Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006343.3(MERTK):c.1605-2A>G	SNV Germline	Chr2:112001199	Pathogenic	Retinitis pigmentosa 38 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253473	rs_730880273	3 SubmittersRCV000005732 RCV001071534 RCV001073657
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr2:112008466	Pathogenic	Retinitis pigmentosa 38 Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA253474	rs_119489105	5 SubmittersRCV000005733 RCV001054980 RCV001257901 RCV001723542 RCV004814840
NM_006343.3(MERTK):c.2189+1G>T	SNV Germline	Chr2:112019523	Pathogenic	Retinitis pigmentosa 38 Inborn genetic diseases Retinal dystrophy Condition: not provided Autosomal recessive retinitis pigmentosa Retinitis pigmentosa Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA253476	rs_371956016	11 SubmittersRCV000005734 RCV000624145 RCV001073654 RCV001208965 RCV001257903 RCV003324483 RCV005887321
NM_006343.3(MERTK):c.61+1G>A	SNV Germline	Chr2:111898797	Pathogenic	Retinitis pigmentosa 38	No Assertion Criteria Provided	CA348232703	rs_1573554264	1 SubmittersRCV000030843
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)	SNV Germline	Chr2:112021555	Pathogenic	Retinitis pigmentosa 38 Autosomal recessive retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA260612	rs_387907314	7 SubmittersRCV000030845 RCV001257797 RCV001852614 RCV004814930
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)	SNV Germline	Chr2:111898795	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 38 Uterine carcinosarcoma Thymoma Thyroid cancer, nonmedullary, 1 Acute myeloid leukemia Familial pancreatic carcinoma Lymphoma Malignant tumor of esophagus Adrenocortical carcinoma, hereditary Ovarian cancer Chronic lymphocytic leukemia/small lymphocytic lymphoma Sarcoma Nonpapillary renal cell carcinoma Cervical cancer	Criteria Provided Conflicting Classifications	CA148491	rs_35898499	7 SubmittersRCV000081391 RCV000086964 RCV000358600 RCV003389454 RCV005886516 RCV005886517 RCV005886518 RCV005886507 RCV005886513 RCV005886515 RCV005886508 RCV005886510 RCV005886512 RCV005886519 RCV005886514 RCV005886509 RCV005886511
NM_006343.3(MERTK):c.878G>A (p.Arg293His)	SNV Germline	Chr2:111968170	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA228917	rs_34072093	6 SubmittersRCV000086965 RCV001131835 RCV003888502 RCV006698066
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)	SNV Germline	Chr2:111994404	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinitis pigmentosa 38 Condition: not provided	Criteria Provided Conflicting Classifications	CA270098	rs_527236084	6 SubmittersRCV000132663 RCV000662015 RCV002515922
NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)	SNV Unknown	Chr2:111929428	Likely pathogenic	Retinitis pigmentosa 38	No Assertion Criteria Provided	CA270101	rs_527236134	1 SubmittersRCV000132665
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)	SNV Germline	Chr2:111929383	Pathogenic	Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 38 Condition: not provided	Criteria Provided Single Submitter	CA236067	rs_786205533	2 SubmittersRCV001257798 RCV003987405 RCV000171303
NM_006343.3(MERTK):c.1604+2T>G	SNV Germline	Chr2:111997478	Pathogenic	Condition: not provided Retinitis pigmentosa 38 Autosomal recessive retinitis pigmentosa	Criteria Provided Single Submitter	CA236069	rs_786205534	2 SubmittersRCV000171304 RCV003987406 RCV001257900
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)	SNV Germline	Chr2:112021494	Likely pathogenic	Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 38 Condition: not provided	Criteria Provided Single Submitter	CA236070	rs_786205535	2 SubmittersRCV001257796 RCV003987407 RCV000171305
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)	SNV Germline	Chr2:112028457	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 38 Retinitis pigmentosa MERTK-related disorder not specified	Criteria Provided Conflicting Classifications	CA241210	rs_2230516	9 SubmittersRCV000175453 RCV001001374 RCV001132911 RCV003895187 RCV006688547
NM_006343.3(MERTK):c.791C>G (p.Ala264Gly)	SNV Germline	Chr2:111965224	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA246114	rs_199779970	5 SubmittersRCV000178915 RCV001073248
NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)	SNV Unknown	Chr2:112021424	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA278959	rs_863224894	1 SubmittersRCV000197519
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)	SNV Germline	Chr2:112019513	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10581654	rs_878853354	4 SubmittersRCV000225669 RCV000505072 RCV001383851
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)	SNV Germline	Chr2:112021534	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA10581655	rs_878853353	3 SubmittersRCV000225591 RCV001854798 RCV001723812
NM_006343.3(MERTK):c.584-5C>T	SNV Germline	Chr2:111947389	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1831107	rs_747835003	2 SubmittersRCV000239270 RCV001408379
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)	SNV Germline	Chr2:111982958	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1831307	rs_142985827	6 SubmittersRCV000289934 RCV000729320 RCV004816572
NM_006343.3(MERTK):c.21G>T (p.Pro7=)	SNV Germline	Chr2:111898756	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA1830944	rs_752112582	2 SubmittersRCV000310645 RCV001478979
NM_006343.3(MERTK):c.138C>G (p.Asp46Glu)	SNV Germline	Chr2:111929196	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided MERTK-related disorder	Criteria Provided Conflicting Classifications	CA1830985	rs_527694612	3 SubmittersRCV000305032 RCV001410430 RCV003957700
NM_006343.3(MERTK):c.1960+8C>T	SNV Germline	Chr2:112008483	Conflicting classifications of pathogenicity	Retinitis pigmentosa not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1831595	rs_112541306	5 SubmittersRCV000274981 RCV001699459 RCV000894697
NM_006343.3(MERTK):c.2028C>T (p.Tyr676=)	SNV Germline	Chr2:112010015	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA1831643	rs_56225811	3 SubmittersRCV000332356 RCV000757464
