Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	SNV Germline	Chr1:94051698	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Peripheral neuropathy Abnormal macular morphology Retinal dystrophy Inborn genetic diseases Retinitis pigmentosa Stargardt disease Cone-rod dystrophy Age related macular degeneration 2 Age-related macular degeneration Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa 19 ABCA4-related disorder Stargardt disease 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA119128	rs_76157638	36 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787487 RCV000787486 RCV000787768 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239 RCV005025029 RCV005357096
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	SNV Germline	Chr1:94047046	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy not specified Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227031	rs_58331765	14 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV002247267 RCV001807722 RCV005025030 RCV004732538
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	SNV Germline	Chr1:94005509	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA119129	rs_61751408	17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV001074885 RCV000826132 RCV002247268
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)	SNV Germline	Chr1:94055133	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	No Assertion Criteria Provided	CA227013	rs_61749438	2 SubmittersRCV000008334 RCV000085489
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	SNV Germline	Chr1:94001992	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive not specified Stargardt Disease, Recessive Macular degeneration Cone dystrophy ABCA4-related disorder Retinitis pigmentosa Retinal dystrophy Stargardt disease Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA220688	rs_41292677	20 SubmittersRCV000008335 RCV000078671 RCV000285333 RCV000393715 RCV000259072 RCV000340261 RCV000393726 RCV000504806 RCV000778139 RCV000787769 RCV001075661 RCV002470704 RCV004783720
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	SNV Germline	Chr1:94043420	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227082	rs_61750061	5 SubmittersRCV000008337 RCV000085548 RCV003398468 RCV004795382
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	SNV Germline	Chr1:94008251	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Condition: not provided ABCA4-related disorder Macular dystrophy Retinal dystrophy Age related macular degeneration 2 Inborn genetic diseases Stargardt disease Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 not specified Retinitis pigmentosa ABCA4-related retinopathy See cases Cone dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Syndromic retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA119132	rs_1800553	56 SubmittersRCV000008340 RCV000008341 RCV000008339 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319 RCV005417422 RCV005031424 RCV005417423
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	SNV Germline	Chr1:94007731	Conflicting classifications of pathogenicity	Stargardt disease Condition: not provided not specified Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Vitreoretinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA119133	rs_28938473	13 SubmittersRCV000008346 RCV000085773 RCV000259062 RCV000408598 RCV000778995 RCV000787515 RCV001073250
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	SNV Germline	Chr1:94043413	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Macular dystrophy Stargardt disease Retinitis pigmentosa ABCA4-related disorder not specified Age related macular degeneration 2 Optic atrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA119135	rs_61751374	32 SubmittersRCV000008350 RCV000008348 RCV000085549 RCV000505109 RCV000763046 RCV000787495 RCV000787493 RCV000787494 RCV000778259 RCV001000014 RCV001196125 RCV004814860 RCV005357097
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)	SNV Germline	Chr1:94080559	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	No Assertion Criteria Provided	CA226860	rs_61748548	2 SubmittersRCV000008353 RCV000085368
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	SNV Germline	Chr1:94098928	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Stargardt disease Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA203216	rs_61750200	21 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV000763050 RCV001074780 RCV004558240
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	SNV Germline	Chr1:94120994	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA227296	rs_121909205	11 SubmittersRCV000008356 RCV000085719 RCV001075717 RCV004558241
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	SNV Germline	Chr1:94063157	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA226918	rs_61748559	9 SubmittersRCV000008357 RCV000085416 RCV001074326 RCV005031425
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	SNV Germline	Chr1:94063250	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Stargardt disease Macular dystrophy not specified Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA226911	rs_61751392	26 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787481 RCV000787482 RCV001002385 RCV001196126 RCV004528784
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	SNV Germline	Chr1:94031110	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Condition: not provided Mandibulofacial dysostosis with mental deficiency Stargardt disease Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA129033	rs_61750130	24 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV000778258 RCV001075868 RCV004786246
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	SNV Germline	Chr1:94005500	Pathogenic/Likely pathogenic	Retinal dystrophy, early-onset severe Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Stargardt disease Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)	SNV Germline	Chr1:94015766	Pathogenic	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA119142	rs_121909206	1 SubmittersRCV000008367 RCV000008368
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	SNV Germline	Chr1:94008767	Pathogenic/Likely pathogenic	Stargardt disease Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119145	rs_61753033	5 SubmittersRCV000008370 RCV000008372 RCV000008371 RCV000085762
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	SNV Germline	Chr1:94014665	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided not specified Optic atrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA340713	rs_121909207	10 SubmittersRCV000008373 RCV001073346 RCV000994036 RCV003317029 RCV004814862 RCV005025031
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	SNV Germline	Chr1:94047009	Conflicting classifications of pathogenicity	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Severe early-childhood-onset retinal dystrophy Condition: not provided not specified Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive Stargardt disease ABCA4-related disorder Retinal dystrophy Stargardt disease 3 ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA119146	rs_1801581	18 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000294335 RCV000399411 RCV001002837 RCV001101950 RCV003887858 RCV004558243 RCV005364873
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	SNV Germline	Chr11:66526181	Pathogenic/Likely pathogenic	Bardet-Biedl syndrome 1 Condition: not provided Bardet-Biedl syndrome Retinal dystrophy Retinitis pigmentosa Usher syndrome See cases BBS1-related disorder Inborn genetic diseases Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA223760	rs_113624356	54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)	SNV Germline	Chr1:94055237	Pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA341277042	rs_61749433	1 SubmittersRCV000023140
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	SNV Germline	Chr1:94041367	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227113	rs_61751399	7 SubmittersRCV000023141 RCV000085574 RCV000504768 RCV001073572
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	SNV Germline	Chr1:94042767	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220683	rs_61750120	20 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308 RCV005338078
NM_000350.3(ABCA4):c.5461-10T>C	SNV Germline	Chr1:94011395	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Benign concentric annular macular dystrophy Macular dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Stargardt disease not specified Retinitis pigmentosa 19 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220687	rs_1800728	33 SubmittersRCV000008366 RCV000078669 RCV000177965 RCV000210327 RCV000210325 RCV000504857 RCV000678511 RCV000763440 RCV000787510 RCV000787771 RCV001000430 RCV001542559 RCV005625270 RCV004732655 RCV004975272
NM_000350.3(ABCA4):c.67-2A>G	SNV Germline	Chr1:94113068	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal atrophy Macular degeneration Central scotoma Visual impairment Condition: not provided Retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA345425	rs_398123339	8 SubmittersRCV000078672 RCV000415227 RCV000723703 RCV001074239 RCV005025131
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	SNV Germline	Chr1:94079421	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA226872	rs_61748549	13 SubmittersRCV000085376 RCV000764205 RCV000986372 RCV001096640 RCV001073759 RCV001257823 RCV005357535
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	SNV Germline	Chr1:94079339	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA179692	rs_61748550	11 SubmittersRCV000085378 RCV000152707 RCV001074409 RCV002513925 RCV003398695 RCV004558301
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)	SNV Germline	Chr1:94113011	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226874	rs_61751410	5 SubmittersRCV000085379 RCV000408553 RCV004815077
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)	SNV Germline	Chr1:94078611	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA226886	rs_61748552	6 SubmittersRCV000085388 RCV000210294 RCV000504649 RCV005406817
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	SNV Germline	Chr1:94077833	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Retinal dystrophy Stargardt disease ABCA4-related disorder Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA226892	rs_1800548	13 SubmittersRCV000085395 RCV000622340 RCV001074274 RCV001002844 RCV001102041 RCV001808322 RCV003128228 RCV003317086
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	SNV Germline	Chr1:94063263	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Macular dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226904	rs_61748556	7 SubmittersRCV000085405 RCV000408566 RCV000505043 RCV001074843
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	SNV Germline	Chr1:94111579	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226908	rs_150774447	10 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079 RCV005031583
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)	SNV Unknown	Chr1:94111579	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA226909	rs_150774447	2 SubmittersRCV000085409 RCV000132585
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	SNV Germline	Chr1:94063224	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226915	rs_61748558	12 SubmittersRCV000085413 RCV000778263 RCV000782281 RCV000763048 RCV000761253 RCV001074836 RCV004558302
NM_000350.3(ABCA4):c.1760+2T>G	SNV Germline	Chr1:94063110	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA226922	rs_61751385	6 SubmittersRCV000085420 RCV000132587 RCV003888471 RCV005031584 RCV005252751
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)	SNV Germline	Chr1:94062725	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA226926	rs_61751393	2 SubmittersRCV000085424 RCV000408487 RCV004815080
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	SNV Germline	Chr1:94111561	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226931	rs_55732384	8 SubmittersRCV000085427 RCV000408452 RCV000763051 RCV001073359 RCV004558304
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	SNV Germline	Chr1:94062710	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226932	rs_61749409	23 SubmittersRCV000085428 RCV000504951 RCV000408597 RCV000850520 RCV001353025 RCV002250560 RCV001723664 RCV001849310 RCV002498452 RCV003324506 RCV004558305
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	SNV Germline	Chr1:94062695	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226936	rs_61749412	9 SubmittersRCV000085431 RCV000408475 RCV000787762 RCV001075859
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	SNV Germline	Chr1:94062611	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226949	rs_61749414	6 SubmittersRCV000085440 RCV000408491 RCV004815083 RCV005055575
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	SNV Germline	Chr1:94062587	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA201008	rs_61749417	9 SubmittersRCV000085445 RCV000174470 RCV000318324 RCV000260757 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	SNV Germline	Chr1:94062586	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Cone-rod dystrophy 3 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA226958	rs_61754024	13 SubmittersRCV000085446 RCV000408583 RCV001074170 RCV001098278 RCV004720237 RCV005364979
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)	SNV Germline	Chr1:94062581	Pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226960	rs_61749418	6 SubmittersRCV000085447 RCV001074983 RCV004689454 RCV005025146
NM_000350.3(ABCA4):c.1937+1G>A	SNV Germline	Chr1:94062576	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease 3 See cases Cone dystrophy and rod monochromatism Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226961	rs_61752401	12 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV005417459 RCV004815084
NM_000350.3(ABCA4):c.1938-1G>A	SNV Germline	Chr1:94060760	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Condition: not provided Macular dystrophy	Criteria Provided Single Submitter	CA226963	rs_61751263	4 SubmittersRCV000008351 RCV000008352 RCV000085450 RCV000504968
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	SNV Germline	Chr1:94111546	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226964	rs_62654395	7 SubmittersRCV000085451 RCV000132588 RCV001074366 RCV002490741
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr1:94060740	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226965	rs_61749420	13 SubmittersRCV000085452 RCV000408546 RCV000763047 RCV001074668 RCV004732662
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	SNV Germline	Chr1:94121045	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Abnormality of the eye Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226968	rs_201738997	6 SubmittersRCV000085454 RCV000408483 RCV001814056 RCV004815085
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)	SNV Germline	Chr1:94111537	Pathogenic/Likely pathogenic	Condition: not provided Abnormal macular morphology Peripheral neuropathy Abnormal retinal morphology Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226972	rs_62654397	9 SubmittersRCV000085457 RCV000414796 RCV000626666 RCV001074514 RCV001198384 RCV004529883 RCV004586547 RCV004796008
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr1:94060656	Pathogenic/Likely pathogenic	Condition: not provided Benign concentric annular macular dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226973	rs_61749423	17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)	SNV Germline	Chr1:94111526	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease not specified Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226983	rs_61751412	10 SubmittersRCV000085464 RCV000787776 RCV001000882 RCV001353042 RCV002466250 RCV004794358
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)	SNV Germline	Chr1:94111517	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226985	rs_61748526	4 SubmittersRCV000085466 RCV000504688 RCV004782054
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)	SNV Germline	Chr1:94056692	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226986	rs_61749428	7 SubmittersRCV000085467 RCV000408455 RCV001074411
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)	SNV Germline	Chr1:94056683	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226990	rs_61751395	9 SubmittersRCV000085471 RCV000408526 RCV001074642 RCV004732664 RCV005406818
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)	SNV Germline	Chr1:94055237	Pathogenic	Condition: not provided Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227001	rs_61749433	7 SubmittersRCV000085480 RCV001075705 RCV004732665 RCV004586548 RCV005025148
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	SNV Germline	Chr1:94055152	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Optic atrophy	Criteria Provided Conflicting Classifications	CA227008	rs_61749435	9 SubmittersRCV000085485 RCV000986366 RCV001074506 RCV004815087
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	SNV Germline	Chr1:94055138	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227010	rs_61749437	7 SubmittersRCV000085487 RCV000504877 RCV001075467 RCV005025149
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)	SNV Germline	Chr1:94055134	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227011	rs_61752406	6 SubmittersRCV000085488 RCV000408572 RCV001073601
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)	SNV Germline	Chr1:94111454	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227041	rs_61748529	4 SubmittersRCV000085514 RCV005400423
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	SNV Germline	Chr1:94111454	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227042	rs_61748529	11 SubmittersRCV000085515 RCV000986376 RCV005025150 RCV004815092
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)	SNV Germline	Chr1:94046925	Pathogenic/Likely pathogenic	Condition: not provided not specified Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227050	rs_61749450	5 SubmittersRCV000085522 RCV000999861 RCV002225080 RCV005031585
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	SNV Germline	Chr1:94046922	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227051	rs_61749451	7 SubmittersRCV000085523 RCV000504717 RCV000505078 RCV002498454 RCV004732666
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	SNV Germline	Chr1:94044697	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227059	rs_61749454	10 SubmittersRCV000085529 RCV000504904 RCV001074424 RCV004732667 RCV005025151
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	SNV Germline	Chr1:94044692	Conflicting classifications of pathogenicity	Condition: not provided Macular dystrophy Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Optic atrophy	Criteria Provided Conflicting Classifications	CA227061	rs_61749455	13 SubmittersRCV000085531 RCV000505091 RCV001073380 RCV002247488 RCV004529886 RCV003989317 RCV005025152 RCV004699118 RCV004815096
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)	SNV Germline	Chr1:94044622	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227072	rs_61749456	4 SubmittersRCV000085540 RCV004558308
NM_000350.3(ABCA4):c.3050+5G>A	SNV Germline	Chr1:94044608	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227073	rs_61751262	6 SubmittersRCV000085541 RCV001002836 RCV001073618 RCV005025153
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)	SNV Germline	Chr1:94043471	Pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227075	rs_61749457	3 SubmittersRCV000085543 RCV004796009
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	SNV Germline	Chr1:94043462	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227078	rs_61749459	9 SubmittersRCV000085545 RCV000408496 RCV003324507 RCV004800282 RCV004529887 RCV004815097
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)	SNV Germline	Chr1:94043441	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227079	rs_61751397	4 SubmittersRCV000085546 RCV000408564 RCV004815098
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)	SNV Germline	Chr1:94043377	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227083	rs_61750062	4 SubmittersRCV000085550 RCV005025154 RCV004815099
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)	SNV Germline	Chr1:94042877	Pathogenic	Condition: not provided ABCA4-related disorder Cone-rod dystrophy Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227093	rs_61750065	8 SubmittersRCV000085559 RCV002255094 RCV003324508 RCV004689455 RCV004815102 RCV005025155
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	SNV Germline	Chr1:94042830	Pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Abnormality of the eye Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227097	rs_61751398	13 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001808323 RCV001814057 RCV002498455 RCV002466427 RCV004732669
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)	SNV Germline	Chr1:94042828	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227098	rs_61752416	6 SubmittersRCV000085563 RCV000408551 RCV001075184
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)	SNV Germline	Chr1:94042817	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227099	rs_61752417	4 SubmittersRCV000085564 RCV000408464 RCV001198727 RCV004815104
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	SNV Germline	Chr1:94121014	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227106	rs_62645946	10 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV002247489 RCV001723665 RCV002051808 RCV003324509 RCV003324510 RCV005025156
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)	SNV Germline	Chr1:94042766	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227109	rs_61750121	7 SubmittersRCV000085570 RCV001073697 RCV004700403 RCV003992183
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)	SNV Germline	Chr1:94042766	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227110	rs_61750121	4 SubmittersRCV000085571 RCV000408460 RCV004815105
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	SNV Germline	Chr1:94041345	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227116	rs_1801269	12 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211 RCV004732670 RCV005252752
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	SNV Germline	Chr1:94037200	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder not specified	Criteria Provided Conflicting Classifications	CA227135	rs_61752424	10 SubmittersRCV000085592 RCV000408481 RCV001075720 RCV001101851 RCV003317087
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)	SNV Germline	Chr1:94037150	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227137	rs_61752425	3 SubmittersRCV000085593 RCV000408535 RCV004815107
NM_000350.3(ABCA4):c.3862+1G>A	SNV Germline	Chr1:94036739	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227142	rs_61751400	5 SubmittersRCV000085596 RCV000986360
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	SNV Germline	Chr1:94032008	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227145	rs_61752427	9 SubmittersRCV000085598 RCV001073602 RCV001727570
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)	SNV Germline	Chr1:94031054	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227162	rs_62642573	7 SubmittersRCV000085609 RCV000132591 RCV003888473
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	SNV Germline	Chr1:94031027	Pathogenic/Likely pathogenic; other	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227166	rs_61750135	10 SubmittersRCV000085613 RCV000210333 RCV000408501
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	SNV Germline	Chr1:94031015	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA227169	rs_61750137	13 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV002490742 RCV003155072
NM_000350.3(ABCA4):c.4253+43G>A	SNV Germline	Chr1:94030953	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA227172	rs_61754045	10 SubmittersRCV000085618 RCV001290208 RCV001199365 RCV004529888 RCV004815111 RCV005357536
NM_000350.3(ABCA4):c.4253+4C>T	SNV Germline	Chr1:94030992	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227173	rs_61754044	10 SubmittersRCV000085619 RCV000624755 RCV001075880 RCV004562247 RCV005252753 RCV005417461
NM_000350.3(ABCA4):c.4253+5G>T	SNV Germline	Chr1:94030991	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227174	rs_61750138	7 SubmittersRCV000085620 RCV000504676 RCV001073983 RCV004529889 RCV005031586
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)	SNV Germline	Chr1:94030461	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA227184	rs_61750141	3 SubmittersRCV000085630 RCV000504867
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	SNV Germline	Chr1:94030452	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227185	rs_61750142	14 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511 RCV005025157
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	SNV Germline	Chr1:94029548	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227190	rs_61752434	7 SubmittersRCV000085635 RCV001808324 RCV005055576
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	SNV Germline	Chr1:94029527	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Age related macular degeneration 2 Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227192	rs_61750145	14 SubmittersRCV000085636 RCV000408536 RCV001002829 RCV001198562 RCV001074852 RCV002498456 RCV004732671
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	SNV Germline	Chr1:94029522	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder Cone-rod dystrophy 3 Cone-rod dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227193	rs_61750146	15 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV005234981 RCV005417462 RCV005417463
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)	SNV Germline	Chr1:94029521	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227194	rs_61750147	4 SubmittersRCV000085638 RCV000408580 RCV004815113
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)	SNV Germline	Chr1:94029521	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227195	rs_61750147	5 SubmittersRCV000085639 RCV002225081 RCV005025158
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	SNV Germline	Chr1:94029515	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Macular dystrophy ABCA4-related disorder Retinitis pigmentosa 19 See cases Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227198	rs_61751402	21 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000787763 RCV000779003 RCV001542643 RCV004584347 RCV005025159
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)	SNV Germline	Chr1:94029446	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA227206	rs_281865402	7 SubmittersRCV000085646 RCV000505160 RCV001376334
