ClinVar Miner

Variants with conflicting interpretations studied for Hereditary sensory and autonomic neuropathy type II

Coded as:
Minimum review status of the submission for Hereditary sensory and autonomic neuropathy type II: Y axis collection method of the submission for Hereditary sensory and autonomic neuropathy type II:
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
21 205 0 41 45 0 0 83

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
Hereditary sensory and autonomic neuropathy type II uncertain significance likely benign benign
uncertain significance 0 31 10
likely benign 12 0 41

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
not specified 0 27 0 20 24 0 0 43
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 4 0 14 20 0 0 34
Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 0 17 0 19 6 0 0 25
History of neurodevelopmental disorder 0 2 0 12 9 0 0 21
not provided 0 10 0 1 7 0 0 8
Hereditary sensory and autonomic neuropathy type IIB 0 4 0 3 3 0 0 6
Hereditary sensory and autonomic neuropathy type IIA 0 12 0 2 0 0 0 2
Spastic paraplegia 30, autosomal recessive 0 0 0 0 1 0 0 1
Variant of unknown significance 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_001034850.2(RETREG1):c.1089T>C (p.Asp363=) rs200156015
NM_001034850.2(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513
NM_001034850.2(RETREG1):c.1145G>C (p.Ser382Thr) rs61733811
NM_001034850.2(RETREG1):c.438G>A (p.Leu146=) rs61741225
NM_001034850.2(RETREG1):c.607G>A (p.Val203Met) rs143878016
NM_001034850.2(RETREG1):c.6G>C (p.Ala2=) rs750740230
NM_004321.7(KIF1A):c.-13G>A rs140017120
NM_004321.7(KIF1A):c.-55C>T rs886055838
NM_004321.7(KIF1A):c.1194G>A (p.Leu398=) rs201242759
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.183+15C>T rs73102676
NM_004321.7(KIF1A):c.183+7C>T rs74469870
NM_004321.7(KIF1A):c.184-10C>T rs7594776
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2089+12C>T rs192836330
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2555+4G>A rs572013653
NM_004321.7(KIF1A):c.2595C>G (p.Pro865=) rs140783695
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.2943C>T (p.Ala981=) rs368682964
NM_004321.7(KIF1A):c.2944G>A (p.Ala982Thr) rs201793635
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3365C>T (p.Thr1122Met) rs374873057
NM_004321.7(KIF1A):c.3369G>A (p.Arg1123=) rs371024769
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.3598+11T>C rs56847463
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.393C>T (p.Asn131=) rs35139906
NM_004321.7(KIF1A):c.4005G>A (p.Ala1335=) rs370868080
NM_004321.7(KIF1A):c.4016-8C>T rs1529663
NM_004321.7(KIF1A):c.4162-10C>T rs750461872
NM_004321.7(KIF1A):c.423C>T (p.Ser141=) rs565992344
NM_004321.7(KIF1A):c.430-14G>A rs201456681
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4441-5C>T rs117815481
NM_004321.7(KIF1A):c.4475C>T (p.Pro1492Leu) rs200902828
NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=) rs76974316
NM_004321.7(KIF1A):c.4548C>T (p.Tyr1516=) rs202049905
NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) rs191428830
NM_004321.7(KIF1A):c.4722G>A (p.Pro1574=) rs148176695
NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=) rs143815273
NM_004321.7(KIF1A):c.4761G>A (p.Pro1587=) rs527977882
NM_004321.7(KIF1A):c.714G>A (p.Thr238=) rs201970806
NM_004321.7(KIF1A):c.849C>T (p.Ser283=) rs187442951
NM_004321.7(KIF1A):c.882+8G>A rs376552408
NM_004321.7(KIF1A):c.991T>C (p.Leu331=) rs1063353
NM_018979.3(WNK1):c.1074C>T (p.Thr358=) rs72648621
NM_018979.3(WNK1):c.108G>C (p.Gly36=) rs375485682
NM_018979.3(WNK1):c.1512A>G (p.Leu504=) rs56325964
NM_018979.3(WNK1):c.1526T>C (p.Ile509Thr) rs34728563
NM_018979.3(WNK1):c.1855A>G (p.Thr619Ala) rs149388376
NM_018979.3(WNK1):c.2020A>G (p.Thr674Ala) rs11833299
NM_018979.3(WNK1):c.2052A>G (p.Ala684=) rs72648690
NM_018979.3(WNK1):c.2081T>C (p.Ile694Thr) rs61736905
NM_018979.3(WNK1):c.2206A>G (p.Ile736Val) rs147099510
NM_018979.3(WNK1):c.2336C>T (p.Ala779Val) rs141428612
NM_018979.3(WNK1):c.2468A>G (p.His823Arg) rs56015776
NM_018979.3(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_018979.3(WNK1):c.2652G>A (p.Ala884=) rs142528714
NM_018979.3(WNK1):c.3490-5T>A rs72650719
NM_018979.3(WNK1):c.3516A>G (p.Ile1172Met) rs150532648
NM_018979.3(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720
NM_018979.3(WNK1):c.3654A>G (p.Ser1218=) rs141971833
NM_018979.3(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401
NM_018979.3(WNK1):c.446C>T (p.Ala149Val) rs34880640
NM_018979.3(WNK1):c.4605_4607delCAG (p.Ser1536del) rs567183841
NM_018979.3(WNK1):c.4983T>C (p.Ser1661=) rs149852592
NM_018979.3(WNK1):c.5281-4G>A rs72650740
NM_018979.3(WNK1):c.5481A>G (p.Thr1827=) rs61736908
NM_018979.3(WNK1):c.5496G>A (p.Gln1832=) rs138219481
NM_018979.3(WNK1):c.5583+3A>G rs72650758
NM_018979.3(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891
NM_018979.3(WNK1):c.578C>A (p.Pro193Gln) rs72647372
NM_018979.3(WNK1):c.5991G>A (p.Glu1997=) rs61736907
NM_018979.3(WNK1):c.6150T>C (p.Leu2050=) rs151331381
NM_018979.3(WNK1):c.684C>T (p.Gly228=) rs72647374
NM_018979.3(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595

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.