ClinVar Miner

Variants with conflicting interpretations studied for Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9

Coded as:
Minimum review status of the submission for Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9: Y axis collection method of the submission for Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9:
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
132 50 1 40 35 0 3 65

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
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 2 0 0 0
uncertain significance 1 2 0 1 0
likely benign 0 0 20 0 2
benign 0 0 14 36 0

Condition to condition summary #

Total conditions: 12
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 22 0 30 15 0 0 42
Hereditary sensory and autonomic neuropathy type II 0 4 0 14 20 0 0 34
Intellectual Disability, Dominant 0 4 0 14 20 0 0 34
Spastic Paraplegia, Recessive 0 4 0 14 20 0 0 34
not provided 0 31 0 5 8 0 2 15
History of neurodevelopmental disorder 0 28 0 12 2 0 0 14
Mental retardation, autosomal dominant 9 0 2 0 0 1 0 1 2
Hereditary sensory and autonomic neuropathy type IIA 0 0 1 0 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 1 0 0 1
Spastic paraplegia 0 1 0 1 0 0 0 1
Spastic paraplegia 30, autosomal recessive 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_001244008.1(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.1(KIF1A):c.2088C>T (p.Asn696=) rs758111969
NM_001244008.1(KIF1A):c.2840delT (p.Leu947Argfs) rs587778791
NM_001244008.1(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_004321.7(KIF1A):c.1394+9C>T rs372601809
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.1551-4G>A rs376897164
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.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.231C>T (p.Ile77=) rs530669240
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.2418-8C>T rs200705912
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2555+7G>A rs781439626
NM_004321.7(KIF1A):c.258T>C (p.Phe86=) rs183284555
NM_004321.7(KIF1A):c.2595C>G (p.Pro865=) rs140783695
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2769C>G (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.2829C>A (p.Ile943=) rs373045276
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
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.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.3165C>T (p.Ile1055=) rs201981364
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.3378G>A (p.Pro1126=) rs370913170
NM_004321.7(KIF1A):c.3390C>T (p.His1130=) rs375829173
NM_004321.7(KIF1A):c.3513+9C>T rs527731125
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.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
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.4071C>T (p.Gly1357=) rs375309925
NM_004321.7(KIF1A):c.4162-10C>T rs750461872
NM_004321.7(KIF1A):c.423C>T (p.Ser141=) rs565992344
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4363-5C>T rs532806732
NM_004321.7(KIF1A):c.4441-5C>T rs117815481
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
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.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4722G>A (p.Pro1574=) rs148176695
NM_004321.7(KIF1A):c.4852G>A (p.Val1618Met) rs200511467
NM_004321.7(KIF1A):c.609-8C>T rs775915390
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.883-5C>A rs201408083
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096

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