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	SNV Germline	Chr1:94103131	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227213	rs_62646861	9 SubmittersRCV000085653 RCV000408527 RCV001075709 RCV002272126
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	SNV Germline	Chr1:94103130	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy not specified Stargardt disease ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227215	rs_62646862	13 SubmittersRCV000085654 RCV000408574 RCV000402682 RCV000844929 RCV001100156 RCV004815114
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	SNV Germline	Chr1:94025011	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Inborn genetic diseases Stargardt disease Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227218	rs_61750152	16 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561 RCV005025160
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	SNV Germline	Chr1:94024994	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy maculopathy Retinal dystrophy Retinitis pigmentosa 19 Age-related macular degeneration Cone-rod dystrophy 3 Retinitis pigmentosa ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227219	rs_62642574	13 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890 RCV005025161
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)	SNV Germline	Chr1:94121001	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227220	rs_62645957	5 SubmittersRCV000085658 RCV000408591 RCV001075348
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)	SNV Germline	Chr1:94024978	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy not specified Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227222	rs_62642575	9 SubmittersRCV000085659 RCV000408504 RCV001002608 RCV004815115 RCV005025162
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	SNV Germline	Chr1:94103119	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Abnormal retinal morphology Inborn genetic diseases Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227225	rs_62646863	17 SubmittersRCV000085663 RCV000504910 RCV000626667 RCV000622993 RCV000764207 RCV001100155 RCV004815116
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	SNV Germline	Chr1:94021934	Conflicting classifications of pathogenicity	Condition: not provided Cone-Rod Dystrophy, Recessive ABCA4-related disorder Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt disease Cone-rod dystrophy Cone-rod dystrophy 3 Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA227226	rs_1762111	19 SubmittersRCV000085664 RCV000335992 RCV000314956 RCV000407014 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)	SNV Germline	Chr1:94021871	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227233	rs_61750153	3 SubmittersRCV000085669 RCV001376269
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	SNV Germline	Chr1:94021695	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 19 Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227239	rs_61750155	20 SubmittersRCV000085674 RCV000408465 RCV001002825 RCV001074177 RCV001257846 RCV001808326 RCV003387758 RCV005025163 RCV005417464 RCV004732673
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)	SNV Germline	Chr1:94103104	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA227240	rs_62645943	3 SubmittersRCV000085675 RCV004815117 RCV004595918
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	SNV Germline	Chr1:94021340	Pathogenic/Likely pathogenic; other	Condition: not provided Retinal dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227253	rs_61751404	21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	SNV Germline	Chr1:94021339	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227254	rs_61751403	17 SubmittersRCV000085684 RCV000321118 RCV000504816 RCV000787505 RCV003223338 RCV005031587
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	SNV Germline	Chr1:94021332	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227255	rs_61753017	10 SubmittersRCV000085685 RCV000787506 RCV000986355 RCV001075879 RCV005025164
NM_000350.3(ABCA4):c.5018+2T>C	SNV Germline	Chr1:94021238	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227264	rs_61750562	9 SubmittersRCV000085691 RCV000408523 RCV001074630
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	SNV Germline	Chr1:94019722	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA227268	rs_61753019	9 SubmittersRCV000085694 RCV001073381 RCV000986353 RCV001099771 RCV005025165
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)	SNV Germline	Chr1:94019713	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227270	rs_61753020	3 SubmittersRCV000085695 RCV000408570 RCV004815119
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	SNV Germline	Chr1:94019701	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227271	rs_61750563	10 SubmittersRCV000085696 RCV001073371 RCV002255285 RCV002470765 RCV004528785
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)	SNV Germline	Chr1:94019691	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227272	rs_61750564	5 SubmittersRCV000085697 RCV000408469 RCV002490743 RCV004815120
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)	SNV Germline	Chr1:94019664	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA227275	rs_61753021	2 SubmittersRCV000085699 RCV000408542 RCV004815121
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	SNV Germline	Chr1:94103071	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227276	rs_61748532	13 SubmittersRCV000085700 RCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV005364981 RCV005031588
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)	SNV Germline	Chr1:94019592	Pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227279	rs_61750567	5 SubmittersRCV000085703 RCV001074107 RCV004689457 RCV005031589
NM_000350.3(ABCA4):c.5196+1G>A	SNV Germline	Chr1:94019581	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy maculopathy Retinal dystrophy Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227280	rs_61751377	11 SubmittersRCV000085704 RCV000408528 RCV001002818 RCV001074902 RCV001197154
NM_000350.3(ABCA4):c.5196+2T>C	SNV Germline	Chr1:94019580	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227284	rs_61751405	4 SubmittersRCV000085708 RCV000408592 RCV001073647
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	SNV Germline	Chr1:94014687	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227298	rs_61750571	8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001352958 RCV001723668 RCV004529892
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	SNV Germline	Chr1:94014622	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227304	rs_61751406	11 SubmittersRCV000085725 RCV000504739 RCV000677343 RCV004767070
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	SNV Germline	Chr1:94014590	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227306	rs_61753029	10 SubmittersRCV000085727 RCV001074166 RCV001199290 RCV001352967 RCV004767071
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	SNV Germline	Chr1:94011334	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227313	rs_62642562	7 SubmittersRCV000085734 RCV000408577 RCV004798774
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)	SNV Germline	Chr1:94011319	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227316	rs_62642576	7 SubmittersRCV000085736 RCV004815124 RCV004562248 RCV005406820
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)	SNV Germline	Chr1:94011309	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 3 Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227317	rs_61750575	5 SubmittersRCV000085737 RCV003152681 RCV004689603 RCV005025166
NM_000350.3(ABCA4):c.5584+6T>C	SNV Germline	Chr1:94011256	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227320	rs_61750633	6 SubmittersRCV000085739 RCV000678512 RCV000787512 RCV004815125
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	SNV Germline	Chr1:94010911	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Stargardt disease Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa Retinal dystrophy ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA202869	rs_1801466	19 SubmittersRCV000085744 RCV000178424 RCV000293913 RCV000309306 RCV000391356 RCV000348932 RCV000721173 RCV001097975 RCV001002812 RCV001197336 RCV001262623 RCV001723669 RCV004815126 RCV005357537
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	SNV Germline	Chr1:94010821	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Inborn genetic diseases Stargardt disease Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA227333	rs_1800552	19 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV001075015 RCV000778998 RCV000787764 RCV001196150 RCV002470766
NM_000350.3(ABCA4):c.571-2A>G	SNV Germline	Chr1:94098993	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	No Assertion Criteria Provided	CA227337	rs_61748534	2 SubmittersRCV000008354 RCV000085756
NM_000350.3(ABCA4):c.5714+5G>A	SNV Germline	Chr1:94010795	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Cone-rod dystrophy Stargardt disease ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Optic atrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227338	rs_61751407	33 SubmittersRCV000085757 RCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV000778997 RCV001074898 RCV001196124 RCV002498458 RCV004815127 RCV005357538
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)	SNV Germline	Chr1:94008825	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227341	rs_61753032	4 SubmittersRCV000085760 RCV005234983
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	SNV Germline	Chr1:94008290	Conflicting classifications of pathogenicity	Condition: not provided not specified Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive ABCA4-related disorder Age related macular degeneration 2 Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA285822	rs_56142141	9 SubmittersRCV000085768 RCV000211880 RCV000284620 RCV000339604 RCV000375640 RCV000379050 RCV001096228 RCV001195781 RCV003888479 RCV004562249
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	SNV Germline	Chr1:94007710	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227357	rs_61750639	11 SubmittersRCV000085778 RCV001002809 RCV001075771 RCV005055577 RCV005234984
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)	SNV Germline	Chr1:94007703	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227358	rs_61753037	3 SubmittersRCV000085779 RCV000408461 RCV004815129
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	SNV Germline	Chr1:94005499	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Vitreoretinopathy Macular dystrophy Progressive cone dystrophy (without rod involvement) Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227366	rs_61750641	18 SubmittersRCV000085787 RCV000178545 RCV000763436 RCV000787516 RCV000787517 RCV000787766 RCV001074874 RCV001197157 RCV004529893
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	SNV Germline	Chr1:94005476	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227368	rs_61750643	6 SubmittersRCV000085789 RCV000408458 RCV001073850
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	SNV Germline	Chr1:94005470	Pathogenic	Condition: not provided Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227369	rs_61753038	10 SubmittersRCV000085790 RCV000787772 RCV000763435 RCV001073783 RCV002283455 RCV004732675
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	SNV Germline	Chr1:94001961	Pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227373	rs_61753039	3 SubmittersRCV000085792 RCV002490744
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	SNV Germline	Chr1:94098944	Conflicting classifications of pathogenicity	Condition: not provided not specified Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA227374	rs_61748536	10 SubmittersRCV000085793 RCV000391995 RCV000986375 RCV001074695 RCV001098370 RCV005357539
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	SNV Germline	Chr1:94001911	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227380	rs_61750645	14 SubmittersRCV000085797 RCV000504630 RCV000787519 RCV001004998 RCV001770079 RCV005357540
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	SNV Germline	Chr1:94001072	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease ABCA4-related retinopathy Age related macular degeneration 2 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227388	rs_61750648	12 SubmittersRCV000085806 RCV000408484 RCV001075529 RCV004017397 RCV005357541 RCV004783742 RCV005417958
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	SNV Germline	Chr1:94001068	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Macular dystrophy Retinal dystrophy ABCA4-related disorder Stargardt disease Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Optic atrophy Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA227389	rs_62642564	22 SubmittersRCV000085807 RCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV005025167 RCV004815130 RCV005252116
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	SNV Germline	Chr1:94001059	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227392	rs_62642565	5 SubmittersRCV000085809 RCV000504640 RCV004815131
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)	SNV Germline	Chr1:94001049	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA227394	rs_61750649	2 SubmittersRCV000085810 RCV004562250
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	SNV Germline	Chr1:94001046	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227396	rs_61748520	9 SubmittersRCV000085811 RCV000318700 RCV001073884 RCV002490746 RCV004529894
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)	SNV Germline	Chr1:94001005	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA227399	rs_61750651	3 SubmittersRCV000085815 RCV004562251
NM_000350.3(ABCA4):c.6386+2C>G	SNV Germline	Chr1:94001000	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227400	rs_61753043	8 SubmittersRCV000085816 RCV000408502 RCV003225930 RCV004815132
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	SNV Germline	Chr1:94000924	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227401	rs_61750652	5 SubmittersRCV000085817 RCV001074273 RCV004526616 RCV005031590
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)	SNV Germline	Chr1:94000900	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227402	rs_61750653	6 SubmittersRCV000085818 RCV004815133 RCV004732676 RCV005222752 RCV005237531
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	SNV Germline	Chr1:94000870	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Macular degeneration Blindness Visual loss Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227404	rs_61750654	13 SubmittersRCV000085820 RCV000132593 RCV000505094 RCV000414922 RCV004720238 RCV004724804
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	SNV Germline	Chr1:94000866	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227408	rs_61751384	10 SubmittersRCV000085823 RCV000408531 RCV001074378
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	SNV Germline	Chr1:93998027	Pathogenic	Condition: not provided Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227415	rs_61750658	4 SubmittersRCV000085829 RCV001002806 RCV005025168
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	SNV Germline	Chr1:94098904	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227420	rs_61748538	8 SubmittersRCV000085832 RCV000504919 RCV002470767 RCV002498460
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	SNV Germline	Chr1:93997981	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227422	rs_61753045	4 SubmittersRCV000085834 RCV000408488 RCV003888484
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	SNV Germline	Chr1:93997932	Pathogenic/Likely pathogenic	Condition: not provided Cone dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227425	rs_61753046	14 SubmittersRCV000085837 RCV000504742 RCV000408450 RCV001352970 RCV004529895 RCV004794359
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	SNV Germline	Chr1:93997904	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227432	rs_61750659	5 SubmittersRCV000085842 RCV001075761 RCV004562252 RCV005417959
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	SNV Germline	Chr1:93997869	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA227439	rs_61748521	7 SubmittersRCV000085848 RCV001075235 RCV003324515 RCV004786366
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)	SNV Germline	Chr1:94113063	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227447	rs_62645942	3 SubmittersRCV000085858 RCV005031591
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)	SNV Germline	Chr1:94113062	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA227449	rs_62645958	11 SubmittersRCV000085859 RCV000779009 RCV001074842 RCV005234985 RCV004796010 RCV005252754
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	SNV Germline	Chr1:94098794	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Macular dystrophy Retinitis pigmentosa Retinal dystrophy Cone-rod dystrophy 3 Stargardt disease ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227458	rs_62645944	18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV003993802 RCV004529896
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	SNV Germline	Chr1:94080651	Pathogenic/Likely pathogenic	Condition: not provided Macular dystrophy Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227468	rs_61748545	6 SubmittersRCV000085874 RCV000504769 RCV001075838 RCV005025170
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	SNV Germline	Chr1:94080595	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227475	rs_61751418	4 SubmittersRCV000085878 RCV000986374 RCV001074202
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)	SNV Germline	Chr1:94080594	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227477	rs_61751419	3 SubmittersRCV000085879 RCV004796011
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)	SNV Germline	Chr1:94078652	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA232811	rs_201117452	5 SubmittersRCV000132584 RCV000490464
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)	SNV Unknown	Chr1:94047039	Pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA345716	rs_527236129	1 SubmittersRCV000132589
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	SNV Germline	Chr1:94005469	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA232815	rs_148460146	13 SubmittersRCV000132592 RCV000986347 RCV001073482 RCV001542554 RCV004732701 RCV004796034
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)	SNV Germline	Chr1:94098799	Conflicting classifications of pathogenicity	Cone-rod dystrophy 3 Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA170081	rs_62645952	4 SubmittersRCV000132594 RCV003888541 RCV001857474 RCV004796035
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	SNV Germline	Chr8:86632864	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Achromatopsia not specified Abnormality of the eye Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA232853	rs_147876778	16 SubmittersRCV000132679 RCV000174144 RCV000597492 RCV000435881 RCV000501136 RCV000678546 RCV001164460 RCV004815202
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	SNV Germline	Chr1:94021848	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Cone dystrophy Retinal dystrophy Optic atrophy ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA233403	rs_113106943	11 SubmittersRCV000285181 RCV000416254 RCV000408525 RCV000323858 RCV000376503 RCV000381856 RCV000504993 RCV001073617 RCV004815221 RCV005359324
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)	SNV Germline	Chr1:94080548	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder not specified	Criteria Provided Conflicting Classifications	CA233405	rs_145483148	9 SubmittersRCV000152711 RCV000408602 RCV001073800 RCV001096643 RCV001699130
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)	SNV Germline	Chr8:86575819	Conflicting classifications of pathogenicity	not specified Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Achromatopsia	Criteria Provided Conflicting Classifications	CA233766	rs_186448979	5 SubmittersRCV000245417 RCV000885622 RCV001160702 RCV001160703 RCV001276120
NM_019098.5(CNGB3):c.644-1G>C	SNV Germline	Chr8:86667134	Pathogenic	Achromatopsia 3 Condition: not provided Achromatopsia Achromatopsia 3 Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy CNGB3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273948	rs_201794629	11 SubmittersRCV000169108 RCV000814009 RCV001002980 RCV001535671 RCV004732735
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	SNV Germline	Chr1:94011297	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA244968	rs_377311148	3 SubmittersRCV000296428 RCV000790718 RCV004816288
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)	SNV Germline	Chr1:94080697	Pathogenic	Condition: not provided Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA203573	rs_794727903	4 SubmittersRCV000180146 RCV005025288 RCV005252791
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	SNV Germline	Chr1:94060733	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA347415	rs_200692438	9 SubmittersRCV000194199 RCV000408459 RCV001071977 RCV001075570 RCV002485297
NM_000350.3(ABCA4):c.4539+2028C>T	SNV Germline	Chr1:94027417	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10576057	rs_869320785	9 SubmittersRCV000408506 RCV001380975 RCV001074348 RCV004529387
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)	SNV Germline	Chr1:93997877	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602404	rs_886044764	1 SubmittersRCV000408503 RCV004816436
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	SNV Germline	Chr1:93997943	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602405	rs_886044763	3 SubmittersRCV000408559 RCV001378637 RCV004783767 RCV004816435
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)	SNV Germline	Chr1:93998075	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10602406	rs_886044762	2 SubmittersRCV000408595 RCV004816434 RCV001854788
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)	SNV Germline	Chr1:94001062	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602407	rs_886044761	2 SubmittersRCV000408599 RCV001055307 RCV004816433
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	SNV Germline	Chr1:94005511	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602410	rs_886044758	4 SubmittersRCV000408446 RCV000763439 RCV000480932 RCV004816431
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	SNV Germline	Chr1:94007697	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602412	rs_752147871	3 SubmittersRCV000408493 RCV001197194 RCV004816429
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)	SNV Germline	Chr1:94007730	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602413	rs_886044756	1 SubmittersRCV000408495 RCV004816428
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)	SNV Germline	Chr1:94008252	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957094	rs_142253670	4 SubmittersRCV000408510 RCV000778996 RCV001229952 RCV004816427
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)	SNV Germline	Chr1:94010858	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602415	rs_886044754	1 SubmittersRCV000408529 RCV004816424
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)	SNV Germline	Chr1:94011288	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602416	rs_886044753	1 SubmittersRCV000408565 RCV004816422
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)	SNV Germline	Chr1:94011333	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602417	rs_886044752	3 SubmittersRCV000408470 RCV001854787 RCV004816421
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)	SNV Germline	Chr1:94011334	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602418	rs_62642562	2 SubmittersRCV000408514 RCV004816420 RCV003556287
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)	SNV Germline	Chr1:94011368	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Inborn genetic diseases Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957241	rs_762632312	3 SubmittersRCV000408453 RCV004629171 RCV001854786 RCV004816419
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	SNV Germline	Chr1:94014685	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA957302	rs_760549861	16 SubmittersRCV000408555 RCV000441041 RCV000826133 RCV001074401 RCV002485455 RCV005252827 RCV004732802
NM_000350.3(ABCA4):c.5312+1G>A	SNV Germline	Chr1:94015738	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Age related macular degeneration 2 Cone-rod dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA10602420	rs_886044750	6 SubmittersRCV000408509 RCV001073541 RCV001383600 RCV001196916 RCV002267732 RCV005418025
NM_000350.3(ABCA4):c.5196+1056A>G	SNV Germline	Chr1:94018526	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA10602421	rs_886044749	8 SubmittersRCV000408562 RCV001074079 RCV001091511 RCV002247669
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	SNV Germline	Chr1:94019589	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602423	rs_886044747	3 SubmittersRCV000408479 RCV001002819 RCV001075418
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)	SNV Germline	Chr1:94019641	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa ABCA4-related retinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957371	rs_374343397	4 SubmittersRCV000408584 RCV001854785 RCV005238751 RCV005361363 RCV004816417
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	SNV Germline	Chr1:94021279	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Stargardt disease Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602425	rs_886044746	4 SubmittersRCV000408473 RCV001002822 RCV005090154 RCV004816416
NM_000350.3(ABCA4):c.4773+3A>G	SNV Germline	Chr1:94021843	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA957487	rs_759672616	11 SubmittersRCV000408554 RCV000425309 RCV000787761 RCV005025377
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	SNV Germline	Chr1:94021880	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Stargardt disease	Criteria Provided Conflicting Classifications	CA957495	rs_777415466	8 SubmittersRCV000408448 RCV000761665 RCV004816415 RCV005418024
NM_000350.3(ABCA4):c.4540-2036C>A	SNV Germline	Chr1:94027084	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA10602428	rs_886044743	2 SubmittersRCV000408541 RCV000607126
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	SNV Germline	Chr1:94029465	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Stargardt disease Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA957590	rs_568792949	10 SubmittersRCV000408586 RCV001074181 RCV001380976 RCV003401161 RCV005031808 RCV004732801
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)	SNV Germline	Chr1:94029630	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602429	rs_886044742	2 SubmittersRCV000408486 RCV002519761 RCV004816412
