Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)	SNV Germline	Chr5:149886354	Pathogenic	Retinitis pigmentosa 43 Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA256725	rs_121918576	7 SubmittersRCV000013989 RCV000987614 RCV001851842 RCV006697990
NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg)	SNV Germline	Chr5:149907345	Pathogenic	Retinitis pigmentosa 43	No Assertion Criteria Provided	CA256727	rs_121918577	1 SubmittersRCV000013990
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)	SNV Germline	Chr5:149895228	Pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter	CA256728	rs_121918578	2 SubmittersRCV000013991
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)	SNV Germline	Chr5:149883511	Pathogenic	Retinitis pigmentosa 43 Condition: not provided Retinal dystrophy Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA259675	rs_121909835	9 SubmittersRCV000022755 RCV000797198 RCV001074616 RCV006698002
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)	SNV Germline	Chr5:149896500	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA146172	rs_17711594	6 SubmittersRCV000078824 RCV000407553 RCV000958573 RCV004815003
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)	SNV Germline	Chr5:149884543	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa 43 Condition: not provided Retinitis pigmentosa Uterine corpus endometrial carcinoma Sarcoma Lymphoma Melanoma Malignant tumor of esophagus Ovarian cancer Cervical cancer	Criteria Provided Conflicting Classifications	CA146174	rs_78775072	6 SubmittersRCV000078825 RCV001001657 RCV001521115 RCV001156330 RCV005886235 RCV005886232 RCV005886233 RCV005886234 RCV005886229 RCV005886231 RCV005886230
NM_000440.3(PDE6A):c.594G>A (p.Val198=)	SNV Germline	Chr5:149934599	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA220833	rs_398123394	3 SubmittersRCV000078826 RCV000386318
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)	SNV Germline	Chr5:149896430	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 43 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA228873	rs_61733362	5 SubmittersRCV000086933 RCV001002090 RCV001157994
NM_000440.3(PDE6A):c.879G>A (p.Pro293=)	SNV Germline	Chr5:149921689	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA228875	rs_137853899	3 SubmittersRCV000086934 RCV000264899
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)	SNV Germline	Chr5:149903675	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinitis pigmentosa 43 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA292705	rs_142259966	6 SubmittersRCV000127384 RCV000345398 RCV001001850 RCV001152527
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	SNV Germline	Chr5:149895206	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 43 PDE6A-related disorder Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA234508	rs_139444207	12 SubmittersRCV000153658 RCV000292173 RCV001376415 RCV003416002 RCV006698097
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)	SNV Germline	Chr5:149896356	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA234509	rs_727504072	2 SubmittersRCV000153659
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met)	SNV Germline	Chr5:149944423	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA238608	rs_771965437	3 SubmittersRCV000173133 RCV005396517
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	SNV Germline	Chr5:149944370	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 43 PDE6A-related disorder	Criteria Provided Conflicting Classifications	CA238610	rs_141252097	20 SubmittersRCV000173136 RCV000407624 RCV001073620 RCV001257852 RCV001376501 RCV004739555
NM_000440.3(PDE6A):c.1926+1G>A	SNV Germline	Chr5:149884779	Pathogenic	Condition: not provided Retinitis pigmentosa 43 Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA275023	rs_794727139	6 SubmittersRCV000174847 RCV001376192 RCV001199499 RCV004816264
NM_000440.3(PDE6A):c.2027+5G>A	SNV Germline	Chr5:149884474	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA240657	rs_794727166	2 SubmittersRCV000175010 RCV005868005
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)	SNV Germline	Chr5:149921690	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA203011	rs_114973968	11 SubmittersRCV000178770 RCV000787859 RCV000954915 RCV003888635
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)	SNV Germline	Chr5:149899424	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA247977	rs_145107955	5 SubmittersRCV000180505 RCV004816312 RCV005396553
NM_000440.3(PDE6A):c.1408-2A>G	SNV Germline	Chr5:149896778	Pathogenic	Retinitis pigmentosa 43 Condition: not provided	Criteria Provided Single Submitter	CA16609339	rs_1060499536	2 SubmittersRCV000210743 RCV005090048
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)	SNV Germline	Chr5:149944307	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA3505068	rs_147010346	8 SubmittersRCV000225533 RCV000262570 RCV000407618 RCV002487040
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)	SNV Germline	Chr5:149931102	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 43 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504944	rs_148938083	7 SubmittersRCV000261042 RCV000725573 RCV000765822 RCV003888675
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser)	SNV Germline	Chr5:149898421	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504723	rs_185588836	4 SubmittersRCV000354760 RCV001152524 RCV003888692
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)	SNV Germline	Chr5:149884570	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504459	rs_147047715	3 SubmittersRCV000371829 RCV000906829 RCV003888837
NM_000440.3(PDE6A):c.1745G>A (p.Arg582His)	SNV Germline	Chr5:149886358	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504547	rs_77760924	4 SubmittersRCV000336758 RCV001062154 RCV001073266
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=)	SNV Germline	Chr5:149896362	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504628	rs_139697733	2 SubmittersRCV000351728 RCV000919470
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=)	SNV Germline	Chr5:149898474	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided PDE6A-related disorder	Criteria Provided Conflicting Classifications	CA3504731	rs_372161698	3 SubmittersRCV000343727 RCV002061264 RCV003970024
NM_000440.3(PDE6A):c.628-5T>G	SNV Germline	Chr5:149934024	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504996	rs_757034771	2 SubmittersRCV000331903 RCV001346375
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)	SNV Germline	Chr5:149944400	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 43 Usher syndrome	Criteria Provided Conflicting Classifications	CA3505097	rs_199924410	4 SubmittersRCV000401940 RCV001417212 RCV002470846 RCV003389471
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=)	SNV Germline	Chr5:149860910	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504229	rs_147000954	3 SubmittersRCV000270453 RCV000965193
NM_000440.3(PDE6A):c.918G>A (p.Arg306=)	SNV Germline	Chr5:149921650	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504895	rs_139553131	2 SubmittersRCV000359518 RCV001512241
NM_000440.3(PDE6A):c.481C>G (p.His161Asp)	SNV Germline	Chr5:149934712	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3505032	rs_758150381	2 SubmittersRCV000332836 RCV002061265
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)	SNV Germline	Chr5:149944375	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 43 Usher syndrome	Criteria Provided Conflicting Classifications	CA3505085	rs_199738915	4 SubmittersRCV000353155 RCV001487723 RCV002470845 RCV003389470
