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/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA340043	rs_120074170	5 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	10 SubmittersRCV000003318 RCV001725928
NM_000187.4(HGD):c.16-1G>A	SNV Germline	Chr3:120675864	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA340046	rs_397515347	8 SubmittersRCV000003320
NM_000187.4(HGD):c.1112A>G (p.His371Arg)	SNV Germline	Chr3:120633223	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA277917	rs_120074172	3 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	12 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	7 SubmittersRCV000003325
NM_000187.4(HGD):c.140C>T (p.Ser47Leu)	SNV Germline	Chr3:120674937	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_369517993	2 SubmittersRCV003387491
NM_000187.4(HGD):c.342+1G>A	SNV Germline	Chr3:120652591	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA344905	rs_397515518	3 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	3 SubmittersRCV000169039 RCV003225036
NM_000187.4(HGD):c.674G>A (p.Arg225His)	SNV Germline	Chr3:120644419	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA277989	rs_562853291	4 SubmittersRCV000169601
NM_000187.4(HGD):c.365C>T (p.Ala122Val)	SNV Germline	Chr3:120650843	Pathogenic/Likely 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/Likely 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	3 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	2 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	3 SubmittersRCV000409498
NM_000187.4(HGD):c.1188+1G>T	SNV Germline	Chr3:120633146	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA2559950	rs_760206323	3 SubmittersRCV000409868
NM_000187.4(HGD):c.649+2T>C	SNV Germline	Chr3:120646265	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	CA16040890	rs_1057516307	2 SubmittersRCV000411569
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)	SNV Germline	Chr3:120670530	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	CA16040896	rs_1057516467	3 SubmittersRCV000409762
NM_000187.4(HGD):c.177-1G>A	SNV Unknown	Chr3:120670533	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter	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	2 SubmittersRCV000410834
NM_000187.4(HGD):c.3G>C (p.Met1Ile)	SNV Germline	Chr3:120682109	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts	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	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications		rs_375396766	4 SubmittersRCV000668985
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)	SNV Germline	Chr3:120650861	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications		rs_569846003	4 SubmittersRCV000670576
NM_000187.4(HGD):c.1120G>C (p.Asp374His)	SNV Germline	Chr3:120633215	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications		rs_981454067	4 SubmittersRCV000664925
NM_000187.4(HGD):c.879+1G>A	SNV Unknown	Chr3:120641588	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1553716979	1 SubmittersRCV000672087
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	SNV Germline	Chr3:120633257	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts		rs_368717991	3 SubmittersRCV000793180
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		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		rs_1940645842	3 SubmittersRCV001067792
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)	SNV Germline	Chr3:120633296	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_975005146	2 SubmittersRCV001054603
NM_000187.4(HGD):c.680T>C (p.Phe227Ser)	SNV Germline	Chr3:120644413	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1941093400	2 SubmittersRCV001037383
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)	SNV Germline	Chr3:120652643	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts		rs_766714128	2 SubmittersRCV001061073
NM_000187.4(HGD):c.753C>T (p.Gly251=)	SNV Germline	Chr3:120644340	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1357020990	2 SubmittersRCV001075890
NM_000187.4(HGD):c.177-5T>C	SNV Germline	Chr3:120670537	Conflicting classifications of pathogenicity	Alkaptonuria	Criteria Provided Conflicting Classifications		rs_768308376	2 SubmittersRCV001146463
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)	SNV Germline	Chr3:120644428	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1576294110	2 SubmittersRCV001194660
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)	SNV Germline	Chr3:120646986	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1031569954	2 SubmittersRCV001194659
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)	SNV Germline	Chr3:120650795	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1941316527	1 SubmittersRCV001194658
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)	SNV Germline	Chr3:120674946	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1708095030	2 SubmittersRCV001194657
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)	SNV Germline	Chr3:120674950	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1243059404	2 SubmittersRCV001194656
NM_000187.4(HGD):c.1A>G (p.Met1Val)	SNV Germline	Chr3:120682111	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1708240463	2 SubmittersRCV001194655
NM_000187.4(HGD):c.502G>A (p.Glu168Lys)	SNV Germline	Chr3:120647020	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_375283568	2 SubmittersRCV001215109
