	SNV Germline	Chr3:120641668	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354074023	rs_2472681649	1 SubmittersRCV003389007
NM_000187.4(HGD):c.647T>C (p.Ile216Thr)	SNV Germline	Chr3:120646269	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560140	rs_767201131	1 SubmittersRCV003389008
NM_000187.4(HGD):c.688C>A (p.Pro230Thr)	SNV Germline	Chr3:120644405	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075391	rs_28942100	1 SubmittersRCV003389009
NM_000187.4(HGD):c.873C>A (p.Asp291Glu)	SNV Germline	Chr3:120641595	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560044	rs_754428438	1 SubmittersRCV003389010
NM_000187.4(HGD):c.990G>C (p.Arg330Ser)	SNV Germline	Chr3:120638471	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073338	rs_120074171	1 SubmittersRCV003389011
NM_000187.4(HGD):c.659G>T (p.Gly220Val)	SNV Germline	Chr3:120644434	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075570	rs_2472690332	1 SubmittersRCV003389012
NM_000187.4(HGD):c.787T>C (p.Phe263Leu)	SNV Germline	Chr3:120641681	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354074054	rs_2472681763	1 SubmittersRCV003389013
NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)	SNV Germline	Chr3:120641653	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073992	rs_2472681502	1 SubmittersRCV003389014
NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)	SNV Germline	Chr3:120633301	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354072976	rs_1398420804	1 SubmittersRCV003389015
NM_000187.4(HGD):c.832A>G (p.Asn278Asp)	SNV Germline	Chr3:120641636	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA2560051	rs_370920635	1 SubmittersRCV003389016
NM_000187.4(HGD):c.679T>C (p.Phe227Leu)	SNV Germline	Chr3:120644414	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354075461	rs_2472690126	1 SubmittersRCV003389017
NM_000187.4(HGD):c.995C>G (p.Pro332Arg)	SNV Germline	Chr3:120638466	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073318	rs_2472670494	1 SubmittersRCV003389018
NM_000187.4(HGD):c.946G>A (p.Val316Ile)	SNV Germline	Chr3:120638515	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073543	rs_199927284	1 SubmittersRCV003389019
NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)	SNV Germline	Chr3:120633328	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073045	rs_2472652738	1 SubmittersRCV003389020
NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)	SNV Germline	Chr3:120633316	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073013	rs_2472652648	1 SubmittersRCV003389021
NM_000187.4(HGD):c.986T>G (p.Phe329Cys)	SNV Germline	Chr3:120638475	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073356	rs_2472670571	1 SubmittersRCV003389022
NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)	SNV Germline	Chr3:120633328	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354073044	rs_2472652738	1 SubmittersRCV003389023
NM_000187.4(HGD):c.410T>C (p.Leu137Pro)	SNV Germline	Chr3:120650798	Pathogenic	Alkaptonuria	No Assertion Criteria Provided	CA354078023	rs_2472716303	1 SubmittersRCV003389025
NM_000187.4(HGD):c.926G>T (p.Gly309Val)	SNV Germline	Chr3:120638535	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354073624	rs_1940858106	1 SubmittersRCV003482188
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)	SNV Germline	Chr3:120633259	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications	CA2559973	rs_764037565	2 SubmittersRCV003501695
NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)	SNV Germline	Chr3:120633204	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354072774	rs_2472651963	1 SubmittersRCV003500089
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)	SNV Germline	Chr3:120644391	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354075286	rs_771518151	1 SubmittersRCV003607764
NM_000187.4(HGD):c.435-1G>C	SNV Germline	Chr3:120647912	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354077491	rs_2472705740	1 SubmittersRCV003608275
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)	SNV Germline	Chr3:120674972	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA354082215	rs_2472801382	2 SubmittersRCV003607042
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)	SNV Germline	Chr3:120670454	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354081201	rs_1291206526	1 SubmittersRCV003860527
NM_000187.4(HGD):c.804G>C (p.Trp268Cys)	SNV Germline	Chr3:120641664	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354074015	rs_2472681607	1 SubmittersRCV003990601
NM_000187.4(HGD):c.342+2T>C	SNV Germline	Chr3:120652590	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354078463	rs_2472724372	1 SubmittersRCV003990870
NM_000187.4(HGD):c.1034T>C (p.Leu345Pro)	SNV Germline	Chr3:120633301	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA354072975	rs_1398420804	1 SubmittersRCV003990954
NM_000187.4(HGD):c.1079G>T (p.Gly360Val)	SNV Germline	Chr3:120633256	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV004800179
NM_000187.4(HGD):c.965G>A (p.Trp322Ter)	SNV Germline	Chr3:120638496	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005034894
NM_000187.4(HGD):c.831C>G (p.Tyr277Ter)	SNV Germline	Chr3:120641637	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005034899
NM_000187.4(HGD):c.689C>G (p.Pro230Arg)	SNV Germline	Chr3:120644404	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005031028
NM_000187.4(HGD):c.549G>A (p.Gln183=)	SNV Germline	Chr3:120646973	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005031034
NM_000187.4(HGD):c.319C>T (p.Gln107Ter)	SNV Germline	Chr3:120652615	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005031042
NM_000187.4(HGD):c.290G>A (p.Trp97Ter)	SNV Germline	Chr3:120652644	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005031043
NM_000187.4(HGD):c.169A>T (p.Lys57Ter)	SNV Germline	Chr3:120674908	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005034906
NM_000187.4(HGD):c.157C>G (p.Arg53Gly)	SNV Germline	Chr3:120674920	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005031047
NM_000187.4(HGD):c.120T>A (p.Tyr40Ter)	SNV Germline	Chr3:120674957	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005034907
NM_000187.4(HGD):c.803G>A (p.Trp268Ter)	SNV Germline	Chr3:120641665	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV005175192

