ClinVar Miner

Variants in gene BLM 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
560 123 12 51 43 0 4 92

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 12 19 1 0 0
likely pathogenic 19 0 4 0 0
uncertain significance 1 4 0 37 19
likely benign 0 0 37 0 32
benign 0 0 19 32 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP
NM_000057.2(BLM):c.2308-953_2555+4719del
NM_000057.2(BLM):c.2407dupT (p.Trp803Leufs) rs367543012
NM_000057.2(BLM):c.3475_3476delTT (p.Leu1159Ilefs) rs367543033
NM_000057.2(BLM):c.98+1G>T rs750293380
NM_000057.3(BLM):c.1044G>A (p.Met348Ile) rs184657475
NM_000057.3(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.3(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.3(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.3(BLM):c.1479_1480delTA (p.Thr494Profs) rs746244182
NM_000057.3(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.3(BLM):c.1544dupA (p.Asn515Lysfs) rs367543043
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.3(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.3(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.3(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.3(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.3(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.3(BLM):c.2074+1G>T rs367543036
NM_000057.3(BLM):c.2075-12G>T rs28385027
NM_000057.3(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.3(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.3(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) rs113993962
NM_000057.3(BLM):c.2250_2251insAAAT (p.Leu751Lysfs) rs786204471
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.3(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.3(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.3(BLM):c.2343_2344dupGA (p.Asn782Argfs) rs1555420842
NM_000057.3(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.2488dupA (p.Thr830Asnfs) rs367543019
NM_000057.3(BLM):c.2506_2507delAG (p.Arg836Glyfs) rs367543024
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.2555+7T>C rs3815003
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.3(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.3(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.3(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.3(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.3(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.3(BLM):c.2923delC (p.Gln975Lysfs) rs367543014
NM_000057.3(BLM):c.298_299delCA (p.Gln100Glufs) rs745807085
NM_000057.3(BLM):c.3028delG (p.Asp1010Metfs) rs780379121
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.3(BLM):c.3117A>G (p.Ile1039Met) rs576199850
NM_000057.3(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.3(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.3(BLM):c.3210+2delT rs587779886
NM_000057.3(BLM):c.3359-13A>G rs200250931
NM_000057.3(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.3(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.3(BLM):c.3558+1G>T rs148969222
NM_000057.3(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3751+10C>T rs199685140
NM_000057.3(BLM):c.3751+9A>C rs774368488
NM_000057.3(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.3(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.3(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.3(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.3(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.4077-10C>T rs145310008
NM_000057.3(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.3(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.3(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.3(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.3(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.3(BLM):c.557_559delCAA (p.Ser186_Pro521delinsTer) rs367543035
NM_000057.3(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.3(BLM):c.772_773delCT (p.Leu258Glufs) rs367543013
NM_000057.3(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.3(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.3(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.3(BLM):c.991_995delAAAGA (p.Lys331Glyfs) rs786204524
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964

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