Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004183.4(BEST1):c.422G>A (p.Arg141His)	SNV Germline	Chr11:61955892	Pathogenic/Likely pathogenic	Vitelliform macular dystrophy 2 Autosomal recessive bestrophinopathy Condition: not provided Stargardt disease Retinal dystrophy BEST1-related disorder BEST1-related dominant retinopathy	Criteria Provided Multiple Submitters No Conflicts	CA115724	rs_121918284	16 SubmittersRCV000002862 RCV000002863 RCV000086135 RCV000787541 RCV001075875 RCV004532276 RCV005364864
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)	SNV Germline	Chr6:79916743	Pathogenic/Likely pathogenic	Stargardt disease 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117148	rs_104893946	3 SubmittersRCV000005228 RCV002512800
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	SNV Germline	Chr4:16013299	Pathogenic/Likely pathogenic	Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy Macular dystrophy Stargardt disease Retinitis pigmentosa Retinitis pigmentosa 41 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Stargardt disease 4	Criteria Provided Multiple Submitters No Conflicts	CA117645	rs_137853006	20 SubmittersRCV000005960 RCV000005961 RCV000005962 RCV000479499 RCV000504765 RCV000787649 RCV000787648 RCV001723543 RCV002496275
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	SNV Germline	Chr1:94051698	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Peripheral neuropathy Abnormal macular morphology Retinal dystrophy Inborn genetic diseases Retinitis pigmentosa Stargardt disease Cone-rod dystrophy Age related macular degeneration 2 Age-related macular degeneration Retinitis pigmentosa 19 Cone-rod dystrophy 3 Retinitis pigmentosa 19 ABCA4-related disorder Stargardt disease 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA119128	rs_76157638	36 SubmittersRCV000008328 RCV000008329 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787487 RCV000787486 RCV000787768 RCV001198385 RCV001535670 RCV003224856 RCV004532312 RCV004558239 RCV005025029 RCV005357096
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	SNV Germline	Chr1:94047046	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy not specified Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227031	rs_58331765	14 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV002247267 RCV001807722 RCV005025030 RCV004732538
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	SNV Germline	Chr1:94005509	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA119129	rs_61751408	17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV001074885 RCV000826132 RCV002247268
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	SNV Germline	Chr1:94001992	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive not specified Stargardt Disease, Recessive Macular degeneration Cone dystrophy ABCA4-related disorder Retinitis pigmentosa Retinal dystrophy Stargardt disease Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA220688	rs_41292677	20 SubmittersRCV000008335 RCV000078671 RCV000285333 RCV000393715 RCV000259072 RCV000340261 RCV000393726 RCV000504806 RCV000778139 RCV000787769 RCV001075661 RCV002470704 RCV004783720
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	SNV Germline	Chr1:94043420	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227082	rs_61750061	5 SubmittersRCV000008337 RCV000085548 RCV003398468 RCV004795382
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	SNV Germline	Chr1:94008251	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Condition: not provided ABCA4-related disorder Macular dystrophy Retinal dystrophy Age related macular degeneration 2 Inborn genetic diseases Stargardt disease Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 not specified Retinitis pigmentosa ABCA4-related retinopathy See cases Cone dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Syndromic retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA119132	rs_1800553	56 SubmittersRCV000008340 RCV000008341 RCV000008339 RCV000078670 RCV000273328 RCV000504952 RCV000505149 RCV000678513 RCV000624210 RCV000787514 RCV001254602 RCV001542557 RCV001731281 RCV002247269 RCV003324710 RCV004584319 RCV005417422 RCV005031424 RCV005417423
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	SNV Germline	Chr1:94007731	Conflicting classifications of pathogenicity	Stargardt disease Condition: not provided not specified Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Vitreoretinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA119133	rs_28938473	13 SubmittersRCV000008346 RCV000085773 RCV000259062 RCV000408598 RCV000778995 RCV000787515 RCV001073250
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)	SNV Germline	Chr1:94007727	Pathogenic	Stargardt disease Condition: not provided	Criteria Provided Single Submitter	CA119134	rs_61753034	3 SubmittersRCV000008347 RCV000085774
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	SNV Germline	Chr1:94043413	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Macular dystrophy Stargardt disease Retinitis pigmentosa ABCA4-related disorder not specified Age related macular degeneration 2 Optic atrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA119135	rs_61751374	32 SubmittersRCV000008350 RCV000008348 RCV000085549 RCV000505109 RCV000763046 RCV000787495 RCV000787493 RCV000787494 RCV000778259 RCV001000014 RCV001196125 RCV004814860 RCV005357097
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	SNV Germline	Chr1:94098928	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Stargardt disease Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA203216	rs_61750200	21 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV000763050 RCV001074780 RCV004558240
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	SNV Germline	Chr1:94120994	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA227296	rs_121909205	11 SubmittersRCV000008356 RCV000085719 RCV001075717 RCV004558241
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	SNV Germline	Chr1:94063250	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Retinitis pigmentosa Stargardt disease Macular dystrophy not specified Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA226911	rs_61751392	26 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787481 RCV000787482 RCV001002385 RCV001196126 RCV004528784
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	SNV Germline	Chr1:94031110	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Condition: not provided Mandibulofacial dysostosis with mental deficiency Stargardt disease Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA129033	rs_61750130	24 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV000778258 RCV001075868 RCV004786246
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	SNV Germline	Chr1:94005500	Pathogenic/Likely pathogenic	Retinal dystrophy, early-onset severe Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Age related macular degeneration 2 Cone-rod dystrophy 3 Stargardt disease Retinitis pigmentosa 19 ABCA4-related retinopathy Leber congenital amaurosis 14 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119140	rs_61751383	22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093
NM_000350.3(ABCA4):c.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.2828G>A (p.Arg943Gln)	SNV Germline	Chr1:94047009	Conflicting classifications of pathogenicity	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Severe early-childhood-onset retinal dystrophy Condition: not provided not specified Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive Stargardt disease ABCA4-related disorder Retinal dystrophy Stargardt disease 3 ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA119146	rs_1801581	18 SubmittersRCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000349295 RCV000392936 RCV000294335 RCV000399411 RCV001002837 RCV001101950 RCV003887858 RCV004558243 RCV005364873
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	SNV Germline	Chr6:42721820	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided Macular dystrophy Retinitis pigmentosa Retinal dystrophy PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Stargardt disease Vitelliform macular dystrophy 3 Retinitis pigmentosa 7	Criteria Provided Multiple Submitters No Conflicts	CA122930	rs_61755793	14 SubmittersRCV000014053 RCV000084982 RCV000787664 RCV000787663 RCV001074392 RCV001054658 RCV001250353 RCV001250367 RCV001799605 RCV005234784
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	SNV Germline	Chr6:42721821	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided PRPH2-related disorder maculopathy Retinitis pigmentosa Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Cone-rod dystrophy Stargardt disease Patterned macular dystrophy 1 Retinitis pigmentosa 7 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA122936	rs_61755792	17 SubmittersRCV000014056 RCV000084981 RCV001049315 RCV001003147 RCV001250348 RCV001250349 RCV001250351 RCV001250350 RCV001250352 RCV001352972 RCV002466402 RCV003887869
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)	SNV Germline	Chr6:42704564	Pathogenic/Likely pathogenic	Condition: not provided PRPH2-related disorder Retinal dystrophy Stargardt disease Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA122938	rs_61755798	8 SubmittersRCV000084997 RCV000322776 RCV001074849 RCV001250286 RCV001250287 RCV001250288 RCV002508119
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	SNV Germline	Chr6:42722199	Pathogenic/Likely pathogenic	Retinitis pigmentosa 7 Condition: not provided Patterned dystrophy of the retinal pigment epithelium Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Stargardt disease Choroidal dystrophy, central areolar 2	Criteria Provided Multiple Submitters No Conflicts	CA226209	rs_61755771	14 SubmittersRCV000014067 RCV000084955 RCV001250291 RCV000987699 RCV001039794 RCV001075450 RCV001250276 RCV003987319
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	SNV Germline	Chr6:42721911	Pathogenic/Likely pathogenic	Choroidal dystrophy, central areolar 2 Condition: not provided Cone dystrophy Progressive cone dystrophy (without rod involvement) Retinal dystrophy PRPH2-related disorder maculopathy Patterned dystrophy of the retinal pigment epithelium Stargardt disease Retinitis pigmentosa Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA122946	rs_61755783	19 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001075677 RCV001061048 RCV001003149 RCV001250319 RCV001250318 RCV001250320 RCV001353001
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	SNV Germline	Chr1:94042767	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220683	rs_61750120	20 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308 RCV005338078
NM_000350.3(ABCA4):c.5461-10T>C	SNV Germline	Chr1:94011395	Pathogenic/Likely pathogenic	Cone-rod dystrophy 3 Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Benign concentric annular macular dystrophy Macular dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa Stargardt disease not specified Retinitis pigmentosa 19 Retinitis pigmentosa 19 Cone-rod dystrophy 3 Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA220687	rs_1800728	33 SubmittersRCV000008366 RCV000078669 RCV000177965 RCV000210327 RCV000210325 RCV000504857 RCV000678511 RCV000763440 RCV000787510 RCV000787771 RCV001000430 RCV001542559 RCV005625270 RCV004732655 RCV004975272
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	SNV Germline	Chr4:15991228	Conflicting classifications of pathogenicity	not specified Stargardt disease 4 Retinitis pigmentosa Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided Retinal disorders	Criteria Provided Conflicting Classifications	CA148434	rs_149028760	7 SubmittersRCV000081346 RCV000326660 RCV000381327 RCV000296436 RCV000351307 RCV000892544 RCV005400701
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	SNV Germline	Chr6:42721913	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa Cone-rod dystrophy Autosomal recessive bestrophinopathy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Retinitis pigmentosa 7 Vitelliform macular dystrophy 3 Vitelliform macular dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA185988	rs_61755781	12 SubmittersRCV000084969 RCV001250306 RCV000161145 RCV001051727 RCV001074856 RCV001250316 RCV001723663 RCV001250317 RCV001353037 RCV005031577 RCV002508140
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)	SNV Germline	Chr6:42721866	Pathogenic/Likely pathogenic	Condition: not provided Pigmentary retinopathy Macular degeneration Abnormality of retinal pigmentation Blurred vision Retinal dystrophy PRPH2-related disorder Pigmentary retinal dystrophy Retinitis pigmentosa Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA226238	rs_61755787	7 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001378482 RCV001270171 RCV001250327 RCV001250326
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	SNV Germline	Chr6:42704555	Pathogenic/Likely pathogenic	Condition: not provided Patterned macular dystrophy 1 PRPH2-related disorder Retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA226277	rs_61755803	6 SubmittersRCV000085003 RCV001542667 RCV001052017 RCV001074371 RCV001250308
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	SNV Germline	Chr6:42704478	Pathogenic	Condition: not provided Stargardt disease PRPH2-related disorder Macular dystrophy Patterned dystrophy of the retinal pigment epithelium Choroidal dystrophy, central areolar 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226300	rs_61755814	9 SubmittersRCV000085015 RCV001250335 RCV001386136 RCV000787668 RCV001250336 RCV004760371 RCV004815035
NM_000322.5(PRPH2):c.828+3A>T	SNV Germline	Chr6:42704362	Pathogenic	Condition: not provided Retinitis pigmentosa Doyne honeycomb retinal dystrophy PRPH2-related disorder Retinal dystrophy Choroideremia Cone-rod dystrophy Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Stargardt disease Patterned macular dystrophy 1	Criteria Provided Multiple Submitters No Conflicts	CA226319	rs_281865373	10 SubmittersRCV000085026 RCV001250357 RCV001250358 RCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250346 RCV001250347 RCV001250344 RCV001542666
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)	SNV Germline	Chr6:42698470	Conflicting classifications of pathogenicity	Condition: not provided Retinitis pigmentosa Stargardt disease Retinal dystrophy PRPH2-related disorder Retinitis pigmentosa 7 Patterned macular dystrophy 1 Vitelliform macular dystrophy 3 Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy	Criteria Provided Conflicting Classifications	CA226322	rs_62645939	11 SubmittersRCV000085028 RCV001161271 RCV001250360 RCV004815038 RCV001438086 RCV005394359
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)	SNV Germline	Chr6:42698398	Conflicting classifications of pathogenicity	Condition: not provided Adult-onset foveomacular vitelliform dystrophy Cone-rod dystrophy Patterned macular dystrophy 1 Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy PRPH2-related disorder Stargardt disease Patterned dystrophy of the retinal pigment epithelium Retinitis pigmentosa Retinal dystrophy	Criteria Provided Conflicting Classifications	CA226331	rs_61748434	9 SubmittersRCV000085034 RCV000261808 RCV000406549 RCV000298015 RCV000301680 RCV000356624 RCV001066591 RCV001250365 RCV001250366 RCV000787872 RCV004815041
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	SNV Germline	Chr6:42722241	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease Vitelliform macular dystrophy 3 Retinal dystrophy PRPH2-related disorder not specified Optic atrophy Choroidal dystrophy, central areolar 2 Patterned macular dystrophy 1 Pigmentary retinal dystrophy Retinitis pigmentosa 7 Vitelliform macular dystrophy 3	Criteria Provided Conflicting Classifications	CA226333	rs_61755767	8 SubmittersRCV000085036 RCV001250380 RCV001352968 RCV003888461 RCV001462596 RCV001530276 RCV004815042 RCV005394360
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.1335C>G (p.Ser445Arg)	SNV Germline	Chr1:94078611	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA226886	rs_61748552	6 SubmittersRCV000085388 RCV000210294 RCV000504649 RCV005406817
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	SNV Germline	Chr1:94077833	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Retinal dystrophy Stargardt disease ABCA4-related disorder Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy not specified	Criteria Provided Conflicting Classifications	CA226892	rs_1800548	13 SubmittersRCV000085395 RCV000622340 RCV001074274 RCV001002844 RCV001102041 RCV001808322 RCV003128228 RCV003317086
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)	SNV Germline	Chr1:94063262	Conflicting classifications of pathogenicity	Condition: not provided Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA226906	rs_61752395	6 SubmittersRCV000085407 RCV000276834 RCV000315522 RCV000363019 RCV000369062 RCV001074421 RCV001100054
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	SNV Germline	Chr1:94111579	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA226908	rs_150774447	10 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079 RCV005031583
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	SNV Germline	Chr1:94063224	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226915	rs_61748558	12 SubmittersRCV000085413 RCV000778263 RCV000782281 RCV000763048 RCV000761253 RCV001074836 RCV004558302
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)	SNV Germline	Chr1:94062716	Pathogenic	Condition: not provided Stargardt disease 3	Criteria Provided Single Submitter	CA226929	rs_61752397	3 SubmittersRCV000085426 RCV004558303
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	SNV Germline	Chr1:94111561	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226931	rs_55732384	8 SubmittersRCV000085427 RCV000408452 RCV000763051 RCV001073359 RCV004558304
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	SNV Germline	Chr1:94062710	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa ABCA4-related disorder Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA226932	rs_61749409	23 SubmittersRCV000085428 RCV000504951 RCV000408597 RCV000850520 RCV001353025 RCV002250560 RCV001723664 RCV001849310 RCV002498452 RCV003324506 RCV004558305
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	SNV Germline	Chr1:94062695	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226936	rs_61749412	9 SubmittersRCV000085431 RCV000408475 RCV000787762 RCV001075859
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	SNV Germline	Chr1:94062587	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA201008	rs_61749417	9 SubmittersRCV000085445 RCV000174470 RCV000318324 RCV000260757 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279
NM_000350.3(ABCA4):c.1937+1G>A	SNV Germline	Chr1:94062576	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease 3 See cases Cone dystrophy and rod monochromatism Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226961	rs_61752401	12 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV005417459 RCV004815084
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr1:94060656	Pathogenic/Likely pathogenic	Condition: not provided Benign concentric annular macular dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Stargardt disease 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226973	rs_61749423	17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)	SNV Germline	Chr1:94111526	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease not specified Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA226983	rs_61751412	10 SubmittersRCV000085464 RCV000787776 RCV001000882 RCV001353042 RCV002466250 RCV004794358
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)	SNV Germline	Chr1:94056689	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA226988	rs_61749429	5 SubmittersRCV000085469 RCV001002839 RCV004724803
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	SNV Germline	Chr1:94055245	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227000	rs_61750202	6 SubmittersRCV000085479 RCV000787774 RCV001075477 RCV005252127
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)	SNV Germline	Chr1:94048921	Conflicting classifications of pathogenicity	Condition: not provided Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Age related macular degeneration 2 ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227022	rs_61749440	11 SubmittersRCV000085500 RCV000375069 RCV000260644 RCV000280747 RCV000315748 RCV001197697 RCV001096530 RCV004815090
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)	SNV Germline	Chr1:94048910	Conflicting classifications of pathogenicity	Condition: not provided Cone-rod dystrophy Stargardt disease ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227025	rs_61754030	10 SubmittersRCV000085502 RCV000787777 RCV002470763 RCV001101956
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)	SNV Germline	Chr1:94047010	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227037	rs_61749446	6 SubmittersRCV000085510 RCV001074959 RCV003330430 RCV004529885
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)	SNV Germline	Chr1:94046960	Conflicting classifications of pathogenicity	Condition: not provided Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt Disease, Recessive ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227045	rs_61754033	5 SubmittersRCV000085518 RCV000271906 RCV000287276 RCV000377007 RCV000322409 RCV001099949 RCV004815093
NM_000350.3(ABCA4):c.3050+5G>A	SNV Germline	Chr1:94044608	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227073	rs_61751262	6 SubmittersRCV000085541 RCV001002836 RCV001073618 RCV005025153
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	SNV Germline	Chr1:94043462	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa ABCA4-related disorder Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227078	rs_61749459	9 SubmittersRCV000085545 RCV000408496 RCV003324507 RCV004800282 RCV004529887 RCV004815097
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	SNV Germline	Chr1:94121014	Pathogenic/Likely pathogenic	Condition: not provided ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227106	rs_62645946	10 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV002247489 RCV001723665 RCV002051808 RCV003324509 RCV003324510 RCV005025156
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)	SNV Germline	Chr1:94042766	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227109	rs_61750121	7 SubmittersRCV000085570 RCV001073697 RCV004700403 RCV003992183
NM_000350.3(ABCA4):c.4253+4C>T	SNV Germline	Chr1:94030992	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227173	rs_61754044	10 SubmittersRCV000085619 RCV000624755 RCV001075880 RCV004562247 RCV005252753 RCV005417461
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)	SNV Germline	Chr1:94030497	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Macular degeneration Condition: not provided not specified Cone-Rod Dystrophy, Recessive Retinal dystrophy ABCA4-related disorder Stargardt Disease, Recessive	Criteria Provided Conflicting Classifications	CA202170	rs_1800549	9 SubmittersRCV000346856 RCV000408392 RCV000085624 RCV000176915 RCV000294305 RCV003888474 RCV001098065 RCV000307168
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)	SNV Germline	Chr1:94108591	Pathogenic/Likely pathogenic	Condition: not provided Age related macular degeneration 2 Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227179	rs_62646860	5 SubmittersRCV000085626 RCV001195926 RCV003330431
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	SNV Germline	Chr1:94030452	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227185	rs_61750142	14 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511 RCV005025157
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	SNV Germline	Chr1:94029548	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227190	rs_61752434	7 SubmittersRCV000085635 RCV001808324 RCV005055576
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	SNV Germline	Chr1:94029527	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Age related macular degeneration 2 Retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227192	rs_61750145	14 SubmittersRCV000085636 RCV000408536 RCV001002829 RCV001198562 RCV001074852 RCV002498456 RCV004732671
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	SNV Germline	Chr1:94029522	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Retinitis pigmentosa 19 ABCA4-related disorder Cone-rod dystrophy 3 Cone-rod dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227193	rs_61750146	15 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV005234981 RCV005417462 RCV005417463
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	SNV Germline	Chr1:94103130	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy not specified Stargardt disease ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA227215	rs_62646862	13 SubmittersRCV000085654 RCV000408574 RCV000402682 RCV000844929 RCV001100156 RCV004815114
