ClinVar Miner

Variants in gene RECQL4 with conflicting interpretations

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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
926 110 1 20 11 0 2 33

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 4 1 0 0
likely pathogenic 4 1 1 0 0
uncertain significance 1 1 0 10 2
likely benign 0 0 10 0 16
benign 0 0 2 16 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_004260.3(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.3(RECQL4):c.1390+3G>A rs148912524
NM_004260.3(RECQL4):c.1391-4G>T rs190388213
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1573delT (p.Cys525Alafs) rs386833845
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1621-8A>G rs373357384
NM_004260.3(RECQL4):c.1704+9C>T rs35876881
NM_004260.3(RECQL4):c.171C>T (p.Gly57=) rs758179747
NM_004260.3(RECQL4):c.1872C>T (p.Val624=) rs201815449
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.3(RECQL4):c.221_222delAG (p.Glu74Alafs) rs773325186
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851
NM_004260.3(RECQL4):c.2538A>G (p.Val846=) rs746303718
NM_004260.3(RECQL4):c.2569_2574dup (p.Thr858_Arg859insCysThr) rs548804317
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.3072delA (p.Val1026Cysfs) rs386833852
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004260.3(RECQL4):c.3246C>T (p.Phe1082=) rs748604051
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) rs61755066
NM_004260.3(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077
NM_004260.3(RECQL4):c.3600G>A (p.Thr1200=) rs35225938
NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) rs201384843
NM_004260.3(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.3(RECQL4):c.543G>A (p.Gln181=) rs34159914
NM_004260.3(RECQL4):c.615C>G (p.Pro205=) rs35639991
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578
NM_004260.3(RECQL4):c.752delG (p.Ser251Thrfs) rs1064796290
NM_004260.3(RECQL4):c.969C>T (p.Ser323=) rs745658597

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