Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu)	SNV Germline	Chr10:84200638	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA235798	rs_763399323	1 SubmittersRCV000171179
NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter)	SNV Germline	Chr10:84211698	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA235800	rs_786205459	1 SubmittersRCV000171180
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)	SNV Germline	Chr10:84194761	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 15 Retinitis pigmentosa CDHR1-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA238994	rs_794726954	7 SubmittersRCV000173546 RCV001589051 RCV001723745 RCV004748622 RCV004816255
NM_033100.4(CDHR1):c.526-7C>G	SNV Germline	Chr10:84201800	Conflicting classifications of pathogenicity	Condition: not provided Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 15 CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA247354	rs_190906755	7 SubmittersRCV000179989 RCV000373058 RCV000625428 RCV003917677
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)	SNV Germline	Chr10:84213176	Conflicting classifications of pathogenicity	not specified Cone-rod dystrophy 15 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5580079	rs_137876961	6 SubmittersRCV000238891 RCV000380865 RCV000512914 RCV004816453
NM_033100.4(CDHR1):c.240C>T (p.Val80=)	SNV Germline	Chr10:84196593	Conflicting classifications of pathogenicity	not specified Cone-Rod Dystrophy, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA5579469	rs_11593005	6 SubmittersRCV000243034 RCV000270121 RCV000962041
NM_033100.4(CDHR1):c.863-1G>A	SNV Germline	Chr10:84205826	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 15	Criteria Provided Multiple Submitters No Conflicts	CA10603072	rs_886041900	3 SubmittersRCV000376892 RCV001376330
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)	SNV Germline	Chr10:84214217	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5580161	rs_141706561	6 SubmittersRCV000279579 RCV000415999 RCV004816496
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)	SNV Germline	Chr10:84214270	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA5580180	rs_150969538	4 SubmittersRCV000266540 RCV000395283
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu)	SNV Germline	Chr10:84204576	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA5579725	rs_543254581	3 SubmittersRCV000406664
NM_033100.4(CDHR1):c.159C>A (p.His53Gln)	SNV Germline	Chr10:84196512	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA5579449	rs_12781048	3 SubmittersRCV000314636 RCV001510899
NM_033100.4(CDHR1):c.526-14C>A	SNV Germline	Chr10:84201793	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579576	rs_745955360	2 SubmittersRCV000334640 RCV002520640
NM_033100.4(CDHR1):c.964-10C>T	SNV Germline	Chr10:84208164	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA10629267	rs_886047327	2 SubmittersRCV000267510 RCV000895973
NM_033100.4(CDHR1):c.1050G>A (p.Pro350=)	SNV Germline	Chr10:84208260	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579822	rs_199721776	2 SubmittersRCV000377413 RCV003765767
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)	SNV Germline	Chr10:84208281	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5579830	rs_146588811	5 SubmittersRCV000625430 RCV000415766 RCV001699435
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)	SNV Germline	Chr10:84208343	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 15 Condition: not provided Inborn genetic diseases CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5579845	rs_140621272	8 SubmittersRCV000382785 RCV000660387 RCV000415935 RCV002522171 RCV004748713
NM_033100.4(CDHR1):c.1320+11C>T	SNV Germline	Chr10:84208892	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA10629276	rs_201940855	2 SubmittersRCV000352706 RCV001452796
NM_033100.4(CDHR1):c.1470C>T (p.Ser490=)	SNV Germline	Chr10:84211150	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579945	rs_150577739	2 SubmittersRCV000299812 RCV001522738
NM_033100.4(CDHR1):c.1854C>T (p.Asn618=)	SNV Germline	Chr10:84213162	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5580072	rs_373373894	2 SubmittersRCV000272010 RCV001442806
NM_033100.4(CDHR1):c.2001C>T (p.Ser667=)	SNV Germline	Chr10:84213309	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5580108	rs_139302633	2 SubmittersRCV000386691 RCV001393114
NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr)	SNV Germline	Chr10:84195556	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5579410	rs_138182270	3 SubmittersRCV000401487 RCV000980809 RCV003910100
NM_033100.4(CDHR1):c.152-9T>C	SNV Germline	Chr10:84196496	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579444	rs_754726772	2 SubmittersRCV000275893 RCV000919471
NM_033100.4(CDHR1):c.159C>T (p.His53=)	SNV Germline	Chr10:84196512	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Condition: not provided CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5579450	rs_12781048	3 SubmittersRCV000362386 RCV001471966 RCV004748710
NM_033100.4(CDHR1):c.547G>A (p.Val183Met)	SNV Germline	Chr10:84201828	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579584	rs_142109115	2 SubmittersRCV000338304 RCV001034419
NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile)	SNV Germline	Chr10:84211112	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5579935	rs_756095042	3 SubmittersRCV000313127 RCV001213146 RCV002520641