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)	SNV Germline	Chr5:149860929	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided PDE6A-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504232	rs_138315990	6 SubmittersRCV000306846 RCV000414303 RCV003932441 RCV004816599
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)	SNV Germline	Chr5:149884552	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504455	rs_199748187	3 SubmittersRCV000266622 RCV000927531 RCV003888836
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)	SNV Germline	Chr5:149884554	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504456	rs_149380104	2 SubmittersRCV000317078 RCV000909706
NM_000440.3(PDE6A):c.1729-4C>T	SNV Germline	Chr5:149886378	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA10623421	rs_555052906	2 SubmittersRCV000386640 RCV002058515
NM_000440.3(PDE6A):c.384C>T (p.Pro128=)	SNV Germline	Chr5:149944290	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3505066	rs_192618681	3 SubmittersRCV000348073 RCV001434091
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)	SNV Germline	Chr5:149944331	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3505072	rs_147159579	3 SubmittersRCV000282797 RCV001497572 RCV005452983
NM_000440.3(PDE6A):c.-11G>T	SNV Germline	Chr5:149944684	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3505167	rs_112926956	2 SubmittersRCV000273676 RCV001672657
NM_000440.3(PDE6A):c.1408-11G>A	SNV Germline	Chr5:149896787	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided PDE6A-related retinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504691	rs_201527437	4 SubmittersRCV000307692 RCV001513739 RCV005355675 RCV004816600
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys)	SNV Germline	Chr5:149931033	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Inborn genetic diseases Retinal dystrophy Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA3504933	rs_201406216	5 SubmittersRCV000306059 RCV001044861 RCV004649138 RCV004816601 RCV005863128
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala)	SNV Germline	Chr5:149931056	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504937	rs_145608358	2 SubmittersRCV000360865 RCV001234568
NM_000440.3(PDE6A):c.498G>A (p.Val166=)	SNV Germline	Chr5:149934695	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinitis pigmentosa 43 not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3505029	rs_138274547	7 SubmittersRCV000296760 RCV000964262 RCV001287033 RCV001700341 RCV004816602
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)	SNV Germline	Chr5:149883526	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3504419	rs_148598583	4 SubmittersRCV000485029 RCV001156327 RCV004955534
NM_000440.3(PDE6A):c.2027+5G>T	SNV Germline	Chr5:149884474	Pathogenic	Leber congenital amaurosis	No Assertion Criteria Provided	CA658657557	rs_794727166	1 SubmittersRCV000515673
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	SNV Germline	Chr5:149884549	Pathogenic	Retinitis pigmentosa Inborn genetic diseases Condition: not provided Retinal dystrophy Retinitis pigmentosa 43 Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA3504453	rs_753942596	12 SubmittersRCV000504732 RCV000622936 RCV000627204 RCV004817725 RCV005252934 RCV006698189
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	SNV Germline	Chr5:149895281	Pathogenic/Likely pathogenic	Retinitis pigmentosa Retinal dystrophy Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA3504607	rs_144484128	5 SubmittersRCV000505062 RCV001075345 RCV001229513 RCV005034046
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	SNV Germline	Chr5:149931117	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided Retinal dystrophy Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA3504948	rs_146591309	11 SubmittersRCV000504959 RCV000595544 RCV001073963 RCV001376482
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter)	SNV Germline	Chr5:149883481	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA361692457	rs_1161389116	2 SubmittersRCV000512677 RCV001199495
NM_000440.3(PDE6A):c.1065+2T>A	SNV Germline	Chr5:149907310	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA361698740	rs_1554090012	3 SubmittersRCV000513022 RCV001199500
NM_000440.3(PDE6A):c.933+4C>T	SNV Germline	Chr5:149921631	Conflicting classifications of pathogenicity	not specified Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504890	rs_12109444	3 SubmittersRCV000729000 RCV001153812 RCV001512641
NM_000440.3(PDE6A):c.2183G>A (p.Trp728Ter)	SNV Germline	Chr5:149868111	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361689419	rs_1561679951	1 SubmittersRCV000729001
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn)	SNV Germline	Chr5:149944571	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3505145	rs_374847529	4 SubmittersRCV000757603 RCV001154773 RCV004817968
NM_000440.3(PDE6A):c.2275-1G>A	SNV Germline	Chr5:149866254	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361688471	rs_1428612396	3 SubmittersRCV001064857 RCV004808875
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)	SNV Unknown	Chr5:149898483	Pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA361696313	rs_1581180469	2 SubmittersRCV000787636
NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter)	SNV Unknown	Chr5:149907323	Pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA361698764	rs_1581190641	1 SubmittersRCV000787635
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)	SNV Germline	Chr5:149944673	Likely pathogenic	Retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA361701668	rs_976670244	2 SubmittersRCV000787639 RCV005092355
NM_000440.3(PDE6A):c.1620+1G>A	SNV Germline	Chr5:149896355	Pathogenic/Likely pathogenic	Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3504626	rs_781377291	3 SubmittersRCV000787638 RCV001073345 RCV001229110
NM_000440.3(PDE6A):c.1407+1G>A	SNV Unknown	Chr5:149898362	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA3504715	rs_781616522	1 SubmittersRCV000787637
NM_000440.3(PDE6A):c.627+2T>G	SNV Germline	Chr5:149934564	Pathogenic	Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361698139	rs_1581211727	3 SubmittersRCV000787642 RCV004818008 RCV006271658
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His)	SNV Germline	Chr5:149867750	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 43 PDE6A-related disorder	Criteria Provided Conflicting Classifications	CA3504352	rs_146145709	5 SubmittersRCV000970308 RCV005392598 RCV004740523
NM_000440.3(PDE6A):c.765C>T (p.Ile255=)	SNV Germline	Chr5:149931121	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA3504950	rs_141300510	2 SubmittersRCV000964993 RCV001156436
NM_000440.3(PDE6A):c.86G>A (p.Arg29Gln)	SNV Germline	Chr5:149944588	Conflicting classifications of pathogenicity	Condition: not provided PDE6A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3505148	rs_201008270	3 SubmittersRCV000888230 RCV003948393 RCV005384887
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)	SNV Germline	Chr5:149860952	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA3504242	rs_376909494	2 SubmittersRCV000909718 RCV001152436
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr)	SNV Germline	Chr5:149944358	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy PDE6A-related disorder	Criteria Provided Conflicting Classifications	CA3505078	rs_200696413	4 SubmittersRCV000903187 RCV001152640 RCV003890038 RCV004740499
NM_000440.3(PDE6A):c.102C>T (p.Ser34=)	SNV Germline	Chr5:149944572	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA3505146	rs_140009042	2 SubmittersRCV000910366 RCV001154774
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)	SNV Germline	Chr5:149867761	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA3504357	rs_145809648	3 SubmittersRCV000912740 RCV001153714
