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
269 33 11 21 37 0 2 66

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 11 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 29 15
likely benign 0 0 7 0 20
benign 0 0 2 10 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
not provided 0 18 1 13 31 0 0 41
not specified 0 9 0 17 12 0 0 27
Chédiak-Higashi syndrome 328 20 2 11 7 0 2 20
Chediak-Higashi syndrome, childhood type 0 0 7 0 0 0 0 7
Chediak-Higashi syndrome, adult type 0 0 3 1 0 0 0 3

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_001301365.1(LYST):c.-5C>T rs141317482
NM_001301365.1(LYST):c.10127A>G (p.Asn3376Ser)
NM_001301365.1(LYST):c.10477T>C (p.Phe3493Leu)
NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.118dup (p.Ala40fs) rs80338642
NM_001301365.1(LYST):c.1467del (p.Glu489fs) rs80338644
NM_001301365.1(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_001301365.1(LYST):c.1494A>G (p.Arg498=)
NM_001301365.1(LYST):c.1655T>C (p.Val552Ala)
NM_001301365.1(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_001301365.1(LYST):c.196T>C (p.Leu66=)
NM_001301365.1(LYST):c.2313G>A (p.Gln771=)
NM_001301365.1(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_001301365.1(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.2413del (p.Glu805fs)
NM_001301365.1(LYST):c.2517T>C (p.Ile839=)
NM_001301365.1(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_001301365.1(LYST):c.2700A>G (p.Leu900=)
NM_001301365.1(LYST):c.2724C>T (p.Cys908=)
NM_001301365.1(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_001301365.1(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_001301365.1(LYST):c.2908A>C (p.Ile970Leu)
NM_001301365.1(LYST):c.2946T>C (p.Tyr982=)
NM_001301365.1(LYST):c.3030A>G (p.Gly1010=)
NM_001301365.1(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_001301365.1(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_001301365.1(LYST):c.3394-14T>C rs372892911
NM_001301365.1(LYST):c.368A>G (p.His123Arg) rs3768067
NM_001301365.1(LYST):c.3834G>A (p.Leu1278=)
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.4566A>C (p.Ala1522=)
NM_001301365.1(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.5635-4A>G
NM_001301365.1(LYST):c.5719A>G (p.Ile1907Val)
NM_001301365.1(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_001301365.1(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_001301365.1(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_001301365.1(LYST):c.6122-13del rs201404906
NM_001301365.1(LYST):c.6291C>T (p.Ala2097=)
NM_001301365.1(LYST):c.6292G>A (p.Ala2098Thr)
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_001301365.1(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_001301365.1(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_001301365.1(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_001301365.1(LYST):c.7059+7G>A rs111764031
NM_001301365.1(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_001301365.1(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_001301365.1(LYST):c.7806A>G (p.Gln2602=)
NM_001301365.1(LYST):c.7857T>C (p.His2619=) rs34160788
NM_001301365.1(LYST):c.8368A>C (p.Lys2790Gln)
NM_001301365.1(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=)
NM_001301365.1(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_001301365.1(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_001301365.1(LYST):c.9C>T (p.Thr3=) rs33998267

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.