Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)	SNV Germline	Chr8:86628994	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy not specified Achromatopsia 3 Condition: not provided Achromatopsia	Criteria Provided Conflicting Classifications	CA340372	rs_35365413	9 SubmittersRCV000005538 RCV000378015 RCV000497748 RCV000881356 RCV001276134
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 Cone-rod dystrophy Retinitis pigmentosa Stargardt disease Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age-related macular degeneration Retinitis pigmentosa 19 ABCA4-related disorder Stargardt disease 3	Criteria Provided Conflicting Classifications	CA119128	rs_76157638	33 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787768 RCV000787487 RCV000787486 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239
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 Retinitis pigmentosa 19 not specified ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227031	rs_58331765	12 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV001807722 RCV002247267 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 Stargardt disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA119129	rs_61751408	17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000826132 RCV000763438 RCV001074885 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 not specified Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive Cone dystrophy ABCA4-related disorder Retinitis pigmentosa Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA220688	rs_41292677	20 SubmittersRCV000008335 RCV000078671 RCV000259072 RCV000285333 RCV000393715 RCV000393726 RCV000340261 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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	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	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided ABCA4-related disorder Macular dystrophy Retinal dystrophy Age related macular degeneration 2 Inborn genetic diseases Stargardt disease Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa 19 not specified Retinitis pigmentosa ABCA4-related retinopathy See cases	Criteria Provided Multiple Submitters No Conflicts	CA119132	rs_1800553	50 SubmittersRCV000008339 RCV000008340 RCV000008341 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319
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 ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Macular dystrophy Stargardt disease Retinitis pigmentosa not specified Age related macular degeneration 2 Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA119135	rs_61751374	30 SubmittersRCV000008350 RCV000008348 RCV000085549 RCV000505109 RCV000778259 RCV000763046 RCV000787495 RCV000787493 RCV000787494 RCV001000014 RCV001196125 RCV004814860
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA203216	rs_61750200	20 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000763050 RCV000787521 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	Criteria Provided Conflicting Classifications	CA226918	rs_61748559	7 SubmittersRCV000008357 RCV000085416 RCV001074326
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	SNV Germline	Chr1:94063250	Pathogenic/Likely pathogenic	Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinal dystrophy Macular dystrophy Stargardt disease not specified Age related macular degeneration 2 ABCA4-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226911	rs_61751392	25 SubmittersRCV000504750 RCV000408513 RCV000505133 RCV000787482 RCV000787481 RCV001002385 RCV001196126 RCV004528784 RCV000085410
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 ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Stargardt disease Retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA129033	rs_61750130	23 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000778258 RCV000763044 RCV000787498 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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	20 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 ABCA4-related disorder Condition: not provided Retinal dystrophy not specified Optic atrophy	Criteria Provided Conflicting Classifications	CA340713	rs_121909207	10 SubmittersRCV000008373 RCV000778999 RCV000994036 RCV001073346 RCV003317029 RCV004814862
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 Stargardt Disease, Recessive Macular degeneration Stargardt disease ABCA4-related disorder Retinal dystrophy Stargardt disease 3	Criteria Provided Conflicting Classifications	CA119146	rs_1801581	17 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000399411 RCV000294335 RCV001002837 RCV001101950 RCV003887858 RCV004558243
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	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227113	rs_61751399	7 SubmittersRCV000085574 RCV001073572 RCV000023141 RCV000504768
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 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220683	rs_61750120	18 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308
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 Benign concentric annular macular dystrophy Retinal dystrophy Macular dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa Stargardt disease not specified Retinitis pigmentosa 19 ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220687	rs_1800728	32 SubmittersRCV000008366 RCV000078669 RCV000177965 RCV000210325 RCV000210327 RCV000504857 RCV000678511 RCV000763440 RCV000787510 RCV000787771 RCV001000430 RCV001542559 RCV004732655 RCV004975272
NM_000350.3(ABCA4):c.67-2A>G	SNV Germline	Chr1:94113068	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Macular degeneration Retinal atrophy Visual impairment Central scotoma Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA345425	rs_398123339	7 SubmittersRCV000078672 RCV000415227 RCV000723703 RCV001074239
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	SNV Germline	Chr1:94079421	Conflicting classifications of pathogenicity	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Autosomal recessive retinitis pigmentosa ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA226872	rs_61748549	12 SubmittersRCV000764205 RCV000986372 RCV001073759 RCV001257823 RCV001096640 RCV000085376
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	Criteria Provided Multiple Submitters No Conflicts	CA226886	rs_61748552	5 SubmittersRCV000085388 RCV000210294 RCV000504649
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	SNV Germline	Chr1:94077833	Conflicting classifications of pathogenicity	Inborn genetic diseases Stargardt disease ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 not specified Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA226892	rs_1800548	13 SubmittersRCV000622340 RCV001002844 RCV001102041 RCV001074274 RCV001808322 RCV003317086 RCV003128228 RCV000085395
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 Retinal dystrophy Macular dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226904	rs_61748556	7 SubmittersRCV000085405 RCV000408566 RCV001074843 RCV000505043
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	Criteria Provided Multiple Submitters No Conflicts	CA226908	rs_150774447	9 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)	SNV Not provided	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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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	Criteria Provided Multiple Submitters No Conflicts	CA226922	rs_61751385	4 SubmittersRCV000085420 RCV000132587 RCV003888471
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Cone-rod dystrophy 3 ABCA4-related disorder Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease 3 Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA226932	rs_61749409	22 SubmittersRCV000085428 RCV000504951 RCV000408597 RCV000850520 RCV001723664 RCV001353025 RCV001849310 RCV002498452 RCV002250560 RCV004558305 RCV003324506
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	Criteria Provided Multiple Submitters No Conflicts	CA226949	rs_61749414	5 SubmittersRCV000085440 RCV000408491 RCV004815083
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	SNV Germline	Chr1:94062587	Conflicting classifications of pathogenicity	Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA201008	rs_61749417	9 SubmittersRCV000260757 RCV000353201 RCV000356519 RCV000318324 RCV000986369 RCV001075850 RCV001098279 RCV000085445 RCV000174470
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	SNV Germline	Chr1:94062586	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Cone-rod dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA226958	rs_61754024	12 SubmittersRCV000408583 RCV001074170 RCV001098278 RCV004720237 RCV000085446
NM_000350.3(ABCA4):c.1937+1G>A	SNV Germline	Chr1:94062576	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease 3 See cases Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA226961	rs_61752401	11 SubmittersRCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV004815084 RCV000085448
NM_000350.3(ABCA4):c.1938-1G>A	SNV Germline	Chr1:94060760	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Condition: not provided Macular dystrophy	No Assertion Criteria Provided	CA226963	rs_61751263	3 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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226965	rs_61749420	12 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 Peripheral neuropathy Abnormal macular morphology Abnormal retinal morphology Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA226972	rs_62654397	8 SubmittersRCV000085457 RCV000414796 RCV000626666 RCV001074514 RCV001198384 RCV004796008 RCV004529883 RCV004586547
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 Stargardt disease 3 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226973	rs_61749423	16 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV004558307 RCV000408512 RCV001073628 RCV001195987 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 Retinal dystrophy Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226990	rs_61751395	8 SubmittersRCV000085471 RCV001074642 RCV000408526 RCV004732664
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	SNV Germline	Chr1:94055245	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227000	rs_61750202	6 SubmittersRCV000085479 RCV000787774 RCV001075477 RCV002250561
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	SNV Germline	Chr1:94055152	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Optic atrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227008	rs_61749435	9 SubmittersRCV000986366 RCV001074506 RCV004815087 RCV000085485
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	SNV Germline	Chr1:94055138	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227010	rs_61749437	6 SubmittersRCV000504877 RCV001075467 RCV000085487
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)	SNV Germline	Chr1:94055134	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227011	rs_61752406	6 SubmittersRCV000085488 RCV001073601 RCV000408572
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 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227042	rs_61748529	10 SubmittersRCV000085515 RCV000986376 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	Criteria Provided Multiple Submitters No Conflicts	CA227050	rs_61749450	4 SubmittersRCV000085522 RCV000999861 RCV002225080
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	SNV Germline	Chr1:94046922	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227059	rs_61749454	9 SubmittersRCV000085529 RCV000504904 RCV004732667 RCV001074424
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	SNV Germline	Chr1:94044692	Pathogenic/Likely pathogenic	Condition: not provided Macular dystrophy Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder Optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA227061	rs_61749455	12 SubmittersRCV000085531 RCV000505091 RCV001073380 RCV002247488 RCV003989317 RCV004699118 RCV004529886 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.3055A>G (p.Thr1019Ala)	SNV Germline	Chr1:94043471	Pathogenic	Condition: not provided Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	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 ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227078	rs_61749459	8 SubmittersRCV000085545 RCV004529887 RCV000408496 RCV004815097 RCV003324507 RCV004800282
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.3259G>A (p.Glu1087Lys)	SNV Germline	Chr1:94042830	Pathogenic	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Abnormality of the eye Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227097	rs_61751398	13 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001814057 RCV001808323 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 Retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227106	rs_62645946	9 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV001723665 RCV002247489 RCV002051808 RCV003324510 RCV003324509
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227116	rs_1801269	11 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001199211 RCV001075726 RCV004732670
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	SNV Germline	Chr1:94037200	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy ABCA4-related disorder not specified	Criteria Provided Conflicting Classifications	CA227135	rs_61752424	10 SubmittersRCV000408481 RCV000085592 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	4 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	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227169	rs_61750137	12 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV003155072 RCV002490742
NM_000350.3(ABCA4):c.4253+43G>A	SNV Germline	Chr1:94030953	Conflicting classifications of pathogenicity	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227172	rs_61754045	9 SubmittersRCV001199365 RCV001290208 RCV004529888 RCV004815111 RCV000085618
NM_000350.3(ABCA4):c.4253+4C>T	SNV Germline	Chr1:94030992	Pathogenic/Likely pathogenic	Inborn genetic diseases Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227173	rs_61754044	7 SubmittersRCV000624755 RCV001075880 RCV004562247 RCV000085619
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	Criteria Provided Multiple Submitters No Conflicts	CA227174	rs_61750138	6 SubmittersRCV000085620 RCV000504676 RCV001073983 RCV004529889