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)	SNV Unknown	Chr5:149895237	Pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA361695149	rs_375659222	1 SubmittersRCV000987615
NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr)	SNV Germline	Chr5:149896366	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA361695293	rs_1581177868	2 SubmittersRCV000998466 RCV001199493
NM_000440.3(PDE6A):c.743T>A (p.Val248Asp)	SNV Germline	Chr5:149931143	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA361696623	rs_1581209421	2 SubmittersRCV000998467 RCV001199498
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)	SNV Germline	Chr5:149884546	Pathogenic	Retinitis pigmentosa Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361693348	rs_1581166539	3 SubmittersRCV001003111 RCV002272384
NM_000440.3(PDE6A):c.2506+1G>A	SNV Germline	Chr5:149863118	Pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA361708804	rs_1561671507	1 SubmittersRCV001003109
NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln)	SNV Germline	Chr5:149944636	Pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA361701584	rs_1754418004	1 SubmittersRCV001199497
NM_000440.3(PDE6A):c.1966G>T (p.Glu656Ter)	SNV Germline	Chr5:149884540	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3504450	rs_199871385	1 SubmittersRCV001049804
NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter)	SNV Germline	Chr5:149884863	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA361693616	rs_1752223896	2 SubmittersRCV001060773
NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro)	SNV Germline	Chr5:149895187	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA3504576	rs_759537984	2 SubmittersRCV001050508 RCV005056832
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys)	SNV Germline	Chr5:149944370	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA3505083	rs_141252097	3 SubmittersRCV001040968 RCV001724216
NM_000440.3(PDE6A):c.998+1G>A	SNV Germline	Chr5:149914942	Pathogenic	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 43 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3504845	rs_748946491	6 SubmittersRCV001060604 RCV001724223 RCV003225740 RCV004813663
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)	SNV Germline	Chr5:149866226	Pathogenic	Retinal dystrophy Retinitis pigmentosa 43 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3504330	rs_759563967	4 SubmittersRCV001073639 RCV001784630 RCV001381541
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	SNV Germline	Chr5:149895222	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA3504592	rs_776918069	5 SubmittersRCV001074263 RCV001226626 RCV002489721
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)	SNV Germline	Chr5:149931070	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA361696466	rs_1754021035	3 SubmittersRCV001075135 RCV001268400
NM_000440.3(PDE6A):c.2506+7G>A	SNV Germline	Chr5:149863112	Conflicting classifications of pathogenicity	Retinal dystrophy Retinitis pigmentosa 43 Condition: not provided	Criteria Provided Conflicting Classifications	CA563553945	rs_1382186195	3 SubmittersRCV001075219 RCV001376276 RCV002554749
NM_000440.3(PDE6A):c.2359-17C>T	SNV Germline	Chr5:149863283	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3504300	rs_368621811	2 SubmittersRCV001073267 RCV002069576
NM_000440.3(PDE6A):c.1620+2T>A	SNV Germline	Chr5:149896354	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361695266	rs_1383907349	3 SubmittersRCV001074262 RCV002557908 RCV005036389
NM_000440.3(PDE6A):c.1407+1G>C	SNV Germline	Chr5:149898362	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA3504714	rs_781616522	6 SubmittersRCV001073714 RCV001238495 RCV002497487
NM_000440.3(PDE6A):c.1263+1G>T	SNV Germline	Chr5:149899374	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA3504750	rs_369896113	4 SubmittersRCV001073962 RCV001378941 RCV006698332
NM_000440.3(PDE6A):c.999-2A>G	SNV Germline	Chr5:149907380	Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361698880	rs_1753232409	4 SubmittersRCV001073306 RCV001268816 RCV002505661
NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu)	SNV Germline	Chr5:149863130	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504268	rs_750503504	2 SubmittersRCV001152438 RCV002557290
NM_000440.3(PDE6A):c.2322C>T (p.Val774=)	SNV Germline	Chr5:149866206	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA447140695	rs_766767235	2 SubmittersRCV001153712 RCV001406173
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)	SNV Germline	Chr5:149883527	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504420	rs_140267699	2 SubmittersRCV001156328 RCV001489443
NM_000440.3(PDE6A):c.1965T>C (p.His655=)	SNV Germline	Chr5:149884541	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504451	rs_753303277	2 SubmittersRCV001156329 RCV002559502
NM_000440.3(PDE6A):c.940A>C (p.Asn314His)	SNV Germline	Chr5:149915001	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504855	rs_150755165	2 SubmittersRCV001153811 RCV002070875
NM_000440.3(PDE6A):c.363C>T (p.Leu121=)	SNV Germline	Chr5:149944311	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3505070	rs_767520227	2 SubmittersRCV001152639 RCV002070855
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp)	SNV Germline	Chr5:149944376	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3505086	rs_200540105	2 SubmittersRCV001153919 RCV001486691
NM_000440.3(PDE6A):c.285C>T (p.Ser95=)	SNV Germline	Chr5:149944389	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided PDE6A-related disorder	Criteria Provided Conflicting Classifications	CA3505091	rs_765008436	4 SubmittersRCV001153920 RCV002070877 RCV003898149
NM_000440.3(PDE6A):c.1728+13C>T	SNV Germline	Chr5:149895170	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA3504570	rs_144868706	2 SubmittersRCV001157993 RCV002070947
NM_000440.3(PDE6A):c.2027+2T>G	SNV Unknown	Chr5:149884477	Pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter	CA361693192	rs_1259637349	1 SubmittersRCV001196671
NM_000440.3(PDE6A):c.2525C>T (p.Pro842Leu)	SNV Germline	Chr5:149860953	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504244	rs_542180384	3 SubmittersRCV001209224 RCV002561706 RCV004813876
NM_000440.3(PDE6A):c.2274+5G>C	SNV Germline	Chr5:149867720	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA1139659167	rs_1760382600	1 SubmittersRCV001210862
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)	SNV Germline	Chr5:149895226	Likely pathogenic	Retinitis pigmentosa 43 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3504594	rs_373537826	3 SubmittersRCV003323829 RCV001235330
NM_000440.3(PDE6A):c.305G>A (p.Arg102His)	SNV Germline	Chr5:149944369	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 43 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA129059224	rs_750539462	4 SubmittersRCV001246711 RCV005038008 RCV004814010
NM_000440.3(PDE6A):c.475-1G>T	SNV Germline	Chr5:149934719	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361698699	rs_1754135016	1 SubmittersRCV001225586
NM_000440.3(PDE6A):c.1927-1G>T	SNV Germline	Chr5:149884580	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361693419	rs_1761074706	1 SubmittersRCV001268366
NM_000440.3(PDE6A):c.998+2T>G	SNV Germline	Chr5:149914941	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361699074	rs_1753505068	1 SubmittersRCV001268138
NM_000440.3(PDE6A):c.1958G>A (p.Arg653Gln)	SNV Germline	Chr5:149884548	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3504452	rs_777944622	2 SubmittersRCV001322076 RCV004035051
NM_000440.3(PDE6A):c.2T>C (p.Met1Thr)	SNV Germline	Chr5:149944672	Likely pathogenic	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA129059540	rs_943943635	2 SubmittersRCV001340511 RCV005038097