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	SNV Germline	Chr1:94025011	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Inborn genetic diseases Stargardt disease Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227218	rs_61750152	16 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561 RCV005025160
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	SNV Germline	Chr1:94021934	Conflicting classifications of pathogenicity	Condition: not provided Cone-Rod Dystrophy, Recessive ABCA4-related disorder Retinitis Pigmentosa, Recessive Retinal dystrophy Stargardt disease Cone-rod dystrophy Cone-rod dystrophy 3 Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA227226	rs_1762111	19 SubmittersRCV000085664 RCV000335992 RCV000314956 RCV000407014 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	SNV Germline	Chr1:94021695	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy Autosomal recessive retinitis pigmentosa Retinitis pigmentosa 19 Retinitis pigmentosa Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227239	rs_61750155	20 SubmittersRCV000085674 RCV000408465 RCV001002825 RCV001074177 RCV001257846 RCV001808326 RCV003387758 RCV005025163 RCV005417464 RCV004732673
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	SNV Germline	Chr1:94021340	Pathogenic/Likely pathogenic; other	Condition: not provided Retinal dystrophy Leber congenital amaurosis Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Cone-rod dystrophy 3 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227253	rs_61751404	21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	SNV Germline	Chr1:94021339	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227254	rs_61751403	17 SubmittersRCV000085684 RCV000321118 RCV000504816 RCV000787505 RCV003223338 RCV005031587
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	SNV Germline	Chr1:94019701	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA227271	rs_61750563	10 SubmittersRCV000085696 RCV001073371 RCV002255285 RCV002470765 RCV004528785
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	SNV Germline	Chr1:94103071	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Conflicting Classifications	CA227276	rs_61748532	13 SubmittersRCV000085700 RCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV005364981 RCV005031588
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	SNV Germline	Chr1:94014687	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Retinal dystrophy Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227298	rs_61750571	8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001352958 RCV001723668 RCV004529892
NM_000350.3(ABCA4):c.5460+1G>A	SNV Germline	Chr1:94014542	Pathogenic	Condition: not provided Retinitis pigmentosa Stargardt disease Autosomal recessive retinitis pigmentosa Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227308	rs_61753030	6 SubmittersRCV000085729 RCV000791319 RCV001002813 RCV001257848 RCV004815123
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)	SNV Germline	Chr1:94011319	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227316	rs_62642576	7 SubmittersRCV000085736 RCV004815124 RCV004562248 RCV005406820
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)	SNV Germline	Chr1:94011309	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 3 Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227317	rs_61750575	5 SubmittersRCV000085737 RCV003152681 RCV004689603 RCV005025166
NM_000350.3(ABCA4):c.5584+6T>C	SNV Germline	Chr1:94011256	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227320	rs_61750633	6 SubmittersRCV000085739 RCV000678512 RCV000787512 RCV004815125
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	SNV Germline	Chr1:94010911	Conflicting classifications of pathogenicity	Condition: not provided not specified Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Stargardt disease Age related macular degeneration 2 Cone-rod dystrophy 3 Retinitis pigmentosa Retinal dystrophy ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA202869	rs_1801466	19 SubmittersRCV000085744 RCV000178424 RCV000293913 RCV000309306 RCV000391356 RCV000348932 RCV000721173 RCV001097975 RCV001002812 RCV001197336 RCV001262623 RCV001723669 RCV004815126 RCV005357537
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	SNV Germline	Chr1:94010821	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Inborn genetic diseases Stargardt disease Retinal dystrophy ABCA4-related disorder Retinitis pigmentosa Age related macular degeneration 2 Cone-rod dystrophy 3	Criteria Provided Conflicting Classifications	CA227333	rs_1800552	19 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV001075015 RCV000778998 RCV000787764 RCV001196150 RCV002470766
NM_000350.3(ABCA4):c.5714+5G>A	SNV Germline	Chr1:94010795	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Stargardt disease Cone-rod dystrophy Stargardt disease ABCA4-related disorder Retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Optic atrophy Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227338	rs_61751407	33 SubmittersRCV000085757 RCV000210303 RCV000210321 RCV000332324 RCV000515694 RCV000845081 RCV000778997 RCV001074898 RCV001196124 RCV002498458 RCV004815127 RCV005357538
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	SNV Germline	Chr1:94008290	Conflicting classifications of pathogenicity	Condition: not provided not specified Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive ABCA4-related disorder Age related macular degeneration 2 Retinal dystrophy Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA285822	rs_56142141	9 SubmittersRCV000085768 RCV000211880 RCV000284620 RCV000339604 RCV000375640 RCV000379050 RCV001096228 RCV001195781 RCV003888479 RCV004562249
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	SNV Germline	Chr1:94007710	Pathogenic/Likely pathogenic	Condition: not provided Retinitis pigmentosa Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA227357	rs_61750639	11 SubmittersRCV000085778 RCV001002809 RCV001075771 RCV005055577 RCV005234984
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)	SNV Germline	Chr1:94005484	Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA227367	rs_61750642	4 SubmittersRCV000085788 RCV003324514
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	SNV Germline	Chr1:94005470	Pathogenic	Condition: not provided Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Retinal dystrophy Severe early-childhood-onset retinal dystrophy ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227369	rs_61753038	10 SubmittersRCV000085790 RCV000787772 RCV000763435 RCV001073783 RCV002283455 RCV004732675
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	SNV Germline	Chr1:94001911	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA227380	rs_61750645	14 SubmittersRCV000085797 RCV000504630 RCV000787519 RCV001004998 RCV001770079 RCV005357540
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)	SNV Germline	Chr1:94001102	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA227386	rs_61750646	6 SubmittersRCV000085804 RCV004800285
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	SNV Germline	Chr1:94001072	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinal dystrophy Stargardt disease ABCA4-related retinopathy Age related macular degeneration 2 Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA227388	rs_61750648	12 SubmittersRCV000085806 RCV000408484 RCV001075529 RCV004017397 RCV005357541 RCV004783742 RCV005417958
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	SNV Germline	Chr1:94001068	Conflicting classifications of pathogenicity	Condition: not provided Severe early-childhood-onset retinal dystrophy Macular dystrophy Retinal dystrophy ABCA4-related disorder Stargardt disease Retinitis pigmentosa 19 Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Optic atrophy Retinitis pigmentosa 19	Criteria Provided Conflicting Classifications	CA227389	rs_62642564	22 SubmittersRCV000085807 RCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV005025167 RCV004815130 RCV005252116
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)	SNV Germline	Chr1:94098927	Conflicting classifications of pathogenicity	Condition: not provided Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration ABCA4-related disorder not specified Retinitis Pigmentosa, Recessive Retinal dystrophy	Criteria Provided Conflicting Classifications	CA203214	rs_6657239	11 SubmittersRCV000085814 RCV000369853 RCV000315191 RCV000369400 RCV001098368 RCV000179292 RCV000269487 RCV003888483
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	SNV Germline	Chr1:94000924	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227401	rs_61750652	5 SubmittersRCV000085817 RCV001074273 RCV004526616 RCV005031590
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	SNV Germline	Chr1:93998027	Pathogenic	Condition: not provided Stargardt disease Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2	Criteria Provided Multiple Submitters No Conflicts	CA227415	rs_61750658	4 SubmittersRCV000085829 RCV001002806 RCV005025168
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	SNV Germline	Chr1:93997869	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA227439	rs_61748521	7 SubmittersRCV000085848 RCV001075235 RCV003324515 RCV004786366
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	SNV Germline	Chr1:94098794	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Age related macular degeneration 2 Macular dystrophy Retinitis pigmentosa Retinal dystrophy Cone-rod dystrophy 3 Stargardt disease ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA227458	rs_62645944	18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV003993802 RCV004529896
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)	SNV Germline	Chr1:94042804	Conflicting classifications of pathogenicity	not specified Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Condition: not provided Stargardt Disease, Recessive Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA289216	rs_570745701	5 SubmittersRCV000123437 RCV000291533 RCV000332468 RCV000382403 RCV001494980 RCV000277374 RCV001075760 RCV001098162
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)	SNV Germline	Chr1:94037199	Conflicting classifications of pathogenicity	not specified Cone-Rod Dystrophy, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Condition: not provided ABCA4-related disorder Stargardt Disease, Recessive	Criteria Provided Conflicting Classifications	CA289219	rs_147884766	6 SubmittersRCV000123439 RCV000310721 RCV000266131 RCV000365294 RCV000726042 RCV001101850 RCV000406941
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)	SNV Germline	Chr6:79921662	Pathogenic	Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 34 Stargardt disease 3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ELOVL4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA170078	rs_587777598	3 SubmittersRCV000132563 RCV002483274 RCV003479020
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)	SNV Germline	Chr6:42721836	Pathogenic/Likely pathogenic	Retinitis pigmentosa Condition: not provided PRPH2-related disorder Retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA270015	rs_527236098	11 SubmittersRCV000132579 RCV000438661 RCV001055454 RCV001073378 RCV001250331
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)	SNV Germline	Chr11:61958282	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease Vitelliform macular dystrophy 2 BEST1-related disorder	Criteria Provided Conflicting Classifications	CA233532	rs_727503824	6 SubmittersRCV000723944 RCV001270355 RCV001262506 RCV004732711
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	SNV Germline	Chr1:94021848	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Cone dystrophy Retinal dystrophy Optic atrophy ABCA4-related retinopathy	Criteria Provided Conflicting Classifications	CA233403	rs_113106943	11 SubmittersRCV000285181 RCV000416254 RCV000408525 RCV000323858 RCV000376503 RCV000381856 RCV000504993 RCV001073617 RCV004815221 RCV005359324
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)	SNV Germline	Chr4:16000577	Conflicting classifications of pathogenicity	not specified Retinal macular dystrophy type 2 Retinitis pigmentosa Stargardt disease 4 Cone-rod dystrophy 12 Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA180342	rs_113895168	8 SubmittersRCV000153771 RCV001144801 RCV001150902 RCV001150903 RCV001150904 RCV004815231 RCV000757689
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	SNV Germline	Chr4:16025218	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease 4 Retinitis pigmentosa Stargardt disease 4 Retinitis pigmentosa 41 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinal dystrophy Retinal macular dystrophy type 2 Retinitis pigmentosa 41 Autosomal recessive retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA236211	rs_140872693	10 SubmittersRCV000171375 RCV000356757 RCV000390528 RCV000765766 RCV004815269 RCV000348573 RCV000987426 RCV001257791
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	SNV Germline	Chr4:16006647	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinitis pigmentosa 41 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 PROM1-related disorder Condition: not provided Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA239871	rs_200620291	7 SubmittersRCV001147666 RCV001535742 RCV001147668 RCV001151003 RCV004539610 RCV000724359 RCV001147667
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)	SNV Germline	Chr6:42704468	Conflicting classifications of pathogenicity	Condition: not provided Usher syndrome Stargardt disease PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA241332	rs_542296728	6 SubmittersRCV000175581 RCV003389460 RCV001250337 RCV001463523
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	SNV Germline	Chr1:94014685	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA957302	rs_760549861	16 SubmittersRCV000408555 RCV000441041 RCV000826133 RCV001074401 RCV002485455 RCV005252827 RCV004732802
NM_000350.3(ABCA4):c.5312+1G>A	SNV Germline	Chr1:94015738	Pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Age related macular degeneration 2 Cone-rod dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA10602420	rs_886044750	6 SubmittersRCV000408509 RCV001073541 RCV001383600 RCV001196916 RCV002267732 RCV005418025
NM_000350.3(ABCA4):c.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.4979C>T (p.Pro1660Leu)	SNV Germline	Chr1:94021279	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Stargardt disease Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602425	rs_886044746	4 SubmittersRCV000408473 RCV001002822 RCV005090154 RCV004816416
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	SNV Germline	Chr1:94021880	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy Stargardt disease	Criteria Provided Conflicting Classifications	CA957495	rs_777415466	8 SubmittersRCV000408448 RCV000761665 RCV004816415 RCV005418024
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	SNV Germline	Chr1:94029465	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Stargardt disease Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 ABCA4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA957590	rs_568792949	10 SubmittersRCV000408586 RCV001074181 RCV001380976 RCV003401161 RCV005031808 RCV004732801
NM_000350.3(ABCA4):c.4352+1G>A	SNV Germline	Chr1:94030427	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957648	rs_200967229	6 SubmittersRCV000408571 RCV001854784 RCV005418023 RCV003888652
NM_000350.3(ABCA4):c.4253+5G>A	SNV Germline	Chr1:94030991	Pathogenic/Likely pathogenic	Stargardt disease Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA10602432	rs_61750138	8 SubmittersRCV000515660 RCV000504972 RCV000408462 RCV001854783 RCV004526649 RCV005025376
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	SNV Germline	Chr1:94041249	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Autosomal recessive retinitis pigmentosa Stargardt disease Retinal dystrophy Cone-rod dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA957928	rs_768278935	7 SubmittersRCV000408467 RCV000761669 RCV001257844 RCV003330593 RCV004816402 RCV002267731 RCV005025375
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	SNV Germline	Chr1:94046943	Pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinitis pigmentosa Cone-rod dystrophy Macular dystrophy Stargardt disease Retinal dystrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 3 Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA958124	rs_201471607	13 SubmittersRCV000408500 RCV000413621 RCV000787770 RCV000787491 RCV000787492 RCV000787490 RCV001074886 RCV004796120 RCV004558582 RCV005252130
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)	SNV Germline	Chr1:94046962	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Condition: not provided Severe early-childhood-onset retinal dystrophy Macular degeneration Stargardt Disease, Recessive Retinal dystrophy Optic atrophy Age related macular degeneration 2 Severe early-childhood-onset retinal dystrophy Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease	Criteria Provided Conflicting Classifications	CA958130	rs_368846708	6 SubmittersRCV000278622 RCV000323631 RCV000425865 RCV000408538 RCV000338922 RCV000373695 RCV004816396 RCV004816397 RCV005025374 RCV005418022
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)	SNV Germline	Chr1:94051677	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Condition: not provided Retinal dystrophy ABCA4-related disorder Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA958220	rs_746566873	6 SubmittersRCV000408530 RCV000490201 RCV001074708 RCV004532828 RCV005406968
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)	SNV Germline	Chr1:94063153	Likely pathogenic	Severe early-childhood-onset retinal dystrophy Stargardt disease Retinal dystrophy	Criteria Provided Single Submitter	CA10602447	rs_886044728	2 SubmittersRCV000408573 RCV000787483 RCV004816391
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	SNV Germline	Chr1:94063180	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Severe early-childhood-onset retinal dystrophy ABCA4-related disorder Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA958456	rs_143263315	6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001100049 RCV001441278 RCV003258709 RCV004816390
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	SNV Germline	Chr1:94063258	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Condition: not provided ABCA4-related disorder Retinal dystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA958466	rs_201602424	6 SubmittersRCV000408457 RCV000312006 RCV000298675 RCV000337235 RCV000391529 RCV001522285 RCV001100053 RCV003888651 RCV004020725
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)	SNV Germline	Chr1:94108702	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive ABCA4-related disorder Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA958865	rs_201150919	6 SubmittersRCV000283229 RCV000400700 RCV000347578 RCV000377526 RCV001100157 RCV001520655 RCV003888650
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)	SNV Germline	Chr4:15998435	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Retinitis pigmentosa 41 Cone-rod dystrophy 12 Stargardt disease 4 Retinal macular dystrophy type 2	Criteria Provided Conflicting Classifications	CA2866701	rs_753308387	7 SubmittersRCV000225631 RCV000488414 RCV000765765
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)	SNV Germline	Chr4:16009093	Pathogenic	Cone-rod dystrophy 12 Condition: not provided Stargardt disease 4 Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10586321	rs_886037880	4 SubmittersRCV000240342 RCV001390399 RCV002247690 RCV002267733
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	SNV Germline	Chr1:94077712	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Retinal dystrophy ABCA4-related disorder Macular degeneration Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA958501	rs_140482171	11 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV001073584 RCV001102037 RCV000385092 RCV000505101 RCV000512657 RCV000844930
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)	SNV Germline	Chr4:15991277	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinitis pigmentosa Condition: not provided Cone-rod dystrophy 12 Retinal macular dystrophy type 2 PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866581	rs_62617075	6 SubmittersRCV000297319 RCV000303280 RCV000356389 RCV000342856 RCV000390893 RCV004734935
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)	SNV Germline	Chr1:94078603	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Stargardt disease Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA958570	rs_777078540	6 SubmittersRCV000388365 RCV004816512 RCV004586668 RCV005025431
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	SNV Germline	Chr1:94060674	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA958364	rs_575453437	8 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV005025432 RCV004558613
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	SNV Germline	Chr1:94043470	Pathogenic/Likely pathogenic	Retinal dystrophy Severe early-childhood-onset retinal dystrophy Condition: not provided Stargardt disease Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinitis pigmentosa 19	Criteria Provided Multiple Submitters No Conflicts	CA958052	rs_201855602	11 SubmittersRCV001074386 RCV004558614 RCV000412846 RCV001002835 RCV005025438 RCV005252863
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)	SNV Germline	Chr4:16018457	Conflicting classifications of pathogenicity	Retinitis pigmentosa not specified Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Condition: not provided Retinal dystrophy PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866931	rs_182096110	5 SubmittersRCV000303463 RCV000313919 RCV000361771 RCV000365161 RCV000400435 RCV000950665 RCV003888691 RCV004535428
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)	SNV Germline	Chr4:15985769	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinitis pigmentosa Condition: not provided Cone-rod dystrophy 12 Retinal macular dystrophy type 2	Criteria Provided Conflicting Classifications	CA2866459	rs_375986111	3 SubmittersRCV000288468 RCV000352868 RCV000386501 RCV000390492 RCV000401506
NM_000350.3(ABCA4):c.*136G>A	SNV Germline	Chr1:93993101	Conflicting classifications of pathogenicity	Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10610441	rs_55665437	2 SubmittersRCV000310088 RCV000348599 RCV000393813 RCV000403289 RCV001096131 RCV001672414
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)	SNV Germline	Chr1:94001048	Conflicting classifications of pathogenicity	Macular degeneration Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Condition: not provided ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA956899	rs_202127235	5 SubmittersRCV000294673 RCV000315923 RCV000349548 RCV000389153 RCV001424033 RCV001099679 RCV003888704
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)	SNV Germline	Chr1:94021333	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive Condition: not provided ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957429	rs_114518437	4 SubmittersRCV000301076 RCV000340669 RCV000353628 RCV000393458 RCV000486564 RCV001101750 RCV001075649
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)	SNV Germline	Chr1:94025010	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Condition: not provided ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA957556	rs_138831474	3 SubmittersRCV000310399 RCV000350024 RCV000362798 RCV000406989 RCV000488110 RCV001096332
NM_000350.3(ABCA4):c.3607+13C>T	SNV Germline	Chr1:94040030	Conflicting classifications of pathogenicity	Macular degeneration Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA957886	rs_374630957	2 SubmittersRCV000289560 RCV000293111 RCV000352695 RCV000388512 RCV001101856 RCV002059507
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)	SNV Germline	Chr1:94042883	Conflicting classifications of pathogenicity	Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA958009	rs_775661924	2 SubmittersRCV000283211 RCV000342791 RCV000346419 RCV000377692 RCV001098163 RCV003718155
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)	SNV Germline	Chr1:94055181	Conflicting classifications of pathogenicity	Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive ABCA4-related disorder Stargardt Disease, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA958253	rs_138246242	2 SubmittersRCV000289234 RCV000346485 RCV000401706 RCV001096534 RCV000401493 RCV001472118
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)	SNV Germline	Chr1:94083419	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Condition: not provided Inborn genetic diseases Retinal dystrophy	Criteria Provided Conflicting Classifications	CA958722	rs_567985213	4 SubmittersRCV000286376 RCV000334279 RCV000393402 RCV000402094 RCV001241582 RCV002522135 RCV003888708
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)	SNV Germline	Chr1:94014597	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA957287	rs_202199507	3 SubmittersRCV000262810 RCV000302869 RCV000355388 RCV000403051 RCV001099764 RCV002059506