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)	SNV Germline	Chr3:120674920	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_759435977	3 SubmittersRCV001242145
NM_000187.4(HGD):c.469+2T>C	SNV Germline	Chr3:120647875	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_745333667	2 SubmittersRCV001232918
NM_000187.4(HGD):c.469+1G>C	SNV Germline	Chr3:120647876	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1260545974	2 SubmittersRCV001242049
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)	SNV Germline	Chr3:120650841	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts		rs_564979861	3 SubmittersRCV001376082
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)	SNV Germline	Chr3:120646350	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_2107510544	2 SubmittersRCV001376105
NM_000187.4(HGD):c.1188+1G>A	SNV Germline	Chr3:120633146	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_760206323	2 SubmittersRCV001386852
NM_000187.4(HGD):c.1006+2T>A	SNV Germline	Chr3:120638453	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1320184173	2 SubmittersRCV001381505
NM_000187.4(HGD):c.583G>T (p.Glu195Ter)	SNV Germline	Chr3:120646333	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1184695718	1 SubmittersRCV001389681
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)	SNV Germline	Chr3:120670523	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		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		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		rs_755734596	3 SubmittersRCV001542260
NM_000187.4(HGD):c.16-2063A>C	SNV Unknown	Chr3:120677926	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided		rs_1168687230	1 SubmittersRCV001799115
NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)	SNV Unknown	Chr3:120633251	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided		rs_2107489383	1 SubmittersRCV001799116
NM_000187.4(HGD):c.587C>T (p.Thr196Ile)	SNV Unknown	Chr3:120646329	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided		rs_781491692	1 SubmittersRCV001799117
NM_000187.4(HGD):c.502G>T (p.Glu168Ter)	SNV Germline	Chr3:120647020	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_375283568	2 SubmittersRCV002021839
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)	SNV Germline	Chr3:120641647	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1397264922	2 SubmittersRCV001999116
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)	SNV Germline	Chr3:120644420	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_756789146	2 SubmittersRCV002023302
NM_000187.4(HGD):c.11T>C (p.Leu4Ser)	SNV Germline	Chr3:120682101	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_786204422	2 SubmittersRCV001946825
NM_000187.4(HGD):c.283-1G>A	SNV Germline	Chr3:120652652	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_2107522179	1 SubmittersRCV002003374
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)	SNV Germline	Chr3:120628449	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_1186509068	1 SubmittersRCV001956399
NM_000187.4(HGD):c.368G>A (p.Gly123Glu)	SNV Germline	Chr3:120650840	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_374473331	1 SubmittersRCV002026291
NM_000187.4(HGD):c.1007-2A>T	SNV Germline	Chr3:120633330	Pathogenic	Alkaptonuria HGD-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1559781702	3 SubmittersRCV001949356 RCV003401973
NM_000187.4(HGD):c.359G>T (p.Cys120Phe)	SNV Germline	Chr3:120650849	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts		rs_752153829	3 SubmittersRCV001884025
NM_000187.4(HGD):c.775-1G>A	SNV Germline	Chr3:120641694	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter		rs_2107502859	1 SubmittersRCV002010401
NM_000187.4(HGD):c.532G>T (p.Glu178Ter)	SNV Germline	Chr3:120646990	Pathogenic/Likely pathogenic	Condition: not provided Alkaptonuria HGD-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1941184654	4 SubmittersRCV002254498 RCV003989139 RCV003943328
NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)	SNV Unknown	Chr3:120644346	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002306462
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)	SNV Unknown	Chr3:120644431	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002306482
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)	SNV Unknown	Chr3:120670523	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002310475
NM_000187.4(HGD):c.650-13T>G	SNV Germline	Chr3:120644456	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			2 SubmittersRCV003068918
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)	SNV Germline	Chr3:120638500	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			2 SubmittersRCV002651719
NM_000187.4(HGD):c.898G>C (p.Val300Leu)	SNV Germline	Chr3:120638563	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002666755
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)	SNV Germline	Chr3:120644394	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002770588
NM_000187.4(HGD):c.177-1G>T	SNV Germline	Chr3:120670533	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002876271
NM_000187.4(HGD):c.1188+2T>A	SNV Germline	Chr3:120633145	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV002953408
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)	SNV Germline	Chr3:120647040	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003016938
