Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)	SNV Germline	ChrX:85894214	Pathogenic	Choroideremia Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA255733	rs_132630264	3 SubmittersRCV000011899 RCV001092045 RCV004814883
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)	SNV Germline	ChrX:85894227	Pathogenic	Choroideremia	No Assertion Criteria Provided	CA255736	rs_132630265	1 SubmittersRCV000011900
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)	SNV Germline	ChrX:85894201	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Single Submitter	CA255740	rs_132630267	2 SubmittersRCV000011903 RCV003556002
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)	SNV Germline	ChrX:85957918	Pathogenic	Choroideremia Condition: not provided Retinal dystrophy Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA220700	rs_132630266	11 SubmittersRCV000011904 RCV000078687 RCV004814884 RCV005887433
NM_000390.4(CHM):c.1520A>G (p.His507Arg)	SNV Germline	ChrX:85879054	Pathogenic/Likely pathogenic	Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA261228	rs_397514603	3 SubmittersRCV000033030
NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	SNV Germline	ChrX:85958872	Pathogenic	Choroideremia Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA270018	rs_527236048	9 SubmittersRCV000132595 RCV000519231 RCV003888542
NM_000390.4(CHM):c.116+1G>A	SNV Germline	ChrX:86027490	Pathogenic/Likely pathogenic	Choroideremia Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274479	rs_786204761	9 SubmittersRCV000169622 RCV001075041 RCV001268402
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)	SNV Germline	ChrX:85956175	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA236357	rs_786205604	2 SubmittersRCV000171441
NM_000390.4(CHM):c.957A>G (p.Thr319=)	SNV Germline	ChrX:85956362	Conflicting classifications of pathogenicity	Condition: not provided Choroideremia	Criteria Provided Conflicting Classifications	CA247527	rs_373242750	3 SubmittersRCV000180152 RCV001274745
NM_000390.4(CHM):c.1138C>T (p.Gln380Ter)	SNV Germline	ChrX:85956181	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10603639	rs_886041181	2 SubmittersRCV000285432
NM_000390.4(CHM):c.116+1G>T	SNV Germline	ChrX:86027490	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA10603643	rs_786204761	4 SubmittersRCV000354112 RCV001075589 RCV001775108
NM_000390.4(CHM):c.799C>T (p.Arg267Ter)	SNV Germline	ChrX:85958881	Pathogenic	Condition: not provided Retinal dystrophy Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA10603696	rs_886041179	7 SubmittersRCV000320612 RCV001074621 RCV001002947
NM_000390.4(CHM):c.49+1G>T	SNV Germline	ChrX:86047483	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603699	rs_886041174	1 SubmittersRCV000313760
NM_000390.4(CHM):c.969T>A (p.Tyr323Ter)	SNV Germline	ChrX:85956350	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603740	rs_886041180	1 SubmittersRCV000379861
NM_000390.4(CHM):c.757C>T (p.Arg253Ter)	SNV Germline	ChrX:85958923	Pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy CHM-related disorder Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA10603741	rs_886041178	8 SubmittersRCV000265578 RCV000787565 RCV003888669 RCV004755834 RCV005863076
NM_000390.4(CHM):c.130G>T (p.Gly44Ter)	SNV Germline	ChrX:85981796	Pathogenic	Condition: not provided CHM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603742	rs_886041175	3 SubmittersRCV000259262 RCV003909900
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)	SNV Germline	ChrX:85958965	Pathogenic	Condition: not provided Choroideremia Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10465535	rs_776256380	10 SubmittersRCV000302207 RCV000763635 RCV004816501
NM_000390.4(CHM):c.1244+8T>A	SNV Germline	ChrX:85911253	Conflicting classifications of pathogenicity	Condition: not provided Choroideremia not specified	Criteria Provided Conflicting Classifications	CA10465450	rs_369829791	6 SubmittersRCV000389318 RCV001274743 RCV001699334
NM_000390.4(CHM):c.1A>G (p.Met1Val)	SNV Unknown	ChrX:86047532	Likely pathogenic	Choroideremia	No Assertion Criteria Provided	CA16042050	rs_1057516265	1 SubmittersRCV000412301
NM_000390.4(CHM):c.1213C>T (p.Gln405Ter)	SNV Germline	ChrX:85911292	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16043301	rs_1057517715	3 SubmittersRCV000413451 RCV004816639
NM_000390.4(CHM):c.1342C>T (p.Gln448Ter)	SNV Germline	ChrX:85901091	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043334	rs_1057517716	2 SubmittersRCV000414063
NM_000390.4(CHM):c.1019C>A (p.Ser340Ter)	SNV Germline	ChrX:85956300	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA16043335	rs_1057517714	3 SubmittersRCV000414588 RCV006549981
NM_000390.4(CHM):c.133G>T (p.Gly45Ter)	SNV Germline	ChrX:85981793	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16608617	rs_1057520765	1 SubmittersRCV000435190
NM_000390.4(CHM):c.1334C>G (p.Ser445Ter)	SNV Germline	ChrX:85901099	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16608997	rs_1057520629	1 SubmittersRCV000431379
NM_000390.4(CHM):c.49+5G>A	SNV Germline	ChrX:86047479	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16608998	rs_1057521475	3 SubmittersRCV000419936 RCV004816659
NM_000390.4(CHM):c.315-1536A>G	SNV Germline	ChrX:85965588	Likely pathogenic	Retinal dystrophy Abnormality of the eye Choroideremia	Criteria Provided Single Submitter	CA645509232	rs_1555955061	3 SubmittersRCV000504724 RCV000504914 RCV001542630
NM_000390.4(CHM):c.1771-1G>A	SNV Germline	ChrX:85864822	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785630	rs_1556191599	2 SubmittersRCV000522740
NM_000390.4(CHM):c.1609+2T>A	SNV Germline	ChrX:85878963	Pathogenic/Likely pathogenic	Condition: not provided Choroideremia Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA413787470	rs_1556217900	3 SubmittersRCV000520979 RCV005606670 RCV005901173
NM_000390.4(CHM):c.820-2A>G	SNV Germline	ChrX:85957977	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413785934	rs_1556307713	3 SubmittersRCV000521080 RCV000990895
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)	SNV Germline	ChrX:85911287	Pathogenic	Condition: not provided Choroideremia CHM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA413790282	rs_1556277815	4 SubmittersRCV000578632 RCV001775134 RCV004755977
NM_000390.4(CHM):c.1413G>A (p.Gln471=)	SNV Germline	ChrX:85900646	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA517493738	rs_1556257626	2 SubmittersRCV000585239 RCV004817787
NM_000390.4(CHM):c.311C>G (p.Ala104Gly)	SNV Germline	ChrX:85978770	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465613	rs_11539374	3 SubmittersRCV000591547 RCV000875812 RCV005318440
NM_000390.4(CHM):c.1771-8T>C	SNV Germline	ChrX:85864829	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA332647629	rs_912390081	2 SubmittersRCV000592998
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)	SNV Germline	ChrX:86047511	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413788688	rs_1603288832	4 SubmittersRCV000787004 RCV001092880
NM_000390.4(CHM):c.3G>A (p.Met1Ile)	SNV Unknown	ChrX:86047530	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA413788726	rs_1603288875	1 SubmittersRCV000787564
NM_000390.4(CHM):c.1255A>G (p.Ile419Val)	SNV Germline	ChrX:85901178	Conflicting classifications of pathogenicity	Condition: not provided Choroideremia Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10465422	rs_140093046	4 SubmittersRCV000878591 RCV001830930 RCV002536799 RCV003890004
NM_000390.4(CHM):c.1678A>T (p.Ile560Phe)	SNV Germline	ChrX:85873144	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465329	rs_759127730	2 SubmittersRCV000896960 RCV002540152
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)	SNV Unknown	ChrX:85879001	Pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413787561	rs_1603236385	1 SubmittersRCV000990893
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)	SNV Germline	ChrX:85901119	Pathogenic	Choroideremia	No Assertion Criteria Provided	CA413789678	rs_1603244690	1 SubmittersRCV001002945
NM_000390.4(CHM):c.819+1G>C	SNV Germline	ChrX:85958860	Pathogenic	Choroideremia	No Assertion Criteria Provided	CA413785941	rs_1603263147	1 SubmittersRCV001002946
NM_000390.4(CHM):c.1413+1G>T	SNV Germline	ChrX:85900645	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413789191	rs_1926202120	3 SubmittersRCV001092046 RCV001199668