NM_000350.3(ABCA4):c.4848+13T>C	SNV Germline	Chr1:94021627	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA957455	rs_374196141	3 SubmittersRCV000273593 RCV000314153 RCV000371133 RCV000404481 RCV001101751 RCV001413399
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)	SNV Germline	Chr1:94030524	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive not specified Retinal dystrophy ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA957663	rs_142673376	5 SubmittersRCV000306201 RCV000345844 RCV000358611 RCV000408394 RCV000603618 RCV001074568 RCV001098066 RCV001515591
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)	SNV Germline	Chr1:94031055	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration ABCA4-related disorder Stargardt Disease, Recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA957691	rs_763857670	2 SubmittersRCV000284073 RCV000342444 RCV000400653 RCV001098070 RCV000285098 RCV002520512
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)	SNV Germline	Chr1:94036771	Conflicting classifications of pathogenicity	Macular degeneration Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Condition: not provided ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA957811	rs_75092434	3 SubmittersRCV000314607 RCV000349406 RCV000369258 RCV000406947 RCV000882442 RCV001099865
NM_000350.3(ABCA4):c.2744-5C>T	SNV Germline	Chr1:94047098	Conflicting classifications of pathogenicity	Macular degeneration Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Condition: not provided ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958166	rs_76305791	2 SubmittersRCV000263987 RCV000323753 RCV000358873 RCV000360065 RCV000897416 RCV001101953
NM_000350.3(ABCA4):c.*299G>C	SNV Germline	Chr1:93992938	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA10611611	rs_538804441	1 SubmittersRCV000261694 RCV000283953 RCV000319142 RCV000376091 RCV001096126
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)	SNV Germline	Chr1:94000899	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Condition: not provided ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA10611614	rs_761867791	2 SubmittersRCV000374572 RCV000280073 RCV000319805 RCV000264727 RCV001380600 RCV001099678
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)	SNV Germline	Chr1:94010802	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Condition: not provided ABCA4-related disorder Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957176	rs_191506332	5 SubmittersRCV000266769 RCV000269853 RCV000306349 RCV000361052 RCV000922637 RCV001096232 RCV003888705
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)	SNV Germline	Chr1:94025015	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA957557	rs_774957381	2 SubmittersRCV000264287 RCV000270263 RCV000304270 RCV000361271 RCV001096333 RCV001466055
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)	SNV Germline	Chr1:94040103	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Stargardt Disease, Recessive Macular degeneration Condition: not provided Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA957897	rs_75267647	5 SubmittersRCV000261992 RCV000297212 RCV000331144 RCV000356767 RCV000894101 RCV001073731 RCV001096426
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)	SNV Germline	Chr1:94043463	Conflicting classifications of pathogenicity	Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10611639	rs_886046565	2 SubmittersRCV000298413 RCV000334643 RCV000392686 RCV000399846 RCV001098167 RCV002520514
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)	SNV Germline	Chr1:94078627	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Retinal dystrophy Condition: not provided ABCA4-related disorder Cone-Rod Dystrophy, Recessive Cone-rod dystrophy 3 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA958572	rs_770439859	5 SubmittersRCV000330893 RCV000295678 RCV000343633 RCV004816525 RCV000523526 RCV001102042 RCV000387710 RCV005429014
NM_000350.3(ABCA4):c.1240-8G>C	SNV Germline	Chr1:94078714	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Macular degeneration Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Condition: not provided ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958582	rs_185225547	3 SubmittersRCV000262287 RCV000319666 RCV000354740 RCV000367371 RCV000971845 RCV001096638
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)	SNV Germline	Chr1:94103117	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Condition: not provided ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958825	rs_148091207	3 SubmittersRCV000262244 RCV000275189 RCV000330288 RCV000375450 RCV000902561 RCV001100154
NM_000350.3(ABCA4):c.5197-4C>T	SNV Germline	Chr1:94015858	Conflicting classifications of pathogenicity	Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Macular degeneration Stargardt Disease, Recessive ABCA4-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA957349	rs_758825834	2 SubmittersRCV000275813 RCV000315617 RCV000330641 RCV000354180 RCV001099768 RCV001850573
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)	SNV Germline	Chr1:94029452	Conflicting classifications of pathogenicity	Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive ABCA4-related disorder Macular degeneration Condition: not provided	Criteria Provided Conflicting Classifications	CA10611712	rs_886046564	2 SubmittersRCV000374011 RCV000263027 RCV000315841 RCV001096335 RCV000321629 RCV002520511
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)	SNV Germline	Chr1:94031856	Conflicting classifications of pathogenicity	Macular degeneration Stargardt Disease, Recessive Retinitis Pigmentosa, Recessive Cone-Rod Dystrophy, Recessive Condition: not provided ABCA4-related disorder not specified	Criteria Provided Conflicting Classifications	CA957737	rs_141004967	7 SubmittersRCV000297155 RCV000354394 RCV000337011 RCV000392768 RCV000909683 RCV001099859 RCV001699431
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)	SNV Germline	Chr1:94079406	Conflicting classifications of pathogenicity	Macular degeneration Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Condition: not provided Retinal dystrophy ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA958623	rs_376624031	5 SubmittersRCV000292103 RCV000326953 RCV000339971 RCV000383912 RCV000907632 RCV001075141 RCV004537688
NM_000350.3(ABCA4):c.741C>T (p.Asn247=)	SNV Germline	Chr1:94098821	Conflicting classifications of pathogenicity	Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration ABCA4-related disorder Condition: not provided Late-onset cone-rod dystrophy Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA958756	rs_372976742	4 SubmittersRCV000299375 RCV000312349 RCV000337928 RCV000401167 RCV001098365 RCV002059509 RCV005418066 RCV005418065
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)	SNV Germline	Chr4:15984327	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa Retinal macular dystrophy type 2 Condition: not provided PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866427	rs_568361529	3 SubmittersRCV000308984 RCV000314748 RCV000363627 RCV000393001 RCV001518533 RCV004544649
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)	SNV Germline	Chr4:16000583	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2866747	rs_200520976	2 SubmittersRCV000291776 RCV000344405 RCV000383774 RCV000400713 RCV001510571
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)	SNV Germline	Chr4:16009032	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinitis pigmentosa Stargardt disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10617341	rs_886059203	2 SubmittersRCV000295982 RCV000388013 RCV000394593 RCV000348661 RCV001504867
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)	SNV Germline	Chr4:16023379	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinal macular dystrophy type 2 Retinitis pigmentosa Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866970	rs_369815021	3 SubmittersRCV000308028 RCV000347822 RCV000369682 RCV000398824 RCV001300200 RCV003888826
NM_006017.3(PROM1):c.*1052G>A	SNV Germline	Chr4:15968341	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10618184	rs_577484119	1 SubmittersRCV000271338 RCV000306689 RCV000328709 RCV000363732
NM_006017.3(PROM1):c.*684C>T	SNV Germline	Chr4:15968709	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA10618194	rs_140362696	1 SubmittersRCV000278098 RCV000281713 RCV000316805 RCV000373870
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)	SNV Germline	Chr4:15979426	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinal macular dystrophy type 2 Retinitis pigmentosa Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866323	rs_201910962	3 SubmittersRCV000274437 RCV000296764 RCV000331908 RCV000388672 RCV001301011 RCV003888822
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)	SNV Germline	Chr4:15984352	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Stargardt disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866434	rs_202029748	4 SubmittersRCV000274073 RCV000319916 RCV000355970 RCV000368747 RCV000839749
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)	SNV Germline	Chr4:16006615	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2866789	rs_779072238	2 SubmittersRCV000295344 RCV000312842 RCV000352517 RCV000401437 RCV001861230
NM_006017.3(PROM1):c.2211+7C>T	SNV Germline	Chr4:15985950	Conflicting classifications of pathogenicity	Retinitis pigmentosa Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866473	rs_372262346	2 SubmittersRCV000300221 RCV000312096 RCV000366791 RCV000391793 RCV001455863
NM_006017.3(PROM1):c.1683-3C>T	SNV Germline	Chr4:15994074	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Stargardt disease 4 Retinitis pigmentosa Retinal macular dystrophy type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866675	rs_143470288	2 SubmittersRCV000302494 RCV000308385 RCV000348076 RCV000398666 RCV000886518
NM_006017.3(PROM1):c.1579-6T>C	SNV Germline	Chr4:15998494	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Retinitis pigmentosa Stargardt disease 4 Cone-rod dystrophy 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866715	rs_181261277	4 SubmittersRCV000277946 RCV000314370 RCV000363164 RCV000369060 RCV000956181
NM_006017.3(PROM1):c.1578+9G>C	SNV Germline	Chr4:16000487	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Retinitis pigmentosa Stargardt disease 4 Cone-rod dystrophy 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866728	rs_747638667	2 SubmittersRCV000261455 RCV000262727 RCV000320164 RCV000353950 RCV002057918
NM_006017.3(PROM1):c.843C>T (p.His281=)	SNV Germline	Chr4:16018482	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866936	rs_374394451	2 SubmittersRCV000273099 RCV000276686 RCV000307126 RCV000364245 RCV002057920
NM_006017.3(PROM1):c.277-15C>T	SNV Germline	Chr4:16035776	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2867123	rs_372599685	2 SubmittersRCV000289511 RCV000332880 RCV000381583 RCV000389815 RCV002057921
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)	SNV Germline	Chr4:16075726	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Condition: not provided Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa 41	Criteria Provided Conflicting Classifications	CA2867174	rs_201701647	4 SubmittersRCV000273204 RCV000308324 RCV000363045 RCV000400360 RCV001439949 RCV005398476
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)	SNV Germline	Chr4:15979399	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2866319	rs_747844753	3 SubmittersRCV000261335 RCV000318837 RCV000353914 RCV000375741 RCV001861228 RCV004955454
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	SNV Germline	Chr4:15984272	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Cone-rod dystrophy 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866416	rs_551849678	2 SubmittersRCV000283949 RCV000339031 RCV000399383 RCV000399730 RCV001442000
NM_006017.3(PROM1):c.1911+14G>A	SNV Germline	Chr4:15992234	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2866604	rs_79077926	2 SubmittersRCV000272696 RCV000309053 RCV000357535 RCV000363702 RCV001513432
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)	SNV Germline	Chr4:16000498	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinal macular dystrophy type 2 Stargardt disease 4 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866732	rs_201870277	5 SubmittersRCV000283728 RCV000322364 RCV000323535 RCV000594499 RCV003888823
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)	SNV Germline	Chr4:16006648	Conflicting classifications of pathogenicity	Retinitis pigmentosa Cone-rod dystrophy 12 Stargardt disease 4 Retinal macular dystrophy type 2 Condition: not provided Retinal dystrophy PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866795	rs_147174580	5 SubmittersRCV000297263 RCV000354443 RCV000355570 RCV000407818 RCV000998227 RCV003888824 RCV004530407
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	SNV Germline	Chr4:16018362	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinitis pigmentosa Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866910	rs_202041422	4 SubmittersRCV000282344 RCV000304480 RCV000335053 RCV000399717 RCV002057919 RCV003888825 RCV004530408
NM_006017.3(PROM1):c.792G>A (p.Lys264=)	SNV Germline	Chr4:16018533	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa Retinal macular dystrophy type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866947	rs_776605111	2 SubmittersRCV000274554 RCV000317930 RCV000334145 RCV000386341 RCV003766007
NM_006017.3(PROM1):c.717C>T (p.Gly239=)	SNV Germline	Chr4:16023393	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Retinitis pigmentosa Cone-rod dystrophy 12 Stargardt disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866976	rs_763697898	2 SubmittersRCV000266664 RCV000315947 RCV000324190 RCV000372846 RCV001454692
NM_006017.3(PROM1):c.678G>A (p.Ala226=)	SNV Germline	Chr4:16024311	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2867001	rs_187116049	3 SubmittersRCV000283971 RCV000345958 RCV000384160 RCV000376482 RCV000912093 RCV003888827
NM_006017.3(PROM1):c.276+15G>T	SNV Germline	Chr4:16038931	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA2867130	rs_766012920	1 SubmittersRCV000278099 RCV000295776 RCV000350668 RCV000394477
NM_006017.3(PROM1):c.-25T>A	SNV Germline	Chr4:16075931	Conflicting classifications of pathogenicity	Stargardt disease 4 Retinal macular dystrophy type 2 Retinitis pigmentosa Cone-rod dystrophy 12	Criteria Provided Conflicting Classifications	CA2867210	rs_149845694	1 SubmittersRCV000259686 RCV000313534 RCV000319521 RCV000354399
NM_022726.4(ELOVL4):c.502T>C (p.Leu168=)	SNV Germline	Chr6:79921664	Conflicting classifications of pathogenicity	Stargardt disease 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA10627695	rs_886061802	3 SubmittersRCV000356888 RCV000762423
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)	SNV Germline	Chr6:79924970	Conflicting classifications of pathogenicity	Stargardt disease 3 Condition: not provided Spinocerebellar ataxia type 34 Stargardt disease 3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Inborn genetic diseases ELOVL4-related disorder	Criteria Provided Conflicting Classifications	CA3901551	rs_148018494	7 SubmittersRCV000262008 RCV000595647 RCV000765894 RCV002524509 RCV004737455
NM_000350.3(ABCA4):c.5898+1G>A	SNV Germline	Chr1:94008234	Pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA16603700	rs_61750638	5 SubmittersRCV000438611 RCV001075185 RCV005055959 RCV001723980
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)	SNV Germline	Chr4:16009051	Conflicting classifications of pathogenicity	Condition: not provided Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinitis pigmentosa Stargardt disease 4	Criteria Provided Conflicting Classifications	CA2866836	rs_140682455	3 SubmittersRCV000431346 RCV001147773 RCV001147772 RCV001147774 RCV001151114
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)	SNV Germline	Chr1:94030454	Pathogenic	Condition: not provided Retinal dystrophy Stargardt disease Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA957653	rs_762150575	5 SubmittersRCV000480271 RCV001073593 RCV000787780 RCV005239062
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)	SNV Germline	Chr6:42704445	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16618285	rs_1064793931	4 SubmittersRCV000479139 RCV001250338 RCV002525801
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)	SNV Germline	Chr6:42721910	Conflicting classifications of pathogenicity	Condition: not provided PRPH2-related disorder Stargardt disease	Criteria Provided Conflicting Classifications	CA3808615	rs_554945964	4 SubmittersRCV000486555 RCV001302351 RCV001250321
NM_000350.3(ABCA4):c.6816+2T>A	SNV Germline	Chr1:93996107	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16621567	rs_112005636	3 SubmittersRCV000487635 RCV001199629 RCV004816698
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	SNV Germline	Chr4:15991259	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa 41 Cone-rod dystrophy Cone-rod dystrophy 12 Retinitis pigmentosa 41 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866577	rs_761911901	10 SubmittersRCV000487979 RCV000765764 RCV001199723 RCV003236583 RCV003338612 RCV004816708
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)	SNV Germline	Chr6:42704540	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease PRPH2-related disorder Isolated macular dystrophy	Criteria Provided Conflicting Classifications	CA16621838	rs_986748364	3 SubmittersRCV000487688 RCV001199524 RCV002526003 RCV001199528
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)	SNV Germline	Chr1:94014676	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341281507	rs_1553187939	3 SubmittersRCV000497807 RCV003324528
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)	SNV Germline	Chr6:79921654	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 34 Condition: not provided Spinocerebellar ataxia type 34 Stargardt disease 3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA364656490	rs_1554162301	4 SubmittersRCV000504460 RCV001662494 RCV005034041
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)	SNV Germline	Chr1:94005490	Pathogenic	Retinal dystrophy Stargardt disease Condition: not provided	Criteria Provided Single Submitter	CA341278996	rs_1553186896	3 SubmittersRCV000504619 RCV000787518 RCV003558424
NM_000350.3(ABCA4):c.5196+1137G>A	SNV Germline	Chr1:94018445	Pathogenic/Likely pathogenic	Severe early-childhood-onset retinal dystrophy Retinal dystrophy Macular dystrophy Stargardt disease Retinitis pigmentosa 19 Condition: not provided Cone-rod dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA26843511	rs_778234759	13 SubmittersRCV000504847 RCV000504651 RCV000787507 RCV000787508 RCV001542560 RCV001388591 RCV003324531
NM_006017.3(PROM1):c.1002+5G>A	SNV Germline	Chr4:16018318	Conflicting classifications of pathogenicity	Retinal dystrophy Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Cone-rod dystrophy	Criteria Provided Conflicting Classifications	CA550187763	rs_1196489060	3 SubmittersRCV000505134 RCV001145013 RCV001145014 RCV001146960 RCV001145015 RCV005418178
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	SNV Germline	Chr6:42704570	Conflicting classifications of pathogenicity	Macular dystrophy Stargardt disease Condition: not provided Patterned macular dystrophy 1 Retinal dystrophy PRPH2-related disorder Choroidal dystrophy, central areolar 2 Pigmentary retinal dystrophy	Criteria Provided Conflicting Classifications	CA3808568	rs_139185976	11 SubmittersRCV000504827 RCV001250285 RCV001530240 RCV000787665 RCV001074827 RCV001051123 RCV004787813 RCV002248741
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)	SNV Germline	Chr1:94037350	Conflicting classifications of pathogenicity	Condition: not provided Age related macular degeneration 2 ABCA4-related disorder Cone-rod dystrophy Retinitis pigmentosa 19 Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy not specified Stargardt disease ABCA4-related retinopathy Retinal dystrophy	Criteria Provided Conflicting Classifications	CA957869	rs_146786552	15 SubmittersRCV000597651 RCV001195780 RCV001101855 RCV002267738 RCV002289889 RCV002497243 RCV003235303 RCV004594081 RCV005367445 RCV004817792
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)	SNV Germline	Chr1:197435035	Pathogenic	Inborn genetic diseases Stargardt disease Leber congenital amaurosis 8 Retinitis pigmentosa 12 Leber congenital amaurosis 8 Retinitis pigmentosa 12	Criteria Provided Multiple Submitters No Conflicts	CA344046346	rs_564754426	5 SubmittersRCV000623037 RCV000678549 RCV001040018 RCV003451477 RCV003451476
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)	SNV Germline	Chr1:94062695	Pathogenic	Cone-rod dystrophy 3 Condition: not provided Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA341279593	rs_61749412	3 SubmittersRCV000625951 RCV001239085 RCV004559256
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)	SNV Germline	Chr6:79926290	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease 3 ELOVL4-related disorder	Criteria Provided Conflicting Classifications	CA3901598	rs_201014417	4 SubmittersRCV000734469 RCV001164067 RCV004737993
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)	SNV Germline	Chr1:94024990	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA341284630	rs_1557770154	3 SubmittersRCV000761666 RCV001199616
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	SNV Germline	Chr1:94060739	Likely pathogenic	Cone-rod dystrophy 3 Stargardt disease Condition: not provided Cone-rod dystrophy 3 Age related macular degeneration 2 Retinitis pigmentosa 19 Severe early-childhood-onset retinal dystrophy Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341278906	rs_141823837	5 SubmittersRCV000786893 RCV001002840 RCV003768465 RCV005029445 RCV004817995
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)	SNV Germline	Chr1:94000837	Pathogenic/Likely pathogenic	Stargardt disease Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341277220	rs_1571241930	3 SubmittersRCV000787524 RCV004817999 RCV003558594
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)	SNV Germline	Chr1:94000861	Likely pathogenic	Stargardt disease Retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341277276	rs_1571241947	3 SubmittersRCV000787523 RCV004817998 RCV005411562
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)	SNV Germline	Chr1:94001069	Pathogenic	Stargardt disease Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA956906	rs_2297669	3 SubmittersRCV000787520 RCV001380601 RCV001074913
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)	SNV Unknown	Chr1:94031006	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341286059	rs_1571264551	1 SubmittersRCV000787499
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)	SNV Germline	Chr1:94041351	Pathogenic	Stargardt disease Condition: not provided	Criteria Provided Single Submitter	CA341291128	rs_1570370929	2 SubmittersRCV000787496 RCV001873209
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)	SNV Germline	Chr6:42721857	Likely pathogenic	Retinal dystrophy Stargardt disease Condition: not provided	Criteria Provided Single Submitter	CA364137468	rs_1582780550	3 SubmittersRCV000787662 RCV001250328 RCV001530345
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)	SNV Unknown	Chr11:61959973	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA380846247	rs_1591303900	1 SubmittersRCV000787536
NM_000554.6(CRX):c.827G>A (p.Trp276Ter)	SNV Unknown	Chr19:47839894	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA406631879	rs_1599992622	1 SubmittersRCV000787588
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)	SNV Germline	Chr1:94031837	Pathogenic	Condition: not provided Stargardt disease Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts	CA957733	rs_754899711	3 SubmittersRCV001235117 RCV000787903 RCV005240568
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)	SNV Germline	Chr1:94046942	Likely pathogenic	Stargardt disease Retinal dystrophy	Criteria Provided Single Submitter	CA341275328	rs_1570377861	2 SubmittersRCV000787765 RCV001074143
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)	SNV Germline	Chr11:61951901	Likely pathogenic	Stargardt disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA380831709	rs_1591266591	3 SubmittersRCV000787797 RCV001338345
NM_006017.3(PROM1):c.1911+8G>A	SNV Germline	Chr4:15992240	Conflicting classifications of pathogenicity	Retinitis pigmentosa Condition: not provided Cone-rod dystrophy 12 Stargardt disease 4 Retinal macular dystrophy type 2	Criteria Provided Conflicting Classifications	CA2866608	rs_370302107	3 SubmittersRCV000787863 RCV000895051 RCV001146547 RCV001146548 RCV001149316
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)	SNV Germline	Chr4:15987681	Conflicting classifications of pathogenicity	Stargardt disease Condition: not provided Retinitis pigmentosa Stargardt disease 4 Retinal macular dystrophy type 2 Cone-rod dystrophy 12	Criteria Provided Conflicting Classifications	CA2866506	rs_375358457	3 SubmittersRCV000844932 RCV000908779 RCV001146427 RCV001146424 RCV001146425 RCV001146426