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)	SNV Germline	Chr3:120641648	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003028652
NM_000187.4(HGD):c.880-2A>G	SNV Germline	Chr3:120638583	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			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			3 SubmittersRCV003230892 RCV003337424
NM_000187.4(HGD):c.774+1G>T	SNV Germline	Chr3:120644318	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336654
NM_000187.4(HGD):c.87+1G>A	SNV Germline	Chr3:120675791	Pathogenic/Likely pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003336655
NM_000187.4(HGD):c.650-56G>A	SNV Germline	Chr3:120644499	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336663
NM_000187.4(HGD):c.650-17G>A	SNV Germline	Chr3:120644460	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336672
NM_000187.4(HGD):c.180G>A (p.Trp60Ter)	SNV Germline	Chr3:120670529	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336675
NM_000187.4(HGD):c.433A>T (p.Arg145Ter)	SNV Germline	Chr3:120650775	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336676
NM_000187.4(HGD):c.860C>A (p.Ser287Ter)	SNV Germline	Chr3:120641608	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336677
NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr3:120633275	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336678
NM_000187.4(HGD):c.649+39T>G	SNV Germline	Chr3:120646228	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336679
NM_000187.4(HGD):c.649+1G>A	SNV Germline	Chr3:120646266	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336680
NM_000187.4(HGD):c.470-1G>A	SNV Germline	Chr3:120647053	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336681
NM_000187.4(HGD):c.1188+8T>A	SNV Germline	Chr3:120633139	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336682
NM_000187.4(HGD):c.550-2A>G	SNV Germline	Chr3:120646368	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336683
NM_000187.4(HGD):c.469+6T>C	SNV Germline	Chr3:120647871	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003336684
NM_000187.4(HGD):c.549+1G>A	SNV Germline	Chr3:120646972	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337701
NM_000187.4(HGD):c.189G>A (p.Arg63=)	SNV Germline	Chr3:120670520	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337702
NM_000187.4(HGD):c.549+1G>T	SNV Germline	Chr3:120646972	Pathogenic	Alkaptonuria	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003337703
NM_000187.4(HGD):c.775-16T>A	SNV Germline	Chr3:120641709	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337704
NM_000187.4(HGD):c.469+5G>A	SNV Germline	Chr3:120647872	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337705
NM_000187.4(HGD):c.177-2A>G	SNV Germline	Chr3:120670534	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337706
NM_000187.4(HGD):c.550-2A>C	SNV Germline	Chr3:120646368	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337707
NM_000187.4(HGD):c.1006+6T>C	SNV Germline	Chr3:120638449	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337708
NM_000187.4(HGD):c.15G>A (p.Lys5=)	SNV Germline	Chr3:120682097	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003337709
NM_000187.4(HGD):c.37G>A (p.Glu13Lys)	SNV Germline	Chr3:120675842	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387455
NM_000187.4(HGD):c.171G>C (p.Lys57Asn)	SNV Germline	Chr3:120674906	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387456
NM_000187.4(HGD):c.174A>T (p.Arg58Ser)	SNV Germline	Chr3:120674903	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387457
NM_000187.4(HGD):c.178T>G (p.Trp60Gly)	SNV Germline	Chr3:120670531	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387458
NM_000187.4(HGD):c.182T>C (p.Leu61Pro)	SNV Germline	Chr3:120670527	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387459
NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)	SNV Germline	Chr3:120670525	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387460
NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)	SNV Germline	Chr3:120670524	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387461
NM_000187.4(HGD):c.217T>C (p.Phe73Leu)	SNV Germline	Chr3:120670492	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387462
NM_000187.4(HGD):c.274C>A (p.Pro92Thr)	SNV Germline	Chr3:120670435	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387463
NM_000187.4(HGD):c.289T>C (p.Trp97Arg)	SNV Germline	Chr3:120652645	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387464
NM_000187.4(HGD):c.289T>G (p.Trp97Gly)	SNV Germline	Chr3:120652645	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387465
NM_000187.4(HGD):c.52G>A (p.Asp18Asn)	SNV Germline	Chr3:120675827	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387466
NM_000187.4(HGD):c.291G>C (p.Trp97Cys)	SNV Germline	Chr3:120652643	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387467
NM_000187.4(HGD):c.299T>C (p.Phe100Ser)	SNV Germline	Chr3:120652635	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387468
NM_000187.4(HGD):c.334T>G (p.Phe112Val)	SNV Germline	Chr3:120652600	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387469
NM_000187.4(HGD):c.335T>C (p.Phe112Ser)	SNV Germline	Chr3:120652599	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387470
NM_000187.4(HGD):c.362G>A (p.Gly121Glu)	SNV Germline	Chr3:120650846	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387471
