ClinVar Miner

Variants with conflicting interpretations studied for Aortic aneurysm, familial thoracic 4

Coded as:
Minimum review status of the submission for Aortic aneurysm, familial thoracic 4: Y axis collection method of the submission for Aortic aneurysm, familial thoracic 4:
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
151 96 0 76 69 1 7 128

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
Aortic aneurysm, familial thoracic 4 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 2 2 0 0 1
uncertain significance 1 6 0 24 8 0
likely benign 0 1 38 0 37 0
benign 0 0 20 50 0 0

Condition to condition summary #

Total conditions: 16
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
Thoracic aortic aneurysm and aortic dissection 0 51 0 44 44 0 4 80
not specified 0 70 0 43 15 0 1 58
Cardiovascular phenotype 0 72 0 23 17 0 1 40
not provided 0 49 0 10 18 0 1 28
Aortic aneurysm, familial thoracic 4 321 31 0 13 9 0 1 23
Lissencephaly, Recessive 0 12 0 5 14 0 0 19
Connective tissue disorder 0 10 0 8 10 0 0 18
Familial aortopathy 0 3 0 2 0 0 2 4
Altered myosin contractile function 0 0 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 6 0 1 0 1 0 0 0 1
Coronary heart disease 7 0 0 0 0 0 1 0 1
Deafness, autosomal recessive 63 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 0 1
Loeys-Dietz syndrome 0 0 0 0 1 0 0 1
Marfan syndrome 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 128
Download table as spreadsheet
MYH11:c.503-14_503-12del rs141564071
Multiple alleles
NM_001040113.1(MYH11):c.-17G>C rs767563168
NM_001040113.1(MYH11):c.1365T>C (p.His455=) rs549593465
NM_001040113.1(MYH11):c.1934C>T (p.Ser645Leu) rs771128441
NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys) rs111404182
NM_001040113.1(MYH11):c.2070C>T (p.His690=) rs150924100
NM_001040113.1(MYH11):c.2914G>T (p.Ala972Ser) rs113696032
NM_001040113.1(MYH11):c.300C>T (p.Ser100=) rs111662326
NM_001040113.1(MYH11):c.3123T>C (p.Ser1041=) rs181744522
NM_001040113.1(MYH11):c.3249G>A (p.Ala1083=) rs773672888
NM_001040113.1(MYH11):c.3672+5_3672+11delTGCTTTTinsG rs371843272
NM_001040113.1(MYH11):c.3672+7_3672+11delCTTTT rs369806813
NM_001040113.1(MYH11):c.3918C>T (p.Ala1306=) rs190546350
NM_001040113.1(MYH11):c.3984+6T>C rs373371913
NM_001040113.1(MYH11):c.3988C>T (p.Leu1330=) rs12907
NM_001040113.1(MYH11):c.4137+11delC rs543763112
NM_001040113.1(MYH11):c.4218G>A (p.Lys1406=) rs113302393
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040113.1(MYH11):c.4422C>T (p.Tyr1474=) rs8046180
NM_001040113.1(MYH11):c.444C>T (p.His148=) rs569925780
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5294G>A (p.Arg1765Gln) rs142546324
NM_001040113.1(MYH11):c.5317-4C>T rs183176702
NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) rs201960644
NM_001040113.1(MYH11):c.5717A>G (p.Asn1906Ser) rs79129097
NM_001040113.1(MYH11):c.5753C>T (p.Thr1918Met) rs748516947
NM_001040113.1(MYH11):c.5808-9_5808-8delCT rs747642850
NM_001040113.1(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.1(MYH11):c.5819dupC (p.Gln1941Thrfs) rs747392139
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001040114.1(MYH11):c.3254T>C (p.Ile1085Thr) rs193922629
NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) rs730880147
NM_001040114.1(MYH11):c.4694C>T (p.Thr1565Met) rs111854563
NM_001143979.1(NDE1):c.948-4894G>A rs771742318
NM_001143979.1(NDE1):c.948-5807C>G rs144421849
NM_001143979.1(NDE1):c.948-5828C>T rs757501817
NM_001143979.1(NDE1):c.948-5858G>A rs112564682
NM_001143979.1(NDE1):c.948-6833A>G rs111858392
NM_001143979.1(NDE1):c.948-6917G>A rs35295469
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001143979.1(NDE1):c.948-9103C>T rs202120792
NM_002474.2(MYH11):c.1017C>T (p.Ser339=) rs112161189
NM_002474.2(MYH11):c.1056G>A (p.Ser352=) rs201256839
NM_002474.2(MYH11):c.1212G>C (p.Gly404=) rs201198815