NM_000187.4(HGD):c.688C>T (p.Pro230Ser)

SNV
Germline

Chr3:120644405

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA340042

rs_28942100

7 SubmittersRCV000003315

NM_000187.4(HGD):c.899T>G (p.Val300Gly)

SNV
Germline

Chr3:120638562

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA340043

rs_120074170

6 SubmittersRCV000003316

NM_000187.4(HGD):c.481G>A (p.Gly161Arg)

SNV
Germline

Chr3:120647041

Pathogenic

Alkaptonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340044

rs_28941783

11 SubmittersRCV000003318 RCV001725928

NM_000187.4(HGD):c.16-1G>A

SNV
Germline

Chr3:120675864

Pathogenic

Alkaptonuria
Condition: not provided
HGD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340046

rs_397515347

11 SubmittersRCV000003320 RCV004597723 RCV004751195

NM_000187.4(HGD):c.1112A>G (p.His371Arg)

SNV
Germline

Chr3:120633223

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277917

rs_120074172

4 SubmittersRCV000003322

NM_000187.4(HGD):c.1102A>G (p.Met368Val)

SNV
Germline

Chr3:120633233

Pathogenic

Alkaptonuria
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA340048

rs_120074173

13 SubmittersRCV000003323 RCV002279945 RCV004584308

NM_000187.4(HGD):c.808G>A (p.Gly270Arg)

SNV
Germline

Chr3:120641660

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA340049

rs_120074174

8 SubmittersRCV000003325

NM_000187.4(HGD):c.140C>T (p.Ser47Leu)

SNV
Germline

Chr3:120674937

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA344903

rs_369517993

2 SubmittersRCV003387491

NM_000187.4(HGD):c.342+1G>A

SNV
Germline

Chr3:120652591

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA344905

rs_397515518

5 SubmittersRCV000055781

NM_000187.4(HGD):c.360T>G (p.Cys120Trp)

SNV
Germline

Chr3:120650848

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA344906

rs_149165166

5 SubmittersRCV000055782

NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)

SNV
Germline

Chr3:120628382

Conflicting classifications of pathogenicity

Alkaptonuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277984

rs_143370662

4 SubmittersRCV000169039 RCV003225036

NM_000187.4(HGD):c.674G>A (p.Arg225His)

SNV
Germline

Chr3:120644419

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277989

rs_562853291

5 SubmittersRCV000169601

NM_000187.4(HGD):c.365C>T (p.Ala122Val)

SNV
Germline

Chr3:120650843

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277986

rs_544956641

7 SubmittersRCV000169217

NM_000187.4(HGD):c.342+1G>T

SNV
Germline

Chr3:120652591

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277988

rs_397515518

4 SubmittersRCV000169542

NM_000187.4(HGD):c.11T>A (p.Leu4Ter)

SNV
Germline

Chr3:120682101

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277982

rs_786204422

4 SubmittersRCV000169012

NM_000187.4(HGD):c.550-14G>C

SNV
Germline

Chr3:120646380

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560155

rs_769000073

2 SubmittersRCV000404363

NM_000187.4(HGD):c.141G>A (p.Ser47=)

SNV
Germline

Chr3:120674936

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560338

rs_541268108

2 SubmittersRCV000260518

NM_000187.4(HGD):c.1176C>T (p.Ala392=)

SNV
Germline

Chr3:120633159

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2559957

rs_368805723

2 SubmittersRCV000376240

NM_000187.4(HGD):c.880-4A>G

SNV
Germline

Chr3:120638585

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560020

rs_781667761

2 SubmittersRCV000282585

NM_000187.4(HGD):c.307C>A (p.Pro103Thr)

SNV
Germline

Chr3:120652627

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560267

rs_559502955

3 SubmittersRCV000359600

NM_000187.4(HGD):c.1206A>G (p.Ser402=)

SNV
Germline

Chr3:120628512

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2559929

rs_140500816

2 SubmittersRCV000271274

NM_000187.4(HGD):c.765T>C (p.Ala255=)

SNV
Germline

Chr3:120644328

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560081

rs_747764475

2 SubmittersRCV000387482

NM_000187.4(HGD):c.474G>A (p.Pro158=)

SNV
Germline

Chr3:120647048

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560178

rs_2293734

2 SubmittersRCV000344698

NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)

SNV
Germline

Chr3:120628517

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2559930

rs_767159114

5 SubmittersRCV000409498

NM_000187.4(HGD):c.1188+1G>T

SNV
Germline

Chr3:120633146

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA2559950

rs_760206323

3 SubmittersRCV000409868

NM_000187.4(HGD):c.649+2T>C

SNV
Germline

Chr3:120646265

Pathogenic/Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA16040890

rs_1057516307

2 SubmittersRCV000411569

NM_000187.4(HGD):c.179G>A (p.Trp60Ter)

SNV
Germline

Chr3:120670530

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA16040896

rs_1057516467

3 SubmittersRCV000409762

NM_000187.4(HGD):c.177-1G>A

SNV
Unknown

Chr3:120670533

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA16040897

rs_1057517370

1 SubmittersRCV000411822

NM_000187.4(HGD):c.158G>A (p.Arg53Gln)