NM_000187.4(HGD):c.365C>A (p.Ala122Asp)	SNV Germline	Chr3:120650843	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387472
NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)	SNV Germline	Chr3:120675827	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387473
NM_000187.4(HGD):c.368G>C (p.Gly123Ala)	SNV Germline	Chr3:120650840	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387474
NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)	SNV Germline	Chr3:120650801	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387475
NM_000187.4(HGD):c.440T>C (p.Phe147Ser)	SNV Germline	Chr3:120647906	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387476
NM_000187.4(HGD):c.449C>T (p.Ser150Leu)	SNV Germline	Chr3:120647897	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387477
NM_000187.4(HGD):c.457G>A (p.Asp153Asn)	SNV Germline	Chr3:120647889	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387478
NM_000187.4(HGD):c.469G>T (p.Val157Phe)	SNV Germline	Chr3:120647877	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387479
NM_000187.4(HGD):c.458A>G (p.Asp153Gly)	SNV Germline	Chr3:120647888	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387480
NM_000187.4(HGD):c.473C>G (p.Pro158Arg)	SNV Germline	Chr3:120647049	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387481
NM_000187.4(HGD):c.504G>C (p.Glu168Asp)	SNV Germline	Chr3:120647018	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387482
NM_000187.4(HGD):c.507T>C (p.Phe169=)	SNV Germline	Chr3:120647015	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387483
NM_000187.4(HGD):c.54T>A (p.Asp18Glu)	SNV Germline	Chr3:120675825	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387484
NM_000187.4(HGD):c.500C>T (p.Thr167Ile)	SNV Germline	Chr3:120647022	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387485
NM_000187.4(HGD):c.74T>C (p.Leu25Pro)	SNV Germline	Chr3:120675805	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387486
NM_000187.4(HGD):c.98A>G (p.Gln33Arg)	SNV Germline	Chr3:120674979	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387487
NM_000187.4(HGD):c.454G>A (p.Gly152Arg)	SNV Germline	Chr3:120647892	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387488
NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)	SNV Germline	Chr3:120674958	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387489
NM_000187.4(HGD):c.130C>T (p.Leu44Phe)	SNV Germline	Chr3:120674947	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003387490
NM_000187.4(HGD):c.508G>A (p.Gly170Ser)	SNV Germline	Chr3:120647014	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388974
NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)	SNV Germline	Chr3:120633286	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388975
NM_000187.4(HGD):c.533A>G (p.Glu178Gly)	SNV Germline	Chr3:120646989	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388976
NM_000187.4(HGD):c.589A>G (p.Arg197Gly)	SNV Germline	Chr3:120646327	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388977
NM_000187.4(HGD):c.656A>G (p.Asn219Ser)	SNV Germline	Chr3:120644437	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388978
NM_000187.4(HGD):c.828G>C (p.Lys276Asn)	SNV Germline	Chr3:120641640	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388979
NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)	SNV Germline	Chr3:120633256	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388980
NM_000187.4(HGD):c.557T>A (p.Met186Lys)	SNV Germline	Chr3:120646359	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388981
NM_000187.4(HGD):c.509G>C (p.Gly170Ala)	SNV Germline	Chr3:120647013	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388982
NM_000187.4(HGD):c.614G>A (p.Gly205Asp)	SNV Germline	Chr3:120646302	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388983
NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)	SNV Germline	Chr3:120633278	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388984
NM_000187.4(HGD):c.515T>C (p.Met172Thr)	SNV Germline	Chr3:120647007	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388985
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)	SNV Germline	Chr3:120644419	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			2 SubmittersRCV003388986
NM_000187.4(HGD):c.733G>T (p.Val245Phe)	SNV Germline	Chr3:120644360	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388987
NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)	SNV Germline	Chr3:120633326	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388988
NM_000187.4(HGD):c.513G>T (p.Lys171Asn)	SNV Germline	Chr3:120647009	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388989
NM_000187.4(HGD):c.674G>T (p.Arg225Leu)	SNV Germline	Chr3:120644419	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388990
NM_000187.4(HGD):c.773A>C (p.Gln258Pro)	SNV Germline	Chr3:120644320	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388991
NM_000187.4(HGD):c.553G>A (p.Gly185Arg)	SNV Germline	Chr3:120646363	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388992
NM_000187.4(HGD):c.914C>T (p.Ser305Phe)	SNV Germline	Chr3:120638547	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388993
NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)	SNV Germline	Chr3:120633250	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388994
