ClinVar Miner

Variants with conflicting interpretations studied for Intellectual Disability, Dominant

Coded as:
Minimum review status of the submission for Intellectual Disability, Dominant: Y axis collection method of the submission for Intellectual Disability, Dominant:
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
63 104 0 55 102 0 0 154

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
Intellectual Disability, Dominant uncertain significance likely benign benign
uncertain significance 0 90 46
likely benign 3 0 55

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 20 0 42 83 0 0 124
History of neurodevelopmental disorder 0 5 0 45 38 0 0 83
Charcot-Marie-Tooth disease, axonal, type 2O 0 6 0 14 28 0 0 42
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
not provided 0 12 0 10 12 0 0 22
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 1 0 4 11 0 0 15
Mental retardation, autosomal dominant 1 0 4 0 1 7 0 0 8
Mental retardation, autosomal dominant 6 0 0 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: 154
Download table as spreadsheet
HGVS dbSNP
NM_000834.3(GRIN2B):c.2247G>A (p.Val749=) rs757990373
NM_000834.3(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.3(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000834.3(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.-15G>A rs12818068
NM_000834.4(GRIN2B):c.-18-10G>C rs146841522
NM_000834.4(GRIN2B):c.1126-12A>G rs76777620
NM_000834.4(GRIN2B):c.1569C>T (p.Val523=) rs148573953
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) rs34315573
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339
NM_000834.4(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.4(GRIN2B):c.189C>T (p.Ser63=) rs199707487
NM_000834.4(GRIN2B):c.190G>A (p.Val64Met) rs150070901
NM_000834.4(GRIN2B):c.2172-8C>T rs751592819
NM_000834.4(GRIN2B):c.2481G>A (p.Ala827=) rs189384622
NM_000834.4(GRIN2B):c.2628G>A (p.Ala876=) rs199710029
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.2703G>A (p.Leu901=) rs145005918
NM_000834.4(GRIN2B):c.2826G>A (p.Thr942=) rs140573925
NM_000834.4(GRIN2B):c.3174C>T (p.Ser1058=) rs772364390
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) rs1806191
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.366C>G (p.Pro122=) rs7301328
NM_000834.4(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246
NM_000834.4(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000834.4(GRIN2B):c.732C>G (p.Ala244=) rs201554036
NM_000834.4(GRIN2B):c.870C>T (p.Pro290=) rs1124894
NM_001376.4(DYNC1H1):c.-13C>G rs537857759
NM_001376.4(DYNC1H1):c.-5A>G rs17511858
NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.4(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.4(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.4(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.4(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.4(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.4(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.4(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.4(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.4(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.4(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.4(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.4(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.4(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.4(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377
NM_001376.4(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.4(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.4(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.4(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.4(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.4(DYNC1H1):c.345-10T>G rs202110844
NM_001376.4(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.4(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.4(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.4(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.4(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.4(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304
NM_001376.4(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.4(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.4(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.4(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.4(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.4(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.4(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.4(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.4(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
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_018328.4(MBD5):c.-556-8T>C rs140968376
NM_018328.4(MBD5):c.-663C>T rs748989182
NM_018328.4(MBD5):c.-831+9dupT rs796052705
NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) rs536900412
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp) rs757922781
NM_018328.4(MBD5):c.1596A>G (p.Val532=) rs114611333
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.2454G>A (p.Thr818=) rs769275989
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3055-9T>C rs370173652
NM_018328.4(MBD5):c.3595G>A (p.Gly1199Arg) rs201334086
NM_018328.4(MBD5):c.3620G>A (p.Arg1207Gln) rs139042949
NM_018328.4(MBD5):c.398-12C>T rs556768118
NM_018328.4(MBD5):c.4038T>C (p.Asn1346=) rs147744781
NM_018328.4(MBD5):c.4221C>T (p.Asp1407=) rs768363712

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