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)	SNV Unknown	Chr1:94030461	Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	No Assertion Criteria Provided	CA227184	rs_61750141	2 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	Criteria Provided Multiple Submitters No Conflicts	CA227185	rs_61750142	13 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	SNV Germline	Chr1:94029548	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227190	rs_61752434	6 SubmittersRCV000085635 RCV001808324
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227193	rs_61750146	13 SubmittersRCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV000085637
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	Criteria Provided Multiple Submitters No Conflicts	CA227195	rs_61750147	4 SubmittersRCV000085639 RCV002225081
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 ABCA4-related disorder Macular dystrophy Retinitis pigmentosa 19 See cases	Criteria Provided Multiple Submitters No Conflicts	CA227198	rs_61751402	20 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000779003 RCV000787763 RCV001542643 RCV004584347
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)	SNV Germline	Chr1:94029446	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227206	rs_281865402	7 SubmittersRCV000505160 RCV001376334 RCV000085646
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 Cone-rod dystrophy 3 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227213	rs_62646861	9 SubmittersRCV000085653 RCV000408527 RCV002272126 RCV001075709
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 Stargardt disease not specified ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227215	rs_62646862	13 SubmittersRCV000085654 RCV000408574 RCV000844929 RCV000402682 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	Criteria Provided Multiple Submitters No Conflicts	CA227218	rs_61750152	14 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561
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 Age-related macular degeneration Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227219	rs_62642574	12 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890
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	Severe early-childhood-onset retinal dystrophy not specified Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227222	rs_62642575	6 SubmittersRCV000408504 RCV001002608 RCV004815115 RCV000085659
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	SNV Germline	Chr1:94103119	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Abnormal retinal morphology Inborn genetic diseases Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 ABCA4-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227225	rs_62646863	17 SubmittersRCV000504910 RCV000626667 RCV000622993 RCV000764207 RCV001100155 RCV004815116 RCV000085663
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	SNV Germline	Chr1:94021934	Conflicting classifications of pathogenicity	ABCA4-related disorder Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Retinal dystrophy Stargardt disease Cone-rod dystrophy Cone-rod dystrophy 3 Stargardt disease Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227226	rs_1762111	18 SubmittersRCV000314956 RCV000407014 RCV000335992 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209 RCV000085664
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	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 19 Retinitis pigmentosa ABCA4-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227239	rs_61750155	18 SubmittersRCV000408465 RCV001074177 RCV001002825 RCV001257846 RCV001808326 RCV003387758 RCV004732673 RCV000085674
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)	SNV Germline	Chr1:94103104	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227240	rs_62645943	3 SubmittersRCV000085675 RCV004595918 RCV004815117
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	SNV Germline	Chr1:94021340	Pathogenic/Likely pathogenic; other	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Leber congenital amaurosis Stargardt disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227253	rs_61751404	20 SubmittersRCV000085683 RCV000210311 RCV000408519 RCV000505114 RCV000787504 RCV002505017 RCV004732674 RCV004760372
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	SNV Germline	Chr1:94021339	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Stargardt disease Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227254	rs_61751403	14 SubmittersRCV000321118 RCV000085684 RCV000504816 RCV000787505 RCV003223338
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	SNV Germline	Chr1:94021332	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA227255	rs_61753017	9 SubmittersRCV000986355 RCV001075879 RCV000787506 RCV000085685
NM_000350.3(ABCA4):c.5018+2T>C	SNV Germline	Chr1:94021238	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227264	rs_61750562	9 SubmittersRCV000408523 RCV000085691 RCV001074630
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	SNV Germline	Chr1:94019722	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA227268	rs_61753019	8 SubmittersRCV000986353 RCV001073381 RCV001099771 RCV000085694
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)	SNV Germline	Chr1:94019713	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227270	rs_61753020	4 SubmittersRCV000408570 RCV004815119 RCV000085695
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	SNV Germline	Chr1:94019701	Conflicting classifications of pathogenicity	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA227271	rs_61750563	10 SubmittersRCV001073371 RCV002255285 RCV002470765 RCV004528785 RCV000085696
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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	Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Condition: not provided	Criteria Provided Conflicting Classifications	CA227276	rs_61748532	11 SubmittersRCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV000085700
NM_000350.3(ABCA4):c.5196+1G>A	SNV Germline	Chr1:94019581	Pathogenic	Condition: not provided Retinal dystrophy maculopathy Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227280	rs_61751377	11 SubmittersRCV000085704 RCV001074902 RCV001002818 RCV000408528 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 Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227298	rs_61750571	8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001723668 RCV001352958 RCV004529892
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	SNV Germline	Chr1:94014622	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227304	rs_61751406	11 SubmittersRCV000504739 RCV000085725 RCV000677343 RCV004767070
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	SNV Germline	Chr1:94014590	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227306	rs_61753029	10 SubmittersRCV001074166 RCV001352967 RCV000085727 RCV001199290 RCV004767071
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	SNV Germline	Chr1:94011334	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227313	rs_62642562	7 SubmittersRCV000408577 RCV004798774 RCV000085734
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	Criteria Provided Multiple Submitters No Conflicts	CA227316	rs_62642576	6 SubmittersRCV000085736 RCV004815124 RCV004562248
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	Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa Retinal dystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA202869	rs_1801466	15 SubmittersRCV000348932 RCV000293913 RCV000309306 RCV000391356 RCV000721173 RCV001002812 RCV001097975 RCV001197336 RCV001262623 RCV001723669 RCV004815126 RCV000085744 RCV000178424
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	SNV Germline	Chr1:94010821	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Inborn genetic diseases ABCA4-related disorder Retinitis pigmentosa Stargardt disease Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA227333	rs_1800552	19 SubmittersRCV000408593 RCV000623966 RCV000778998 RCV000787764 RCV000787513 RCV001075015 RCV001196150 RCV002470766 RCV000085752
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	Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Stargardt disease Cone-rod dystrophy Retinal dystrophy ABCA4-related disorder Age related macular degeneration 2 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Optic atrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227338	rs_61751407	32 SubmittersRCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV001074898 RCV000778997 RCV001196124 RCV002498458 RCV004815127 RCV000085757
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.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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Vitreoretinopathy Macular dystrophy Progressive cone dystrophy (without rod involvement) Age related macular degeneration 2 Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227366	rs_61750641	18 SubmittersRCV000085787 RCV000178545 RCV000763436 RCV000787516 RCV000787517 RCV000787766 RCV001197157 RCV001074874 RCV004529893
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	SNV Germline	Chr1:94005476	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227368	rs_61750643	6 SubmittersRCV000085789 RCV001073850 RCV000408458
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	SNV Germline	Chr1:94005470	Pathogenic	Condition: not provided Stargardt disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	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	not specified Retinal dystrophy ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227374	rs_61748536	9 SubmittersRCV000391995 RCV001074695 RCV001098370 RCV000986375 RCV000085793
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	SNV Germline	Chr1:94001072	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease Age related macular degeneration 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227388	rs_61750648	10 SubmittersRCV000408484 RCV001075529 RCV004017397 RCV004783742 RCV000085806
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	SNV Germline	Chr1:94001068	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Macular dystrophy Retinal dystrophy ABCA4-related disorder Stargardt disease Optic atrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA227389	rs_62642564	19 SubmittersRCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV004815130 RCV000085807
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227396	rs_61748520	8 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.6445C>T (p.Arg2149Ter)	SNV Germline	Chr1:94000870	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Visual loss Blindness Macular degeneration Retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227404	rs_61750654	12 SubmittersRCV000085820 RCV000132593 RCV000414922 RCV000505094 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.658C>T (p.Arg220Cys)	SNV Germline	Chr1:94098904	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227420	rs_61748538	7 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	13 SubmittersRCV000085837 RCV000504742 RCV000408450 RCV001352970 RCV004529895 RCV004794359
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	SNV Germline	Chr1:93997904	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227432	rs_61750659	4 SubmittersRCV000085842 RCV001075761 RCV004562252
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	SNV Germline	Chr1:93997869	Conflicting classifications of pathogenicity	Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA227439	rs_61748521	7 SubmittersRCV001075235 RCV003324515 RCV004786366 RCV000085848
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)	SNV Germline	Chr1:94113062	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227449	rs_62645958	8 SubmittersRCV000085859 RCV000779009 RCV001074842 RCV004796010
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 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Macular dystrophy Retinitis pigmentosa Retinal dystrophy Cone-rod dystrophy 3 ABCA4-related disorder Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227458	rs_62645944	18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV004529896 RCV003993802
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	SNV Germline	Chr1:94080595	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227475	rs_61751418	4 SubmittersRCV000085878 RCV001074202 RCV000986374
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)	SNV Germline	Chr1:94080594	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 3 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy	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 Not provided	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	12 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 Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA170081	rs_62645952	4 SubmittersRCV000132594 RCV001857474 RCV003888541 RCV004796035
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)	SNV Germline	Chr8:86632864	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Retinal dystrophy Achromatopsia 3 not specified Abnormality of the eye	Criteria Provided Conflicting Classifications	CA232853	rs_147876778	15 SubmittersRCV000132679 RCV000597492 RCV000678546 RCV001164460 RCV004815202 RCV000174144 RCV000435881 RCV000501136
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	SNV Germline	Chr1:94021848	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy Stargardt Disease, Recessive Condition: not provided Macular degeneration Cone-Rod Dystrophy, Recessive Cone dystrophy Optic atrophy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233403	rs_113106943	9 SubmittersRCV000285181 RCV000408525 RCV000323858 RCV000416254 RCV000376503 RCV000381856 RCV000504993 RCV004815221 RCV001073617
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 ABCA4-related disorder not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA233405	rs_145483148	9 SubmittersRCV000152711 RCV000408602 RCV001096643 RCV001699130 RCV001073800
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/Likely pathogenic	Achromatopsia 3 Condition: not provided Achromatopsia Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa CNGB3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273948	rs_201794629	9 SubmittersRCV000169108 RCV000814009 RCV001002980 RCV001535671 RCV004732735
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)	SNV Germline	Chr1:94011297	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA244968	rs_377311148	3 SubmittersRCV004816288 RCV000296428 RCV000790718
