ClinVar Miner

Variants with conflicting interpretations studied for Chédiak-Higashi syndrome

Coded as:
Minimum review status of the submission for Chédiak-Higashi syndrome: Y axis collection method of the submission for Chédiak-Higashi 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 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
242 27 10 25 22 0 1 50

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
Chédiak-Higashi syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 10 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 18 10
likely benign 0 0 13 0 20
benign 0 0 9 20 0

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
Chédiak-Higashi syndrome 272 14 1 17 18 0 1 33
not specified 0 11 0 22 14 0 0 30
Chediak-Higashi syndrome, childhood type 0 0 7 0 0 0 0 7
not provided 0 8 1 5 3 0 0 6
Chediak-Higashi syndrome, adult type 0 0 3 1 0 0 0 3

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_000081.3(LYST):c.-5C>T rs141317482
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.11268-5delT rs36014994
NM_000081.3(LYST):c.118_119insG (p.Ala40Glyfs) rs80338642
NM_000081.3(LYST):c.1467del (p.Glu489Aspfs) rs80338644
NM_000081.3(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.3(LYST):c.1902dupA (p.Ala635Serfs) rs80338646
NM_000081.3(LYST):c.2313G>A (p.Gln771=)
NM_000081.3(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_000081.3(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_000081.3(LYST):c.2363+10dupT
NM_000081.3(LYST):c.2623delT (p.Tyr875Metfs) rs80338649
NM_000081.3(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.2908A>C (p.Ile970Leu)
NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_000081.3(LYST):c.3394-14T>C rs372892911
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_000081.3(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_000081.3(LYST):c.4566A>C (p.Ala1522=)
NM_000081.3(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.3(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_000081.3(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) rs146591126
NM_000081.3(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.3(LYST):c.6122-13delA rs201404906
NM_000081.3(LYST):c.6292G>A (p.Ala2098Thr)
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_000081.3(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_000081.3(LYST):c.7059+7G>A rs111764031
NM_000081.3(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_000081.3(LYST):c.7806A>G (p.Gln2602=)
NM_000081.3(LYST):c.7857T>C (p.His2619=) rs34160788
NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_000081.3(LYST):c.8487C>T (p.Ile2829=)
NM_000081.3(LYST):c.9590del (p.Tyr3197Leufs) rs80338667
NM_000081.3(LYST):c.9C>T (p.Thr3=) rs33998267

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