ClinVar Miner

Variants in gene combination TBCEL-TECTA, TECTA 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
725 114 0 29 59 0 11 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 0 7 7 1 0
likely pathogenic 7 0 5 0 0
uncertain significance 7 5 0 50 14
likely benign 1 0 50 0 22
benign 0 0 14 22 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005422.4(TECTA):c.5384-19G>A rs7111480 0.00609
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_005422.4(TECTA):c.-1-12T>C rs145916279 0.00352
NM_005422.4(TECTA):c.690C>T (p.Ile230=) rs34605023 0.00319
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile) rs34658230 0.00253
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005422.4(TECTA):c.625-4G>T rs142007879 0.00146
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_005422.4(TECTA):c.4788C>T (p.Ile1596=) rs150561147 0.00103
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005422.4(TECTA):c.3704A>G (p.Asn1235Ser) rs200852252 0.00046
NM_005422.4(TECTA):c.3896A>G (p.Gln1299Arg) rs137916023 0.00046
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys) rs150512674 0.00028
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_005422.4(TECTA):c.3791A>G (p.Asn1264Ser) rs200871280 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005422.4(TECTA):c.3236A>G (p.Asp1079Gly) rs562735582 0.00016
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn) rs769561057 0.00014
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=) rs140608882 0.00014
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.4824C>T (p.Ile1608=) rs747713348 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005422.4(TECTA):c.1132G>A (p.Val378Met) rs372860835 0.00009
NM_005422.4(TECTA):c.2266A>G (p.Lys756Glu) rs141420954 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.3016G>A (p.Gly1006Ser) rs375052932 0.00009
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) rs200367148 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_005422.4(TECTA):c.2967C>A (p.His989Gln) rs200821009 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_005422.4(TECTA):c.841G>A (p.Val281Ile) rs142205703 0.00006
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2064G>A (p.Lys688=) rs375140632 0.00004
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu) rs151296951 0.00004
NM_005422.4(TECTA):c.3742C>T (p.Pro1248Ser) rs202223574 0.00004
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His) rs527976707 0.00004
NM_005422.4(TECTA):c.45C>T (p.Phe15=) rs756460108 0.00004
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met) rs373132598 0.00003
NM_005422.4(TECTA):c.6162+1G>A rs1045921265 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005422.4(TECTA):c.4665del (p.Ile1556fs) rs764570434 0.00001
NM_005422.4(TECTA):c.5372C>G (p.Pro1791Arg) rs754213928 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) rs1455568421 0.00001
NM_005422.4(TECTA):c.2264dup (p.Asn755fs) rs1159210445
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.4(TECTA):c.336T>C (p.Tyr112=) rs886043412
NM_005422.4(TECTA):c.3451G>A (p.Asp1151Asn)
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.4009G>A (p.Ala1337Thr)
NM_005422.4(TECTA):c.4021G>A (p.Ala1341Thr)
NM_005422.4(TECTA):c.4578G>A (p.Gln1526=)
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.4(TECTA):c.5672C>T (p.Thr1891Met)
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn) rs2134215546
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=) rs141203939
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.