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 Retinal dystrophy Condition: not provided ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10576057	rs_869320785	9 SubmittersRCV000408506 RCV001074348 RCV001380975 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	Conflicting classifications of pathogenicity	Condition: not provided 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	Criteria Provided Conflicting Classifications	CA10602405	rs_886044763	3 SubmittersRCV001378637 RCV004816435 RCV000408559 RCV004783767
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)	SNV Germline	Chr1:93998075	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA10602406	rs_886044762	2 SubmittersRCV000408595 RCV001854788 RCV004816434
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	Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602410	rs_886044758	4 SubmittersRCV000763439 RCV000408446 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 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602417	rs_886044752	3 SubmittersRCV000408470 RCV004816421 RCV001854787
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)	SNV Germline	Chr1:94011334	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602418	rs_62642562	2 SubmittersRCV000408514 RCV003556287 RCV004816420
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)	SNV Germline	Chr1:94011368	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA957241	rs_762632312	3 SubmittersRCV000408453 RCV001854786 RCV004816419 RCV004629171
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	SNV Germline	Chr1:94014685	Pathogenic/Likely pathogenic	ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957302	rs_760549861	14 SubmittersRCV004732802 RCV000408555 RCV000441041 RCV000826133 RCV002485455 RCV001074401
NM_000350.3(ABCA4):c.5312+1G>A	SNV Germline	Chr1:94015738	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Cone-rod dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602420	rs_886044750	5 SubmittersRCV000408509 RCV001073541 RCV001196916 RCV002267732 RCV001383600
NM_000350.3(ABCA4):c.5196+1056A>G	SNV Germline	Chr1:94018526	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602421	rs_886044749	8 SubmittersRCV000408562 RCV001091511 RCV002247669 RCV001074079
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	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957371	rs_374343397	2 SubmittersRCV000408584 RCV001854785 RCV004816417
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	SNV Germline	Chr1:94021279	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease	Criteria Provided Single Submitter	CA10602425	rs_886044746	2 SubmittersRCV000408473 RCV004816416 RCV001002822
NM_000350.3(ABCA4):c.4773+3A>G	SNV Germline	Chr1:94021843	Pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA957487	rs_759672616	9 SubmittersRCV000787761 RCV000408554 RCV000425309
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	Criteria Provided Conflicting Classifications	CA957495	rs_777415466	7 SubmittersRCV000408448 RCV000761665 RCV004816415
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 Stargardt disease ABCA4-related disorder Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA957590	rs_568792949	8 SubmittersRCV000408586 RCV003401161 RCV004732801 RCV001074181 RCV001380976
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 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957648	rs_200967229	4 SubmittersRCV000408571 RCV001854784 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	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Condition: not provided Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA10602432	rs_61750138	7 SubmittersRCV000408462 RCV000515660 RCV000504972 RCV001854783 RCV004526649
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	SNV Germline	Chr1:94031054	Pathogenic/Likely pathogenic	ABCA4-related disorder Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957690	rs_62642573	2 SubmittersRCV000778257 RCV000408552 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	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA957778	rs_746541266	5 SubmittersRCV001198725 RCV000408545 RCV004816406 RCV001092801
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	Condition: not provided Severe early-childhood-onset retinal dystrophy Autosomal recessive retinitis pigmentosa Cone-rod dystrophy Retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA957928	rs_768278935	6 SubmittersRCV000761669 RCV000408467 RCV001257844 RCV002267731 RCV004816402 RCV003330593
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	SNV Germline	Chr1:94042797	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Condition: not provided Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA957993	rs_756840095	8 SubmittersRCV000408518 RCV001074682 RCV004796121 RCV000478178 RCV001196593
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	Stargardt disease Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease 3 Retinitis pigmentosa Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy Macular dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA958124	rs_201471607	12 SubmittersRCV000787490 RCV000408500 RCV000413621 RCV004558582 RCV000787770 RCV004796120 RCV000787491 RCV000787492 RCV001074886
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)	SNV Germline	Chr1:94046962	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive Severe early-childhood-onset retinal dystrophy Condition: not provided ABCA4-related disorder Retinal dystrophy Optic atrophy not specified	Criteria Provided Conflicting Classifications	CA958130	rs_368846708	5 SubmittersRCV000278622 RCV000323631 RCV000338922 RCV000373695 RCV000408538 RCV000425865 RCV000778260 RCV004816396 RCV004816397 RCV004689686
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	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA958220	rs_746566873	5 SubmittersRCV000490201 RCV000408530 RCV001074708 RCV004532828
NM_000350.3(ABCA4):c.2160+1G>T	SNV Germline	Chr1:94060536	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602443	rs_61749427	4 SubmittersRCV000408563 RCV001352989 RCV001075206 RCV001854780
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	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602445	rs_886044730	1 SubmittersRCV000408594 RCV004816393
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 Cone-rod dystrophy 3 ABCA4-related disorder Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA958417	rs_61752398	10 SubmittersRCV000408543 RCV001074552 RCV001090315 RCV001723810 RCV004732800 RCV004782319
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 Condition: not provided ABCA4-related disorder Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA958456	rs_143263315	6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001441278 RCV001100049 RCV003258709 RCV004816390
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	SNV Germline	Chr1:94063258	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Condition: not provided Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA958466	rs_201602424	6 SubmittersRCV000298675 RCV000312006 RCV000337235 RCV000391529 RCV000408457 RCV001100053 RCV001522285 RCV003888651 RCV004020725
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)	SNV Germline	Chr1:94063288	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Single Submitter	CA10602448	rs_886044727	1 SubmittersRCV000408522 RCV004816389
NM_000350.3(ABCA4):c.1357-2A>G	SNV Germline	Chr1:94077889	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602449	rs_886044726	2 SubmittersRCV000408557 RCV004816388
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	SNV Germline	Chr1:94078653	Pathogenic	Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602450	rs_886044725	5 SubmittersRCV000408492 RCV001198958 RCV004816387 RCV001091615
NM_000350.3(ABCA4):c.1239+1G>C	SNV Germline	Chr1:94079321	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA958598	rs_765707028	4 SubmittersRCV000408454 RCV001091616 RCV004816386
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	SNV Germline	Chr1:94080491	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602451	rs_61752390	5 SubmittersRCV000408494 RCV000414174 RCV001074163
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 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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 Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10588302	rs_145961131	6 SubmittersRCV000256006 RCV001075471 RCV000504776 RCV002518745
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	SNV Germline	Chr1:94083372	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958711	rs_138682163	4 SubmittersRCV000255612 RCV000764206 RCV004542963
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	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957026	rs_767729255	3 SubmittersRCV000291561 RCV002250614
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 Macular degeneration Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958501	rs_140482171	10 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV000385092 RCV000512657 RCV000505101 RCV000844930 RCV001073584 RCV001102037
NM_019098.5(CNGB3):c.1833C>T (p.His611=)	SNV Germline	Chr8:86579201	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia	Criteria Provided Conflicting Classifications	CA4799884	rs_368787128	4 SubmittersRCV000259449 RCV001164345 RCV001164346 RCV001272479
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 Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA958364	rs_575453437	7 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV004558613
NM_019098.5(CNGB3):c.912C>T (p.Val304=)	SNV Germline	Chr8:86647879	Conflicting classifications of pathogenicity	not specified Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Achromatopsia	Criteria Provided Conflicting Classifications	CA4800221	rs_117806701	4 SubmittersRCV000401931 RCV000892241 RCV001159529 RCV001159528 RCV001828257
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	SNV Germline	Chr1:94043470	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA958052	rs_201855602	9 SubmittersRCV000412846 RCV001074386 RCV001002835 RCV004558614
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)	SNV Germline	Chr8:86626051	Conflicting classifications of pathogenicity	Condition: not provided Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia	Criteria Provided Conflicting Classifications	CA4799993	rs_140286824	5 SubmittersRCV000308981 RCV001160803 RCV001160802 RCV001276130
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)	SNV Germline	Chr1:94077722	Conflicting classifications of pathogenicity	Macular degeneration ABCA4-related disorder Retinitis Pigmentosa, Recessive Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA958507	rs_138157885	6 SubmittersRCV000286324 RCV000321513 RCV000378419 RCV001073691 RCV001303441 RCV001590914 RCV003323503
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	Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Condition: not provided Achromatopsia	Criteria Provided Conflicting Classifications	CA4799987	rs_150642676	3 SubmittersRCV000356262 RCV000301489 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 Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA4800287	rs_781628736	2 SubmittersRCV000345096 RCV001489377 RCV000390143
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 Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA4800336	rs_144347980	2 SubmittersRCV000267952 RCV000927857 RCV000361581
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)	SNV Germline	Chr8:86575814	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Achromatopsia Achromatopsia 3 Retinal dystrophy not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4799726	rs_142846289	9 SubmittersRCV000297206 RCV001833480 RCV000399992 RCV004816624 RCV000608300 RCV000762525
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)	SNV Germline	Chr8:86579219	Conflicting classifications of pathogenicity	Achromatopsia 3 Achromatopsia Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA4799887	rs_143131185	3 SubmittersRCV000328479 RCV001828363 RCV000383096 RCV000980205
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.370C>T (p.Arg124Cys)	SNV Germline	Chr1:94108649	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA958855	rs_138359497	4 SubmittersRCV000416105 RCV000764208
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	SNV Germline	Chr1:94029621	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957621	rs_758835368	6 SubmittersRCV000443223 RCV000505057 RCV000779004 RCV001075739
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 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957222	rs_371489809	6 SubmittersRCV000421632 RCV002289547 RCV002480281 RCV003224874 RCV004816654
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	SNV Germline	Chr1:94077713	Conflicting classifications of pathogenicity	Condition: not provided ABCA4-related disorder Retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA958502	rs_752786160	9 SubmittersRCV000429156 RCV000779006 RCV001074731 RCV002272229 RCV002250625 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 Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Neuronal ceroid lipofuscinosis 7 Macular dystrophy with central cone involvement Neuronal ceroid lipofuscinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3077232	rs_559155109	9 SubmittersRCV000480079 RCV000505013 RCV000505174 RCV000504782 RCV000805545 RCV001542748 RCV001805096 RCV002313243
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.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	12 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.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.319C>T (p.Arg107Ter)	SNV Germline	Chr1:94108700	Pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA958864	rs_765429911	5 SubmittersRCV000578767 RCV001075053 RCV001376340
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	SNV Germline	Chr1:94037350	Conflicting classifications of pathogenicity	Condition: not provided ABCA4-related disorder Age related macular degeneration 2 Cone-rod dystrophy Retinitis pigmentosa 19 not specified Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Retinal dystrophy Stargardt disease	Criteria Provided Conflicting Classifications	CA957869	rs_146786552	14 SubmittersRCV000597651 RCV001101855 RCV001195780 RCV002267738 RCV002289889 RCV003235303 RCV002497243 RCV004817792 RCV004594081
NM_000350.3(ABCA4):c.5196+1136C>A	SNV Germline	Chr1:94018446	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy not specified Retinal dystrophy	Criteria Provided Conflicting Classifications	CA26843516	rs_114147805	3 SubmittersRCV000986351 RCV000601786 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.5196+1159G>A	SNV Germline	Chr1:94018423	Conflicting classifications of pathogenicity	not specified Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA26843502	rs_80110715	5 SubmittersRCV000613329 RCV000986350 RCV001811117 RCV004817820