SNV
Germline

Chr3:120674919

Pathogenic/Likely pathogenic

Alkaptonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2560335

rs_200808744

4 SubmittersRCV000412076 RCV001726153

NM_000187.4(HGD):c.15+1G>A

SNV
Germline

Chr3:120682096

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16040900

rs_552207335

3 SubmittersRCV000410834

NM_000187.4(HGD):c.3G>C (p.Met1Ile)

SNV
Germline

Chr3:120682109

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA16040901

rs_1057516355

2 SubmittersRCV000412049

NM_000187.4(HGD):c.189G>T (p.Arg63Ser)

SNV
Germline

Chr3:120670520

Pathogenic

Alkaptonuria
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA354081558

rs_1390061303

3 SubmittersRCV000503877 RCV004584392

NM_000187.4(HGD):c.473C>T (p.Pro158Leu)

SNV
Germline

Chr3:120647049

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560180

rs_375396766

4 SubmittersRCV000668985

NM_000187.4(HGD):c.559C>G (p.Arg187Gly)

SNV
Germline

Chr3:120646357

Conflicting classifications of pathogenicity

Alkaptonuria

No Assertion Criteria Provided

CA354076811

rs_756255206

2 SubmittersRCV000671938

NM_000187.4(HGD):c.347T>C (p.Leu116Pro)

SNV
Germline

Chr3:120650861

Pathogenic/Likely pathogenic

Alkaptonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2560232

rs_569846003

7 SubmittersRCV000670576 RCV005427236

NM_000187.4(HGD):c.1120G>C (p.Asp374His)

SNV
Germline

Chr3:120633215

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA81777915

rs_981454067

4 SubmittersRCV000664925

NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)

SNV
Germline

Chr3:120633254

Conflicting classifications of pathogenicity

Alkaptonuria

No Assertion Criteria Provided

CA354072879

rs_765219004

2 SubmittersRCV000665152

NM_000187.4(HGD):c.879+1G>A

SNV
Unknown

Chr3:120641588

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073848

rs_1553716979

1 SubmittersRCV000672087

NM_000187.4(HGD):c.455G>C (p.Gly152Ala)

SNV
Germline

Chr3:120647891

Conflicting classifications of pathogenicity

Alkaptonuria

No Assertion Criteria Provided

CA354077394

rs_1553717936

2 SubmittersRCV000664709

NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)

SNV
Germline

Chr3:120633257

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2559972

rs_368717991

3 SubmittersRCV000793180

NM_000187.4(HGD):c.919C>T (p.Arg307Cys)

SNV
Germline

Chr3:120638542

Conflicting classifications of pathogenicity

Alkaptonuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2560016

rs_143556739

4 SubmittersRCV000879173 RCV004711364

NM_000187.4(HGD):c.221A>T (p.Glu74Val)

SNV
Germline

Chr3:120670488

Conflicting classifications of pathogenicity

Alkaptonuria
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2560306

rs_141965690

5 SubmittersRCV000882319 RCV003225134

NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)

SNV
Germline

Chr3:120633221

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354072811

rs_1940645842

3 SubmittersRCV001067792

NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)

SNV
Germline

Chr3:120633296

Pathogenic/Likely pathogenic

Alkaptonuria
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA81778012

rs_975005146

4 SubmittersRCV001054603 RCV004792682

NM_000187.4(HGD):c.680T>C (p.Phe227Ser)

SNV
Germline

Chr3:120644413

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354075457

rs_1941093400

3 SubmittersRCV001037383

NM_000187.4(HGD):c.291G>A (p.Trp97Ter)

SNV
Germline

Chr3:120652643

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560269

rs_766714128

3 SubmittersRCV001061073

NM_000187.4(HGD):c.753C>T (p.Gly251=)

SNV
Germline

Chr3:120644340

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA435227677

rs_1357020990

2 SubmittersRCV001075890

NM_000187.4(HGD):c.1266C>T (p.Asn422=)

SNV
Germline

Chr3:120628452

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA435224086

rs_1417213536

2 SubmittersRCV001146326

NM_000187.4(HGD):c.177-5T>C

SNV
Germline

Chr3:120670537

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2560310

rs_768308376

2 SubmittersRCV001146463

NM_000187.4(HGD):c.665C>A (p.Ala222Asp)

SNV
Germline

Chr3:120644428

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354075549

rs_1576294110

2 SubmittersRCV001194660

NM_000187.4(HGD):c.536T>G (p.Ile179Ser)

SNV
Germline

Chr3:120646986

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA81787043

rs_1031569954

2 SubmittersRCV001194659

NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)

SNV
Germline

Chr3:120650795

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354078016

rs_1941316527

1 SubmittersRCV001194658

NM_000187.4(HGD):c.131T>C (p.Leu44Pro)

SNV
Germline

Chr3:120674946

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354082067

rs_1708095030

2 SubmittersRCV001194657

NM_000187.4(HGD):c.127C>G (p.Gln43Glu)

SNV
Germline

Chr3:120674950

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354082091

rs_1243059404

2 SubmittersRCV001194656

NM_000187.4(HGD):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:120682111

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354084277

rs_1708240463

2 SubmittersRCV001194655

NM_000187.4(HGD):c.502G>A (p.Glu168Lys)

SNV
Germline

Chr3:120647020

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560173

rs_375283568

3 SubmittersRCV001215109

NM_000187.4(HGD):c.157C>T (p.Arg53Trp)