NM_000187.4(HGD):c.649G>T (p.Gly217Trp)	SNV Germline	Chr3:120646267	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388996
NM_000187.4(HGD):c.806A>G (p.His269Arg)	SNV Germline	Chr3:120641662	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388997
NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)	SNV Germline	Chr3:120633260	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388998
NM_000187.4(HGD):c.962G>A (p.Arg321Gln)	SNV Germline	Chr3:120638499	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003388999
NM_000187.4(HGD):c.791A>G (p.Asn264Ser)	SNV Germline	Chr3:120641677	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389000
NM_000187.4(HGD):c.614G>T (p.Gly205Val)	SNV Germline	Chr3:120646302	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389001
NM_000187.4(HGD):c.742A>G (p.Lys248Glu)	SNV Germline	Chr3:120644351	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389002
NM_000187.4(HGD):c.541G>T (p.Val181Phe)	SNV Germline	Chr3:120646981	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389003
NM_000187.4(HGD):c.875A>G (p.His292Arg)	SNV Germline	Chr3:120641593	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389004
NM_000187.4(HGD):c.964T>C (p.Trp322Arg)	SNV Germline	Chr3:120638497	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389005
NM_000187.4(HGD):c.593G>A (p.Gly198Asp)	SNV Germline	Chr3:120646323	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389006
NM_000187.4(HGD):c.800C>T (p.Ala267Val)	SNV Germline	Chr3:120641668	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389007
NM_000187.4(HGD):c.647T>C (p.Ile216Thr)	SNV Germline	Chr3:120646269	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389008
NM_000187.4(HGD):c.688C>A (p.Pro230Thr)	SNV Germline	Chr3:120644405	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389009
NM_000187.4(HGD):c.873C>A (p.Asp291Glu)	SNV Germline	Chr3:120641595	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389010
NM_000187.4(HGD):c.990G>C (p.Arg330Ser)	SNV Germline	Chr3:120638471	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389011
NM_000187.4(HGD):c.659G>T (p.Gly220Val)	SNV Germline	Chr3:120644434	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389012
NM_000187.4(HGD):c.787T>C (p.Phe263Leu)	SNV Germline	Chr3:120641681	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389013
NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)	SNV Germline	Chr3:120641653	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389014
NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)	SNV Germline	Chr3:120633301	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389015
NM_000187.4(HGD):c.832A>G (p.Asn278Asp)	SNV Germline	Chr3:120641636	Likely pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389016
NM_000187.4(HGD):c.679T>C (p.Phe227Leu)	SNV Germline	Chr3:120644414	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389017
NM_000187.4(HGD):c.995C>G (p.Pro332Arg)	SNV Germline	Chr3:120638466	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389018
NM_000187.4(HGD):c.946G>A (p.Val316Ile)	SNV Germline	Chr3:120638515	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389019
NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)	SNV Germline	Chr3:120633328	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389020
NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)	SNV Germline	Chr3:120633316	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389021
NM_000187.4(HGD):c.986T>G (p.Phe329Cys)	SNV Germline	Chr3:120638475	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389022
NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)	SNV Germline	Chr3:120633328	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389023
NM_000187.4(HGD):c.1037T>C (p.Ile346Thr)	SNV Germline	Chr3:120633298	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389024
NM_000187.4(HGD):c.410T>C (p.Leu137Pro)	SNV Germline	Chr3:120650798	Pathogenic	Alkaptonuria	No Assertion Criteria Provided			1 SubmittersRCV003389025
NM_000187.4(HGD):c.926G>T (p.Gly309Val)	SNV Germline	Chr3:120638535	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003482188
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)	SNV Germline	Chr3:120633259	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003501695
NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)	SNV Germline	Chr3:120633204	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003500089
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)	SNV Germline	Chr3:120644391	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003607764
NM_000187.4(HGD):c.435-1G>C	SNV Germline	Chr3:120647912	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003608275
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)	SNV Germline	Chr3:120674972	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003607042
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)	SNV Germline	Chr3:120670454	Pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003860527
NM_000187.4(HGD):c.804G>C (p.Trp268Cys)	SNV Germline	Chr3:120641664	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003990601
NM_000187.4(HGD):c.342+2T>C	SNV Germline	Chr3:120652590	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003990870
NM_000187.4(HGD):c.1034T>C (p.Leu345Pro)	SNV Germline	Chr3:120633301	Likely pathogenic	Alkaptonuria	Criteria Provided Single Submitter			1 SubmittersRCV003990954