NM_000390.4(CHM):c.469C>T (p.Gln157Ter)	SNV Germline	ChrX:85963898	Pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413787104	rs_1930431885	1 SubmittersRCV001199666
NM_000390.4(CHM):c.940G>A (p.Gly314Arg)	SNV Germline	ChrX:85957855	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785642	rs_1930082958	2 SubmittersRCV001041242
NM_000390.4(CHM):c.126C>G (p.Tyr42Ter)	SNV Germline	ChrX:85981800	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788373	rs_1931628708	1 SubmittersRCV001067549
NM_000390.4(CHM):c.1511-2A>G	SNV Germline	ChrX:85879065	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787704	rs_1924597556	1 SubmittersRCV001062736
NM_000390.4(CHM):c.190-2A>G	SNV Germline	ChrX:85978893	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413788219	rs_774941511	2 SubmittersRCV001039352
NM_000390.4(CHM):c.1245-1G>T	SNV Germline	ChrX:85901189	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789994	rs_1926267493	1 SubmittersRCV001049376
NM_000390.4(CHM):c.1411C>T (p.Gln471Ter)	SNV Germline	ChrX:85900648	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413789209	rs_1926202704	2 SubmittersRCV001073299 RCV002554654
NM_000390.4(CHM):c.971T>G (p.Leu324Ter)	SNV Germline	ChrX:85956348	Pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785472	rs_1930006988	2 SubmittersRCV001074294 RCV003565449
NM_000390.4(CHM):c.653C>G (p.Ser218Ter)	SNV Germline	ChrX:85963714	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413786414	rs_1930414140	3 SubmittersRCV001074941 RCV001862584
NM_000390.4(CHM):c.355C>T (p.Gln119Ter)	SNV Germline	ChrX:85964012	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA413787370	rs_1930445401	1 SubmittersRCV001073539
NM_000390.4(CHM):c.1770+2T>A	SNV Germline	ChrX:85873050	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA413786192	rs_1924181543	1 SubmittersRCV001074496
NM_000390.4(CHM):c.1349+3A>C	SNV Germline	ChrX:85901081	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA916082497	rs_1326972655	2 SubmittersRCV001073432 RCV003558651
NM_000390.4(CHM):c.819+1G>A	SNV Germline	ChrX:85958860	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785942	rs_1603263147	3 SubmittersRCV001075027 RCV001381012
NM_000390.4(CHM):c.189+1G>C	SNV Germline	ChrX:85981736	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413788227	rs_1931625021	2 SubmittersRCV001074312 RCV001381241
NM_000390.4(CHM):c.49+2T>C	SNV Germline	ChrX:86047482	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA413788626	rs_1934693393	1 SubmittersRCV001073288
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter)	SNV Germline	ChrX:85873178	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413786920	rs_1924195176	3 SubmittersRCV001092043
NM_000390.4(CHM):c.924T>G (p.Tyr308Ter)	SNV Germline	ChrX:85957871	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785681	rs_758669355	2 SubmittersRCV001092048
NM_000390.4(CHM):c.50-1G>C	SNV Germline	ChrX:86027558	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413788165	rs_1933881504	2 SubmittersRCV001092879
NM_000390.4(CHM):c.286C>T (p.Gln96Ter)	SNV Germline	ChrX:85978795	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA413787826	rs_1931431411	2 SubmittersRCV001212672 RCV003890363
NM_000390.4(CHM):c.226C>T (p.Gln76Ter)	SNV Germline	ChrX:85978855	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788086	rs_1931439989	1 SubmittersRCV001212767
NM_000390.4(CHM):c.819+2T>G	SNV Germline	ChrX:85958859	Pathogenic	Condition: not provided Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA413785937	rs_1930141997	2 SubmittersRCV001201554 RCV005908963
NM_000390.4(CHM):c.1351C>T (p.Gln451Ter)	SNV Germline	ChrX:85900708	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789456	rs_1603244482	1 SubmittersRCV001236950
NM_000390.4(CHM):c.1273C>T (p.Gln425Ter)	SNV Germline	ChrX:85901160	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789861	rs_1926263167	1 SubmittersRCV001235454
NM_000390.4(CHM):c.141G>A (p.Trp47Ter)	SNV Germline	ChrX:85981785	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788342	rs_1931627432	1 SubmittersRCV001234034
NM_000390.4(CHM):c.940+1G>T	SNV Germline	ChrX:85957854	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785637	rs_1930082852	1 SubmittersRCV001228070
NM_000390.4(CHM):c.941-1G>T	SNV Germline	ChrX:85956379	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785591	rs_1930009592	1 SubmittersRCV001268035
NM_000390.4(CHM):c.315-4587T>A	SNV Germline	ChrX:85968639	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1139667683	rs_1930707138	2 SubmittersRCV001268673
NM_000390.4(CHM):c.83C>G (p.Ser28Ter)	SNV Germline	ChrX:86027524	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413787996	rs_2147791162	1 SubmittersRCV001376425
NM_000390.4(CHM):c.1609+1G>A	SNV Germline	ChrX:85878964	Likely pathogenic	Condition: not provided Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA413787473	rs_2148126338	2 SubmittersRCV001378007 RCV005912599
NM_000390.4(CHM):c.820-8T>G	SNV Germline	ChrX:85957983	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2499226905	rs_2147665924	1 SubmittersRCV001378122
NM_000390.4(CHM):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:86047531	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788728	rs_2147819159	1 SubmittersRCV001378486
NM_000390.4(CHM):c.1670C>A (p.Ser557Ter)	SNV Germline	ChrX:85873152	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786757	rs_775176173	1 SubmittersRCV001388433
NM_000390.4(CHM):c.1663A>T (p.Arg555Ter)	SNV Germline	ChrX:85873159	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413786802	rs_2148120604	3 SubmittersRCV001386023 RCV005635144
NM_000390.4(CHM):c.1565C>A (p.Ser522Ter)	SNV Germline	ChrX:85879009	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787578	rs_2148126425	1 SubmittersRCV001384982
NM_000390.4(CHM):c.1414-1G>A	SNV Germline	ChrX:85894285	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788620	rs_2148144372	1 SubmittersRCV001386025
NM_000390.4(CHM):c.1413+1G>A	SNV Germline	ChrX:85900645	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789195	rs_1926202120	1 SubmittersRCV001386026
NM_000390.4(CHM):c.1245-2A>G	SNV Germline	ChrX:85901190	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789999	rs_2148154378	1 SubmittersRCV001389718
NM_000390.4(CHM):c.1234G>T (p.Glu412Ter)	SNV Germline	ChrX:85911271	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413790246	rs_1927009899	1 SubmittersRCV001386027
NM_000390.4(CHM):c.1166+1G>C	SNV Germline	ChrX:85956152	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413784701	rs_2147662906	2 SubmittersRCV001389181 RCV001587392
NM_000390.4(CHM):c.1153C>T (p.Gln385Ter)	SNV Germline	ChrX:85956166	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413784762	rs_2147662919	1 SubmittersRCV001389389
NM_000390.4(CHM):c.941-2A>G	SNV Germline	ChrX:85956380	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785598	rs_2147663521	2 SubmittersRCV001381010
NM_000390.4(CHM):c.940+1G>C	SNV Germline	ChrX:85957854	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785638	rs_1930082852	1 SubmittersRCV001389762
NM_000390.4(CHM):c.820-1G>C	SNV Germline	ChrX:85957976	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785931	rs_1930090887	1 SubmittersRCV001381011
NM_000390.4(CHM):c.817C>T (p.Gln273Ter)	SNV Germline	ChrX:85958863	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA413785950	rs_2147667288	2 SubmittersRCV001386028 RCV004815522
NM_000390.4(CHM):c.569C>G (p.Ser190Ter)	SNV Germline	ChrX:85963798	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786726	rs_1360735193	1 SubmittersRCV001388808
NM_000390.4(CHM):c.315-2A>C	SNV Germline	ChrX:85964054	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787466	rs_2147676556	1 SubmittersRCV001380099
NM_000390.4(CHM):c.224G>A (p.Trp75Ter)	SNV Germline	ChrX:85978857	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413788098	rs_1931440274	2 SubmittersRCV001386911 RCV005002013
NM_000390.4(CHM):c.49+3A>G	SNV Germline	ChrX:86047481	Pathogenic/Likely pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA2499226917	rs_2147818976	3 SubmittersRCV001381242 RCV005606820
NM_000390.4(CHM):c.1201C>T (p.Arg401Cys)	SNV Germline	ChrX:85911304	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465455	rs_762479859	2 SubmittersRCV001407452 RCV005540436
