ClinVar Miner

Variants in gene ABCA4 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 Variants with at least 2 submissions 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 kind of conflict
603 212 4 85 24 7 45 129

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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 57 16 6 3 3 2
likely pathogenic 57 0 31 13 3 2 1
uncertain significance 16 31 0 23 8 0 1
likely benign 6 13 23 4 30 2 1
benign 3 3 8 30 0 2 1
risk factor 3 2 0 2 2 0 0
other 2 1 1 1 1 0 0

All variants with conflicting interpretations #

Total variants: 129
Download table as spreadsheet
HGVS dbSNP
NM_000350.2(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.2(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.2(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.2(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.2(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.2(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.2(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.2(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.2(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.2(ABCA4):c.2588-12C>G rs61751396
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.2(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.2(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
NM_000350.2(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.2(ABCA4):c.4253+4C>T rs61754044
NM_000350.2(ABCA4):c.4253+5G>A rs61750138
NM_000350.2(ABCA4):c.4253+5G>T rs61750138
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.2(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.2(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.2(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.2(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.4540-2036C>A rs886044743
NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.2(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4773+3A>G rs759672616
NM_000350.2(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.2(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.2(ABCA4):c.5018+2T>C rs61750562
NM_000350.2(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.2(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.2(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5584+6T>C rs61750633
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5836-3C>A rs1064793013
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.2(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.2(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.2(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.6730-19G>A rs375179475
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.2(ABCA4):c.885delC (p.Leu296Cysfs) rs764759172

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