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 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications		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		rs_1457937638	7 SubmittersRCV000678510 RCV001074340 RCV001701152
NM_000350.3(ABCA4):c.2587+2T>C	SNV Germline	Chr1:94055109	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1557783989	3 SubmittersRCV000722087 RCV001868917
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	Criteria Provided Conflicting Classifications		rs_139337746	4 SubmittersRCV000727616 RCV001164344 RCV001164343 RCV004817954
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		rs_552517556	4 SubmittersRCV000761667 RCV004564474 RCV004800573
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	SNV Germline	Chr1:94019665	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 1 Retinal dystrophy Cone-rod dystrophy ABCA4-related disorder Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications		rs_771038310	9 SubmittersRCV000994038 RCV002267624 RCV003322616 RCV001074860 RCV001199620 RCV000779001 RCV004760780
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)	SNV Germline	Chr1:94055297	Conflicting classifications of pathogenicity	ABCA4-related disorder Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_374410829	6 SubmittersRCV000778261 RCV001683659 RCV001353035 RCV001073511
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)	SNV Germline	Chr1:94019606	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1557767754	3 SubmittersRCV001204682 RCV001353013 RCV000785053
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	SNV Germline	Chr1:94001919	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Condition: not provided Cone-rod dystrophy 3 Retinal dystrophy Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications		rs_367839100	7 SubmittersRCV000850519 RCV001234782 RCV001262439 RCV001074418 RCV002051899 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		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 Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia	Criteria Provided Conflicting Classifications		rs_141934736	4 SubmittersRCV000926379 RCV001162415 RCV001162416 RCV001272740
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		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 Achromatopsia Severe early-childhood-onset retinal dystrophy Achromatopsia 3	Criteria Provided Conflicting Classifications		rs_768959472	3 SubmittersRCV000941867 RCV001272741 RCV001162417 RCV001162418
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)	SNV Germline	Chr8:86667057	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Achromatopsia	Criteria Provided Conflicting Classifications		rs_770816095	3 SubmittersRCV000941658 RCV001162524 RCV001162523 RCV001279841
NM_019098.5(CNGB3):c.1178+9T>C	SNV Germline	Chr8:86643742	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Achromatopsia 3 Achromatopsia	Criteria Provided Conflicting Classifications		rs_549858104	3 SubmittersRCV000970399 RCV001164462 RCV001164461 RCV001272742
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		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		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		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		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		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		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		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		rs_1366296798	2 SubmittersRCV000986371 RCV001869332
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)	SNV Unknown	Chr1:94121010	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter		rs_761209432	1 SubmittersRCV000986377
NM_019098.5(CNGB3):c.1781+1G>T	SNV Germline	Chr8:86604092	Pathogenic	Severe early-childhood-onset retinal dystrophy Achromatopsia 3	Criteria Provided Single Submitter		rs_1375507464	1 SubmittersRCV000999643
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	SNV Germline	Chr1:94021404	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Conflicting Classifications		rs_61752439	4 SubmittersRCV001216794 RCV001074894 RCV004563619 RCV001002824
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 Retinal dystrophy	Criteria Provided Conflicting Classifications		rs_375184282	5 SubmittersRCV001199622 RCV001352943 RCV001450679 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		rs_767729255	1 SubmittersRCV001029767
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)	SNV Germline	Chr1:94014620	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications		rs_1188515677	3 SubmittersRCV001040976 RCV001270350 RCV002479263
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)	SNV Germline	Chr1:94044716	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_1368508052	5 SubmittersRCV001352962 RCV001040117 RCV004813571
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		rs_1660843703	7 SubmittersRCV001068714 RCV001073797 RCV004594246
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	Criteria Provided Multiple Submitters No Conflicts		rs_779585931	4 SubmittersRCV001073878 RCV001371824 RCV004564573
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		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		rs_1259778135	3 SubmittersRCV001074320 RCV001209734 RCV004570316
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	SNV Germline	Chr1:94021846	Pathogenic/Likely pathogenic	Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_751844313	5 SubmittersRCV001075350 RCV004017784 RCV004564577 RCV001340257
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)	SNV Germline	Chr1:94023386	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications		rs_1385119665	5 SubmittersRCV001075014 RCV001220523 RCV004564576 RCV004733152
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	Criteria Provided Multiple Submitters No Conflicts		rs_757302286	4 SubmittersRCV001074567 RCV001376519 RCV001381381
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		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		rs_1658918693	3 SubmittersRCV001074566 RCV001862833 RCV003989637
NM_000350.3(ABCA4):c.4849-1G>A	SNV Germline	Chr1:94021410	Pathogenic	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_61750156	5 SubmittersRCV001074206 RCV001235111 RCV004564575 RCV004733150
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)	SNV Germline	Chr8:86578705	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_377730576	4 SubmittersRCV001162314 RCV001162315 RCV001828576 RCV003353182 RCV001247986
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)	SNV Germline	Chr8:86626046	Conflicting classifications of pathogenicity	Achromatopsia 3 Severe early-childhood-onset retinal dystrophy Achromatopsia Condition: not provided	Criteria Provided Conflicting Classifications		rs_751667290	3 SubmittersRCV001160800 RCV001160801 RCV001828574 RCV001240796
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		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	Criteria Provided Conflicting Classifications		rs_149780335	4 SubmittersRCV001196793 RCV001233979 RCV001352988
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		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		rs_369440533	3 SubmittersRCV001235193 RCV004557470
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)	SNV Germline	Chr1:94120985	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_770272033	3 SubmittersRCV001353021 RCV004813942 RCV001233348
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)	SNV Germline	Chr1:94001082	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter		rs_568627877	2 SubmittersRCV001240517 RCV004562083
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	Criteria Provided Multiple Submitters No Conflicts		rs_771092150	2 SubmittersRCV001296443 RCV001352990
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		rs_1660620409	2 SubmittersRCV001294592 RCV001376520
NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)	SNV Germline	Chr1:94014679	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter		rs_771742619	2 SubmittersRCV001344272 RCV004563030
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		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		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		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		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		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		rs_1659543067	1 SubmittersRCV001352975
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)	SNV Unknown	Chr1:94014626	Likely pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter		rs_1659672463	1 SubmittersRCV001352984
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)	SNV Germline	Chr1:94015740	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_374015407	3 SubmittersRCV001353043 RCV004815444 RCV001366508
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		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		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		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		rs_766239144	1 SubmittersRCV001352986
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)	SNV Germline	Chr1:94043347	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_772663974	2 SubmittersRCV001352946 RCV001871906
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		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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1355238974	2 SubmittersRCV001352982 RCV003490217
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)	SNV Germline	Chr1:94108699	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications		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		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		rs_2101008577	3 SubmittersRCV001376209 RCV001379164
NM_000350.3(ABCA4):c.442+2T>A	SNV Germline	Chr1:94108575	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1662504014	2 SubmittersRCV001376405 RCV002550236
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)	SNV Germline	Chr1:94019664	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications		rs_61753021	4 SubmittersRCV001384258 RCV004563873 RCV004733282
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_754765164	2 SubmittersRCV001386479 RCV002225134
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		rs_2101101348	2 SubmittersRCV001390541 RCV001587394
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		rs_2100994049	3 SubmittersRCV001526707 RCV002469401 RCV002568845
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)	SNV Germline	Chr1:94042802	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_763267492	5 SubmittersRCV003989695 RCV001543576 RCV003888303
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		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		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		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		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		rs_754082669	1 SubmittersRCV001591926
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		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 Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications		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	Criteria Provided Multiple Submitters No Conflicts		rs_2101036750	2 SubmittersRCV001840952 RCV002292669
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	Criteria Provided Multiple Submitters No Conflicts		rs_143797418	3 SubmittersRCV001894361 RCV004815672 RCV004797959
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		rs_786205446	2 SubmittersRCV002021962 RCV004565159
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	SNV Germline	Chr1:94042785	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts		rs_138641544	4 SubmittersRCV002250790 RCV004816824 RCV001970179 RCV004587272
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		rs_1478038032	2 SubmittersRCV002002915 RCV004565162
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)	SNV Germline	Chr1:94056636	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter		rs_2101069632	1 SubmittersRCV002225171
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)	SNV Germline	Chr1:94041261	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2101048479	2 SubmittersRCV002250867 RCV002282701
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		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			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			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			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			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			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			2 SubmittersRCV002862529 RCV004565630
NM_000350.3(ABCA4):c.302+4A>G	SNV Germline	Chr1:94111434	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	Criteria Provided Conflicting Classifications			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			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			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			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	Criteria Provided Single Submitter			2 SubmittersRCV003445397 RCV003553940
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			1 SubmittersRCV003494496
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 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications			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			1 SubmittersRCV003990938
NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)	SNV Germline	Chr1:94079331	Pathogenic	Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV004574944
NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)	SNV Germline	Chr1:94080560	Pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			2 SubmittersRCV004814304 RCV004776461
NM_000350.3(ABCA4):c.2654-2A>C	SNV Germline	Chr1:94048959	Likely pathogenic	Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Single Submitter			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	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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	Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy 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_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)