NM_000390.4(CHM):c.1099C>T (p.Arg367Trp)	SNV Germline	ChrX:85956220	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465473	rs_760000110	2 SubmittersRCV001394907 RCV003169960
NM_000390.4(CHM):c.589A>G (p.Ser197Gly)	SNV Germline	ChrX:85963778	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465559	rs_140566714	2 SubmittersRCV001453827 RCV004038529
NM_000390.4(CHM):c.205G>C (p.Val69Leu)	SNV Germline	ChrX:85978876	Conflicting classifications of pathogenicity	Condition: not provided Choroideremia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465621	rs_145088557	4 SubmittersRCV001513388 RCV001832692 RCV002564320
NM_000390.4(CHM):c.232C>T (p.Gln78Ter)	SNV Germline	ChrX:85978849	Pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413788054	rs_2147706580	1 SubmittersRCV001534620
NM_000390.4(CHM):c.856C>T (p.Gln286Ter)	SNV Germline	ChrX:85957939	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785846	rs_2147665799	2 SubmittersRCV001591916 RCV001866160
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)	SNV Germline	ChrX:85956253	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785111	rs_2147663153	2 SubmittersRCV001591917 RCV002571164
NM_000390.4(CHM):c.1370T>C (p.Leu457Pro)	SNV Germline	ChrX:85900689	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789380	rs_2148153507	1 SubmittersRCV001682657
NM_000390.4(CHM):c.1359C>T (p.Ser453=)	SNV Germline	ChrX:85900700	Conflicting classifications of pathogenicity	Condition: not provided Choroideremia	Criteria Provided Conflicting Classifications	CA517493782	rs_2148153518	3 SubmittersRCV001758189 RCV003389339
NM_000390.4(CHM):c.703-2A>G	SNV Unknown	ChrX:85958979	Pathogenic	Choroideremia Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA413786190	rs_2147667674	2 SubmittersRCV001801328 RCV005922561
NM_000390.4(CHM):c.295G>T (p.Glu99Ter)	SNV Germline	ChrX:85978786	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787804	rs_2147706381	1 SubmittersRCV002037672
NM_000390.4(CHM):c.1565C>G (p.Ser522Ter)	SNV Germline	ChrX:85879009	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787577	rs_2148126425	1 SubmittersRCV001898053
NM_000390.4(CHM):c.167T>A (p.Leu56Ter)	SNV Germline	ChrX:85981759	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788283	rs_2147712442	1 SubmittersRCV001994466
NM_000390.4(CHM):c.979C>T (p.Gln327Ter)	SNV Germline	ChrX:85956340	Pathogenic	Condition: not provided Retinal dystrophy Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413785438	rs_2147663380	3 SubmittersRCV001960690 RCV004816823 RCV006262005
NM_000390.4(CHM):c.1194T>G (p.Tyr398Ter)	SNV Germline	ChrX:85911311	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413790336	rs_1465232657	1 SubmittersRCV001943015
NM_000390.4(CHM):c.940+2T>C	SNV Germline	ChrX:85957853	Pathogenic	Condition: not provided Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA413785635	rs_2147665632	2 SubmittersRCV001946649 RCV005924376
NM_000390.4(CHM):c.910G>T (p.Glu304Ter)	SNV Germline	ChrX:85957885	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785718	rs_2147665683	1 SubmittersRCV001958643
NM_000390.4(CHM):c.700A>T (p.Lys234Ter)	SNV Germline	ChrX:85963667	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786238	rs_2147675263	1 SubmittersRCV001970053
NM_000390.4(CHM):c.1653C>A (p.Tyr551Ter)	SNV Germline	ChrX:85873169	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786873	rs_2148120627	1 SubmittersRCV001949428
NM_000390.4(CHM):c.634A>T (p.Lys212Ter)	SNV Germline	ChrX:85963733	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786488	rs_781053852	1 SubmittersRCV001944043
NM_000390.4(CHM):c.1166+2T>G	SNV Germline	ChrX:85956151	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413784698	rs_2147662902	1 SubmittersRCV001891144
NM_000390.4(CHM):c.1167-2A>G	SNV Germline	ChrX:85911340	Pathogenic	Condition: not provided Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter	CA413790407	rs_2148169033	2 SubmittersRCV001889614 RCV005924030
NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter)	SNV Germline	ChrX:85873127	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413786602	rs_764025364	2 SubmittersRCV001895107 RCV004796676
NM_000390.4(CHM):c.309T>G (p.Tyr103Ter)	SNV Germline	ChrX:85978772	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787770	rs_897855683	1 SubmittersRCV001917115
NM_000390.4(CHM):c.270G>A (p.Arg90=)	SNV Germline	ChrX:85978811	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10465617	rs_781060978	2 SubmittersRCV002095797 RCV003889046
NM_000390.4(CHM):c.1633A>G (p.Arg545Gly)	SNV Germline	ChrX:85873189	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465337	rs_370399954	2 SubmittersRCV002126749 RCV004612139
NM_000390.4(CHM):c.187C>T (p.Gln63Ter)	SNV Germline	ChrX:85981739	Pathogenic	Choroideremia Retinal dystrophy Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA413788234	rs_1931625420	3 SubmittersRCV002204557 RCV004816974 RCV005929841
NM_000390.4(CHM):c.1350-1G>A	SNV Germline	ChrX:85900710	Pathogenic/Likely pathogenic	Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413789470	rs_2148153587	2 SubmittersRCV002249357
NM_000390.4(CHM):c.437T>G (p.Leu146Ter)	SNV Germline	ChrX:85963930	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413787192	rs_2147676177	2 SubmittersRCV002249359 RCV003101341
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter)	SNV Germline	ChrX:85978772	Pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413787771	rs_897855683	1 SubmittersRCV002250934
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)	SNV Unknown	ChrX:85981797	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413788369	rs_2520327814	1 SubmittersRCV002309207
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)	SNV Germline	ChrX:85911319	Pathogenic/Likely pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413790354	rs_2520132180	2 SubmittersRCV002309390 RCV006470473
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)	SNV Unknown	ChrX:85956356	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413785503	rs_2520253188	1 SubmittersRCV002309412
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)	SNV Unknown	ChrX:85879044	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413787657	rs_2520028194	1 SubmittersRCV002310390
NM_000390.4(CHM):c.941-1G>A	SNV Germline	ChrX:85956379	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413785594	rs_1930009592	4 SubmittersRCV002470649 RCV002571498
NM_000390.4(CHM):c.1603G>T (p.Glu535Ter)	SNV Germline	ChrX:85878971	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787488	rs_2520027760	1 SubmittersRCV003041458
NM_000390.4(CHM):c.1511-1G>A	SNV Germline	ChrX:85879064	Pathogenic	Condition: not provided CHM-related disorder Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413787701	rs_2520028297	4 SubmittersRCV003041459 RCV003427550 RCV005636694
NM_000390.4(CHM):c.1403C>G (p.Ser468Ter)	SNV Germline	ChrX:85900656	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789246	rs_2520095426	1 SubmittersRCV003064743
NM_000390.4(CHM):c.1264C>T (p.Gln422Ter)	SNV Germline	ChrX:85901169	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789902	rs_2520098357	1 SubmittersRCV003050629
NM_000390.4(CHM):c.316C>T (p.Gln106Ter)	SNV Germline	ChrX:85964051	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787456	rs_2520273810	1 SubmittersRCV003064746
NM_000390.4(CHM):c.49+1G>A	SNV Germline	ChrX:86047483	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413788629	rs_886041174	2 SubmittersRCV003050631
NM_000390.4(CHM):c.315-1G>C	SNV Germline	ChrX:85964053	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787462	rs_2520273829	1 SubmittersRCV003061643
NM_000390.4(CHM):c.337G>A (p.Glu113Lys)	SNV Germline	ChrX:85964030	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10465590	rs_754548037	2 SubmittersRCV002585065 RCV004614361
NM_000390.4(CHM):c.698C>G (p.Ser233Ter)	SNV Germline	ChrX:85963669	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786241	rs_2520271810	1 SubmittersRCV003112457
NM_000390.4(CHM):c.1349+1G>T	SNV Germline	ChrX:85901083	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413789516	rs_971538918	1 SubmittersRCV002833186
NM_000390.4(CHM):c.1770+1G>C	SNV Germline	ChrX:85873051	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786196	rs_2520014009	1 SubmittersRCV002885037