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/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA340043

rs_120074170

5 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

10 SubmittersRCV000003318 RCV001725928

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

SNV
Germline

Chr3:120675864

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA340046

rs_397515347

8 SubmittersRCV000003320

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

SNV
Germline

Chr3:120633223

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA277917

rs_120074172

3 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

12 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

7 SubmittersRCV000003325

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

SNV
Germline

Chr3:120674937

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_369517993

2 SubmittersRCV003387491

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

SNV
Germline

Chr3:120652591

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA344905

rs_397515518

3 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

3 SubmittersRCV000169039 RCV003225036

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

SNV
Germline

Chr3:120644419

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA277989

rs_562853291

4 SubmittersRCV000169601

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

SNV
Germline

Chr3:120650843

Pathogenic/Likely 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/Likely 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

3 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

2 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

3 SubmittersRCV000409498

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

SNV
Germline

Chr3:120633146

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA2559950

rs_760206323

3 SubmittersRCV000409868

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

SNV
Germline

Chr3:120646265

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

CA16040890

rs_1057516307

2 SubmittersRCV000411569

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

SNV
Germline

Chr3:120670530

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

CA16040896

rs_1057516467

3 SubmittersRCV000409762

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

SNV
Unknown

Chr3:120670533

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

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

2 SubmittersRCV000410834

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

SNV
Germline

Chr3:120682109

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

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

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

rs_375396766

4 SubmittersRCV000668985

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

SNV
Germline

Chr3:120650861

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

rs_569846003

4 SubmittersRCV000670576

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

SNV
Germline

Chr3:120633215

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

rs_981454067

4 SubmittersRCV000664925

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

SNV
Unknown

Chr3:120641588

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1553716979

1 SubmittersRCV000672087

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

SNV
Germline

Chr3:120633257

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_368717991

3 SubmittersRCV000793180

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

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

rs_1940645842

3 SubmittersRCV001067792

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

SNV
Germline

Chr3:120633296

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_975005146

2 SubmittersRCV001054603

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

SNV
Germline

Chr3:120644413

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1941093400

2 SubmittersRCV001037383

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

SNV
Germline

Chr3:120652643

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_766714128

2 SubmittersRCV001061073

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

SNV
Germline

Chr3:120644340

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1357020990

2 SubmittersRCV001075890

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

SNV
Germline

Chr3:120670537

Conflicting classifications of pathogenicity

Alkaptonuria

Criteria Provided
Conflicting Classifications

rs_768308376

2 SubmittersRCV001146463

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

SNV
Germline

Chr3:120644428

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1576294110

2 SubmittersRCV001194660

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

SNV
Germline

Chr3:120646986

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1031569954

2 SubmittersRCV001194659

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

SNV
Germline

Chr3:120650795

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1941316527

1 SubmittersRCV001194658

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

SNV
Germline

Chr3:120674946

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1708095030

2 SubmittersRCV001194657

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

SNV
Germline

Chr3:120674950

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1243059404

2 SubmittersRCV001194656

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

SNV
Germline

Chr3:120682111

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1708240463

2 SubmittersRCV001194655

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

SNV
Germline

Chr3:120647020

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_375283568

2 SubmittersRCV001215109

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

SNV
Germline

Chr3:120674920

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_759435977

3 SubmittersRCV001242145

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

SNV
Germline

Chr3:120647875

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_745333667

2 SubmittersRCV001232918

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

SNV
Germline

Chr3:120647876

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1260545974

2 SubmittersRCV001242049

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

SNV
Germline

Chr3:120650841

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_564979861

3 SubmittersRCV001376082

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

SNV
Germline

Chr3:120646350

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_2107510544

2 SubmittersRCV001376105

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

SNV
Germline

Chr3:120633146

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_760206323

2 SubmittersRCV001386852

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

SNV
Germline

Chr3:120638453

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1320184173

2 SubmittersRCV001381505

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

SNV
Germline

Chr3:120646333

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1184695718

1 SubmittersRCV001389681

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

SNV
Germline

Chr3:120670523

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

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

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

rs_755734596

3 SubmittersRCV001542260

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

SNV
Unknown

Chr3:120677926

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

rs_1168687230

1 SubmittersRCV001799115

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

SNV
Unknown

Chr3:120633251

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

rs_2107489383

1 SubmittersRCV001799116

NM_000187.4(HGD):c.587C>T (p.Thr196Ile)

SNV
Unknown

Chr3:120646329

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

rs_781491692

1 SubmittersRCV001799117

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

SNV
Germline

Chr3:120647020

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_375283568

2 SubmittersRCV002021839

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

SNV
Germline

Chr3:120641647

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1397264922

2 SubmittersRCV001999116

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

SNV
Germline

Chr3:120644420

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_756789146

2 SubmittersRCV002023302

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

SNV
Germline

Chr3:120682101

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_786204422

2 SubmittersRCV001946825

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

SNV
Germline

Chr3:120652652

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_2107522179

1 SubmittersRCV002003374

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

SNV
Germline

Chr3:120628449

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_1186509068

1 SubmittersRCV001956399

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

SNV
Germline

Chr3:120650840

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_374473331

1 SubmittersRCV002026291

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

SNV
Germline

Chr3:120633330

Pathogenic

Alkaptonuria
HGD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1559781702

3 SubmittersRCV001949356 RCV003401973

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

SNV
Germline

Chr3:120650849

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

rs_752153829

3 SubmittersRCV001884025

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

SNV
Germline

Chr3:120641694

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

rs_2107502859

1 SubmittersRCV002010401

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

SNV
Germline

Chr3:120646990

Pathogenic/Likely pathogenic

Condition: not provided
Alkaptonuria
HGD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1941184654