SNV
Germline

Chr3:120674920

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560336

rs_759435977

5 SubmittersRCV001242145

NM_000187.4(HGD):c.469+2T>C

SNV
Germline

Chr3:120647875

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560198

rs_745333667

3 SubmittersRCV001232918

NM_000187.4(HGD):c.469+1G>C

SNV
Germline

Chr3:120647876

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354077326

rs_1260545974

3 SubmittersRCV001242049

NM_000187.4(HGD):c.367G>A (p.Gly123Arg)

SNV
Germline

Chr3:120650841

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560227

rs_564979861

3 SubmittersRCV001376082

NM_000187.4(HGD):c.566G>T (p.Ser189Ile)

SNV
Germline

Chr3:120646350

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354076785

rs_2107510544

2 SubmittersRCV001376105

NM_000187.4(HGD):c.1188+1G>A

SNV
Germline

Chr3:120633146

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA2559951

rs_760206323

2 SubmittersRCV001386852

NM_000187.4(HGD):c.1006+2T>A

SNV
Germline

Chr3:120638453

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354073259

rs_1320184173

2 SubmittersRCV001381505

NM_000187.4(HGD):c.583G>T (p.Glu195Ter)

SNV
Germline

Chr3:120646333

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354076711

rs_1184695718

2 SubmittersRCV001389681

NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)

SNV
Germline

Chr3:120670523

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354081570

rs_2107548853

1 SubmittersRCV001389370

NM_000187.4(HGD):c.125A>C (p.Glu42Ala)

SNV
Germline

Chr3:120674952

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560344

rs_373921680

3 SubmittersRCV001384280

NM_000187.4(HGD):c.343G>C (p.Gly115Arg)

SNV
Germline

Chr3:120650865

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560233

rs_755734596

4 SubmittersRCV001542260

NM_000187.4(HGD):c.16-2063A>C

SNV
Unknown

Chr3:120677926

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA545611477

rs_1168687230

1 SubmittersRCV001799115

NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)

SNV
Germline

Chr3:120633251

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354072876

rs_2107489383

2 SubmittersRCV001799116

NM_000187.4(HGD):c.502G>T (p.Glu168Ter)

SNV
Germline

Chr3:120647020

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354077072

rs_375283568

2 SubmittersRCV002021839

NM_000187.4(HGD):c.821C>T (p.Pro274Leu)

SNV
Germline

Chr3:120641647

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354073978

rs_1397264922

2 SubmittersRCV001999116

NM_000187.4(HGD):c.673C>T (p.Arg225Cys)

SNV
Germline

Chr3:120644420

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560100

rs_756789146

3 SubmittersRCV002023302

NM_000187.4(HGD):c.11T>C (p.Leu4Ser)

SNV
Germline

Chr3:120682101

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354084238

rs_786204422

3 SubmittersRCV001946825

NM_000187.4(HGD):c.283-1G>A

SNV
Germline

Chr3:120652652

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354078827

rs_2107522179

1 SubmittersRCV002003374

NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)

SNV
Germline

Chr3:120628449

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354072214

rs_1186509068

1 SubmittersRCV001956399

NM_000187.4(HGD):c.368G>A (p.Gly123Glu)

SNV
Germline

Chr3:120650840

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA81789630

rs_374473331

2 SubmittersRCV002026291

NM_000187.4(HGD):c.1007-2A>T

SNV
Germline

Chr3:120633330

Pathogenic

Alkaptonuria
HGD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA354073049

rs_1559781702

4 SubmittersRCV001949356 RCV003401973

NM_000187.4(HGD):c.359G>T (p.Cys120Phe)

SNV
Germline

Chr3:120650849

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560230

rs_752153829

3 SubmittersRCV001884025

NM_000187.4(HGD):c.775-1G>A

SNV
Germline

Chr3:120641694

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354074082

rs_2107502859

1 SubmittersRCV002010401

NM_000187.4(HGD):c.532G>T (p.Glu178Ter)

SNV
Germline

Chr3:120646990

Pathogenic/Likely pathogenic

Condition: not provided
HGD-related disorder
Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354076949

rs_1941184654

5 SubmittersRCV002254498 RCV003943328 RCV003989139

NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)

SNV
Unknown

Chr3:120644346

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354075020

rs_2472689579

1 SubmittersRCV002306462

NM_000187.4(HGD):c.662T>A (p.Leu221Ter)

SNV
Unknown

Chr3:120644431

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354075561

rs_2472690316

1 SubmittersRCV002306482

NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)

SNV
Unknown

Chr3:120670523

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354081571

rs_2107548853

1 SubmittersRCV002310475

NM_000187.4(HGD):c.650-13T>G

SNV
Germline

Chr3:120644456

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA2577865167

rs_2472690649

2 SubmittersRCV003068918

NM_000187.4(HGD):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr3:120638500

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354073472

rs_1402437099

2 SubmittersRCV002651719

NM_000187.4(HGD):c.898G>C (p.Val300Leu)

SNV
Germline

Chr3:120638563

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354073736

rs_886905654

1 SubmittersRCV002666755

NM_000187.4(HGD):c.699G>A (p.Trp233Ter)

SNV
Germline

Chr3:120644394

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354075324

rs_2472689944

1 SubmittersRCV002770588

NM_000187.4(HGD):c.177-1G>T

SNV
Germline

Chr3:120670533

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354081610

rs_1057517370

1 SubmittersRCV002876271

NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)

SNV
Germline

Chr3:120633238

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2559969

rs_759101002

2 SubmittersRCV002913642

NM_000187.4(HGD):c.1188+2T>A

SNV
Germline

Chr3:120633145

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354072647

rs_2472651728

1 SubmittersRCV002953408

NM_000187.4(HGD):c.482G>A (p.Gly161Glu)