NM_000440.3(PDE6A):c.1473+5G>A	SNV Germline	Chr5:149896706	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3504678	rs_376233776	1 SubmittersRCV001362219
NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter)	SNV Germline	Chr5:149944469	Pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter	CA361700930	rs_1450419928	1 SubmittersRCV001376484
NM_000440.3(PDE6A):c.1113+1G>A	SNV Germline	Chr5:149903647	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3504786	rs_372346866	1 SubmittersRCV001378134
NM_000440.3(PDE6A):c.2426G>A (p.Trp809Ter)	SNV Germline	Chr5:149863199	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA129088380	rs_979416907	1 SubmittersRCV001380346
NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter)	SNV Germline	Chr5:149899521	Pathogenic	Retinitis pigmentosa 43 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA361697145	rs_2113595869	2 SubmittersRCV001591813 RCV002569127
NM_000440.3(PDE6A):c.2317C>T (p.Gln773Ter)	SNV Germline	Chr5:149866211	Pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter	CA129052579	rs_770529851	1 SubmittersRCV001591815
NM_000440.3(PDE6A):c.2135+1G>T	SNV Germline	Chr5:149883428	Pathogenic/Likely pathogenic	Retinitis pigmentosa 43 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA361692197	rs_561600163	2 SubmittersRCV001591816 RCV002571158
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)	SNV Germline	Chr5:149895227	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided Retinal dystrophy Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA3504595	rs_759589388	4 SubmittersRCV001724800 RCV002032669 RCV003888315 RCV002503172
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)	SNV Germline	Chr5:149898484	Pathogenic	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361696315	rs_1390479623	2 SubmittersRCV001910736 RCV002246599
NM_000440.3(PDE6A):c.1263+1G>A	SNV Germline	Chr5:149899374	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA129072845	rs_369896113	1 SubmittersRCV002002368
NM_000440.3(PDE6A):c.2263C>T (p.Gln755Ter)	SNV Germline	Chr5:149867736	Pathogenic	Condition: not provided Retinitis pigmentosa 40	Criteria Provided Multiple Submitters No Conflicts	CA361688575	rs_2113507459	2 SubmittersRCV001950971 RCV006698430
NM_000440.3(PDE6A):c.628-1G>C	SNV Germline	Chr5:149934020	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3504995	rs_753687039	1 SubmittersRCV002016693
NM_000440.3(PDE6A):c.457G>A (p.Val153Ile)	SNV Germline	Chr5:149944217	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3505051	rs_556692354	2 SubmittersRCV001950435 RCV003247207
NM_000440.3(PDE6A):c.1032C>T (p.Ser344=)	SNV Germline	Chr5:149907345	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy PDE6A-related disorder	Criteria Provided Conflicting Classifications	CA3504829	rs_121918577	3 SubmittersRCV002125377 RCV003889070 RCV004741246
NM_000440.3(PDE6A):c.1838+1G>A	SNV Germline	Chr5:149886264	Pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter	CA361693636	rs_2113558095	1 SubmittersRCV002250182
NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)	SNV Germline	Chr5:149899472	Likely pathogenic	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361696965	rs_1406110455	2 SubmittersRCV003037124 RCV005034604
NM_000440.3(PDE6A):c.924G>A (p.Pro308=)	SNV Germline	Chr5:149921644	Conflicting classifications of pathogenicity	Condition: not provided PDE6A-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA3504892	rs_369194532	3 SubmittersRCV003063308 RCV003906474 RCV003889221
NM_000440.3(PDE6A):c.1065+1G>T	SNV Germline	Chr5:149907311	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361698743	rs_2480610077	1 SubmittersRCV003112181
NM_000440.3(PDE6A):c.1631G>A (p.Arg544Gln)	SNV Germline	Chr5:149895280	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Conflicting Classifications	CA3504606	rs_780572803	2 SubmittersRCV002626716 RCV006687336
NM_000440.3(PDE6A):c.1311T>A (p.Tyr437Ter)	SNV Germline	Chr5:149898459	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361696262	rs_2480574461	1 SubmittersRCV002825532
NM_000440.3(PDE6A):c.1728+1G>A	SNV Germline	Chr5:149895182	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361695035	rs_2480557976	1 SubmittersRCV002871894
NM_000440.3(PDE6A):c.1600A>T (p.Lys534Ter)	SNV Germline	Chr5:149896376	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA361695319	rs_2480564545	1 SubmittersRCV002867611
NM_000440.3(PDE6A):c.1444T>C (p.Cys482Arg)	SNV Germline	Chr5:149896740	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA361695936	rs_1386927449	2 SubmittersRCV003013996 RCV004794602
NM_000440.3(PDE6A):c.1363A>T (p.Lys455Ter)	SNV Germline	Chr5:149898407	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3504720	rs_536201841	1 SubmittersRCV003555216
NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter)	SNV Germline	Chr5:149898497	Likely pathogenic	Retinitis pigmentosa 43	No Assertion Criteria Provided			1 SubmittersRCV004691618
NM_000440.3(PDE6A):c.2358+1G>A	SNV Germline	Chr5:149866169	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3504316	rs_1333137167	1 SubmittersRCV003851294
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)	SNV Germline	Chr5:149933932	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts	CA361697772	rs_1366137772	2 SubmittersRCV003864117 RCV005038594
NM_000440.3(PDE6A):c.1202C>T (p.Ala401Val)	SNV Germline	Chr5:149899436	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3504761	rs_769697401	2 SubmittersRCV004503164 RCV006564804
NM_000440.3(PDE6A):c.1927-1G>C	SNV Germline	Chr5:149884580	Pathogenic/Likely pathogenic	Retinitis pigmentosa Retinitis pigmentosa 43	Criteria Provided Multiple Submitters No Conflicts		rs_1761074706	2 SubmittersRCV004560363 RCV006706409
NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)	SNV Germline	Chr5:149899433	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814073
NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)	SNV Germline	Chr5:149931098	Likely pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814277
NM_000440.3(PDE6A):c.1129G>T (p.Glu377Ter)	SNV Germline	Chr5:149899509	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814285
NM_000440.3(PDE6A):c.84C>A (p.Tyr28Ter)	SNV Germline	Chr5:149944590	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814447
NM_000440.3(PDE6A):c.706C>T (p.Arg236Ter)	SNV Germline	Chr5:149933941	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004818701
NM_000440.3(PDE6A):c.1474-1G>A	SNV Germline	Chr5:149896503	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004722063
NM_000440.3(PDE6A):c.2135+1G>A	SNV Germline	Chr5:149883428	Likely pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter			1 SubmittersRCV005035381
NM_000440.3(PDE6A):c.1066-1G>A	SNV Germline	Chr5:149903696	Likely pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter			1 SubmittersRCV005035382
NM_000440.3(PDE6A):c.934G>T (p.Glu312Ter)	SNV Germline	Chr5:149915007	Likely pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter			1 SubmittersRCV005043192
NM_000440.3(PDE6A):c.1503C>A (p.Tyr501Ter)	SNV Germline	Chr5:149896473	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005153268
NM_000440.3(PDE6A):c.84C>G (p.Tyr28Ter)	SNV Germline	Chr5:149944590	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005154445
NM_000440.3(PDE6A):c.948C>G (p.Tyr316Ter)	SNV Germline	Chr5:149914993	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005199046
NM_000440.3(PDE6A):c.2198A>G (p.Gln733Arg)	SNV Unknown	Chr5:149868096	Likely pathogenic	Retinitis pigmentosa 43	Criteria Provided Single Submitter			1 SubmittersRCV006553828

NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)

SNV
Germline

Chr5:149886354

Pathogenic

Retinitis pigmentosa 43
Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA256725

rs_121918576

7 SubmittersRCV000013989 RCV000987614 RCV001851842 RCV006697990

NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg)

SNV
Germline

Chr5:149907345

Pathogenic

Retinitis pigmentosa 43

No Assertion Criteria Provided

CA256727

rs_121918577

1 SubmittersRCV000013990

NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)

SNV
Germline

Chr5:149895228

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA256728

rs_121918578

2 SubmittersRCV000013991

NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)

SNV
Germline

Chr5:149883511

Pathogenic

Retinitis pigmentosa 43
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA259675

rs_121909835

9 SubmittersRCV000022755 RCV000797198 RCV001074616 RCV006698002

NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)

SNV
Germline

Chr5:149896500

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA146172

rs_17711594

6 SubmittersRCV000078824 RCV000407553 RCV000958573 RCV004815003

NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)

SNV
Germline

Chr5:149884543

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa 43
Condition: not provided
Retinitis pigmentosa
Uterine corpus endometrial carcinoma
Sarcoma
Lymphoma
Melanoma
Malignant tumor of esophagus
Ovarian cancer
Cervical cancer

Criteria Provided
Conflicting Classifications

CA146174

rs_78775072

6 SubmittersRCV000078825 RCV001001657 RCV001521115 RCV001156330 RCV005886235 RCV005886232 RCV005886233 RCV005886234 RCV005886229 RCV005886231 RCV005886230

NM_000440.3(PDE6A):c.594G>A (p.Val198=)

SNV
Germline

Chr5:149934599

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA220833

rs_398123394

3 SubmittersRCV000078826 RCV000386318

NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)

SNV
Germline

Chr5:149896430

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA228873

rs_61733362

5 SubmittersRCV000086933 RCV001002090 RCV001157994

NM_000440.3(PDE6A):c.879G>A (p.Pro293=)

SNV
Germline

Chr5:149921689

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA228875

rs_137853899

3 SubmittersRCV000086934 RCV000264899

NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)

SNV
Germline

Chr5:149903675

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 43
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA292705

rs_142259966

6 SubmittersRCV000127384 RCV000345398 RCV001001850 RCV001152527

NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)

SNV
Germline

Chr5:149895206

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43
PDE6A-related disorder
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA234508

rs_139444207

12 SubmittersRCV000153658 RCV000292173 RCV001376415 RCV003416002 RCV006698097

NM_000440.3(PDE6A):c.1620G>A (p.Glu540=)

SNV
Germline

Chr5:149896356

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA234509

rs_727504072

2 SubmittersRCV000153659

NM_000440.3(PDE6A):c.251A>T (p.Lys84Met)

SNV
Germline

Chr5:149944423

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA238608

rs_771965437

3 SubmittersRCV000173133 RCV005396517

NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)

SNV
Germline

Chr5:149944370

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 43
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA238610

rs_141252097

20 SubmittersRCV000173136 RCV000407624 RCV001073620 RCV001257852 RCV001376501 RCV004739555

NM_000440.3(PDE6A):c.1926+1G>A

SNV
Germline

Chr5:149884779

Pathogenic

Condition: not provided
Retinitis pigmentosa 43
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA275023

rs_794727139

6 SubmittersRCV000174847 RCV001376192 RCV001199499 RCV004816264

NM_000440.3(PDE6A):c.2027+5G>A

SNV
Germline

Chr5:149884474

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA240657

rs_794727166

2 SubmittersRCV000175010 RCV005868005

NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)

SNV
Germline

Chr5:149921690

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA203011

rs_114973968

11 SubmittersRCV000178770 RCV000787859 RCV000954915 RCV003888635

NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)

SNV
Germline

Chr5:149899424

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA247977

rs_145107955

5 SubmittersRCV000180505 RCV004816312 RCV005396553

NM_000440.3(PDE6A):c.1408-2A>G

SNV
Germline

Chr5:149896778

Pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Single Submitter

CA16609339

rs_1060499536

2 SubmittersRCV000210743 RCV005090048

NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)

SNV
Germline

Chr5:149944307

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3505068

rs_147010346

8 SubmittersRCV000225533 RCV000262570 RCV000407618 RCV002487040

NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)

SNV
Germline

Chr5:149931102

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504944

rs_148938083

7 SubmittersRCV000261042 RCV000725573 RCV000765822 RCV003888675

NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser)

SNV
Germline

Chr5:149898421

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504723

rs_185588836

4 SubmittersRCV000354760 RCV001152524 RCV003888692

NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)

SNV
Germline

Chr5:149884570

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504459

rs_147047715

3 SubmittersRCV000371829 RCV000906829 RCV003888837

NM_000440.3(PDE6A):c.1745G>A (p.Arg582His)

SNV
Germline

Chr5:149886358

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504547

rs_77760924

4 SubmittersRCV000336758 RCV001062154 RCV001073266

NM_000440.3(PDE6A):c.1614A>G (p.Pro538=)

SNV
Germline

Chr5:149896362

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504628

rs_139697733

2 SubmittersRCV000351728 RCV000919470

NM_000440.3(PDE6A):c.1296A>G (p.Leu432=)

SNV
Germline

Chr5:149898474

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504731

rs_372161698

3 SubmittersRCV000343727 RCV002061264 RCV003970024

NM_000440.3(PDE6A):c.628-5T>G

SNV
Germline

Chr5:149934024

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504996

rs_757034771

2 SubmittersRCV000331903 RCV001346375

NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)

SNV
Germline

Chr5:149944400

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3505097

rs_199924410

4 SubmittersRCV000401940 RCV001417212 RCV002470846 RCV003389471

NM_000440.3(PDE6A):c.2568C>T (p.Ser856=)

SNV
Germline

Chr5:149860910

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504229

rs_147000954

3 SubmittersRCV000270453 RCV000965193

NM_000440.3(PDE6A):c.918G>A (p.Arg306=)

SNV
Germline

Chr5:149921650

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504895

rs_139553131

2 SubmittersRCV000359518 RCV001512241

NM_000440.3(PDE6A):c.481C>G (p.His161Asp)

SNV
Germline

Chr5:149934712

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505032

rs_758150381

2 SubmittersRCV000332836 RCV002061265

NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)

SNV
Germline

Chr5:149944375

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
Usher syndrome

Criteria Provided
Conflicting Classifications

CA3505085

rs_199738915

4 SubmittersRCV000353155 RCV001487723 RCV002470845 RCV003389470

NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)