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)	SNV Germline	Chr6:42721852	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease PRPH2-related disorder	Criteria Provided Conflicting Classifications	CA3808606	rs_76989855	5 SubmittersRCV001530346 RCV001250329 RCV000878664
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	SNV Germline	Chr4:15994003	Conflicting classifications of pathogenicity	Condition: not provided Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866653	rs_140027620	3 SubmittersRCV000969187 RCV001150810 RCV001150811 RCV001150812 RCV001150809 RCV004535951
NM_006017.3(PROM1):c.714A>G (p.Gly238=)	SNV Germline	Chr4:16023396	Conflicting classifications of pathogenicity	Condition: not provided not specified Retinal macular dystrophy type 2 Retinitis pigmentosa Cone-rod dystrophy 12 Stargardt disease 4 PROM1-related disorder	Criteria Provided Conflicting Classifications	CA2866977	rs_201662148	4 SubmittersRCV000890690 RCV001000892 RCV001147063 RCV001147062 RCV001147060 RCV001147061 RCV004735870
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)	SNV Germline	Chr4:16008971	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Condition: not provided Cone-rod dystrophy 12	Criteria Provided Conflicting Classifications	CA2866822	rs_200710798	2 SubmittersRCV001144915 RCV001144917 RCV001144916 RCV000935482 RCV001146867
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	SNV Germline	Chr1:94062668	Pathogenic/Likely pathogenic	Stargardt disease Severe early-childhood-onset retinal dystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341279484	rs_1557787473	4 SubmittersRCV001002841 RCV000986370 RCV001858641
NM_006017.3(PROM1):c.1984-1G>T	SNV Germline	Chr4:15989825	Pathogenic	Retinitis pigmentosa 41 Condition: not provided Stargardt disease PROM1-related disorder Cone-rod dystrophy Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA2866549	rs_373680665	6 SubmittersRCV000987420 RCV001049161 RCV002467454 RCV004536013 RCV003324540 RCV003324541
NM_006017.3(PROM1):c.784+1G>A	SNV Germline	Chr4:16023325	Pathogenic/Likely pathogenic	Retinitis pigmentosa 41 Condition: not provided Retinal dystrophy Stargardt disease Leber congenital amaurosis	Criteria Provided Multiple Submitters No Conflicts	CA2866962	rs_745704627	5 SubmittersRCV000987424 RCV001047807 RCV001075553 RCV002466264 RCV003324543
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)	SNV Germline	Chr1:94008812	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341280337	rs_1208195953	4 SubmittersRCV000994034 RCV001199625 RCV004818106
NM_006017.3(PROM1):c.1142-1G>A	SNV Germline	Chr4:16009109	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease 4 Retinitis pigmentosa 41 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinal dystrophy Retinal macular dystrophy type 2	Criteria Provided Multiple Submitters No Conflicts	CA2866849	rs_752619497	7 SubmittersRCV000998228 RCV002497313 RCV001352977 RCV001075075 RCV003987756
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)	SNV Germline	Chr4:16024312	Conflicting classifications of pathogenicity	Condition: not provided Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa	Criteria Provided Conflicting Classifications	CA2867002	rs_376198840	3 SubmittersRCV000998230 RCV001149511 RCV001147961 RCV001147962 RCV001147963
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)	SNV Germline	Chr1:94014623	Pathogenic	Stargardt disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341281397	rs_1571252997	3 SubmittersRCV001002814 RCV001035476
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)	SNV Germline	Chr1:94014652	Pathogenic	Stargardt disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA957294	rs_746252741	3 SubmittersRCV001002815 RCV003769391
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)	SNV Germline	Chr1:94019609	Pathogenic	Stargardt disease Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341282564	rs_1437993640	3 SubmittersRCV001002820 RCV001388592 RCV004818134
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	SNV Germline	Chr1:94021404	Conflicting classifications of pathogenicity	Stargardt disease Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy	Criteria Provided Conflicting Classifications	CA957438	rs_61752439	5 SubmittersRCV001002824 RCV001074894 RCV001216794 RCV004563619
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)	SNV Germline	Chr1:94063114	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341279874	rs_1570393727	1 SubmittersRCV001002842
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)	SNV Germline	Chr1:94103133	Conflicting classifications of pathogenicity	Stargardt disease Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA26891178	rs_1012017728	3 SubmittersRCV001002847 RCV001860519 RCV004818135
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)	SNV Germline	Chr1:94111498	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341285471	rs_1570433137	1 SubmittersRCV001002848
NM_000350.3(ABCA4):c.4254-1G>A	SNV Germline	Chr1:94030527	Likely pathogenic	Stargardt disease Retinal dystrophy	Criteria Provided Single Submitter	CA341285971	rs_886044740	2 SubmittersRCV001002830 RCV001074402
NM_001844.5(COL2A1):c.1527+135G>A	SNV Germline	Chr12:47986201	Pathogenic	Stargardt disease Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA915948787	rs_1592218346	4 SubmittersRCV001002986 RCV001571488 RCV005253675
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)	SNV Germline	Chr6:35503760	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA363779290	rs_1761021773	3 SubmittersRCV001093077 RCV001199560 RCV004818157
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)	SNV Germline	Chr1:94055302	Pathogenic	Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Single Submitter	CA958275	rs_542919944	3 SubmittersRCV001064178 RCV002469338 RCV004813678
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)	SNV Germline	Chr1:94063280	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA958469	rs_145718830	4 SubmittersRCV001045652 RCV005429299
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)	SNV Germline	Chr4:16009098	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease 4 Retinal macular dystrophy type 2 Retinitis pigmentosa Cone-rod dystrophy 12	Criteria Provided Conflicting Classifications	CA2866846	rs_201748228	3 SubmittersRCV001044541 RCV001151119 RCV001151120 RCV001151121 RCV001145008
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)	SNV Germline	Chr6:42704510	Likely pathogenic	PRPH2-related disorder Patterned dystrophy of the retinal pigment epithelium Stargardt disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3808552	rs_369507460	3 SubmittersRCV001051591 RCV001250315 RCV001250332 RCV001530252
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	SNV Germline	Chr1:94021846	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA957488	rs_751844313	5 SubmittersRCV001075350 RCV001340257 RCV004017784 RCV004564577
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)	SNV Germline	Chr1:94055128	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Stargardt disease 3	Criteria Provided Conflicting Classifications	CA958244	rs_768435443	4 SubmittersRCV001075787 RCV003117742 RCV004559904
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	SNV Germline	Chr1:94080709	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease 3	Criteria Provided Conflicting Classifications	CA958686	rs_781716640	7 SubmittersRCV001074574 RCV001268174 RCV001729794 RCV004559903
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	SNV Germline	Chr4:15984309	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided Stargardt disease 4 Retinitis pigmentosa 41 Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Retinitis pigmentosa 41	Criteria Provided Conflicting Classifications	CA92574710	rs_1033920857	4 SubmittersRCV001073905 RCV001862810 RCV002489720 RCV001376252
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	SNV Germline	Chr6:42704485	Pathogenic/Likely pathogenic	Retinal dystrophy Patterned dystrophy of the retinal pigment epithelium Stargardt disease PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364135198	rs_61755813	5 SubmittersRCV001075315 RCV001250333 RCV001250334 RCV001386137 RCV001530324
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)	SNV Germline	Chr6:42704528	Conflicting classifications of pathogenicity	Retinal dystrophy PRPH2-related disorder Stargardt disease Condition: not provided	Criteria Provided Conflicting Classifications	CA364135446	rs_1442844778	4 SubmittersRCV001075038 RCV001228233 RCV001250313 RCV001530249
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)	SNV Germline	Chr6:42722089	Pathogenic/Likely pathogenic	Retinal dystrophy Stargardt disease Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364138153	rs_1242862941	4 SubmittersRCV001073624 RCV001250293 RCV001530300 RCV001862510
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	SNV Germline	Chr4:15980426	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866380	rs_146434364	3 SubmittersRCV001150066 RCV001150067 RCV001150068 RCV001150069 RCV001326315 RCV003890308
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	SNV Germline	Chr4:15987699	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Stargardt disease 4 Retinitis pigmentosa Cone-rod dystrophy 12 Condition: not provided PROM1-related disorder Optic atrophy	Criteria Provided Conflicting Classifications	CA2866509	rs_199727800	4 SubmittersRCV001146429 RCV001146428 RCV001146430 RCV001149203 RCV001229010 RCV004734032 RCV004813801
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)	SNV Germline	Chr4:15994016	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinitis pigmentosa Condition: not provided Retinal macular dystrophy type 2 Stargardt disease 4 Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866657	rs_199674847	4 SubmittersRCV001144700 RCV001150815 RCV001300999 RCV001150814 RCV001150813 RCV003890296
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)	SNV Germline	Chr4:15994044	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Retinitis pigmentosa Stargardt disease 4 Cone-rod dystrophy 12 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866666	rs_201644238	3 SubmittersRCV001144701 RCV001144702 RCV001144703 RCV001146664 RCV002557089 RCV003890297
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)	SNV Germline	Chr4:16000606	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866750	rs_536622788	3 SubmittersRCV001144802 RCV001144803 RCV001144804 RCV001146761 RCV001326038 RCV003890298
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)	SNV Germline	Chr4:16006585	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866780	rs_763710252	3 SubmittersRCV001146762 RCV001146764 RCV001146765 RCV001146763 RCV001442163 RCV003890301
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)	SNV Germline	Chr4:16009055	Conflicting classifications of pathogenicity	Retinitis pigmentosa Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2866838	rs_770268627	3 SubmittersRCV001151115 RCV001151117 RCV001151116 RCV001151118 RCV001858986 RCV005463272
NM_006017.3(PROM1):c.706G>A (p.Val236Met)	SNV Germline	Chr4:16023404	Conflicting classifications of pathogenicity	Retinitis pigmentosa Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2866978	rs_536161084	3 SubmittersRCV001147064 RCV001147066 RCV001147065 RCV001147960 RCV001234845 RCV003890302
NM_006017.3(PROM1):c.376G>A (p.Val126Met)	SNV Germline	Chr4:16033437	Conflicting classifications of pathogenicity	Retinal macular dystrophy type 2 Cone-rod dystrophy 12 Stargardt disease 4 Retinitis pigmentosa Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2867082	rs_199556426	4 SubmittersRCV001147175 RCV001147176 RCV001147173 RCV001147174 RCV001241210 RCV004813803
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)	SNV Germline	Chr4:16075749	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Stargardt disease 4 Condition: not provided Retinal dystrophy	Criteria Provided Conflicting Classifications	CA2867180	rs_755064227	3 SubmittersRCV001145315 RCV001145317 RCV001145316 RCV001147260 RCV001366102 RCV003890299
NM_006017.3(PROM1):c.2582+9A>C	SNV Germline	Chr4:15979386	Conflicting classifications of pathogenicity	Stargardt disease 4 Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Condition: not provided	Criteria Provided Conflicting Classifications	CA2866317	rs_200033458	2 SubmittersRCV001145614 RCV001145615 RCV001145728 RCV001145616 RCV002557115
NM_006017.3(PROM1):c.1579-12A>C	SNV Germline	Chr4:15998500	Conflicting classifications of pathogenicity	Cone-rod dystrophy 12 Retinal macular dystrophy type 2 Retinitis pigmentosa Stargardt disease 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA2866716	rs_370183490	2 SubmittersRCV001147571 RCV001147573 RCV001147572 RCV001147574 RCV002070791
NM_006017.3(PROM1):c.1301+11C>A	SNV Germline	Chr4:16008938	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12	Criteria Provided Conflicting Classifications	CA2866815	rs_189953160	1 SubmittersRCV001144910 RCV001151004 RCV001151005 RCV001151006
NM_006017.3(PROM1):c.1301+10T>A	SNV Germline	Chr4:16008939	Conflicting classifications of pathogenicity	Retinitis pigmentosa Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12	Criteria Provided Conflicting Classifications	CA2866816	rs_192338518	1 SubmittersRCV001144911 RCV001144912 RCV001144913 RCV001144914
NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)	SNV Germline	Chr6:79916818	Conflicting classifications of pathogenicity	Stargardt disease 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3901467	rs_769435926	2 SubmittersRCV001162053 RCV002558546
NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)	SNV Germline	Chr6:79925010	Conflicting classifications of pathogenicity	Stargardt disease 3 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3901559	rs_200915130	4 SubmittersRCV001164066 RCV001220954 RCV002559572
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)	SNV Germline	Chr4:16023376	Pathogenic	Stargardt disease 4	No Assertion Criteria Provided	CA356422832	rs_1730403199	1 SubmittersRCV001199380
NM_000322.5(PRPH2):c.582-1G>A	SNV Germline	Chr6:42704612	Pathogenic/Likely pathogenic	Stargardt disease Retinal dystrophy PRPH2-related disorder Condition: not provided Choroideremia	Criteria Provided Multiple Submitters No Conflicts	CA364135897	rs_1800118693	5 SubmittersRCV001250354 RCV004813889 RCV001212443 RCV001530353 RCV005419038
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)	SNV Germline	Chr1:94001082	Pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA956910	rs_568627877	3 SubmittersRCV001240517 RCV004562083 RCV005057139
NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)	SNV Germline	Chr1:94046932	Pathogenic	Condition: not provided Stargardt disease 3	Criteria Provided Single Submitter	CA341275309	rs_1660700260	2 SubmittersRCV001247612 RCV004557489
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)	SNV Germline	Chr1:94098827	Pathogenic/Likely pathogenic	Condition: not provided Cone-rod dystrophy 3 Stargardt disease 3	Criteria Provided Multiple Submitters No Conflicts	CA341289018	rs_1662208035	4 SubmittersRCV001240591 RCV001352995 RCV004557479
NM_000350.3(ABCA4):c.2382+1G>A	SNV Germline	Chr1:94056600	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341277650	rs_1660983058	3 SubmittersRCV001235513 RCV005419046
NM_201548.5(CERKL):c.678-1G>A	SNV Germline	Chr2:181558709	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Retinitis pigmentosa 26	Criteria Provided Multiple Submitters No Conflicts	CA349741159	rs_1209393896	3 SubmittersRCV001242249 RCV002466648 RCV003469461
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)	SNV Germline	Chr6:42704551	Pathogenic/Likely pathogenic	Stargardt disease PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364135565	rs_1388865786	3 SubmittersRCV001250310 RCV001387192 RCV001530363
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)	SNV Germline	Chr6:42704555	Pathogenic	Stargardt disease Condition: not provided PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135589	rs_61755803	3 SubmittersRCV001250307 RCV001530361 RCV002568706
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)	SNV Germline	Chr6:42704581	Pathogenic	Patterned dystrophy of the retinal pigment epithelium Vitelliform macular dystrophy 2 Stargardt disease PRPH2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA364135723	rs_1554269081	2 SubmittersRCV001250281 RCV001250282 RCV001250373 RCV001879779
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)	SNV Germline	Chr6:42721955	Conflicting classifications of pathogenicity	Stargardt disease Cone-rod dystrophy PRPH2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3808625	rs_543703718	3 SubmittersRCV001250302 RCV001250301 RCV001400129 RCV001530280
NM_000322.5(PRPH2):c.828+2T>C	SNV Germline	Chr6:42704363	Pathogenic/Likely pathogenic	Stargardt disease PRPH2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364134529	rs_1800108496	3 SubmittersRCV001250343 RCV001301121 RCV001530260
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)	SNV Germline	Chr1:94010823	Pathogenic/Likely pathogenic	Condition: not provided Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341280743	rs_771092150	3 SubmittersRCV001296443 RCV001352990 RCV005236773
NM_000350.3(ABCA4):c.95C>T (p.Pro32Leu)	SNV Germline	Chr1:94113038	Pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341286731	rs_1428504985	2 SubmittersRCV001378487 RCV005432697
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)	SNV Germline	Chr4:15989785	Pathogenic	Condition: not provided Stargardt disease Cone-rod dystrophy 12 Retinitis pigmentosa 41	Criteria Provided Multiple Submitters No Conflicts	CA356430225	rs_1324631413	3 SubmittersRCV001383295 RCV002466268 RCV005253830
NM_000350.3(ABCA4):c.2383-13C>T	SNV Germline	Chr1:94055328	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA958279	rs_56026711	3 SubmittersRCV001497832 RCV005419156
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)	SNV Germline	Chr1:94001080	Conflicting classifications of pathogenicity	Severe early-childhood-onset retinal dystrophy Stargardt disease Condition: not provided	Criteria Provided Conflicting Classifications	CA341277582	rs_2100994049	3 SubmittersRCV001526707 RCV002469401 RCV002568845
NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)	SNV Germline	Chr14:67727139	Likely pathogenic	Stargardt disease	Criteria Provided Single Submitter	CA390151468	rs_2140145566	1 SubmittersRCV001591834
NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val)	SNV Germline	Chr1:94060628	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA341278608	rs_942734318	2 SubmittersRCV001588599 RCV005237938
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)	SNV Germline	Chr1:94011268	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA26838213	rs_200849015	5 SubmittersRCV001682640 RCV004587194 RCV005023215
NM_000350.3(ABCA4):c.3814-2A>T	SNV Germline	Chr1:94036790	Pathogenic	Retinitis pigmentosa 19 Stargardt disease	Criteria Provided Single Submitter	CA341288468	rs_1660350150	2 SubmittersRCV001808133 RCV002468642
NM_000350.3(ABCA4):c.1555-2A>C	SNV Germline	Chr1:94063319	Likely pathogenic	Stargardt disease	Criteria Provided Single Submitter	CA341280680	rs_2101079462	1 SubmittersRCV001839464
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys)	SNV Germline	Chr1:94055149	Likely pathogenic	Condition: not provided Retinal dystrophy Severe early-childhood-onset retinal dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA26843273	rs_143797418	4 SubmittersRCV001894361 RCV004815672 RCV004797959 RCV005409042
NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter)	SNV Germline	Chr1:94062748	Pathogenic	Condition: not provided Stargardt disease 3	Criteria Provided Single Submitter	CA341279797	rs_2101078482	2 SubmittersRCV001905717 RCV004558701
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	SNV Germline	Chr1:94042785	Pathogenic/Likely pathogenic	Condition: not provided Retinal dystrophy Retinitis pigmentosa 19 Stargardt disease Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA957987	rs_138641544	5 SubmittersRCV001970179 RCV004816824 RCV005623102 RCV004587272 RCV005025523
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)	SNV Germline	Chr1:94031804	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341286798	rs_1183074086	3 SubmittersRCV001953886 RCV003331250 RCV004816828
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)	SNV Germline	Chr1:94000869	Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Single Submitter	CA341277290	rs_61750655	2 SubmittersRCV001993991 RCV002468652
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)	SNV Germline	Chr1:94021899	Pathogenic	Condition: not provided Cone-rod dystrophy Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341283936	rs_1282472315	2 SubmittersRCV001963229 RCV003324576 RCV003324577
NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro)	SNV Germline	Chr1:94055176	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341276903	rs_2101067700	2 SubmittersRCV002042109 RCV004801062
NM_000350.3(ABCA4):c.53G>A (p.Arg18Gln)	SNV Germline	Chr1:94120993	Pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA26845219	rs_868543294	2 SubmittersRCV002042187 RCV004699498
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)	SNV Germline	Chr4:16006568	Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Single Submitter	CA356435156	rs_2149234796	2 SubmittersRCV001866864 RCV002466272
NM_000350.3(ABCA4):c.768+1G>A	SNV Germline	Chr1:94098793	Pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341288696	rs_2523965353	1 SubmittersRCV002468686
NM_000350.3(ABCA4):c.3608-1G>A	SNV Germline	Chr1:94037351	Pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341289687	rs_2523752501	1 SubmittersRCV002468911
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)	SNV Germline	Chr1:94030467	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA957655	rs_774582644	1 SubmittersRCV002468913
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)	SNV Germline	Chr1:94098873	Likely pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341289346	rs_2523965931	1 SubmittersRCV002468914
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)	SNV Germline	Chr1:94055245	Pathogenic	Stargardt disease	No Assertion Criteria Provided	CA341277056	rs_61750202	1 SubmittersRCV002469936
NM_000350.3(ABCA4):c.443-2A>G	SNV Germline	Chr1:94103144	Likely pathogenic	Stargardt disease	Criteria Provided Single Submitter	CA341291472	rs_2523980607	1 SubmittersRCV002471760
NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)	SNV Germline	Chr1:94001099	Pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341277622	rs_1166357291	2 SubmittersRCV002664166 RCV005419575
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)	SNV Germline	Chr1:94121044	Pathogenic/Likely pathogenic	Condition: not provided Stargardt disease	Criteria Provided Multiple Submitters No Conflicts	CA341289047	rs_1662938116	2 SubmittersRCV002648183 RCV003324587
NM_000350.3(ABCA4):c.4254-5T>A	SNV Germline	Chr1:94030531	Conflicting classifications of pathogenicity	Condition: not provided Stargardt disease	Criteria Provided Conflicting Classifications	CA2574438365	rs_886044551	2 SubmittersRCV002872475 RCV005239521
NM_000350.3(ABCA4):c.769-784C>T	SNV Germline	Chr1:94084225	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Optic atrophy Stargardt disease ABCA4-related disorder	Criteria Provided Conflicting Classifications	CA26874240	rs_144695319	6 SubmittersRCV003326754 RCV004818324 RCV004818325 RCV005406664 RCV004529625
NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)	SNV Germline	Chr1:94014652	Pathogenic	Stargardt disease Severe early-childhood-onset retinal dystrophy Age related macular degeneration 2 Retinitis pigmentosa 19 Cone-rod dystrophy 3	Criteria Provided Multiple Submitters No Conflicts	CA341281459	rs_746252741	2 SubmittersRCV004526446 RCV005023562
NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)	SNV Germline	Chr1:94111475	Pathogenic	Stargardt disease 3 Retinitis pigmentosa 19	Criteria Provided Single Submitter		rs_1662601425	2 SubmittersRCV004560356 RCV005254906
NM_006017.3(PROM1):c.2378T>A (p.Leu793Ter)	SNV Germline	Chr4:15980533	Pathogenic/Likely pathogenic	Stargardt disease 4 Retinal dystrophy	No Assertion Criteria Provided			2 SubmittersRCV005412666 RCV004814276
NM_006017.3(PROM1):c.1984-1G>A	SNV Unknown	Chr4:15989825	Likely pathogenic	Retinal macular dystrophy type 2 Stargardt disease 4 Cone-rod dystrophy 12	Criteria Provided Single Submitter		rs_373680665	1 SubmittersRCV004586423
NM_000350.3(ABCA4):c.5329A>G (p.Met1777Val)	SNV Germline	Chr1:94014674	Conflicting classifications of pathogenicity	Cone dystrophy and rod monochromatism Stargardt disease	Criteria Provided Conflicting Classifications			1 SubmittersRCV005419838 RCV005419837

