ClinVar Miner

Variants with conflicting interpretations studied for I cell disease

Coded as:
Minimum review status of the submission for I cell disease: Y axis collection method of the submission for I cell disease:
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
66 62 24 16 2 0 1 40

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
I cell disease pathogenic likely pathogenic likely benign benign
pathogenic 24 7 1 1
likely pathogenic 1 0 0 0
uncertain significance 0 0 1 1
likely benign 1 0 0 8

Condition to condition summary #

Total conditions: 9
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
I cell disease; Pseudo-Hurler polydystrophy 0 0 14 8 1 0 0 23
I cell disease 155 0 12 0 0 0 1 13
not provided 0 6 7 5 1 0 1 13
not specified 0 3 0 8 1 0 1 9
Mucolipidosis 0 0 3 2 0 0 0 5
Pseudo-Hurler polydystrophy 0 1 5 0 0 0 0 5
GNPTAB-Related Disorders 0 0 2 0 0 0 0 2
Inborn genetic diseases 0 0 1 0 0 0 0 1
Mucolipidosis, Type III Alpha/Beta 0 71 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_024312.5(GNPTAB):c.*43C>T rs79089208
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468
NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) rs281865038
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817
NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) rs281865022
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895

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