ClinVar Miner

Variants in gene TTBK2 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
319 32 0 18 13 0 0 29

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.

uncertain significance likely benign benign
uncertain significance 0 11 4
likely benign 11 0 18
benign 4 18 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_173500.4(TTBK2):c.603+17G>C rs115190236 0.01219
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser) rs202237707 0.00137
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00124
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_173500.4(TTBK2):c.1929T>C (p.Ala643=) rs376543555 0.00066
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala) rs200821440 0.00029
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val) rs369045579 0.00028
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=) rs369686818 0.00024
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00016
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe) rs371538715 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser) rs200010694 0.00013
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg) rs373500080 0.00011
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His) rs370495535 0.00006
NM_173500.4(TTBK2):c.1354G>A (p.Glu452Lys) rs527763642 0.00006
NM_173500.4(TTBK2):c.441C>T (p.Phe147=) rs754428166 0.00006
NM_173500.4(TTBK2):c.1936C>G (p.Gln646Glu) rs200773248 0.00004
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.3081A>G (p.Thr1027=) rs911630565

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