NM_000350.3(ABCA4):c.4352+1G>A	SNV Germline	Chr1:94030427	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957648	rs_200967229	6 SubmittersRCV000408571 RCV001854784 RCV005418023 RCV003888652
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)	SNV Germline	Chr1:94030433	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602430	rs_886044741	1 SubmittersRCV000408520 RCV004816411
NM_000350.3(ABCA4):c.4254-1G>C	SNV Germline	Chr1:94030527	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602431	rs_886044740	2 SubmittersRCV000408511 RCV001543439 RCV004816410
NM_000350.3(ABCA4):c.4253+5G>A	SNV Germline	Chr1:94030991	Pathogenic/Likely pathogenic	Stargardt disease Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10602432	rs_61750138	8 SubmittersRCV000515660 RCV000504972 RCV000408462 RCV001854783 RCV004526649 RCV005025376
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	SNV Germline	Chr1:94031054	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957690	rs_62642573	2 SubmittersRCV000408552 RCV000778257 RCV004816409
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)	SNV Germline	Chr1:94031109	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957700	rs_139109485	2 SubmittersRCV000408505 RCV001240711 RCV004816408
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	SNV Germline	Chr1:94032035	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957778	rs_746541266	5 SubmittersRCV000408545 RCV001092801 RCV001198725 RCV004816406
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)	SNV Germline	Chr1:94036787	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602434	rs_886044738	1 SubmittersRCV000408497 RCV004816405
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	SNV Germline	Chr1:94041249	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Autosomal recessive retinitis pigmentosa Stargardt disease Retinal dystrophy Cone-rod dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA957928	rs_768278935	7 SubmittersRCV000408467 RCV000761669 RCV001257844 RCV003330593 RCV004816402 RCV002267731 RCV005025375
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	SNV Germline	Chr1:94042797	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2 Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA957993	rs_756840095	8 SubmittersRCV000408518 RCV000478178 RCV001196593 RCV001074682 RCV004796121
NM_000350.3(ABCA4):c.2919-10T>C	SNV Germline	Chr1:94044754	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10602441	rs_886044733	3 SubmittersRCV000408547 RCV001099947 RCV003556286 RCV004816398
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	SNV Germline	Chr1:94046943	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa Cone-rod dystrophy Macular dystrophy Stargardt disease Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA958124	rs_201471607	13 SubmittersRCV000408500 RCV000413621 RCV000787770 RCV000787491 RCV000787492 RCV000787490 RCV001074886 RCV004796120 RCV004558582 RCV005252130
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)	SNV Germline	Chr1:94046962	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Condition: not provided Severe early-childhood-onset retinal dystrophy Macular degeneration Stargardt Disease, Recessive Retinal dystrophy Optic atrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease	Criteria Provided Conflicting Classifications	CA958130	rs_368846708	6 SubmittersRCV000278622 RCV000323631 RCV000425865 RCV000408538 RCV000338922 RCV000373695 RCV004816396 RCV004816397 RCV005025374 RCV005418022
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)	SNV Germline	Chr1:94048919	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602442	rs_61749441	1 SubmittersRCV000408471 RCV004816395
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)	SNV Germline	Chr1:94051677	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy ABCA4-related disorder Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA958220	rs_746566873	6 SubmittersRCV000408530 RCV000490201 RCV001074708 RCV004532828 RCV005406968
NM_000350.3(ABCA4):c.2160+1G>T	SNV Germline	Chr1:94060536	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10602443	rs_61749427	4 SubmittersRCV000408563 RCV001075206 RCV001854780 RCV001352989
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)	SNV Germline	Chr1:94062596	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602444	rs_766570903	1 SubmittersRCV000408560 RCV004816394
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)	SNV Germline	Chr1:94062623	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602445	rs_886044730	2 SubmittersRCV000408594 RCV004816393 RCV005090153
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)	SNV Germline	Chr1:94062692	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided ABCA4-related disorder Retinitis pigmentosa Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA958417	rs_61752398	10 SubmittersRCV000408543 RCV001074552 RCV001090315 RCV004732800 RCV004782319 RCV001723810
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)	SNV Germline	Chr1:94063153	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Single Submitter	CA10602447	rs_886044728	2 SubmittersRCV000408573 RCV000787483 RCV004816391
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	SNV Germline	Chr1:94063180	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA958456	rs_143263315	6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001100049 RCV001441278 RCV003258709 RCV004816390
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	SNV Germline	Chr1:94063258	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Condition: not provided ABCA4-related disorder Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA958466	rs_201602424	6 SubmittersRCV000408457 RCV000312006 RCV000298675 RCV000337235 RCV000391529 RCV001522285 RCV001100053 RCV003888651 RCV004020725
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)	SNV Germline	Chr1:94063288	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602448	rs_886044727	2 SubmittersRCV000408522 RCV004816389 RCV005090152
NM_000350.3(ABCA4):c.1357-2A>G	SNV Germline	Chr1:94077889	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602449	rs_886044726	3 SubmittersRCV000408557 RCV004816388 RCV005090151
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	SNV Germline	Chr1:94078653	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602450	rs_886044725	5 SubmittersRCV000408492 RCV001091615 RCV001198958 RCV004816387
NM_000350.3(ABCA4):c.1239+1G>C	SNV Germline	Chr1:94079321	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA958598	rs_765707028	5 SubmittersRCV000408454 RCV001091616 RCV004816386 RCV005237763
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	SNV Germline	Chr1:94080491	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10602451	rs_61752390	6 SubmittersRCV000414174 RCV000408494 RCV001074163 RCV005025373
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)	SNV Germline	Chr1:94111534	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602454	rs_886044722	1 SubmittersRCV000408521 RCV004816383
NM_000350.3(ABCA4):c.160+2T>C	SNV Germline	Chr1:94112971	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602456	rs_886044721	1 SubmittersRCV000408498 RCV004816381
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)	SNV Germline	Chr1:94112973	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602457	rs_886044720	3 SubmittersRCV000408466 RCV002485454 RCV004816380
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)	SNV Germline	Chr1:94113047	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602458	rs_886044719	1 SubmittersRCV000408508 RCV004816379
NM_000350.3(ABCA4):c.67-1G>C	SNV Germline	Chr1:94113067	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602459	rs_778908435	3 SubmittersRCV000408582 RCV001091620 RCV004816378
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	SNV Germline	Chr1:94062608	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10588302	rs_145961131	7 SubmittersRCV000256006 RCV000504776 RCV001075471 RCV005025404 RCV002518745
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	SNV Germline	Chr1:94083372	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958711	rs_138682163	4 SubmittersRCV000255612 RCV000764206 RCV004542963
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)	SNV Germline	Chr1:94098907	Pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10588304	rs_757557272	4 SubmittersRCV000255556 RCV001075801 RCV005025403
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	SNV Germline	Chr1:94014670	Likely pathogenic	Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA10588919	rs_748706582	3 SubmittersRCV000256375 RCV001859496 RCV004563295
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)	SNV Germline	Chr1:94005475	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA957026	rs_767729255	4 SubmittersRCV000291561 RCV002250614 RCV005031851
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	SNV Germline	Chr1:94077712	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Retinal dystrophy ABCA4-related disorder Macular degeneration Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA958501	rs_140482171	11 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV001073584 RCV001102037 RCV000385092 RCV000505101 RCV000512657 RCV000844930
NM_019098.5(CNGB3):c.1833C>T (p.His611=)	SNV Germline	Chr8:86579201	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia Achromatopsia 3	Criteria Provided Conflicting Classifications	CA4799884	rs_368787128	4 SubmittersRCV000259449 RCV001164346 RCV001272479 RCV001164345
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)	SNV Germline	Chr1:94078603	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Stargardt disease Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA958570	rs_777078540	6 SubmittersRCV000388365 RCV004816512 RCV004586668 RCV005025431
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	SNV Germline	Chr1:94060674	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA958364	rs_575453437	8 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV005025432 RCV004558613
NM_019098.5(CNGB3):c.912C>T (p.Val304=)	SNV Germline	Chr8:86647879	Conflicting classifications of pathogenicity	Achromatopsia 3 not specified Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia	Criteria Provided Conflicting Classifications	CA4800221	rs_117806701	4 SubmittersRCV001159528 RCV000401931 RCV000892241 RCV001159529 RCV001828257
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	SNV Germline	Chr1:94043470	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA958052	rs_201855602	11 SubmittersRCV001074386 RCV004558614 RCV000412846 RCV001002835 RCV005025438 RCV005252863
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)	SNV Germline	Chr8:86626051	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia Severe early-childhood-onset retinal dystrophy Achromatopsia 3	Criteria Provided Conflicting Classifications	CA4799993	rs_140286824	5 SubmittersRCV000308981 RCV001276130 RCV001160802 RCV001160803
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)	SNV Germline	Chr1:94041346	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957945	rs_779426136	4 SubmittersRCV004816524 RCV000413704 RCV005235252
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)	SNV Germline	Chr1:94078627	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Retinal dystrophy Condition: not provided ABCA4-related disorder Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA958572	rs_770439859	5 SubmittersRCV000330893 RCV000295678 RCV000343633 RCV004816525 RCV000523526 RCV001102042 RCV000387710 RCV005429014
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)	SNV Germline	Chr1:94077722	Conflicting classifications of pathogenicity	Macular degeneration Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis Pigmentosa, Recessive Retinal dystrophy Retinitis pigmentosa Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA958507	rs_138157885	7 SubmittersRCV000286324 RCV001303441 RCV001590914 RCV000378419 RCV001073691 RCV003323503 RCV005252868
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)	SNV Germline	Chr8:86575926	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA4799753	rs_78239264	4 SubmittersRCV000261883 RCV000356702 RCV001034257 RCV004816625
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)	SNV Germline	Chr8:86626030	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Achromatopsia	Criteria Provided Conflicting Classifications	CA4799987	rs_150642676	3 SubmittersRCV000301489 RCV000356262 RCV000931567 RCV001276129
NM_019098.5(CNGB3):c.*125G>C	SNV Germline	Chr8:86575679	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA10628358	rs_186370374	2 SubmittersRCV000310278 RCV000398127
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)	SNV Germline	Chr8:86626027	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided not specified Achromatopsia	Criteria Provided Conflicting Classifications	CA4799986	rs_146062161	8 SubmittersRCV000336568 RCV000394987 RCV000487572 RCV001700999 RCV001833481
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)	SNV Germline	Chr8:86667039	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4800287	rs_781628736	2 SubmittersRCV000345096 RCV000390143 RCV001489377
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)	SNV Germline	Chr8:86575986	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4799764	rs_3735971	2 SubmittersRCV000277134 RCV000332145 RCV001239882
NM_019098.5(CNGB3):c.624C>T (p.Asn208=)	SNV Germline	Chr8:86668038	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4800336	rs_144347980	2 SubmittersRCV000267952 RCV000361581 RCV000927857
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)	SNV Germline	Chr8:86575814	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Achromatopsia 3 not specified Condition: not provided Achromatopsia Retinal dystrophy	Criteria Provided Conflicting Classifications	CA4799726	rs_142846289	9 SubmittersRCV000297206 RCV000399992 RCV000608300 RCV000762525 RCV001833480 RCV004816624
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)	SNV Germline	Chr8:86579219	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Achromatopsia	Criteria Provided Conflicting Classifications	CA4799887	rs_143131185	3 SubmittersRCV000328479 RCV000383096 RCV000980205 RCV001828363
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)	SNV Germline	Chr8:86647878	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Achromatopsia Retinal dystrophy	Criteria Provided Conflicting Classifications	CA4800220	rs_144637286	5 SubmittersRCV000322833 RCV000372778 RCV000762528 RCV001272747 RCV004816626
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)	SNV Germline	Chr8:86743585	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Achromatopsia	Criteria Provided Conflicting Classifications	CA4800544	rs_150260103	3 SubmittersRCV000277976 RCV000325972 RCV000900243 RCV001272756
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)	SNV Germline	Chr1:94060709	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA16042332	rs_865990202	7 SubmittersRCV000414150 RCV001353030 RCV004816637 RCV005027469
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)	SNV Germline	Chr1:94108649	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA958855	rs_138359497	4 SubmittersRCV000416105 RCV000764208
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)	SNV Germline	Chr1:94001071	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA16044110	rs_1057520213	6 SubmittersRCV000432926 RCV001074499 RCV004586705 RCV005027484
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	SNV Germline	Chr1:94029621	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA957621	rs_758835368	7 SubmittersRCV000443223 RCV000505057 RCV001075739 RCV000779004 RCV005027483
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)	SNV Germline	Chr1:94011274	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957222	rs_371489809	6 SubmittersRCV000421632 RCV002289547 RCV003224874 RCV002480281 RCV004816654
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	SNV Germline	Chr1:94077713	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA958502	rs_752786160	12 SubmittersRCV000429156 RCV000779006 RCV001074731 RCV002250625 RCV002272229 RCV005235274 RCV005355712 RCV004819223
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	SNV Germline	Chr1:94007707	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16617200	rs_1064793014	5 SubmittersRCV000486602 RCV000504970 RCV002248696 RCV002250633
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)	SNV Germline	Chr4:127920826	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Inborn genetic diseases Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA3077232	rs_559155109	13 SubmittersRCV000480079 RCV000505174 RCV000505013 RCV000504782 RCV000805545 RCV001542748 RCV002313243 RCV001805096 RCV005027540 RCV005418155
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)	SNV Germline	Chr8:86626069	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia CNGB3-related disorder	Criteria Provided Conflicting Classifications	CA4799998	rs_115246141	5 SubmittersRCV000480707 RCV000764781 RCV001276131 RCV004535518
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)	SNV Germline	Chr1:94046962	Conflicting classifications of pathogenicity	Condition: not provided ABCA4-related disorder Isolated macular dystrophy Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA958129	rs_368846708	6 SubmittersRCV000488184 RCV001099950 RCV001199608 RCV005418162 RCV005248064
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	SNV Germline	Chr1:94021385	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341283189	rs_1085307968	5 SubmittersRCV000489654 RCV001353028 RCV005027567 RCV005252923
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro)	SNV Germline	Chr1:94005490	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341278997	rs_1553186896	3 SubmittersRCV000504985 RCV004817733
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)	SNV Unknown	Chr1:94011330	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA341281100	rs_1297857869	1 SubmittersRCV000505135
NM_000350.3(ABCA4):c.5196+1137G>A	SNV Germline	Chr1:94018445	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Macular dystrophy Stargardt disease Retinitis pigmentosa 19 Condition: not provided Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA26843511	rs_778234759	13 SubmittersRCV000504847 RCV000504651 RCV000787507 RCV000787508 RCV001542560 RCV001388591 RCV003324531
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg)	SNV Unknown	Chr1:94019690	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA341282739	rs_1435203678	1 SubmittersRCV000504832
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)	SNV Germline	Chr1:94021892	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Single Submitter	CA341283909	rs_1553188682	2 SubmittersRCV000504799 RCV002524408
NM_000350.3(ABCA4):c.4129-1G>A	SNV Unknown	Chr1:94031121	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA341286539	rs_1553189507	1 SubmittersRCV000504663
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)	SNV Germline	Chr1:94042830	Pathogenic	Congenital stationary night blindness Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341292154	rs_61751398	2 SubmittersRCV000505122 RCV005407661
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)	SNV Germline	Chr1:94043445	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341292652	rs_1553190664	3 SubmittersRCV000504918 RCV003558422 RCV004794397
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	SNV Germline	Chr1:94047024	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA958148	rs_149071415	6 SubmittersRCV000504891 RCV001047033 RCV005034047 RCV005356025
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)	SNV Germline	Chr1:94108700	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA958864	rs_765429911	6 SubmittersRCV000578767 RCV001075053 RCV001376340 RCV005027679
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	SNV Germline	Chr1:94037350	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 2 ABCA4-related disorder Cone-rod dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy not specified Stargardt disease ABCA4-related retinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957869	rs_146786552	15 SubmittersRCV000597651 RCV001195780 RCV001101855 RCV002267738 RCV002289889 RCV002497243 RCV003235303 RCV004594081 RCV005367445 RCV004817792
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)	SNV Germline	Chr1:94056638	Pathogenic	Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA26844053	rs_911580078	3 SubmittersRCV000594953 RCV005027700
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)	SNV Germline	Chr1:94030438	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA957650	rs_142506651	3 SubmittersRCV000594447 RCV005357785
NM_000350.3(ABCA4):c.5196+1136C>A	SNV Germline	Chr1:94018446	Conflicting classifications of pathogenicity	not specified Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA26843516	rs_114147805	3 SubmittersRCV000601786 RCV000986351 RCV001075845
NM_000350.3(ABCA4):c.4539+2064C>T	SNV Germline	Chr1:94027381	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA658795482	rs_1553189179	7 SubmittersRCV000994041 RCV001352957 RCV004817819
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	SNV Germline	Chr1:94025021	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341284696	rs_1553188916	5 SubmittersRCV000625606 RCV001860463 RCV002289913 RCV004798849
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	SNV Germline	Chr1:94029567	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA957608	rs_142732109	5 SubmittersRCV000658513 RCV002249386 RCV002507145
NM_000350.3(ABCA4):c.4539+2001G>A	SNV Germline	Chr1:94027444	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA524383873	rs_1457937638	7 SubmittersRCV000678510 RCV001074340 RCV001701152
NM_000350.3(ABCA4):c.2587+2T>C	SNV Germline	Chr1:94055109	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341276768	rs_1557783989	4 SubmittersRCV000722087 RCV001868917 RCV005027888
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)	SNV Germline	Chr8:86579136	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Retinal dystrophy CNGB3-related retinopathy	Criteria Provided Conflicting Classifications	CA4799871	rs_139337746	5 SubmittersRCV000727616 RCV001164344 RCV001164343 RCV004817954 RCV005357967
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)	SNV Germline	Chr1:94063158	Pathogenic	Condition: not provided maculopathy Retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341280062	rs_1557787756	6 SubmittersRCV000760305 RCV001002843 RCV004798864 RCV005029408
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)	SNV Germline	Chr1:94031836	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA341286986	rs_552517556	4 SubmittersRCV000761667 RCV004564474 RCV004800573
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	SNV Germline	Chr1:94019665	Conflicting classifications of pathogenicity	ABCA4-related disorder Retinal dystrophy Cone-rod dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 1 Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA957376	rs_771038310	8 SubmittersRCV000779001 RCV001074860 RCV001199620 RCV000994038 RCV002267624 RCV003322616 RCV004760780
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)	SNV Germline	Chr1:94055297	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA26843455	rs_374410829	5 SubmittersRCV001073511 RCV001353035 RCV001683659
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)	SNV Germline	Chr1:94019606	Pathogenic/Likely pathogenic	ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Condition: not provided Cone dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341282557	rs_1557767754	4 SubmittersRCV000785053 RCV001353013 RCV001204682 RCV005418344
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	SNV Germline	Chr1:94060739	Likely pathogenic	Cone-rod dystrophy 3 Stargardt disease Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341278906	rs_141823837	5 SubmittersRCV000786893 RCV001002840 RCV003768465 RCV005029445 RCV004817995
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	SNV Germline	Chr1:94001919	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy Condition: not provided Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA956985	rs_367839100	6 SubmittersRCV000850519 RCV001074418 RCV001234782 RCV001262439 RCV004733063
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)	SNV Germline	Chr8:86726550	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia CNGB3-related disorder	Criteria Provided Conflicting Classifications	CA4800444	rs_146688972	6 SubmittersRCV000905932 RCV001161028 RCV001161029 RCV001272753 RCV004733088
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)	SNV Germline	Chr8:86629031	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia Achromatopsia 3 not specified	Criteria Provided Conflicting Classifications	CA4800041	rs_141934736	5 SubmittersRCV000926379 RCV001162416 RCV001272740 RCV001162415 RCV005436345
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)	SNV Germline	Chr8:86576075	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia CNGB3-related disorder	Criteria Provided Conflicting Classifications	CA4799784	rs_112573107	4 SubmittersRCV000933583 RCV001162312 RCV001162313 RCV001276124 RCV004733090
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)	SNV Germline	Chr8:86629052	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Achromatopsia	Criteria Provided Conflicting Classifications	CA4800046	rs_768959472	3 SubmittersRCV000941867 RCV001162417 RCV001162418 RCV001272741
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)	SNV Germline	Chr8:86667057	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia	Criteria Provided Conflicting Classifications	CA4800292	rs_770816095	3 SubmittersRCV000941658 RCV001162523 RCV001162524 RCV001279841
NM_019098.5(CNGB3):c.1178+9T>C	SNV Germline	Chr8:86643742	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Achromatopsia Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA4800139	rs_549858104	3 SubmittersRCV000970399 RCV001164461 RCV001272742 RCV001164462
NM_000350.3(ABCA4):c.5714+1G>T	SNV Germline	Chr1:94010799	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341280686	rs_1232476760	3 SubmittersRCV000986349 RCV001071878
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)	SNV Germline	Chr1:94037229	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341289195	rs_1570367230	2 SubmittersRCV000986361 RCV001244393
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)	SNV Germline	Chr1:94037260	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA341289365	rs_1366653130	2 SubmittersRCV000986362 RCV001858639
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)	SNV Germline	Chr1:94041346	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA341291096	rs_779426136	2 SubmittersRCV000986364 RCV004818091
