ClinVar Miner

List of variants in gene GRIN2A reported as uncertain significance for Epilepsy, focal, with speech disorder and with or without mental retardation

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NC_000016.10:g.(?_10179978)_(10180431_?)dup
NC_000016.9:g.10106138_10417597dup
NM_000833.4(GRIN2A):c.*1058T>A rs886052546
NM_000833.4(GRIN2A):c.*1432del rs569463295
NM_000833.4(GRIN2A):c.*1535C>T rs886052545
NM_000833.4(GRIN2A):c.*1539T>G rs886052544
NM_000833.4(GRIN2A):c.*1806G>A rs886052543
NM_000833.4(GRIN2A):c.*1998A>T rs886052542
NM_000833.4(GRIN2A):c.*2053C>T rs775312419
NM_000833.4(GRIN2A):c.*2509G>A rs530124672
NM_000833.4(GRIN2A):c.*2544C>T rs766920527
NM_000833.4(GRIN2A):c.*2556C>T rs886052541
NM_000833.4(GRIN2A):c.*2622A>T rs886052540
NM_000833.4(GRIN2A):c.*268G>A rs886052553
NM_000833.4(GRIN2A):c.*2771_*2774dup rs35189803
NM_000833.4(GRIN2A):c.*2773_*2774dup rs35189803
NM_000833.4(GRIN2A):c.*2775_*2776insA rs886052539
NM_000833.4(GRIN2A):c.*2835C>T rs886052538
NM_000833.4(GRIN2A):c.*286A>G rs886052552
NM_000833.4(GRIN2A):c.*3166C>T rs886052537
NM_000833.4(GRIN2A):c.*3396T>G rs886052536
NM_000833.4(GRIN2A):c.*3543G>C rs886052535
NM_000833.4(GRIN2A):c.*3589G>A rs763658518
NM_000833.4(GRIN2A):c.*4207G>A rs747470370
NM_000833.4(GRIN2A):c.*5006G>A rs773012536
NM_000833.4(GRIN2A):c.*5109G>C rs886052534
NM_000833.4(GRIN2A):c.*5161C>T rs369083217
NM_000833.4(GRIN2A):c.*542_*544del rs760275969
NM_000833.4(GRIN2A):c.*545G>C rs886052551
NM_000833.4(GRIN2A):c.*5471T>C rs886052533
NM_000833.4(GRIN2A):c.*5473G>A rs886052532
NM_000833.4(GRIN2A):c.*574C>A rs886052550
NM_000833.4(GRIN2A):c.*5775dup rs202247656
NM_000833.4(GRIN2A):c.*5790del rs74985384
NM_000833.4(GRIN2A):c.*6042A>C rs780823999
NM_000833.4(GRIN2A):c.*6178T>C rs886052531
NM_000833.4(GRIN2A):c.*650C>G rs886052549
NM_000833.4(GRIN2A):c.*6599T>C rs886052530
NM_000833.4(GRIN2A):c.*6659G>A rs886052529
NM_000833.4(GRIN2A):c.*6760G>A rs886052528
NM_000833.4(GRIN2A):c.*678G>A rs886052548
NM_000833.4(GRIN2A):c.*6897del rs886052527
NM_000833.4(GRIN2A):c.*7023_*7024dup rs113553391
NM_000833.4(GRIN2A):c.*7112A>C rs143274147
NM_000833.4(GRIN2A):c.*7207G>A rs886052525
NM_000833.4(GRIN2A):c.*7278G>T rs886052524
NM_000833.4(GRIN2A):c.*7289T>A rs868376839
NM_000833.4(GRIN2A):c.*7293del rs58903398
NM_000833.4(GRIN2A):c.*7379A>G rs886052522
NM_000833.4(GRIN2A):c.*7483C>T rs551009533
NM_000833.4(GRIN2A):c.*7775C>T rs886052521
NM_000833.4(GRIN2A):c.*7897C>T rs886052520
NM_000833.4(GRIN2A):c.*7982A>C rs766455387
NM_000833.4(GRIN2A):c.*8156A>G rs886052519
NM_000833.4(GRIN2A):c.*8359T>C rs886052518
NM_000833.4(GRIN2A):c.*8398G>A rs886052517
NM_000833.4(GRIN2A):c.*8542T>C rs886052516
NM_000833.4(GRIN2A):c.*8609C>T rs760313721
