ClinVar Miner

Variants with conflicting interpretations studied for Koolen-de Vries syndrome

Coded as:
Minimum review status of the submission for Koolen-de Vries syndrome: Collection method of the submission for Koolen-de Vries syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
831 74 0 18 9 0 3 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.

All conditions
Koolen-de Vries syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 2 0 0
likely pathogenic 2 0 1 1 0
uncertain significance 2 1 0 4 5
likely benign 0 1 4 0 16
benign 0 0 5 16 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Koolen-de Vries syndrome 831 74 0 18 9 0 3 29

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.729A>G (p.Gln243=) rs775976415 0.00006
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00001
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp) rs1322831151 0.00001
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln) rs376635152 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.2542-1G>A rs111514883
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) rs779686052
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473

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