4 SubmittersRCV002254498 RCV003989139 RCV003943328

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

SNV
Unknown

Chr3:120644346

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002306462

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

SNV
Unknown

Chr3:120644431

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002306482

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

SNV
Unknown

Chr3:120670523

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002310475

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

SNV
Germline

Chr3:120644456

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

2 SubmittersRCV003068918

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

SNV
Germline

Chr3:120638500

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

2 SubmittersRCV002651719

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

SNV
Germline

Chr3:120638563

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002666755

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

SNV
Germline

Chr3:120644394

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002770588

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

SNV
Germline

Chr3:120670533

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002876271

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

SNV
Germline

Chr3:120633145

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV002953408

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

SNV
Germline

Chr3:120647040

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003016938

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

SNV
Germline

Chr3:120641648

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003028652

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

SNV
Germline

Chr3:120638583

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

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

3 SubmittersRCV003230892 RCV003337424

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

SNV
Germline

Chr3:120644318

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336654

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

SNV
Germline

Chr3:120675791

Pathogenic/Likely pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003336655

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

SNV
Germline

Chr3:120644499

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336663

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

SNV
Germline

Chr3:120644460

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336672

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

SNV
Germline

Chr3:120670529

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336675

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

SNV
Germline

Chr3:120650775

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336676

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

SNV
Germline

Chr3:120641608

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336677

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

SNV
Germline

Chr3:120633275

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336678

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

SNV
Germline

Chr3:120646228

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336679

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

SNV
Germline

Chr3:120646266

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336680

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

SNV
Germline

Chr3:120647053

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336681

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

SNV
Germline

Chr3:120633139

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336682

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

SNV
Germline

Chr3:120646368

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336683

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

SNV
Germline

Chr3:120647871

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003336684

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

SNV
Germline

Chr3:120646972

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337701

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

SNV
Germline

Chr3:120670520

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337702

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

SNV
Germline

Chr3:120646972

Pathogenic

Alkaptonuria

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003337703

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

SNV
Germline

Chr3:120641709

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337704

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

SNV
Germline

Chr3:120647872

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337705

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

SNV
Germline

Chr3:120670534

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337706

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

SNV
Germline

Chr3:120646368

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337707

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

SNV
Germline

Chr3:120638449

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337708

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

SNV
Germline

Chr3:120682097

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003337709

NM_000187.4(HGD):c.37G>A (p.Glu13Lys)