SNV
Germline

Chr8:86628994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA340372

rs_35365413

9 SubmittersRCV000005538 RCV000378015 RCV000497748 RCV000881356 RCV001276134

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
Cone-rod dystrophy
Retinitis pigmentosa
Stargardt disease
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age-related macular degeneration
Retinitis pigmentosa 19
ABCA4-related disorder
Stargardt disease 3

Criteria Provided
Conflicting Classifications

CA119128

rs_76157638

33 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787768 RCV000787487 RCV000787486 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239

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
Retinitis pigmentosa 19
not specified
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227031

rs_58331765

12 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV001807722 RCV002247267 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
Stargardt disease
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2

Criteria Provided
Multiple Submitters
No Conflicts

CA119129

rs_61751408

17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000826132 RCV000763438 RCV001074885 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
not specified
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Cone dystrophy
ABCA4-related disorder
Retinitis pigmentosa
Retinal dystrophy
Stargardt disease
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2

Criteria Provided
Conflicting Classifications

CA220688

rs_41292677

20 SubmittersRCV000008335 RCV000078671 RCV000259072 RCV000285333 RCV000393715 RCV000393726 RCV000340261 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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119132

rs_1800553

50 SubmittersRCV000008339 RCV000008340 RCV000008341 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119135

rs_61751374

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203216

rs_61750200

20 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000763050 RCV000787521 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

Criteria Provided
Conflicting Classifications

CA226918

rs_61748559

7 SubmittersRCV000008357 RCV000085416 RCV001074326

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

SNV
Germline

Chr1:94063250

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226911

rs_61751392

25 SubmittersRCV000504750 RCV000408513 RCV000505133 RCV000787482 RCV000787481 RCV001002385 RCV001196126 RCV004528784 RCV000085410

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
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Stargardt disease
Retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA129033

rs_61750130

23 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000778258 RCV000763044 RCV000787498 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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Retinitis pigmentosa 19
ABCA4-related retinopathy
Leber congenital amaurosis 14
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

20 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
ABCA4-related disorder
Condition: not provided
Retinal dystrophy
not specified
Optic atrophy

Criteria Provided
Conflicting Classifications

CA340713

rs_121909207

10 SubmittersRCV000008373 RCV000778999 RCV000994036 RCV001073346 RCV003317029 RCV004814862

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
Stargardt Disease, Recessive
Macular degeneration
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Stargardt disease 3

Criteria Provided
Conflicting Classifications

CA119146

rs_1801581

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227113

rs_61751399

7 SubmittersRCV000085574 RCV001073572 RCV000023141 RCV000504768

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
Severe early-childhood-onset retinal dystrophy
Cone-rod dystrophy 3
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220683

rs_61750120

18 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220687

rs_1800728

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

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

SNV
Germline

Chr1:94113068

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Macular degeneration
Retinal atrophy
Visual impairment
Central scotoma
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA345425

rs_398123339

7 SubmittersRCV000078672 RCV000415227 RCV000723703 RCV001074239

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

SNV
Germline

Chr1:94079421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226872

rs_61748549

12 SubmittersRCV000764205 RCV000986372 RCV001073759 RCV001257823 RCV001096640 RCV000085376

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226886

rs_61748552

5 SubmittersRCV000085388 RCV000210294 RCV000504649

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

SNV
Germline

Chr1:94077833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226892

rs_1800548

13 SubmittersRCV000622340 RCV001002844 RCV001102041 RCV001074274 RCV001808322 RCV003317086 RCV003128228 RCV000085395

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
Retinal dystrophy
Macular dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226904

rs_61748556

7 SubmittersRCV000085405 RCV000408566 RCV001074843 RCV000505043

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226908

rs_150774447

9 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079

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

SNV
Not provided

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226922

rs_61751385

4 SubmittersRCV000085420 RCV000132587 RCV003888471

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy 3
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
Stargardt disease 3
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA226932

rs_61749409

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226949

rs_61749414

5 SubmittersRCV000085440 RCV000408491 RCV004815083

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

SNV
Germline

Chr1:94062587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201008

rs_61749417

9 SubmittersRCV000260757 RCV000353201 RCV000356519 RCV000318324 RCV000986369 RCV001075850 RCV001098279 RCV000085445 RCV000174470

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

SNV
Germline

Chr1:94062586

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226958

rs_61754024

12 SubmittersRCV000408583 RCV001074170 RCV001098278 RCV004720237 RCV000085446

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

SNV
Germline

Chr1:94062576

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226961

rs_61752401

11 SubmittersRCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV004815084 RCV000085448

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

SNV
Germline

Chr1:94060760

Pathogenic

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

No Assertion Criteria Provided

CA226963

rs_61751263

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

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226965

rs_61749420

12 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
Peripheral neuropathy
Abnormal macular morphology
Abnormal retinal morphology
Retinal dystrophy
Age related macular degeneration 2
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA226972

rs_62654397

8 SubmittersRCV000085457 RCV000414796 RCV000626666 RCV001074514 RCV001198384 RCV004796008 RCV004529883 RCV004586547

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
Stargardt disease 3
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Age related macular degeneration 2
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226973

rs_61749423

16 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV004558307 RCV000408512 RCV001073628 RCV001195987 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
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226990

rs_61751395

8 SubmittersRCV000085471 RCV001074642 RCV000408526 RCV004732664

NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)

SNV
Germline

Chr1:94055245

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227000

rs_61750202

6 SubmittersRCV000085479 RCV000787774 RCV001075477 RCV002250561

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

SNV
Germline

Chr1:94055152

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227008

rs_61749435

9 SubmittersRCV000986366 RCV001074506 RCV004815087 RCV000085485

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

SNV
Germline

Chr1:94055138

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227010

rs_61749437

6 SubmittersRCV000504877 RCV001075467 RCV000085487

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

SNV
Germline

Chr1:94055134

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227011

rs_61752406

6 SubmittersRCV000085488 RCV001073601 RCV000408572

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
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227042

rs_61748529

10 SubmittersRCV000085515 RCV000986376 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

Criteria Provided
Multiple Submitters
No Conflicts

CA227050

rs_61749450

4 SubmittersRCV000085522 RCV000999861 RCV002225080

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

SNV
Germline

Chr1:94046922

Pathogenic/Likely pathogenic

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227059

rs_61749454

9 SubmittersRCV000085529 RCV000504904 RCV004732667 RCV001074424

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

SNV
Germline

Chr1:94044692

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227061

rs_61749455

12 SubmittersRCV000085531 RCV000505091 RCV001073380 RCV002247488 RCV003989317 RCV004699118 RCV004529886 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.3055A>G (p.Thr1019Ala)