NM_004183.4(BEST1):c.422G>A (p.Arg141His)

SNV
Germline

Chr11:61955892

Pathogenic/Likely pathogenic

Vitelliform macular dystrophy 2
Autosomal recessive bestrophinopathy
Condition: not provided
Stargardt disease
Retinal dystrophy
BEST1-related disorder
BEST1-related dominant retinopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA115724

rs_121918284

16 SubmittersRCV000002862 RCV000002863 RCV000086135 RCV000787541 RCV001075875 RCV004532276 RCV005364864

NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)

SNV
Germline

Chr6:79916743

Pathogenic/Likely pathogenic

Stargardt disease 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117148

rs_104893946

3 SubmittersRCV000005228 RCV002512800

NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)

SNV
Germline

Chr4:16013299

Pathogenic/Likely pathogenic

Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
Macular dystrophy
Stargardt disease
Retinitis pigmentosa
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4

Criteria Provided
Multiple Submitters
No Conflicts

CA117645

rs_137853006

20 SubmittersRCV000005960 RCV000005961 RCV000005962 RCV000479499 RCV000504765 RCV000787649 RCV000787648 RCV001723543 RCV002496275

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

SNV
Germline

Chr1:94051698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA119128

rs_76157638

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

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

SNV
Germline

Chr1:94047046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227031

rs_58331765

14 SubmittersRCV000008330 RCV000085506 RCV001002838 RCV001073603 RCV002247267 RCV001807722 RCV005025030 RCV004732538

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

SNV
Germline

Chr1:94005509

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119129

rs_61751408

17 SubmittersRCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV001074885 RCV000826132 RCV002247268

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

SNV
Germline

Chr1:94001992

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA220688

rs_41292677

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

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

SNV
Germline

Chr1:94043420

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227082

rs_61750061

5 SubmittersRCV000008337 RCV000085548 RCV003398468 RCV004795382

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

SNV
Germline

Chr1:94008251

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119132

rs_1800553

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

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

SNV
Germline

Chr1:94007731

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA119133

rs_28938473

13 SubmittersRCV000008346 RCV000085773 RCV000259062 RCV000408598 RCV000778995 RCV000787515 RCV001073250

NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)

SNV
Germline

Chr1:94007727

Pathogenic

Stargardt disease
Condition: not provided

Criteria Provided
Single Submitter

CA119134

rs_61753034

3 SubmittersRCV000008347 RCV000085774

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

SNV
Germline

Chr1:94043413

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119135

rs_61751374

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

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

SNV
Germline

Chr1:94098928

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203216

rs_61750200

21 SubmittersRCV000008355 RCV000085812 RCV000179293 RCV000787521 RCV000763050 RCV001074780 RCV004558240

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

SNV
Germline

Chr1:94120994

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227296

rs_121909205

11 SubmittersRCV000008356 RCV000085719 RCV001075717 RCV004558241

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

SNV
Germline

Chr1:94063250

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226911

rs_61751392

26 SubmittersRCV000085410 RCV000408513 RCV000505133 RCV000504750 RCV000787481 RCV000787482 RCV001002385 RCV001196126 RCV004528784

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

SNV
Germline

Chr1:94031110

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA129033

rs_61750130

24 SubmittersRCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000787498 RCV000763044 RCV000778258 RCV001075868 RCV004786246

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

SNV
Germline

Chr1:94005500

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119140

rs_61751383

22 SubmittersRCV000008365 RCV000085786 RCV000504794 RCV000505162 RCV000763437 RCV000787773 RCV001542555 RCV002512903 RCV003447472 RCV004528093

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

SNV
Germline

Chr1:94047009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA119146

rs_1801581

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

NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)

SNV
Germline

Chr6:42721820

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
Macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Vitelliform macular dystrophy 3
Retinitis pigmentosa 7

Criteria Provided
Multiple Submitters
No Conflicts

CA122930

rs_61755793

14 SubmittersRCV000014053 RCV000084982 RCV000787664 RCV000787663 RCV001074392 RCV001054658 RCV001250353 RCV001250367 RCV001799605 RCV005234784

NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)

SNV
Germline

Chr6:42721821

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
PRPH2-related disorder
maculopathy
Retinitis pigmentosa
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Cone-rod dystrophy
Stargardt disease
Patterned macular dystrophy 1
Retinitis pigmentosa 7
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA122936

rs_61755792

17 SubmittersRCV000014056 RCV000084981 RCV001049315 RCV001003147 RCV001250348 RCV001250349 RCV001250351 RCV001250350 RCV001250352 RCV001352972 RCV002466402 RCV003887869

NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)

SNV
Germline

Chr6:42704564

Pathogenic/Likely pathogenic

Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Vitelliform macular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA122938

rs_61755798

8 SubmittersRCV000084997 RCV000322776 RCV001074849 RCV001250286 RCV001250287 RCV001250288 RCV002508119

NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)

SNV
Germline

Chr6:42722199

Pathogenic/Likely pathogenic

Retinitis pigmentosa 7
Condition: not provided
Patterned dystrophy of the retinal pigment epithelium
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Choroidal dystrophy, central areolar 2

Criteria Provided
Multiple Submitters
No Conflicts

CA226209

rs_61755771

14 SubmittersRCV000014067 RCV000084955 RCV001250291 RCV000987699 RCV001039794 RCV001075450 RCV001250276 RCV003987319

NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)

SNV
Germline

Chr6:42721911

Pathogenic/Likely pathogenic

Choroidal dystrophy, central areolar 2
Condition: not provided
Cone dystrophy
Progressive cone dystrophy (without rod involvement)
Retinal dystrophy
PRPH2-related disorder
maculopathy
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Retinitis pigmentosa
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA122946

rs_61755783

19 SubmittersRCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001075677 RCV001061048 RCV001003149 RCV001250319 RCV001250318 RCV001250320 RCV001353001

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

SNV
Germline

Chr1:94042767

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220683

rs_61750120

20 SubmittersRCV000078665 RCV000150052 RCV001002834 RCV001074904 RCV001195927 RCV002490678 RCV004537308 RCV005338078

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

SNV
Germline

Chr1:94011395

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220687

rs_1800728

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

NM_006017.3(PROM1):c.1977C>T (p.Asn659=)

SNV
Germline

Chr4:15991228

Conflicting classifications of pathogenicity

not specified
Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinal disorders

Criteria Provided
Conflicting Classifications

CA148434

rs_149028760

7 SubmittersRCV000081346 RCV000326660 RCV000381327 RCV000296436 RCV000351307 RCV000892544 RCV005400701

NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)

SNV
Germline

Chr6:42721913

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Cone-rod dystrophy
Autosomal recessive bestrophinopathy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinitis pigmentosa 7
Vitelliform macular dystrophy 3
Vitelliform macular dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA185988

rs_61755781

12 SubmittersRCV000084969 RCV001250306 RCV000161145 RCV001051727 RCV001074856 RCV001250316 RCV001723663 RCV001250317 RCV001353037 RCV005031577 RCV002508140

NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)

SNV
Germline

Chr6:42721866

Pathogenic/Likely pathogenic

Condition: not provided
Pigmentary retinopathy
Macular degeneration
Abnormality of retinal pigmentation
Blurred vision
Retinal dystrophy
PRPH2-related disorder
Pigmentary retinal dystrophy
Retinitis pigmentosa
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA226238

rs_61755787

7 SubmittersRCV000084975 RCV000626661 RCV001074377 RCV001378482 RCV001270171 RCV001250327 RCV001250326

NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)

SNV
Germline

Chr6:42704555

Pathogenic/Likely pathogenic

Condition: not provided
Patterned macular dystrophy 1
PRPH2-related disorder
Retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA226277

rs_61755803

6 SubmittersRCV000085003 RCV001542667 RCV001052017 RCV001074371 RCV001250308

NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr6:42704478

Pathogenic

Condition: not provided
Stargardt disease
PRPH2-related disorder
Macular dystrophy
Patterned dystrophy of the retinal pigment epithelium
Choroidal dystrophy, central areolar 2
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA226300

rs_61755814

9 SubmittersRCV000085015 RCV001250335 RCV001386136 RCV000787668 RCV001250336 RCV004760371 RCV004815035

NM_000322.5(PRPH2):c.828+3A>T

SNV
Germline

Chr6:42704362

Pathogenic

Condition: not provided
Retinitis pigmentosa
Doyne honeycomb retinal dystrophy
PRPH2-related disorder
Retinal dystrophy
Choroideremia
Cone-rod dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Stargardt disease
Patterned macular dystrophy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA226319

rs_281865373

10 SubmittersRCV000085026 RCV001250357 RCV001250358 RCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250346 RCV001250347 RCV001250344 RCV001542666

NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)

SNV
Germline

Chr6:42698470

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Stargardt disease
Retinal dystrophy
PRPH2-related disorder
Retinitis pigmentosa 7
Patterned macular dystrophy 1
Vitelliform macular dystrophy 3
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226322

rs_62645939

11 SubmittersRCV000085028 RCV001161271 RCV001250360 RCV004815038 RCV001438086 RCV005394359

NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)

SNV
Germline

Chr6:42698398

Conflicting classifications of pathogenicity

Condition: not provided
Adult-onset foveomacular vitelliform dystrophy
Cone-rod dystrophy
Patterned macular dystrophy 1
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy
PRPH2-related disorder
Stargardt disease
Patterned dystrophy of the retinal pigment epithelium
Retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA226331

rs_61748434

9 SubmittersRCV000085034 RCV000261808 RCV000406549 RCV000298015 RCV000301680 RCV000356624 RCV001066591 RCV001250365 RCV001250366 RCV000787872 RCV004815041

NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)

SNV
Germline

Chr6:42722241

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
Vitelliform macular dystrophy 3
Retinal dystrophy
PRPH2-related disorder
not specified
Optic atrophy
Choroidal dystrophy, central areolar 2
Patterned macular dystrophy 1
Pigmentary retinal dystrophy
Retinitis pigmentosa 7
Vitelliform macular dystrophy 3

Criteria Provided
Conflicting Classifications

CA226333

rs_61755767

8 SubmittersRCV000085036 RCV001250380 RCV001352968 RCV003888461 RCV001462596 RCV001530276 RCV004815042 RCV005394360

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.1335C>G (p.Ser445Arg)

SNV
Germline

Chr1:94078611

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226886

rs_61748552

6 SubmittersRCV000085388 RCV000210294 RCV000504649 RCV005406817

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

SNV
Germline

Chr1:94077833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA226892

rs_1800548

13 SubmittersRCV000085395 RCV000622340 RCV001074274 RCV001002844 RCV001102041 RCV001808322 RCV003128228 RCV003317086

NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)

SNV
Germline

Chr1:94063262

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA226906

rs_61752395

6 SubmittersRCV000085407 RCV000276834 RCV000315522 RCV000363019 RCV000369062 RCV001074421 RCV001100054

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

SNV
Germline

Chr1:94111579

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226908

rs_150774447

10 SubmittersRCV000085408 RCV000210980 RCV000826094 RCV004529882 RCV004815079 RCV005031583

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

SNV
Germline

Chr1:94063224

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226915

rs_61748558

12 SubmittersRCV000085413 RCV000778263 RCV000782281 RCV000763048 RCV000761253 RCV001074836 RCV004558302

NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)

SNV
Germline

Chr1:94062716

Pathogenic

Condition: not provided
Stargardt disease 3

Criteria Provided
Single Submitter

CA226929

rs_61752397

3 SubmittersRCV000085426 RCV004558303

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

SNV
Germline

Chr1:94111561

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226931

rs_55732384

8 SubmittersRCV000085427 RCV000408452 RCV000763051 RCV001073359 RCV004558304

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

SNV
Germline

Chr1:94062710

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226932

rs_61749409

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

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

SNV
Germline

Chr1:94062695

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226936

rs_61749412

9 SubmittersRCV000085431 RCV000408475 RCV000787762 RCV001075859

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

SNV
Germline

Chr1:94062587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201008

rs_61749417

9 SubmittersRCV000085445 RCV000174470 RCV000318324 RCV000260757 RCV000353201 RCV000356519 RCV000986369 RCV001075850 RCV001098279

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

SNV
Germline

Chr1:94062576

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226961

rs_61752401

12 SubmittersRCV000085448 RCV000408499 RCV001542645 RCV004558306 RCV004584346 RCV005417459 RCV004815084

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

SNV
Germline

Chr1:94060656

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226973

rs_61749423

17 SubmittersRCV000085458 RCV000210310 RCV000504983 RCV000408512 RCV001073628 RCV001195987 RCV005025147 RCV004558307 RCV004732663

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

SNV
Germline

Chr1:94111526

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA226983

rs_61751412

10 SubmittersRCV000085464 RCV000787776 RCV001000882 RCV001353042 RCV002466250 RCV004794358

NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)

SNV
Germline

Chr1:94056689

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
ABCA4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA226988

rs_61749429

5 SubmittersRCV000085469 RCV001002839 RCV004724803

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

SNV
Germline

Chr1:94055245

Pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy
Cone-rod dystrophy 3

Criteria Provided
Multiple Submitters
No Conflicts

CA227000

rs_61750202

6 SubmittersRCV000085479 RCV000787774 RCV001075477 RCV005252127

NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)

SNV
Germline

Chr1:94048921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227022

rs_61749440

11 SubmittersRCV000085500 RCV000375069 RCV000260644 RCV000280747 RCV000315748 RCV001197697 RCV001096530 RCV004815090

NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)

SNV
Germline

Chr1:94048910

Conflicting classifications of pathogenicity

Condition: not provided
Cone-rod dystrophy
Stargardt disease
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA227025

rs_61754030

10 SubmittersRCV000085502 RCV000787777 RCV002470763 RCV001101956

NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)

SNV
Germline

Chr1:94047010

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227037

rs_61749446

6 SubmittersRCV000085510 RCV001074959 RCV003330430 RCV004529885

NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)