NM_000833.4(GRIN2A):c.*8626G>C rs886052515
NM_000833.4(GRIN2A):c.*8781G>A rs886052514
NM_000833.4(GRIN2A):c.*9207G>A rs886052513
NM_000833.4(GRIN2A):c.*971C>A rs886052547
NM_000833.4(GRIN2A):c.-34C>G rs564039694
NM_000833.4(GRIN2A):c.1030G>C (p.Asp344His)
NM_000833.4(GRIN2A):c.1057G>A (p.Glu353Lys)
NM_000833.4(GRIN2A):c.1119A>G (p.Glu373=) rs368406915
NM_000833.4(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009
NM_000833.4(GRIN2A):c.1170G>T (p.Trp390Cys) rs1555496181
NM_000833.4(GRIN2A):c.1249G>A (p.Val417Ile) rs749504561
NM_000833.4(GRIN2A):c.1263C>T (p.Asp421=) rs781215527
NM_000833.4(GRIN2A):c.1317C>G (p.Phe439Leu) rs752012396
NM_000833.4(GRIN2A):c.1323A>C (p.Lys441Asn)
NM_000833.4(GRIN2A):c.1380C>T (p.Cys460=) rs375291296
NM_000833.4(GRIN2A):c.1382T>A (p.Ile461Asn)
NM_000833.4(GRIN2A):c.1498-14_1498-13del rs1491547779
NM_000833.4(GRIN2A):c.1500G>A (p.Val500=)
NM_000833.4(GRIN2A):c.1777+6G>T rs76549675
NM_000833.4(GRIN2A):c.1780C>T (p.Pro594Ser) rs367543140
NM_000833.4(GRIN2A):c.179C>T (p.Ala60Val)
NM_000833.4(GRIN2A):c.1913C>T (p.Ala638Val)
NM_000833.4(GRIN2A):c.2007+10C>T rs368110989
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_000833.4(GRIN2A):c.2147C>A (p.Ala716Asp) rs1057519552
NM_000833.4(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542
NM_000833.4(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_000833.4(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_000833.4(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733
NM_000833.4(GRIN2A):c.2445C>A (p.Asp815Glu)
NM_000833.4(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_000833.4(GRIN2A):c.2497A>G (p.Ile833Val) rs774656858
NM_000833.4(GRIN2A):c.2516A>T (p.His839Leu)
NM_000833.4(GRIN2A):c.2532G>A (p.Lys844=) rs754414929
NM_000833.4(GRIN2A):c.2549C>T (p.Thr850Met) rs1060503230
NM_000833.4(GRIN2A):c.2563G>A (p.Asp855Asn) rs796052564
NM_000833.4(GRIN2A):c.2674A>G (p.Ser892Gly) rs1060503229
NM_000833.4(GRIN2A):c.2695C>T (p.Arg899Trp) rs796052553
NM_000833.4(GRIN2A):c.2735C>G (p.Ser912Cys) rs200588845
NM_000833.4(GRIN2A):c.2744T>C (p.Met915Thr) rs1060503231
NM_000833.4(GRIN2A):c.2749T>G (p.Ser917Ala) rs1060503232
NM_000833.4(GRIN2A):c.2765C>T (p.Ala922Val) rs200037904
NM_000833.4(GRIN2A):c.2779A>G (p.Arg927Gly) rs761044372
NM_000833.4(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044
NM_000833.4(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_000833.4(GRIN2A):c.2907C>G (p.Asn969Lys) rs772589363
NM_000833.4(GRIN2A):c.2929A>C (p.Asn977His) rs776506065
NM_000833.4(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747
NM_000833.4(GRIN2A):c.3042G>A (p.Trp1014Ter)
NM_000833.4(GRIN2A):c.3138A>G (p.Leu1046=) rs773244936
NM_000833.4(GRIN2A):c.3176C>G (p.Ser1059Cys) rs772497745