NM_006343.3(MERTK):c.2142G>C (p.Leu714=)	SNV Germline	Chr2:112019475	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA1831722	rs_200363872	3 SubmittersRCV000383593 RCV001429313
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)	SNV Germline	Chr2:111965206	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA1831170	rs_35252762	3 SubmittersRCV000330591 RCV000594801
NM_006343.3(MERTK):c.960+9C>A	SNV Germline	Chr2:111968261	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided MERTK-related disorder	Criteria Provided Conflicting Classifications	CA1831231	rs_373198570	4 SubmittersRCV000352605 RCV000596593 RCV003950138
NM_006343.3(MERTK):c.996C>G (p.Val332=)	SNV Germline	Chr2:111975324	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA10611902	rs_886054757	2 SubmittersRCV000382076 RCV002057558
NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln)	SNV Germline	Chr2:111982959	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided MERTK-related disorder	Criteria Provided Conflicting Classifications	CA1831308	rs_138908058	3 SubmittersRCV000347356 RCV001417923 RCV004730935
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)	SNV Germline	Chr2:111994359	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA1831377	rs_79943145	4 SubmittersRCV000302738 RCV001074749 RCV001299809
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)	SNV Germline	Chr2:112022343	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa 38 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1831830	rs_141361084	9 SubmittersRCV000454548 RCV000727047 RCV001331567 RCV004816671
NM_006343.3(MERTK):c.584-1G>T	SNV Unknown	Chr2:111947393	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348228946	rs_1553449458	1 SubmittersRCV000502117
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	SNV Germline	Chr2:112019497	Pathogenic/Likely pathogenic	Retinitis pigmentosa Retinal dystrophy Condition: not provided Retinitis pigmentosa 38	Criteria Provided Multiple Submitters No Conflicts	CA1831727	rs_541717028	7 SubmittersRCV000504691 RCV001074082 RCV001049512 RCV002289688
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)	SNV Unknown	Chr2:112019512	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA1831729	rs_746238212	1 SubmittersRCV000504845
NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp)	SNV Germline	Chr2:112022268	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1831816	rs_747894786	3 SubmittersRCV000512692 RCV004817744
NM_006343.3(MERTK):c.1938C>T (p.His646=)	SNV Germline	Chr2:112008453	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA428275235	rs_1309440527	2 SubmittersRCV000594195
NM_006343.3(MERTK):c.1296+5G>A	SNV Unknown	Chr2:111982998	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA658795841	rs_1553454799	1 SubmittersRCV000622651
NM_006343.3(MERTK):c.2486+1G>A	SNV Germline	Chr2:112022395	Pathogenic	Retinitis pigmentosa 38 Retinal dystrophy	No Assertion Criteria Provided	CA348240272	rs_1309140887	2 SubmittersRCV000625642 RCV004817826
NM_006343.3(MERTK):c.2059C>T (p.Arg687Ter)	SNV Germline	Chr2:112010046	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348234198	rs_1553458060	1 SubmittersRCV000657795
NM_006343.3(MERTK):c.1137T>G (p.Thr379=)	SNV Germline	Chr2:111975465	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA428275072	rs_1558793454	2 SubmittersRCV000731908
NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys)	SNV Germline	Chr2:112001214	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 40	Criteria Provided Conflicting Classifications	CA1831487	rs_113485015	4 SubmittersRCV000757462 RCV001136225 RCV006698261
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)	SNV Germline	Chr2:111947502	Likely pathogenic	Retinitis pigmentosa 38	No Assertion Criteria Provided	CA348229185	rs_1573592033	1 SubmittersRCV000786937
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)	SNV Germline	Chr2:111929403	Pathogenic/Likely pathogenic	Retinitis pigmentosa Retinal dystrophy Condition: not provided Retinitis pigmentosa 38 MERTK-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1831017	rs_772421550	5 SubmittersRCV000787624 RCV001074011 RCV001230244 RCV002501026 RCV004756037
NM_006343.3(MERTK):c.757+1G>A	SNV Unknown	Chr2:111947568	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA348229389	rs_1573592124	1 SubmittersRCV000787625
NM_006343.3(MERTK):c.960+1G>A	SNV Unknown	Chr2:111968253	Likely pathogenic	Retinitis pigmentosa	No Assertion Criteria Provided	CA348232412	rs_1573607809	1 SubmittersRCV000787626
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val)	SNV Germline	Chr2:112021537	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA1831793	rs_147899488	5 SubmittersRCV000787914 RCV001055088 RCV005392382
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)	SNV Germline	Chr2:111975314	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA1831255	rs_34943572	6 SubmittersRCV000964245 RCV001131836 RCV003890123 RCV005392591
NM_006343.3(MERTK):c.1296+1G>C	SNV Unknown	Chr2:111982994	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348235964	rs_774577413	1 SubmittersRCV000986796
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)	SNV Unknown	Chr2:112021535	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA1831792	rs_778383770	1 SubmittersRCV000986797
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)	SNV Germline	Chr2:112028394	Pathogenic	Retinitis pigmentosa 38 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA1831920	rs_746291728	5 SubmittersRCV000986798 RCV001389819 RCV004818093
NM_006343.3(MERTK):c.1296+1G>A	SNV Germline	Chr2:111982994	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 38 Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA1831320	rs_774577413	5 SubmittersRCV000997192 RCV001724205 RCV002249605 RCV005912254
NM_006343.3(MERTK):c.1450+2T>G	SNV Germline	Chr2:111994406	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348230147	rs_1573627154	1 SubmittersRCV001002387