NM_000390.4(CHM):c.49+1G>C	SNV Germline	ChrX:86047483	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788630	rs_886041174	1 SubmittersRCV002866096
NM_000390.4(CHM):c.561T>A (p.Cys187Ter)	SNV Germline	ChrX:85963806	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786754	rs_1930422383	1 SubmittersRCV002947922
NM_000390.4(CHM):c.315-1G>T	SNV Germline	ChrX:85964053	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787461	rs_2520273829	1 SubmittersRCV003016345
NM_000390.4(CHM):c.546T>A (p.Cys182Ter)	SNV Germline	ChrX:85963821	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786814	rs_2520272621	1 SubmittersRCV003045237
NM_000390.4(CHM):c.1244+2T>A	SNV Germline	ChrX:85911259	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413790218	rs_1927008194	1 SubmittersRCV003033189
NM_000390.4(CHM):c.575C>A (p.Ser192Ter)	SNV Germline	ChrX:85963792	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786707	rs_2520272389	1 SubmittersRCV003050256
NM_000390.4(CHM):c.949G>T (p.Glu317Ter)	SNV Germline	ChrX:85956370	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785558	rs_1433745760	1 SubmittersRCV003549134
NM_000390.4(CHM):c.50-2A>G	SNV Germline	ChrX:86027559	Likely pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA413788170	rs_2520867051	2 SubmittersRCV003549489 RCV004818364
NM_000390.4(CHM):c.1244+1G>A	SNV Germline	ChrX:85911260	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA413790221	rs_1398113537	2 SubmittersRCV003560262 RCV004818380
NM_000390.4(CHM):c.940+1G>A	SNV Germline	ChrX:85957854	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA413785639	rs_1930082852	2 SubmittersRCV003560263 RCV004818381
NM_000390.4(CHM):c.819G>T (p.Gln273His)	SNV Germline	ChrX:85958861	Pathogenic	Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA413785943	rs_2520260803	2 SubmittersRCV003560264 RCV005931460
NM_000390.4(CHM):c.20C>A (p.Ser7Ter)	SNV Germline	ChrX:86047513	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788693	rs_1357495676	1 SubmittersRCV003560266
NM_000390.4(CHM):c.126C>A (p.Tyr42Ter)	SNV Germline	ChrX:85981800	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788374	rs_1931628708	1 SubmittersRCV003568023
NM_000390.4(CHM):c.1414-1G>T	SNV Germline	ChrX:85894285	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788622	rs_2148144372	1 SubmittersRCV003563617
NM_000390.4(CHM):c.1166+1G>A	SNV Germline	ChrX:85956152	Pathogenic	Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA413784702	rs_2147662906	2 SubmittersRCV003659415 RCV006271962
NM_000390.4(CHM):c.189+1G>T	SNV Germline	ChrX:85981736	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788226	rs_1931625021	1 SubmittersRCV003659416
NM_000390.4(CHM):c.1695T>A (p.Tyr565Ter)	SNV Germline	ChrX:85873127	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413786605	rs_764025364	1 SubmittersRCV003680056
NM_000390.4(CHM):c.1484C>G (p.Ser495Ter)	SNV Germline	ChrX:85894214	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413788468	rs_132630264	1 SubmittersRCV003711896
NM_000390.4(CHM):c.971T>A (p.Leu324Ter)	SNV Germline	ChrX:85956348	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413785469	rs_1930006988	1 SubmittersRCV003721000
NM_000390.4(CHM):c.1610-2A>T	SNV Germline	ChrX:85873214	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA413787112	rs_2520014897	1 SubmittersRCV003692727
NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)	SNV Germline	ChrX:85981797	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Single Submitter	CA413788368	rs_2520327814	2 SubmittersRCV003691899 RCV004818400
NM_000390.4(CHM):c.1649T>C (p.Leu550Pro)	SNV Germline	ChrX:85873173	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA413786891	rs_2520014655	1 SubmittersRCV003890479
NM_000390.4(CHM):c.1438G>T (p.Glu480Ter)	SNV Germline	ChrX:85894260	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA413788567	rs_753991568	1 SubmittersRCV003890480
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)	SNV Germline	ChrX:85901099	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA413789585	rs_1057520629	2 SubmittersRCV003890482
NM_000390.4(CHM):c.1615G>T (p.Glu539Ter)	SNV Germline	ChrX:85873207	Pathogenic	Choroideremia	Criteria Provided Single Submitter	CA413787063	rs_2520014875	1 SubmittersRCV003991258
NM_000390.4(CHM):c.762T>G (p.Tyr254Ter)	SNV Germline	ChrX:85958918	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004814147
NM_000390.4(CHM):c.50-1G>A	SNV Germline	ChrX:86027558	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004814252
NM_000390.4(CHM):c.189+1G>A	SNV Germline	ChrX:85981736	Pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004816205 RCV005101951
NM_000390.4(CHM):c.315-1G>A	SNV Germline	ChrX:85964053	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004816217
NM_000390.4(CHM):c.1000C>T (p.Gln334Ter)	SNV Germline	ChrX:85956319	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004816224
NM_000390.4(CHM):c.535G>T (p.Glu179Ter)	SNV Germline	ChrX:85963832	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817241
NM_000390.4(CHM):c.50-1G>T	SNV Germline	ChrX:86027558	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817335
NM_000390.4(CHM):c.1745T>A (p.Leu582Ter)	SNV Germline	ChrX:85873077	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004817356
NM_000390.4(CHM):c.1350-2A>G	SNV Germline	ChrX:85900711	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004817359
NM_000390.4(CHM):c.1036G>T (p.Glu346Ter)	SNV Germline	ChrX:85956283	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004817383
NM_000390.4(CHM):c.1276A>T (p.Arg426Ter)	SNV Germline	ChrX:85901157	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004817676
NM_000390.4(CHM):c.703-1G>A	SNV Germline	ChrX:85958978	Likely pathogenic	Condition: not provided Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter			2 SubmittersRCV004598925 RCV005933684
NM_000390.4(CHM):c.1512T>A (p.Tyr504Ter)	SNV Germline	ChrX:85879062	Pathogenic	Choroideremia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004813017 RCV006479418
NM_000390.4(CHM):c.702+1G>T	SNV Germline	ChrX:85963664	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter			1 SubmittersRCV005049873
NM_000390.4(CHM):c.569C>A (p.Ser190Ter)	SNV Germline	ChrX:85963798	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005086898
NM_000390.4(CHM):c.1511-1G>T	SNV Germline	ChrX:85879064	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005140306
NM_000390.4(CHM):c.424G>T (p.Glu142Ter)	SNV Germline	ChrX:85963943	Pathogenic	Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter			2 SubmittersRCV005153627 RCV005937885
NM_000390.4(CHM):c.874A>G (p.Lys292Glu)	SNV Germline	ChrX:85957921	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter			1 SubmittersRCV005235894
NM_000390.4(CHM):c.1349+2T>C	SNV Germline	ChrX:85901082	Pathogenic	Choroideremia	Criteria Provided Single Submitter			1 SubmittersRCV005882641
NM_000390.4(CHM):c.919A>T (p.Lys307Ter)	SNV Germline	ChrX:85957876	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter			1 SubmittersRCV005884181
NM_000390.4(CHM):c.1609+2T>C	SNV Germline	ChrX:85878963	Likely pathogenic	Choroideremia Nonpapillary renal cell carcinoma	Criteria Provided Single Submitter			2 SubmittersRCV005885826 RCV005938221
NM_000390.4(CHM):c.314+2293A>C	SNV Germline	ChrX:85976474	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter			1 SubmittersRCV006699988
NM_000390.4(CHM):c.1673C>G (p.Ser558Ter)	SNV Germline	ChrX:85873149	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006495005
NM_000390.4(CHM):c.924T>A (p.Tyr308Ter)	SNV Germline	ChrX:85957871	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006501062
NM_000390.4(CHM):c.676A>T (p.Arg226Ter)	SNV Germline	ChrX:85963691	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006530172
NM_000390.4(CHM):c.1441G>T (p.Glu481Ter)	SNV Germline	ChrX:85894257	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006513621
NM_000390.4(CHM):c.340G>T (p.Glu114Ter)	SNV Germline	ChrX:85964027	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006516895
NM_000390.4(CHM):c.1511-2A>T	SNV Germline	ChrX:85879065	Likely pathogenic	Choroideremia	Criteria Provided Single Submitter			1 SubmittersRCV006706933
NM_000390.4(CHM):c.625C>T (p.Gln209Ter)	SNV Germline	ChrX:85963742	Pathogenic	Paediatric disorders	Criteria Provided Single Submitter			1 SubmittersRCV006742453

NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)

SNV
Germline

ChrX:85894214

Pathogenic

Choroideremia
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA255733

rs_132630264

3 SubmittersRCV000011899 RCV001092045 RCV004814883

NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)

SNV
Germline

ChrX:85894227

Pathogenic

Choroideremia

No Assertion Criteria Provided

CA255736

rs_132630265

1 SubmittersRCV000011900

NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)

SNV
Germline

ChrX:85894201

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Single Submitter

CA255740

rs_132630267

2 SubmittersRCV000011903 RCV003556002

NM_000390.4(CHM):c.877C>T (p.Arg293Ter)

SNV
Germline

ChrX:85957918

Pathogenic

Choroideremia
Condition: not provided
Retinal dystrophy
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA220700

rs_132630266

11 SubmittersRCV000011904 RCV000078687 RCV004814884 RCV005887433

NM_000390.4(CHM):c.1520A>G (p.His507Arg)

SNV
Germline

ChrX:85879054

Pathogenic/Likely pathogenic

Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA261228

rs_397514603

3 SubmittersRCV000033030

NM_000390.4(CHM):c.808C>T (p.Arg270Ter)

SNV
Germline

ChrX:85958872

Pathogenic

Choroideremia
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA270018

rs_527236048

9 SubmittersRCV000132595 RCV000519231 RCV003888542

NM_000390.4(CHM):c.116+1G>A

SNV
Germline

ChrX:86027490

Pathogenic/Likely pathogenic

Choroideremia
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274479

rs_786204761

9 SubmittersRCV000169622 RCV001075041 RCV001268402

NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)

SNV
Germline

ChrX:85956175

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA236357

rs_786205604

2 SubmittersRCV000171441

NM_000390.4(CHM):c.957A>G (p.Thr319=)

SNV
Germline

ChrX:85956362

Conflicting classifications of pathogenicity

Condition: not provided
Choroideremia

Criteria Provided
Conflicting Classifications

CA247527

rs_373242750

3 SubmittersRCV000180152 RCV001274745

NM_000390.4(CHM):c.1138C>T (p.Gln380Ter)

SNV
Germline

ChrX:85956181

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10603639

rs_886041181

2 SubmittersRCV000285432

NM_000390.4(CHM):c.116+1G>T

SNV
Germline

ChrX:86027490

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603643

rs_786204761

4 SubmittersRCV000354112 RCV001075589 RCV001775108

NM_000390.4(CHM):c.799C>T (p.Arg267Ter)

SNV
Germline

ChrX:85958881

Pathogenic

Condition: not provided
Retinal dystrophy
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603696

rs_886041179

7 SubmittersRCV000320612 RCV001074621 RCV001002947

NM_000390.4(CHM):c.49+1G>T

SNV
Germline

ChrX:86047483

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603699

rs_886041174

1 SubmittersRCV000313760

NM_000390.4(CHM):c.969T>A (p.Tyr323Ter)

SNV
Germline

ChrX:85956350

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603740

rs_886041180

1 SubmittersRCV000379861

NM_000390.4(CHM):c.757C>T (p.Arg253Ter)

SNV
Germline

ChrX:85958923

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
CHM-related disorder
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603741

rs_886041178

8 SubmittersRCV000265578 RCV000787565 RCV003888669 RCV004755834 RCV005863076

NM_000390.4(CHM):c.130G>T (p.Gly44Ter)

SNV
Germline

ChrX:85981796

Pathogenic

Condition: not provided
CHM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603742

rs_886041175

3 SubmittersRCV000259262 RCV003909900

NM_000390.4(CHM):c.715C>T (p.Arg239Ter)

SNV
Germline

ChrX:85958965

Pathogenic

Condition: not provided
Choroideremia
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10465535

rs_776256380

10 SubmittersRCV000302207 RCV000763635 RCV004816501

NM_000390.4(CHM):c.1244+8T>A

SNV
Germline

ChrX:85911253

Conflicting classifications of pathogenicity

Condition: not provided
Choroideremia
not specified

Criteria Provided
Conflicting Classifications

CA10465450

rs_369829791

6 SubmittersRCV000389318 RCV001274743 RCV001699334

NM_000390.4(CHM):c.1A>G (p.Met1Val)

SNV
Unknown

ChrX:86047532

Likely pathogenic

Choroideremia

No Assertion Criteria Provided

CA16042050

rs_1057516265

1 SubmittersRCV000412301

NM_000390.4(CHM):c.1213C>T (p.Gln405Ter)

SNV
Germline

ChrX:85911292

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16043301

rs_1057517715

3 SubmittersRCV000413451 RCV004816639

NM_000390.4(CHM):c.1342C>T (p.Gln448Ter)

SNV
Germline

ChrX:85901091

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043334

rs_1057517716

2 SubmittersRCV000414063

NM_000390.4(CHM):c.1019C>A (p.Ser340Ter)

SNV
Germline

ChrX:85956300

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA16043335

rs_1057517714

3 SubmittersRCV000414588 RCV006549981

NM_000390.4(CHM):c.133G>T (p.Gly45Ter)

SNV
Germline

ChrX:85981793

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16608617

rs_1057520765

1 SubmittersRCV000435190

NM_000390.4(CHM):c.1334C>G (p.Ser445Ter)

SNV
Germline

ChrX:85901099

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16608997

rs_1057520629

1 SubmittersRCV000431379

NM_000390.4(CHM):c.49+5G>A

SNV
Germline

ChrX:86047479

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16608998

rs_1057521475

3 SubmittersRCV000419936 RCV004816659

NM_000390.4(CHM):c.315-1536A>G

SNV
Germline

ChrX:85965588

Likely pathogenic

Retinal dystrophy
Abnormality of the eye
Choroideremia

Criteria Provided
Single Submitter

CA645509232

rs_1555955061

3 SubmittersRCV000504724 RCV000504914 RCV001542630

NM_000390.4(CHM):c.1771-1G>A

SNV
Germline

ChrX:85864822

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785630

rs_1556191599

2 SubmittersRCV000522740

NM_000390.4(CHM):c.1609+2T>A

SNV
Germline

ChrX:85878963

Pathogenic/Likely pathogenic

Condition: not provided
Choroideremia
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA413787470

rs_1556217900

3 SubmittersRCV000520979 RCV005606670 RCV005901173

NM_000390.4(CHM):c.820-2A>G

SNV
Germline

ChrX:85957977

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413785934

rs_1556307713

3 SubmittersRCV000521080 RCV000990895

NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)

SNV
Germline

ChrX:85911287

Pathogenic

Condition: not provided
Choroideremia
CHM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA413790282

rs_1556277815

4 SubmittersRCV000578632 RCV001775134 RCV004755977

NM_000390.4(CHM):c.1413G>A (p.Gln471=)

SNV
Germline

ChrX:85900646

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA517493738

rs_1556257626

2 SubmittersRCV000585239 RCV004817787

NM_000390.4(CHM):c.311C>G (p.Ala104Gly)

SNV
Germline

ChrX:85978770

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465613

rs_11539374

3 SubmittersRCV000591547 RCV000875812 RCV005318440

NM_000390.4(CHM):c.1771-8T>C

SNV
Germline

ChrX:85864829

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA332647629

rs_912390081

2 SubmittersRCV000592998

NM_000390.4(CHM):c.22G>T (p.Glu8Ter)

SNV
Germline

ChrX:86047511

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413788688

rs_1603288832

4 SubmittersRCV000787004 RCV001092880

NM_000390.4(CHM):c.3G>A (p.Met1Ile)

SNV
Unknown

ChrX:86047530

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA413788726

rs_1603288875

1 SubmittersRCV000787564

NM_000390.4(CHM):c.1255A>G (p.Ile419Val)

SNV
Germline

ChrX:85901178

Conflicting classifications of pathogenicity

Condition: not provided
Choroideremia
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10465422

rs_140093046

4 SubmittersRCV000878591 RCV001830930 RCV002536799 RCV003890004

NM_000390.4(CHM):c.1678A>T (p.Ile560Phe)

SNV
Germline

ChrX:85873144

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465329

rs_759127730

2 SubmittersRCV000896960 RCV002540152

NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)

SNV
Unknown

ChrX:85879001

Pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413787561

rs_1603236385

1 SubmittersRCV000990893

NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)

SNV
Germline

ChrX:85901119

Pathogenic

Choroideremia

No Assertion Criteria Provided

CA413789678

rs_1603244690

1 SubmittersRCV001002945

NM_000390.4(CHM):c.819+1G>C

SNV
Germline

ChrX:85958860

Pathogenic

Choroideremia

No Assertion Criteria Provided

CA413785941

rs_1603263147

1 SubmittersRCV001002946

NM_000390.4(CHM):c.1413+1G>T

SNV
Germline

ChrX:85900645

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413789191

rs_1926202120

3 SubmittersRCV001092046 RCV001199668

NM_000390.4(CHM):c.469C>T (p.Gln157Ter)

SNV
Germline

ChrX:85963898

Pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413787104

rs_1930431885

1 SubmittersRCV001199666

NM_000390.4(CHM):c.940G>A (p.Gly314Arg)

SNV
Germline

ChrX:85957855

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785642

rs_1930082958

2 SubmittersRCV001041242

NM_000390.4(CHM):c.126C>G (p.Tyr42Ter)

