ClinVar Miner

Variants with conflicting interpretations studied for Familial hypobetalipoproteinemia

Coded as:
Minimum review status of the submission for Familial hypobetalipoproteinemia: Y axis collection method of the submission for Familial hypobetalipoproteinemia:
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
21 115 0 56 70 0 5 107

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
Familial hypobetalipoproteinemia pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 3 0 44 18
likely benign 2 0 23 0 56

Condition to condition summary #

Total conditions: 9
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
Familial hypercholesterolemias 0 14 0 33 32 0 2 67
Familial hypercholesterolemia 0 160 0 42 35 0 5 62
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 0 3 0 28 31 0 1 60
not specified 0 3 0 42 13 0 0 55
Hypercholesterolemia, autosomal dominant, 3 0 1 0 17 4 0 1 21
not provided 0 4 0 15 0 0 1 16
Hypercholesterolemia 0 0 0 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 0 0 0 1 1
Hypobetalipoproteinemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 107
Download table as spreadsheet
HGVS dbSNP
NM_000384.2(APOB):c.*11G>T rs72654428
NM_000384.2(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.2(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.2(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.2(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.2(APOB):c.11362G>A (p.Glu3788Lys) rs13306191
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.2(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.2(APOB):c.11904-15T>A rs370325726
NM_000384.2(APOB):c.11904-7C>T rs12720851
NM_000384.2(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.2(APOB):c.12024C>T (p.Thr4008=) rs145269223
NM_000384.2(APOB):c.12088-13dupT rs751121092
NM_000384.2(APOB):c.12088-14T>C rs182329513
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.2(APOB):c.12444C>A (p.Ala4148=) rs757789853
NM_000384.2(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.2(APOB):c.129G>C (p.Ala43=) rs12720850
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.2(APOB):c.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.2(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.2(APOB):c.1353-12C>T rs76202659
NM_000384.2(APOB):c.1470+15T>C rs185550846
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.2(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2244+3G>A rs12714189
NM_000384.2(APOB):c.2604+15G>C rs72653066
NM_000384.2(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.2(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.2(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.2(APOB):c.285C>A (p.Ser95Arg) rs143613534
NM_000384.2(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.2(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.2(APOB):c.3122-6G>A rs72653071
NM_000384.2(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.2(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.2(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.2(APOB):c.3509-10G>A rs12720770
NM_000384.2(APOB):c.3509-11C>T rs200768300
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.2(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.2(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.2(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.2(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.2(APOB):c.4656T>C (p.Ser1552=) rs761580028
NM_000384.2(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.2(APOB):c.538-9C>T rs1800478
NM_000384.2(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.2(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.2(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.2(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.2(APOB):c.6656G>A (p.Arg2219His) rs200106845
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.6936C>T (p.Asp2312=) rs1041968
NM_000384.2(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.2(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.2(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.2(APOB):c.7989T>C (p.Ile2663=) rs199642915
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.2(APOB):c.83-11C>T rs372452800
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.2(APOB):c.8912A>C (p.Asn2971Thr) rs72653098
NM_000384.2(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.2(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.2(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.2(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.399+4A>G rs376653409
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867
NM_174936.3(PCSK9):c.996+8delC rs768213924

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