NM_006343.3(MERTK):c.2162A>C (p.His721Pro)	SNV Germline	Chr2:112019495	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348236872	rs_778005207	1 SubmittersRCV001001044
NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr)	SNV Germline	Chr2:112028371	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA348242212	rs_1677512620	2 SubmittersRCV001199706 RCV005243446
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)	SNV Germline	Chr2:111929156	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Optic atrophy	Criteria Provided Conflicting Classifications	CA1830976	rs_144751432	3 SubmittersRCV001059261 RCV001136136 RCV004813657
NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter)	SNV Germline	Chr2:112008383	Pathogenic	Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA348233056	rs_780007963	2 SubmittersRCV001053636 RCV001249884
NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)	SNV Germline	Chr2:112022375	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA1831835	rs_55924349	3 SubmittersRCV001055389 RCV001131965 RCV005394693
NM_006343.3(MERTK):c.263C>T (p.Ser88Leu)	SNV Germline	Chr2:111929321	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA1831007	rs_372527246	4 SubmittersRCV001074444 RCV001341613 RCV005250134
NM_006343.3(MERTK):c.604C>T (p.Gln202Ter)	SNV Germline	Chr2:111947414	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter	CA348228992	rs_1684979540	1 SubmittersRCV001073379
NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter)	SNV Germline	Chr2:112001268	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348232295	rs_774755041	2 SubmittersRCV001075276 RCV001390478
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)	SNV Germline	Chr2:112019496	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA1831726	rs_749472520	4 SubmittersRCV001075240 RCV001268234
NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly)	SNV Germline	Chr2:112019497	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA348236877	rs_541717028	2 SubmittersRCV001073890 RCV002298869
NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter)	SNV Germline	Chr2:112019512	Pathogenic	Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA348236942	rs_746238212	4 SubmittersRCV001090264 RCV001073813
NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys)	SNV Germline	Chr2:112022326	Conflicting classifications of pathogenicity	Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1831828	rs_757858711	2 SubmittersRCV001073595 RCV003259086
NM_006343.3(MERTK):c.2486+6T>A	SNV Germline	Chr2:112022400	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA1831840	rs_772204397	3 SubmittersRCV001074445 RCV001300513 RCV005250135
NM_006343.3(MERTK):c.756A>C (p.Pro252=)	SNV Germline	Chr2:111947566	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided MERTK-related disorder Retinal dystrophy Gastric cancer Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA1831142	rs_3761702	5 SubmittersRCV001129154 RCV001427984 RCV003973094 RCV003890278 RCV005913814 RCV005913815
NM_006343.3(MERTK):c.2202C>T (p.Asp734=)	SNV Germline	Chr2:112021434	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA428276168	rs_1323896467	2 SubmittersRCV001131962 RCV002070541
NM_006343.3(MERTK):c.2590G>T (p.Val864Phe)	SNV Germline	Chr2:112028454	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA1831930	rs_557004700	2 SubmittersRCV001131968 RCV001482387
NM_006343.3(MERTK):c.844+2T>C	SNV Germline	Chr2:111965279	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348231206	rs_1685339034	1 SubmittersRCV001213925
NM_006343.3(MERTK):c.2726G>A (p.Arg909His)	SNV Germline	Chr2:112028590	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA1831956	rs_149131360	2 SubmittersRCV001244135 RCV003887961
NM_006343.3(MERTK):c.1787-2A>T	SNV Germline	Chr2:112003902	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA53579274	rs_978833430	2 SubmittersRCV001234792
NM_006343.3(MERTK):c.2079+2T>G	SNV Germline	Chr2:112010068	Pathogenic	Autosomal recessive retinitis pigmentosa Condition: not provided	Criteria Provided Single Submitter	CA348234246	rs_1677065097	2 SubmittersRCV001257902 RCV001389470
NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)	SNV Germline	Chr2:112021451	Pathogenic	Autosomal recessive retinitis pigmentosa	No Assertion Criteria Provided	CA53591400	rs_911057284	1 SubmittersRCV001257904
NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter)	SNV Germline	Chr2:112003960	Pathogenic	Retinitis pigmentosa 38	No Assertion Criteria Provided	CA348232902	rs_1676926630	1 SubmittersRCV001267880
NM_006343.3(MERTK):c.1689C>A (p.Thr563=)	SNV Germline	Chr2:112001285	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA428274542	rs_1676864249	1 SubmittersRCV001268198
NM_006343.3(MERTK):c.1690+1G>A	SNV Germline	Chr2:112001287	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA1831503	rs_761251269	1 SubmittersRCV001268631
NM_006343.3(MERTK):c.1690+3A>T	SNV Germline	Chr2:112001289	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA1139657181	rs_1676864420	1 SubmittersRCV001268632
NM_006343.3(MERTK):c.1133C>T (p.Thr378Met)	SNV Germline	Chr2:111975461	Conflicting classifications of pathogenicity	Condition: not provided Retinal disorder	Criteria Provided Conflicting Classifications	CA1831272	rs_745461381	2 SubmittersRCV001316128 RCV006272096
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)	SNV Germline	Chr2:111975418	Pathogenic	Retinitis pigmentosa 38 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348233673	rs_868566811	2 SubmittersRCV001376204 RCV002550230
NM_006343.3(MERTK):c.2190-1G>T	SNV Germline	Chr2:112021421	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348238584	rs_2104423659	1 SubmittersRCV001376471
NM_006343.3(MERTK):c.1144+1G>A	SNV Germline	Chr2:111975473	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348233895	rs_2104733978	2 SubmittersRCV001379632
NM_006343.3(MERTK):c.1868-1G>A	SNV Germline	Chr2:112008382	Pathogenic	Condition: not provided Retinitis pigmentosa 38	Criteria Provided Multiple Submitters No Conflicts	CA348233050	rs_2104411620	2 SubmittersRCV001379339 RCV005866983