SNV
Germline

Chr1:94043471

Pathogenic

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

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
ABCA4-related disorder
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA227078

rs_61749459

8 SubmittersRCV000085545 RCV004529887 RCV000408496 RCV004815097 RCV003324507 RCV004800282

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.3259G>A (p.Glu1087Lys)

SNV
Germline

Chr1:94042830

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227097

rs_61751398

13 SubmittersRCV000085562 RCV001075833 RCV001199228 RCV001814057 RCV001808323 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
Retinitis pigmentosa
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Stargardt disease
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227106

rs_62645946

9 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV001723665 RCV002247489 RCV002051808 RCV003324510 RCV003324509

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Age related macular degeneration 2
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227116

rs_1801269

11 SubmittersRCV000085576 RCV000408578 RCV000763045 RCV001199211 RCV001075726 RCV004732670

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

SNV
Germline

Chr1:94037200

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227135

rs_61752424

10 SubmittersRCV000408481 RCV000085592 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

4 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

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227169

rs_61750137

12 SubmittersRCV000085616 RCV000408549 RCV001074847 RCV003155072 RCV002490742

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

SNV
Germline

Chr1:94030953

Conflicting classifications of pathogenicity

Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA227172

rs_61754045

9 SubmittersRCV001199365 RCV001290208 RCV004529888 RCV004815111 RCV000085618

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

SNV
Germline

Chr1:94030992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227173

rs_61754044

7 SubmittersRCV000624755 RCV001075880 RCV004562247 RCV000085619

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227174

rs_61750138

6 SubmittersRCV000085620 RCV000504676 RCV001073983 RCV004529889

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

SNV
Unknown

Chr1:94030461

Likely pathogenic

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

No Assertion Criteria Provided

CA227184

rs_61750141

2 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

Criteria Provided
Multiple Submitters
No Conflicts

CA227185

rs_61750142

13 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511

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

SNV
Germline

Chr1:94029548

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227190

rs_61752434

6 SubmittersRCV000085635 RCV001808324

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227193

rs_61750146

13 SubmittersRCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV000085637

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227195

rs_61750147

4 SubmittersRCV000085639 RCV002225081

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
ABCA4-related disorder
Macular dystrophy
Retinitis pigmentosa 19
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA227198

rs_61751402

20 SubmittersRCV000085641 RCV000177442 RCV000210300 RCV000779003 RCV000787763 RCV001542643 RCV004584347

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

SNV
Germline

Chr1:94029446

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227206

rs_281865402

7 SubmittersRCV000505160 RCV001376334 RCV000085646

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
Cone-rod dystrophy 3
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227213

rs_62646861

9 SubmittersRCV000085653 RCV000408527 RCV002272126 RCV001075709

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
Stargardt disease
not specified
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227215

rs_62646862

13 SubmittersRCV000085654 RCV000408574 RCV000844929 RCV000402682 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

Criteria Provided
Multiple Submitters
No Conflicts

CA227218

rs_61750152

14 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561

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
Age-related macular degeneration
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227219

rs_62642574

12 SubmittersRCV000085657 RCV000177510 RCV001002826 RCV001074286 RCV001535669 RCV003235039 RCV004529890

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

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

Criteria Provided
Conflicting Classifications

CA227222

rs_62642575

6 SubmittersRCV000408504 RCV001002608 RCV004815115 RCV000085659

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

SNV
Germline

Chr1:94103119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227225

rs_62646863

17 SubmittersRCV000504910 RCV000626667 RCV000622993 RCV000764207 RCV001100155 RCV004815116 RCV000085663

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

SNV
Germline

Chr1:94021934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227226

rs_1762111

18 SubmittersRCV000314956 RCV000407014 RCV000335992 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209 RCV000085664

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

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Stargardt disease
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa 19
Retinitis pigmentosa
ABCA4-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA227239

rs_61750155

18 SubmittersRCV000408465 RCV001074177 RCV001002825 RCV001257846 RCV001808326 RCV003387758 RCV004732673 RCV000085674

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

SNV
Germline

Chr1:94103104

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227240

rs_62645943

3 SubmittersRCV000085675 RCV004595918 RCV004815117

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

SNV
Germline

Chr1:94021340

Pathogenic/Likely pathogenic; other

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

20 SubmittersRCV000085683 RCV000210311 RCV000408519 RCV000505114 RCV000787504 RCV002505017 RCV004732674 RCV004760372

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

SNV
Germline

Chr1:94021339

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227254

rs_61751403

14 SubmittersRCV000321118 RCV000085684 RCV000504816 RCV000787505 RCV003223338

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

SNV
Germline

Chr1:94021332

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227255

rs_61753017

9 SubmittersRCV000986355 RCV001075879 RCV000787506 RCV000085685

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

SNV
Germline

Chr1:94021238

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227264

rs_61750562

9 SubmittersRCV000408523 RCV000085691 RCV001074630

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

SNV
Germline

Chr1:94019722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227268

rs_61753019

8 SubmittersRCV000986353 RCV001073381 RCV001099771 RCV000085694

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

SNV
Germline

Chr1:94019713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227270

rs_61753020

4 SubmittersRCV000408570 RCV004815119 RCV000085695

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

SNV
Germline

Chr1:94019701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227271

rs_61750563

10 SubmittersRCV001073371 RCV002255285 RCV002470765 RCV004528785 RCV000085696

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

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

Criteria Provided
Conflicting Classifications

CA227276

rs_61748532

11 SubmittersRCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV000085700

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

SNV
Germline

Chr1:94019581

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227280

rs_61751377

11 SubmittersRCV000085704 RCV001074902 RCV001002818 RCV000408528 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
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227298

rs_61750571

8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001723668 RCV001352958 RCV004529892

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

SNV
Germline

Chr1:94014622

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227304

rs_61751406

11 SubmittersRCV000504739 RCV000085725 RCV000677343 RCV004767070

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

SNV
Germline

Chr1:94014590

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227306

rs_61753029

10 SubmittersRCV001074166 RCV001352967 RCV000085727 RCV001199290 RCV004767071

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

SNV
Germline

Chr1:94011334

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227313

rs_62642562

7 SubmittersRCV000408577 RCV004798774 RCV000085734

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227316

rs_62642576

6 SubmittersRCV000085736 RCV004815124 RCV004562248

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

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

Criteria Provided
Conflicting Classifications

CA202869

rs_1801466

15 SubmittersRCV000348932 RCV000293913 RCV000309306 RCV000391356 RCV000721173 RCV001002812 RCV001097975 RCV001197336 RCV001262623 RCV001723669 RCV004815126 RCV000085744 RCV000178424

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

SNV
Germline

Chr1:94010821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227333

rs_1800552

19 SubmittersRCV000408593 RCV000623966 RCV000778998 RCV000787764 RCV000787513 RCV001075015 RCV001196150 RCV002470766 RCV000085752

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227338

rs_61751407

32 SubmittersRCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV001074898 RCV000778997 RCV001196124 RCV002498458 RCV004815127 RCV000085757

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.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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Vitreoretinopathy
Macular dystrophy
Progressive cone dystrophy (without rod involvement)
Age related macular degeneration 2
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227366

rs_61750641

18 SubmittersRCV000085787 RCV000178545 RCV000763436 RCV000787516 RCV000787517 RCV000787766 RCV001197157 RCV001074874 RCV004529893

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

SNV
Germline

Chr1:94005476

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227368

rs_61750643

6 SubmittersRCV000085789 RCV001073850 RCV000408458

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

SNV
Germline

Chr1:94005470

Pathogenic

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

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

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

Criteria Provided
Conflicting Classifications

CA227374

rs_61748536

9 SubmittersRCV000391995 RCV001074695 RCV001098370 RCV000986375 RCV000085793

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

SNV
Germline

Chr1:94001072

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227388

rs_61750648

10 SubmittersRCV000408484 RCV001075529 RCV004017397 RCV004783742 RCV000085806

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

SNV
Germline

Chr1:94001068

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227389

rs_62642564

19 SubmittersRCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV004815130 RCV000085807

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA227396

rs_61748520

8 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.6445C>T (p.Arg2149Ter)

SNV
Germline

Chr1:94000870

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227404

rs_61750654

12 SubmittersRCV000085820 RCV000132593 RCV000414922 RCV000505094 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.658C>T (p.Arg220Cys)

SNV
Germline

Chr1:94098904

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227420

rs_61748538

7 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

13 SubmittersRCV000085837 RCV000504742 RCV000408450 RCV001352970 RCV004529895 RCV004794359

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

SNV
Germline

Chr1:93997904

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227432

rs_61750659

4 SubmittersRCV000085842 RCV001075761 RCV004562252

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

SNV
Germline

Chr1:93997869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227439

rs_61748521

7 SubmittersRCV001075235 RCV003324515 RCV004786366 RCV000085848

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

SNV
Germline

Chr1:94113062

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227449

rs_62645958

8 SubmittersRCV000085859 RCV000779009 RCV001074842 RCV004796010

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
Cone-rod dystrophy 3
Retinitis pigmentosa 19
Age related macular degeneration 2
Severe early-childhood-onset retinal dystrophy
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Cone-rod dystrophy 3
ABCA4-related disorder
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227458

rs_62645944

18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV004529896 RCV003993802

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

SNV
Germline

Chr1:94080595

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227475

rs_61751418

4 SubmittersRCV000085878 RCV001074202 RCV000986374

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

SNV
Germline

Chr1:94080594

Pathogenic/Likely pathogenic

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

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
Not provided

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

12 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
Condition: not provided
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA170081

rs_62645952

4 SubmittersRCV000132594 RCV001857474 RCV003888541 RCV004796035

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

SNV
Germline

Chr8:86632864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA232853

rs_147876778

15 SubmittersRCV000132679 RCV000597492 RCV000678546 RCV001164460 RCV004815202 RCV000174144 RCV000435881 RCV000501136

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

SNV
Germline

Chr1:94021848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233403

rs_113106943

9 SubmittersRCV000285181 RCV000408525 RCV000323858 RCV000416254 RCV000376503 RCV000381856 RCV000504993 RCV004815221 RCV001073617