SNV
Germline

ChrX:85981800

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788373

rs_1931628708

1 SubmittersRCV001067549

NM_000390.4(CHM):c.1511-2A>G

SNV
Germline

ChrX:85879065

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787704

rs_1924597556

1 SubmittersRCV001062736

NM_000390.4(CHM):c.190-2A>G

SNV
Germline

ChrX:85978893

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413788219

rs_774941511

2 SubmittersRCV001039352

NM_000390.4(CHM):c.1245-1G>T

SNV
Germline

ChrX:85901189

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789994

rs_1926267493

1 SubmittersRCV001049376

NM_000390.4(CHM):c.1411C>T (p.Gln471Ter)

SNV
Germline

ChrX:85900648

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413789209

rs_1926202704

2 SubmittersRCV001073299 RCV002554654

NM_000390.4(CHM):c.971T>G (p.Leu324Ter)

SNV
Germline

ChrX:85956348

Pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785472

rs_1930006988

2 SubmittersRCV001074294 RCV003565449

NM_000390.4(CHM):c.653C>G (p.Ser218Ter)

SNV
Germline

ChrX:85963714

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413786414

rs_1930414140

3 SubmittersRCV001074941 RCV001862584

NM_000390.4(CHM):c.355C>T (p.Gln119Ter)

SNV
Germline

ChrX:85964012

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA413787370

rs_1930445401

1 SubmittersRCV001073539

NM_000390.4(CHM):c.1770+2T>A

SNV
Germline

ChrX:85873050

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA413786192

rs_1924181543

1 SubmittersRCV001074496

NM_000390.4(CHM):c.1349+3A>C

SNV
Germline

ChrX:85901081

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA916082497

rs_1326972655

2 SubmittersRCV001073432 RCV003558651

NM_000390.4(CHM):c.819+1G>A

SNV
Germline

ChrX:85958860

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785942

rs_1603263147

3 SubmittersRCV001075027 RCV001381012

NM_000390.4(CHM):c.189+1G>C

SNV
Germline

ChrX:85981736

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413788227

rs_1931625021

2 SubmittersRCV001074312 RCV001381241

NM_000390.4(CHM):c.49+2T>C

SNV
Germline

ChrX:86047482

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA413788626

rs_1934693393

1 SubmittersRCV001073288

NM_000390.4(CHM):c.1644G>A (p.Trp548Ter)

SNV
Germline

ChrX:85873178

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413786920

rs_1924195176

3 SubmittersRCV001092043

NM_000390.4(CHM):c.924T>G (p.Tyr308Ter)

SNV
Germline

ChrX:85957871

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785681

rs_758669355

2 SubmittersRCV001092048

NM_000390.4(CHM):c.50-1G>C

SNV
Germline

ChrX:86027558

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413788165

rs_1933881504

2 SubmittersRCV001092879

NM_000390.4(CHM):c.286C>T (p.Gln96Ter)

SNV
Germline

ChrX:85978795

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA413787826

rs_1931431411

2 SubmittersRCV001212672 RCV003890363

NM_000390.4(CHM):c.226C>T (p.Gln76Ter)

SNV
Germline

ChrX:85978855

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788086

rs_1931439989

1 SubmittersRCV001212767

NM_000390.4(CHM):c.819+2T>G

SNV
Germline

ChrX:85958859

Pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA413785937

rs_1930141997

2 SubmittersRCV001201554 RCV005908963

NM_000390.4(CHM):c.1351C>T (p.Gln451Ter)

SNV
Germline

ChrX:85900708

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789456

rs_1603244482

1 SubmittersRCV001236950

NM_000390.4(CHM):c.1273C>T (p.Gln425Ter)

SNV
Germline

ChrX:85901160

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789861

rs_1926263167

1 SubmittersRCV001235454

NM_000390.4(CHM):c.141G>A (p.Trp47Ter)

SNV
Germline

ChrX:85981785

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788342

rs_1931627432

1 SubmittersRCV001234034

NM_000390.4(CHM):c.940+1G>T

SNV
Germline

ChrX:85957854

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785637

rs_1930082852

1 SubmittersRCV001228070

NM_000390.4(CHM):c.941-1G>T

SNV
Germline

ChrX:85956379

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785591

rs_1930009592

1 SubmittersRCV001268035

NM_000390.4(CHM):c.315-4587T>A

SNV
Germline

ChrX:85968639

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1139667683

rs_1930707138

2 SubmittersRCV001268673

NM_000390.4(CHM):c.83C>G (p.Ser28Ter)

SNV
Germline

ChrX:86027524

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413787996

rs_2147791162

1 SubmittersRCV001376425

NM_000390.4(CHM):c.1609+1G>A

SNV
Germline

ChrX:85878964

Likely pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA413787473

rs_2148126338

2 SubmittersRCV001378007 RCV005912599

NM_000390.4(CHM):c.820-8T>G

SNV
Germline

ChrX:85957983

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2499226905

rs_2147665924

1 SubmittersRCV001378122

NM_000390.4(CHM):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:86047531

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788728

rs_2147819159

1 SubmittersRCV001378486

NM_000390.4(CHM):c.1670C>A (p.Ser557Ter)

SNV
Germline

ChrX:85873152

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786757

rs_775176173

1 SubmittersRCV001388433

NM_000390.4(CHM):c.1663A>T (p.Arg555Ter)

SNV
Germline

ChrX:85873159

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413786802

rs_2148120604

3 SubmittersRCV001386023 RCV005635144

NM_000390.4(CHM):c.1565C>A (p.Ser522Ter)

SNV
Germline

ChrX:85879009

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787578

rs_2148126425

1 SubmittersRCV001384982

NM_000390.4(CHM):c.1414-1G>A

SNV
Germline

ChrX:85894285

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788620

rs_2148144372

1 SubmittersRCV001386025

NM_000390.4(CHM):c.1413+1G>A

SNV
Germline

ChrX:85900645

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789195

rs_1926202120

1 SubmittersRCV001386026

NM_000390.4(CHM):c.1245-2A>G

SNV
Germline

ChrX:85901190

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789999

rs_2148154378

1 SubmittersRCV001389718

NM_000390.4(CHM):c.1234G>T (p.Glu412Ter)

SNV
Germline

ChrX:85911271

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413790246

rs_1927009899

1 SubmittersRCV001386027

NM_000390.4(CHM):c.1166+1G>C

SNV
Germline

ChrX:85956152

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413784701

rs_2147662906

2 SubmittersRCV001389181 RCV001587392

NM_000390.4(CHM):c.1153C>T (p.Gln385Ter)

SNV
Germline

ChrX:85956166

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413784762

rs_2147662919

1 SubmittersRCV001389389

NM_000390.4(CHM):c.941-2A>G

SNV
Germline

ChrX:85956380

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785598

rs_2147663521

2 SubmittersRCV001381010

NM_000390.4(CHM):c.940+1G>C

SNV
Germline

ChrX:85957854

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785638

rs_1930082852

1 SubmittersRCV001389762

NM_000390.4(CHM):c.820-1G>C

SNV
Germline

ChrX:85957976

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785931

rs_1930090887

1 SubmittersRCV001381011

NM_000390.4(CHM):c.817C>T (p.Gln273Ter)

SNV
Germline

ChrX:85958863

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA413785950

rs_2147667288

2 SubmittersRCV001386028 RCV004815522

NM_000390.4(CHM):c.569C>G (p.Ser190Ter)

SNV
Germline

ChrX:85963798

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786726

rs_1360735193

1 SubmittersRCV001388808

NM_000390.4(CHM):c.315-2A>C

SNV
Germline

ChrX:85964054

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787466

rs_2147676556

1 SubmittersRCV001380099

NM_000390.4(CHM):c.224G>A (p.Trp75Ter)

SNV
Germline

ChrX:85978857

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413788098

rs_1931440274

2 SubmittersRCV001386911 RCV005002013

NM_000390.4(CHM):c.49+3A>G

SNV
Germline

ChrX:86047481

Pathogenic/Likely pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA2499226917

rs_2147818976

3 SubmittersRCV001381242 RCV005606820

NM_000390.4(CHM):c.1201C>T (p.Arg401Cys)

SNV
Germline

ChrX:85911304

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465455

rs_762479859

2 SubmittersRCV001407452 RCV005540436

NM_000390.4(CHM):c.1099C>T (p.Arg367Trp)

SNV
Germline

ChrX:85956220

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465473

rs_760000110

2 SubmittersRCV001394907 RCV003169960

NM_000390.4(CHM):c.589A>G (p.Ser197Gly)