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)	SNV Unknown	Chr1:94055161	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341276870	rs_779466403	1 SubmittersRCV000986367
NM_000350.3(ABCA4):c.2161-1G>A	SNV Unknown	Chr1:94056823	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341278183	rs_1401924846	1 SubmittersRCV000986368
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	SNV Germline	Chr1:94062668	Pathogenic/Likely pathogenic	Stargardt disease Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341279484	rs_1557787473	4 SubmittersRCV001002841 RCV000986370 RCV001858641
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)	SNV Germline	Chr1:94077880	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341282199	rs_1366296798	2 SubmittersRCV000986371 RCV001869332
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)	SNV Germline	Chr1:94121010	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA26845230	rs_761209432	2 SubmittersRCV000986377 RCV005092967
NM_019098.5(CNGB3):c.1781+1G>T	SNV Germline	Chr8:86604092	Pathogenic	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA371448976	rs_1375507464	1 SubmittersRCV000999643
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	SNV Germline	Chr1:94021404	Conflicting classifications of pathogenicity	Stargardt disease Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA957438	rs_61752439	5 SubmittersRCV001002824 RCV001074894 RCV001216794 RCV004563619
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)	SNV Germline	Chr1:94014674	Conflicting classifications of pathogenicity	Isolated macular dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided ABCA4-related retinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957299	rs_375184282	6 SubmittersRCV001199622 RCV001352943 RCV001450679 RCV005359739 RCV004818161
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)	SNV Germline	Chr1:94005475	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA341278940	rs_767729255	1 SubmittersRCV001029767
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)	SNV Germline	Chr1:94010872	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 3 Retinal dystrophy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA957186	rs_369973540	5 SubmittersRCV001058803 RCV002471022 RCV004813655 RCV005029638
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)	SNV Germline	Chr1:94014620	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA341281392	rs_1188515677	3 SubmittersRCV001040976 RCV002479263 RCV001270350
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)	SNV Germline	Chr1:94044716	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341275224	rs_1368508052	5 SubmittersRCV001040117 RCV001352962 RCV004813571
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met)	SNV Germline	Chr1:94044733	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy ABCA4-related retinopathy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA958090	rs_148015012	5 SubmittersRCV001063061 RCV004813673 RCV005359834 RCV005029647
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)	SNV Germline	Chr1:94051660	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341276127	rs_1660843703	7 SubmittersRCV001068714 RCV001073797 RCV004594246
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)	SNV Germline	Chr1:94077748	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA341281909	rs_1661575232	4 SubmittersRCV001052785 RCV001075839 RCV005036344
NM_000350.3(ABCA4):c.1342A>G (p.Met448Val)	SNV Germline	Chr1:94078604	Conflicting classifications of pathogenicity	Condition: not provided not specified Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA341282274	rs_1169850759	3 SubmittersRCV001063057 RCV004702620 RCV005036365
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter)	SNV Germline	Chr1:94113040	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA341286738	rs_1191816747	5 SubmittersRCV001074538 RCV001067891 RCV005232105 RCV005236580
NM_000350.3(ABCA4):c.859-9T>C	SNV Germline	Chr1:94080727	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA958689	rs_529598960	8 SubmittersRCV001065436 RCV001074005 RCV004536128 RCV005235516 RCV005036373
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	SNV Germline	Chr1:93997872	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA956820	rs_779585931	5 SubmittersRCV001073878 RCV001371824 RCV004564573 RCV005029676
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)	SNV Germline	Chr1:94001949	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA341278309	rs_1362964563	5 SubmittersRCV001073480 RCV004587039 RCV003558652 RCV005029675
NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)	SNV Germline	Chr1:94005494	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA26835427	rs_183398940	3 SubmittersRCV001074505 RCV001366334 RCV004570317
NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)	SNV Germline	Chr1:94007688	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA341279552	rs_1259778135	3 SubmittersRCV001074320 RCV001209734 RCV004570316
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)	SNV Germline	Chr1:94019719	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA957380	rs_201996979	4 SubmittersRCV001073357 RCV001247223 RCV005029673
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	SNV Germline	Chr1:94021846	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957488	rs_751844313	5 SubmittersRCV001075350 RCV001340257 RCV004017784 RCV004564577
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)	SNV Germline	Chr1:94023386	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided ABCA4-related disorder Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA341284162	rs_1385119665	5 SubmittersRCV001075014 RCV001220523 RCV004733152 RCV004564576
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)	SNV Germline	Chr1:94041345	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA341291094	rs_1801269	4 SubmittersRCV001073590 RCV003405293 RCV005036386
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)	SNV Germline	Chr1:94060702	Pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA958369	rs_757302286	5 SubmittersRCV001074567 RCV001376519 RCV001381381 RCV005029680
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)	SNV Germline	Chr1:94063146	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA958448	rs_374224955	3 SubmittersRCV001073439 RCV001862502 RCV005029674
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	SNV Germline	Chr1:94080709	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease 3	Criteria Provided Conflicting Classifications	CA958686	rs_781716640	7 SubmittersRCV001074574 RCV001268174 RCV001729794 RCV004559903
NM_000350.3(ABCA4):c.6817-2A>G	SNV Germline	Chr1:93993244	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341275661	rs_1658918693	3 SubmittersRCV001074566 RCV001862833 RCV003989637
NM_000350.3(ABCA4):c.4849-1G>A	SNV Germline	Chr1:94021410	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA957439	rs_61750156	6 SubmittersRCV001074206 RCV001235111 RCV004564575 RCV005029679 RCV004733150
NM_000350.3(ABCA4):c.3523-2A>G	SNV Germline	Chr1:94040129	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341290274	rs_1168144507	2 SubmittersRCV001075055 RCV005235521
NM_000350.3(ABCA4):c.302+4A>C	SNV Germline	Chr1:94111434	Pathogenic/Likely pathogenic	Retinal dystrophy Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA645372153	rs_1662599697	5 SubmittersRCV001075244 RCV004689988 RCV005029682 RCV005253712 RCV005093414
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)	SNV Germline	Chr8:86578705	Conflicting classifications of pathogenicity	Achromatopsia 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4799813	rs_377730576	4 SubmittersRCV001162314 RCV001247986 RCV001162315 RCV001828576 RCV003353182
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)	SNV Germline	Chr8:86626046	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Condition: not provided Achromatopsia	Criteria Provided Conflicting Classifications	CA4799990	rs_751667290	3 SubmittersRCV001160801 RCV001160800 RCV001240796 RCV001828574
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)	SNV Germline	Chr8:86667056	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4800291	rs_138320784	2 SubmittersRCV001160908 RCV001162522 RCV001474218
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)	SNV Germline	Chr1:94098886	Conflicting classifications of pathogenicity	Age related macular degeneration 2 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA958769	rs_149780335	5 SubmittersRCV001196793 RCV001233979 RCV001352988 RCV005359925
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)	SNV Germline	Chr1:94037146	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341288631	rs_1660360744	2 SubmittersRCV001232792 RCV003313997
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)	SNV Germline	Chr1:94041379	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957956	rs_369440533	4 SubmittersRCV001235193 RCV004557470
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)	SNV Germline	Chr1:94046937	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA341275316	rs_1291080436	4 SubmittersRCV001230252 RCV004587084 RCV005036499
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)	SNV Germline	Chr1:94120985	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA958970	rs_770272033	3 SubmittersRCV001233348 RCV001353021 RCV004813942
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)	SNV Germline	Chr1:94001082	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA956910	rs_568627877	3 SubmittersRCV001240517 RCV004562083 RCV005057139
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)	SNV Germline	Chr1:94010823	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341280743	rs_771092150	3 SubmittersRCV001296443 RCV001352990 RCV005236773
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)	SNV Germline	Chr1:94044647	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA341275089	rs_1660620409	2 SubmittersRCV001294592 RCV001376520
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser)	SNV Germline	Chr1:94080558	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA341284121	rs_1191143782	3 SubmittersRCV001297313 RCV005029864 RCV004690068
NM_000350.3(ABCA4):c.4217A>G (p.His1406Arg)	SNV Germline	Chr1:94031032	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341286159	rs_1660186858	2 SubmittersRCV001324844 RCV005235564
NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)	SNV Germline	Chr1:94014679	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957300	rs_771742619	3 SubmittersRCV001344272 RCV004563030
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)	SNV Germline	Chr1:94042841	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA341292199	rs_1660531924	3 SubmittersRCV001350170 RCV004699327 RCV005023077
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)	SNV Germline	Chr1:93996194	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341275868	rs_1658995249	1 SubmittersRCV001353004
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)	SNV Germline	Chr1:94000887	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341277325	rs_1659153516	1 SubmittersRCV001353009
NM_000350.3(ABCA4):c.6282+1G>C	SNV Germline	Chr1:94001857	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA956976	rs_770453727	2 SubmittersRCV001352994 RCV004815443
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)	SNV Germline	Chr1:94005466	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA341278911	rs_1462350577	3 SubmittersRCV001352992 RCV002548492 RCV004699329
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)	SNV Unknown	Chr1:94007715	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341279654	rs_1659429594	1 SubmittersRCV001353016
NM_000350.3(ABCA4):c.5461-6T>C	SNV Germline	Chr1:94011391	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA1181408092	rs_1659543067	1 SubmittersRCV001352975
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)	SNV Germline	Chr1:94014626	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341281404	rs_1659672463	2 SubmittersRCV001352984 RCV005094466
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)	SNV Germline	Chr1:94015740	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA26842500	rs_374015407	3 SubmittersRCV001366508 RCV001353043 RCV004815444
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	SNV Germline	Chr1:94021280	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA341282967	rs_1211325812	6 SubmittersRCV001353015 RCV001379165 RCV001724300 RCV004733268
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)	SNV Unknown	Chr1:94021300	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341283009	rs_1659888526	1 SubmittersRCV001352944
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)	SNV Germline	Chr1:94029601	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341285265	rs_1347261858	2 SubmittersRCV001352952 RCV001871907
NM_000350.3(ABCA4):c.3523-1G>A	SNV Germline	Chr1:94040128	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA957902	rs_766239144	1 SubmittersRCV001352986
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)	SNV Germline	Chr1:94043347	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA958030	rs_772663974	3 SubmittersRCV001352946 RCV001871906 RCV005408861
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)	SNV Germline	Chr1:94044731	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA26839909	rs_61749452	2 SubmittersRCV001353029 RCV001871909
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)	SNV Unknown	Chr1:94063130	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341279953	rs_1661175744	1 SubmittersRCV001352949
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)	SNV Germline	Chr1:94111556	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA341285594	rs_1355238974	3 SubmittersRCV001352982 RCV003490217 RCV005438072
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)	SNV Germline	Chr1:94108699	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA958863	rs_759799179	2 SubmittersRCV001367497 RCV002488138
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)	SNV Germline	Chr1:94011316	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA341281077	rs_2101008373	3 SubmittersRCV001376249 RCV002272462 RCV002550231
NM_000350.3(ABCA4):c.5461-1G>T	SNV Germline	Chr1:94011386	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341281210	rs_2101008577	3 SubmittersRCV001376209 RCV001379164
NM_000350.3(ABCA4):c.442+2T>A	SNV Germline	Chr1:94108575	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341292944	rs_1662504014	2 SubmittersRCV001376405 RCV002550236
NM_000350.3(ABCA4):c.3522+1G>A	SNV Germline	Chr1:94041208	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA341290380	rs_1265840106	2 SubmittersRCV001378602 RCV005023127
NM_000350.3(ABCA4):c.3328+1G>A	SNV Germline	Chr1:94042760	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341291828	rs_1660527478	2 SubmittersRCV001377471 RCV005235576
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)	SNV Germline	Chr1:94019664	Conflicting classifications of pathogenicity	Condition: not provided ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA957375	rs_61753021	5 SubmittersRCV001384258 RCV004733282 RCV004563873 RCV005361592
NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter)	SNV Germline	Chr1:94029483	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA26853486	rs_888059763	3 SubmittersRCV001385903 RCV004699132
NM_000350.3(ABCA4):c.1761-2A>G	SNV Germline	Chr1:94062755	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA958426	rs_754765164	4 SubmittersRCV001386479 RCV002225134 RCV005038198 RCV005361594
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)	SNV Germline	Chr1:94077853	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341282141	rs_2101101348	2 SubmittersRCV001390541 RCV001587394
NM_002335.4(LRP5):c.2829G>A (p.Pro943=)	SNV Germline	Chr11:68416329	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA6149775	rs_201018263	6 SubmittersRCV001430997 RCV002276734 RCV005626428
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)	SNV Germline	Chr1:94001080	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Stargardt disease Condition: not provided	Criteria Provided Conflicting Classifications	CA341277582	rs_2100994049	3 SubmittersRCV001526707 RCV002469401 RCV002568845
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)	SNV Germline	Chr1:94042802	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957995	rs_763267492	5 SubmittersRCV001543576 RCV003888303 RCV003989695
NM_000350.3(ABCA4):c.758T>A (p.Leu253His)	SNV Germline	Chr1:94098804	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341288786	rs_2101135424	1 SubmittersRCV001591788
NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)	SNV Germline	Chr1:94041382	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341291301	rs_2101048742	1 SubmittersRCV001591820
NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)	SNV Germline	Chr1:94042793	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341292011	rs_776773510	2 SubmittersRCV001591912 RCV003120640
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)	SNV Germline	Chr1:94042826	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341292138	rs_1660531525	2 SubmittersRCV001591918 RCV001882714
NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn)	SNV Germline	Chr1:94046964	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341275370	rs_754082669	1 SubmittersRCV001591926
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)	SNV Germline	Chr1:94011268	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA26838213	rs_200849015	5 SubmittersRCV001682640 RCV004587194 RCV005023215
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)	SNV Germline	Chr1:94001089	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA341277604	rs_2100994077	3 SubmittersRCV001725798 RCV002539754
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)	SNV Germline	Chr1:94001009	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA341277442	rs_2100993895	3 SubmittersRCV001755001 RCV002489788
NM_000350.3(ABCA4):c.4128+1G>A	SNV Germline	Chr1:94031777	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA341286670	rs_2101036750	3 SubmittersRCV001840952 RCV002292669 RCV005419221
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys)	SNV Germline	Chr1:94055149	Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA26843273	rs_143797418	4 SubmittersRCV001894361 RCV004815672 RCV004797959 RCV005409042
NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val)	SNV Germline	Chr1:94044691	Conflicting classifications of pathogenicity	Condition: not provided not specified Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA341275178	rs_1297410481	3 SubmittersRCV001999928 RCV004526889 RCV005025516
NM_000350.3(ABCA4):c.4852T>C (p.Trp1618Arg)	SNV Germline	Chr1:94021406	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341283239	rs_786205446	2 SubmittersRCV002021962 RCV004565159
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	SNV Germline	Chr1:94042785	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa 19 Stargardt disease Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA957987	rs_138641544	5 SubmittersRCV001970179 RCV004816824 RCV005623102 RCV004587272 RCV005025523
NM_000350.3(ABCA4):c.6190G>A (p.Ala2064Thr)	SNV Germline	Chr1:94001950	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA956992	rs_61753040	2 SubmittersRCV001949300 RCV005235620
NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys)	SNV Germline	Chr1:94030453	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957651	rs_533422156	3 SubmittersRCV002014925 RCV005025567 RCV004816862
NM_000350.3(ABCA4):c.4352+61G>A	SNV Germline	Chr1:94030367	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA1139769810	rs_1478038032	2 SubmittersRCV002002915 RCV004565162
NM_000350.3(ABCA4):c.5714+1G>A	SNV Germline	Chr1:94010799	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA341280688	rs_1232476760	2 SubmittersRCV001946958 RCV005032010
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)	SNV Germline	Chr1:94056636	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341277728	rs_2101069632	1 SubmittersRCV002225171
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)	SNV Germline	Chr1:93997892	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341276283	rs_2100987881	1 SubmittersRCV002259425
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)	SNV Germline	Chr1:94060592	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA341278530	rs_2523832449	2 SubmittersRCV002289265 RCV003101666
NM_000350.3(ABCA4):c.5460+2T>C	SNV Germline	Chr1:94014541	Pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA341281218	rs_2523668348	1 SubmittersRCV003164452
NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)	SNV Germline	Chr1:94019665	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341282682	rs_771038310	1 SubmittersRCV002302857
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)	SNV Germline	Chr1:94077736	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341281883	rs_2523890741	1 SubmittersRCV002471461
NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)	SNV Germline	Chr1:94042781	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341291940	rs_2523771313	2 SubmittersRCV002730866 RCV004559966
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)	SNV Germline	Chr1:94000918	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341277387	rs_2523624176	2 SubmittersRCV002862529 RCV004565630
NM_000350.3(ABCA4):c.302+4A>G	SNV Germline	Chr1:94111434	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA2580063336	rs_1662599697	2 SubmittersRCV002979411 RCV004796749
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)	SNV Germline	Chr1:94025030	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341284717	rs_2523707250	2 SubmittersRCV003045921 RCV004565656
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)	SNV Unknown	Chr1:94062694	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341279592	rs_2523841647	1 SubmittersRCV003389584
NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)	SNV Unknown	Chr1:94031057	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341286259	rs_2523729282	1 SubmittersRCV003389596
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)	SNV Germline	Chr1:94055274	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA341277115	rs_1660944269	3 SubmittersRCV003445397 RCV003553940 RCV005036807
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)	SNV Germline	Chr1:94000861	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341277275	rs_1571241947	1 SubmittersRCV003494496
NM_000350.3(ABCA4):c.6479+1G>C	SNV Germline	Chr1:94000835	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341277214	rs_1436211151	2 SubmittersRCV003562249 RCV005235721
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)	SNV Germline	Chr1:94103026	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA958816	rs_772735093	2 SubmittersRCV003562273 RCV005036878
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)	SNV Germline	Chr1:94011360	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA341281159	rs_2523657983	2 SubmittersRCV003665440 RCV004796834
NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)	SNV Germline	Chr1:94005544	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter	CA341279127	rs_1012284944	1 SubmittersRCV003990938
NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)	SNV Germline	Chr1:94014652	Pathogenic	Stargardt disease Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA341281459	rs_746252741	2 SubmittersRCV004526446 RCV005023562
NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)	SNV Germline	Chr1:94079331	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter		rs_2523897592	1 SubmittersRCV004566417
NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)	SNV Germline	Chr1:94014668	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided		rs_2523668882	1 SubmittersRCV004566505
NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)	SNV Germline	Chr1:94000921	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided		rs_2523624191	1 SubmittersRCV004566506
NM_000350.3(ABCA4):c.6220G>T (p.Gly2074Cys)	SNV Germline	Chr1:94001920	Pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided		rs_1659196542	1 SubmittersRCV004574944
NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)	SNV Germline	Chr1:94080560	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004776461 RCV005059570 RCV004814304
NM_000350.3(ABCA4):c.2654-2A>C	SNV Germline	Chr1:94048959	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter		rs_2101059901	1 SubmittersRCV004586407
NM_000350.3(ABCA4):c.4539+1G>C	SNV Germline	Chr1:94029444	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004776478
NM_000350.3(ABCA4):c.1597C>T (p.Gln533Ter)	SNV Germline	Chr1:94063275	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided			1 SubmittersRCV004776487
NM_000350.3(ABCA4):c.5461-6T>G	SNV Germline	Chr1:94011391	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV004796961
NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)	SNV Germline	Chr1:94062679	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV004797355
NM_000350.3(ABCA4):c.4693A>T (p.Lys1565Ter)	SNV Germline	Chr1:94021926	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004819042
NM_000350.3(ABCA4):c.1019A>G (p.Tyr340Cys)	SNV Germline	Chr1:94080558	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004819953
NM_000350.3(ABCA4):c.3169G>T (p.Glu1057Ter)	SNV Germline	Chr1:94043357	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV005031088
NM_000350.3(ABCA4):c.302+2T>G	SNV Germline	Chr1:94111436	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV005031254
NM_000350.3(ABCA4):c.6209C>G (p.Thr2070Arg)	SNV Germline	Chr1:94001931	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005112815 RCV005030957
NM_000350.3(ABCA4):c.6006-1G>A	SNV Germline	Chr1:94005583	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV005030970
NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)	SNV Germline	Chr1:94021387	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV005034891
NM_000350.3(ABCA4):c.1918C>A (p.Pro640Thr)	SNV Germline	Chr1:94062596	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005087561
NM_000350.3(ABCA4):c.1712T>G (p.Ile571Ser)	SNV Germline	Chr1:94063160	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005235887
NM_000350.3(ABCA4):c.3224C>A (p.Ala1075Asp)	SNV Germline	Chr1:94042865	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005235888
NM_000350.3(ABCA4):c.4127A>C (p.Gln1376Pro)	SNV Germline	Chr1:94031779	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005235890
NM_000350.3(ABCA4):c.859-25A>G	SNV Germline	Chr1:94080743	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005252556
NM_000350.3(ABCA4):c.67-2A>T	SNV Germline	Chr1:94113068	Pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter			1 SubmittersRCV005253150

NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)

SNV
Germline

Chr1:94051698

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided
Peripheral neuropathy
Abnormal macular morphology
Retinal dystrophy
Inborn genetic diseases
Retinitis pigmentosa
Stargardt disease
Cone-rod dystrophy
Age related macular degeneration 2
Age-related macular degeneration
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa 19
ABCA4-related disorder
Stargardt disease 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA119128

rs_76157638

36 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787487 RCV000787486 RCV000787768 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239 RCV005025029 RCV005357096

NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)

SNV
Germline

Chr1:94047046

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy
not specified
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227031

rs_58331765

14 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV002247267 RCV001807722 RCV005025030 RCV004732538

NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)

SNV
Germline

Chr1:94005509

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinal dystrophy
Stargardt disease
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA119129

rs_61751408

17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV001074885 RCV000826132 RCV002247268

NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)

SNV
Germline

Chr1:94055133

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

No Assertion Criteria Provided

CA227013

rs_61749438

2 SubmittersRCV000008334 RCV000085489

NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)

SNV
Germline

Chr1:94001992

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
not specified
Stargardt Disease, Recessive
Macular degeneration
Cone dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA220688

rs_41292677

20 SubmittersRCV000008335 RCV000078671 RCV000285333 RCV000393715 RCV000259072 RCV000340261 RCV000393726 RCV000504806 RCV000778139 RCV000787769 RCV001075661 RCV002470704 RCV004783720

NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)

SNV
Germline

Chr1:94043420

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227082

rs_61750061

5 SubmittersRCV000008337 RCV000085548 RCV003398468 RCV004795382

NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)

SNV
Germline

Chr1:94008251

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
Condition: not provided
ABCA4-related disorder
Macular dystrophy
Retinal dystrophy
Age related macular degeneration 2
Inborn genetic diseases
Stargardt disease
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
not specified
Retinitis pigmentosa
ABCA4-related retinopathy
See cases
Cone dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Syndromic retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA119132

rs_1800553

56 SubmittersRCV000008340 RCV000008341 RCV000008339 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319 RCV005417422 RCV005031424 RCV005417423

NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)

SNV
Germline

Chr1:94007731

Conflicting classifications of pathogenicity

Stargardt disease
Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Vitreoretinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA119133

rs_28938473

13 SubmittersRCV000008346 RCV000085773 RCV000259062 RCV000408598 RCV000778995 RCV000787515 RCV001073250

NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)

SNV
Germline

Chr1:94043413

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Macular dystrophy
Stargardt disease
Retinitis pigmentosa
ABCA4-related disorder
not specified
Age related macular degeneration 2
Optic atrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA119135

rs_61751374

32 SubmittersRCV000008350 RCV000008348 RCV000085549 RCV000505109 RCV000763046 RCV000787495 RCV000787493 RCV000787494 RCV000778259 RCV001000014 RCV001196125 RCV004814860 RCV005357097

NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)

SNV
Germline

Chr1:94080559

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

No Assertion Criteria Provided

CA226860

rs_61748548

2 SubmittersRCV000008353 RCV000085368

NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)

SNV
Germline

Chr1:94098928

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA203216

rs_61750200

21 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV000763050 RCV001074780 RCV004558240

NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)

SNV
Germline

Chr1:94120994

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227296

rs_121909205

11 SubmittersRCV000008356 RCV000085719 RCV001075717 RCV004558241

NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)

SNV
Germline

Chr1:94063157

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA226918

rs_61748559

9 SubmittersRCV000008357 RCV000085416 RCV001074326 RCV005031425

NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)

SNV
Germline

Chr1:94063250

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa
Stargardt disease
Macular dystrophy
not specified
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA226911

rs_61751392

26 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787481 RCV000787482 RCV001002385 RCV001196126 RCV004528784

NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)

SNV
Germline

Chr1:94031110

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
Condition: not provided
Mandibulofacial dysostosis with mental deficiency
Stargardt disease
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA129033

rs_61750130

24 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV000778258 RCV001075868 RCV004786246

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

SNV
Germline

Chr1:94005500

Pathogenic/Likely pathogenic

Retinal dystrophy, early-onset severe
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Stargardt disease
Retinitis pigmentosa 19
ABCA4-related retinopathy
Leber congenital amaurosis 14
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093

NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)

SNV
Germline

Chr1:94015766

Pathogenic

Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA119142

rs_121909206

1 SubmittersRCV000008367 RCV000008368

NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)

SNV
Germline

Chr1:94008767

Pathogenic/Likely pathogenic

Stargardt disease
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119145

rs_61753033

5 SubmittersRCV000008370 RCV000008372 RCV000008371 RCV000085762

NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)

SNV
Germline

Chr1:94014665

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
not specified
Optic atrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA340713

rs_121909207

10 SubmittersRCV000008373 RCV001073346 RCV000994036 RCV003317029 RCV004814862 RCV005025031

NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)

SNV
Germline

Chr1:94047009

Conflicting classifications of pathogenicity

MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
Severe early-childhood-onset retinal dystrophy
Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Stargardt disease 3
ABCA4-related retinopathy

Criteria Provided
Conflicting Classifications

CA119146

rs_1801581

18 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000294335 RCV000399411 RCV001002837 RCV001101950 RCV003887858 RCV004558243 RCV005364873

NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)

SNV
Germline

Chr11:66526181

Pathogenic/Likely pathogenic

Bardet-Biedl syndrome 1
Condition: not provided
Bardet-Biedl syndrome
Retinal dystrophy
Retinitis pigmentosa
Usher syndrome
See cases
BBS1-related disorder
Inborn genetic diseases
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA223760

rs_113624356

54 SubmittersRCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV003390672 RCV002513000 RCV005621849

NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)

SNV
Germline

Chr1:94055237

Pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA341277042

rs_61749433

1 SubmittersRCV000023140

NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)

SNV
Germline

Chr1:94041367

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227113

rs_61751399

7 SubmittersRCV000023141 RCV000085574 RCV000504768 RCV001073572

NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)

SNV
Germline

Chr1:94042767

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220683

rs_61750120

20 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308 RCV005338078

NM_000350.3(ABCA4):c.5461-10T>C

SNV
Germline

Chr1:94011395

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Benign concentric annular macular dystrophy
Macular dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Stargardt disease
not specified
Retinitis pigmentosa 19
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA220687

rs_1800728

33 SubmittersRCV000008366 RCV000078669 RCV000177965 RCV000210327 RCV000210325 RCV000504857 RCV000678511 RCV000763440 RCV000787510 RCV000787771 RCV001000430 RCV001542559 RCV005625270 RCV004732655 RCV004975272

NM_000350.3(ABCA4):c.67-2A>G

SNV
Germline

Chr1:94113068

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal atrophy
Macular degeneration
Central scotoma
Visual impairment
Condition: not provided
Retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA345425

rs_398123339

8 SubmittersRCV000078672 RCV000415227 RCV000723703 RCV001074239 RCV005025131

NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)

SNV
Germline

Chr1:94079421

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA226872

rs_61748549

13 SubmittersRCV000085376 RCV000764205 RCV000986372 RCV001096640 RCV001073759 RCV001257823 RCV005357535

NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)

SNV
Germline

Chr1:94079339

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Retinitis pigmentosa
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA179692

rs_61748550

11 SubmittersRCV000085378 RCV000152707 RCV001074409 RCV002513925 RCV003398695 RCV004558301

NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)

SNV
Germline

Chr1:94113011

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226874

rs_61751410

5 SubmittersRCV000085379 RCV000408553 RCV004815077

NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)

SNV
Germline

Chr1:94078611

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA226886

rs_61748552

6 SubmittersRCV000085388 RCV000210294 RCV000504649 RCV005406817

NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)

SNV
Germline

Chr1:94077833

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Stargardt disease
ABCA4-related disorder
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA226892

rs_1800548

13 SubmittersRCV000085395 RCV000622340 RCV001074274 RCV001002844 RCV001102041 RCV001808322 RCV003128228 RCV003317086

NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)

SNV
Germline

Chr1:94063263

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Macular dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226904

rs_61748556

7 SubmittersRCV000085405 RCV000408566 RCV000505043 RCV001074843

NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)

SNV
Germline

Chr1:94111579

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226908

rs_150774447

10 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079 RCV005031583

NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)

SNV
Unknown

Chr1:94111579

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA226909

rs_150774447

2 SubmittersRCV000085409 RCV000132585

NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)

SNV
Germline

Chr1:94063224

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226915

rs_61748558

12 SubmittersRCV000085413 RCV000778263 RCV000782281 RCV000763048 RCV000761253 RCV001074836 RCV004558302

NM_000350.3(ABCA4):c.1760+2T>G

SNV
Germline

Chr1:94063110

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA226922

rs_61751385

6 SubmittersRCV000085420 RCV000132587 RCV003888471 RCV005031584 RCV005252751

NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)

SNV
Germline

Chr1:94062725

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA226926

rs_61751393

2 SubmittersRCV000085424 RCV000408487 RCV004815080

NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)

SNV
Germline

Chr1:94111561

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226931

rs_55732384

8 SubmittersRCV000085427 RCV000408452 RCV000763051 RCV001073359 RCV004558304

NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)

SNV
Germline

Chr1:94062710

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Stargardt disease
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA226932

rs_61749409

23 SubmittersRCV000085428 RCV000504951 RCV000408597 RCV000850520 RCV001353025 RCV002250560 RCV001723664 RCV001849310 RCV002498452 RCV003324506 RCV004558305

NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)

SNV
Germline

Chr1:94062695

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226936

rs_61749412

9 SubmittersRCV000085431 RCV000408475 RCV000787762 RCV001075859

NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr1:94062611

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226949

rs_61749414

6 SubmittersRCV000085440 RCV000408491 RCV004815083 RCV005055575

NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)

SNV
Germline

Chr1:94062587

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA201008

rs_61749417

9 SubmittersRCV000085445 RCV000174470 RCV000318324 RCV000260757 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279

NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)

SNV
Germline

Chr1:94062586

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA226958

rs_61754024

13 SubmittersRCV000085446 RCV000408583 RCV001074170 RCV001098278 RCV004720237 RCV005364979

NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)

SNV
Germline

Chr1:94062581

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226960

rs_61749418

6 SubmittersRCV000085447 RCV001074983 RCV004689454 RCV005025146

NM_000350.3(ABCA4):c.1937+1G>A

SNV
Germline

Chr1:94062576

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease 3
See cases
Cone dystrophy and rod monochromatism
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226961

rs_61752401

12 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV005417459 RCV004815084

NM_000350.3(ABCA4):c.1938-1G>A

SNV
Germline

Chr1:94060760

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Condition: not provided
Macular dystrophy

Criteria Provided
Single Submitter

CA226963

rs_61751263

4 SubmittersRCV000008351 RCV000008352 RCV000085450 RCV000504968

NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)

SNV
Germline

Chr1:94111546

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226964

rs_62654395

7 SubmittersRCV000085451 RCV000132588 RCV001074366 RCV002490741

NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr1:94060740

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226965

rs_61749420

13 SubmittersRCV000085452 RCV000408546 RCV000763047 RCV001074668 RCV004732662

NM_000350.3(ABCA4):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:94121045

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Abnormality of the eye
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226968

rs_201738997

6 SubmittersRCV000085454 RCV000408483 RCV001814056 RCV004815085

NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)

SNV
Germline

Chr1:94111537

Pathogenic/Likely pathogenic

Condition: not provided
Abnormal macular morphology
Peripheral neuropathy
Abnormal retinal morphology
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226972

rs_62654397

9 SubmittersRCV000085457 RCV000414796 RCV000626666 RCV001074514 RCV001198384 RCV004529883 RCV004586547 RCV004796008

NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)

SNV
Germline

Chr1:94060656

Pathogenic/Likely pathogenic

Condition: not provided
Benign concentric annular macular dystrophy
Leber congenital amaurosis
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Stargardt disease 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226973

rs_61749423

17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663

NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)

SNV
Germline

Chr1:94111526

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
not specified
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226983

rs_61751412

10 SubmittersRCV000085464 RCV000787776 RCV001000882 RCV001353042 RCV002466250 RCV004794358

NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)

SNV
Germline

Chr1:94111517

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226985

rs_61748526

4 SubmittersRCV000085466 RCV000504688 RCV004782054

NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)

SNV
Germline

Chr1:94056692

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226986

rs_61749428

7 SubmittersRCV000085467 RCV000408455 RCV001074411

NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)

SNV
Germline

Chr1:94056683

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226990

rs_61751395

9 SubmittersRCV000085471 RCV000408526 RCV001074642 RCV004732664 RCV005406818

NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)

SNV
Germline

Chr1:94055237

Pathogenic

Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227001

rs_61749433

7 SubmittersRCV000085480 RCV001075705 RCV004732665 RCV004586548 RCV005025148

NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)

SNV
Germline

Chr1:94055152

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Optic atrophy

Criteria Provided
Conflicting Classifications

CA227008

rs_61749435

9 SubmittersRCV000085485 RCV000986366 RCV001074506 RCV004815087

NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)

SNV
Germline

Chr1:94055138

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227010

rs_61749437

7 SubmittersRCV000085487 RCV000504877 RCV001075467 RCV005025149

NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)

SNV
Germline

Chr1:94055134

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227011

rs_61752406

6 SubmittersRCV000085488 RCV000408572 RCV001073601

NM_000350.3(ABCA4):c.286A>C (p.Asn96His)

SNV
Germline

Chr1:94111454

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227041

rs_61748529

4 SubmittersRCV000085514 RCV005400423

NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)

SNV
Germline

Chr1:94111454

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227042

rs_61748529

11 SubmittersRCV000085515 RCV000986376 RCV005025150 RCV004815092

NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)

SNV
Germline

Chr1:94046925

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227050

rs_61749450

5 SubmittersRCV000085522 RCV000999861 RCV002225080 RCV005031585

NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)

SNV
Germline

Chr1:94046922

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227051

rs_61749451

7 SubmittersRCV000085523 RCV000504717 RCV000505078 RCV002498454 RCV004732666

NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)

SNV
Germline

Chr1:94044697

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227059

rs_61749454

10 SubmittersRCV000085529 RCV000504904 RCV001074424 RCV004732667 RCV005025151

NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)

SNV
Germline

Chr1:94044692

Conflicting classifications of pathogenicity

Condition: not provided
Macular dystrophy
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Optic atrophy

Criteria Provided
Conflicting Classifications

CA227061

rs_61749455

13 SubmittersRCV000085531 RCV000505091 RCV001073380 RCV002247488 RCV004529886 RCV003989317 RCV005025152 RCV004699118 RCV004815096

NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)

SNV
Germline

Chr1:94044622

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227072

rs_61749456

4 SubmittersRCV000085540 RCV004558308

NM_000350.3(ABCA4):c.3050+5G>A

SNV
Germline

Chr1:94044608

Pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227073

rs_61751262

6 SubmittersRCV000085541 RCV001002836 RCV001073618 RCV005025153

NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)

SNV
Germline

Chr1:94043471

Pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227075

rs_61749457

3 SubmittersRCV000085543 RCV004796009

NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)

SNV
Germline

Chr1:94043462

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227078

rs_61749459

9 SubmittersRCV000085545 RCV000408496 RCV003324507 RCV004800282 RCV004529887 RCV004815097

NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)

SNV
Germline

Chr1:94043441

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227079

rs_61751397

4 SubmittersRCV000085546 RCV000408564 RCV004815098

NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)

SNV
Germline

Chr1:94043377

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227083

rs_61750062

4 SubmittersRCV000085550 RCV005025154 RCV004815099

NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)

SNV
Germline

Chr1:94042877

Pathogenic

Condition: not provided
ABCA4-related disorder
Cone-rod dystrophy
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227093

rs_61750065

8 SubmittersRCV000085559 RCV002255094 RCV003324508 RCV004689455 RCV004815102 RCV005025155

NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)

SNV
Germline

Chr1:94042830

Pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Abnormality of the eye
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227097

rs_61751398

13 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001808323 RCV001814057 RCV002498455 RCV002466427 RCV004732669

NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)

SNV
Germline

Chr1:94042828

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227098

rs_61752416

6 SubmittersRCV000085563 RCV000408551 RCV001075184

NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)

SNV
Germline

Chr1:94042817

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227099

rs_61752417

4 SubmittersRCV000085564 RCV000408464 RCV001198727 RCV004815104

NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)

SNV
Germline

Chr1:94121014

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227106

rs_62645946

10 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV002247489 RCV001723665 RCV002051808 RCV003324509 RCV003324510 RCV005025156

NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)

SNV
Germline

Chr1:94042766

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227109

rs_61750121

7 SubmittersRCV000085570 RCV001073697 RCV004700403 RCV003992183

NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)

SNV
Germline

Chr1:94042766

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227110

rs_61750121

4 SubmittersRCV000085571 RCV000408460 RCV004815105

NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)

SNV
Germline

Chr1:94041345

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227116

rs_1801269

12 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001075726 RCV001199211 RCV004732670 RCV005252752

NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)

SNV
Germline

Chr1:94037200

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA227135

rs_61752424

10 SubmittersRCV000085592 RCV000408481 RCV001075720 RCV001101851 RCV003317087

NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)

SNV
Germline

Chr1:94037150

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227137

rs_61752425

3 SubmittersRCV000085593 RCV000408535 RCV004815107

NM_000350.3(ABCA4):c.3862+1G>A

SNV
Germline

Chr1:94036739

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227142

rs_61751400

5 SubmittersRCV000085596 RCV000986360

NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)

SNV
Germline

Chr1:94032008

Pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227145

rs_61752427

9 SubmittersRCV000085598 RCV001073602 RCV001727570

NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)

SNV
Germline

Chr1:94031054

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227162

rs_62642573

7 SubmittersRCV000085609 RCV000132591 RCV003888473

NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)

SNV
Germline

Chr1:94031027

Pathogenic/Likely pathogenic; other

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227166

rs_61750135

10 SubmittersRCV000085613 RCV000210333 RCV000408501

NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)

SNV
Germline

Chr1:94031015

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA227169

rs_61750137

13 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV002490742 RCV003155072

NM_000350.3(ABCA4):c.4253+43G>A

SNV
Germline

Chr1:94030953

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227172

rs_61754045

10 SubmittersRCV000085618 RCV001290208 RCV001199365 RCV004529888 RCV004815111 RCV005357536

NM_000350.3(ABCA4):c.4253+4C>T

SNV
Germline

Chr1:94030992

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227173

rs_61754044

10 SubmittersRCV000085619 RCV000624755 RCV001075880 RCV004562247 RCV005252753 RCV005417461

NM_000350.3(ABCA4):c.4253+5G>T

SNV
Germline

Chr1:94030991

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227174

rs_61750138

7 SubmittersRCV000085620 RCV000504676 RCV001073983 RCV004529889 RCV005031586

NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)

SNV
Germline

Chr1:94030461

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA227184

rs_61750141

3 SubmittersRCV000085630 RCV000504867

NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)

SNV
Germline

Chr1:94030452

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227185

rs_61750142

14 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511 RCV005025157

NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)

SNV
Germline

Chr1:94029548

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227190

rs_61752434

7 SubmittersRCV000085635 RCV001808324 RCV005055576

NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)

SNV
Germline

Chr1:94029527

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Age related macular degeneration 2
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227192

rs_61750145

14 SubmittersRCV000085636 RCV000408536 RCV001002829 RCV001198562 RCV001074852 RCV002498456 RCV004732671

NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)

SNV
Germline

Chr1:94029522

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Cone-rod dystrophy 3
Cone-rod dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227193

rs_61750146

15 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV005234981 RCV005417462 RCV005417463

NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)

SNV
Germline

Chr1:94029521

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227194

rs_61750147

4 SubmittersRCV000085638 RCV000408580 RCV004815113

NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)

SNV
Germline

Chr1:94029521

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227195

rs_61750147

5 SubmittersRCV000085639 RCV002225081 RCV005025158

NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)

SNV
Germline

Chr1:94029515

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
See cases
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227198

rs_61751402

21 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000787763 RCV000779003 RCV001542643 RCV004584347 RCV005025159

NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)

SNV
Germline

Chr1:94029446

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227206

rs_281865402

7 SubmittersRCV000085646 RCV000505160 RCV001376334

NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)

SNV
Germline

Chr1:94103131

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227213

rs_62646861

9 SubmittersRCV000085653 RCV000408527 RCV001075709 RCV002272126

NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)

SNV
Germline

Chr1:94103130

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
not specified
Stargardt disease
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227215

rs_62646862

13 SubmittersRCV000085654 RCV000408574 RCV000402682 RCV000844929 RCV001100156 RCV004815114

NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)

SNV
Germline

Chr1:94025011

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Inborn genetic diseases
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227218

rs_61750152

16 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561 RCV005025160

NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)

SNV
Germline

Chr1:94024994

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
maculopathy
Retinal dystrophy
Retinitis pigmentosa 19
Age-related macular degeneration
Cone-rod dystrophy 3
Retinitis pigmentosa
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227219

rs_62642574

13 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890 RCV005025161

NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)

SNV
Germline

Chr1:94121001

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227220

rs_62645957

5 SubmittersRCV000085658 RCV000408591 RCV001075348

NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)

SNV
Germline

Chr1:94024978

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
not specified
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227222

rs_62642575

9 SubmittersRCV000085659 RCV000408504 RCV001002608 RCV004815115 RCV005025162

NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)