NM_006343.3(MERTK):c.2809G>A (p.Glu937Lys)	SNV Germline	Chr2:112028673	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases MERTK-related disorder	Criteria Provided Conflicting Classifications	CA1831978	rs_141647333	4 SubmittersRCV001472832 RCV002561963 RCV004756252
NM_006343.3(MERTK):c.2190-2A>G	SNV Unknown	Chr2:112021420	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348238576	rs_2104423657	1 SubmittersRCV001801331
NM_006343.3(MERTK):c.2020A>G (p.Met674Val)	SNV Germline	Chr2:112010007	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348234114	rs_2104413016	1 SubmittersRCV001823334
NM_006343.3(MERTK):c.1100G>A (p.Trp367Ter)	SNV Germline	Chr2:111975428	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348233707	rs_2104733931	1 SubmittersRCV002004532
NM_006343.3(MERTK):c.483-1G>C	SNV Germline	Chr2:111944959	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348228327	rs_1684937955	1 SubmittersRCV001993425
NM_006343.3(MERTK):c.2187C>A (p.Cys729Ter)	SNV Germline	Chr2:112019520	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348237007	rs_2104421764	1 SubmittersRCV001981896
NM_006343.3(MERTK):c.2352G>A (p.Trp784Ter)	SNV Germline	Chr2:112022260	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348239814	rs_2104424446	1 SubmittersRCV001914582
NM_006343.3(MERTK):c.2435A>G (p.Tyr812Cys)	SNV Germline	Chr2:112022343	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy MERTK-related disorder Retinitis pigmentosa 38	Criteria Provided Conflicting Classifications	CA1831831	rs_141361084	4 SubmittersRCV002204833 RCV003889031 RCV004756352 RCV005397302
NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)	SNV Germline	Chr2:112001243	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348232210	rs_1676862579	1 SubmittersRCV002255114
NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)	SNV Germline	Chr2:112021426	Pathogenic	Autosomal recessive retinitis pigmentosa Retinal dystrophy	Criteria Provided Single Submitter	CA53591319	rs_890258715	2 SubmittersRCV003108009 RCV004794583
NM_006343.3(MERTK):c.1186G>T (p.Glu396Ter)	SNV Germline	Chr2:111982883	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348235392	rs_2466843671	1 SubmittersRCV002651501
NM_006343.3(MERTK):c.912G>A (p.Trp304Ter)	SNV Germline	Chr2:111968204	Pathogenic	Condition: not provided Retinitis pigmentosa 38	Criteria Provided Multiple Submitters No Conflicts	CA1831224	rs_779211043	2 SubmittersRCV003032010 RCV005254670
NM_006343.3(MERTK):c.263C>G (p.Ser88Ter)	SNV Germline	Chr2:111929321	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348226261	rs_372527246	1 SubmittersRCV003043019
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)	SNV Germline	Chr2:112021441	Likely pathogenic	Retinitis pigmentosa	Criteria Provided Single Submitter	CA348238748	rs_142721656	1 SubmittersRCV003324701
NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)	SNV Germline	Chr2:111947531	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 38	Criteria Provided Multiple Submitters No Conflicts	CA348229254	rs_2466781317	2 SubmittersRCV003554956 RCV004798982
NM_006343.3(MERTK):c.2389G>T (p.Gly797Ter)	SNV Germline	Chr2:112022297	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA348240019	rs_2466916908	1 SubmittersRCV003673830
NM_006343.3(MERTK):c.732A>G (p.Lys244=)	SNV Germline	Chr2:111947542	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA428270400	rs_1265437249	2 SubmittersRCV003679987 RCV003889316
NM_006343.3(MERTK):c.2531G>A (p.Arg844His)	SNV Germline	Chr2:112028395	Pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa 38	Criteria Provided Multiple Submitters No Conflicts	CA1831921	rs_746671363	3 SubmittersRCV003827611 RCV004818423 RCV006706386
NM_006343.3(MERTK):c.978G>A (p.Pro326=)	SNV Germline	Chr2:111975306	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA1831252	rs_112257146	2 SubmittersRCV003890736 RCV005063217
NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)	SNV Germline	Chr2:112021459	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter	CA348238877	rs_1573648098	1 SubmittersRCV003990571
NM_006343.3(MERTK):c.1960+1G>A	SNV Germline	Chr2:112008476	Pathogenic	Retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004814213
NM_006343.3(MERTK):c.1296+2T>G	SNV Germline	Chr2:111982995	Pathogenic	Retinal dystrophy Condition: not provided	Criteria Provided Single Submitter			2 SubmittersRCV004814339 RCV005059571
NM_006343.3(MERTK):c.1787-2A>C	SNV Germline	Chr2:112003902	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004818698
NM_006343.3(MERTK):c.2350-2A>C	SNV Germline	Chr2:112022256	Pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004818725
NM_006343.3(MERTK):c.1787-2A>G	SNV Germline	Chr2:112003902	Likely pathogenic	Retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004795310
NM_006343.3(MERTK):c.655C>T (p.Gln219Ter)	SNV Germline	Chr2:111947465	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005119443
NM_006343.3(MERTK):c.1702G>T (p.Gly568Ter)	SNV Germline	Chr2:112003103	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005141071
NM_006343.3(MERTK):c.2510G>A (p.Trp837Ter)	SNV Germline	Chr2:112028374	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005150851
NM_006343.3(MERTK):c.841A>G (p.Lys281Glu)	SNV Germline	Chr2:111965274	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter			1 SubmittersRCV006262316
NM_006343.3(MERTK):c.1867+1G>A	SNV Germline	Chr2:112003985	Likely pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter			1 SubmittersRCV006605100
NM_006343.3(MERTK):c.1333C>T (p.Arg445Ter)	SNV Germline	Chr2:111994287	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006626907
NM_006343.3(MERTK):c.390G>A (p.Trp130Ter)	SNV Germline	Chr2:111929448	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter			1 SubmittersRCV006704187
NM_006343.3(MERTK):c.961-2A>G	SNV Germline	Chr2:111975287	Pathogenic	Retinitis pigmentosa 38	Criteria Provided Single Submitter			1 SubmittersRCV006704368