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
ABCA4-related disorder
not specified
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA233405

rs_145483148

9 SubmittersRCV000152711 RCV000408602 RCV001096643 RCV001699130 RCV001073800

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273948

rs_201794629

9 SubmittersRCV000169108 RCV000814009 RCV001002980 RCV001535671 RCV004732735

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

SNV
Germline

Chr1:94011297

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA244968

rs_377311148

3 SubmittersRCV004816288 RCV000296428 RCV000790718

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
Retinal dystrophy
Condition: not provided
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10576057

rs_869320785

9 SubmittersRCV000408506 RCV001074348 RCV001380975 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

Conflicting classifications of pathogenicity

Condition: not provided
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

Criteria Provided
Conflicting Classifications

CA10602405

rs_886044763

3 SubmittersRCV001378637 RCV004816435 RCV000408559 RCV004783767

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

SNV
Germline

Chr1:93998075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10602406

rs_886044762

2 SubmittersRCV000408595 RCV001854788 RCV004816434

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602410

rs_886044758

4 SubmittersRCV000763439 RCV000408446 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
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602417

rs_886044752

3 SubmittersRCV000408470 RCV004816421 RCV001854787

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

SNV
Germline

Chr1:94011334

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602418

rs_62642562

2 SubmittersRCV000408514 RCV003556287 RCV004816420

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

SNV
Germline

Chr1:94011368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA957241

rs_762632312

3 SubmittersRCV000408453 RCV001854786 RCV004816419 RCV004629171

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

SNV
Germline

Chr1:94014685

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957302

rs_760549861

14 SubmittersRCV004732802 RCV000408555 RCV000441041 RCV000826133 RCV002485455 RCV001074401

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

SNV
Germline

Chr1:94015738

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602420

rs_886044750

5 SubmittersRCV000408509 RCV001073541 RCV001196916 RCV002267732 RCV001383600

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

SNV
Germline

Chr1:94018526

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602421

rs_886044749

8 SubmittersRCV000408562 RCV001091511 RCV002247669 RCV001074079

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957371

rs_374343397

2 SubmittersRCV000408584 RCV001854785 RCV004816417

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

SNV
Germline

Chr1:94021279

Likely pathogenic

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

Criteria Provided
Single Submitter

CA10602425

rs_886044746

2 SubmittersRCV000408473 RCV004816416 RCV001002822

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

SNV
Germline

Chr1:94021843

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957487

rs_759672616

9 SubmittersRCV000787761 RCV000408554 RCV000425309

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

Criteria Provided
Conflicting Classifications

CA957495

rs_777415466

7 SubmittersRCV000408448 RCV000761665 RCV004816415

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
Stargardt disease
ABCA4-related disorder
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA957590

rs_568792949

8 SubmittersRCV000408586 RCV003401161 RCV004732801 RCV001074181 RCV001380976

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
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA957648

rs_200967229

4 SubmittersRCV000408571 RCV001854784 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602432

rs_61750138

7 SubmittersRCV000408462 RCV000515660 RCV000504972 RCV001854783 RCV004526649

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

SNV
Germline

Chr1:94031054

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957690

rs_62642573

2 SubmittersRCV000778257 RCV000408552 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957778

rs_746541266

5 SubmittersRCV001198725 RCV000408545 RCV004816406 RCV001092801

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

Condition: not provided
Severe early-childhood-onset retinal dystrophy
Autosomal recessive retinitis pigmentosa
Cone-rod dystrophy
Retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA957928

rs_768278935

6 SubmittersRCV000761669 RCV000408467 RCV001257844 RCV002267731 RCV004816402 RCV003330593

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

SNV
Germline

Chr1:94042797

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957993

rs_756840095

8 SubmittersRCV000408518 RCV001074682 RCV004796121 RCV000478178 RCV001196593

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958124

rs_201471607

12 SubmittersRCV000787490 RCV000408500 RCV000413621 RCV004558582 RCV000787770 RCV004796120 RCV000787491 RCV000787492 RCV001074886

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

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958130

rs_368846708

5 SubmittersRCV000278622 RCV000323631 RCV000338922 RCV000373695 RCV000408538 RCV000425865 RCV000778260 RCV004816396 RCV004816397 RCV004689686

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958220

rs_746566873

5 SubmittersRCV000490201 RCV000408530 RCV001074708 RCV004532828

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

SNV
Germline

Chr1:94060536

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602443

rs_61749427

4 SubmittersRCV000408563 RCV001352989 RCV001075206 RCV001854780

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

Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602445

rs_886044730

1 SubmittersRCV000408594 RCV004816393

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
Cone-rod dystrophy 3
ABCA4-related disorder
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA958417

rs_61752398

10 SubmittersRCV000408543 RCV001074552 RCV001090315 RCV001723810 RCV004732800 RCV004782319

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
Condition: not provided
ABCA4-related disorder
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958456

rs_143263315

6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001441278 RCV001100049 RCV003258709 RCV004816390

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

SNV
Germline

Chr1:94063258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958466

rs_201602424

6 SubmittersRCV000298675 RCV000312006 RCV000337235 RCV000391529 RCV000408457 RCV001100053 RCV001522285 RCV003888651 RCV004020725

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

SNV
Germline

Chr1:94063288

Pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Single Submitter

CA10602448

rs_886044727

1 SubmittersRCV000408522 RCV004816389

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

SNV
Germline

Chr1:94077889

Pathogenic/Likely pathogenic

Severe early-childhood-onset retinal dystrophy
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602449

rs_886044726

2 SubmittersRCV000408557 RCV004816388

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

SNV
Germline

Chr1:94078653

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602450

rs_886044725

5 SubmittersRCV000408492 RCV001198958 RCV004816387 RCV001091615

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

SNV
Germline

Chr1:94079321

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958598

rs_765707028

4 SubmittersRCV000408454 RCV001091616 RCV004816386

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

SNV
Germline

Chr1:94080491

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602451

rs_61752390

5 SubmittersRCV000408494 RCV000414174 RCV001074163

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588302

rs_145961131

6 SubmittersRCV000256006 RCV001075471 RCV000504776 RCV002518745

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

SNV
Germline

Chr1:94083372

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958711

rs_138682163

4 SubmittersRCV000255612 RCV000764206 RCV004542963

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957026

rs_767729255

3 SubmittersRCV000291561 RCV002250614

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

Criteria Provided
Conflicting Classifications

CA958501

rs_140482171

10 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV000385092 RCV000512657 RCV000505101 RCV000844930 RCV001073584 RCV001102037

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

SNV
Germline

Chr8:86579201

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4799884

rs_368787128

4 SubmittersRCV000259449 RCV001164345 RCV001164346 RCV001272479

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
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA958364

rs_575453437

7 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV004558613

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

SNV
Germline

Chr8:86647879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4800221

rs_117806701

4 SubmittersRCV000401931 RCV000892241 RCV001159529 RCV001159528 RCV001828257

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

SNV
Germline

Chr1:94043470

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958052

rs_201855602

9 SubmittersRCV000412846 RCV001074386 RCV001002835 RCV004558614

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

SNV
Germline

Chr8:86626051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4799993

rs_140286824

5 SubmittersRCV000308981 RCV001160803 RCV001160802 RCV001276130

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

SNV
Germline

Chr1:94077722

Conflicting classifications of pathogenicity

Macular degeneration
ABCA4-related disorder
Retinitis Pigmentosa, Recessive
Retinal dystrophy
Condition: not provided
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA958507

rs_138157885

6 SubmittersRCV000286324 RCV000321513 RCV000378419 RCV001073691 RCV001303441 RCV001590914 RCV003323503

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

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

Criteria Provided
Conflicting Classifications

CA4799987

rs_150642676

3 SubmittersRCV000356262 RCV000301489 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
Condition: not provided
Severe early-childhood-onset retinal dystrophy

Criteria Provided
Conflicting Classifications

CA4800287

rs_781628736

2 SubmittersRCV000345096 RCV001489377 RCV000390143

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

Criteria Provided
Conflicting Classifications

CA4800336

rs_144347980

2 SubmittersRCV000267952 RCV000927857 RCV000361581

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

SNV
Germline

Chr8:86575814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4799726

rs_142846289

9 SubmittersRCV000297206 RCV001833480 RCV000399992 RCV004816624 RCV000608300 RCV000762525

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

SNV
Germline

Chr8:86579219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4799887

rs_143131185

3 SubmittersRCV000328479 RCV001828363 RCV000383096 RCV000980205

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.370C>T (p.Arg124Cys)