SNV
Germline

Chr3:120647040

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354077159

rs_1941187762

1 SubmittersRCV003016938

NM_000187.4(HGD):c.820C>A (p.Pro274Thr)

SNV
Germline

Chr3:120641648

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA81783975

rs_1056909521

1 SubmittersRCV003028652

NM_000187.4(HGD):c.880-2A>G

SNV
Germline

Chr3:120638583

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354073823

rs_2472671527

1 SubmittersRCV003146013

NM_000187.4(HGD):c.342+3A>C

SNV
Germline

Chr3:120652589

Conflicting classifications of pathogenicity

not specified
Alkaptonuria

Criteria Provided
Conflicting Classifications

CA545609670

rs_1182670238

3 SubmittersRCV003230892 RCV003337424

NM_000187.4(HGD):c.774+1G>T

SNV
Germline

Chr3:120644318

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354074763

rs_2472689364

1 SubmittersRCV003336654

NM_000187.4(HGD):c.87+1G>A

SNV
Germline

Chr3:120675791

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354082523

rs_2472804506

4 SubmittersRCV003336655

NM_000187.4(HGD):c.650-56G>A

SNV
Germline

Chr3:120644499

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA897955913

rs_1377948705

1 SubmittersRCV003336663

NM_000187.4(HGD):c.650-17G>A

SNV
Germline

Chr3:120644460

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA897955893

rs_1309894047

1 SubmittersRCV003336672

NM_000187.4(HGD):c.180G>A (p.Trp60Ter)

SNV
Germline

Chr3:120670529

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081601

rs_2472786583

1 SubmittersRCV003336675

NM_000187.4(HGD):c.433A>T (p.Arg145Ter)

SNV
Germline

Chr3:120650775

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077969

rs_2472716150

1 SubmittersRCV003336676

NM_000187.4(HGD):c.860C>A (p.Ser287Ter)

SNV
Germline

Chr3:120641608

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073890

rs_2472681060

1 SubmittersRCV003336677

NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr3:120633275

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2559976

rs_780333531

1 SubmittersRCV003336678

NM_000187.4(HGD):c.649+39T>G

SNV
Germline

Chr3:120646228

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2582342879

rs_1274321592

1 SubmittersRCV003336679

NM_000187.4(HGD):c.649+1G>A

SNV
Germline

Chr3:120646266

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076301

rs_2472697711

1 SubmittersRCV003336680

NM_000187.4(HGD):c.470-1G>A

SNV
Germline

Chr3:120647053

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077242

rs_2472702255

1 SubmittersRCV003336681

NM_000187.4(HGD):c.1188+8T>A

SNV
Germline

Chr3:120633139

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA1397090683

rs_1940642048

1 SubmittersRCV003336682

NM_000187.4(HGD):c.550-2A>G

SNV
Germline

Chr3:120646368

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076857

rs_2472698754

1 SubmittersRCV003336683

NM_000187.4(HGD):c.469+6T>C

SNV
Germline

Chr3:120647871

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2582342882

rs_2472705278

1 SubmittersRCV003336684

NM_000187.4(HGD):c.549+1G>A

SNV
Germline

Chr3:120646972

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076887

rs_1373462009

1 SubmittersRCV003337701

NM_000187.4(HGD):c.189G>A (p.Arg63=)

SNV
Germline

Chr3:120670520

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA435229807

rs_1390061303

1 SubmittersRCV003337702

NM_000187.4(HGD):c.549+1G>T

SNV
Germline

Chr3:120646972

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354076883

rs_1373462009

3 SubmittersRCV003337703

NM_000187.4(HGD):c.775-16T>A

SNV
Germline

Chr3:120641709

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA81784084

rs_995182027

1 SubmittersRCV003337704

NM_000187.4(HGD):c.469+5G>A

SNV
Germline

Chr3:120647872

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2577865317

rs_2472705290

1 SubmittersRCV003337705

NM_000187.4(HGD):c.177-2A>G

SNV
Germline

Chr3:120670534

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560309

rs_762524252

1 SubmittersRCV003337706

NM_000187.4(HGD):c.550-2A>C

SNV
Germline

Chr3:120646368

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076859

rs_2472698754

1 SubmittersRCV003337707

NM_000187.4(HGD):c.1006+6T>C

SNV
Germline

Chr3:120638449

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA1397093063

rs_1576289072

1 SubmittersRCV003337708

NM_000187.4(HGD):c.15G>A (p.Lys5=)

SNV
Germline

Chr3:120682097

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA435230120

rs_1708239888

1 SubmittersRCV003337709

NM_000187.4(HGD):c.171G>C (p.Lys57Asn)

SNV
Germline

Chr3:120674906

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081843

rs_771669017

1 SubmittersRCV003387456

NM_000187.4(HGD):c.174A>T (p.Arg58Ser)

SNV
Germline

Chr3:120674903

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081819

rs_2472800703

1 SubmittersRCV003387457

NM_000187.4(HGD):c.178T>G (p.Trp60Gly)

SNV
Germline

Chr3:120670531

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081607

rs_775113388

1 SubmittersRCV003387458

NM_000187.4(HGD):c.182T>C (p.Leu61Pro)

SNV
Germline

Chr3:120670527

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081589

rs_1324654414

1 SubmittersRCV003387459

NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)

SNV
Germline

Chr3:120670525

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081584

rs_2472786530

1 SubmittersRCV003387460

NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)