NM_006343.3(MERTK):c.1605-2A>G

SNV
Germline

Chr2:112001199

Pathogenic

Retinitis pigmentosa 38
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253473

rs_730880273

3 SubmittersRCV000005732 RCV001071534 RCV001073657

NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)

SNV
Germline

Chr2:112008466

Pathogenic

Retinitis pigmentosa 38
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA253474

rs_119489105

5 SubmittersRCV000005733 RCV001054980 RCV001257901 RCV001723542 RCV004814840

NM_006343.3(MERTK):c.2189+1G>T

SNV
Germline

Chr2:112019523

Pathogenic

Retinitis pigmentosa 38
Inborn genetic diseases
Retinal dystrophy
Condition: not provided
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA253476

rs_371956016

11 SubmittersRCV000005734 RCV000624145 RCV001073654 RCV001208965 RCV001257903 RCV003324483 RCV005887321

NM_006343.3(MERTK):c.61+1G>A

SNV
Germline

Chr2:111898797

Pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA348232703

rs_1573554264

1 SubmittersRCV000030843

NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)

SNV
Germline

Chr2:112021555

Pathogenic

Retinitis pigmentosa 38
Autosomal recessive retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA260612

rs_387907314

7 SubmittersRCV000030845 RCV001257797 RCV001852614 RCV004814930

NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)

SNV
Germline

Chr2:111898795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38
Uterine carcinosarcoma
Thymoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia
Familial pancreatic carcinoma
Lymphoma
Malignant tumor of esophagus
Adrenocortical carcinoma, hereditary
Ovarian cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma
Nonpapillary renal cell carcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA148491

rs_35898499

7 SubmittersRCV000081391 RCV000086964 RCV000358600 RCV003389454 RCV005886516 RCV005886517 RCV005886518 RCV005886507 RCV005886513 RCV005886515 RCV005886508 RCV005886510 RCV005886512 RCV005886519 RCV005886514 RCV005886509 RCV005886511

NM_006343.3(MERTK):c.878G>A (p.Arg293His)

SNV
Germline

Chr2:111968170

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA228917

rs_34072093

6 SubmittersRCV000086965 RCV001131835 RCV003888502 RCV006698066

NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)

SNV
Germline

Chr2:111994404

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Conflicting Classifications

CA270098

rs_527236084

6 SubmittersRCV000132663 RCV000662015 RCV002515922

NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)

SNV
Unknown

Chr2:111929428

Likely pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA270101

rs_527236134

1 SubmittersRCV000132665

NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)

SNV
Germline

Chr2:111929383

Pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Single Submitter

CA236067

rs_786205533

2 SubmittersRCV001257798 RCV003987405 RCV000171303

NM_006343.3(MERTK):c.1604+2T>G

SNV
Germline

Chr2:111997478

Pathogenic

Condition: not provided
Retinitis pigmentosa 38
Autosomal recessive retinitis pigmentosa

Criteria Provided
Single Submitter

CA236069

rs_786205534

2 SubmittersRCV000171304 RCV003987406 RCV001257900

NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)

SNV
Germline

Chr2:112021494

Likely pathogenic

Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Single Submitter

CA236070

rs_786205535

2 SubmittersRCV001257796 RCV003987407 RCV000171305

NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)

SNV
Germline

Chr2:112028457

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 38
Retinitis pigmentosa
MERTK-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA241210

rs_2230516

9 SubmittersRCV000175453 RCV001001374 RCV001132911 RCV003895187 RCV006688547

NM_006343.3(MERTK):c.791C>G (p.Ala264Gly)

SNV
Germline

Chr2:111965224

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA246114

rs_199779970

5 SubmittersRCV000178915 RCV001073248

NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)

SNV
Unknown

Chr2:112021424

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA278959

rs_863224894

1 SubmittersRCV000197519

NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)

SNV
Germline

Chr2:112019513

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10581654

rs_878853354

4 SubmittersRCV000225669 RCV000505072 RCV001383851

NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr)

SNV
Germline

Chr2:112021534

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA10581655

rs_878853353

3 SubmittersRCV000225591 RCV001854798 RCV001723812

NM_006343.3(MERTK):c.584-5C>T

SNV
Germline

Chr2:111947389

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831107

rs_747835003

2 SubmittersRCV000239270 RCV001408379

NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)

SNV
Germline

Chr2:111982958

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831307

rs_142985827

6 SubmittersRCV000289934 RCV000729320 RCV004816572

NM_006343.3(MERTK):c.21G>T (p.Pro7=)

SNV
Germline

Chr2:111898756

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1830944

rs_752112582

2 SubmittersRCV000310645 RCV001478979

NM_006343.3(MERTK):c.138C>G (p.Asp46Glu)

SNV
Germline

Chr2:111929196

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA1830985

rs_527694612

3 SubmittersRCV000305032 RCV001410430 RCV003957700

NM_006343.3(MERTK):c.1960+8C>T

SNV
Germline

Chr2:112008483

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831595

rs_112541306

5 SubmittersRCV000274981 RCV001699459 RCV000894697

NM_006343.3(MERTK):c.2028C>T (p.Tyr676=)

