ClinVar Miner

Variants in gene CBS 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
319 79 0 51 23 0 13 80

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 31 9 0 0
likely pathogenic 31 0 7 0 0
uncertain significance 9 7 0 17 10
likely benign 0 0 17 0 20
benign 0 0 10 20 0

All variants with conflicting interpretations #

Total variants: 80
Download table as spreadsheet
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000071.2(CBS):c.-85+10G>C rs886057102
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039+3G>A rs747384273
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1111G>A (p.Val371Met) rs372010465
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) rs763036586
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.2(CBS):c.1221del (p.Trp408fs) rs1361324844
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.1359-14C>T rs115185587
NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) rs121964971
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.1496_1497TC[1] (p.Ser500fs) rs1555871188
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1553-1G>C rs1555869979
NM_000071.2(CBS):c.1553-2A>C rs760609383
NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.2(CBS):c.162G>A (p.Trp54Ter) rs199948079
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.28del (p.Val10fs) rs779250698
NM_000071.2(CBS):c.302T>C (p.Leu101Pro) rs786204757
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.33G>A (p.Gly11=) rs567323664
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.430G>A (p.Glu144Lys) rs121964966
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.537C>T (p.Asp179=) rs769712423
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.600G>A (p.Pro200=) rs181472622
NM_000071.2(CBS):c.612G>T (p.Val204=) rs539670390
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.667-14_667-7del rs764160782
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.689del (p.Leu230fs) rs775351239
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000071.2(CBS):c.738delG rs766453711
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.785C>T (p.Thr262Met) rs149119723
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.829-12C>T rs75616587
NM_000071.2(CBS):c.829-13G>A rs201106576
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.904G>A (p.Glu302Lys) rs779270933
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.2(CBS):c.954+8G>A rs76292057
NM_000071.2(CBS):c.959T>C (p.Val320Ala) rs781567152
NM_000071.2(CBS):c.992C>A (p.Ala331Glu) rs777919630

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