ClinVar Miner

Variants with conflicting interpretations studied for Pontoneocerebellar hypoplasia

Coded as:
Minimum review status of the submission for Pontoneocerebellar hypoplasia: Y axis collection method of the submission for Pontoneocerebellar hypoplasia:
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
160 30 0 32 28 0 3 62

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
Pontoneocerebellar hypoplasia likely pathogenic uncertain significance likely benign benign
uncertain significance 3 0 21 9
likely benign 0 2 0 29
benign 0 0 3 0

Condition to condition summary #

Total conditions: 4
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 specified 0 16 0 30 27 0 0 56
not provided 0 22 0 9 2 0 3 14
Congenital disorder of glycosylation 0 6 0 0 1 0 0 1
Pontocerebellar hypoplasia type 1A 0 3 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_003384.2(VRK1):c.375-8G>C rs191021502
NM_003384.2(VRK1):c.45A>G (p.Ala15=) rs2145635
NM_003384.2(VRK1):c.705C>T (p.Gly235=) rs2230532
NM_006416.4(SLC35A1):c.*240G>T rs9450722
NM_006416.4(SLC35A1):c.887-14T>C rs56136150
NM_016042.3(EXOSC3):c.-11T>C rs373191549
NM_016042.3(EXOSC3):c.-12G>C rs115431773
NM_016042.3(EXOSC3):c.166A>C (p.Asn56His) rs148348866
NM_016042.3(EXOSC3):c.498G>A (p.Gln166=) rs7158
NM_016042.3(EXOSC3):c.673T>C (p.Tyr225His) rs3208406
NM_016955.3(SEPSECS):c.1120+12T>C rs4697552
NM_016955.3(SEPSECS):c.1211+7A>G rs17408685
NM_016955.3(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566
NM_016955.3(SEPSECS):c.780A>G (p.Ser260=) rs61747281
NM_016955.3(SEPSECS):c.935-5T>G rs2302564
NM_020320.3(RARS2):c.442A>G (p.Thr148Ala) rs143389605
NM_020320.3(RARS2):c.606C>T (p.Leu202=) rs75794097
NM_020320.3(RARS2):c.703G>A (p.Val235Met) rs35862137
NM_020320.4(RARS2):c.-13C>T rs200228607
NM_020320.4(RARS2):c.-8A>C rs28381459
NM_020320.4(RARS2):c.1366C>T (p.Arg456Cys) rs147844153
NM_020320.4(RARS2):c.155A>T (p.Lys52Ile) rs73496064
NM_020320.4(RARS2):c.1637C>T (p.Pro546Leu) rs142348911
NM_020320.4(RARS2):c.1704A>G (p.Lys568=) rs8802
NM_020320.4(RARS2):c.207A>G (p.Ala69=) rs568483789
NM_020320.4(RARS2):c.63A>G (p.Pro21=) rs7748563
NM_020320.4(RARS2):c.872A>G (p.Lys291Arg) rs17850652
NM_020320.4(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020320.4(RARS2):c.975-14C>T rs199941996
NM_020320.4(RARS2):c.991A>G (p.Ile331Val) rs3757370
NM_024075.4(TSEN34):c.*29G>A rs2289145
NM_024075.4(TSEN34):c.-5+15G>A rs141003293
NM_024075.4(TSEN34):c.230G>C (p.Arg77Pro) rs200004897
NM_024075.4(TSEN34):c.39G>A (p.Val13=) rs184898622
NM_024075.4(TSEN34):c.688C>A (p.Arg230=) rs11879943
NM_025265.3(TSEN2):c.-20G>A rs9871742
NM_025265.3(TSEN2):c.1029C>T (p.Tyr343=) rs371073764
NM_025265.3(TSEN2):c.122G>A (p.Arg41His) rs12495784
NM_025265.3(TSEN2):c.1332A>G (p.Lys444=) rs113981920
NM_025265.3(TSEN2):c.1350G>A (p.Leu450=) rs116627250
NM_025265.3(TSEN2):c.162G>A (p.Ala54=) rs78685815
NM_025265.3(TSEN2):c.272-4C>G rs41293385
NM_025265.3(TSEN2):c.327G>A (p.Glu109=) rs77899976
NM_025265.3(TSEN2):c.389A>C (p.Lys130Thr) rs142211875
NM_025265.3(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_025265.3(TSEN2):c.639T>C (p.Asp213=) rs3796329
NM_025265.3(TSEN2):c.961-14G>A rs748777382
NM_025265.3(TSEN2):c.963G>A (p.Glu321=) rs17036879
NM_207346.2(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739
NM_207346.2(TSEN54):c.1368C>T (p.Asp456=) rs138560086
NM_207346.2(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020
NM_207346.2(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470
NM_207346.2(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042
NM_207346.2(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627
NM_207346.2(TSEN54):c.285+12G>A rs373044979
NM_207346.2(TSEN54):c.325C>G (p.Arg109Gly) rs148146916
NM_207346.2(TSEN54):c.3_8dupGGAGCC (p.Pro7_Ala8insGluPro) rs398124622
NM_207346.2(TSEN54):c.409A>C (p.Ile137Leu) rs11559205
NM_207346.2(TSEN54):c.568G>A (p.Val190Met) rs79508780
NM_207346.2(TSEN54):c.624-9G>A rs138719855
NM_207346.2(TSEN54):c.767G>A (p.Gly256Asp) rs200683263
NM_207346.2(TSEN54):c.984T>C (p.Ala328=) rs776960594

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.