NM_002474.2(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.2(MYH11):c.135C>T (p.Phe45=) rs28570191
NM_002474.2(MYH11):c.1419G>A (p.Gln473=) rs61734198
NM_002474.2(MYH11):c.1502G>A (p.Arg501His) rs144244239
NM_002474.2(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.2(MYH11):c.1575+3G>A rs377632137
NM_002474.2(MYH11):c.1575+7G>A rs754750176
NM_002474.2(MYH11):c.1575+8delG rs769321167
NM_002474.2(MYH11):c.1732A>G (p.Ile578Val) rs111936548
NM_002474.2(MYH11):c.1848C>T (p.Ala616=) rs112834652
NM_002474.2(MYH11):c.2058+10G>A rs757874059
NM_002474.2(MYH11):c.2079C>T (p.Phe693=) rs34287137
NM_002474.2(MYH11):c.217A>C (p.Lys73Gln) rs147447269
NM_002474.2(MYH11):c.2412-9C>A rs148682361
NM_002474.2(MYH11):c.2520+17A>G rs185697714
NM_002474.2(MYH11):c.2648C>T (p.Ser883Leu) rs35035518
NM_002474.2(MYH11):c.2653-6G>A rs200637980
NM_002474.2(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.2(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.2(MYH11):c.2961C>T (p.Ile987=) rs137988790
NM_002474.2(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.2(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865
NM_002474.2(MYH11):c.3168G>A (p.Leu1056=) rs113089286
NM_002474.2(MYH11):c.3291C>T (p.Ala1097=) rs147605116
NM_002474.2(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860
NM_002474.2(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.2(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001
NM_002474.2(MYH11):c.3651+6_3651+11delGCTTTT rs371843272
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.2(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.2(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.2(MYH11):c.387A>G (p.Lys129=) rs78754138
NM_002474.2(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.2(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906
NM_002474.2(MYH11):c.405G>A (p.Ser135=) rs375649016
NM_002474.2(MYH11):c.4095C>T (p.His1365=) rs374454281
NM_002474.2(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.2(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954
NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.2(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.2(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.2(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.2(MYH11):c.4578+3A>G rs143288748
NM_002474.2(MYH11):c.4579-14C>T rs377410503
NM_002474.2(MYH11):c.4579-6C>T rs200223639
NM_002474.2(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.2(MYH11):c.471C>T (p.Ile157=) rs140267000
NM_002474.2(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.2(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.2(MYH11):c.4791+4C>T rs142108062
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.2(MYH11):c.503-9T>C rs554607161
NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.2(MYH11):c.5172-14C>T rs34839877
NM_002474.2(MYH11):c.5172-5C>T rs574893374
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.2(MYH11):c.5313C>T (p.Asn1771=) rs190675029
NM_002474.2(MYH11):c.546C>T (p.Ala182=) rs113577450
NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.2(MYH11):c.5504+8G>C rs148691719
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.2(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.2(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
NM_002474.2(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.2(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.2(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.2(MYH11):c.57C>T (p.Asn19=) rs148464745
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.2(MYH11):c.633+1942T>C rs199755371
NM_002474.2(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002474.2(MYH11):c.987C>T (p.Thr329=) rs4781689
NM_002474.2(MYH11):c.988G>A (p.Val330Met) rs368938309
NM_022844.2(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_022844.2(MYH11):c.5787-11_5787-8delCTCT rs747642850

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