ClinVar Miner

Variants with conflicting interpretations studied for Macular degeneration

Coded as:
Minimum review status of the submission for Macular degeneration: Y axis collection method of the submission for Macular degeneration:
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 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
264 431 4 64 51 7 18 116

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
Macular degeneration pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other
pathogenic 0 0 1 1 0 0 0 0
uncertain significance 0 2 0 13 2 0 0 0
likely benign 10 9 42 4 55 1 3 1
benign 0 0 0 12 0 1 2 0

Condition to condition summary #

Total conditions: 29
Download table as spreadsheet
Condition 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
not specified 0 27 0 54 14 0 0 66
not provided 0 39 4 10 26 0 3 42
Stargardt disease 1 0 2 0 0 4 1 10 15
Atypical hemolytic uremic syndrome 0 172 0 3 5 0 0 8
Complement component 2 deficiency 0 35 0 3 5 0 0 8
Macular degeneration 773 30 0 3 5 0 0 8
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 0 4 0 0 0 4
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 0 6 0 0 4 0 0 4
ABCA4-Related Disorders 0 2 0 0 1 0 2 3
Age-related macular degeneration 14 0 0 0 0 0 1 2 3
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B; Lung cancer; UV-sensitive syndrome; Age-related macular degeneration 5; Premature ovarian failure 11 0 0 0 0 3 0 0 3
Age-related macular degeneration 3 0 0 0 0 0 0 2 2
Cone/cone-rod dystrophy 0 0 0 0 0 0 2 2
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
Stargardt Disease, Recessive 0 100 0 0 0 0 2 2
Age-related macular degeneration 4 0 0 0 0 0 1 0 1
Age-related macular degeneration 8 0 0 0 0 0 1 0 1
Atypical hemolytic-uremic syndrome 4 0 0 0 0 1 0 0 1
Autosomal recessive cutis laxa type IA 0 0 0 0 0 0 1 1
BF*FA/S 0 0 0 1 0 0 0 1
C2-related disorders 0 0 0 0 1 0 0 1
Cockayne syndrome B 0 0 0 0 1 0 0 1
Cone-Rod Dystrophy, Recessive 0 101 0 0 1 0 0 1
Cone-rod dystrophy 3 0 0 0 0 0 0 1 1
Factor B fast/slow polymorphism 0 1 0 1 0 0 0 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 0 0 0 0 0 1 0 1
Macular dystrophy 0 1 0 0 0 0 1 1
Retinitis Pigmentosa, Recessive 0 102 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 116
Download table as spreadsheet
HGVS dbSNP
NM_000063.5(C2):c.*304A>G rs72842444
NM_000063.5(C2):c.1023G>A (p.Ala341=) rs1042663
NM_000063.5(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.5(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.5(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.5(C2):c.1902+6G>C rs9332730
NM_000063.5(C2):c.2080-8T>C rs201806170
NM_000063.5(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000064.3(C3):c.304C>G (p.Arg102Gly) rs2230199
NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.3(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.3(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.3(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523
NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) rs376624031
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.1356+5_1356+6insC rs1553193877
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.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
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.2964C>T (p.Leu988=) rs61754034
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.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.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
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.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
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.6148G>C (p.Val2050Leu) rs41292677
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.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
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_001077182.2(FSCN2):c.72delG (p.Thr25Glnfs) rs376633374
NM_001099667.2(ARMS2):c.205G>T (p.Ala69Ser) rs10490924
NM_001710.5(CFB):c.1143C>T (p.Arg381=) rs150920440
NM_001710.5(CFB):c.1365C>T (p.Val455=) rs2072634
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153
NM_002775.4(HTRA1):c.102C>T (p.Ala34=) rs1049331
NM_002775.4(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.4(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_002775.4(HTRA1):c.1221C>T (p.Asp407=) rs11538140
NM_002775.4(HTRA1):c.1274+8G>A rs2672586
NM_002775.4(HTRA1):c.59C>T (p.Ala20Val) rs369149111
NM_002775.4(HTRA1):c.753C>T (p.Ile251=) rs17624021
NM_002775.4(HTRA1):c.879C>T (p.Thr293=) rs149294320
NM_006329.3(FBLN5):c.1191G>A (p.Thr397=) rs148660796
NM_006329.3(FBLN5):c.224T>C (p.Val75Ala) rs145108467
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.502+15G>C rs190933127
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006329.3(FBLN5):c.620-8T>C rs147699855
NM_006329.3(FBLN5):c.621T>C (p.Asp207=) rs200178859
NM_031935.2(HMCN1):c.114G>T (p.Gly38=) rs115169621
NM_031935.2(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265
NM_031935.2(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728
NM_031935.2(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471
NM_031935.2(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035
NM_031935.2(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568
NM_032753.3(RAX2):c.155C>T (p.Pro52Leu) rs76076446
NM_032753.3(RAX2):c.156G>A (p.Pro52=) rs141804618
NM_032753.3(RAX2):c.432G>A (p.Ala144=) rs149918940
NM_032753.3(RAX2):c.45T>G (p.Gly15=) rs139127905

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