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr)	SNV Germline	Chr10:84214514	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Condition: not provided Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA5580249	rs_201515900	3 SubmittersRCV000333669 RCV000970405 RCV002056147
NM_033100.4(CDHR1):c.408C>T (p.Ile136=)	SNV Germline	Chr10:84199091	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA5579528	rs_148125234	2 SubmittersRCV000264133 RCV000902789
NM_033100.4(CDHR1):c.700G>A (p.Val234Ile)	SNV Germline	Chr10:84203040	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5579649	rs_148356887	5 SubmittersRCV000345248 RCV001363674 RCV001073729
NM_033100.4(CDHR1):c.869A>G (p.Asp290Gly)	SNV Germline	Chr10:84205833	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579764	rs_574920135	2 SubmittersRCV000316967 RCV002056146
NM_033100.4(CDHR1):c.1206C>T (p.Pro402=)	SNV Germline	Chr10:84208767	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579880	rs_149181127	2 SubmittersRCV000288325 RCV000891270
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)	SNV Germline	Chr10:84211141	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA5579943	rs_141787212	5 SubmittersRCV000732115 RCV001699349 RCV000625431
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)	SNV Germline	Chr10:84211151	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5579946	rs_138638103	4 SubmittersRCV000355168 RCV000594016 RCV003165819
NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr)	SNV Germline	Chr10:84213157	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5580070	rs_141250715	3 SubmittersRCV000366579 RCV001220118
NM_033100.4(CDHR1):c.2041-15G>A	SNV Germline	Chr10:84214067	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA5580129	rs_61867367	3 SubmittersRCV000337935 RCV001512930
NM_033100.4(CDHR1):c.2367G>A (p.Pro789=)	SNV Germline	Chr10:84214408	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5580206	rs_150097621	3 SubmittersRCV000359128 RCV000940535
NM_033100.4(CDHR1):c.640-14C>T	SNV Germline	Chr10:84202966	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579630	rs_376451005	2 SubmittersRCV000309133 RCV002056145
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	SNV Germline	Chr10:84203123	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Condition: not provided Cone-rod dystrophy 15 Retinal dystrophy not specified Retinitis pigmentosa 65 Retinitis pigmentosa CDHR1-related disorder Macular dystrophy, retinal, 5 Optic atrophy	Criteria Provided Conflicting Classifications	CA5579673	rs_147346345	20 SubmittersRCV000369498 RCV000487554 RCV000625429 RCV000787811 RCV000825304 RCV003221895 RCV001723886 RCV004748711 RCV003221896 RCV004816533
NM_033100.4(CDHR1):c.1344C>T (p.Thr448=)	SNV Germline	Chr10:84211024	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 not specified Condition: not provided CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5579916	rs_542195636	5 SubmittersRCV000397236 RCV001700044 RCV001511251 RCV003910101
NM_033100.4(CDHR1):c.1464C>T (p.Gly488=)	SNV Germline	Chr10:84211144	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579944	rs_193142630	2 SubmittersRCV000400771 RCV001481104
NM_033100.4(CDHR1):c.1553+6T>C	SNV Germline	Chr10:84211721	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5579972	rs_199567321	5 SubmittersRCV000306123 RCV000494444 RCV004816534
NM_033100.4(CDHR1):c.1873C>G (p.His625Asp)	SNV Germline	Chr10:84213181	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5580080	rs_149043166	3 SubmittersRCV000295691 RCV000897364 RCV003910102
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly)	SNV Unknown	Chr10:84211128	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided	CA377376890	rs_1554857529	1 SubmittersRCV000504869
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)	SNV Germline	Chr10:84211689	Pathogenic	Retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA377377258	rs_1477733493	2 SubmittersRCV000504623 RCV001857214
NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp)	SNV Germline	Chr10:84208342	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA5579843	rs_146783539	2 SubmittersRCV002067009 RCV000754589
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile)	SNV Germline	Chr10:84203029	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5579644	rs_141173656	5 SubmittersRCV000761736 RCV004817975
NM_033100.4(CDHR1):c.1792G>A (p.Glu598Lys)	SNV Germline	Chr10:84213100	Conflicting classifications of pathogenicity	Condition: not provided CDHR1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5580060	rs_114754869	6 SubmittersRCV000904366 RCV004749526 RCV005532792
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr)	SNV Germline	Chr10:84201837	Conflicting classifications of pathogenicity	Condition: not provided CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5579587	rs_147420731	5 SubmittersRCV000996127 RCV003906134
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)	SNV Germline	Chr10:84194761	Pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA377369066	rs_794726954	1 SubmittersRCV001002928
NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp)	SNV Germline	Chr10:84211053	Conflicting classifications of pathogenicity	Cone-rod dystrophy Condition: not provided Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA5579924	rs_760942217	3 SubmittersRCV002267754 RCV003769393 RCV005253674
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)	SNV Germline	Chr10:84211061	Pathogenic	Condition: not provided Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA377376746	rs_1589306127	4 SubmittersRCV001268819 RCV002267755
