ClinVar Miner

Variants in gene RECQL4 with conflicting interpretations

See also:
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
4287 105 0 43 29 0 1 67

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 10 1 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 1 1 0 27 7
likely benign 0 0 27 0 33
benign 0 0 7 33 0

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00063
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004260.4(RECQL4):c.1391-4G>T rs190388213 0.00016
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701 0.00015
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=) rs773682937 0.00009
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004260.4(RECQL4):c.2885+5G>A rs750560547 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2463+18_2463+19del rs71320828
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512

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