SNV
Germline

Chr1:94108649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958855

rs_138359497

4 SubmittersRCV000416105 RCV000764208

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

SNV
Germline

Chr1:94029621

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957621

rs_758835368

6 SubmittersRCV000443223 RCV000505057 RCV000779004 RCV001075739

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957222

rs_371489809

6 SubmittersRCV000421632 RCV002289547 RCV002480281 RCV003224874 RCV004816654

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

SNV
Germline

Chr1:94077713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958502

rs_752786160

9 SubmittersRCV000429156 RCV000779006 RCV001074731 RCV002272229 RCV002250625 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
Severe early-childhood-onset retinal dystrophy
Retinal dystrophy
Retinitis pigmentosa
Neuronal ceroid lipofuscinosis 7
Macular dystrophy with central cone involvement
Neuronal ceroid lipofuscinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3077232

rs_559155109

9 SubmittersRCV000480079 RCV000505013 RCV000505174 RCV000504782 RCV000805545 RCV001542748 RCV001805096 RCV002313243

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.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

12 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.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.319C>T (p.Arg107Ter)

SNV
Germline

Chr1:94108700

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958864

rs_765429911

5 SubmittersRCV000578767 RCV001075053 RCV001376340

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

SNV
Germline

Chr1:94037350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA957869

rs_146786552

14 SubmittersRCV000597651 RCV001101855 RCV001195780 RCV002267738 RCV002289889 RCV003235303 RCV002497243 RCV004817792 RCV004594081

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

SNV
Germline

Chr1:94018446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA26843516

rs_114147805

3 SubmittersRCV000986351 RCV000601786 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.5196+1159G>A

SNV
Germline

Chr1:94018423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA26843502

rs_80110715

5 SubmittersRCV000613329 RCV000986350 RCV001811117 RCV004817820

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

Criteria Provided
Conflicting Classifications

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

rs_1457937638

7 SubmittersRCV000678510 RCV001074340 RCV001701152

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

SNV
Germline

Chr1:94055109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557783989

3 SubmittersRCV000722087 RCV001868917

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

Criteria Provided
Conflicting Classifications

rs_139337746

4 SubmittersRCV000727616 RCV001164344 RCV001164343 RCV004817954

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

rs_552517556

4 SubmittersRCV000761667 RCV004564474 RCV004800573

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

SNV
Germline

Chr1:94019665

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771038310

9 SubmittersRCV000994038 RCV002267624 RCV003322616 RCV001074860 RCV001199620 RCV000779001 RCV004760780

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

SNV
Germline

Chr1:94055297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374410829

6 SubmittersRCV000778261 RCV001683659 RCV001353035 RCV001073511

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

SNV
Germline

Chr1:94019606

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557767754

3 SubmittersRCV001204682 RCV001353013 RCV000785053

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

SNV
Germline

Chr1:94001919

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_367839100

7 SubmittersRCV000850519 RCV001234782 RCV001262439 RCV001074418 RCV002051899 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

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
Achromatopsia 3
Severe early-childhood-onset retinal dystrophy
Achromatopsia

Criteria Provided
Conflicting Classifications

rs_141934736

4 SubmittersRCV000926379 RCV001162415 RCV001162416 RCV001272740

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

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
Achromatopsia
Severe early-childhood-onset retinal dystrophy
Achromatopsia 3

Criteria Provided
Conflicting Classifications

rs_768959472

3 SubmittersRCV000941867 RCV001272741 RCV001162417 RCV001162418

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

SNV
Germline

Chr8:86667057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_770816095

3 SubmittersRCV000941658 RCV001162524 RCV001162523 RCV001279841

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

SNV
Germline

Chr8:86643742

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_549858104

3 SubmittersRCV000970399 RCV001164462 RCV001164461 RCV001272742

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

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

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

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

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

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

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

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

rs_1366296798

2 SubmittersRCV000986371 RCV001869332

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

SNV
Unknown

Chr1:94121010

Pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

rs_761209432

1 SubmittersRCV000986377

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

SNV
Germline

Chr8:86604092

Pathogenic

Severe early-childhood-onset retinal dystrophy
Achromatopsia 3

Criteria Provided
Single Submitter

rs_1375507464

1 SubmittersRCV000999643

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

SNV
Germline

Chr1:94021404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_61752439

4 SubmittersRCV001216794 RCV001074894 RCV004563619 RCV001002824

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
Retinal dystrophy

Criteria Provided
Conflicting Classifications

rs_375184282

5 SubmittersRCV001199622 RCV001352943 RCV001450679 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

rs_767729255

1 SubmittersRCV001029767

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

SNV
Germline

Chr1:94014620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1188515677

3 SubmittersRCV001040976 RCV001270350 RCV002479263

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

SNV
Germline

Chr1:94044716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1368508052

5 SubmittersRCV001352962 RCV001040117 RCV004813571

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

rs_1660843703

7 SubmittersRCV001068714 RCV001073797 RCV004594246

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_779585931

4 SubmittersRCV001073878 RCV001371824 RCV004564573

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

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

rs_1259778135

3 SubmittersRCV001074320 RCV001209734 RCV004570316

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

SNV
Germline

Chr1:94021846

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_751844313

5 SubmittersRCV001075350 RCV004017784 RCV004564577 RCV001340257

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

SNV
Germline

Chr1:94023386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1385119665

5 SubmittersRCV001075014 RCV001220523 RCV004564576 RCV004733152

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_757302286

4 SubmittersRCV001074567 RCV001376519 RCV001381381

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

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

rs_1658918693

3 SubmittersRCV001074566 RCV001862833 RCV003989637

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

SNV
Germline

Chr1:94021410

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_61750156

5 SubmittersRCV001074206 RCV001235111 RCV004564575 RCV004733150

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

SNV
Germline

Chr8:86578705

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_377730576

4 SubmittersRCV001162314 RCV001162315 RCV001828576 RCV003353182 RCV001247986

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

SNV
Germline

Chr8:86626046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_751667290

3 SubmittersRCV001160800 RCV001160801 RCV001828574 RCV001240796

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

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

Criteria Provided
Conflicting Classifications

rs_149780335

4 SubmittersRCV001196793 RCV001233979 RCV001352988

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

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

rs_369440533

3 SubmittersRCV001235193 RCV004557470

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

SNV
Germline

Chr1:94120985

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770272033

3 SubmittersRCV001353021 RCV004813942 RCV001233348

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

SNV
Germline

Chr1:94001082

Pathogenic

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

Criteria Provided
Single Submitter

rs_568627877

2 SubmittersRCV001240517 RCV004562083

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_771092150

2 SubmittersRCV001296443 RCV001352990

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

rs_1660620409

2 SubmittersRCV001294592 RCV001376520

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

SNV
Germline

Chr1:94014679

Pathogenic

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

Criteria Provided
Single Submitter

rs_771742619

2 SubmittersRCV001344272 RCV004563030

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

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

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

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

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

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

rs_1659543067

1 SubmittersRCV001352975

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

SNV
Unknown

Chr1:94014626

Likely pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

rs_1659672463

1 SubmittersRCV001352984

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

SNV
Germline

Chr1:94015740

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_374015407

3 SubmittersRCV001353043 RCV004815444 RCV001366508

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

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

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

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

rs_766239144

1 SubmittersRCV001352986

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

SNV
Germline

Chr1:94043347

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_772663974

2 SubmittersRCV001352946 RCV001871906

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1355238974

2 SubmittersRCV001352982 RCV003490217

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

SNV
Germline

Chr1:94108699

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_2101008577

3 SubmittersRCV001376209 RCV001379164

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

SNV
Germline

Chr1:94108575

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1662504014

2 SubmittersRCV001376405 RCV002550236

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

SNV
Germline

Chr1:94019664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_61753021

4 SubmittersRCV001384258 RCV004563873 RCV004733282

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754765164

2 SubmittersRCV001386479 RCV002225134

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

rs_2101101348

2 SubmittersRCV001390541 RCV001587394

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

rs_2100994049

3 SubmittersRCV001526707 RCV002469401 RCV002568845

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

SNV
Germline

Chr1:94042802

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_763267492

5 SubmittersRCV003989695 RCV001543576 RCV003888303

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

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

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

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

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

rs_754082669

1 SubmittersRCV001591926

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

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2101036750

2 SubmittersRCV001840952 RCV002292669

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_143797418

3 SubmittersRCV001894361 RCV004815672 RCV004797959

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

rs_786205446

2 SubmittersRCV002021962 RCV004565159

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

SNV
Germline

Chr1:94042785

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_138641544

4 SubmittersRCV002250790 RCV004816824 RCV001970179 RCV004587272

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

rs_1478038032

2 SubmittersRCV002002915 RCV004565162

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

SNV
Germline

Chr1:94056636

Pathogenic

Severe early-childhood-onset retinal dystrophy

Criteria Provided
Single Submitter

rs_2101069632

1 SubmittersRCV002225171

NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)

SNV
Germline

Chr1:94041261

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2101048479

2 SubmittersRCV002250867 RCV002282701

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

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

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

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

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

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

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

2 SubmittersRCV002862529 RCV004565630

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

SNV
Germline

Chr1:94111434

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

Criteria Provided
Conflicting Classifications

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

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

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

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

Criteria Provided
Single Submitter

2 SubmittersRCV003445397 RCV003553940

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

1 SubmittersRCV003494496

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
Retinitis pigmentosa 19
Cone-rod dystrophy 3

Criteria Provided
Conflicting Classifications

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

1 SubmittersRCV003990938

NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)

SNV
Germline

Chr1:94079331