NM_033100.4(CDHR1):c.1485+2T>G	SNV Germline	Chr10:84211167	Pathogenic	Condition: not provided Cone-rod dystrophy Cone-rod dystrophy 15	Criteria Provided Single Submitter	CA377377031	rs_767366723	3 SubmittersRCV001389461 RCV002267756 RCV003159169
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)	SNV Germline	Chr10:84212376	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5580034	rs_754321329	3 SubmittersRCV001034280 RCV002552051
NM_033100.4(CDHR1):c.838C>T (p.Arg280Ter)	SNV Germline	Chr10:84204581	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5579729	rs_191858417	1 SubmittersRCV001047268
NM_033100.4(CDHR1):c.525+1G>A	SNV Germline	Chr10:84200688	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5579559	rs_373412516	1 SubmittersRCV001040273
NM_033100.4(CDHR1):c.1485+2T>C	SNV Germline	Chr10:84211167	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA210386500	rs_767366723	2 SubmittersRCV001051276 RCV001073372
NM_033100.4(CDHR1):c.55+1G>A	SNV Germline	Chr10:84194816	Likely pathogenic	Retinal dystrophy CDHR1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210376402	rs_547198427	3 SubmittersRCV001073921 RCV003393836 RCV001377811
NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu)	SNV Germline	Chr10:84194804	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided CDHR1-related disorder	Criteria Provided Conflicting Classifications	CA5579379	rs_74903725	3 SubmittersRCV001108871 RCV001520346 RCV003906206
NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys)	SNV Germline	Chr10:84205902	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Inborn genetic diseases CDHR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5579779	rs_144058677	4 SubmittersRCV001105753 RCV002556080 RCV003918685 RCV001521334
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)	SNV Germline	Chr10:84208748	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5579877	rs_145353541	4 SubmittersRCV001106870 RCV001201528 RCV004813771
NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val)	SNV Germline	Chr10:84211034	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA5579918	rs_112631930	3 SubmittersRCV001106872 RCV001396332 RCV004813772
NM_033100.4(CDHR1):c.1848C>T (p.Pro616=)	SNV Germline	Chr10:84213156	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5580069	rs_147920893	2 SubmittersRCV001103923 RCV001469956
NM_033100.4(CDHR1):c.784-4C>T	SNV Germline	Chr10:84204523	Conflicting classifications of pathogenicity	Cone-rod dystrophy 15 Condition: not provided	Criteria Provided Conflicting Classifications	CA5579704	rs_768106524	2 SubmittersRCV001103810 RCV002069724
NM_033100.4(CDHR1):c.686C>T (p.Thr229Ile)	SNV Germline	Chr10:84203026	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5579643	rs_146547564	2 SubmittersRCV001219451 RCV002562997
NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr)	SNV Germline	Chr10:84211133	Conflicting classifications of pathogenicity	Condition: not provided Optic atrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5579940	rs_532268197	3 SubmittersRCV001206100 RCV004813859 RCV002561215
NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser)	SNV Germline	Chr10:84201843	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA5579591	rs_748412274	2 SubmittersRCV001234341 RCV005367780
NM_033100.4(CDHR1):c.1168-1G>C	SNV Germline	Chr10:84208728	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377375278	rs_1395276529	1 SubmittersRCV001227878
NM_033100.4(CDHR1):c.2041-2A>C	SNV Germline	Chr10:84214080	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5580134	rs_763740152	1 SubmittersRCV001371052
NM_033100.4(CDHR1):c.640-2A>T	SNV Germline	Chr10:84202978	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377372530	rs_2132807272	1 SubmittersRCV001377129
NM_033100.4(CDHR1):c.355G>T (p.Glu119Ter)	SNV Germline	Chr10:84199038	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377370952	rs_531420059	1 SubmittersRCV001380575
NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter)	SNV Germline	Chr10:84208210	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377374365	rs_1340364290	1 SubmittersRCV001383463
NM_033100.4(CDHR1):c.1855G>T (p.Val619Leu)	SNV Germline	Chr10:84213163	Conflicting classifications of pathogenicity	Condition: not provided CDHR1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5580073	rs_115388824	4 SubmittersRCV001409094 RCV004749684 RCV005533001
NM_033100.4(CDHR1):c.1328C>T (p.Ala443Val)	SNV Germline	Chr10:84211008	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5579912	rs_147726523	2 SubmittersRCV001425958 RCV002555517
NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter)	SNV Germline	Chr10:84203108	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377372792	rs_769081286	2 SubmittersRCV001543447
NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter)	SNV Germline	Chr10:84208780	Pathogenic	Condition: not provided Cone-rod dystrophy 15	Criteria Provided Multiple Submitters No Conflicts	CA210383496	rs_373978786	2 SubmittersRCV001882713 RCV001591909
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)	SNV Germline	Chr10:84205892	Likely pathogenic	Retinitis pigmentosa Cone-rod dystrophy 15 Macular dystrophy, retinal, 5	Criteria Provided Single Submitter	CA377373883	rs_1842216995	2 SubmittersRCV001724851 RCV002227535 RCV003222341
NM_033100.4(CDHR1):c.523C>T (p.Gln175Ter)	SNV Germline	Chr10:84200685	Pathogenic	Condition: not provided	No Assertion Criteria Provided	CA377371653	rs_1486109432	2 SubmittersRCV001723338
NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter)	SNV Germline	Chr10:84212369	Pathogenic/Likely pathogenic	Cone-rod dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5580032	rs_142980820	2 SubmittersRCV004017867 RCV001868854
NM_033100.4(CDHR1):c.56-1G>A	SNV Germline	Chr10:84195493	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 15	Criteria Provided Multiple Submitters No Conflicts	CA5579393	rs_751972593	2 SubmittersRCV002022338 RCV005232754
NM_033100.4(CDHR1):c.525+1G>T	SNV Germline	Chr10:84200688	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5579558	rs_373412516	1 SubmittersRCV001950859
NM_033100.4(CDHR1):c.1167+2T>C	SNV Germline	Chr10:84208379	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377375232	rs_2132820982	1 SubmittersRCV002005402
NM_033100.4(CDHR1):c.1675G>A (p.Val559Ile)	SNV Germline	Chr10:84212300	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5580016	rs_778340853	2 SubmittersRCV002027479 RCV005535255
NM_033100.4(CDHR1):c.1511G>A (p.Trp504Ter)	SNV Germline	Chr10:84211673	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377377180	rs_74902839	1 SubmittersRCV002002349
NM_033100.4(CDHR1):c.526-1G>A	SNV Germline	Chr10:84201806	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377372158	rs_1842129715	1 SubmittersRCV002034913
NM_033100.4(CDHR1):c.1516G>T (p.Glu506Ter)	SNV Germline	Chr10:84211678	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377377204	rs_547812313	1 SubmittersRCV001864635
NM_033100.4(CDHR1):c.1783-2A>G	SNV Germline	Chr10:84213089	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377378237	rs_2132833489	1 SubmittersRCV001988301
NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala)	SNV Germline	Chr10:84212345	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Cone-rod dystrophy 15	Criteria Provided Conflicting Classifications	CA377378102	rs_746501731	3 SubmittersRCV001972463 RCV004816826 RCV005361871
NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter)	SNV Germline	Chr10:84194778	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377369104	rs_1220602138	1 SubmittersRCV001963280
NM_033100.4(CDHR1):c.784-1G>C	SNV Germline	Chr10:84204526	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5579707	rs_777305743	1 SubmittersRCV001977000
NM_033100.4(CDHR1):c.355G>A (p.Glu119Lys)	SNV Germline	Chr10:84199038	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5579526	rs_531420059	2 SubmittersRCV002071225 RCV002552347
NM_033100.4(CDHR1):c.964-1G>C	SNV Germline	Chr10:84208173	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA5579804	rs_773704365	1 SubmittersRCV002613155
NM_033100.4(CDHR1):c.297+1G>A	SNV Germline	Chr10:84196651	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377370502	rs_1464226905	1 SubmittersRCV002597201
NM_033100.4(CDHR1):c.2038G>T (p.Glu680Ter)	SNV Germline	Chr10:84213346	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377378781	rs_2492544964	1 SubmittersRCV002828937
NM_033100.4(CDHR1):c.2455A>G (p.Thr819Ala)	SNV Germline	Chr10:84214496	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5580239	rs_747960015	2 SubmittersRCV002933047 RCV002933046
NM_033100.4(CDHR1):c.1632C>A (p.Tyr544Ter)	SNV Germline	Chr10:84212257	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377377908	rs_1480934668	1 SubmittersRCV002971468
NM_033100.4(CDHR1):c.439-1G>A	SNV Germline	Chr10:84200600	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA210379546	rs_916319156	1 SubmittersRCV003054108
NM_033100.4(CDHR1):c.1168-1G>A	SNV Germline	Chr10:84208728	Pathogenic	Retinitis pigmentosa 65	No Assertion Criteria Provided	CA377375282	rs_1395276529	1 SubmittersRCV003159257
NM_033100.4(CDHR1):c.2040+5G>T	SNV Germline	Chr10:84213353	Pathogenic	Macular dystrophy, retinal, 5	No Assertion Criteria Provided	CA594886783	rs_1446751435	1 SubmittersRCV003159259
NM_033100.4(CDHR1):c.862+1G>T	SNV Germline	Chr10:84204606	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377373546	rs_2492505338	1 SubmittersRCV003569269
NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)	SNV Germline	Chr10:84194777	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377369100	rs_1461691786	1 SubmittersRCV003668016
NM_033100.4(CDHR1):c.2041-1G>C	SNV Germline	Chr10:84214081	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377378941	rs_2492548014	1 SubmittersRCV003704687
NM_033100.4(CDHR1):c.438+1G>A	SNV Germline	Chr10:84199122	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377371131	rs_2492479034	1 SubmittersRCV003727115
NM_033100.4(CDHR1):c.1729G>T (p.Gly577Ter)	SNV Germline	Chr10:84212354	Likely pathogenic	Cone-rod dystrophy 15	No Assertion Criteria Provided			1 SubmittersRCV004691597
NM_033100.4(CDHR1):c.1782+1G>A	SNV Germline	Chr10:84212408	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA377378230	rs_2492539884	1 SubmittersRCV003819216
NM_033100.4(CDHR1):c.863-2A>G	SNV Germline	Chr10:84205825	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004818700
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)	SNV Unknown	Chr10:84204592	Pathogenic	Cone-rod dystrophy 12	Criteria Provided Single Submitter			1 SubmittersRCV004759477
NM_033100.4(CDHR1):c.1486G>C (p.Ala496Pro)	SNV Germline	Chr10:84211648	Likely pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter			1 SubmittersRCV005419812
NM_033100.4(CDHR1):c.152-2A>G	SNV Germline	Chr10:84196503	Likely pathogenic	Cone-rod dystrophy 15	Criteria Provided Single Submitter			1 SubmittersRCV005051215
NM_033100.4(CDHR1):c.1168-2A>G	SNV Germline	Chr10:84208727	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005118068

NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu)

SNV
Germline

Chr10:84200638

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA235798

rs_763399323

1 SubmittersRCV000171179

NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter)

SNV
Germline

Chr10:84211698

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA235800

rs_786205459

1 SubmittersRCV000171180

NM_033100.4(CDHR1):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:84194761

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 15
Retinitis pigmentosa
CDHR1-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA238994

rs_794726954

7 SubmittersRCV000173546 RCV001589051 RCV001723745 RCV004748622 RCV004816255

NM_033100.4(CDHR1):c.526-7C>G

SNV
Germline

Chr10:84201800

Conflicting classifications of pathogenicity

Condition: not provided
Cone-Rod Dystrophy, Recessive
Cone-rod dystrophy 15
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA247354

rs_190906755

7 SubmittersRCV000179989 RCV000373058 RCV000625428 RCV003917677

NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)

SNV
Germline

Chr10:84213176

Conflicting classifications of pathogenicity

not specified
Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5580079

rs_137876961

6 SubmittersRCV000238891 RCV000380865 RCV000512914 RCV004816453

NM_033100.4(CDHR1):c.240C>T (p.Val80=)

SNV
Germline

Chr10:84196593

Conflicting classifications of pathogenicity

not specified
Cone-Rod Dystrophy, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579469

rs_11593005

6 SubmittersRCV000243034 RCV000270121 RCV000962041

NM_033100.4(CDHR1):c.863-1G>A

SNV
Germline

Chr10:84205826

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Multiple Submitters
No Conflicts

CA10603072

rs_886041900

3 SubmittersRCV000376892 RCV001376330

NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)

SNV
Germline

Chr10:84214217

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5580161

rs_141706561

6 SubmittersRCV000279579 RCV000415999 RCV004816496

NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)

SNV
Germline

Chr10:84214270

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA5580180

rs_150969538

4 SubmittersRCV000266540 RCV000395283

NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu)

SNV
Germline

Chr10:84204576

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579725

rs_543254581

3 SubmittersRCV000406664

NM_033100.4(CDHR1):c.159C>A (p.His53Gln)

SNV
Germline

Chr10:84196512

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579449

rs_12781048

3 SubmittersRCV000314636 RCV001510899

NM_033100.4(CDHR1):c.526-14C>A

SNV
Germline

Chr10:84201793

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579576

rs_745955360

2 SubmittersRCV000334640 RCV002520640

NM_033100.4(CDHR1):c.964-10C>T

SNV
Germline

Chr10:84208164

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629267

rs_886047327

2 SubmittersRCV000267510 RCV000895973

NM_033100.4(CDHR1):c.1050G>A (p.Pro350=)

SNV
Germline

Chr10:84208260

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579822

rs_199721776

2 SubmittersRCV000377413 RCV003765767

NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)

SNV
Germline

Chr10:84208281

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5579830

rs_146588811

5 SubmittersRCV000625430 RCV000415766 RCV001699435

NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)

SNV
Germline

Chr10:84208343

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5579845

rs_140621272

8 SubmittersRCV000382785 RCV000660387 RCV000415935 RCV002522171 RCV004748713

NM_033100.4(CDHR1):c.1320+11C>T

SNV
Germline

Chr10:84208892

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629276

rs_201940855

2 SubmittersRCV000352706 RCV001452796

NM_033100.4(CDHR1):c.1470C>T (p.Ser490=)

SNV
Germline

Chr10:84211150

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579945

rs_150577739

2 SubmittersRCV000299812 RCV001522738

NM_033100.4(CDHR1):c.1854C>T (p.Asn618=)

SNV
Germline

Chr10:84213162

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5580072

rs_373373894

2 SubmittersRCV000272010 RCV001442806

NM_033100.4(CDHR1):c.2001C>T (p.Ser667=)

SNV
Germline

Chr10:84213309

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5580108

rs_139302633

2 SubmittersRCV000386691 RCV001393114

NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr)

SNV
Germline

Chr10:84195556

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5579410

rs_138182270

3 SubmittersRCV000401487 RCV000980809 RCV003910100

NM_033100.4(CDHR1):c.152-9T>C

SNV
Germline

Chr10:84196496

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579444

rs_754726772

2 SubmittersRCV000275893 RCV000919471

NM_033100.4(CDHR1):c.159C>T (p.His53=)

SNV
Germline

Chr10:84196512

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5579450

rs_12781048

3 SubmittersRCV000362386 RCV001471966 RCV004748710

NM_033100.4(CDHR1):c.547G>A (p.Val183Met)

SNV
Germline

Chr10:84201828

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579584

rs_142109115

2 SubmittersRCV000338304 RCV001034419

NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile)

SNV
Germline

Chr10:84211112

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5579935

rs_756095042

3 SubmittersRCV000313127 RCV001213146 RCV002520641

NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr)

SNV
Germline

Chr10:84214514

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA5580249

rs_201515900

3 SubmittersRCV000333669 RCV000970405 RCV002056147

NM_033100.4(CDHR1):c.408C>T (p.Ile136=)

SNV
Germline

Chr10:84199091

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579528

rs_148125234

2 SubmittersRCV000264133 RCV000902789

NM_033100.4(CDHR1):c.700G>A (p.Val234Ile)

SNV
Germline

Chr10:84203040

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5579649

rs_148356887

5 SubmittersRCV000345248 RCV001363674 RCV001073729

NM_033100.4(CDHR1):c.869A>G (p.Asp290Gly)

