ClinVar Miner

Variants with conflicting interpretations studied for Schwartz Jampel syndrome type 1

Coded as:
Minimum review status of the submission for Schwartz Jampel syndrome type 1: Y axis collection method of the submission for Schwartz Jampel syndrome type 1:
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
15 178 0 26 70 0 1 96

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
Schwartz Jampel syndrome type 1 likely pathogenic uncertain significance likely benign benign
uncertain significance 1 0 44 44
likely benign 0 1 0 26

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 provided 0 31 0 19 66 0 0 84
not specified 0 19 0 19 32 0 0 51
Childhood-Onset Schizophrenia 0 0 0 0 0 0 1 1
Schwartz Jampel syndrome type 1 288 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=) rs375617316
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194
NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=) rs112494360
NM_005529.7(HSPG2):c.11671+5G>A rs77527456
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971
NM_005529.7(HSPG2):c.12815+4G>A rs117182812
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469
NM_005529.7(HSPG2):c.13004-5G>A rs376645617
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) rs142071466
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536
NM_005529.7(HSPG2):c.1998+9C>T rs377228309
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529
NM_005529.7(HSPG2):c.2685+6C>T rs189296705
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348
NM_005529.7(HSPG2):c.3557G>A (p.Arg1186Gln) rs2229481
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=) rs886046036
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=) rs544392697
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851
NM_005529.7(HSPG2):c.3794-3C>A rs141000672
NM_005529.7(HSPG2):c.3889-10G>A rs147334960
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=) rs768475262
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117
NM_005529.7(HSPG2):c.4575C>T (p.Leu1525=) rs140056847
NM_005529.7(HSPG2):c.4627-3del rs368983547
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) rs147669915
NM_005529.7(HSPG2):c.5997+5G>C rs59720663
NM_005529.7(HSPG2):c.5998-7A>G rs148336692
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334
NM_005529.7(HSPG2):c.8026-10G>A rs377601366
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506
NM_005529.7(HSPG2):c.959-7C>T rs529027225
NM_005529.7(HSPG2):c.9710-10G>A rs369434104
NM_005529.7(HSPG2):c.9732C>T (p.His3244=) rs74782938
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482

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