SNV
Germline

Chr2:112010015

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831643

rs_56225811

3 SubmittersRCV000332356 RCV000757464

NM_006343.3(MERTK):c.2142G>C (p.Leu714=)

SNV
Germline

Chr2:112019475

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831722

rs_200363872

3 SubmittersRCV000383593 RCV001429313

NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)

SNV
Germline

Chr2:111965206

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831170

rs_35252762

3 SubmittersRCV000330591 RCV000594801

NM_006343.3(MERTK):c.960+9C>A

SNV
Germline

Chr2:111968261

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA1831231

rs_373198570

4 SubmittersRCV000352605 RCV000596593 RCV003950138

NM_006343.3(MERTK):c.996C>G (p.Val332=)

SNV
Germline

Chr2:111975324

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611902

rs_886054757

2 SubmittersRCV000382076 RCV002057558

NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln)

SNV
Germline

Chr2:111982959

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA1831308

rs_138908058

3 SubmittersRCV000347356 RCV001417923 RCV004730935

NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)

SNV
Germline

Chr2:111994359

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831377

rs_79943145

4 SubmittersRCV000302738 RCV001074749 RCV001299809

NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)

SNV
Germline

Chr2:112022343

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa 38
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831830

rs_141361084

9 SubmittersRCV000454548 RCV000727047 RCV001331567 RCV004816671

NM_006343.3(MERTK):c.584-1G>T

SNV
Unknown

Chr2:111947393

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348228946

rs_1553449458

1 SubmittersRCV000502117

NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)

SNV
Germline

Chr2:112019497

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA1831727

rs_541717028

7 SubmittersRCV000504691 RCV001074082 RCV001049512 RCV002289688

NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)

SNV
Unknown

Chr2:112019512

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA1831729

rs_746238212

1 SubmittersRCV000504845

NM_006343.3(MERTK):c.2360G>A (p.Gly787Asp)

SNV
Germline

Chr2:112022268

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831816

rs_747894786

3 SubmittersRCV000512692 RCV004817744

NM_006343.3(MERTK):c.1938C>T (p.His646=)

SNV
Germline

Chr2:112008453

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA428275235

rs_1309440527

2 SubmittersRCV000594195

NM_006343.3(MERTK):c.1296+5G>A

SNV
Unknown

Chr2:111982998

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA658795841

rs_1553454799

1 SubmittersRCV000622651

NM_006343.3(MERTK):c.2486+1G>A

SNV
Germline

Chr2:112022395

Pathogenic

Retinitis pigmentosa 38
Retinal dystrophy

No Assertion Criteria Provided

CA348240272

rs_1309140887

2 SubmittersRCV000625642 RCV004817826

NM_006343.3(MERTK):c.2059C>T (p.Arg687Ter)

SNV
Germline

Chr2:112010046

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348234198

rs_1553458060

1 SubmittersRCV000657795

NM_006343.3(MERTK):c.1137T>G (p.Thr379=)

SNV
Germline

Chr2:111975465

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA428275072

rs_1558793454

2 SubmittersRCV000731908

NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys)

SNV
Germline

Chr2:112001214

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 40

Criteria Provided
Conflicting Classifications

CA1831487

rs_113485015

4 SubmittersRCV000757462 RCV001136225 RCV006698261

NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)

SNV
Germline

Chr2:111947502

Likely pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA348229185

rs_1573592033

1 SubmittersRCV000786937

NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)

SNV
Germline

Chr2:111929403

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38
MERTK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1831017

rs_772421550

5 SubmittersRCV000787624 RCV001074011 RCV001230244 RCV002501026 RCV004756037

NM_006343.3(MERTK):c.757+1G>A

SNV
Unknown

Chr2:111947568

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA348229389

rs_1573592124

1 SubmittersRCV000787625

NM_006343.3(MERTK):c.960+1G>A

SNV
Unknown

Chr2:111968253

Likely pathogenic

Retinitis pigmentosa

No Assertion Criteria Provided

CA348232412

rs_1573607809

1 SubmittersRCV000787626

NM_006343.3(MERTK):c.2305A>G (p.Ile769Val)

SNV
Germline

Chr2:112021537

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831793

rs_147899488

5 SubmittersRCV000787914 RCV001055088 RCV005392382

NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)

SNV
Germline

Chr2:111975314

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831255

rs_34943572

6 SubmittersRCV000964245 RCV001131836 RCV003890123 RCV005392591

NM_006343.3(MERTK):c.1296+1G>C

SNV
Unknown

Chr2:111982994

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348235964

rs_774577413

1 SubmittersRCV000986796

NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)

SNV
Unknown

Chr2:112021535

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA1831792

rs_778383770

1 SubmittersRCV000986797

NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)

SNV
Germline

Chr2:112028394

Pathogenic

Retinitis pigmentosa 38
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA1831920

rs_746291728

5 SubmittersRCV000986798 RCV001389819 RCV004818093

NM_006343.3(MERTK):c.1296+1G>A

SNV
Germline

Chr2:111982994

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA1831320

rs_774577413

5 SubmittersRCV000997192 RCV001724205 RCV002249605 RCV005912254

NM_006343.3(MERTK):c.1450+2T>G

SNV
Germline

Chr2:111994406

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348230147

rs_1573627154

1 SubmittersRCV001002387

NM_006343.3(MERTK):c.2162A>C (p.His721Pro)

SNV
Germline

Chr2:112019495

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348236872

rs_778005207

1 SubmittersRCV001001044

NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr)

SNV
Germline

Chr2:112028371

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348242212

rs_1677512620

2 SubmittersRCV001199706 RCV005243446

NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)