SNV
Germline

Chr3:120670524

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081580

rs_1174584850

1 SubmittersRCV003387461

NM_000187.4(HGD):c.217T>C (p.Phe73Leu)

SNV
Germline

Chr3:120670492

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081423

rs_2472786163

1 SubmittersRCV003387462

NM_000187.4(HGD):c.274C>A (p.Pro92Thr)

SNV
Germline

Chr3:120670435

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354081048

rs_2472785351

1 SubmittersRCV003387463

NM_000187.4(HGD):c.289T>C (p.Trp97Arg)

SNV
Germline

Chr3:120652645

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078788

rs_2472725122

1 SubmittersRCV003387464

NM_000187.4(HGD):c.289T>G (p.Trp97Gly)

SNV
Germline

Chr3:120652645

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354078786

rs_2472725122

2 SubmittersRCV003387465

NM_000187.4(HGD):c.52G>A (p.Asp18Asn)

SNV
Germline

Chr3:120675827

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354082867

rs_2472804843

1 SubmittersRCV003387466

NM_000187.4(HGD):c.291G>C (p.Trp97Cys)

SNV
Germline

Chr3:120652643

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078777

rs_766714128

1 SubmittersRCV003387467

NM_000187.4(HGD):c.299T>C (p.Phe100Ser)

SNV
Germline

Chr3:120652635

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078730

rs_2472725001

1 SubmittersRCV003387468

NM_000187.4(HGD):c.334T>G (p.Phe112Val)

SNV
Germline

Chr3:120652600

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354078514

rs_2472724557

2 SubmittersRCV003387469

NM_000187.4(HGD):c.335T>C (p.Phe112Ser)

SNV
Germline

Chr3:120652599

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078509

rs_2472724534

1 SubmittersRCV003387470

NM_000187.4(HGD):c.362G>A (p.Gly121Glu)

SNV
Germline

Chr3:120650846

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078122

rs_2472716929

1 SubmittersRCV003387471

NM_000187.4(HGD):c.365C>A (p.Ala122Asp)

SNV
Germline

Chr3:120650843

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078118

rs_544956641

1 SubmittersRCV003387472

NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)

SNV
Germline

Chr3:120675827

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354082863

rs_2472804843

1 SubmittersRCV003387473

NM_000187.4(HGD):c.368G>C (p.Gly123Ala)

SNV
Germline

Chr3:120650840

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA81789629

rs_374473331

2 SubmittersRCV003387474

NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)

SNV
Germline

Chr3:120650801

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078031

rs_2472716381

1 SubmittersRCV003387475

NM_000187.4(HGD):c.440T>C (p.Phe147Ser)

SNV
Germline

Chr3:120647906

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077467

rs_2472705677

1 SubmittersRCV003387476

NM_000187.4(HGD):c.449C>T (p.Ser150Leu)

SNV
Germline

Chr3:120647897

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA81787664

rs_541367417

1 SubmittersRCV003387477

NM_000187.4(HGD):c.457G>A (p.Asp153Asn)

SNV
Germline

Chr3:120647889

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077391

rs_2472705466

1 SubmittersRCV003387478

NM_000187.4(HGD):c.469G>T (p.Val157Phe)

SNV
Germline

Chr3:120647877

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077329

rs_1941214001

1 SubmittersRCV003387479

NM_000187.4(HGD):c.458A>G (p.Asp153Gly)

SNV
Germline

Chr3:120647888

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560200

rs_775274569

1 SubmittersRCV003387480

NM_000187.4(HGD):c.473C>G (p.Pro158Arg)

SNV
Germline

Chr3:120647049

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077220

rs_375396766

1 SubmittersRCV003387481

NM_000187.4(HGD):c.504G>C (p.Glu168Asp)

SNV
Germline

Chr3:120647018

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560172

rs_780173554

3 SubmittersRCV003387482

NM_000187.4(HGD):c.507T>C (p.Phe169=)

SNV
Germline

Chr3:120647015

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA435228003

rs_756134838

1 SubmittersRCV003387483

NM_000187.4(HGD):c.54T>A (p.Asp18Glu)

SNV
Germline

Chr3:120675825

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560382

rs_765687351

1 SubmittersRCV003387484

NM_000187.4(HGD):c.500C>T (p.Thr167Ile)

SNV
Germline

Chr3:120647022

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077082

rs_1232923788

1 SubmittersRCV003387485

NM_000187.4(HGD):c.74T>C (p.Leu25Pro)

SNV
Germline

Chr3:120675805

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354082647

rs_2472804606

1 SubmittersRCV003387486

NM_000187.4(HGD):c.98A>G (p.Gln33Arg)

SNV
Germline

Chr3:120674979

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354082246

rs_2472801442

1 SubmittersRCV003387487

NM_000187.4(HGD):c.454G>A (p.Gly152Arg)

SNV
Germline

Chr3:120647892

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077401

rs_2472705545

1 SubmittersRCV003387488

NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)

SNV
Germline

Chr3:120674958

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354082126

rs_747899770

1 SubmittersRCV003387489

NM_000187.4(HGD):c.130C>T (p.Leu44Phe)

SNV
Germline

Chr3:120674947

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA81810313

rs_1049246177

1 SubmittersRCV003387490

NM_000187.4(HGD):c.508G>A (p.Gly170Ser)

SNV
Germline

Chr3:120647014

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077044

rs_2472701905

1 SubmittersRCV003388974

NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)