SNV
Germline

Chr1:94046960

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA227045

rs_61754033

5 SubmittersRCV000085518 RCV000271906 RCV000287276 RCV000377007 RCV000322409 RCV001099949 RCV004815093

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

SNV
Germline

Chr1:94044608

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227073

rs_61751262

6 SubmittersRCV000085541 RCV001002836 RCV001073618 RCV005025153

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

SNV
Germline

Chr1:94043462

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227078

rs_61749459

9 SubmittersRCV000085545 RCV000408496 RCV003324507 RCV004800282 RCV004529887 RCV004815097

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

SNV
Germline

Chr1:94121014

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227106

rs_62645946

10 SubmittersRCV000085568 RCV000779010 RCV001074134 RCV002247489 RCV001723665 RCV002051808 RCV003324509 RCV003324510 RCV005025156

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

SNV
Germline

Chr1:94042766

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227109

rs_61750121

7 SubmittersRCV000085570 RCV001073697 RCV004700403 RCV003992183

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

SNV
Germline

Chr1:94030992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227173

rs_61754044

10 SubmittersRCV000085619 RCV000624755 RCV001075880 RCV004562247 RCV005252753 RCV005417461

NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)

SNV
Germline

Chr1:94030497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202170

rs_1800549

9 SubmittersRCV000346856 RCV000408392 RCV000085624 RCV000176915 RCV000294305 RCV003888474 RCV001098065 RCV000307168

NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)

SNV
Germline

Chr1:94108591

Pathogenic/Likely pathogenic

Condition: not provided
Age related macular degeneration 2
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227179

rs_62646860

5 SubmittersRCV000085626 RCV001195926 RCV003330431

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

SNV
Germline

Chr1:94030452

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227185

rs_61750142

14 SubmittersRCV000085631 RCV000408447 RCV000779005 RCV001073587 RCV002247490 RCV003324511 RCV005025157

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

SNV
Germline

Chr1:94029548

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227190

rs_61752434

7 SubmittersRCV000085635 RCV001808324 RCV005055576

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

SNV
Germline

Chr1:94029527

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227192

rs_61750145

14 SubmittersRCV000085636 RCV000408536 RCV001002829 RCV001198562 RCV001074852 RCV002498456 RCV004732671

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

SNV
Germline

Chr1:94029522

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227193

rs_61750146

15 SubmittersRCV000085637 RCV000408472 RCV000763043 RCV001073630 RCV001808325 RCV004732672 RCV005234981 RCV005417462 RCV005417463

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

SNV
Germline

Chr1:94103130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227215

rs_62646862

13 SubmittersRCV000085654 RCV000408574 RCV000402682 RCV000844929 RCV001100156 RCV004815114

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

SNV
Germline

Chr1:94025011

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227218

rs_61750152

16 SubmittersRCV000085656 RCV000177509 RCV000210286 RCV000623715 RCV001002827 RCV001075849 RCV001542561 RCV005025160

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

SNV
Germline

Chr1:94021934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227226

rs_1762111

19 SubmittersRCV000085664 RCV000335992 RCV000314956 RCV000407014 RCV000505175 RCV000787502 RCV000787778 RCV001005005 RCV002509209

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

SNV
Germline

Chr1:94021695

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227239

rs_61750155

20 SubmittersRCV000085674 RCV000408465 RCV001002825 RCV001074177 RCV001257846 RCV001808326 RCV003387758 RCV005025163 RCV005417464 RCV004732673

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

SNV
Germline

Chr1:94021340

Pathogenic/Likely pathogenic; other

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227253

rs_61751404

21 SubmittersRCV000085683 RCV000210311 RCV000505114 RCV000408519 RCV000787504 RCV002505017 RCV004760372 RCV004732674

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

SNV
Germline

Chr1:94021339

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227254

rs_61751403

17 SubmittersRCV000085684 RCV000321118 RCV000504816 RCV000787505 RCV003223338 RCV005031587

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

SNV
Germline

Chr1:94019701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227271

rs_61750563

10 SubmittersRCV000085696 RCV001073371 RCV002255285 RCV002470765 RCV004528785

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

SNV
Germline

Chr1:94103071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227276

rs_61748532

13 SubmittersRCV000085700 RCV001073775 RCV001196794 RCV001353027 RCV001449733 RCV005364981 RCV005031588

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

SNV
Germline

Chr1:94014687

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227298

rs_61750571

8 SubmittersRCV000085721 RCV000787509 RCV001074187 RCV001352958 RCV001723668 RCV004529892

NM_000350.3(ABCA4):c.5460+1G>A

SNV
Germline

Chr1:94014542

Pathogenic

Condition: not provided
Retinitis pigmentosa
Stargardt disease
Autosomal recessive retinitis pigmentosa
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA227308

rs_61753030

6 SubmittersRCV000085729 RCV000791319 RCV001002813 RCV001257848 RCV004815123

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

SNV
Germline

Chr1:94011319

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227316

rs_62642576

7 SubmittersRCV000085736 RCV004815124 RCV004562248 RCV005406820

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

SNV
Germline

Chr1:94011309

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227317

rs_61750575

5 SubmittersRCV000085737 RCV003152681 RCV004689603 RCV005025166

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

SNV
Germline

Chr1:94011256

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227320

rs_61750633

6 SubmittersRCV000085739 RCV000678512 RCV000787512 RCV004815125

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

SNV
Germline

Chr1:94010911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202869

rs_1801466

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

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

SNV
Germline

Chr1:94010821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227333

rs_1800552

19 SubmittersRCV000085752 RCV000408593 RCV000623966 RCV000787513 RCV001075015 RCV000778998 RCV000787764 RCV001196150 RCV002470766

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

SNV
Germline

Chr1:94010795

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227338

rs_61751407

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

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

SNV
Germline

Chr1:94008290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA285822

rs_56142141

9 SubmittersRCV000085768 RCV000211880 RCV000284620 RCV000339604 RCV000375640 RCV000379050 RCV001096228 RCV001195781 RCV003888479 RCV004562249

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

SNV
Germline

Chr1:94007710

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227357

rs_61750639

11 SubmittersRCV000085778 RCV001002809 RCV001075771 RCV005055577 RCV005234984

NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)

SNV
Germline

Chr1:94005484

Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA227367

rs_61750642

4 SubmittersRCV000085788 RCV003324514

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

SNV
Germline

Chr1:94005470

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227369

rs_61753038

10 SubmittersRCV000085790 RCV000787772 RCV000763435 RCV001073783 RCV002283455 RCV004732675

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

SNV
Germline

Chr1:94001911

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227380

rs_61750645

14 SubmittersRCV000085797 RCV000504630 RCV000787519 RCV001004998 RCV001770079 RCV005357540

NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)

SNV
Germline

Chr1:94001102

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA227386

rs_61750646

6 SubmittersRCV000085804 RCV004800285

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

SNV
Germline

Chr1:94001072

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227388

rs_61750648

12 SubmittersRCV000085806 RCV000408484 RCV001075529 RCV004017397 RCV005357541 RCV004783742 RCV005417958

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

SNV
Germline

Chr1:94001068

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227389

rs_62642564

22 SubmittersRCV000085807 RCV000408534 RCV000505080 RCV001074412 RCV004528786 RCV004017398 RCV005025167 RCV004815130 RCV005252116

NM_000350.3(ABCA4):c.635G>A (p.Arg212His)

SNV
Germline

Chr1:94098927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA203214

rs_6657239

11 SubmittersRCV000085814 RCV000369853 RCV000315191 RCV000369400 RCV001098368 RCV000179292 RCV000269487 RCV003888483

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

SNV
Germline

Chr1:94000924

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227401

rs_61750652

5 SubmittersRCV000085817 RCV001074273 RCV004526616 RCV005031590

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

SNV
Germline

Chr1:93998027

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227415

rs_61750658

4 SubmittersRCV000085829 RCV001002806 RCV005025168

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

SNV
Germline

Chr1:93997869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA227439

rs_61748521

7 SubmittersRCV000085848 RCV001075235 RCV003324515 RCV004786366

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

SNV
Germline

Chr1:94098794

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA227458

rs_62645944

18 SubmittersRCV000085866 RCV000408540 RCV000678516 RCV000763049 RCV000787525 RCV000787526 RCV001074394 RCV003224863 RCV003993802 RCV004529896

NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)

SNV
Germline

Chr1:94042804

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289216

rs_570745701

5 SubmittersRCV000123437 RCV000291533 RCV000332468 RCV000382403 RCV001494980 RCV000277374 RCV001075760 RCV001098162

NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)

SNV
Germline

Chr1:94037199

Conflicting classifications of pathogenicity

not specified
Cone-Rod Dystrophy, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder
Stargardt Disease, Recessive

Criteria Provided
Conflicting Classifications

CA289219

rs_147884766

6 SubmittersRCV000123439 RCV000310721 RCV000266131 RCV000365294 RCV000726042 RCV001101850 RCV000406941

NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)

SNV
Germline

Chr6:79921662

Pathogenic

Spinocerebellar ataxia type 34
Spinocerebellar ataxia type 34
Stargardt disease 3
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
ELOVL4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA170078

rs_587777598

3 SubmittersRCV000132563 RCV002483274 RCV003479020

NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)

SNV
Germline

Chr6:42721836

Pathogenic/Likely pathogenic

Retinitis pigmentosa
Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA270015

rs_527236098

11 SubmittersRCV000132579 RCV000438661 RCV001055454 RCV001073378 RCV001250331

NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)

SNV
Germline

Chr11:61958282

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
Vitelliform macular dystrophy 2
BEST1-related disorder

Criteria Provided
Conflicting Classifications

CA233532

rs_727503824

6 SubmittersRCV000723944 RCV001270355 RCV001262506 RCV004732711

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

SNV
Germline

Chr1:94021848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233403

rs_113106943

11 SubmittersRCV000285181 RCV000416254 RCV000408525 RCV000323858 RCV000376503 RCV000381856 RCV000504993 RCV001073617 RCV004815221 RCV005359324

NM_006017.3(PROM1):c.1497C>T (p.Ile499=)

SNV
Germline

Chr4:16000577

Conflicting classifications of pathogenicity

not specified
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180342

rs_113895168

8 SubmittersRCV000153771 RCV001144801 RCV001150902 RCV001150903 RCV001150904 RCV004815231 RCV000757689

NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)

SNV
Germline

Chr4:16025218

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 4
Retinitis pigmentosa
Stargardt disease 4
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinal dystrophy
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Autosomal recessive retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA236211

rs_140872693

10 SubmittersRCV000171375 RCV000356757 RCV000390528 RCV000765766 RCV004815269 RCV000348573 RCV000987426 RCV001257791

NM_006017.3(PROM1):c.1345G>A (p.Val449Met)

SNV
Germline

Chr4:16006647

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
PROM1-related disorder
Condition: not provided
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA239871

rs_200620291

7 SubmittersRCV001147666 RCV001535742 RCV001147668 RCV001151003 RCV004539610 RCV000724359 RCV001147667

NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)

SNV
Germline

Chr6:42704468

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome
Stargardt disease
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA241332

rs_542296728

6 SubmittersRCV000175581 RCV003389460 RCV001250337 RCV001463523

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

SNV
Germline

Chr1:94014685

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957302

rs_760549861

16 SubmittersRCV000408555 RCV000441041 RCV000826133 RCV001074401 RCV002485455 RCV005252827 RCV004732802

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

SNV
Germline

Chr1:94015738

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602420

rs_886044750

6 SubmittersRCV000408509 RCV001073541 RCV001383600 RCV001196916 RCV002267732 RCV005418025

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

SNV
Germline

Chr1:94021279

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602425

rs_886044746

4 SubmittersRCV000408473 RCV001002822 RCV005090154 RCV004816416

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

SNV
Germline

Chr1:94021880

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA957495

rs_777415466

8 SubmittersRCV000408448 RCV000761665 RCV004816415 RCV005418024

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

SNV
Germline

Chr1:94029465

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957590

rs_568792949

10 SubmittersRCV000408586 RCV001074181 RCV001380976 RCV003401161 RCV005031808 RCV004732801

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

SNV
Germline

Chr1:94030427

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957648

rs_200967229

6 SubmittersRCV000408571 RCV001854784 RCV005418023 RCV003888652

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

SNV
Germline

Chr1:94030991

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602432

rs_61750138

8 SubmittersRCV000515660 RCV000504972 RCV000408462 RCV001854783 RCV004526649 RCV005025376

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

SNV
Germline

Chr1:94041249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957928

rs_768278935

7 SubmittersRCV000408467 RCV000761669 RCV001257844 RCV003330593 RCV004816402 RCV002267731 RCV005025375

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

SNV
Germline

Chr1:94046943

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958124

rs_201471607

13 SubmittersRCV000408500 RCV000413621 RCV000787770 RCV000787491 RCV000787492 RCV000787490 RCV001074886 RCV004796120 RCV004558582 RCV005252130

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

SNV
Germline

Chr1:94046962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958130

rs_368846708

6 SubmittersRCV000278622 RCV000323631 RCV000425865 RCV000408538 RCV000338922 RCV000373695 RCV004816396 RCV004816397 RCV005025374 RCV005418022

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

SNV
Germline

Chr1:94051677

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958220

rs_746566873

6 SubmittersRCV000408530 RCV000490201 RCV001074708 RCV004532828 RCV005406968

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

SNV
Germline

Chr1:94063153

Likely pathogenic

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

Criteria Provided
Single Submitter

CA10602447

rs_886044728

2 SubmittersRCV000408573 RCV000787483 RCV004816391

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

SNV
Germline

Chr1:94063180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958456

rs_143263315

6 SubmittersRCV000290027 RCV000325173 RCV000382014 RCV000339859 RCV000408477 RCV001100049 RCV001441278 RCV003258709 RCV004816390

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

SNV
Germline

Chr1:94063258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958466

rs_201602424

6 SubmittersRCV000408457 RCV000312006 RCV000298675 RCV000337235 RCV000391529 RCV001522285 RCV001100053 RCV003888651 RCV004020725

NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

SNV
Germline

Chr1:94108702

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958865

rs_201150919

6 SubmittersRCV000283229 RCV000400700 RCV000347578 RCV000377526 RCV001100157 RCV001520655 RCV003888650

NM_006017.3(PROM1):c.1632G>T (p.Gly544=)

SNV
Germline

Chr4:15998435

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866701

rs_753308387

7 SubmittersRCV000225631 RCV000488414 RCV000765765

NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)

SNV
Germline

Chr4:16009093

Pathogenic

Cone-rod dystrophy 12
Condition: not provided
Stargardt disease 4
Cone-rod dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10586321

rs_886037880

4 SubmittersRCV000240342 RCV001390399 RCV002247690 RCV002267733

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

SNV
Germline

Chr1:94077712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958501

rs_140482171

11 SubmittersRCV000264059 RCV000270788 RCV000328209 RCV001073584 RCV001102037 RCV000385092 RCV000505101 RCV000512657 RCV000844930

NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)

SNV
Germline

Chr4:15991277

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866581

rs_62617075

6 SubmittersRCV000297319 RCV000303280 RCV000356389 RCV000342856 RCV000390893 RCV004734935

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

SNV
Germline

Chr1:94078603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958570

rs_777078540

6 SubmittersRCV000388365 RCV004816512 RCV004586668 RCV005025431

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

SNV
Germline

Chr1:94060674

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958364

rs_575453437

8 SubmittersRCV000329208 RCV001074658 RCV000478104 RCV005025432 RCV004558613

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

SNV
Germline

Chr1:94043470

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA958052

rs_201855602

11 SubmittersRCV001074386 RCV004558614 RCV000412846 RCV001002835 RCV005025438 RCV005252863

NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)

SNV
Germline

Chr4:16018457

Conflicting classifications of pathogenicity

Retinitis pigmentosa
not specified
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided
Retinal dystrophy
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866931

rs_182096110

5 SubmittersRCV000303463 RCV000313919 RCV000361771 RCV000365161 RCV000400435 RCV000950665 RCV003888691 RCV004535428

NM_006017.3(PROM1):c.2271C>T (p.Ile757=)

SNV
Germline

Chr4:15985769

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866459

rs_375986111

3 SubmittersRCV000288468 RCV000352868 RCV000386501 RCV000390492 RCV000401506

NM_000350.3(ABCA4):c.*136G>A

SNV
Germline

Chr1:93993101

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10610441

rs_55665437

2 SubmittersRCV000310088 RCV000348599 RCV000393813 RCV000403289 RCV001096131 RCV001672414

NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)

SNV
Germline

Chr1:94001048

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA956899

rs_202127235

5 SubmittersRCV000294673 RCV000315923 RCV000349548 RCV000389153 RCV001424033 RCV001099679 RCV003888704

NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)

SNV
Germline

Chr1:94021333

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957429

rs_114518437

4 SubmittersRCV000301076 RCV000340669 RCV000353628 RCV000393458 RCV000486564 RCV001101750 RCV001075649

NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)

SNV
Germline

Chr1:94025010

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957556

rs_138831474

3 SubmittersRCV000310399 RCV000350024 RCV000362798 RCV000406989 RCV000488110 RCV001096332

NM_000350.3(ABCA4):c.3607+13C>T

SNV
Germline

Chr1:94040030

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957886

rs_374630957

2 SubmittersRCV000289560 RCV000293111 RCV000352695 RCV000388512 RCV001101856 RCV002059507

NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)

SNV
Germline

Chr1:94042883

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA958009

rs_775661924

2 SubmittersRCV000283211 RCV000342791 RCV000346419 RCV000377692 RCV001098163 RCV003718155

NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)

SNV
Germline

Chr1:94055181

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
ABCA4-related disorder
Stargardt Disease, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA958253

rs_138246242

2 SubmittersRCV000289234 RCV000346485 RCV000401706 RCV001096534 RCV000401493 RCV001472118

NM_000350.3(ABCA4):c.791G>A (p.Arg264His)

SNV
Germline

Chr1:94083419

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
Inborn genetic diseases
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA958722

rs_567985213

4 SubmittersRCV000286376 RCV000334279 RCV000393402 RCV000402094 RCV001241582 RCV002522135 RCV003888708

NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)

SNV
Germline

Chr1:94014597

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957287

rs_202199507

3 SubmittersRCV000262810 RCV000302869 RCV000355388 RCV000403051 RCV001099764 RCV002059506

NM_000350.3(ABCA4):c.4848+13T>C

SNV
Germline

Chr1:94021627

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957455

rs_374196141

3 SubmittersRCV000273593 RCV000314153 RCV000371133 RCV000404481 RCV001101751 RCV001413399

NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)

SNV
Germline

Chr1:94030524

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA957663

rs_142673376

5 SubmittersRCV000306201 RCV000345844 RCV000358611 RCV000408394 RCV000603618 RCV001074568 RCV001098066 RCV001515591

NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)

SNV
Germline

Chr1:94031055

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
ABCA4-related disorder
Stargardt Disease, Recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957691

rs_763857670

2 SubmittersRCV000284073 RCV000342444 RCV000400653 RCV001098070 RCV000285098 RCV002520512

NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)

SNV
Germline

Chr1:94036771

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957811

rs_75092434

3 SubmittersRCV000314607 RCV000349406 RCV000369258 RCV000406947 RCV000882442 RCV001099865

NM_000350.3(ABCA4):c.2744-5C>T

SNV
Germline

Chr1:94047098

Conflicting classifications of pathogenicity

Macular degeneration
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958166

rs_76305791

2 SubmittersRCV000263987 RCV000323753 RCV000358873 RCV000360065 RCV000897416 RCV001101953

NM_000350.3(ABCA4):c.*299G>C

SNV
Germline

Chr1:93992938

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA10611611

rs_538804441

1 SubmittersRCV000261694 RCV000283953 RCV000319142 RCV000376091 RCV001096126

NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)

SNV
Germline

Chr1:94000899

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA10611614

rs_761867791

2 SubmittersRCV000374572 RCV000280073 RCV000319805 RCV000264727 RCV001380600 RCV001099678

NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)