SNV
Germline

ChrX:85963778

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465559

rs_140566714

2 SubmittersRCV001453827 RCV004038529

NM_000390.4(CHM):c.205G>C (p.Val69Leu)

SNV
Germline

ChrX:85978876

Conflicting classifications of pathogenicity

Condition: not provided
Choroideremia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465621

rs_145088557

4 SubmittersRCV001513388 RCV001832692 RCV002564320

NM_000390.4(CHM):c.232C>T (p.Gln78Ter)

SNV
Germline

ChrX:85978849

Pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413788054

rs_2147706580

1 SubmittersRCV001534620

NM_000390.4(CHM):c.856C>T (p.Gln286Ter)

SNV
Germline

ChrX:85957939

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785846

rs_2147665799

2 SubmittersRCV001591916 RCV001866160

NM_000390.4(CHM):c.1066A>T (p.Lys356Ter)

SNV
Germline

ChrX:85956253

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785111

rs_2147663153

2 SubmittersRCV001591917 RCV002571164

NM_000390.4(CHM):c.1370T>C (p.Leu457Pro)

SNV
Germline

ChrX:85900689

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789380

rs_2148153507

1 SubmittersRCV001682657

NM_000390.4(CHM):c.1359C>T (p.Ser453=)

SNV
Germline

ChrX:85900700

Conflicting classifications of pathogenicity

Condition: not provided
Choroideremia

Criteria Provided
Conflicting Classifications

CA517493782

rs_2148153518

3 SubmittersRCV001758189 RCV003389339

NM_000390.4(CHM):c.703-2A>G

SNV
Unknown

ChrX:85958979

Pathogenic

Choroideremia
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA413786190

rs_2147667674

2 SubmittersRCV001801328 RCV005922561

NM_000390.4(CHM):c.295G>T (p.Glu99Ter)

SNV
Germline

ChrX:85978786

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787804

rs_2147706381

1 SubmittersRCV002037672

NM_000390.4(CHM):c.1565C>G (p.Ser522Ter)

SNV
Germline

ChrX:85879009

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787577

rs_2148126425

1 SubmittersRCV001898053

NM_000390.4(CHM):c.167T>A (p.Leu56Ter)

SNV
Germline

ChrX:85981759

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788283

rs_2147712442

1 SubmittersRCV001994466

NM_000390.4(CHM):c.979C>T (p.Gln327Ter)

SNV
Germline

ChrX:85956340

Pathogenic

Condition: not provided
Retinal dystrophy
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413785438

rs_2147663380

3 SubmittersRCV001960690 RCV004816823 RCV006262005

NM_000390.4(CHM):c.1194T>G (p.Tyr398Ter)

SNV
Germline

ChrX:85911311

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413790336

rs_1465232657

1 SubmittersRCV001943015

NM_000390.4(CHM):c.940+2T>C

SNV
Germline

ChrX:85957853

Pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA413785635

rs_2147665632

2 SubmittersRCV001946649 RCV005924376

NM_000390.4(CHM):c.910G>T (p.Glu304Ter)

SNV
Germline

ChrX:85957885

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785718

rs_2147665683

1 SubmittersRCV001958643

NM_000390.4(CHM):c.700A>T (p.Lys234Ter)

SNV
Germline

ChrX:85963667

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786238

rs_2147675263

1 SubmittersRCV001970053

NM_000390.4(CHM):c.1653C>A (p.Tyr551Ter)

SNV
Germline

ChrX:85873169

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786873

rs_2148120627

1 SubmittersRCV001949428

NM_000390.4(CHM):c.634A>T (p.Lys212Ter)

SNV
Germline

ChrX:85963733

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786488

rs_781053852

1 SubmittersRCV001944043

NM_000390.4(CHM):c.1166+2T>G

SNV
Germline

ChrX:85956151

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413784698

rs_2147662902

1 SubmittersRCV001891144

NM_000390.4(CHM):c.1167-2A>G

SNV
Germline

ChrX:85911340

Pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

CA413790407

rs_2148169033

2 SubmittersRCV001889614 RCV005924030

NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter)

SNV
Germline

ChrX:85873127

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413786602

rs_764025364

2 SubmittersRCV001895107 RCV004796676

NM_000390.4(CHM):c.309T>G (p.Tyr103Ter)

SNV
Germline

ChrX:85978772

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787770

rs_897855683

1 SubmittersRCV001917115

NM_000390.4(CHM):c.270G>A (p.Arg90=)

SNV
Germline

ChrX:85978811

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10465617

rs_781060978

2 SubmittersRCV002095797 RCV003889046

NM_000390.4(CHM):c.1633A>G (p.Arg545Gly)

SNV
Germline

ChrX:85873189

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465337

rs_370399954

2 SubmittersRCV002126749 RCV004612139

NM_000390.4(CHM):c.187C>T (p.Gln63Ter)

SNV
Germline

ChrX:85981739

Pathogenic

Choroideremia
Retinal dystrophy
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA413788234

rs_1931625420

3 SubmittersRCV002204557 RCV004816974 RCV005929841

NM_000390.4(CHM):c.1350-1G>A

SNV
Germline

ChrX:85900710

Pathogenic/Likely pathogenic

Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413789470

rs_2148153587

2 SubmittersRCV002249357

NM_000390.4(CHM):c.437T>G (p.Leu146Ter)

SNV
Germline

ChrX:85963930

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413787192

rs_2147676177

2 SubmittersRCV002249359 RCV003101341

NM_000390.4(CHM):c.309T>A (p.Tyr103Ter)

SNV
Germline

ChrX:85978772

Pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413787771

rs_897855683

1 SubmittersRCV002250934

NM_000390.4(CHM):c.129T>A (p.Tyr43Ter)

SNV
Unknown

ChrX:85981797

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413788369

rs_2520327814

1 SubmittersRCV002309207

NM_000390.4(CHM):c.1186G>T (p.Gly396Ter)

SNV
Germline

ChrX:85911319

Pathogenic/Likely pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413790354

rs_2520132180

2 SubmittersRCV002309390 RCV006470473

NM_000390.4(CHM):c.963T>A (p.Tyr321Ter)

SNV
Unknown

ChrX:85956356

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413785503

rs_2520253188

1 SubmittersRCV002309412

NM_000390.4(CHM):c.1530C>A (p.Cys510Ter)

SNV
Unknown

ChrX:85879044

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413787657

rs_2520028194

1 SubmittersRCV002310390

NM_000390.4(CHM):c.941-1G>A

SNV
Germline

ChrX:85956379

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413785594

rs_1930009592

4 SubmittersRCV002470649 RCV002571498

NM_000390.4(CHM):c.1603G>T (p.Glu535Ter)

SNV
Germline

ChrX:85878971

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787488

rs_2520027760

1 SubmittersRCV003041458

NM_000390.4(CHM):c.1511-1G>A

SNV
Germline

ChrX:85879064

Pathogenic

Condition: not provided
CHM-related disorder
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413787701

rs_2520028297

4 SubmittersRCV003041459 RCV003427550 RCV005636694

NM_000390.4(CHM):c.1403C>G (p.Ser468Ter)

SNV
Germline

ChrX:85900656

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789246

rs_2520095426

1 SubmittersRCV003064743

NM_000390.4(CHM):c.1264C>T (p.Gln422Ter)

SNV
Germline

ChrX:85901169

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789902

rs_2520098357

1 SubmittersRCV003050629

NM_000390.4(CHM):c.316C>T (p.Gln106Ter)

SNV
Germline

ChrX:85964051

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787456

rs_2520273810

1 SubmittersRCV003064746

NM_000390.4(CHM):c.49+1G>A

SNV
Germline

ChrX:86047483

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413788629

rs_886041174

2 SubmittersRCV003050631

NM_000390.4(CHM):c.315-1G>C

SNV
Germline

ChrX:85964053

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787462

rs_2520273829

1 SubmittersRCV003061643

NM_000390.4(CHM):c.337G>A (p.Glu113Lys)

SNV
Germline

ChrX:85964030

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10465590

rs_754548037

2 SubmittersRCV002585065 RCV004614361

NM_000390.4(CHM):c.698C>G (p.Ser233Ter)

SNV
Germline

ChrX:85963669

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786241

rs_2520271810

1 SubmittersRCV003112457

NM_000390.4(CHM):c.1349+1G>T

SNV
Germline

ChrX:85901083

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413789516

rs_971538918

1 SubmittersRCV002833186

NM_000390.4(CHM):c.1770+1G>C

SNV
Germline

ChrX:85873051

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786196

rs_2520014009

1 SubmittersRCV002885037

NM_000390.4(CHM):c.49+1G>C

SNV
Germline

ChrX:86047483

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788630

rs_886041174

1 SubmittersRCV002866096

NM_000390.4(CHM):c.561T>A (p.Cys187Ter)