SNV
Germline

Chr5:149860929

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504232

rs_138315990

6 SubmittersRCV000306846 RCV000414303 RCV003932441 RCV004816599

NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)

SNV
Germline

Chr5:149884552

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504455

rs_199748187

3 SubmittersRCV000266622 RCV000927531 RCV003888836

NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)

SNV
Germline

Chr5:149884554

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504456

rs_149380104

2 SubmittersRCV000317078 RCV000909706

NM_000440.3(PDE6A):c.1729-4C>T

SNV
Germline

Chr5:149886378

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623421

rs_555052906

2 SubmittersRCV000386640 RCV002058515

NM_000440.3(PDE6A):c.384C>T (p.Pro128=)

SNV
Germline

Chr5:149944290

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505066

rs_192618681

3 SubmittersRCV000348073 RCV001434091

NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)

SNV
Germline

Chr5:149944331

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3505072

rs_147159579

3 SubmittersRCV000282797 RCV001497572 RCV005452983

NM_000440.3(PDE6A):c.-11G>T

SNV
Germline

Chr5:149944684

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505167

rs_112926956

2 SubmittersRCV000273676 RCV001672657

NM_000440.3(PDE6A):c.1408-11G>A

SNV
Germline

Chr5:149896787

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related retinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504691

rs_201527437

4 SubmittersRCV000307692 RCV001513739 RCV005355675 RCV004816600

NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys)

SNV
Germline

Chr5:149931033

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3504933

rs_201406216

5 SubmittersRCV000306059 RCV001044861 RCV004649138 RCV004816601 RCV005863128

NM_000440.3(PDE6A):c.830T>C (p.Val277Ala)

SNV
Germline

Chr5:149931056

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504937

rs_145608358

2 SubmittersRCV000360865 RCV001234568

NM_000440.3(PDE6A):c.498G>A (p.Val166=)

SNV
Germline

Chr5:149934695

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinitis pigmentosa 43
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3505029

rs_138274547

7 SubmittersRCV000296760 RCV000964262 RCV001287033 RCV001700341 RCV004816602

NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)

SNV
Germline

Chr5:149883526

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3504419

rs_148598583

4 SubmittersRCV000485029 RCV001156327 RCV004955534

NM_000440.3(PDE6A):c.2027+5G>T

SNV
Germline

Chr5:149884474

Pathogenic

Leber congenital amaurosis

No Assertion Criteria Provided

CA658657557

rs_794727166

1 SubmittersRCV000515673

NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)

SNV
Germline

Chr5:149884549

Pathogenic

Retinitis pigmentosa
Inborn genetic diseases
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA3504453

rs_753942596

12 SubmittersRCV000504732 RCV000622936 RCV000627204 RCV004817725 RCV005252934 RCV006698189

NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)

SNV
Germline

Chr5:149895281

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504607

rs_144484128

5 SubmittersRCV000505062 RCV001075345 RCV001229513 RCV005034046

NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr5:149931117

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504948

rs_146591309

11 SubmittersRCV000504959 RCV000595544 RCV001073963 RCV001376482

NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter)

SNV
Germline

Chr5:149883481

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA361692457

rs_1161389116

2 SubmittersRCV000512677 RCV001199495

NM_000440.3(PDE6A):c.1065+2T>A

SNV
Germline

Chr5:149907310

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA361698740

rs_1554090012

3 SubmittersRCV000513022 RCV001199500

NM_000440.3(PDE6A):c.933+4C>T

SNV
Germline

Chr5:149921631

Conflicting classifications of pathogenicity

not specified
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504890

rs_12109444

3 SubmittersRCV000729000 RCV001153812 RCV001512641

NM_000440.3(PDE6A):c.2183G>A (p.Trp728Ter)

SNV
Germline

Chr5:149868111

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361689419

rs_1561679951

1 SubmittersRCV000729001

NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn)

SNV
Germline

Chr5:149944571

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3505145

rs_374847529

4 SubmittersRCV000757603 RCV001154773 RCV004817968

NM_000440.3(PDE6A):c.2275-1G>A

SNV
Germline

Chr5:149866254

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361688471

rs_1428612396

3 SubmittersRCV001064857 RCV004808875

NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)

SNV
Unknown

Chr5:149898483

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA361696313

rs_1581180469

2 SubmittersRCV000787636

NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter)

SNV
Unknown

Chr5:149907323

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA361698764

rs_1581190641

1 SubmittersRCV000787635

NM_000440.3(PDE6A):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:149944673

Likely pathogenic

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA361701668

rs_976670244

2 SubmittersRCV000787639 RCV005092355

NM_000440.3(PDE6A):c.1620+1G>A

SNV
Germline

Chr5:149896355

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504626

rs_781377291

3 SubmittersRCV000787638 RCV001073345 RCV001229110

NM_000440.3(PDE6A):c.1407+1G>A

SNV
Unknown

Chr5:149898362

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA3504715

rs_781616522

1 SubmittersRCV000787637

NM_000440.3(PDE6A):c.627+2T>G

SNV
Germline

Chr5:149934564

Pathogenic

Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361698139

rs_1581211727

3 SubmittersRCV000787642 RCV004818008 RCV006271658

NM_000440.3(PDE6A):c.2249G>A (p.Arg750His)

SNV
Germline

Chr5:149867750

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504352

rs_146145709

5 SubmittersRCV000970308 RCV005392598 RCV004740523

NM_000440.3(PDE6A):c.765C>T (p.Ile255=)

SNV
Germline

Chr5:149931121

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3504950

rs_141300510

2 SubmittersRCV000964993 RCV001156436

NM_000440.3(PDE6A):c.86G>A (p.Arg29Gln)

SNV
Germline

Chr5:149944588

Conflicting classifications of pathogenicity

Condition: not provided
PDE6A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3505148

rs_201008270

3 SubmittersRCV000888230 RCV003948393 RCV005384887

NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)

SNV
Germline

Chr5:149860952

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3504242

rs_376909494

2 SubmittersRCV000909718 RCV001152436

NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr)

SNV
Germline

Chr5:149944358

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3505078

rs_200696413

4 SubmittersRCV000903187 RCV001152640 RCV003890038 RCV004740499

NM_000440.3(PDE6A):c.102C>T (p.Ser34=)

SNV
Germline

Chr5:149944572

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3505146

rs_140009042

2 SubmittersRCV000910366 RCV001154774

NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)

SNV
Germline

Chr5:149867761

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA3504357

rs_145809648

3 SubmittersRCV000912740 RCV001153714

NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)

SNV
Unknown

Chr5:149895237

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA361695149

rs_375659222

1 SubmittersRCV000987615

NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr)

SNV
Germline

Chr5:149896366

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA361695293

rs_1581177868

2 SubmittersRCV000998466 RCV001199493

NM_000440.3(PDE6A):c.743T>A (p.Val248Asp)