SNV
Germline

Chr1:94103119

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Abnormal retinal morphology
Inborn genetic diseases
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227225

rs_62646863

17 SubmittersRCV000085663 RCV000504910 RCV000626667 RCV000622993 RCV000764207 RCV001100155 RCV004815116

NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)

SNV
Germline

Chr1:94021934

Conflicting classifications of pathogenicity

Condition: not provided
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy
Cone-rod dystrophy 3
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227226

rs_1762111

19 SubmittersRCV000085664 RCV000335992 RCV000314956 RCV000407014 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209

NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)

SNV
Germline

Chr1:94021871

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227233

rs_61750153

3 SubmittersRCV000085669 RCV001376269

NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)

SNV
Germline

Chr1:94021695

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227239

rs_61750155

20 SubmittersRCV000085674 RCV000408465 RCV001002825 RCV001074177 RCV001257846 RCV001808326 RCV003387758 RCV005025163 RCV005417464 RCV004732673

NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr1:94103104

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227240

rs_62645943

3 SubmittersRCV000085675 RCV004815117 RCV004595918

NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)

SNV
Germline

Chr1:94021340

Pathogenic/Likely pathogenic; other

Condition: not provided
Retinal dystrophy
Leber congenital amaurosis
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674

NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)

SNV
Germline

Chr1:94021339

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227254

rs_61751403

17 SubmittersRCV000085684 RCV000321118 RCV000504816 RCV000787505 RCV003223338 RCV005031587

NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)

SNV
Germline

Chr1:94021332

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227255

rs_61753017

10 SubmittersRCV000085685 RCV000787506 RCV000986355 RCV001075879 RCV005025164

NM_000350.3(ABCA4):c.5018+2T>C

SNV
Germline

Chr1:94021238

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227264

rs_61750562

9 SubmittersRCV000085691 RCV000408523 RCV001074630

NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)

SNV
Germline

Chr1:94019722

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227268

rs_61753019

9 SubmittersRCV000085694 RCV001073381 RCV000986353 RCV001099771 RCV005025165

NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)

SNV
Germline

Chr1:94019713

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227270

rs_61753020

3 SubmittersRCV000085695 RCV000408570 RCV004815119

NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)

SNV
Germline

Chr1:94019701

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Stargardt disease
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227271

rs_61750563

10 SubmittersRCV000085696 RCV001073371 RCV002255285 RCV002470765 RCV004528785

NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)

SNV
Germline

Chr1:94019691

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227272

rs_61750564

5 SubmittersRCV000085697 RCV000408469 RCV002490743 RCV004815120

NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)

SNV
Germline

Chr1:94019664

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA227275

rs_61753021

2 SubmittersRCV000085699 RCV000408542 RCV004815121

NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)

SNV
Germline

Chr1:94103071

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA227276

rs_61748532

13 SubmittersRCV000085700 RCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV005364981 RCV005031588

NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)

SNV
Germline

Chr1:94019592

Pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227279

rs_61750567

5 SubmittersRCV000085703 RCV001074107 RCV004689457 RCV005031589

NM_000350.3(ABCA4):c.5196+1G>A

SNV
Germline

Chr1:94019581

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
maculopathy
Retinal dystrophy
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227280

rs_61751377

11 SubmittersRCV000085704 RCV000408528 RCV001002818 RCV001074902 RCV001197154

NM_000350.3(ABCA4):c.5196+2T>C

SNV
Germline

Chr1:94019580

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227284

rs_61751405

4 SubmittersRCV000085708 RCV000408592 RCV001073647

NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)

SNV
Germline

Chr1:94014687

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227298

rs_61750571

8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001352958 RCV001723668 RCV004529892

NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)

SNV
Germline

Chr1:94014622

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227304

rs_61751406

11 SubmittersRCV000085725 RCV000504739 RCV000677343 RCV004767070

NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)

SNV
Germline

Chr1:94014590

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227306

rs_61753029

10 SubmittersRCV000085727 RCV001074166 RCV001199290 RCV001352967 RCV004767071

NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)

SNV
Germline

Chr1:94011334

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227313

rs_62642562

7 SubmittersRCV000085734 RCV000408577 RCV004798774

NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)

SNV
Germline

Chr1:94011319

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227316

rs_62642576

7 SubmittersRCV000085736 RCV004815124 RCV004562248 RCV005406820

NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)

SNV
Germline

Chr1:94011309

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 3
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227317

rs_61750575

5 SubmittersRCV000085737 RCV003152681 RCV004689603 RCV005025166

NM_000350.3(ABCA4):c.5584+6T>C

SNV
Germline

Chr1:94011256

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227320

rs_61750633

6 SubmittersRCV000085739 RCV000678512 RCV000787512 RCV004815125

NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)

SNV
Germline

Chr1:94010911

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Stargardt disease
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa
Retinal dystrophy
ABCA4-related retinopathy

Criteria Provided
Conflicting Classifications

CA202869

rs_1801466

19 SubmittersRCV000085744 RCV000178424 RCV000293913 RCV000309306 RCV000391356 RCV000348932 RCV000721173 RCV001097975 RCV001002812 RCV001197336 RCV001262623 RCV001723669 RCV004815126 RCV005357537

NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)

SNV
Germline

Chr1:94010821

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Inborn genetic diseases
Stargardt disease
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Age related macular degeneration 2
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227333

rs_1800552

19 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV001075015 RCV000778998 RCV000787764 RCV001196150 RCV002470766

NM_000350.3(ABCA4):c.571-2A>G

SNV
Germline

Chr1:94098993

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

No Assertion Criteria Provided

CA227337

rs_61748534

2 SubmittersRCV000008354 RCV000085756

NM_000350.3(ABCA4):c.5714+5G>A

SNV
Germline

Chr1:94010795

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Stargardt disease
Cone-rod dystrophy
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Optic atrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227338

rs_61751407

33 SubmittersRCV000085757 RCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV000778997 RCV001074898 RCV001196124 RCV002498458 RCV004815127 RCV005357538

NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)

SNV
Germline

Chr1:94008825

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227341

rs_61753032

4 SubmittersRCV000085760 RCV005234983

NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)

SNV
Germline

Chr1:94008290

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Age related macular degeneration 2
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA285822

rs_56142141

9 SubmittersRCV000085768 RCV000211880 RCV000284620 RCV000339604 RCV000375640 RCV000379050 RCV001096228 RCV001195781 RCV003888479 RCV004562249

NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)

SNV
Germline

Chr1:94007710

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227357

rs_61750639

11 SubmittersRCV000085778 RCV001002809 RCV001075771 RCV005055577 RCV005234984

NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)

SNV
Germline

Chr1:94007703

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227358

rs_61753037

3 SubmittersRCV000085779 RCV000408461 RCV004815129

NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)

SNV
Germline

Chr1:94005499

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Vitreoretinopathy
Macular dystrophy
Progressive cone dystrophy (without rod involvement)
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227366

rs_61750641

18 SubmittersRCV000085787 RCV000178545 RCV000763436 RCV000787516 RCV000787517 RCV000787766 RCV001074874 RCV001197157 RCV004529893

NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)

SNV
Germline

Chr1:94005476

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227368

rs_61750643

6 SubmittersRCV000085789 RCV000408458 RCV001073850

NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)

SNV
Germline

Chr1:94005470

Pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227369

rs_61753038

10 SubmittersRCV000085790 RCV000787772 RCV000763435 RCV001073783 RCV002283455 RCV004732675

NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)

SNV
Germline

Chr1:94001961

Pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227373

rs_61753039

3 SubmittersRCV000085792 RCV002490744

NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)

SNV
Germline

Chr1:94098944

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA227374

rs_61748536

10 SubmittersRCV000085793 RCV000391995 RCV000986375 RCV001074695 RCV001098370 RCV005357539

NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)

SNV
Germline

Chr1:94001911

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227380

rs_61750645

14 SubmittersRCV000085797 RCV000504630 RCV000787519 RCV001004998 RCV001770079 RCV005357540

NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)

SNV
Germline

Chr1:94001072

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
ABCA4-related retinopathy
Age related macular degeneration 2
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227388

rs_61750648

12 SubmittersRCV000085806 RCV000408484 RCV001075529 RCV004017397 RCV005357541 RCV004783742 RCV005417958

NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)

SNV
Germline

Chr1:94001068

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Macular dystrophy
Retinal dystrophy
ABCA4-related disorder
Stargardt disease
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Optic atrophy
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA227389

rs_62642564

22 SubmittersRCV000085807 RCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV005025167 RCV004815130 RCV005252116

NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)

SNV
Germline

Chr1:94001059

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227392

rs_62642565

5 SubmittersRCV000085809 RCV000504640 RCV004815131

NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)

SNV
Germline

Chr1:94001049

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA227394

rs_61750649

2 SubmittersRCV000085810 RCV004562250

NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)

SNV
Germline

Chr1:94001046

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227396

rs_61748520

9 SubmittersRCV000085811 RCV000318700 RCV001073884 RCV002490746 RCV004529894

NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)

SNV
Germline

Chr1:94001005

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA227399

rs_61750651

3 SubmittersRCV000085815 RCV004562251

NM_000350.3(ABCA4):c.6386+2C>G

SNV
Germline

Chr1:94001000

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227400

rs_61753043

8 SubmittersRCV000085816 RCV000408502 RCV003225930 RCV004815132

NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)

SNV
Germline

Chr1:94000924

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227401

rs_61750652

5 SubmittersRCV000085817 RCV001074273 RCV004526616 RCV005031590

NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)

SNV
Germline

Chr1:94000900

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227402

rs_61750653

6 SubmittersRCV000085818 RCV004815133 RCV004732676 RCV005222752 RCV005237531

NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)

SNV
Germline

Chr1:94000870

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular degeneration
Blindness
Visual loss
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227404

rs_61750654

13 SubmittersRCV000085820 RCV000132593 RCV000505094 RCV000414922 RCV004720238 RCV004724804

NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)

SNV
Germline

Chr1:94000866

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227408

rs_61751384

10 SubmittersRCV000085823 RCV000408531 RCV001074378

NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)

SNV
Germline

Chr1:93998027

Pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227415

rs_61750658

4 SubmittersRCV000085829 RCV001002806 RCV005025168

NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)

SNV
Germline

Chr1:94098904

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227420

rs_61748538

8 SubmittersRCV000085832 RCV000504919 RCV002470767 RCV002498460

NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)

SNV
Germline

Chr1:93997981

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227422

rs_61753045

4 SubmittersRCV000085834 RCV000408488 RCV003888484

NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)

SNV
Germline

Chr1:93997932

Pathogenic/Likely pathogenic

Condition: not provided
Cone dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227425

rs_61753046

14 SubmittersRCV000085837 RCV000504742 RCV000408450 RCV001352970 RCV004529895 RCV004794359

NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)

SNV
Germline

Chr1:93997904

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227432

rs_61750659

5 SubmittersRCV000085842 RCV001075761 RCV004562252 RCV005417959

NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)

SNV
Germline

Chr1:93997869

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227439

rs_61748521

7 SubmittersRCV000085848 RCV001075235 RCV003324515 RCV004786366

NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)

SNV
Germline

Chr1:94113063

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227447

rs_62645942

3 SubmittersRCV000085858 RCV005031591

NM_000350.3(ABCA4):c.71G>A (p.Arg24His)

SNV
Germline

Chr1:94113062

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA227449

rs_62645958

11 SubmittersRCV000085859 RCV000779009 RCV001074842 RCV005234985 RCV004796010 RCV005252754

NM_000350.3(ABCA4):c.768G>T (p.Val256=)

SNV
Germline

Chr1:94098794

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Cone-rod dystrophy 3
Stargardt disease
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227458

rs_62645944

18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV003993802 RCV004529896

NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)

SNV
Germline

Chr1:94080651

Pathogenic/Likely pathogenic

Condition: not provided
Macular dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227468

rs_61748545

6 SubmittersRCV000085874 RCV000504769 RCV001075838 RCV005025170

NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)

SNV
Germline

Chr1:94080595

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227475

rs_61751418

4 SubmittersRCV000085878 RCV000986374 RCV001074202

NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)

SNV
Germline

Chr1:94080594

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA227477

rs_61751419

3 SubmittersRCV000085879 RCV004796011

NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)

SNV
Germline

Chr1:94078652

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232811

rs_201117452

5 SubmittersRCV000132584 RCV000490464

NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)

SNV
Unknown

Chr1:94047039

Pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA345716

rs_527236129

1 SubmittersRCV000132589

NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)

SNV
Germline

Chr1:94005469

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA232815

rs_148460146

13 SubmittersRCV000132592 RCV000986347 RCV001073482 RCV001542554 RCV004732701 RCV004796034

NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)

SNV
Germline

Chr1:94098799

Conflicting classifications of pathogenicity

Cone-rod dystrophy 3
Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA170081

rs_62645952

4 SubmittersRCV000132594 RCV003888541 RCV001857474 RCV004796035

NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)

SNV
Germline

Chr8:86632864

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Achromatopsia
not specified
Abnormality of the eye
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA232853

rs_147876778

16 SubmittersRCV000132679 RCV000174144 RCV000597492 RCV000435881 RCV000501136 RCV000678546 RCV001164460 RCV004815202

NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)

SNV
Germline

Chr1:94021848

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Cone dystrophy
Retinal dystrophy
Optic atrophy
ABCA4-related retinopathy

Criteria Provided
Conflicting Classifications

CA233403

rs_113106943

11 SubmittersRCV000285181 RCV000416254 RCV000408525 RCV000323858 RCV000376503 RCV000381856 RCV000504993 RCV001073617 RCV004815221 RCV005359324

NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)

SNV
Germline

Chr1:94080548

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA233405

rs_145483148

9 SubmittersRCV000152711 RCV000408602 RCV001073800 RCV001096643 RCV001699130

NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)

SNV
Germline

Chr8:86575819

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
Achromatopsia

Criteria Provided
Conflicting Classifications

CA233766

rs_186448979

5 SubmittersRCV000245417 RCV000885622 RCV001160702 RCV001160703 RCV001276120

NM_019098.5(CNGB3):c.644-1G>C

SNV
Germline

Chr8:86667134

Pathogenic

Achromatopsia 3
Condition: not provided
Achromatopsia
Achromatopsia 3
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
CNGB3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273948

rs_201794629

11 SubmittersRCV000169108 RCV000814009 RCV001002980 RCV001535671 RCV004732735

NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)

SNV
Germline

Chr1:94011297

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA244968

rs_377311148

3 SubmittersRCV000296428 RCV000790718 RCV004816288

NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)

SNV
Germline

Chr1:94080697

Pathogenic

Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA203573

rs_794727903

4 SubmittersRCV000180146 RCV005025288 RCV005252791

NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)

SNV
Germline

Chr1:94060733

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA347415

rs_200692438

9 SubmittersRCV000194199 RCV000408459 RCV001071977 RCV001075570 RCV002485297

NM_000350.3(ABCA4):c.4539+2028C>T

SNV
Germline

Chr1:94027417

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10576057

rs_869320785

9 SubmittersRCV000408506 RCV001380975 RCV001074348 RCV004529387

NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)

SNV
Germline

Chr1:93997877

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602404

rs_886044764

1 SubmittersRCV000408503 RCV004816436

NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)

SNV
Germline

Chr1:93997943

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602405

rs_886044763

3 SubmittersRCV000408559 RCV001378637 RCV004783767 RCV004816435

NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)

SNV
Germline

Chr1:93998075

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10602406

rs_886044762

2 SubmittersRCV000408595 RCV004816434 RCV001854788

NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)

SNV
Germline

Chr1:94001062

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602407

rs_886044761

2 SubmittersRCV000408599 RCV001055307 RCV004816433

NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)

SNV
Germline

Chr1:94005511

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602410

rs_886044758

4 SubmittersRCV000408446 RCV000763439 RCV000480932 RCV004816431

NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)

SNV
Germline

Chr1:94007697

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602412

rs_752147871

3 SubmittersRCV000408493 RCV001197194 RCV004816429

NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)

SNV
Germline

Chr1:94007730

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602413

rs_886044756

1 SubmittersRCV000408495 RCV004816428

NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)

SNV
Germline

Chr1:94008252

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957094

rs_142253670

4 SubmittersRCV000408510 RCV000778996 RCV001229952 RCV004816427

NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)

SNV
Germline

Chr1:94010858

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602415

rs_886044754

1 SubmittersRCV000408529 RCV004816424

NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)

SNV
Germline

Chr1:94011288

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602416

rs_886044753

1 SubmittersRCV000408565 RCV004816422

NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)

SNV
Germline

Chr1:94011333

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602417

rs_886044752

3 SubmittersRCV000408470 RCV001854787 RCV004816421

NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)

SNV
Germline

Chr1:94011334

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602418

rs_62642562

2 SubmittersRCV000408514 RCV004816420 RCV003556287

NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)

SNV
Germline

Chr1:94011368

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Inborn genetic diseases
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957241

rs_762632312

3 SubmittersRCV000408453 RCV004629171 RCV001854786 RCV004816419

NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)

SNV
Germline

Chr1:94014685

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA957302

rs_760549861

16 SubmittersRCV000408555 RCV000441041 RCV000826133 RCV001074401 RCV002485455 RCV005252827 RCV004732802

NM_000350.3(ABCA4):c.5312+1G>A

SNV
Germline

Chr1:94015738

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Cone-rod dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10602420

rs_886044750

6 SubmittersRCV000408509 RCV001073541 RCV001383600 RCV001196916 RCV002267732 RCV005418025

NM_000350.3(ABCA4):c.5196+1056A>G

SNV
Germline

Chr1:94018526

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10602421

rs_886044749

8 SubmittersRCV000408562 RCV001074079 RCV001091511 RCV002247669

NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)

SNV
Germline

Chr1:94019589

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602423

rs_886044747

3 SubmittersRCV000408479 RCV001002819 RCV001075418

NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)

SNV
Germline

Chr1:94019641

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
ABCA4-related retinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957371

rs_374343397

4 SubmittersRCV000408584 RCV001854785 RCV005238751 RCV005361363 RCV004816417

NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)

SNV
Germline

Chr1:94021279

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Stargardt disease
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602425

rs_886044746

4 SubmittersRCV000408473 RCV001002822 RCV005090154 RCV004816416

NM_000350.3(ABCA4):c.4773+3A>G

SNV
Germline

Chr1:94021843

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957487

rs_759672616

11 SubmittersRCV000408554 RCV000425309 RCV000787761 RCV005025377

NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)

SNV
Germline

Chr1:94021880

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Stargardt disease

Criteria Provided
Conflicting Classifications

CA957495

rs_777415466

8 SubmittersRCV000408448 RCV000761665 RCV004816415 RCV005418024

NM_000350.3(ABCA4):c.4540-2036C>A

SNV
Germline

Chr1:94027084

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10602428

rs_886044743

2 SubmittersRCV000408541 RCV000607126

NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)

SNV
Germline

Chr1:94029465

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Stargardt disease
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA957590

rs_568792949

10 SubmittersRCV000408586 RCV001074181 RCV001380976 RCV003401161 RCV005031808 RCV004732801

NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)

SNV
Germline

Chr1:94029630

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602429

rs_886044742

2 SubmittersRCV000408486 RCV002519761 RCV004816412

NM_000350.3(ABCA4):c.4352+1G>A

SNV
Germline

Chr1:94030427

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957648

rs_200967229

6 SubmittersRCV000408571 RCV001854784 RCV005418023 RCV003888652

NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)

SNV
Germline

Chr1:94030433

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602430

rs_886044741

1 SubmittersRCV000408520 RCV004816411

NM_000350.3(ABCA4):c.4254-1G>C

SNV
Germline

Chr1:94030527

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602431

rs_886044740

2 SubmittersRCV000408511 RCV001543439 RCV004816410

NM_000350.3(ABCA4):c.4253+5G>A

SNV
Germline

Chr1:94030991

Pathogenic/Likely pathogenic

Stargardt disease
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602432

rs_61750138

8 SubmittersRCV000515660 RCV000504972 RCV000408462 RCV001854783 RCV004526649 RCV005025376

NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)

SNV
Germline

Chr1:94031054

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957690

rs_62642573

2 SubmittersRCV000408552 RCV000778257 RCV004816409

NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)

SNV
Germline

Chr1:94031109

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957700

rs_139109485

2 SubmittersRCV000408505 RCV001240711 RCV004816408

NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)

SNV
Germline

Chr1:94032035

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957778

rs_746541266

5 SubmittersRCV000408545 RCV001092801 RCV001198725 RCV004816406

NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)

SNV
Germline

Chr1:94036787

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602434

rs_886044738

1 SubmittersRCV000408497 RCV004816405

NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)