SNV
Germline

ChrX:85963806

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786754

rs_1930422383

1 SubmittersRCV002947922

NM_000390.4(CHM):c.315-1G>T

SNV
Germline

ChrX:85964053

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787461

rs_2520273829

1 SubmittersRCV003016345

NM_000390.4(CHM):c.546T>A (p.Cys182Ter)

SNV
Germline

ChrX:85963821

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786814

rs_2520272621

1 SubmittersRCV003045237

NM_000390.4(CHM):c.1244+2T>A

SNV
Germline

ChrX:85911259

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413790218

rs_1927008194

1 SubmittersRCV003033189

NM_000390.4(CHM):c.575C>A (p.Ser192Ter)

SNV
Germline

ChrX:85963792

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786707

rs_2520272389

1 SubmittersRCV003050256

NM_000390.4(CHM):c.949G>T (p.Glu317Ter)

SNV
Germline

ChrX:85956370

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785558

rs_1433745760

1 SubmittersRCV003549134

NM_000390.4(CHM):c.50-2A>G

SNV
Germline

ChrX:86027559

Likely pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA413788170

rs_2520867051

2 SubmittersRCV003549489 RCV004818364

NM_000390.4(CHM):c.1244+1G>A

SNV
Germline

ChrX:85911260

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA413790221

rs_1398113537

2 SubmittersRCV003560262 RCV004818380

NM_000390.4(CHM):c.940+1G>A

SNV
Germline

ChrX:85957854

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA413785639

rs_1930082852

2 SubmittersRCV003560263 RCV004818381

NM_000390.4(CHM):c.819G>T (p.Gln273His)

SNV
Germline

ChrX:85958861

Pathogenic

Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA413785943

rs_2520260803

2 SubmittersRCV003560264 RCV005931460

NM_000390.4(CHM):c.20C>A (p.Ser7Ter)

SNV
Germline

ChrX:86047513

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788693

rs_1357495676

1 SubmittersRCV003560266

NM_000390.4(CHM):c.126C>A (p.Tyr42Ter)

SNV
Germline

ChrX:85981800

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788374

rs_1931628708

1 SubmittersRCV003568023

NM_000390.4(CHM):c.1414-1G>T

SNV
Germline

ChrX:85894285

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788622

rs_2148144372

1 SubmittersRCV003563617

NM_000390.4(CHM):c.1166+1G>A

SNV
Germline

ChrX:85956152

Pathogenic

Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA413784702

rs_2147662906

2 SubmittersRCV003659415 RCV006271962

NM_000390.4(CHM):c.189+1G>T

SNV
Germline

ChrX:85981736

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788226

rs_1931625021

1 SubmittersRCV003659416

NM_000390.4(CHM):c.1695T>A (p.Tyr565Ter)

SNV
Germline

ChrX:85873127

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413786605

rs_764025364

1 SubmittersRCV003680056

NM_000390.4(CHM):c.1484C>G (p.Ser495Ter)

SNV
Germline

ChrX:85894214

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413788468

rs_132630264

1 SubmittersRCV003711896

NM_000390.4(CHM):c.971T>A (p.Leu324Ter)

SNV
Germline

ChrX:85956348

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413785469

rs_1930006988

1 SubmittersRCV003721000

NM_000390.4(CHM):c.1610-2A>T

SNV
Germline

ChrX:85873214

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA413787112

rs_2520014897

1 SubmittersRCV003692727

NM_000390.4(CHM):c.129T>G (p.Tyr43Ter)

SNV
Germline

ChrX:85981797

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Single Submitter

CA413788368

rs_2520327814

2 SubmittersRCV003691899 RCV004818400

NM_000390.4(CHM):c.1649T>C (p.Leu550Pro)

SNV
Germline

ChrX:85873173

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA413786891

rs_2520014655

1 SubmittersRCV003890479

NM_000390.4(CHM):c.1438G>T (p.Glu480Ter)

SNV
Germline

ChrX:85894260

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA413788567

rs_753991568

1 SubmittersRCV003890480

NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)

SNV
Germline

ChrX:85901099

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA413789585

rs_1057520629

2 SubmittersRCV003890482

NM_000390.4(CHM):c.1615G>T (p.Glu539Ter)

SNV
Germline

ChrX:85873207

Pathogenic

Choroideremia

Criteria Provided
Single Submitter

CA413787063

rs_2520014875

1 SubmittersRCV003991258

NM_000390.4(CHM):c.762T>G (p.Tyr254Ter)

SNV
Germline

ChrX:85958918

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004814147

NM_000390.4(CHM):c.50-1G>A

SNV
Germline

ChrX:86027558

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004814252

NM_000390.4(CHM):c.189+1G>A

SNV
Germline

ChrX:85981736

Pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004816205 RCV005101951

NM_000390.4(CHM):c.315-1G>A

SNV
Germline

ChrX:85964053

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004816217

NM_000390.4(CHM):c.1000C>T (p.Gln334Ter)

SNV
Germline

ChrX:85956319

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004816224

NM_000390.4(CHM):c.535G>T (p.Glu179Ter)

SNV
Germline

ChrX:85963832

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817241

NM_000390.4(CHM):c.50-1G>T

SNV
Germline

ChrX:86027558

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817335

NM_000390.4(CHM):c.1745T>A (p.Leu582Ter)

SNV
Germline

ChrX:85873077

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004817356

NM_000390.4(CHM):c.1350-2A>G

SNV
Germline

ChrX:85900711

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004817359

NM_000390.4(CHM):c.1036G>T (p.Glu346Ter)

SNV
Germline

ChrX:85956283

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004817383

NM_000390.4(CHM):c.1276A>T (p.Arg426Ter)

SNV
Germline

ChrX:85901157

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004817676

NM_000390.4(CHM):c.703-1G>A

SNV
Germline

ChrX:85958978

Likely pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV004598925 RCV005933684

NM_000390.4(CHM):c.1512T>A (p.Tyr504Ter)

SNV
Germline

ChrX:85879062

Pathogenic

Choroideremia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004813017 RCV006479418

NM_000390.4(CHM):c.702+1G>T

SNV
Germline

ChrX:85963664

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

1 SubmittersRCV005049873

NM_000390.4(CHM):c.569C>A (p.Ser190Ter)

SNV
Germline

ChrX:85963798

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005086898

NM_000390.4(CHM):c.1511-1G>T

SNV
Germline

ChrX:85879064

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005140306

NM_000390.4(CHM):c.424G>T (p.Glu142Ter)

SNV
Germline

ChrX:85963943

Pathogenic

Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

2 SubmittersRCV005153627 RCV005937885

NM_000390.4(CHM):c.874A>G (p.Lys292Glu)

SNV
Germline

ChrX:85957921

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

1 SubmittersRCV005235894

NM_000390.4(CHM):c.1349+2T>C

SNV
Germline

ChrX:85901082

Pathogenic

Choroideremia

Criteria Provided
Single Submitter

1 SubmittersRCV005882641

NM_000390.4(CHM):c.919A>T (p.Lys307Ter)

SNV
Germline

ChrX:85957876

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

1 SubmittersRCV005884181

NM_000390.4(CHM):c.1609+2T>C

SNV
Germline

ChrX:85878963

Likely pathogenic

Choroideremia
Nonpapillary renal cell carcinoma

Criteria Provided
Single Submitter

2 SubmittersRCV005885826 RCV005938221

NM_000390.4(CHM):c.314+2293A>C

SNV
Germline

ChrX:85976474

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

1 SubmittersRCV006699988

NM_000390.4(CHM):c.1673C>G (p.Ser558Ter)

SNV
Germline

ChrX:85873149

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006495005

NM_000390.4(CHM):c.924T>A (p.Tyr308Ter)

SNV
Germline

ChrX:85957871

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006501062

NM_000390.4(CHM):c.676A>T (p.Arg226Ter)

SNV
Germline

ChrX:85963691

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006530172

NM_000390.4(CHM):c.1441G>T (p.Glu481Ter)

SNV
Germline

ChrX:85894257

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006513621

NM_000390.4(CHM):c.340G>T (p.Glu114Ter)

SNV
Germline

ChrX:85964027

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006516895

NM_000390.4(CHM):c.1511-2A>T

SNV
Germline

ChrX:85879065

Likely pathogenic

Choroideremia

Criteria Provided
Single Submitter

1 SubmittersRCV006706933

NM_000390.4(CHM):c.625C>T (p.Gln209Ter)

SNV
Germline

ChrX:85963742

Pathogenic

Paediatric disorders

Criteria Provided
Single Submitter

1 SubmittersRCV006742453