SNV
Germline

Chr5:149931143

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA361696623

rs_1581209421

2 SubmittersRCV000998467 RCV001199498

NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)

SNV
Germline

Chr5:149884546

Pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361693348

rs_1581166539

3 SubmittersRCV001003111 RCV002272384

NM_000440.3(PDE6A):c.2506+1G>A

SNV
Germline

Chr5:149863118

Pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA361708804

rs_1561671507

1 SubmittersRCV001003109

NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln)

SNV
Germline

Chr5:149944636

Pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA361701584

rs_1754418004

1 SubmittersRCV001199497

NM_000440.3(PDE6A):c.1966G>T (p.Glu656Ter)

SNV
Germline

Chr5:149884540

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3504450

rs_199871385

1 SubmittersRCV001049804

NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter)

SNV
Germline

Chr5:149884863

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361693616

rs_1752223896

2 SubmittersRCV001060773

NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro)

SNV
Germline

Chr5:149895187

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504576

rs_759537984

2 SubmittersRCV001050508 RCV005056832

NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys)

SNV
Germline

Chr5:149944370

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA3505083

rs_141252097

3 SubmittersRCV001040968 RCV001724216

NM_000440.3(PDE6A):c.998+1G>A

SNV
Germline

Chr5:149914942

Pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 43
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3504845

rs_748946491

6 SubmittersRCV001060604 RCV001724223 RCV003225740 RCV004813663

NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter)

SNV
Germline

Chr5:149866226

Pathogenic

Retinal dystrophy
Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504330

rs_759563967

4 SubmittersRCV001073639 RCV001784630 RCV001381541

NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)

SNV
Germline

Chr5:149895222

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3504592

rs_776918069

5 SubmittersRCV001074263 RCV001226626 RCV002489721

NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)

SNV
Germline

Chr5:149931070

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361696466

rs_1754021035

3 SubmittersRCV001075135 RCV001268400

NM_000440.3(PDE6A):c.2506+7G>A

SNV
Germline

Chr5:149863112

Conflicting classifications of pathogenicity

Retinal dystrophy
Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Conflicting Classifications

CA563553945

rs_1382186195

3 SubmittersRCV001075219 RCV001376276 RCV002554749

NM_000440.3(PDE6A):c.2359-17C>T

SNV
Germline

Chr5:149863283

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504300

rs_368621811

2 SubmittersRCV001073267 RCV002069576

NM_000440.3(PDE6A):c.1620+2T>A

SNV
Germline

Chr5:149896354

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361695266

rs_1383907349

3 SubmittersRCV001074262 RCV002557908 RCV005036389

NM_000440.3(PDE6A):c.1407+1G>C

SNV
Germline

Chr5:149898362

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504714

rs_781616522

6 SubmittersRCV001073714 RCV001238495 RCV002497487

NM_000440.3(PDE6A):c.1263+1G>T

SNV
Germline

Chr5:149899374

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA3504750

rs_369896113

4 SubmittersRCV001073962 RCV001378941 RCV006698332

NM_000440.3(PDE6A):c.999-2A>G

SNV
Germline

Chr5:149907380

Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361698880

rs_1753232409

4 SubmittersRCV001073306 RCV001268816 RCV002505661

NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu)

SNV
Germline

Chr5:149863130

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504268

rs_750503504

2 SubmittersRCV001152438 RCV002557290

NM_000440.3(PDE6A):c.2322C>T (p.Val774=)

SNV
Germline

Chr5:149866206

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA447140695

rs_766767235

2 SubmittersRCV001153712 RCV001406173

NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)

SNV
Germline

Chr5:149883527

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504420

rs_140267699

2 SubmittersRCV001156328 RCV001489443

NM_000440.3(PDE6A):c.1965T>C (p.His655=)

SNV
Germline

Chr5:149884541

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504451

rs_753303277

2 SubmittersRCV001156329 RCV002559502

NM_000440.3(PDE6A):c.940A>C (p.Asn314His)

SNV
Germline

Chr5:149915001

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504855

rs_150755165

2 SubmittersRCV001153811 RCV002070875

NM_000440.3(PDE6A):c.363C>T (p.Leu121=)

SNV
Germline

Chr5:149944311

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505070

rs_767520227

2 SubmittersRCV001152639 RCV002070855

NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp)

SNV
Germline

Chr5:149944376

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3505086

rs_200540105

2 SubmittersRCV001153919 RCV001486691

NM_000440.3(PDE6A):c.285C>T (p.Ser95=)

SNV
Germline

Chr5:149944389

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3505091

rs_765008436

4 SubmittersRCV001153920 RCV002070877 RCV003898149

NM_000440.3(PDE6A):c.1728+13C>T

SNV
Germline

Chr5:149895170

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504570

rs_144868706

2 SubmittersRCV001157993 RCV002070947

NM_000440.3(PDE6A):c.2027+2T>G

SNV
Unknown

Chr5:149884477

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361693192

rs_1259637349

1 SubmittersRCV001196671

NM_000440.3(PDE6A):c.2525C>T (p.Pro842Leu)

SNV
Germline

Chr5:149860953

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504244

rs_542180384

3 SubmittersRCV001209224 RCV002561706 RCV004813876

NM_000440.3(PDE6A):c.2274+5G>C

SNV
Germline

Chr5:149867720

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1139659167

rs_1760382600

1 SubmittersRCV001210862

NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)

SNV
Germline

Chr5:149895226

Likely pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3504594

rs_373537826

3 SubmittersRCV003323829 RCV001235330

NM_000440.3(PDE6A):c.305G>A (p.Arg102His)

SNV
Germline

Chr5:149944369

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA129059224

rs_750539462

4 SubmittersRCV001246711 RCV005038008 RCV004814010

NM_000440.3(PDE6A):c.475-1G>T

SNV
Germline

Chr5:149934719

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361698699

rs_1754135016

1 SubmittersRCV001225586

NM_000440.3(PDE6A):c.1927-1G>T

SNV
Germline

Chr5:149884580

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361693419

rs_1761074706

1 SubmittersRCV001268366

NM_000440.3(PDE6A):c.998+2T>G

SNV
Germline

Chr5:149914941

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361699074

rs_1753505068

1 SubmittersRCV001268138

NM_000440.3(PDE6A):c.1958G>A (p.Arg653Gln)

SNV
Germline

Chr5:149884548

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3504452

rs_777944622

2 SubmittersRCV001322076 RCV004035051

NM_000440.3(PDE6A):c.2T>C (p.Met1Thr)

SNV
Germline

Chr5:149944672

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA129059540

rs_943943635

2 SubmittersRCV001340511 RCV005038097

NM_000440.3(PDE6A):c.1473+5G>A

SNV
Germline

Chr5:149896706

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3504678

rs_376233776

1 SubmittersRCV001362219

NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr5:149944469

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361700930

rs_1450419928

1 SubmittersRCV001376484

NM_000440.3(PDE6A):c.1113+1G>A

SNV
Germline

Chr5:149903647

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3504786

rs_372346866

1 SubmittersRCV001378134

NM_000440.3(PDE6A):c.2426G>A (p.Trp809Ter)