SNV
Germline

Chr1:94010802

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA957176

rs_191506332

5 SubmittersRCV000266769 RCV000269853 RCV000306349 RCV000361052 RCV000922637 RCV001096232 RCV003888705

NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)

SNV
Germline

Chr1:94025015

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957557

rs_774957381

2 SubmittersRCV000264287 RCV000270263 RCV000304270 RCV000361271 RCV001096333 RCV001466055

NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)

SNV
Germline

Chr1:94040103

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Stargardt Disease, Recessive
Macular degeneration
Condition: not provided
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA957897

rs_75267647

5 SubmittersRCV000261992 RCV000297212 RCV000331144 RCV000356767 RCV000894101 RCV001073731 RCV001096426

NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)

SNV
Germline

Chr1:94043463

Conflicting classifications of pathogenicity

Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611639

rs_886046565

2 SubmittersRCV000298413 RCV000334643 RCV000392686 RCV000399846 RCV001098167 RCV002520514

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

SNV
Germline

Chr1:94078627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958572

rs_770439859

5 SubmittersRCV000330893 RCV000295678 RCV000343633 RCV004816525 RCV000523526 RCV001102042 RCV000387710 RCV005429014

NM_000350.3(ABCA4):c.1240-8G>C

SNV
Germline

Chr1:94078714

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958582

rs_185225547

3 SubmittersRCV000262287 RCV000319666 RCV000354740 RCV000367371 RCV000971845 RCV001096638

NM_000350.3(ABCA4):c.468C>T (p.Ile156=)

SNV
Germline

Chr1:94103117

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Macular degeneration
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958825

rs_148091207

3 SubmittersRCV000262244 RCV000275189 RCV000330288 RCV000375450 RCV000902561 RCV001100154

NM_000350.3(ABCA4):c.5197-4C>T

SNV
Germline

Chr1:94015858

Conflicting classifications of pathogenicity

Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Macular degeneration
Stargardt Disease, Recessive
ABCA4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA957349

rs_758825834

2 SubmittersRCV000275813 RCV000315617 RCV000330641 RCV000354180 RCV001099768 RCV001850573

NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)

SNV
Germline

Chr1:94029452

Conflicting classifications of pathogenicity

Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
ABCA4-related disorder
Macular degeneration
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10611712

rs_886046564

2 SubmittersRCV000374011 RCV000263027 RCV000315841 RCV001096335 RCV000321629 RCV002520511

NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)

SNV
Germline

Chr1:94031856

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Retinitis Pigmentosa, Recessive
Cone-Rod Dystrophy, Recessive
Condition: not provided
ABCA4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA957737

rs_141004967

7 SubmittersRCV000297155 RCV000354394 RCV000337011 RCV000392768 RCV000909683 RCV001099859 RCV001699431

NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)

SNV
Germline

Chr1:94079406

Conflicting classifications of pathogenicity

Macular degeneration
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Retinitis Pigmentosa, Recessive
Condition: not provided
Retinal dystrophy
ABCA4-related disorder

Criteria Provided
Conflicting Classifications

CA958623

rs_376624031

5 SubmittersRCV000292103 RCV000326953 RCV000339971 RCV000383912 RCV000907632 RCV001075141 RCV004537688

NM_000350.3(ABCA4):c.741C>T (p.Asn247=)

SNV
Germline

Chr1:94098821

Conflicting classifications of pathogenicity

Retinitis Pigmentosa, Recessive
Stargardt Disease, Recessive
Cone-Rod Dystrophy, Recessive
Macular degeneration
ABCA4-related disorder
Condition: not provided
Late-onset cone-rod dystrophy
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA958756

rs_372976742

4 SubmittersRCV000299375 RCV000312349 RCV000337928 RCV000401167 RCV001098365 RCV002059509 RCV005418066 RCV005418065

NM_006017.3(PROM1):c.2309C>A (p.Pro770His)

SNV
Germline

Chr4:15984327

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866427

rs_568361529

3 SubmittersRCV000308984 RCV000314748 RCV000363627 RCV000393001 RCV001518533 RCV004544649

NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)

SNV
Germline

Chr4:16000583

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866747

rs_200520976

2 SubmittersRCV000291776 RCV000344405 RCV000383774 RCV000400713 RCV001510571

NM_006017.3(PROM1):c.1218C>G (p.Leu406=)

SNV
Germline

Chr4:16009032

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617341

rs_886059203

2 SubmittersRCV000295982 RCV000388013 RCV000394593 RCV000348661 RCV001504867

NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)

SNV
Germline

Chr4:16023379

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866970

rs_369815021

3 SubmittersRCV000308028 RCV000347822 RCV000369682 RCV000398824 RCV001300200 RCV003888826

NM_006017.3(PROM1):c.*1052G>A

SNV
Germline

Chr4:15968341

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10618184

rs_577484119

1 SubmittersRCV000271338 RCV000306689 RCV000328709 RCV000363732

NM_006017.3(PROM1):c.*684C>T

SNV
Germline

Chr4:15968709

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA10618194

rs_140362696

1 SubmittersRCV000278098 RCV000281713 RCV000316805 RCV000373870

NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)

SNV
Germline

Chr4:15979426

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866323

rs_201910962

3 SubmittersRCV000274437 RCV000296764 RCV000331908 RCV000388672 RCV001301011 RCV003888822

NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)

SNV
Germline

Chr4:15984352

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866434

rs_202029748

4 SubmittersRCV000274073 RCV000319916 RCV000355970 RCV000368747 RCV000839749

NM_006017.3(PROM1):c.1377C>T (p.Gly459=)

SNV
Germline

Chr4:16006615

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866789

rs_779072238

2 SubmittersRCV000295344 RCV000312842 RCV000352517 RCV000401437 RCV001861230

NM_006017.3(PROM1):c.2211+7C>T

SNV
Germline

Chr4:15985950

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866473

rs_372262346

2 SubmittersRCV000300221 RCV000312096 RCV000366791 RCV000391793 RCV001455863

NM_006017.3(PROM1):c.1683-3C>T

SNV
Germline

Chr4:15994074

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866675

rs_143470288

2 SubmittersRCV000302494 RCV000308385 RCV000348076 RCV000398666 RCV000886518

NM_006017.3(PROM1):c.1579-6T>C

SNV
Germline

Chr4:15998494

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866715

rs_181261277

4 SubmittersRCV000277946 RCV000314370 RCV000363164 RCV000369060 RCV000956181

NM_006017.3(PROM1):c.1578+9G>C

SNV
Germline

Chr4:16000487

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866728

rs_747638667

2 SubmittersRCV000261455 RCV000262727 RCV000320164 RCV000353950 RCV002057918

NM_006017.3(PROM1):c.843C>T (p.His281=)

SNV
Germline

Chr4:16018482

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866936

rs_374394451

2 SubmittersRCV000273099 RCV000276686 RCV000307126 RCV000364245 RCV002057920

NM_006017.3(PROM1):c.277-15C>T

SNV
Germline

Chr4:16035776

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2867123

rs_372599685

2 SubmittersRCV000289511 RCV000332880 RCV000381583 RCV000389815 RCV002057921

NM_006017.3(PROM1):c.181A>G (p.Ile61Val)

SNV
Germline

Chr4:16075726

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa 41

Criteria Provided
Conflicting Classifications

CA2867174

rs_201701647

4 SubmittersRCV000273204 RCV000308324 RCV000363045 RCV000400360 RCV001439949 RCV005398476

NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)

SNV
Germline

Chr4:15979399

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2866319

rs_747844753

3 SubmittersRCV000261335 RCV000318837 RCV000353914 RCV000375741 RCV001861228 RCV004955454

NM_006017.3(PROM1):c.2364C>T (p.Ile788=)

SNV
Germline

Chr4:15984272

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866416

rs_551849678

2 SubmittersRCV000283949 RCV000339031 RCV000399383 RCV000399730 RCV001442000

NM_006017.3(PROM1):c.1911+14G>A

SNV
Germline

Chr4:15992234

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866604

rs_79077926

2 SubmittersRCV000272696 RCV000309053 RCV000357535 RCV000363702 RCV001513432

NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)

SNV
Germline

Chr4:16000498

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866732

rs_201870277

5 SubmittersRCV000283728 RCV000322364 RCV000323535 RCV000594499 RCV003888823

NM_006017.3(PROM1):c.1344C>T (p.Ile448=)

SNV
Germline

Chr4:16006648

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2
Condition: not provided
Retinal dystrophy
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866795

rs_147174580

5 SubmittersRCV000297263 RCV000354443 RCV000355570 RCV000407818 RCV000998227 RCV003888824 RCV004530407

NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)

SNV
Germline

Chr4:16018362

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866910

rs_202041422

4 SubmittersRCV000282344 RCV000304480 RCV000335053 RCV000399717 RCV002057919 RCV003888825 RCV004530408

NM_006017.3(PROM1):c.792G>A (p.Lys264=)

SNV
Germline

Chr4:16018533

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866947

rs_776605111

2 SubmittersRCV000274554 RCV000317930 RCV000334145 RCV000386341 RCV003766007

NM_006017.3(PROM1):c.717C>T (p.Gly239=)

SNV
Germline

Chr4:16023393

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866976

rs_763697898

2 SubmittersRCV000266664 RCV000315947 RCV000324190 RCV000372846 RCV001454692

NM_006017.3(PROM1):c.678G>A (p.Ala226=)

SNV
Germline

Chr4:16024311

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867001

rs_187116049

3 SubmittersRCV000283971 RCV000345958 RCV000384160 RCV000376482 RCV000912093 RCV003888827

NM_006017.3(PROM1):c.276+15G>T

SNV
Germline

Chr4:16038931

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2867130

rs_766012920

1 SubmittersRCV000278099 RCV000295776 RCV000350668 RCV000394477

NM_006017.3(PROM1):c.-25T>A

SNV
Germline

Chr4:16075931

Conflicting classifications of pathogenicity

Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2867210

rs_149845694

1 SubmittersRCV000259686 RCV000313534 RCV000319521 RCV000354399

NM_022726.4(ELOVL4):c.502T>C (p.Leu168=)

SNV
Germline

Chr6:79921664

Conflicting classifications of pathogenicity

Stargardt disease 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627695

rs_886061802

3 SubmittersRCV000356888 RCV000762423

NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)

SNV
Germline

Chr6:79924970

Conflicting classifications of pathogenicity

Stargardt disease 3
Condition: not provided
Spinocerebellar ataxia type 34
Stargardt disease 3
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Inborn genetic diseases
ELOVL4-related disorder

Criteria Provided
Conflicting Classifications

CA3901551

rs_148018494

7 SubmittersRCV000262008 RCV000595647 RCV000765894 RCV002524509 RCV004737455

NM_000350.3(ABCA4):c.5898+1G>A

SNV
Germline

Chr1:94008234

Pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA16603700

rs_61750638

5 SubmittersRCV000438611 RCV001075185 RCV005055959 RCV001723980

NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)

SNV
Germline

Chr4:16009051

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa
Stargardt disease 4

Criteria Provided
Conflicting Classifications

CA2866836

rs_140682455

3 SubmittersRCV000431346 RCV001147773 RCV001147772 RCV001147774 RCV001151114

NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)

SNV
Germline

Chr1:94030454

Pathogenic

Condition: not provided
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA957653

rs_762150575

5 SubmittersRCV000480271 RCV001073593 RCV000787780 RCV005239062

NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)

SNV
Germline

Chr6:42704445

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16618285

rs_1064793931

4 SubmittersRCV000479139 RCV001250338 RCV002525801

NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)

SNV
Germline

Chr6:42721910

Conflicting classifications of pathogenicity

Condition: not provided
PRPH2-related disorder
Stargardt disease

Criteria Provided
Conflicting Classifications

CA3808615

rs_554945964

4 SubmittersRCV000486555 RCV001302351 RCV001250321

NM_000350.3(ABCA4):c.6816+2T>A

SNV
Germline

Chr1:93996107

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16621567

rs_112005636

3 SubmittersRCV000487635 RCV001199629 RCV004816698

NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)

SNV
Germline

Chr4:15991259

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa 41
Cone-rod dystrophy
Cone-rod dystrophy 12
Retinitis pigmentosa 41
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866577

rs_761911901

10 SubmittersRCV000487979 RCV000765764 RCV001199723 RCV003236583 RCV003338612 RCV004816708

NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)

SNV
Germline

Chr6:42704540

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
PRPH2-related disorder
Isolated macular dystrophy

Criteria Provided
Conflicting Classifications

CA16621838

rs_986748364

3 SubmittersRCV000487688 RCV001199524 RCV002526003 RCV001199528

NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)

SNV
Germline

Chr1:94014676

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341281507

rs_1553187939

3 SubmittersRCV000497807 RCV003324528

NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)

SNV
Germline

Chr6:79921654

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 34
Condition: not provided
Spinocerebellar ataxia type 34
Stargardt disease 3
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA364656490

rs_1554162301

4 SubmittersRCV000504460 RCV001662494 RCV005034041

NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)

SNV
Germline

Chr1:94005490

Pathogenic

Retinal dystrophy
Stargardt disease
Condition: not provided

Criteria Provided
Single Submitter

CA341278996

rs_1553186896

3 SubmittersRCV000504619 RCV000787518 RCV003558424

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

SNV
Germline

Chr1:94018445

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA26843511

rs_778234759

13 SubmittersRCV000504847 RCV000504651 RCV000787507 RCV000787508 RCV001542560 RCV001388591 RCV003324531

NM_006017.3(PROM1):c.1002+5G>A

SNV
Germline

Chr4:16018318

Conflicting classifications of pathogenicity

Retinal dystrophy
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy

Criteria Provided
Conflicting Classifications

CA550187763

rs_1196489060

3 SubmittersRCV000505134 RCV001145013 RCV001145014 RCV001146960 RCV001145015 RCV005418178

NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)

SNV
Germline

Chr6:42704570

Conflicting classifications of pathogenicity

Macular dystrophy
Stargardt disease
Condition: not provided
Patterned macular dystrophy 1
Retinal dystrophy
PRPH2-related disorder
Choroidal dystrophy, central areolar 2
Pigmentary retinal dystrophy

Criteria Provided
Conflicting Classifications

CA3808568

rs_139185976

11 SubmittersRCV000504827 RCV001250285 RCV001530240 RCV000787665 RCV001074827 RCV001051123 RCV004787813 RCV002248741

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

SNV
Germline

Chr1:94037350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA957869

rs_146786552

15 SubmittersRCV000597651 RCV001195780 RCV001101855 RCV002267738 RCV002289889 RCV002497243 RCV003235303 RCV004594081 RCV005367445 RCV004817792

NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)

SNV
Germline

Chr1:197435035

Pathogenic

Inborn genetic diseases
Stargardt disease
Leber congenital amaurosis 8
Retinitis pigmentosa 12
Leber congenital amaurosis 8
Retinitis pigmentosa 12

Criteria Provided
Multiple Submitters
No Conflicts

CA344046346

rs_564754426

5 SubmittersRCV000623037 RCV000678549 RCV001040018 RCV003451477 RCV003451476

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

SNV
Germline

Chr1:94062695

Pathogenic

Cone-rod dystrophy 3
Condition: not provided
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341279593

rs_61749412

3 SubmittersRCV000625951 RCV001239085 RCV004559256

NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)

SNV
Germline

Chr6:79926290

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 3
ELOVL4-related disorder

Criteria Provided
Conflicting Classifications

CA3901598

rs_201014417

4 SubmittersRCV000734469 RCV001164067 RCV004737993

NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)

SNV
Germline

Chr1:94024990

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA341284630

rs_1557770154

3 SubmittersRCV000761666 RCV001199616

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

SNV
Germline

Chr1:94060739

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341278906

rs_141823837

5 SubmittersRCV000786893 RCV001002840 RCV003768465 RCV005029445 RCV004817995

NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)

SNV
Germline

Chr1:94000837

Pathogenic/Likely pathogenic

Stargardt disease
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341277220

rs_1571241930

3 SubmittersRCV000787524 RCV004817999 RCV003558594

NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)

SNV
Germline

Chr1:94000861

Likely pathogenic

Stargardt disease
Retinal dystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341277276

rs_1571241947

3 SubmittersRCV000787523 RCV004817998 RCV005411562

NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)

SNV
Germline

Chr1:94001069

Pathogenic

Stargardt disease
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA956906

rs_2297669

3 SubmittersRCV000787520 RCV001380601 RCV001074913

NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)

SNV
Unknown

Chr1:94031006

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341286059

rs_1571264551

1 SubmittersRCV000787499

NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)

SNV
Germline

Chr1:94041351

Pathogenic

Stargardt disease
Condition: not provided

Criteria Provided
Single Submitter

CA341291128

rs_1570370929

2 SubmittersRCV000787496 RCV001873209

NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr6:42721857

Likely pathogenic

Retinal dystrophy
Stargardt disease
Condition: not provided

Criteria Provided
Single Submitter

CA364137468

rs_1582780550

3 SubmittersRCV000787662 RCV001250328 RCV001530345

NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)

SNV
Unknown

Chr11:61959973

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA380846247

rs_1591303900

1 SubmittersRCV000787536

NM_000554.6(CRX):c.827G>A (p.Trp276Ter)

SNV
Unknown

Chr19:47839894

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA406631879

rs_1599992622

1 SubmittersRCV000787588

NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)

SNV
Germline

Chr1:94031837

Pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

CA957733

rs_754899711

3 SubmittersRCV001235117 RCV000787903 RCV005240568

NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)

SNV
Germline

Chr1:94046942

Likely pathogenic

Stargardt disease
Retinal dystrophy

Criteria Provided
Single Submitter

CA341275328

rs_1570377861

2 SubmittersRCV000787765 RCV001074143

NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)

SNV
Germline

Chr11:61951901

Likely pathogenic

Stargardt disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA380831709

rs_1591266591

3 SubmittersRCV000787797 RCV001338345

NM_006017.3(PROM1):c.1911+8G>A

SNV
Germline

Chr4:15992240

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12
Stargardt disease 4
Retinal macular dystrophy type 2

Criteria Provided
Conflicting Classifications

CA2866608

rs_370302107

3 SubmittersRCV000787863 RCV000895051 RCV001146547 RCV001146548 RCV001149316

NM_006017.3(PROM1):c.2112C>T (p.Arg704=)

SNV
Germline

Chr4:15987681

Conflicting classifications of pathogenicity

Stargardt disease
Condition: not provided
Retinitis pigmentosa
Stargardt disease 4
Retinal macular dystrophy type 2
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866506

rs_375358457

3 SubmittersRCV000844932 RCV000908779 RCV001146427 RCV001146424 RCV001146425 RCV001146426

NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)

SNV
Germline

Chr6:42721852

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease
PRPH2-related disorder

Criteria Provided
Conflicting Classifications

CA3808606

rs_76989855

5 SubmittersRCV001530346 RCV001250329 RCV000878664

NM_006017.3(PROM1):c.1751A>G (p.His584Arg)

SNV
Germline

Chr4:15994003

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866653

rs_140027620

3 SubmittersRCV000969187 RCV001150810 RCV001150811 RCV001150812 RCV001150809 RCV004535951

NM_006017.3(PROM1):c.714A>G (p.Gly238=)

SNV
Germline

Chr4:16023396

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12
Stargardt disease 4
PROM1-related disorder

Criteria Provided
Conflicting Classifications

CA2866977

rs_201662148

4 SubmittersRCV000890690 RCV001000892 RCV001147063 RCV001147062 RCV001147060 RCV001147061 RCV004735870

NM_006017.3(PROM1):c.1279T>C (p.Leu427=)

