GABBR2 — 1133 ClinVar variants

All ClinVar germline GABBR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 380 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 38 Conflicting · 129 Benign · 28 Benign/Likely benign · 488 Likely benign · 434 Uncertain significance

Full GABBR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 380

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 29

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GABBR2 p.Ala753Ser Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Arg304Gln Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Arg346Gln Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Arg381Gln Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Arg622Gln Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Arg642Cys Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Arg642Leu Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Asn453Ser Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Asn698Ser Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Gln147His Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Gln9Glu Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Glu270Lys Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Gly38Glu Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Gly693Arg Conflicting Single submitter
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Gly8Glu Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.His393Asp Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Ile315Val Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Leu23Pro Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Leu56Ile Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Leu854Phe Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Lys547Asn Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Pro12Ser Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Pro15Ser Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Pro19Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 59
GABBR2 p.Pro20Ser Conflicting Single submitter
Inborn genetic diseases
GABBR2 p.Ser913Gly Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Thr455Asn Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Val134Ile Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Val205Ile Conflicting Single submitter
Epileptic encephalopathy

Predictors lean, ClinVar uncertain 252

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 252

GABBR2 p.Ala570Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Ala580Ser Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ala69Pro Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ala912Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Arg197Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Arg301His Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Arg44Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 59
GABBR2 p.Arg48Gln Uncertain significance Multiple submitters
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Arg48Trp Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Arg637Gln Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Arg787His Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Arg797His Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Arg926His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 59
GABBR2 p.Arg935Gln Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Asn180Ser Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Asn856Ser Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Asp109Asn Uncertain significance Multiple submitters
GABBR2 p.Asp223Asn Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Gln194His Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Gly413Asp Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Gly41Cys Uncertain significance Multiple submitters
tobacco addiction, susceptibility to
GABBR2 p.Gly492Arg Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Gly671Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.His294Tyr Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ile251Val Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Leu252His Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Lys772Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Met259Thr Uncertain significance Multiple submitters
GABBR2 p.Met514Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Pro287Leu Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Pro287Thr Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Pro49Leu Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Pro55Ser Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ser53Asn Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ser72Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Thr455Ala Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Thr565Met Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Thr65Asn Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Thr785Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Tyr663His Uncertain significance Multiple submitters
GABBR2 p.Val349Met Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Val741Met Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Val915Phe Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ala143Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala297Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala2Thr Uncertain significance Single submitter
GABBR2 p.Ala309Val Uncertain significance Single submitter
GABBR2 p.Ala36Val Uncertain significance Single submitter
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Ala39Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala43Pro Uncertain significance Single submitter
GABBR2 p.Ala43Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala46Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala46Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala46Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala498Thr Uncertain significance Single submitter
GABBR2 p.Ala635Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala685Ser Uncertain significance Single submitter
GABBR2 p.Ala69Val Uncertain significance Single submitter
GABBR2 p.Ala783Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala852Pro Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala923Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg197Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg22His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg301Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg304Pro Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg340Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg346Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg371Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg384Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg418Trp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg435Met Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg44Pro Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg48Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg507Pro Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg642Gly Uncertain significance Single submitter
GABBR2 p.Arg642His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg748Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg758Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg759Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg95Leu Uncertain significance Single submitter
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Asn343Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn344Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn407Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn698His Uncertain significance Single submitter
GABBR2-related disorder
GABBR2 p.Asn781His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn829Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn829Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn835Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn839Lys Uncertain significance Single submitter
GABBR2 p.Asn842Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn856Ile Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn90Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp100Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp223Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp223His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp466Val Uncertain significance Single submitter
GABBR2 p.Asp770Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp836Tyr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp859Gly Uncertain significance Single submitter
GABBR2 p.Cys108Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Cys266Tyr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Cys610Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Cys610Tyr Uncertain significance Single submitter
GABBR2 p.Cys875Ser Uncertain significance Single submitter
GABBR2 p.Cys875Trp Uncertain significance Single submitter
Inborn genetic diseases
GABBR2 p.Gln147Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln292Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln326Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln414Glu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln509His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln761Arg Uncertain significance Single submitter
Inborn genetic diseases
GABBR2 p.Gln764Glu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln815Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln863His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln9Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu269Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu286Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu286Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu286Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu291Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu341Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu374Gly Uncertain significance Single submitter
GABBR2 p.Glu462Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu646Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu789Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu804Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu833Asp Uncertain significance Single submitter
GABBR2 p.Glu833Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Glu91Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly253Ser Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly274Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly283Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly283Val Uncertain significance Single submitter
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Gly332Glu Uncertain significance Single submitter
GABBR2 p.Gly356Arg Uncertain significance Single submitter
Inborn genetic diseases
GABBR2 p.Gly410Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly526Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly603Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly603Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.His192Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.His294Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.His382Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.His579Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.His830Tyr Uncertain significance Single submitter
GABBR2 p.His929Gln Uncertain significance Single submitter
GABBR2 p.Ile142Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ile484Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ile504Asn Uncertain significance Single submitter
GABBR2 p.Ile504Val Uncertain significance Single submitter
GABBR2 p.Ile592Phe Uncertain significance Single submitter
Epileptic encephalopathy

Predictors split 99

The independent predictors disagree with each other — read with care.

