ClinVar Miner

Variants with conflicting interpretations studied for ABCA4-Related Disorders

Coded as:
Minimum review status of the submission for ABCA4-Related Disorders: Collection method of the submission for ABCA4-Related Disorders:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
22 40 4 48 87 5 24 151

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
ABCA4-Related Disorders pathogenic likely pathogenic uncertain significance likely benign benign established risk allele pathogenic, low penetrance risk factor
pathogenic 0 5 1 1 1 0 1 2
likely pathogenic 9 0 1 0 0 0 0 0
uncertain significance 13 11 0 76 36 0 0 0
likely benign 1 0 5 4 28 1 0 2
benign 0 0 0 6 0 0 0 0

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 0 41 4 40 85 1 22 141
not specified 0 18 0 19 20 0 1 40
ABCA4-related condition 0 7 0 3 15 1 1 20
Cone-Rod Dystrophy, Recessive 0 72 0 5 12 0 0 17
Retinitis Pigmentosa, Recessive 0 73 0 5 12 0 0 17
Stargardt Disease, Recessive 0 71 0 5 12 0 0 17
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 4 0 4
Macular dystrophy 0 2 0 2 0 0 0 2
Abnormal retinal morphology 0 1 0 0 1 0 0 1
Autosomal recessive retinitis pigmentosa 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_000350.3(ABCA4):c.*10C>A rs145634012 0.00671
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.*136G>A rs55665437 0.00448
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437 0.00425
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_000350.3(ABCA4):c.-92C>T rs200102393 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000350.3(ABCA4):c.4352+13G>A rs61754048 0.00059
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.*299G>C rs538804441 0.00048
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936 0.00046
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_000350.3(ABCA4):c.5312+11T>C rs769863517 0.00039
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.2383-12G>A rs368548294 0.00031
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr) rs368692594 0.00021
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=) rs148351929 0.00012
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242 0.00007
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00007
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.2743+12A>C rs559119402 0.00006
NM_000350.3(ABCA4):c.3523-9C>G rs374302531 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=) rs770089512 0.00004
NM_000350.3(ABCA4):c.4128+12G>A rs746262766 0.00004
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=) rs548431469 0.00004
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val) rs185729337 0.00004
NM_000350.3(ABCA4):c.1937+15C>T rs774567553 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136 0.00002
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=) rs767212006 0.00002
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=) rs573418899 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942 0.00002
NM_000350.3(ABCA4):c.1099+12G>T rs756258615 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=) rs201059645 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=) rs778400379 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 0.00001
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=) rs374344839 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=) rs146011912 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=) rs746070443 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr) rs201707267 0.00001
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.3051-15G>T rs200223777
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu) rs374811709
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835

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