SNV
Germline

Chr1:94041249

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Autosomal recessive retinitis pigmentosa
Stargardt disease
Retinal dystrophy
Cone-rod dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957928

rs_768278935

7 SubmittersRCV000408467 RCV000761669 RCV001257844 RCV003330593 RCV004816402 RCV002267731 RCV005025375

NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)

SNV
Germline

Chr1:94042797

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA957993

rs_756840095

8 SubmittersRCV000408518 RCV000478178 RCV001196593 RCV001074682 RCV004796121

NM_000350.3(ABCA4):c.2919-10T>C

SNV
Germline

Chr1:94044754

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10602441

rs_886044733

3 SubmittersRCV000408547 RCV001099947 RCV003556286 RCV004816398

NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)

SNV
Germline

Chr1:94046943

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
Cone-rod dystrophy
Macular dystrophy
Stargardt disease
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958124

rs_201471607

13 SubmittersRCV000408500 RCV000413621 RCV000787770 RCV000787491 RCV000787492 RCV000787490 RCV001074886 RCV004796120 RCV004558582 RCV005252130

NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Macular degeneration
Stargardt Disease, Recessive
Retinal dystrophy
Optic atrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease

Criteria Provided
Conflicting Classifications

CA958130

rs_368846708

6 SubmittersRCV000278622 RCV000323631 RCV000425865 RCV000408538 RCV000338922 RCV000373695 RCV004816396 RCV004816397 RCV005025374 RCV005418022

NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)

SNV
Germline

Chr1:94048919

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602442

rs_61749441

1 SubmittersRCV000408471 RCV004816395

NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)

SNV
Germline

Chr1:94051677

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA958220

rs_746566873

6 SubmittersRCV000408530 RCV000490201 RCV001074708 RCV004532828 RCV005406968

NM_000350.3(ABCA4):c.2160+1G>T

SNV
Germline

Chr1:94060536

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602443

rs_61749427

4 SubmittersRCV000408563 RCV001075206 RCV001854780 RCV001352989

NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)

SNV
Germline

Chr1:94062596

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602444

rs_766570903

1 SubmittersRCV000408560 RCV004816394

NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)

SNV
Germline

Chr1:94062623

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602445

rs_886044730

2 SubmittersRCV000408594 RCV004816393 RCV005090153

NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)

SNV
Germline

Chr1:94062692

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
ABCA4-related disorder
Retinitis pigmentosa
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958417

rs_61752398

10 SubmittersRCV000408543 RCV001074552 RCV001090315 RCV004732800 RCV004782319 RCV001723810

NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)

SNV
Germline

Chr1:94063153

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602447

rs_886044728

2 SubmittersRCV000408573 RCV000787483 RCV004816391

NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)

SNV
Germline

Chr1:94063180

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958456

rs_143263315

6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001100049 RCV001441278 RCV003258709 RCV004816390

NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)

SNV
Germline

Chr1:94063258

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA958466

rs_201602424

6 SubmittersRCV000408457 RCV000312006 RCV000298675 RCV000337235 RCV000391529 RCV001522285 RCV001100053 RCV003888651 RCV004020725

NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)

SNV
Germline

Chr1:94063288

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602448

rs_886044727

2 SubmittersRCV000408522 RCV004816389 RCV005090152

NM_000350.3(ABCA4):c.1357-2A>G

SNV
Germline

Chr1:94077889

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602449

rs_886044726

3 SubmittersRCV000408557 RCV004816388 RCV005090151

NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)

SNV
Germline

Chr1:94078653

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602450

rs_886044725

5 SubmittersRCV000408492 RCV001091615 RCV001198958 RCV004816387

NM_000350.3(ABCA4):c.1239+1G>C

SNV
Germline

Chr1:94079321

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA958598

rs_765707028

5 SubmittersRCV000408454 RCV001091616 RCV004816386 RCV005237763

NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)

SNV
Germline

Chr1:94080491

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10602451

rs_61752390

6 SubmittersRCV000414174 RCV000408494 RCV001074163 RCV005025373

NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)

SNV
Germline

Chr1:94111534

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602454

rs_886044722

1 SubmittersRCV000408521 RCV004816383

NM_000350.3(ABCA4):c.160+2T>C

SNV
Germline

Chr1:94112971

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602456

rs_886044721

1 SubmittersRCV000408498 RCV004816381

NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)

SNV
Germline

Chr1:94112973

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602457

rs_886044720

3 SubmittersRCV000408466 RCV002485454 RCV004816380

NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)

SNV
Germline

Chr1:94113047

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602458

rs_886044719

1 SubmittersRCV000408508 RCV004816379

NM_000350.3(ABCA4):c.67-1G>C

SNV
Germline

Chr1:94113067

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602459

rs_778908435

3 SubmittersRCV000408582 RCV001091620 RCV004816378

NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)

SNV
Germline

Chr1:94062608

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10588302

rs_145961131

7 SubmittersRCV000256006 RCV000504776 RCV001075471 RCV005025404 RCV002518745

NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)

SNV
Germline

Chr1:94083372

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958711

rs_138682163

4 SubmittersRCV000255612 RCV000764206 RCV004542963

NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)

SNV
Germline

Chr1:94098907

Pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA10588304

rs_757557272

4 SubmittersRCV000255556 RCV001075801 RCV005025403

NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)

SNV
Germline

Chr1:94014670

Likely pathogenic

Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA10588919

rs_748706582

3 SubmittersRCV000256375 RCV001859496 RCV004563295

NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)

SNV
Germline

Chr1:94005475

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957026

rs_767729255

4 SubmittersRCV000291561 RCV002250614 RCV005031851

NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)

SNV
Germline

Chr1:94077712

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Retinal dystrophy
ABCA4-related disorder
Macular degeneration
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA958501

rs_140482171

11 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV001073584 RCV001102037 RCV000385092 RCV000505101 RCV000512657 RCV000844930

NM_019098.5(CNGB3):c.1833C>T (p.His611=)

SNV
Germline

Chr8:86579201

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia
Achromatopsia 3

Criteria Provided
Conflicting Classifications

CA4799884

rs_368787128

4 SubmittersRCV000259449 RCV001164346 RCV001272479 RCV001164345

NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)

SNV
Germline

Chr1:94078603

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Stargardt disease
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958570

rs_777078540

6 SubmittersRCV000388365 RCV004816512 RCV004586668 RCV005025431

NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)

SNV
Germline

Chr1:94060674

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958364

rs_575453437

8 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV005025432 RCV004558613

NM_019098.5(CNGB3):c.912C>T (p.Val304=)

SNV
Germline

Chr8:86647879

Conflicting classifications of pathogenicity

Achromatopsia 3
not specified
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4800221

rs_117806701

4 SubmittersRCV001159528 RCV000401931 RCV000892241 RCV001159529 RCV001828257

NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)

SNV
Germline

Chr1:94043470

Pathogenic/Likely pathogenic

Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Stargardt disease
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958052

rs_201855602

11 SubmittersRCV001074386 RCV004558614 RCV000412846 RCV001002835 RCV005025438 RCV005252863

NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)

SNV
Germline

Chr8:86626051

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia
Severe early-childhood-onset retinal dystrophy
Achromatopsia 3

Criteria Provided
Conflicting Classifications

CA4799993

rs_140286824

5 SubmittersRCV000308981 RCV001276130 RCV001160802 RCV001160803

NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)

SNV
Germline

Chr1:94041346

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957945

rs_779426136

4 SubmittersRCV004816524 RCV000413704 RCV005235252

NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)

SNV
Germline

Chr1:94078627

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Retinal dystrophy
Condition: not provided
ABCA4-related disorder
Cone-Rod Dystrophy, Recessive
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958572

rs_770439859

5 SubmittersRCV000330893 RCV000295678 RCV000343633 RCV004816525 RCV000523526 RCV001102042 RCV000387710 RCV005429014

NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)

SNV
Germline

Chr1:94077722

Conflicting classifications of pathogenicity

Macular degeneration
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958507

rs_138157885

7 SubmittersRCV000286324 RCV001303441 RCV001590914 RCV000378419 RCV001073691 RCV003323503 RCV005252868

NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)

SNV
Germline

Chr8:86575926

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4799753

rs_78239264

4 SubmittersRCV000261883 RCV000356702 RCV001034257 RCV004816625

NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)

SNV
Germline

Chr8:86626030

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4799987

rs_150642676

3 SubmittersRCV000301489 RCV000356262 RCV000931567 RCV001276129

NM_019098.5(CNGB3):c.*125G>C

SNV
Germline

Chr8:86575679

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA10628358

rs_186370374

2 SubmittersRCV000310278 RCV000398127

NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)

SNV
Germline

Chr8:86626027

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
not specified
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4799986

rs_146062161

8 SubmittersRCV000336568 RCV000394987 RCV000487572 RCV001700999 RCV001833481

NM_019098.5(CNGB3):c.738C>T (p.Thr246=)

SNV
Germline

Chr8:86667039

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4800287

rs_781628736

2 SubmittersRCV000345096 RCV000390143 RCV001489377

NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)

SNV
Germline

Chr8:86575986

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4799764

rs_3735971

2 SubmittersRCV000277134 RCV000332145 RCV001239882

NM_019098.5(CNGB3):c.624C>T (p.Asn208=)

SNV
Germline

Chr8:86668038

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4800336

rs_144347980

2 SubmittersRCV000267952 RCV000361581 RCV000927857

NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)

SNV
Germline

Chr8:86575814

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
not specified
Condition: not provided
Achromatopsia
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4799726

rs_142846289

9 SubmittersRCV000297206 RCV000399992 RCV000608300 RCV000762525 RCV001833480 RCV004816624

NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)

SNV
Germline

Chr8:86579219

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4799887

rs_143131185

3 SubmittersRCV000328479 RCV000383096 RCV000980205 RCV001828363

NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)

SNV
Germline

Chr8:86647878

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Achromatopsia
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4800220

rs_144637286

5 SubmittersRCV000322833 RCV000372778 RCV000762528 RCV001272747 RCV004816626

NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)

SNV
Germline

Chr8:86743585

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4800544

rs_150260103

3 SubmittersRCV000277976 RCV000325972 RCV000900243 RCV001272756

NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)

SNV
Germline

Chr1:94060709

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16042332

rs_865990202

7 SubmittersRCV000414150 RCV001353030 RCV004816637 RCV005027469

NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)

SNV
Germline

Chr1:94108649

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958855

rs_138359497

4 SubmittersRCV000416105 RCV000764208

NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)

SNV
Germline

Chr1:94001071

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16044110

rs_1057520213

6 SubmittersRCV000432926 RCV001074499 RCV004586705 RCV005027484

NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)

SNV
Germline

Chr1:94029621

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA957621

rs_758835368

7 SubmittersRCV000443223 RCV000505057 RCV001075739 RCV000779004 RCV005027483

NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)

SNV
Germline

Chr1:94011274

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957222

rs_371489809

6 SubmittersRCV000421632 RCV002289547 RCV003224874 RCV002480281 RCV004816654

NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)

SNV
Germline

Chr1:94077713

Pathogenic/Likely pathogenic

Condition: not provided
ABCA4-related disorder
Retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958502

rs_752786160

12 SubmittersRCV000429156 RCV000779006 RCV001074731 RCV002250625 RCV002272229 RCV005235274 RCV005355712 RCV004819223

NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)

SNV
Germline

Chr1:94007707

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16617200

rs_1064793014

5 SubmittersRCV000486602 RCV000504970 RCV002248696 RCV002250633

NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)

SNV
Germline

Chr4:127920826

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA3077232

rs_559155109

13 SubmittersRCV000480079 RCV000505174 RCV000505013 RCV000504782 RCV000805545 RCV001542748 RCV002313243 RCV001805096 RCV005027540 RCV005418155

NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)

SNV
Germline

Chr8:86626069

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Achromatopsia
CNGB3-related disorder

Criteria Provided
Conflicting Classifications

CA4799998

rs_115246141

5 SubmittersRCV000480707 RCV000764781 RCV001276131 RCV004535518

NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

Condition: not provided
ABCA4-related disorder
Isolated macular dystrophy
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958129

rs_368846708

6 SubmittersRCV000488184 RCV001099950 RCV001199608 RCV005418162 RCV005248064

NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)

SNV
Germline

Chr1:94021385

Pathogenic/Likely pathogenic

Condition: not provided
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341283189

rs_1085307968

5 SubmittersRCV000489654 RCV001353028 RCV005027567 RCV005252923

NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro)

SNV
Germline

Chr1:94005490

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341278997

rs_1553186896

3 SubmittersRCV000504985 RCV004817733

NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)

SNV
Unknown

Chr1:94011330

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA341281100

rs_1297857869

1 SubmittersRCV000505135

NM_000350.3(ABCA4):c.5196+1137G>A

SNV
Germline

Chr1:94018445

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Macular dystrophy
Stargardt disease
Retinitis pigmentosa 19
Condition: not provided
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA26843511

rs_778234759

13 SubmittersRCV000504847 RCV000504651 RCV000787507 RCV000787508 RCV001542560 RCV001388591 RCV003324531

NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg)

SNV
Unknown

Chr1:94019690

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA341282739

rs_1435203678

1 SubmittersRCV000504832

NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)

SNV
Germline

Chr1:94021892

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Single Submitter

CA341283909

rs_1553188682

2 SubmittersRCV000504799 RCV002524408

NM_000350.3(ABCA4):c.4129-1G>A

SNV
Unknown

Chr1:94031121

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA341286539

rs_1553189507

1 SubmittersRCV000504663

NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter)

SNV
Germline

Chr1:94042830

Pathogenic

Congenital stationary night blindness
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341292154

rs_61751398

2 SubmittersRCV000505122 RCV005407661

NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)

SNV
Germline

Chr1:94043445

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341292652

rs_1553190664

3 SubmittersRCV000504918 RCV003558422 RCV004794397

NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)

SNV
Germline

Chr1:94047024

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958148

rs_149071415

6 SubmittersRCV000504891 RCV001047033 RCV005034047 RCV005356025

NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)

SNV
Germline

Chr1:94108700

Pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA958864

rs_765429911

6 SubmittersRCV000578767 RCV001075053 RCV001376340 RCV005027679

NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)

SNV
Germline

Chr1:94037350

Conflicting classifications of pathogenicity

Condition: not provided
Age related macular degeneration 2
ABCA4-related disorder
Cone-rod dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
not specified
Stargardt disease
ABCA4-related retinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957869

rs_146786552

15 SubmittersRCV000597651 RCV001195780 RCV001101855 RCV002267738 RCV002289889 RCV002497243 RCV003235303 RCV004594081 RCV005367445 RCV004817792

NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)

SNV
Germline

Chr1:94056638

Pathogenic

Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA26844053

rs_911580078

3 SubmittersRCV000594953 RCV005027700

NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)

SNV
Germline

Chr1:94030438

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957650

rs_142506651

3 SubmittersRCV000594447 RCV005357785

NM_000350.3(ABCA4):c.5196+1136C>A

SNV
Germline

Chr1:94018446

Conflicting classifications of pathogenicity

not specified
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA26843516

rs_114147805

3 SubmittersRCV000601786 RCV000986351 RCV001075845

NM_000350.3(ABCA4):c.4539+2064C>T

SNV
Germline

Chr1:94027381

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA658795482

rs_1553189179

7 SubmittersRCV000994041 RCV001352957 RCV004817819

NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)

SNV
Germline

Chr1:94025021

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341284696

rs_1553188916

5 SubmittersRCV000625606 RCV001860463 RCV002289913 RCV004798849

NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)

SNV
Germline

Chr1:94029567

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957608

rs_142732109

5 SubmittersRCV000658513 RCV002249386 RCV002507145

NM_000350.3(ABCA4):c.4539+2001G>A

SNV
Germline

Chr1:94027444

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA524383873

rs_1457937638

7 SubmittersRCV000678510 RCV001074340 RCV001701152

NM_000350.3(ABCA4):c.2587+2T>C

SNV
Germline

Chr1:94055109

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341276768

rs_1557783989

4 SubmittersRCV000722087 RCV001868917 RCV005027888

NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)

SNV
Germline

Chr8:86579136

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
Retinal dystrophy
CNGB3-related retinopathy

Criteria Provided
Conflicting Classifications

CA4799871

rs_139337746

5 SubmittersRCV000727616 RCV001164344 RCV001164343 RCV004817954 RCV005357967

NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)

SNV
Germline

Chr1:94063158

Pathogenic

Condition: not provided
maculopathy
Retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341280062

rs_1557787756

6 SubmittersRCV000760305 RCV001002843 RCV004798864 RCV005029408

NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)

SNV
Germline

Chr1:94031836

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286986

rs_552517556

4 SubmittersRCV000761667 RCV004564474 RCV004800573

NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)

SNV
Germline

Chr1:94019665

Conflicting classifications of pathogenicity

ABCA4-related disorder
Retinal dystrophy
Cone-rod dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 1
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA957376

rs_771038310

8 SubmittersRCV000779001 RCV001074860 RCV001199620 RCV000994038 RCV002267624 RCV003322616 RCV004760780

NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)

SNV
Germline

Chr1:94055297

Pathogenic/Likely pathogenic

Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA26843455

rs_374410829

5 SubmittersRCV001073511 RCV001353035 RCV001683659

NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)

SNV
Germline

Chr1:94019606

Pathogenic/Likely pathogenic

ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341282557

rs_1557767754

4 SubmittersRCV000785053 RCV001353013 RCV001204682 RCV005418344

NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)

SNV
Germline

Chr1:94060739

Likely pathogenic

Cone-rod dystrophy 3
Stargardt disease
Condition: not provided
Cone-rod dystrophy 3
Age related macular degeneration 2
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341278906

rs_141823837

5 SubmittersRCV000786893 RCV001002840 RCV003768465 RCV005029445 RCV004817995

NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)

SNV
Germline

Chr1:94001919

Pathogenic/Likely pathogenic

Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA956985

rs_367839100

6 SubmittersRCV000850519 RCV001074418 RCV001234782 RCV001262439 RCV004733063

NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)

SNV
Germline

Chr8:86726550

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Achromatopsia
CNGB3-related disorder

Criteria Provided
Conflicting Classifications

CA4800444

rs_146688972

6 SubmittersRCV000905932 RCV001161028 RCV001161029 RCV001272753 RCV004733088

NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)

SNV
Germline

Chr8:86629031

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia
Achromatopsia 3
not specified

Criteria Provided
Conflicting Classifications

CA4800041

rs_141934736

5 SubmittersRCV000926379 RCV001162416 RCV001272740 RCV001162415 RCV005436345

NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)

SNV
Germline

Chr8:86576075

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Achromatopsia
CNGB3-related disorder

Criteria Provided
Conflicting Classifications

CA4799784

rs_112573107

4 SubmittersRCV000933583 RCV001162312 RCV001162313 RCV001276124 RCV004733090

NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)

SNV
Germline

Chr8:86629052

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4800046

rs_768959472

3 SubmittersRCV000941867 RCV001162417 RCV001162418 RCV001272741

NM_019098.5(CNGB3):c.720C>T (p.Leu240=)

SNV
Germline

Chr8:86667057

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4800292

rs_770816095

3 SubmittersRCV000941658 RCV001162523 RCV001162524 RCV001279841

NM_019098.5(CNGB3):c.1178+9T>C

SNV
Germline

Chr8:86643742

Conflicting classifications of pathogenicity

Condition: not provided
Achromatopsia 3
Achromatopsia
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4800139

rs_549858104

3 SubmittersRCV000970399 RCV001164461 RCV001272742 RCV001164462

NM_000350.3(ABCA4):c.5714+1G>T

SNV
Germline

Chr1:94010799

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341280686

rs_1232476760

3 SubmittersRCV000986349 RCV001071878

NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)

SNV
Germline

Chr1:94037229

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341289195

rs_1570367230

2 SubmittersRCV000986361 RCV001244393

NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)

SNV
Germline

Chr1:94037260

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341289365

rs_1366653130

2 SubmittersRCV000986362 RCV001858639

NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)

SNV
Germline

Chr1:94041346

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA341291096

rs_779426136

2 SubmittersRCV000986364 RCV004818091

NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)

SNV
Unknown

Chr1:94055161

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341276870

rs_779466403

1 SubmittersRCV000986367

NM_000350.3(ABCA4):c.2161-1G>A

SNV
Unknown

Chr1:94056823

Pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341278183

rs_1401924846

1 SubmittersRCV000986368

NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)

SNV
Germline

Chr1:94062668

Pathogenic/Likely pathogenic

Stargardt disease
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341279484

rs_1557787473

4 SubmittersRCV001002841 RCV000986370 RCV001858641

NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)