SNV
Germline

Chr3:120633286

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354072944

rs_1377735119

1 SubmittersRCV003388975

NM_000187.4(HGD):c.533A>G (p.Glu178Gly)

SNV
Germline

Chr3:120646989

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076947

rs_2472701576

1 SubmittersRCV003388976

NM_000187.4(HGD):c.656A>G (p.Asn219Ser)

SNV
Germline

Chr3:120644437

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075591

rs_2472690374

1 SubmittersRCV003388978

NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)

SNV
Germline

Chr3:120633256

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354072882

rs_1172885188

1 SubmittersRCV003388980

NM_000187.4(HGD):c.557T>A (p.Met186Lys)

SNV
Germline

Chr3:120646359

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354076823

rs_1941163113

2 SubmittersRCV003388981

NM_000187.4(HGD):c.509G>C (p.Gly170Ala)

SNV
Germline

Chr3:120647013

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077036

rs_2107511857

1 SubmittersRCV003388982

NM_000187.4(HGD):c.614G>A (p.Gly205Asp)

SNV
Germline

Chr3:120646302

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560145

rs_754802510

1 SubmittersRCV003388983

NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)

SNV
Germline

Chr3:120633278

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354072927

rs_1274142542

1 SubmittersRCV003388984

NM_000187.4(HGD):c.515T>C (p.Met172Thr)

SNV
Germline

Chr3:120647007

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077016

rs_2472701826

1 SubmittersRCV003388985

NM_000187.4(HGD):c.674G>C (p.Arg225Pro)

SNV
Germline

Chr3:120644419

Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2560099

rs_562853291

3 SubmittersRCV003388986

NM_000187.4(HGD):c.733G>T (p.Val245Phe)

SNV
Germline

Chr3:120644360

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075120

rs_2472689679

1 SubmittersRCV003388987

NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)

SNV
Germline

Chr3:120633326

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073039

rs_2472652730

1 SubmittersRCV003388988

NM_000187.4(HGD):c.513G>T (p.Lys171Asn)

SNV
Germline

Chr3:120647009

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354077024

rs_2472701853

1 SubmittersRCV003388989

NM_000187.4(HGD):c.674G>T (p.Arg225Leu)

SNV
Germline

Chr3:120644419

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075492

rs_562853291

1 SubmittersRCV003388990

NM_000187.4(HGD):c.773A>C (p.Gln258Pro)

SNV
Germline

Chr3:120644320

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560078

rs_759843592

1 SubmittersRCV003388991

NM_000187.4(HGD):c.553G>A (p.Gly185Arg)

SNV
Germline

Chr3:120646363

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076838

rs_2472698721

1 SubmittersRCV003388992

NM_000187.4(HGD):c.914C>T (p.Ser305Phe)

SNV
Germline

Chr3:120638547

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073667

rs_2472671164

1 SubmittersRCV003388993

NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)

SNV
Germline

Chr3:120633250

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354072873

rs_2472652160

1 SubmittersRCV003388994

NM_000187.4(HGD):c.549G>T (p.Gln183His)

SNV
Germline

Chr3:120646973

Conflicting classifications of pathogenicity

Alkaptonuria
not specified

Criteria Provided
Conflicting Classifications

CA2560164

rs_759615683

3 SubmittersRCV003388995 RCV004526984

NM_000187.4(HGD):c.649G>T (p.Gly217Trp)

SNV
Germline

Chr3:120646267

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076305

rs_2472697718

1 SubmittersRCV003388996

NM_000187.4(HGD):c.806A>G (p.His269Arg)

SNV
Germline

Chr3:120641662

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560057

rs_756522409

1 SubmittersRCV003388997

NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)

SNV
Germline

Chr3:120633260

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354072888

rs_2472652226

1 SubmittersRCV003388998

NM_000187.4(HGD):c.962G>A (p.Arg321Gln)

SNV
Germline

Chr3:120638499

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560009

rs_774374625

1 SubmittersRCV003388999

NM_000187.4(HGD):c.791A>G (p.Asn264Ser)

SNV
Germline

Chr3:120641677

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354074042

rs_1469714335

1 SubmittersRCV003389000

NM_000187.4(HGD):c.614G>T (p.Gly205Val)

SNV
Germline

Chr3:120646302

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076527

rs_754802510

1 SubmittersRCV003389001

NM_000187.4(HGD):c.742A>G (p.Lys248Glu)

SNV
Germline

Chr3:120644351

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075064

rs_2472689604

1 SubmittersRCV003389002

NM_000187.4(HGD):c.541G>T (p.Val181Phe)

SNV
Germline

Chr3:120646981

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354076912

rs_368256121

1 SubmittersRCV003389003

NM_000187.4(HGD):c.875A>G (p.His292Arg)

SNV
Germline

Chr3:120641593

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073857

rs_2472681003

1 SubmittersRCV003389004

NM_000187.4(HGD):c.964T>C (p.Trp322Arg)

SNV
Germline

Chr3:120638497

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073460

rs_2472670867

1 SubmittersRCV003389005

NM_000187.4(HGD):c.593G>A (p.Gly198Asp)

SNV
Germline

Chr3:120646323

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA81786737

rs_199536408

1 SubmittersRCV003389006

NM_000187.4(HGD):c.800C>T (p.Ala267Val)

SNV
Germline

Chr3:120641668

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354074023

rs_2472681649

1 SubmittersRCV003389007

NM_000187.4(HGD):c.647T>C (p.Ile216Thr)