GABBR2 p.Ala444Thr Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ala707Thr Pathogenic/Likely pathogenic Multiple submitters
developmental and epileptic encephalopathy, 59
GABBR2 p.Ala708Ser Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Arg637Trp Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Asp119Asn Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Gly602Ala Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Met668Val Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Pro18Gln Likely benign Multiple submitters
Epileptic encephalopathy
GABBR2 p.Pro96Leu Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Tyr273Cys Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Tyr661Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GABBR2 p.Val152Leu Uncertain significance Multiple submitters
Epileptic encephalopathy
GABBR2 p.Ala164Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala181Glu Uncertain significance Single submitter
GABBR2 p.Ala260Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala358Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala366Thr Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Ala446Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ala573Thr Likely benign Single submitter
Epileptic encephalopathy
GABBR2 p.Ala708Thr Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Ala902Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg207Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg212Gln Likely pathogenic Single submitter
Inborn genetic diseases
GABBR2 p.Arg304Trp Likely benign Single submitter
Epileptic encephalopathy
GABBR2 p.Arg381Trp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg384Trp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg475Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg507Gln Benign Single submitter
Epileptic encephalopathy
GABBR2 p.Arg556Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg890His Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Arg891Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Arg891Trp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn110His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn150Asp Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn306Tyr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asn404Lys Uncertain significance Single submitter
Inborn genetic diseases
GABBR2 p.Asp223Tyr Uncertain significance Single submitter
GABBR2 p.Asp228Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp318Ala Uncertain significance Single submitter
GABBR2 p.Asp608Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp619Glu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Asp688Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Cys703Gly Uncertain significance Single submitter
GABBR2 p.Gln203Arg Uncertain significance Single submitter
GABBR2 p.Gln254Arg Uncertain significance Single submitter
GABBR2 p.Gln414Pro Uncertain significance Single submitter
GABBR2 p.Gln595Arg Likely benign Single submitter
Epileptic encephalopathy
GABBR2 p.Gln817Pro Likely benign Single submitter
Epileptic encephalopathy
GABBR2 p.Gln889His Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gln895Lys Uncertain significance Single submitter
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Glu230Lys Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly133Ser Uncertain significance Single submitter
GABBR2 p.Gly313Ser Uncertain significance Single submitter
GABBR2 p.Gly356Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly420Arg Likely benign Single submitter
Epileptic encephalopathy
GABBR2 p.Gly636Glu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly700Glu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly74Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Gly940Asp Uncertain significance Single submitter
Inborn genetic diseases
GABBR2 p.His127Tyr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.His355Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 59
GABBR2 p.His652Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ile141Thr Conflicting Single submitter
Epileptic encephalopathy
GABBR2 p.Ile186Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ile581Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ile692Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ile837Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Leu28Gln Uncertain significance Single submitter
GABBR2 p.Leu400Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Leu449Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Leu61Phe Uncertain significance Single submitter
GABBR2 p.Lys112Ile Uncertain significance Single submitter
GABBR2 p.Lys115Glu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Lys242Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Lys333Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Lys353Asn Uncertain significance Single submitter
GABBR2 p.Lys510Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Lys593Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Met272Val Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Met311Thr Uncertain significance Single submitter
neurodevelopmental disorder with poor language and loss of hand skills
GABBR2 p.Met373Ile Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Met423Thr Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Met59Ile Benign Single submitter
GABBR2 p.Phe264Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Phe670Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Phe934Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Pro19Gln Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Pro282Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ser231Asn Uncertain significance Single submitter
GABBR2 p.Ser352Gly Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ser732Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 59
GABBR2 p.Ser924Arg Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Ser939Leu Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Thr200Met Benign Single submitter
Epileptic encephalopathy
GABBR2 p.Thr229Asn Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Thr489Ile Likely benign Single submitter
Epileptic encephalopathy
GABBR2 p.Thr713Ala Uncertain significance Single submitter
Epileptic encephalopathy
GABBR2 p.Val415Leu Uncertain significance Single submitter
GABBR2 p.Ser324Phe Uncertain significance No assertion criteria
GABBR2-related disorder

All GABBR2 variants

Pathogenic 5

p.Ala567Thr Multiple submitters developmental and epileptic encephalopathy, 59
p.Gly693Trp Multiple submitters Epileptic encephalopathy
p.Ala567Val Single submitter Epileptic encephalopathy
p.Ile705Asn No assertion criteria developmental and epileptic encephalopathy, 59
p.Ser695Ile No assertion criteria developmental and epileptic encephalopathy, 59

Pathogenic/Likely pathogenic 2

p.Ala707Thr Multiple submitters developmental and epileptic encephalopathy, 59 ⚠
p.Ser695Asn Multiple submitters GABBR2-related disorder