SNV
Germline

Chr10:84205833

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579764

rs_574920135

2 SubmittersRCV000316967 RCV002056146

NM_033100.4(CDHR1):c.1206C>T (p.Pro402=)

SNV
Germline

Chr10:84208767

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579880

rs_149181127

2 SubmittersRCV000288325 RCV000891270

NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)

SNV
Germline

Chr10:84211141

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA5579943

rs_141787212

5 SubmittersRCV000732115 RCV001699349 RCV000625431

NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)

SNV
Germline

Chr10:84211151

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5579946

rs_138638103

4 SubmittersRCV000355168 RCV000594016 RCV003165819

NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr)

SNV
Germline

Chr10:84213157

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5580070

rs_141250715

3 SubmittersRCV000366579 RCV001220118

NM_033100.4(CDHR1):c.2041-15G>A

SNV
Germline

Chr10:84214067

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5580129

rs_61867367

3 SubmittersRCV000337935 RCV001512930

NM_033100.4(CDHR1):c.2367G>A (p.Pro789=)

SNV
Germline

Chr10:84214408

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5580206

rs_150097621

3 SubmittersRCV000359128 RCV000940535

NM_033100.4(CDHR1):c.640-14C>T

SNV
Germline

Chr10:84202966

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579630

rs_376451005

2 SubmittersRCV000309133 RCV002056145

NM_033100.4(CDHR1):c.783G>A (p.Pro261=)

SNV
Germline

Chr10:84203123

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Condition: not provided
Cone-rod dystrophy 15
Retinal dystrophy
not specified
Retinitis pigmentosa 65
Retinitis pigmentosa
CDHR1-related disorder
Macular dystrophy, retinal, 5
Optic atrophy

Criteria Provided
Conflicting Classifications

CA5579673

rs_147346345

20 SubmittersRCV000369498 RCV000487554 RCV000625429 RCV000787811 RCV000825304 RCV003221895 RCV001723886 RCV004748711 RCV003221896 RCV004816533

NM_033100.4(CDHR1):c.1344C>T (p.Thr448=)

SNV
Germline

Chr10:84211024

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
not specified
Condition: not provided
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5579916

rs_542195636

5 SubmittersRCV000397236 RCV001700044 RCV001511251 RCV003910101

NM_033100.4(CDHR1):c.1464C>T (p.Gly488=)

SNV
Germline

Chr10:84211144

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579944

rs_193142630

2 SubmittersRCV000400771 RCV001481104

NM_033100.4(CDHR1):c.1553+6T>C

SNV
Germline

Chr10:84211721

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5579972

rs_199567321

5 SubmittersRCV000306123 RCV000494444 RCV004816534

NM_033100.4(CDHR1):c.1873C>G (p.His625Asp)

SNV
Germline

Chr10:84213181

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5580080

rs_149043166

3 SubmittersRCV000295691 RCV000897364 RCV003910102

NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly)

SNV
Unknown

Chr10:84211128

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

CA377376890

rs_1554857529

1 SubmittersRCV000504869

NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)

SNV
Germline

Chr10:84211689

Pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA377377258

rs_1477733493

2 SubmittersRCV000504623 RCV001857214

NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp)

SNV
Germline

Chr10:84208342

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA5579843

rs_146783539

2 SubmittersRCV002067009 RCV000754589

NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile)

SNV
Germline

Chr10:84203029

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5579644

rs_141173656

5 SubmittersRCV000761736 RCV004817975

NM_033100.4(CDHR1):c.1792G>A (p.Glu598Lys)

SNV
Germline

Chr10:84213100

Conflicting classifications of pathogenicity

Condition: not provided
CDHR1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5580060

rs_114754869

6 SubmittersRCV000904366 RCV004749526 RCV005532792

NM_033100.4(CDHR1):c.556C>T (p.His186Tyr)

SNV
Germline

Chr10:84201837

Conflicting classifications of pathogenicity

Condition: not provided
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5579587

rs_147420731

5 SubmittersRCV000996127 RCV003906134

NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr10:84194761

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA377369066

rs_794726954

1 SubmittersRCV001002928

NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp)

SNV
Germline

Chr10:84211053

Conflicting classifications of pathogenicity

Cone-rod dystrophy
Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA5579924

rs_760942217

3 SubmittersRCV002267754 RCV003769393 RCV005253674

NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)

SNV
Germline

Chr10:84211061

Pathogenic

Condition: not provided
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA377376746

rs_1589306127

4 SubmittersRCV001268819 RCV002267755

NM_033100.4(CDHR1):c.1485+2T>G

SNV
Germline

Chr10:84211167

Pathogenic

Condition: not provided
Cone-rod dystrophy
Cone-rod dystrophy 15

Criteria Provided
Single Submitter

CA377377031

rs_767366723

3 SubmittersRCV001389461 RCV002267756 RCV003159169

NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)

SNV
Germline

Chr10:84212376

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5580034

rs_754321329

3 SubmittersRCV001034280 RCV002552051

NM_033100.4(CDHR1):c.838C>T (p.Arg280Ter)

