ClinVar Miner

Variants with conflicting interpretations studied for Landau-Kleffner syndrome

Coded as:
Minimum review status of the submission for Landau-Kleffner syndrome: Collection method of the submission for Landau-Kleffner syndrome:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
1549 62 0 52 41 0 7 98

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
Landau-Kleffner syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 27 2 0 0
likely pathogenic 27 0 6 0 0
uncertain significance 2 6 0 39 3
likely benign 0 0 39 0 25
benign 0 0 3 25 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Landau-Kleffner syndrome 1549 62 0 52 41 0 7 98

All variants with conflicting interpretations #

Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949 0.00031
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324 0.00030
NM_001134407.3(GRIN2A):c.2277C>T (p.Thr759=) rs148846694 0.00024
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104 0.00021
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989 0.00019
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00013
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291 0.00012
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=) rs144464666 0.00009
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00006
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln) rs148669437 0.00006
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803 0.00006
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044 0.00005
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=) rs758864728 0.00005
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915 0.00004
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665 0.00004
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783 0.00004
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys) rs61758996 0.00004
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg) rs142113044 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=) rs774169125 0.00004
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 0.00003
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132 0.00003
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=) rs375291296 0.00002
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn) rs777684328 0.00002
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu) rs201698049 0.00002
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His) rs777505684 0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val) rs200526162 0.00001
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys) rs560057284 0.00001
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=) rs765614514 0.00001
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530 0.00001
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=) rs372649219 0.00001
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=) rs554338361 0.00001
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys) rs765104792 0.00001
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg) rs374637415 0.00001
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389 0.00001
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=) rs1057523027
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe) rs145495027
NM_001134407.3(GRIN2A):c.2627T>A (p.Ile876Asn) rs199784503
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser) rs560057284
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met) rs367543132
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del) rs775540481
Single allele

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