SNV
Germline

Chr3:120675842

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387455

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

SNV
Germline

Chr3:120674906

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387456

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

SNV
Germline

Chr3:120674903

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387457

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

SNV
Germline

Chr3:120670531

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387458

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

SNV
Germline

Chr3:120670527

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387459

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

SNV
Germline

Chr3:120670525

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387460

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

SNV
Germline

Chr3:120670524

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387461

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

SNV
Germline

Chr3:120670492

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387462

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

SNV
Germline

Chr3:120670435

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387463

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

SNV
Germline

Chr3:120652645

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387464

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

SNV
Germline

Chr3:120652645

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387465

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

SNV
Germline

Chr3:120675827

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387466

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

SNV
Germline

Chr3:120652643

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387467

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

SNV
Germline

Chr3:120652635

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387468

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

SNV
Germline

Chr3:120652600

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387469

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

SNV
Germline

Chr3:120652599

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387470

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

SNV
Germline

Chr3:120650846

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387471

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

SNV
Germline

Chr3:120650843

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387472

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

SNV
Germline

Chr3:120675827

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387473

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

SNV
Germline

Chr3:120650840

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387474

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

SNV
Germline

Chr3:120650801

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387475

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

SNV
Germline

Chr3:120647906

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387476

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

SNV
Germline

Chr3:120647897

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387477

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

SNV
Germline

Chr3:120647889

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387478

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

SNV
Germline

Chr3:120647877

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387479

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

SNV
Germline

Chr3:120647888

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387480

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

SNV
Germline

Chr3:120647049

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387481

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

SNV
Germline

Chr3:120647018

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387482

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

SNV
Germline

Chr3:120647015

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387483

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

SNV
Germline

Chr3:120675825

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387484

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

SNV
Germline

Chr3:120647022

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387485

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

SNV
Germline

Chr3:120675805

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387486

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

SNV
Germline

Chr3:120674979

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387487

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

SNV
Germline

Chr3:120647892

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387488

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

SNV
Germline

Chr3:120674958

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387489

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

SNV
Germline

Chr3:120674947

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003387490

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

SNV
Germline

Chr3:120647014

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388974

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

SNV
Germline

Chr3:120633286

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388975

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

SNV
Germline

Chr3:120646989

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388976

NM_000187.4(HGD):c.589A>G (p.Arg197Gly)

SNV
Germline

Chr3:120646327

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388977

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

SNV
Germline

Chr3:120644437

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388978

NM_000187.4(HGD):c.828G>C (p.Lys276Asn)

SNV
Germline

Chr3:120641640

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388979

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

SNV
Germline

Chr3:120633256

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388980

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

SNV
Germline

Chr3:120646359

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388981

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

SNV
Germline

Chr3:120647013

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388982

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

SNV
Germline

Chr3:120646302

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388983

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

SNV
Germline

Chr3:120633278

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388984

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

SNV
Germline

Chr3:120647007

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388985

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

SNV
Germline

Chr3:120644419

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

2 SubmittersRCV003388986

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

SNV
Germline

Chr3:120644360

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388987

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

SNV
Germline

Chr3:120633326

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388988

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

SNV
Germline

Chr3:120647009

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388989

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

SNV
Germline

Chr3:120644419

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388990

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

SNV
Germline

Chr3:120644320

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388991

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

SNV
Germline

Chr3:120646363

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388992

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

SNV
Germline

Chr3:120638547

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388993

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

SNV
Germline

Chr3:120633250

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388994

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

SNV
Germline

Chr3:120646267

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388996

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

SNV
Germline

Chr3:120641662

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388997

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

SNV
Germline

Chr3:120633260

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388998

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

SNV
Germline

Chr3:120638499

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003388999

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

SNV
Germline

Chr3:120641677

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389000

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

SNV
Germline

Chr3:120646302

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389001

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

SNV
Germline

Chr3:120644351

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389002

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

SNV
Germline

Chr3:120646981

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389003

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

SNV
Germline

Chr3:120641593

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389004

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

SNV
Germline

Chr3:120638497

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389005

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

SNV
Germline

Chr3:120646323

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389006

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

SNV
Germline

Chr3:120641668

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389007

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

SNV
Germline

Chr3:120646269

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389008

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

SNV
Germline

Chr3:120644405

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389009

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

SNV
Germline

Chr3:120641595

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389010

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

SNV
Germline

Chr3:120638471

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389011

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

SNV
Germline

Chr3:120644434

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389012

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

SNV
Germline

Chr3:120641681

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389013

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

SNV
Germline

Chr3:120641653

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389014

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

SNV
Germline

Chr3:120633301

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389015

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

SNV
Germline

Chr3:120641636

Likely pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389016

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

SNV
Germline

Chr3:120644414

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389017

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

SNV
Germline

Chr3:120638466

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389018

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

SNV
Germline

Chr3:120638515

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389019

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

SNV
Germline

Chr3:120633328

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389020

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

SNV
Germline

Chr3:120633316

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389021

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

SNV
Germline

Chr3:120638475

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389022

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

SNV
Germline

Chr3:120633328

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389023

NM_000187.4(HGD):c.1037T>C (p.Ile346Thr)

SNV
Germline

Chr3:120633298

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389024

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

SNV
Germline

Chr3:120650798

Pathogenic

Alkaptonuria

No Assertion Criteria Provided

1 SubmittersRCV003389025

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

SNV
Germline

Chr3:120638535

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003482188

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

SNV
Germline

Chr3:120633259

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003501695

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

SNV
Germline

Chr3:120633204

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003500089

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

SNV
Germline

Chr3:120644391

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003607764

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

SNV
Germline

Chr3:120647912

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003608275

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

SNV
Germline

Chr3:120674972

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003607042

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

SNV
Germline

Chr3:120670454

Pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003860527

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

SNV
Germline

Chr3:120641664

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003990601

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

SNV
Germline

Chr3:120652590

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003990870

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

SNV
Germline

Chr3:120633301

Likely pathogenic

Alkaptonuria

Criteria Provided
Single Submitter

1 SubmittersRCV003990954