ClinVar Miner

Variants in gene KANSL1 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
454 29 5 25 33 0 2 61

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 uncertain significance likely benign benign
pathogenic 5 2 0 0
uncertain significance 2 0 32 4
likely benign 0 32 0 25
benign 0 4 25 0

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_001193466.1(KANSL1):c.-35C>T rs200079769
NM_001193466.1(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524
NM_001193466.1(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.1(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
NM_001193466.1(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_001193466.1(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_001193466.1(KANSL1):c.1265A>T (p.Asp422Val) rs191058987
NM_001193466.1(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.1(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936
NM_001193466.1(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_001193466.1(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_001193466.1(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667
NM_001193466.1(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_001193466.1(KANSL1):c.1652+1G>A rs281865470
NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.1(KANSL1):c.1738G>A (p.Val580Ile) rs117412152
NM_001193466.1(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_001193466.1(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.1(KANSL1):c.1831G>A (p.Val611Ile) rs202150313
NM_001193466.1(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741
NM_001193466.1(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.1(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_001193466.1(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.1(KANSL1):c.2159G>A (p.Arg720His) rs148825937
NM_001193466.1(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.1(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_001193466.1(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.1(KANSL1):c.2331C>T (p.Pro777=) rs139663254
NM_001193466.1(KANSL1):c.2414T>C (p.Met805Thr) rs201526313
NM_001193466.1(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.1(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_001193466.1(KANSL1):c.2481C>T (p.Ser827=) rs143653891
NM_001193466.1(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_001193466.1(KANSL1):c.2628C>T (p.Arg876=) rs149756887
NM_001193466.1(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_001193466.1(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664
NM_001193466.1(KANSL1):c.2725-7A>G rs186818985
NM_001193466.1(KANSL1):c.2785_2786delAG (p.Arg929Glyfs) rs281865471
NM_001193466.1(KANSL1):c.296A>G (p.Gln99Arg) rs754727332
NM_001193466.1(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.1(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_001193466.1(KANSL1):c.30C>T (p.Asp10=) rs200649587
NM_001193466.1(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_001193466.1(KANSL1):c.541C>T (p.Arg181Trp) rs375225315
NM_001193466.1(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.1(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.1(KANSL1):c.620A>G (p.Asn207Ser) rs144882998
NM_001193466.1(KANSL1):c.635A>G (p.His212Arg) rs141110759
NM_001193466.1(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.1(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_001193466.1(KANSL1):c.719C>T (p.Pro240Leu) rs767565501
NM_001193466.1(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.1(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001193466.1(KANSL1):c.800A>G (p.Lys267Arg) rs140181991
NM_001193466.1(KANSL1):c.849G>A (p.Arg283=) rs754362361
NM_001193466.1(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.1(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_001193466.1(KANSL1):c.895C>T (p.Arg299Cys) rs755353984
NM_001193466.1(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_001193466.1(KANSL1):c.949A>G (p.Ile317Val) rs139843442
NM_001193466.1(KANSL1):c.985_986delTT (p.Leu329Glufs) rs281865473

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