ClinVar Miner

Variants with conflicting interpretations studied for Juvenile polyposis syndrome

Coded as:
Minimum review status of the submission for Juvenile polyposis syndrome: Y axis collection method of the submission for Juvenile polyposis syndrome:
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
353 294 8 44 52 0 9 103

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
Juvenile polyposis syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 6 4 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 2 4 4 30 5
likely benign 0 0 30 0 20
benign 0 0 2 18 1

Condition to condition summary #

Total conditions: 25
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
Hereditary cancer-predisposing syndrome 0 279 2 23 32 0 4 59
not provided 0 110 6 19 22 0 3 44
not specified 0 77 0 22 20 0 0 39
Juvenile Polyposis 0 5 0 10 8 0 0 17
Juvenile polyposis syndrome 681 53 3 4 9 0 1 16
Myhre syndrome 0 3 0 4 5 0 0 9
Osler hemorrhagic telangiectasia syndrome 0 1 0 3 5 0 0 8
Cardiovascular phenotype 0 9 0 3 3 0 0 6
Adenocarcinoma of stomach 0 1 0 2 0 0 0 2
Carcinoma of esophagus 0 1 0 2 0 0 0 2
Gastrointestinal polyposis 0 0 0 1 1 0 0 2
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 5 2 0 0 0 0 2
Lung adenocarcinoma 0 1 0 2 0 0 0 2
Neoplasm of the breast 0 1 0 2 0 0 0 2
Pancreatic adenocarcinoma 0 1 0 2 0 0 0 2
Squamous cell carcinoma of the head and neck 0 1 0 2 0 0 0 2
Uterine cervical neoplasms 0 1 0 2 0 0 0 2
BMPR1A Skeletal Dysplasia Syndrome 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 1 0 0 0 1
JP and JP/HHT 0 1 0 1 0 0 0 1
JP, JP/HHT, and HHT 0 0 1 0 0 0 0 1
Juvenile polyposis syndrome; Hereditary mixed polyposis syndrome 2 0 3 0 0 1 0 0 1
Myhre syndrome; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 0 9 1 0 0 0 0 1
Neoplasm of the large intestine 0 3 1 0 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP
NM_004329.2(BMPR1A):c.1013C>A (p.Ala338Asp) rs199476086
NM_004329.2(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407
NM_004329.2(BMPR1A):c.1068C>T (p.Pro356=) rs759520915
NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) rs35572415
NM_004329.2(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.2(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.2(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) rs150946485
NM_004329.2(BMPR1A):c.12A>G (p.Leu4=) rs772729006
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1342+6A>G rs55763614
NM_004329.2(BMPR1A):c.1343-3T>C rs771504880
NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) rs55932635
NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) rs55845713
NM_004329.2(BMPR1A):c.1398A>C (p.Ser466=) rs56410735
NM_004329.2(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.2(BMPR1A):c.1474-10T>C rs369633360
NM_004329.2(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.2(BMPR1A):c.1536C>T (p.Leu512=) rs758796892
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248
NM_004329.2(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.2(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.230+3A>G rs1060503393
NM_004329.2(BMPR1A):c.231-9C>T rs763313220
NM_004329.2(BMPR1A):c.27A>G (p.Arg9=) rs751420248
NM_004329.2(BMPR1A):c.334-4T>G rs1060504904
NM_004329.2(BMPR1A):c.370T>C (p.Cys124Arg) rs199476087
NM_004329.2(BMPR1A):c.415C>T (p.Pro139Ser) rs772163112
NM_004329.2(BMPR1A):c.431-5G>A rs587782334
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) rs200951235
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272
NM_004329.2(BMPR1A):c.59G>A (p.Arg20His) rs759014147
NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) rs55992440
NM_004329.2(BMPR1A):c.676-4A>G rs929042482
NM_004329.2(BMPR1A):c.676-5T>C rs200537780
NM_004329.2(BMPR1A):c.676-6A>C rs186999445
NM_004329.2(BMPR1A):c.682C>A (p.Arg228=) rs587782682
NM_004329.2(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018
NM_004329.2(BMPR1A):c.749T>C (p.Met250Thr) rs587780783
NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578
NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) rs56108371
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004329.2(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490
NM_005359.5(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1098A>G (p.Gln366=) rs990054989
NM_005359.5(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.5(SMAD4):c.1140-3A>C rs956212866
NM_005359.5(SMAD4):c.1155A>G (p.Lys385=) rs752938351
NM_005359.5(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.5(SMAD4):c.1422A>C (p.Ser474=) rs786201261
NM_005359.5(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.5(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1608A>G (p.Leu536=) rs753128184
NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) rs756795016
NM_005359.5(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.5(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.5(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.5(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.5(SMAD4):c.249+10A>C rs752243771
NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) rs1060500739
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.366A>G (p.Lys122=) rs1057524633
NM_005359.5(SMAD4):c.372T>C (p.Asp124=) rs1555685178
NM_005359.5(SMAD4):c.390A>G (p.Pro130=) rs755862230
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.425-6A>G rs377767327
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.471G>A (p.Met157Ile) rs780716382
NM_005359.5(SMAD4):c.49C>T (p.Leu17=) rs1555684997
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.5(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.5(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.668-6C>G rs748992694
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.5(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.5(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.5(SMAD4):c.904+14T>C rs200973136
NM_005359.5(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.5(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.5(SMAD4):c.956-4A>G rs1295343500
NM_005359.5(SMAD4):c.970T>C (p.Cys324Arg) rs377767339
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324

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