SNV
Germline

Chr4:16008971

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866822

rs_200710798

2 SubmittersRCV001144915 RCV001144917 RCV001144916 RCV000935482 RCV001146867

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

SNV
Germline

Chr1:94062668

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341279484

rs_1557787473

4 SubmittersRCV001002841 RCV000986370 RCV001858641

NM_006017.3(PROM1):c.1984-1G>T

SNV
Germline

Chr4:15989825

Pathogenic

Retinitis pigmentosa 41
Condition: not provided
Stargardt disease
PROM1-related disorder
Cone-rod dystrophy
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2866549

rs_373680665

6 SubmittersRCV000987420 RCV001049161 RCV002467454 RCV004536013 RCV003324540 RCV003324541

NM_006017.3(PROM1):c.784+1G>A

SNV
Germline

Chr4:16023325

Pathogenic/Likely pathogenic

Retinitis pigmentosa 41
Condition: not provided
Retinal dystrophy
Stargardt disease
Leber congenital amaurosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2866962

rs_745704627

5 SubmittersRCV000987424 RCV001047807 RCV001075553 RCV002466264 RCV003324543

NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)

SNV
Germline

Chr1:94008812

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341280337

rs_1208195953

4 SubmittersRCV000994034 RCV001199625 RCV004818106

NM_006017.3(PROM1):c.1142-1G>A

SNV
Germline

Chr4:16009109

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease 4
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinal dystrophy
Retinal macular dystrophy type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA2866849

rs_752619497

7 SubmittersRCV000998228 RCV002497313 RCV001352977 RCV001075075 RCV003987756

NM_006017.3(PROM1):c.677C>T (p.Ala226Val)

SNV
Germline

Chr4:16024312

Conflicting classifications of pathogenicity

Condition: not provided
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa

Criteria Provided
Conflicting Classifications

CA2867002

rs_376198840

3 SubmittersRCV000998230 RCV001149511 RCV001147961 RCV001147962 RCV001147963

NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)

SNV
Germline

Chr1:94014623

Pathogenic

Stargardt disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341281397

rs_1571252997

3 SubmittersRCV001002814 RCV001035476

NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)

SNV
Germline

Chr1:94014652

Pathogenic

Stargardt disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA957294

rs_746252741

3 SubmittersRCV001002815 RCV003769391

NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)

SNV
Germline

Chr1:94019609

Pathogenic

Stargardt disease
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341282564

rs_1437993640

3 SubmittersRCV001002820 RCV001388592 RCV004818134

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

SNV
Germline

Chr1:94021404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA957438

rs_61752439

5 SubmittersRCV001002824 RCV001074894 RCV001216794 RCV004563619

NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)

SNV
Germline

Chr1:94063114

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341279874

rs_1570393727

1 SubmittersRCV001002842

NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)

SNV
Germline

Chr1:94103133

Conflicting classifications of pathogenicity

Stargardt disease
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA26891178

rs_1012017728

3 SubmittersRCV001002847 RCV001860519 RCV004818135

NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)

SNV
Germline

Chr1:94111498

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341285471

rs_1570433137

1 SubmittersRCV001002848

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

SNV
Germline

Chr1:94030527

Likely pathogenic

Stargardt disease
Retinal dystrophy

Criteria Provided
Single Submitter

CA341285971

rs_886044740

2 SubmittersRCV001002830 RCV001074402

NM_001844.5(COL2A1):c.1527+135G>A

SNV
Germline

Chr12:47986201

Pathogenic

Stargardt disease
Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA915948787

rs_1592218346

4 SubmittersRCV001002986 RCV001571488 RCV005253675

NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)

SNV
Germline

Chr6:35503760

Pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA363779290

rs_1761021773

3 SubmittersRCV001093077 RCV001199560 RCV004818157

NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)

SNV
Germline

Chr1:94055302

Pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy

Criteria Provided
Single Submitter

CA958275

rs_542919944

3 SubmittersRCV001064178 RCV002469338 RCV004813678

NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)

SNV
Germline

Chr1:94063280

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA958469

rs_145718830

4 SubmittersRCV001045652 RCV005429299

NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)

SNV
Germline

Chr4:16009098

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866846

rs_201748228

3 SubmittersRCV001044541 RCV001151119 RCV001151120 RCV001151121 RCV001145008

NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)

SNV
Germline

Chr6:42704510

Likely pathogenic

PRPH2-related disorder
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3808552

rs_369507460

3 SubmittersRCV001051591 RCV001250315 RCV001250332 RCV001530252

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

SNV
Germline

Chr1:94021846

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957488

rs_751844313

5 SubmittersRCV001075350 RCV001340257 RCV004017784 RCV004564577

NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)

SNV
Germline

Chr1:94055128

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Stargardt disease 3

Criteria Provided
Conflicting Classifications

CA958244

rs_768435443

4 SubmittersRCV001075787 RCV003117742 RCV004559904

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

SNV
Germline

Chr1:94080709

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA958686

rs_781716640

7 SubmittersRCV001074574 RCV001268174 RCV001729794 RCV004559903

NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)

SNV
Germline

Chr4:15984309

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided
Stargardt disease 4
Retinitis pigmentosa 41
Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Retinitis pigmentosa 41

Criteria Provided
Conflicting Classifications

CA92574710

rs_1033920857

4 SubmittersRCV001073905 RCV001862810 RCV002489720 RCV001376252

NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)

SNV
Germline

Chr6:42704485

Pathogenic/Likely pathogenic

Retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Stargardt disease
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364135198

rs_61755813

5 SubmittersRCV001075315 RCV001250333 RCV001250334 RCV001386137 RCV001530324

NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)

SNV
Germline

Chr6:42704528

Conflicting classifications of pathogenicity

Retinal dystrophy
PRPH2-related disorder
Stargardt disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA364135446

rs_1442844778

4 SubmittersRCV001075038 RCV001228233 RCV001250313 RCV001530249

NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)

SNV
Germline

Chr6:42722089

Pathogenic/Likely pathogenic

Retinal dystrophy
Stargardt disease
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364138153

rs_1242862941

4 SubmittersRCV001073624 RCV001250293 RCV001530300 RCV001862510

NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)

SNV
Germline

Chr4:15980426

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866380

rs_146434364

3 SubmittersRCV001150066 RCV001150067 RCV001150068 RCV001150069 RCV001326315 RCV003890308

NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)

SNV
Germline

Chr4:15987699

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy 12
Condition: not provided
PROM1-related disorder
Optic atrophy

Criteria Provided
Conflicting Classifications

CA2866509

rs_199727800

4 SubmittersRCV001146429 RCV001146428 RCV001146430 RCV001149203 RCV001229010 RCV004734032 RCV004813801

NM_006017.3(PROM1):c.1738A>C (p.Asn580His)

SNV
Germline

Chr4:15994016

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided
Retinal macular dystrophy type 2
Stargardt disease 4
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866657

rs_199674847

4 SubmittersRCV001144700 RCV001150815 RCV001300999 RCV001150814 RCV001150813 RCV003890296

NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)

SNV
Germline

Chr4:15994044

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866666

rs_201644238

3 SubmittersRCV001144701 RCV001144702 RCV001144703 RCV001146664 RCV002557089 RCV003890297

NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)

SNV
Germline

Chr4:16000606

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866750

rs_536622788

3 SubmittersRCV001144802 RCV001144803 RCV001144804 RCV001146761 RCV001326038 RCV003890298

NM_006017.3(PROM1):c.1407G>A (p.Pro469=)

SNV
Germline

Chr4:16006585

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866780

rs_763710252

3 SubmittersRCV001146762 RCV001146764 RCV001146765 RCV001146763 RCV001442163 RCV003890301

NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)

SNV
Germline

Chr4:16009055

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2866838

rs_770268627

3 SubmittersRCV001151115 RCV001151117 RCV001151116 RCV001151118 RCV001858986 RCV005463272

NM_006017.3(PROM1):c.706G>A (p.Val236Met)

SNV
Germline

Chr4:16023404

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2866978

rs_536161084

3 SubmittersRCV001147064 RCV001147066 RCV001147065 RCV001147960 RCV001234845 RCV003890302

NM_006017.3(PROM1):c.376G>A (p.Val126Met)

SNV
Germline

Chr4:16033437

Conflicting classifications of pathogenicity

Retinal macular dystrophy type 2
Cone-rod dystrophy 12
Stargardt disease 4
Retinitis pigmentosa
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867082

rs_199556426

4 SubmittersRCV001147175 RCV001147176 RCV001147173 RCV001147174 RCV001241210 RCV004813803

NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)

SNV
Germline

Chr4:16075749

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided
Retinal dystrophy

Criteria Provided
Conflicting Classifications

CA2867180

rs_755064227

3 SubmittersRCV001145315 RCV001145317 RCV001145316 RCV001147260 RCV001366102 RCV003890299

NM_006017.3(PROM1):c.2582+9A>C

SNV
Germline

Chr4:15979386

Conflicting classifications of pathogenicity

Stargardt disease 4
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866317

rs_200033458

2 SubmittersRCV001145614 RCV001145615 RCV001145728 RCV001145616 RCV002557115

NM_006017.3(PROM1):c.1579-12A>C

SNV
Germline

Chr4:15998500

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Retinitis pigmentosa
Stargardt disease 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2866716

rs_370183490

2 SubmittersRCV001147571 RCV001147573 RCV001147572 RCV001147574 RCV002070791

NM_006017.3(PROM1):c.1301+11C>A

SNV
Germline

Chr4:16008938

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866815

rs_189953160

1 SubmittersRCV001144910 RCV001151004 RCV001151005 RCV001151006

NM_006017.3(PROM1):c.1301+10T>A

SNV
Germline

Chr4:16008939

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12

Criteria Provided
Conflicting Classifications

CA2866816

rs_192338518

1 SubmittersRCV001144911 RCV001144912 RCV001144913 RCV001144914

NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)

SNV
Germline

Chr6:79916818

Conflicting classifications of pathogenicity

Stargardt disease 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3901467

rs_769435926

2 SubmittersRCV001162053 RCV002558546

NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)

SNV
Germline

Chr6:79925010

Conflicting classifications of pathogenicity

Stargardt disease 3
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3901559

rs_200915130

4 SubmittersRCV001164066 RCV001220954 RCV002559572

NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)

SNV
Germline

Chr4:16023376

Pathogenic

Stargardt disease 4

No Assertion Criteria Provided

CA356422832

rs_1730403199

1 SubmittersRCV001199380

NM_000322.5(PRPH2):c.582-1G>A

SNV
Germline

Chr6:42704612

Pathogenic/Likely pathogenic

Stargardt disease
Retinal dystrophy
PRPH2-related disorder
Condition: not provided
Choroideremia

Criteria Provided
Multiple Submitters
No Conflicts

CA364135897

rs_1800118693

5 SubmittersRCV001250354 RCV004813889 RCV001212443 RCV001530353 RCV005419038

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

SNV
Germline

Chr1:94001082

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA956910

rs_568627877

3 SubmittersRCV001240517 RCV004562083 RCV005057139

NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)

SNV
Germline

Chr1:94046932

Pathogenic

Condition: not provided
Stargardt disease 3

Criteria Provided
Single Submitter

CA341275309

rs_1660700260

2 SubmittersRCV001247612 RCV004557489

NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)

SNV
Germline

Chr1:94098827

Pathogenic/Likely pathogenic

Condition: not provided
Cone-rod dystrophy 3
Stargardt disease 3

Criteria Provided
Multiple Submitters
No Conflicts

CA341289018

rs_1662208035

4 SubmittersRCV001240591 RCV001352995 RCV004557479

NM_000350.3(ABCA4):c.2382+1G>A

SNV
Germline

Chr1:94056600

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341277650

rs_1660983058

3 SubmittersRCV001235513 RCV005419046

NM_201548.5(CERKL):c.678-1G>A

SNV
Germline

Chr2:181558709

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinitis pigmentosa 26

Criteria Provided
Multiple Submitters
No Conflicts

CA349741159

rs_1209393896

3 SubmittersRCV001242249 RCV002466648 RCV003469461

NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)

SNV
Germline

Chr6:42704551

Pathogenic/Likely pathogenic

Stargardt disease
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364135565

rs_1388865786

3 SubmittersRCV001250310 RCV001387192 RCV001530363

NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)

SNV
Germline

Chr6:42704555

Pathogenic

Stargardt disease
Condition: not provided
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135589

rs_61755803

3 SubmittersRCV001250307 RCV001530361 RCV002568706

NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)

SNV
Germline

Chr6:42704581

Pathogenic

Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Stargardt disease
PRPH2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA364135723

rs_1554269081

2 SubmittersRCV001250281 RCV001250282 RCV001250373 RCV001879779

NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)

SNV
Germline

Chr6:42721955

Conflicting classifications of pathogenicity

Stargardt disease
Cone-rod dystrophy
PRPH2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3808625

rs_543703718

3 SubmittersRCV001250302 RCV001250301 RCV001400129 RCV001530280

NM_000322.5(PRPH2):c.828+2T>C

SNV
Germline

Chr6:42704363

Pathogenic/Likely pathogenic

Stargardt disease
PRPH2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA364134529

rs_1800108496

3 SubmittersRCV001250343 RCV001301121 RCV001530260

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

SNV
Germline

Chr1:94010823

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341280743

rs_771092150

3 SubmittersRCV001296443 RCV001352990 RCV005236773

NM_000350.3(ABCA4):c.95C>T (p.Pro32Leu)

SNV
Germline

Chr1:94113038

Pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341286731

rs_1428504985

2 SubmittersRCV001378487 RCV005432697

NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr4:15989785

Pathogenic

Condition: not provided
Stargardt disease
Cone-rod dystrophy 12
Retinitis pigmentosa 41

Criteria Provided
Multiple Submitters
No Conflicts

CA356430225

rs_1324631413

3 SubmittersRCV001383295 RCV002466268 RCV005253830

NM_000350.3(ABCA4):c.2383-13C>T

SNV
Germline

Chr1:94055328

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA958279

rs_56026711

3 SubmittersRCV001497832 RCV005419156

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

SNV
Germline

Chr1:94001080

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341277582

rs_2100994049

3 SubmittersRCV001526707 RCV002469401 RCV002568845

NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)

SNV
Germline

Chr14:67727139

Likely pathogenic

Stargardt disease

Criteria Provided
Single Submitter

CA390151468

rs_2140145566

1 SubmittersRCV001591834

NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val)

SNV
Germline

Chr1:94060628

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA341278608

rs_942734318

2 SubmittersRCV001588599 RCV005237938

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

SNV
Germline

Chr1:94011268

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA26838213

rs_200849015

5 SubmittersRCV001682640 RCV004587194 RCV005023215

NM_000350.3(ABCA4):c.3814-2A>T

SNV
Germline

Chr1:94036790

Pathogenic

Retinitis pigmentosa 19
Stargardt disease

Criteria Provided
Single Submitter

CA341288468

rs_1660350150

2 SubmittersRCV001808133 RCV002468642

NM_000350.3(ABCA4):c.1555-2A>C

SNV
Germline

Chr1:94063319

Likely pathogenic

Stargardt disease

Criteria Provided
Single Submitter

CA341280680

rs_2101079462

1 SubmittersRCV001839464

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

SNV
Germline

Chr1:94055149

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA26843273

rs_143797418

4 SubmittersRCV001894361 RCV004815672 RCV004797959 RCV005409042

NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter)

SNV
Germline

Chr1:94062748

Pathogenic

Condition: not provided
Stargardt disease 3

Criteria Provided
Single Submitter

CA341279797

rs_2101078482

2 SubmittersRCV001905717 RCV004558701

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

SNV
Germline

Chr1:94042785

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA957987

rs_138641544

5 SubmittersRCV001970179 RCV004816824 RCV005623102 RCV004587272 RCV005025523

NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)

SNV
Germline

Chr1:94031804

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341286798

rs_1183074086

3 SubmittersRCV001953886 RCV003331250 RCV004816828

NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)

SNV
Germline

Chr1:94000869

Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Single Submitter

CA341277290

rs_61750655

2 SubmittersRCV001993991 RCV002468652

NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)

SNV
Germline

Chr1:94021899

Pathogenic

Condition: not provided
Cone-rod dystrophy
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341283936

rs_1282472315

2 SubmittersRCV001963229 RCV003324576 RCV003324577

NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro)

SNV
Germline

Chr1:94055176

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341276903

rs_2101067700

2 SubmittersRCV002042109 RCV004801062

NM_000350.3(ABCA4):c.53G>A (p.Arg18Gln)

SNV
Germline

Chr1:94120993

Pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA26845219

rs_868543294

2 SubmittersRCV002042187 RCV004699498

NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)

SNV
Germline

Chr4:16006568

Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Single Submitter

CA356435156

rs_2149234796

2 SubmittersRCV001866864 RCV002466272

NM_000350.3(ABCA4):c.768+1G>A

SNV
Germline

Chr1:94098793

Pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341288696

rs_2523965353

1 SubmittersRCV002468686

NM_000350.3(ABCA4):c.3608-1G>A

SNV
Germline

Chr1:94037351

Pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341289687

rs_2523752501

1 SubmittersRCV002468911

NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)

SNV
Germline

Chr1:94030467

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA957655

rs_774582644

1 SubmittersRCV002468913

NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)

SNV
Germline

Chr1:94098873

Likely pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341289346

rs_2523965931

1 SubmittersRCV002468914

NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)

SNV
Germline

Chr1:94055245

Pathogenic

Stargardt disease

No Assertion Criteria Provided

CA341277056

rs_61750202

1 SubmittersRCV002469936

NM_000350.3(ABCA4):c.443-2A>G

SNV
Germline

Chr1:94103144

Likely pathogenic

Stargardt disease

Criteria Provided
Single Submitter

CA341291472

rs_2523980607

1 SubmittersRCV002471760

NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)

SNV
Germline

Chr1:94001099

Pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341277622

rs_1166357291

2 SubmittersRCV002664166 RCV005419575

NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)

SNV
Germline

Chr1:94121044

Pathogenic/Likely pathogenic

Condition: not provided
Stargardt disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341289047

rs_1662938116

2 SubmittersRCV002648183 RCV003324587

NM_000350.3(ABCA4):c.4254-5T>A

SNV
Germline

Chr1:94030531

Conflicting classifications of pathogenicity

Condition: not provided
Stargardt disease

Criteria Provided
Conflicting Classifications

CA2574438365

rs_886044551

2 SubmittersRCV002872475 RCV005239521

NM_000350.3(ABCA4):c.769-784C>T

SNV
Germline

Chr1:94084225

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA26874240

rs_144695319

6 SubmittersRCV003326754 RCV004818324 RCV004818325 RCV005406664 RCV004529625

NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)

SNV
Germline

Chr1:94014652

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341281459

rs_746252741

2 SubmittersRCV004526446 RCV005023562

NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)

SNV
Germline

Chr1:94111475

Pathogenic

Stargardt disease 3
Retinitis pigmentosa 19

Criteria Provided
Single Submitter

rs_1662601425

2 SubmittersRCV004560356 RCV005254906

NM_006017.3(PROM1):c.2378T>A (p.Leu793Ter)

SNV
Germline

Chr4:15980533

Pathogenic/Likely pathogenic

Stargardt disease 4
Retinal dystrophy

No Assertion Criteria Provided

2 SubmittersRCV005412666 RCV004814276

NM_006017.3(PROM1):c.1984-1G>A

SNV
Unknown

Chr4:15989825

Likely pathogenic

Retinal macular dystrophy type 2
Stargardt disease 4
Cone-rod dystrophy 12

Criteria Provided
Single Submitter

rs_373680665

1 SubmittersRCV004586423

NM_000350.3(ABCA4):c.5329A>G (p.Met1777Val)

SNV
Germline

Chr1:94014674

Conflicting classifications of pathogenicity

Cone dystrophy and rod monochromatism
Stargardt disease

Criteria Provided
Conflicting Classifications

1 SubmittersRCV005419838 RCV005419837