SNV
Germline

Chr2:111929156

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Optic atrophy

Criteria Provided
Conflicting Classifications

CA1830976

rs_144751432

3 SubmittersRCV001059261 RCV001136136 RCV004813657

NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter)

SNV
Germline

Chr2:112008383

Pathogenic

Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA348233056

rs_780007963

2 SubmittersRCV001053636 RCV001249884

NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)

SNV
Germline

Chr2:112022375

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831835

rs_55924349

3 SubmittersRCV001055389 RCV001131965 RCV005394693

NM_006343.3(MERTK):c.263C>T (p.Ser88Leu)

SNV
Germline

Chr2:111929321

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831007

rs_372527246

4 SubmittersRCV001074444 RCV001341613 RCV005250134

NM_006343.3(MERTK):c.604C>T (p.Gln202Ter)

SNV
Germline

Chr2:111947414

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

CA348228992

rs_1684979540

1 SubmittersRCV001073379

NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter)

SNV
Germline

Chr2:112001268

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348232295

rs_774755041

2 SubmittersRCV001075276 RCV001390478

NM_006343.3(MERTK):c.2163T>A (p.His721Gln)

SNV
Germline

Chr2:112019496

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831726

rs_749472520

4 SubmittersRCV001075240 RCV001268234

NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly)

SNV
Germline

Chr2:112019497

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348236877

rs_541717028

2 SubmittersRCV001073890 RCV002298869

NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter)

SNV
Germline

Chr2:112019512

Pathogenic

Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA348236942

rs_746238212

4 SubmittersRCV001090264 RCV001073813

NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys)

SNV
Germline

Chr2:112022326

Conflicting classifications of pathogenicity

Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1831828

rs_757858711

2 SubmittersRCV001073595 RCV003259086

NM_006343.3(MERTK):c.2486+6T>A

SNV
Germline

Chr2:112022400

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831840

rs_772204397

3 SubmittersRCV001074445 RCV001300513 RCV005250135

NM_006343.3(MERTK):c.756A>C (p.Pro252=)

SNV
Germline

Chr2:111947566

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
MERTK-related disorder
Retinal dystrophy
Gastric cancer
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA1831142

rs_3761702

5 SubmittersRCV001129154 RCV001427984 RCV003973094 RCV003890278 RCV005913814 RCV005913815

NM_006343.3(MERTK):c.2202C>T (p.Asp734=)

SNV
Germline

Chr2:112021434

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA428276168

rs_1323896467

2 SubmittersRCV001131962 RCV002070541

NM_006343.3(MERTK):c.2590G>T (p.Val864Phe)

SNV
Germline

Chr2:112028454

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831930

rs_557004700

2 SubmittersRCV001131968 RCV001482387

NM_006343.3(MERTK):c.844+2T>C

SNV
Germline

Chr2:111965279

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348231206

rs_1685339034

1 SubmittersRCV001213925

NM_006343.3(MERTK):c.2726G>A (p.Arg909His)

SNV
Germline

Chr2:112028590

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA1831956

rs_149131360

2 SubmittersRCV001244135 RCV003887961

NM_006343.3(MERTK):c.1787-2A>T

SNV
Germline

Chr2:112003902

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA53579274

rs_978833430

2 SubmittersRCV001234792

NM_006343.3(MERTK):c.2079+2T>G

SNV
Germline

Chr2:112010068

Pathogenic

Autosomal recessive retinitis pigmentosa
Condition: not provided

Criteria Provided
Single Submitter

CA348234246

rs_1677065097

2 SubmittersRCV001257902 RCV001389470

NM_006343.3(MERTK):c.2219C>T (p.Ala740Val)

SNV
Germline

Chr2:112021451

Pathogenic

Autosomal recessive retinitis pigmentosa

No Assertion Criteria Provided

CA53591400

rs_911057284

1 SubmittersRCV001257904

NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter)

SNV
Germline

Chr2:112003960

Pathogenic

Retinitis pigmentosa 38

No Assertion Criteria Provided

CA348232902

rs_1676926630

1 SubmittersRCV001267880

NM_006343.3(MERTK):c.1689C>A (p.Thr563=)

SNV
Germline

Chr2:112001285

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA428274542

rs_1676864249

1 SubmittersRCV001268198

NM_006343.3(MERTK):c.1690+1G>A

SNV
Germline

Chr2:112001287

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1831503

rs_761251269

1 SubmittersRCV001268631

NM_006343.3(MERTK):c.1690+3A>T

SNV
Germline

Chr2:112001289

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA1139657181

rs_1676864420

1 SubmittersRCV001268632

NM_006343.3(MERTK):c.1133C>T (p.Thr378Met)

SNV
Germline

Chr2:111975461

Conflicting classifications of pathogenicity

Condition: not provided
Retinal disorder

Criteria Provided
Conflicting Classifications

CA1831272

rs_745461381

2 SubmittersRCV001316128 RCV006272096

NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr2:111975418

Pathogenic

Retinitis pigmentosa 38
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348233673

rs_868566811

2 SubmittersRCV001376204 RCV002550230

NM_006343.3(MERTK):c.2190-1G>T

SNV
Germline

Chr2:112021421

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348238584

rs_2104423659

1 SubmittersRCV001376471

NM_006343.3(MERTK):c.1144+1G>A

SNV
Germline

Chr2:111975473

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348233895

rs_2104733978

2 SubmittersRCV001379632

NM_006343.3(MERTK):c.1868-1G>A

SNV
Germline

Chr2:112008382

Pathogenic

Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA348233050

rs_2104411620

2 SubmittersRCV001379339 RCV005866983

NM_006343.3(MERTK):c.2809G>A (p.Glu937Lys)