NM_000833.4(GRIN2A):c.3293G>A (p.Cys1098Tyr) rs746257794
NM_000833.4(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783
NM_000833.4(GRIN2A):c.3391G>T (p.Asp1131Tyr)
NM_000833.4(GRIN2A):c.3400C>A (p.Gln1134Lys) rs748967552
NM_000833.4(GRIN2A):c.3476G>A (p.Arg1159His) rs534440095
NM_000833.4(GRIN2A):c.3505C>T (p.Arg1169Trp)
NM_000833.4(GRIN2A):c.3535T>G (p.Ser1179Ala) rs142670870
NM_000833.4(GRIN2A):c.3539A>T (p.Asn1180Ile) rs972229279
NM_000833.4(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_000833.4(GRIN2A):c.3561C>T (p.Tyr1187=) rs750802726
NM_000833.4(GRIN2A):c.3659A>C (p.Asn1220Thr) rs1131691913
NM_000833.4(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_000833.4(GRIN2A):c.3678C>T (p.Gly1226=) rs749144109
NM_000833.4(GRIN2A):c.3737A>G (p.Tyr1246Cys) rs779437393
NM_000833.4(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530
NM_000833.4(GRIN2A):c.3820A>G (p.Asn1274Asp)
NM_000833.4(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132
NM_000833.4(GRIN2A):c.3854G>T (p.Arg1285Met)
NM_000833.4(GRIN2A):c.38C>T (p.Pro13Leu) rs367543131
NM_000833.4(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278
NM_000833.4(GRIN2A):c.3993C>A (p.Val1331=) rs886052554
NM_000833.4(GRIN2A):c.4084A>G (p.Thr1362Ala) rs77282679
NM_000833.4(GRIN2A):c.4126C>T (p.Arg1376Cys) rs1426934537
NM_000833.4(GRIN2A):c.414+7C>T
NM_000833.4(GRIN2A):c.4185G>A (p.Ala1395=) rs778429009
NM_000833.4(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406
NM_000833.4(GRIN2A):c.4205G>A (p.Arg1402Gln)
NM_000833.4(GRIN2A):c.4229C>T (p.Ser1410Leu)
NM_000833.4(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885
NM_000833.4(GRIN2A):c.4247G>C (p.Ser1416Thr) rs377712891
NM_000833.4(GRIN2A):c.4259A>G (p.Asn1420Ser)
NM_000833.4(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045
NM_000833.4(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526
NM_000833.4(GRIN2A):c.4355G>A (p.Arg1452His)
NM_000833.4(GRIN2A):c.4373C>G (p.Pro1458Arg) rs933017490
NM_000833.4(GRIN2A):c.559G>A (p.Val187Ile) rs751692867
NM_000833.4(GRIN2A):c.568A>G (p.Thr190Ala) rs886051634
NM_000833.4(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124
NM_000833.4(GRIN2A):c.634G>A (p.Asp212Asn)
NM_000833.4(GRIN2A):c.747C>T (p.Thr249=) rs774169125
NM_000833.4(GRIN2A):c.76G>T (p.Ala26Ser) rs751198815
NM_000833.4(GRIN2A):c.794C>T (p.Thr265Met)
NM_000833.4(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876
NM_000833.4(GRIN2A):c.886A>G (p.Ile296Val) rs953400144
NM_000833.4(GRIN2A):c.952G>A (p.Ala318Thr)
NM_000833.4(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389
NM_001134407.2(GRIN2A):c.2554G>T (p.Val852Leu) rs150316865
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr)

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