ClinVar Miner

Variants in gene BMPR1A 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
512 205 4 24 34 0 6 62

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
pathogenic 0 5 2 0 0
likely pathogenic 5 0 4 0 0
uncertain significance 2 4 3 34 4
likely benign 0 0 34 0 19
benign 0 0 4 19 1

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_004329.2(BMPR1A):c.-137A>G rs886047360
NM_004329.2(BMPR1A):c.-14A>G rs1554886795
NM_004329.2(BMPR1A):c.-6T>C rs1047677696
NM_004329.2(BMPR1A):c.-8A>G rs546681014
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.1251G>A (p.Leu417=) rs1554891336
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.1480C>T (p.Arg494Ter) rs786201040
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.355C>T (p.Arg119Cys) rs587782494
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.530+13T>G rs367550999
NM_004329.2(BMPR1A):c.560G>A (p.Arg187His) rs189059377
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.831C>A (p.Ile277=) rs876659520
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004329.2(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490

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