SNV
Germline

Chr3:120646269

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560140

rs_767201131

1 SubmittersRCV003389008

NM_000187.4(HGD):c.688C>A (p.Pro230Thr)

SNV
Germline

Chr3:120644405

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075391

rs_28942100

1 SubmittersRCV003389009

NM_000187.4(HGD):c.873C>A (p.Asp291Glu)

SNV
Germline

Chr3:120641595

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560044

rs_754428438

1 SubmittersRCV003389010

NM_000187.4(HGD):c.990G>C (p.Arg330Ser)

SNV
Germline

Chr3:120638471

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073338

rs_120074171

1 SubmittersRCV003389011

NM_000187.4(HGD):c.659G>T (p.Gly220Val)

SNV
Germline

Chr3:120644434

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075570

rs_2472690332

1 SubmittersRCV003389012

NM_000187.4(HGD):c.787T>C (p.Phe263Leu)

SNV
Germline

Chr3:120641681

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354074054

rs_2472681763

1 SubmittersRCV003389013

NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)

SNV
Germline

Chr3:120641653

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073992

rs_2472681502

1 SubmittersRCV003389014

NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)

SNV
Germline

Chr3:120633301

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354072976

rs_1398420804

1 SubmittersRCV003389015

NM_000187.4(HGD):c.832A>G (p.Asn278Asp)

SNV
Germline

Chr3:120641636

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA2560051

rs_370920635

1 SubmittersRCV003389016

NM_000187.4(HGD):c.679T>C (p.Phe227Leu)

SNV
Germline

Chr3:120644414

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354075461

rs_2472690126

1 SubmittersRCV003389017

NM_000187.4(HGD):c.995C>G (p.Pro332Arg)

SNV
Germline

Chr3:120638466

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073318

rs_2472670494

1 SubmittersRCV003389018

NM_000187.4(HGD):c.946G>A (p.Val316Ile)

SNV
Germline

Chr3:120638515

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073543

rs_199927284

1 SubmittersRCV003389019

NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)

SNV
Germline

Chr3:120633328

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073045

rs_2472652738

1 SubmittersRCV003389020

NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)

SNV
Germline

Chr3:120633316

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073013

rs_2472652648

1 SubmittersRCV003389021

NM_000187.4(HGD):c.986T>G (p.Phe329Cys)

SNV
Germline

Chr3:120638475

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073356

rs_2472670571

1 SubmittersRCV003389022

NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)

SNV
Germline

Chr3:120633328

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354073044

rs_2472652738

1 SubmittersRCV003389023

NM_000187.4(HGD):c.410T>C (p.Leu137Pro)

SNV
Germline

Chr3:120650798

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

CA354078023

rs_2472716303

1 SubmittersRCV003389025

NM_000187.4(HGD):c.926G>T (p.Gly309Val)

SNV
Germline

Chr3:120638535

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354073624

rs_1940858106

1 SubmittersRCV003482188

NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)

SNV
Germline

Chr3:120633259

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

CA2559973

rs_764037565

2 SubmittersRCV003501695

NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)

SNV
Germline

Chr3:120633204

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354072774

rs_2472651963

1 SubmittersRCV003500089

NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)

SNV
Germline

Chr3:120644391

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354075286

rs_771518151

1 SubmittersRCV003607764

NM_000187.4(HGD):c.435-1G>C

SNV
Germline

Chr3:120647912

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354077491

rs_2472705740

1 SubmittersRCV003608275

NM_000187.4(HGD):c.105C>A (p.Cys35Ter)

SNV
Germline

Chr3:120674972

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA354082215

rs_2472801382

2 SubmittersRCV003607042

NM_000187.4(HGD):c.255G>A (p.Trp85Ter)

SNV
Germline

Chr3:120670454

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354081201

rs_1291206526

1 SubmittersRCV003860527

NM_000187.4(HGD):c.804G>C (p.Trp268Cys)

SNV
Germline

Chr3:120641664

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354074015

rs_2472681607

1 SubmittersRCV003990601

NM_000187.4(HGD):c.342+2T>C

SNV
Germline

Chr3:120652590

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354078463

rs_2472724372

1 SubmittersRCV003990870

NM_000187.4(HGD):c.1034T>C (p.Leu345Pro)

SNV
Germline

Chr3:120633301

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA354072975

rs_1398420804

1 SubmittersRCV003990954

NM_000187.4(HGD):c.1079G>T (p.Gly360Val)

SNV
Germline

Chr3:120633256

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV004800179

NM_000187.4(HGD):c.965G>A (p.Trp322Ter)

SNV
Germline

Chr3:120638496

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005034894

NM_000187.4(HGD):c.831C>G (p.Tyr277Ter)

SNV
Germline

Chr3:120641637

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005034899

NM_000187.4(HGD):c.689C>G (p.Pro230Arg)

SNV
Germline

Chr3:120644404

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005031028

NM_000187.4(HGD):c.549G>A (p.Gln183=)

SNV
Germline

Chr3:120646973

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005031034

NM_000187.4(HGD):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr3:120652615

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005031042

NM_000187.4(HGD):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr3:120652644

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005031043

NM_000187.4(HGD):c.169A>T (p.Lys57Ter)

SNV
Germline

Chr3:120674908

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005034906

NM_000187.4(HGD):c.157C>G (p.Arg53Gly)

SNV
Germline

Chr3:120674920

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005031047

NM_000187.4(HGD):c.120T>A (p.Tyr40Ter)

SNV
Germline

Chr3:120674957

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005034907

NM_000187.4(HGD):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr3:120641665

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV005175192