SNV
Germline

Chr5:149863199

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA129088380

rs_979416907

1 SubmittersRCV001380346

NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter)

SNV
Germline

Chr5:149899521

Pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361697145

rs_2113595869

2 SubmittersRCV001591813 RCV002569127

NM_000440.3(PDE6A):c.2317C>T (p.Gln773Ter)

SNV
Germline

Chr5:149866211

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA129052579

rs_770529851

1 SubmittersRCV001591815

NM_000440.3(PDE6A):c.2135+1G>T

SNV
Germline

Chr5:149883428

Pathogenic/Likely pathogenic

Retinitis pigmentosa 43
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361692197

rs_561600163

2 SubmittersRCV001591816 RCV002571158

NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)

SNV
Germline

Chr5:149895227

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA3504595

rs_759589388

4 SubmittersRCV001724800 RCV002032669 RCV003888315 RCV002503172

NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)

SNV
Germline

Chr5:149898484

Pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361696315

rs_1390479623

2 SubmittersRCV001910736 RCV002246599

NM_000440.3(PDE6A):c.1263+1G>A

SNV
Germline

Chr5:149899374

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA129072845

rs_369896113

1 SubmittersRCV002002368

NM_000440.3(PDE6A):c.2263C>T (p.Gln755Ter)

SNV
Germline

Chr5:149867736

Pathogenic

Condition: not provided
Retinitis pigmentosa 40

Criteria Provided
Multiple Submitters
No Conflicts

CA361688575

rs_2113507459

2 SubmittersRCV001950971 RCV006698430

NM_000440.3(PDE6A):c.628-1G>C

SNV
Germline

Chr5:149934020

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3504995

rs_753687039

1 SubmittersRCV002016693

NM_000440.3(PDE6A):c.457G>A (p.Val153Ile)

SNV
Germline

Chr5:149944217

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3505051

rs_556692354

2 SubmittersRCV001950435 RCV003247207

NM_000440.3(PDE6A):c.1032C>T (p.Ser344=)

SNV
Germline

Chr5:149907345

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
PDE6A-related disorder

Criteria Provided
Conflicting Classifications

CA3504829

rs_121918577

3 SubmittersRCV002125377 RCV003889070 RCV004741246

NM_000440.3(PDE6A):c.1838+1G>A

SNV
Germline

Chr5:149886264

Pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

CA361693636

rs_2113558095

1 SubmittersRCV002250182

NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)

SNV
Germline

Chr5:149899472

Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361696965

rs_1406110455

2 SubmittersRCV003037124 RCV005034604

NM_000440.3(PDE6A):c.924G>A (p.Pro308=)

SNV
Germline

Chr5:149921644

Conflicting classifications of pathogenicity

Condition: not provided
PDE6A-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3504892

rs_369194532

3 SubmittersRCV003063308 RCV003906474 RCV003889221

NM_000440.3(PDE6A):c.1065+1G>T

SNV
Germline

Chr5:149907311

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361698743

rs_2480610077

1 SubmittersRCV003112181

NM_000440.3(PDE6A):c.1631G>A (p.Arg544Gln)

SNV
Germline

Chr5:149895280

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Conflicting Classifications

CA3504606

rs_780572803

2 SubmittersRCV002626716 RCV006687336

NM_000440.3(PDE6A):c.1311T>A (p.Tyr437Ter)

SNV
Germline

Chr5:149898459

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361696262

rs_2480574461

1 SubmittersRCV002825532

NM_000440.3(PDE6A):c.1728+1G>A

SNV
Germline

Chr5:149895182

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361695035

rs_2480557976

1 SubmittersRCV002871894

NM_000440.3(PDE6A):c.1600A>T (p.Lys534Ter)

SNV
Germline

Chr5:149896376

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA361695319

rs_2480564545

1 SubmittersRCV002867611

NM_000440.3(PDE6A):c.1444T>C (p.Cys482Arg)

SNV
Germline

Chr5:149896740

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA361695936

rs_1386927449

2 SubmittersRCV003013996 RCV004794602

NM_000440.3(PDE6A):c.1363A>T (p.Lys455Ter)

SNV
Germline

Chr5:149898407

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3504720

rs_536201841

1 SubmittersRCV003555216

NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter)

SNV
Germline

Chr5:149898497

Likely pathogenic

Retinitis pigmentosa 43

No Assertion Criteria Provided

1 SubmittersRCV004691618

NM_000440.3(PDE6A):c.2358+1G>A

SNV
Germline

Chr5:149866169

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3504316

rs_1333137167

1 SubmittersRCV003851294

NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr5:149933932

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

CA361697772

rs_1366137772

2 SubmittersRCV003864117 RCV005038594

NM_000440.3(PDE6A):c.1202C>T (p.Ala401Val)

SNV
Germline

Chr5:149899436

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3504761

rs_769697401

2 SubmittersRCV004503164 RCV006564804

NM_000440.3(PDE6A):c.1927-1G>C

SNV
Germline

Chr5:149884580

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinitis pigmentosa 43

Criteria Provided
Multiple Submitters
No Conflicts

rs_1761074706

2 SubmittersRCV004560363 RCV006706409

NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)

SNV
Germline

Chr5:149899433

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814073

NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)

SNV
Germline

Chr5:149931098

Likely pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814277

NM_000440.3(PDE6A):c.1129G>T (p.Glu377Ter)

SNV
Germline

Chr5:149899509

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814285

NM_000440.3(PDE6A):c.84C>A (p.Tyr28Ter)

SNV
Germline

Chr5:149944590

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814447

NM_000440.3(PDE6A):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr5:149933941

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818701

NM_000440.3(PDE6A):c.1474-1G>A

SNV
Germline

Chr5:149896503

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004722063

NM_000440.3(PDE6A):c.2135+1G>A

SNV
Germline

Chr5:149883428

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV005035381

NM_000440.3(PDE6A):c.1066-1G>A

SNV
Germline

Chr5:149903696

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV005035382

NM_000440.3(PDE6A):c.934G>T (p.Glu312Ter)

SNV
Germline

Chr5:149915007

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV005043192

NM_000440.3(PDE6A):c.1503C>A (p.Tyr501Ter)

SNV
Germline

Chr5:149896473

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005153268

NM_000440.3(PDE6A):c.84C>G (p.Tyr28Ter)

SNV
Germline

Chr5:149944590

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005154445

NM_000440.3(PDE6A):c.948C>G (p.Tyr316Ter)

SNV
Germline

Chr5:149914993

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005199046

NM_000440.3(PDE6A):c.2198A>G (p.Gln733Arg)

SNV
Unknown

Chr5:149868096

Likely pathogenic

Retinitis pigmentosa 43

Criteria Provided
Single Submitter

1 SubmittersRCV006553828