SNV
Germline

Chr2:112028673

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
MERTK-related disorder

Criteria Provided
Conflicting Classifications

CA1831978

rs_141647333

4 SubmittersRCV001472832 RCV002561963 RCV004756252

NM_006343.3(MERTK):c.2190-2A>G

SNV
Unknown

Chr2:112021420

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348238576

rs_2104423657

1 SubmittersRCV001801331

NM_006343.3(MERTK):c.2020A>G (p.Met674Val)

SNV
Germline

Chr2:112010007

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348234114

rs_2104413016

1 SubmittersRCV001823334

NM_006343.3(MERTK):c.1100G>A (p.Trp367Ter)

SNV
Germline

Chr2:111975428

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348233707

rs_2104733931

1 SubmittersRCV002004532

NM_006343.3(MERTK):c.483-1G>C

SNV
Germline

Chr2:111944959

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348228327

rs_1684937955

1 SubmittersRCV001993425

NM_006343.3(MERTK):c.2187C>A (p.Cys729Ter)

SNV
Germline

Chr2:112019520

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348237007

rs_2104421764

1 SubmittersRCV001981896

NM_006343.3(MERTK):c.2352G>A (p.Trp784Ter)

SNV
Germline

Chr2:112022260

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348239814

rs_2104424446

1 SubmittersRCV001914582

NM_006343.3(MERTK):c.2435A>G (p.Tyr812Cys)

SNV
Germline

Chr2:112022343

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
MERTK-related disorder
Retinitis pigmentosa 38

Criteria Provided
Conflicting Classifications

CA1831831

rs_141361084

4 SubmittersRCV002204833 RCV003889031 RCV004756352 RCV005397302

NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)

SNV
Germline

Chr2:112001243

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348232210

rs_1676862579

1 SubmittersRCV002255114

NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)

SNV
Germline

Chr2:112021426

Pathogenic

Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Single Submitter

CA53591319

rs_890258715

2 SubmittersRCV003108009 RCV004794583

NM_006343.3(MERTK):c.1186G>T (p.Glu396Ter)

SNV
Germline

Chr2:111982883

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348235392

rs_2466843671

1 SubmittersRCV002651501

NM_006343.3(MERTK):c.912G>A (p.Trp304Ter)

SNV
Germline

Chr2:111968204

Pathogenic

Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA1831224

rs_779211043

2 SubmittersRCV003032010 RCV005254670

NM_006343.3(MERTK):c.263C>G (p.Ser88Ter)

SNV
Germline

Chr2:111929321

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348226261

rs_372527246

1 SubmittersRCV003043019

NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)

SNV
Germline

Chr2:112021441

Likely pathogenic

Retinitis pigmentosa

Criteria Provided
Single Submitter

CA348238748

rs_142721656

1 SubmittersRCV003324701

NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr2:111947531

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA348229254

rs_2466781317

2 SubmittersRCV003554956 RCV004798982

NM_006343.3(MERTK):c.2389G>T (p.Gly797Ter)

SNV
Germline

Chr2:112022297

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA348240019

rs_2466916908

1 SubmittersRCV003673830

NM_006343.3(MERTK):c.732A>G (p.Lys244=)

SNV
Germline

Chr2:111947542

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA428270400

rs_1265437249

2 SubmittersRCV003679987 RCV003889316

NM_006343.3(MERTK):c.2531G>A (p.Arg844His)

SNV
Germline

Chr2:112028395

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 38

Criteria Provided
Multiple Submitters
No Conflicts

CA1831921

rs_746671363

3 SubmittersRCV003827611 RCV004818423 RCV006706386

NM_006343.3(MERTK):c.978G>A (p.Pro326=)

SNV
Germline

Chr2:111975306

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1831252

rs_112257146

2 SubmittersRCV003890736 RCV005063217

NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)

SNV
Germline

Chr2:112021459

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

CA348238877

rs_1573648098

1 SubmittersRCV003990571

NM_006343.3(MERTK):c.1960+1G>A

SNV
Germline

Chr2:112008476

Pathogenic

Retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004814213

NM_006343.3(MERTK):c.1296+2T>G

SNV
Germline

Chr2:111982995

Pathogenic

Retinal dystrophy
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV004814339 RCV005059571

NM_006343.3(MERTK):c.1787-2A>C

SNV
Germline

Chr2:112003902

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818698

NM_006343.3(MERTK):c.2350-2A>C

SNV
Germline

Chr2:112022256

Pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004818725

NM_006343.3(MERTK):c.1787-2A>G

SNV
Germline

Chr2:112003902

Likely pathogenic

Retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004795310

NM_006343.3(MERTK):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr2:111947465

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005119443

NM_006343.3(MERTK):c.1702G>T (p.Gly568Ter)

SNV
Germline

Chr2:112003103

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005141071

NM_006343.3(MERTK):c.2510G>A (p.Trp837Ter)

SNV
Germline

Chr2:112028374

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005150851

NM_006343.3(MERTK):c.841A>G (p.Lys281Glu)

SNV
Germline

Chr2:111965274

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

1 SubmittersRCV006262316

NM_006343.3(MERTK):c.1867+1G>A

SNV
Germline

Chr2:112003985

Likely pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

1 SubmittersRCV006605100

NM_006343.3(MERTK):c.1333C>T (p.Arg445Ter)

SNV
Germline

Chr2:111994287

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006626907

NM_006343.3(MERTK):c.390G>A (p.Trp130Ter)

SNV
Germline

Chr2:111929448

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

1 SubmittersRCV006704187

NM_006343.3(MERTK):c.961-2A>G

SNV
Germline

Chr2:111975287

Pathogenic

Retinitis pigmentosa 38

Criteria Provided
Single Submitter

1 SubmittersRCV006704368