SNV
Germline

Chr10:84204581

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5579729

rs_191858417

1 SubmittersRCV001047268

NM_033100.4(CDHR1):c.525+1G>A

SNV
Germline

Chr10:84200688

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5579559

rs_373412516

1 SubmittersRCV001040273

NM_033100.4(CDHR1):c.1485+2T>C

SNV
Germline

Chr10:84211167

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA210386500

rs_767366723

2 SubmittersRCV001051276 RCV001073372

NM_033100.4(CDHR1):c.55+1G>A

SNV
Germline

Chr10:84194816

Likely pathogenic

Retinal dystrophy
CDHR1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210376402

rs_547198427

3 SubmittersRCV001073921 RCV003393836 RCV001377811

NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu)

SNV
Germline

Chr10:84194804

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
CDHR1-related disorder

Criteria Provided
Conflicting Classifications

CA5579379

rs_74903725

3 SubmittersRCV001108871 RCV001520346 RCV003906206

NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys)

SNV
Germline

Chr10:84205902

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Inborn genetic diseases
CDHR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579779

rs_144058677

4 SubmittersRCV001105753 RCV002556080 RCV003918685 RCV001521334

NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)

SNV
Germline

Chr10:84208748

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5579877

rs_145353541

4 SubmittersRCV001106870 RCV001201528 RCV004813771

NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val)

SNV
Germline

Chr10:84211034

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA5579918

rs_112631930

3 SubmittersRCV001106872 RCV001396332 RCV004813772

NM_033100.4(CDHR1):c.1848C>T (p.Pro616=)

SNV
Germline

Chr10:84213156

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5580069

rs_147920893

2 SubmittersRCV001103923 RCV001469956

NM_033100.4(CDHR1):c.784-4C>T

SNV
Germline

Chr10:84204523

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5579704

rs_768106524

2 SubmittersRCV001103810 RCV002069724

NM_033100.4(CDHR1):c.686C>T (p.Thr229Ile)

SNV
Germline

Chr10:84203026

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5579643

rs_146547564

2 SubmittersRCV001219451 RCV002562997

NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr)

SNV
Germline

Chr10:84211133

Conflicting classifications of pathogenicity

Condition: not provided
Optic atrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5579940

rs_532268197

3 SubmittersRCV001206100 RCV004813859 RCV002561215

NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser)

SNV
Germline

Chr10:84201843

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA5579591

rs_748412274

2 SubmittersRCV001234341 RCV005367780

NM_033100.4(CDHR1):c.1168-1G>C

SNV
Germline

Chr10:84208728

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377375278

rs_1395276529

1 SubmittersRCV001227878

NM_033100.4(CDHR1):c.2041-2A>C

SNV
Germline

Chr10:84214080

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5580134

rs_763740152

1 SubmittersRCV001371052

NM_033100.4(CDHR1):c.640-2A>T

SNV
Germline

Chr10:84202978

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377372530

rs_2132807272

1 SubmittersRCV001377129

NM_033100.4(CDHR1):c.355G>T (p.Glu119Ter)

SNV
Germline

Chr10:84199038

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377370952

rs_531420059

1 SubmittersRCV001380575

NM_033100.4(CDHR1):c.1000C>T (p.Gln334Ter)

SNV
Germline

Chr10:84208210

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377374365

rs_1340364290

1 SubmittersRCV001383463

NM_033100.4(CDHR1):c.1855G>T (p.Val619Leu)

SNV
Germline

Chr10:84213163

Conflicting classifications of pathogenicity

Condition: not provided
CDHR1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5580073

rs_115388824

4 SubmittersRCV001409094 RCV004749684 RCV005533001

NM_033100.4(CDHR1):c.1328C>T (p.Ala443Val)

SNV
Germline

Chr10:84211008

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5579912

rs_147726523

2 SubmittersRCV001425958 RCV002555517

NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter)

SNV
Germline

Chr10:84203108

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377372792

rs_769081286

2 SubmittersRCV001543447

NM_033100.4(CDHR1):c.1219C>T (p.Arg407Ter)

SNV
Germline

Chr10:84208780

Pathogenic

Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Multiple Submitters
No Conflicts

CA210383496

rs_373978786

2 SubmittersRCV001882713 RCV001591909

NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr10:84205892

Likely pathogenic

Retinitis pigmentosa
Cone-rod dystrophy 15
Macular dystrophy, retinal, 5

Criteria Provided
Single Submitter

CA377373883

rs_1842216995

2 SubmittersRCV001724851 RCV002227535 RCV003222341

NM_033100.4(CDHR1):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr10:84200685

Pathogenic

Condition: not provided

No Assertion Criteria Provided

CA377371653

rs_1486109432

2 SubmittersRCV001723338

NM_033100.4(CDHR1):c.1744A>T (p.Lys582Ter)

SNV
Germline

Chr10:84212369

Pathogenic/Likely pathogenic

Cone-rod dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA5580032

rs_142980820

2 SubmittersRCV004017867 RCV001868854

NM_033100.4(CDHR1):c.56-1G>A

SNV
Germline

Chr10:84195493

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 15

Criteria Provided
Multiple Submitters
No Conflicts

CA5579393

rs_751972593

2 SubmittersRCV002022338 RCV005232754

NM_033100.4(CDHR1):c.525+1G>T

SNV
Germline

Chr10:84200688

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5579558

rs_373412516

1 SubmittersRCV001950859

NM_033100.4(CDHR1):c.1167+2T>C

SNV
Germline

Chr10:84208379

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377375232

rs_2132820982

1 SubmittersRCV002005402

NM_033100.4(CDHR1):c.1675G>A (p.Val559Ile)