SNV
Germline

Chr1:94077880

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341282199

rs_1366296798

2 SubmittersRCV000986371 RCV001869332

NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)

SNV
Germline

Chr1:94121010

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA26845230

rs_761209432

2 SubmittersRCV000986377 RCV005092967

NM_019098.5(CNGB3):c.1781+1G>T

SNV
Germline

Chr8:86604092

Pathogenic

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA371448976

rs_1375507464

1 SubmittersRCV000999643

NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)

SNV
Germline

Chr1:94021404

Conflicting classifications of pathogenicity

Stargardt disease
Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957438

rs_61752439

5 SubmittersRCV001002824 RCV001074894 RCV001216794 RCV004563619

NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)

SNV
Germline

Chr1:94014674

Conflicting classifications of pathogenicity

Isolated macular dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
ABCA4-related retinopathy
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957299

rs_375184282

6 SubmittersRCV001199622 RCV001352943 RCV001450679 RCV005359739 RCV004818161

NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)

SNV
Germline

Chr1:94005475

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA341278940

rs_767729255

1 SubmittersRCV001029767

NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)

SNV
Germline

Chr1:94010872

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 3
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA957186

rs_369973540

5 SubmittersRCV001058803 RCV002471022 RCV004813655 RCV005029638

NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)

SNV
Germline

Chr1:94014620

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA341281392

rs_1188515677

3 SubmittersRCV001040976 RCV002479263 RCV001270350

NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)

SNV
Germline

Chr1:94044716

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341275224

rs_1368508052

5 SubmittersRCV001040117 RCV001352962 RCV004813571

NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met)

SNV
Germline

Chr1:94044733

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
ABCA4-related retinopathy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA958090

rs_148015012

5 SubmittersRCV001063061 RCV004813673 RCV005359834 RCV005029647

NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)

SNV
Germline

Chr1:94051660

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341276127

rs_1660843703

7 SubmittersRCV001068714 RCV001073797 RCV004594246

NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)

SNV
Germline

Chr1:94077748

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341281909

rs_1661575232

4 SubmittersRCV001052785 RCV001075839 RCV005036344

NM_000350.3(ABCA4):c.1342A>G (p.Met448Val)

SNV
Germline

Chr1:94078604

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA341282274

rs_1169850759

3 SubmittersRCV001063057 RCV004702620 RCV005036365

NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter)

SNV
Germline

Chr1:94113040

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286738

rs_1191816747

5 SubmittersRCV001074538 RCV001067891 RCV005232105 RCV005236580

NM_000350.3(ABCA4):c.859-9T>C

SNV
Germline

Chr1:94080727

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958689

rs_529598960

8 SubmittersRCV001065436 RCV001074005 RCV004536128 RCV005235516 RCV005036373

NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)

SNV
Germline

Chr1:93997872

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA956820

rs_779585931

5 SubmittersRCV001073878 RCV001371824 RCV004564573 RCV005029676

NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)

SNV
Germline

Chr1:94001949

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341278309

rs_1362964563

5 SubmittersRCV001073480 RCV004587039 RCV003558652 RCV005029675

NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)

SNV
Germline

Chr1:94005494

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA26835427

rs_183398940

3 SubmittersRCV001074505 RCV001366334 RCV004570317

NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)

SNV
Germline

Chr1:94007688

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341279552

rs_1259778135

3 SubmittersRCV001074320 RCV001209734 RCV004570316

NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)

SNV
Germline

Chr1:94019719

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA957380

rs_201996979

4 SubmittersRCV001073357 RCV001247223 RCV005029673

NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)

SNV
Germline

Chr1:94021846

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Stargardt disease
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957488

rs_751844313

5 SubmittersRCV001075350 RCV001340257 RCV004017784 RCV004564577

NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)

SNV
Germline

Chr1:94023386

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341284162

rs_1385119665

5 SubmittersRCV001075014 RCV001220523 RCV004733152 RCV004564576

NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)

SNV
Germline

Chr1:94041345

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341291094

rs_1801269

4 SubmittersRCV001073590 RCV003405293 RCV005036386

NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)

SNV
Germline

Chr1:94060702

Pathogenic

Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958369

rs_757302286

5 SubmittersRCV001074567 RCV001376519 RCV001381381 RCV005029680

NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)

SNV
Germline

Chr1:94063146

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958448

rs_374224955

3 SubmittersRCV001073439 RCV001862502 RCV005029674

NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)

SNV
Germline

Chr1:94080709

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease 3

Criteria Provided
Conflicting Classifications

CA958686

rs_781716640

7 SubmittersRCV001074574 RCV001268174 RCV001729794 RCV004559903

NM_000350.3(ABCA4):c.6817-2A>G

SNV
Germline

Chr1:93993244

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341275661

rs_1658918693

3 SubmittersRCV001074566 RCV001862833 RCV003989637

NM_000350.3(ABCA4):c.4849-1G>A

SNV
Germline

Chr1:94021410

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA957439

rs_61750156

6 SubmittersRCV001074206 RCV001235111 RCV004564575 RCV005029679 RCV004733150

NM_000350.3(ABCA4):c.3523-2A>G

SNV
Germline

Chr1:94040129

Pathogenic/Likely pathogenic

Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341290274

rs_1168144507

2 SubmittersRCV001075055 RCV005235521

NM_000350.3(ABCA4):c.302+4A>C

SNV
Germline

Chr1:94111434

Pathogenic/Likely pathogenic

Retinal dystrophy
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA645372153

rs_1662599697

5 SubmittersRCV001075244 RCV004689988 RCV005029682 RCV005253712 RCV005093414

NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)

SNV
Germline

Chr8:86578705

Conflicting classifications of pathogenicity

Achromatopsia 3
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Achromatopsia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4799813

rs_377730576

4 SubmittersRCV001162314 RCV001247986 RCV001162315 RCV001828576 RCV003353182

NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)

SNV
Germline

Chr8:86626046

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Achromatopsia 3
Condition: not provided
Achromatopsia

Criteria Provided
Conflicting Classifications

CA4799990

rs_751667290

3 SubmittersRCV001160801 RCV001160800 RCV001240796 RCV001828574

NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)

SNV
Germline

Chr8:86667056

Conflicting classifications of pathogenicity

Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4800291

rs_138320784

2 SubmittersRCV001160908 RCV001162522 RCV001474218

NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)

SNV
Germline

Chr1:94098886

Conflicting classifications of pathogenicity

Age related macular degeneration 2
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958769

rs_149780335

5 SubmittersRCV001196793 RCV001233979 RCV001352988 RCV005359925

NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)

SNV
Germline

Chr1:94037146

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341288631

rs_1660360744

2 SubmittersRCV001232792 RCV003313997

NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)

SNV
Germline

Chr1:94041379

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957956

rs_369440533

4 SubmittersRCV001235193 RCV004557470

NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)

SNV
Germline

Chr1:94046937

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341275316

rs_1291080436

4 SubmittersRCV001230252 RCV004587084 RCV005036499

NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr1:94120985

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA958970

rs_770272033

3 SubmittersRCV001233348 RCV001353021 RCV004813942

NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)

SNV
Germline

Chr1:94001082

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA956910

rs_568627877

3 SubmittersRCV001240517 RCV004562083 RCV005057139

NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)

SNV
Germline

Chr1:94010823

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341280743

rs_771092150

3 SubmittersRCV001296443 RCV001352990 RCV005236773

NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)

SNV
Germline

Chr1:94044647

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341275089

rs_1660620409

2 SubmittersRCV001294592 RCV001376520

NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser)

SNV
Germline

Chr1:94080558

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy
not specified

Criteria Provided
Conflicting Classifications

CA341284121

rs_1191143782

3 SubmittersRCV001297313 RCV005029864 RCV004690068

NM_000350.3(ABCA4):c.4217A>G (p.His1406Arg)

SNV
Germline

Chr1:94031032

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341286159

rs_1660186858

2 SubmittersRCV001324844 RCV005235564

NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)

SNV
Germline

Chr1:94014679

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957300

rs_771742619

3 SubmittersRCV001344272 RCV004563030

NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)

SNV
Germline

Chr1:94042841

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinitis pigmentosa 19
Age related macular degeneration 2
Cone-rod dystrophy 3
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA341292199

rs_1660531924

3 SubmittersRCV001350170 RCV004699327 RCV005023077

NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)

SNV
Germline

Chr1:93996194

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341275868

rs_1658995249

1 SubmittersRCV001353004

NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)

SNV
Germline

Chr1:94000887

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341277325

rs_1659153516

1 SubmittersRCV001353009

NM_000350.3(ABCA4):c.6282+1G>C

SNV
Germline

Chr1:94001857

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA956976

rs_770453727

2 SubmittersRCV001352994 RCV004815443

NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)

SNV
Germline

Chr1:94005466

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA341278911

rs_1462350577

3 SubmittersRCV001352992 RCV002548492 RCV004699329

NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)

SNV
Unknown

Chr1:94007715

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341279654

rs_1659429594

1 SubmittersRCV001353016

NM_000350.3(ABCA4):c.5461-6T>C

SNV
Germline

Chr1:94011391

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA1181408092

rs_1659543067

1 SubmittersRCV001352975

NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)

SNV
Germline

Chr1:94014626

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341281404

rs_1659672463

2 SubmittersRCV001352984 RCV005094466

NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)

SNV
Germline

Chr1:94015740

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA26842500

rs_374015407

3 SubmittersRCV001366508 RCV001353043 RCV004815444

NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)

SNV
Germline

Chr1:94021280

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA341282967

rs_1211325812

6 SubmittersRCV001353015 RCV001379165 RCV001724300 RCV004733268

NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)

SNV
Unknown

Chr1:94021300

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341283009

rs_1659888526

1 SubmittersRCV001352944

NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)

SNV
Germline

Chr1:94029601

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341285265

rs_1347261858

2 SubmittersRCV001352952 RCV001871907

NM_000350.3(ABCA4):c.3523-1G>A

SNV
Germline

Chr1:94040128

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA957902

rs_766239144

1 SubmittersRCV001352986

NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)

SNV
Germline

Chr1:94043347

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA958030

rs_772663974

3 SubmittersRCV001352946 RCV001871906 RCV005408861

NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)

SNV
Germline

Chr1:94044731

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA26839909

rs_61749452

2 SubmittersRCV001353029 RCV001871909

NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)

SNV
Unknown

Chr1:94063130

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341279953

rs_1661175744

1 SubmittersRCV001352949

NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)

SNV
Germline

Chr1:94111556

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341285594

rs_1355238974

3 SubmittersRCV001352982 RCV003490217 RCV005438072

NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)

SNV
Germline

Chr1:94108699

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA958863

rs_759799179

2 SubmittersRCV001367497 RCV002488138

NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)

SNV
Germline

Chr1:94011316

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341281077

rs_2101008373

3 SubmittersRCV001376249 RCV002272462 RCV002550231

NM_000350.3(ABCA4):c.5461-1G>T

SNV
Germline

Chr1:94011386

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341281210

rs_2101008577

3 SubmittersRCV001376209 RCV001379164

NM_000350.3(ABCA4):c.442+2T>A

SNV
Germline

Chr1:94108575

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341292944

rs_1662504014

2 SubmittersRCV001376405 RCV002550236

NM_000350.3(ABCA4):c.3522+1G>A

SNV
Germline

Chr1:94041208

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA341290380

rs_1265840106

2 SubmittersRCV001378602 RCV005023127

NM_000350.3(ABCA4):c.3328+1G>A

SNV
Germline

Chr1:94042760

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341291828

rs_1660527478

2 SubmittersRCV001377471 RCV005235576

NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)

SNV
Germline

Chr1:94019664

Conflicting classifications of pathogenicity

Condition: not provided
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA957375

rs_61753021

5 SubmittersRCV001384258 RCV004733282 RCV004563873 RCV005361592

NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter)

SNV
Germline

Chr1:94029483

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA26853486

rs_888059763

3 SubmittersRCV001385903 RCV004699132

NM_000350.3(ABCA4):c.1761-2A>G

SNV
Germline

Chr1:94062755

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958426

rs_754765164

4 SubmittersRCV001386479 RCV002225134 RCV005038198 RCV005361594

NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)

SNV
Germline

Chr1:94077853

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341282141

rs_2101101348

2 SubmittersRCV001390541 RCV001587394

NM_002335.4(LRP5):c.2829G>A (p.Pro943=)

SNV
Germline

Chr11:68416329

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA6149775

rs_201018263

6 SubmittersRCV001430997 RCV002276734 RCV005626428

NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)

SNV
Germline

Chr1:94001080

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Stargardt disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341277582

rs_2100994049

3 SubmittersRCV001526707 RCV002469401 RCV002568845

NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)

SNV
Germline

Chr1:94042802

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957995

rs_763267492

5 SubmittersRCV001543576 RCV003888303 RCV003989695

NM_000350.3(ABCA4):c.758T>A (p.Leu253His)

SNV
Germline

Chr1:94098804

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341288786

rs_2101135424

1 SubmittersRCV001591788

NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)

SNV
Germline

Chr1:94041382

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341291301

rs_2101048742

1 SubmittersRCV001591820

NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)

SNV
Germline

Chr1:94042793

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341292011

rs_776773510

2 SubmittersRCV001591912 RCV003120640

NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)

SNV
Germline

Chr1:94042826

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341292138

rs_1660531525

2 SubmittersRCV001591918 RCV001882714

NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn)

SNV
Germline

Chr1:94046964

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341275370

rs_754082669

1 SubmittersRCV001591926

NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)

SNV
Germline

Chr1:94011268

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA26838213

rs_200849015

5 SubmittersRCV001682640 RCV004587194 RCV005023215

NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)

SNV
Germline

Chr1:94001089

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341277604

rs_2100994077

3 SubmittersRCV001725798 RCV002539754

NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)

SNV
Germline

Chr1:94001009

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA341277442

rs_2100993895

3 SubmittersRCV001755001 RCV002489788

NM_000350.3(ABCA4):c.4128+1G>A

SNV
Germline

Chr1:94031777

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA341286670

rs_2101036750

3 SubmittersRCV001840952 RCV002292669 RCV005419221

NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys)

SNV
Germline

Chr1:94055149

Likely pathogenic

Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA26843273

rs_143797418

4 SubmittersRCV001894361 RCV004815672 RCV004797959 RCV005409042

NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val)

SNV
Germline

Chr1:94044691

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

CA341275178

rs_1297410481

3 SubmittersRCV001999928 RCV004526889 RCV005025516

NM_000350.3(ABCA4):c.4852T>C (p.Trp1618Arg)

SNV
Germline

Chr1:94021406

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341283239

rs_786205446

2 SubmittersRCV002021962 RCV004565159

NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)

SNV
Germline

Chr1:94042785

Pathogenic/Likely pathogenic

Condition: not provided
Retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA957987

rs_138641544

5 SubmittersRCV001970179 RCV004816824 RCV005623102 RCV004587272 RCV005025523

NM_000350.3(ABCA4):c.6190G>A (p.Ala2064Thr)

SNV
Germline

Chr1:94001950

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA956992

rs_61753040

2 SubmittersRCV001949300 RCV005235620

NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys)

SNV
Germline

Chr1:94030453

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957651

rs_533422156

3 SubmittersRCV002014925 RCV005025567 RCV004816862

NM_000350.3(ABCA4):c.4352+61G>A

SNV
Germline

Chr1:94030367

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA1139769810

rs_1478038032

2 SubmittersRCV002002915 RCV004565162

NM_000350.3(ABCA4):c.5714+1G>A

SNV
Germline

Chr1:94010799

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341280688

rs_1232476760

2 SubmittersRCV001946958 RCV005032010

NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)

SNV
Germline

Chr1:94056636

Pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341277728

rs_2101069632

1 SubmittersRCV002225171

NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)

SNV
Germline

Chr1:93997892

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341276283

rs_2100987881

1 SubmittersRCV002259425

NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)

SNV
Germline

Chr1:94060592

Conflicting classifications of pathogenicity

Severe early-childhood-onset retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA341278530

rs_2523832449

2 SubmittersRCV002289265 RCV003101666

NM_000350.3(ABCA4):c.5460+2T>C

SNV
Germline

Chr1:94014541

Pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

CA341281218

rs_2523668348

1 SubmittersRCV003164452

NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)

SNV
Germline

Chr1:94019665

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341282682

rs_771038310

1 SubmittersRCV002302857

NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)

SNV
Germline

Chr1:94077736

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341281883

rs_2523890741

1 SubmittersRCV002471461

NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)

SNV
Germline

Chr1:94042781

Pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341291940

rs_2523771313

2 SubmittersRCV002730866 RCV004559966

NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)

SNV
Germline

Chr1:94000918

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341277387

rs_2523624176

2 SubmittersRCV002862529 RCV004565630

NM_000350.3(ABCA4):c.302+4A>G

SNV
Germline

Chr1:94111434

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA2580063336

rs_1662599697

2 SubmittersRCV002979411 RCV004796749

NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)

SNV
Germline

Chr1:94025030

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341284717

rs_2523707250

2 SubmittersRCV003045921 RCV004565656

NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)

SNV
Unknown

Chr1:94062694

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341279592

rs_2523841647

1 SubmittersRCV003389584

NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)

SNV
Unknown

Chr1:94031057

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341286259

rs_2523729282

1 SubmittersRCV003389596

NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)

SNV
Germline

Chr1:94055274

Pathogenic

Severe early-childhood-onset retinal dystrophy
Condition: not provided
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341277115

rs_1660944269

3 SubmittersRCV003445397 RCV003553940 RCV005036807

NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)

SNV
Germline

Chr1:94000861

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341277275

rs_1571241947

1 SubmittersRCV003494496

NM_000350.3(ABCA4):c.6479+1G>C

SNV
Germline

Chr1:94000835

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341277214

rs_1436211151

2 SubmittersRCV003562249 RCV005235721

NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)

SNV
Germline

Chr1:94103026

Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

CA958816

rs_772735093

2 SubmittersRCV003562273 RCV005036878

NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)

SNV
Germline

Chr1:94011360

Conflicting classifications of pathogenicity

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Conflicting Classifications

CA341281159

rs_2523657983

2 SubmittersRCV003665440 RCV004796834

NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)

SNV
Germline

Chr1:94005544

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

CA341279127

rs_1012284944

1 SubmittersRCV003990938

NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)

SNV
Germline

Chr1:94014652

Pathogenic

Stargardt disease
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341281459

rs_746252741

2 SubmittersRCV004526446 RCV005023562

NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)

SNV
Germline

Chr1:94079331

Pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

rs_2523897592

1 SubmittersRCV004566417

NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)

SNV
Germline

Chr1:94014668

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

rs_2523668882

1 SubmittersRCV004566505

NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)

SNV
Germline

Chr1:94000921

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

rs_2523624191

1 SubmittersRCV004566506

NM_000350.3(ABCA4):c.6220G>T (p.Gly2074Cys)

SNV
Germline

Chr1:94001920

Pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

rs_1659196542

1 SubmittersRCV004574944

NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)

SNV
Germline

Chr1:94080560

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004776461 RCV005059570 RCV004814304

NM_000350.3(ABCA4):c.2654-2A>C

SNV
Germline

Chr1:94048959

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

rs_2101059901

1 SubmittersRCV004586407

NM_000350.3(ABCA4):c.4539+1G>C

SNV
Germline

Chr1:94029444

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004776478

NM_000350.3(ABCA4):c.1597C>T (p.Gln533Ter)

SNV
Germline

Chr1:94063275

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

No Assertion Criteria Provided

1 SubmittersRCV004776487

NM_000350.3(ABCA4):c.5461-6T>G

SNV
Germline

Chr1:94011391

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV004796961

NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)

SNV
Germline

Chr1:94062679

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV004797355

NM_000350.3(ABCA4):c.4693A>T (p.Lys1565Ter)

SNV
Germline

Chr1:94021926

Pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004819042

NM_000350.3(ABCA4):c.1019A>G (p.Tyr340Cys)

SNV
Germline

Chr1:94080558

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV004819953

NM_000350.3(ABCA4):c.3169G>T (p.Glu1057Ter)

SNV
Germline

Chr1:94043357

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005031088

NM_000350.3(ABCA4):c.302+2T>G

SNV
Germline

Chr1:94111436

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005031254

NM_000350.3(ABCA4):c.6209C>G (p.Thr2070Arg)

SNV
Germline

Chr1:94001931

Pathogenic/Likely pathogenic

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005112815 RCV005030957

NM_000350.3(ABCA4):c.6006-1G>A

SNV
Germline

Chr1:94005583

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

1 SubmittersRCV005030970

NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)

SNV
Germline

Chr1:94021387