SNV
Germline

Chr10:84212300

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5580016

rs_778340853

2 SubmittersRCV002027479 RCV005535255

NM_033100.4(CDHR1):c.1511G>A (p.Trp504Ter)

SNV
Germline

Chr10:84211673

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377377180

rs_74902839

1 SubmittersRCV002002349

NM_033100.4(CDHR1):c.526-1G>A

SNV
Germline

Chr10:84201806

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377372158

rs_1842129715

1 SubmittersRCV002034913

NM_033100.4(CDHR1):c.1516G>T (p.Glu506Ter)

SNV
Germline

Chr10:84211678

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377377204

rs_547812313

1 SubmittersRCV001864635

NM_033100.4(CDHR1):c.1783-2A>G

SNV
Germline

Chr10:84213089

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377378237

rs_2132833489

1 SubmittersRCV001988301

NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala)

SNV
Germline

Chr10:84212345

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 15

Criteria Provided
Conflicting Classifications

CA377378102

rs_746501731

3 SubmittersRCV001972463 RCV004816826 RCV005361871

NM_033100.4(CDHR1):c.18G>A (p.Trp6Ter)

SNV
Germline

Chr10:84194778

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377369104

rs_1220602138

1 SubmittersRCV001963280

NM_033100.4(CDHR1):c.784-1G>C

SNV
Germline

Chr10:84204526

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5579707

rs_777305743

1 SubmittersRCV001977000

NM_033100.4(CDHR1):c.355G>A (p.Glu119Lys)

SNV
Germline

Chr10:84199038

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5579526

rs_531420059

2 SubmittersRCV002071225 RCV002552347

NM_033100.4(CDHR1):c.964-1G>C

SNV
Germline

Chr10:84208173

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA5579804

rs_773704365

1 SubmittersRCV002613155

NM_033100.4(CDHR1):c.297+1G>A

SNV
Germline

Chr10:84196651

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377370502

rs_1464226905

1 SubmittersRCV002597201

NM_033100.4(CDHR1):c.2038G>T (p.Glu680Ter)

SNV
Germline

Chr10:84213346

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377378781

rs_2492544964

1 SubmittersRCV002828937

NM_033100.4(CDHR1):c.2455A>G (p.Thr819Ala)

SNV
Germline

Chr10:84214496

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5580239

rs_747960015

2 SubmittersRCV002933047 RCV002933046

NM_033100.4(CDHR1):c.1632C>A (p.Tyr544Ter)

SNV
Germline

Chr10:84212257

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377377908

rs_1480934668

1 SubmittersRCV002971468

NM_033100.4(CDHR1):c.439-1G>A

SNV
Germline

Chr10:84200600

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA210379546

rs_916319156

1 SubmittersRCV003054108

NM_033100.4(CDHR1):c.1168-1G>A

SNV
Germline

Chr10:84208728

Pathogenic

Retinitis pigmentosa 65

No Assertion Criteria Provided

CA377375282

rs_1395276529

1 SubmittersRCV003159257

NM_033100.4(CDHR1):c.2040+5G>T

SNV
Germline

Chr10:84213353

Pathogenic

Macular dystrophy, retinal, 5

No Assertion Criteria Provided

CA594886783

rs_1446751435

1 SubmittersRCV003159259

NM_033100.4(CDHR1):c.862+1G>T

SNV
Germline

Chr10:84204606

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377373546

rs_2492505338

1 SubmittersRCV003569269

NM_033100.4(CDHR1):c.17G>A (p.Trp6Ter)

SNV
Germline

Chr10:84194777

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377369100

rs_1461691786

1 SubmittersRCV003668016

NM_033100.4(CDHR1):c.2041-1G>C

SNV
Germline

Chr10:84214081

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377378941

rs_2492548014

1 SubmittersRCV003704687

NM_033100.4(CDHR1):c.438+1G>A

SNV
Germline

Chr10:84199122

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377371131

rs_2492479034

1 SubmittersRCV003727115

NM_033100.4(CDHR1):c.1729G>T (p.Gly577Ter)

SNV
Germline

Chr10:84212354

Likely pathogenic

Cone-rod dystrophy 15

No Assertion Criteria Provided

1 SubmittersRCV004691597

NM_033100.4(CDHR1):c.1782+1G>A

SNV
Germline

Chr10:84212408

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA377378230

rs_2492539884

1 SubmittersRCV003819216

NM_033100.4(CDHR1):c.863-2A>G

SNV
Germline

Chr10:84205825

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818700

NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)

SNV
Unknown

Chr10:84204592

Pathogenic

Cone-rod dystrophy 12

Criteria Provided
Single Submitter

1 SubmittersRCV004759477

NM_033100.4(CDHR1):c.1486G>C (p.Ala496Pro)

SNV
Germline

Chr10:84211648

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

1 SubmittersRCV005419812

NM_033100.4(CDHR1):c.152-2A>G

SNV
Germline

Chr10:84196503

Likely pathogenic

Cone-rod dystrophy 15

Criteria Provided
Single Submitter

1 SubmittersRCV005051215

NM_033100.4(CDHR1):c.1168-2A>G

SNV
Germline

Chr10:84208727

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005118068