Likely pathogenic 9

p.Met702Val Multiple submitters GABBR2-related disorder
p.Arg212Gln Single submitter Inborn genetic diseases ⚠
p.Asp165Tyr Single submitter neurodevelopmental disorder with poor language and loss of hand skills
p.Glu677Lys Single submitter developmental and epileptic encephalopathy, 59
p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer Single submitter developmental and epileptic encephalopathy, 59
p.Met702Ile Single submitter intellectual disability
p.Thr334Ile Single submitter Epileptic encephalopathy
p.Thr575Ser Single submitter developmental and epileptic encephalopathy, 59
p.Tyr691Cys Single submitter developmental and epileptic encephalopathy, 59

Conflicting classifications of pathogenicity 38

c.1000-3C>T Single submitter neurodevelopmental disorder with poor language and loss of hand skills
c.2412+3A>G Single submitter Epileptic encephalopathy
p.Ala366Thr Single submitter Epileptic encephalopathy ⚠
p.Ala708Thr Single submitter Epileptic encephalopathy ⚠
p.Ala753Ser Single submitter Epileptic encephalopathy ⚠
p.Ala80= Single submitter
p.Arg304Gln Single submitter Inborn genetic diseases ⚠
p.Arg346Gln Single submitter Epileptic encephalopathy ⚠
p.Arg381Gln Single submitter Epileptic encephalopathy ⚠
p.Arg622Gln Single submitter Inborn genetic diseases ⚠
p.Arg642Cys Single submitter Epileptic encephalopathy ⚠
p.Arg642Leu Single submitter Inborn genetic diseases ⚠
p.Arg890His Single submitter Epileptic encephalopathy ⚠
p.Asn453Ser Single submitter Epileptic encephalopathy ⚠
p.Asn698Ser Single submitter Epileptic encephalopathy ⚠
p.Gln147His Single submitter Epileptic encephalopathy ⚠
p.Gln9Glu Single submitter Epileptic encephalopathy ⚠
p.Glu270Lys Single submitter Epileptic encephalopathy ⚠
p.Gly38Glu Single submitter Inborn genetic diseases ⚠
p.Gly693Arg Single submitter neurodevelopmental disorder with poor language and loss of hand skills ⚠
p.Gly8Glu Single submitter Epileptic encephalopathy ⚠
p.His393Asp Single submitter Inborn genetic diseases ⚠
p.Ile141Thr Single submitter Epileptic encephalopathy ⚠
p.Ile315Val Single submitter Epileptic encephalopathy ⚠
p.Leu23Pro Single submitter Epileptic encephalopathy ⚠
p.Leu56Ile Single submitter Epileptic encephalopathy ⚠
p.Leu854Phe Single submitter Epileptic encephalopathy ⚠
p.Lys547Asn Single submitter Inborn genetic diseases ⚠
p.Pro12Ser Single submitter Inborn genetic diseases ⚠
p.Pro15Ser Single submitter Inborn genetic diseases ⚠
p.Pro19Leu Single submitter developmental and epileptic encephalopathy, 59 ⚠
p.Pro20del Single submitter neurodevelopmental disorder with poor language and loss of hand skills
p.Pro20Ser Single submitter Inborn genetic diseases ⚠
p.Pro632= Single submitter Epileptic encephalopathy
p.Ser913Gly Single submitter Epileptic encephalopathy ⚠
p.Thr455Asn Single submitter Epileptic encephalopathy ⚠
p.Val134Ile Single submitter Epileptic encephalopathy ⚠
p.Val205Ile Single submitter Epileptic encephalopathy ⚠

Benign 129

c.1000-123T>C Multiple submitters
c.1000-218G>A Multiple submitters
c.1236+86A>G Multiple submitters
c.1237-154T>C Multiple submitters
c.1298-263T>C Multiple submitters
c.1378+39A>C Multiple submitters
c.1379-21T>A Multiple submitters
c.1379-96G>A Multiple submitters
c.1529+177T>C Multiple submitters
c.1530-6T>C Multiple submitters Epileptic encephalopathy
c.1662+111C>G Multiple submitters
c.1663-334G>A Multiple submitters
c.1663-78C>T Multiple submitters
c.1770+175G>A Multiple submitters
c.1770+201G>A Multiple submitters
c.1770+228G>A Multiple submitters
c.1771-29G>A Multiple submitters
c.1893+250G>A Multiple submitters
c.2004+40T>A Multiple submitters
c.2005-22C>T Multiple submitters developmental and epileptic encephalopathy, 59
c.2230-102A>G Multiple submitters
c.2412+19G>A Multiple submitters Epileptic encephalopathy
c.2413-14C>T Multiple submitters Epileptic encephalopathy
c.2413-30C>G Multiple submitters
c.2413-4G>C Multiple submitters Epileptic encephalopathy
c.2660+58A>C Multiple submitters
c.2661-45G>C Multiple submitters
c.2661-56T>C Multiple submitters
c.2661-92C>T Multiple submitters
c.321+51G>T Multiple submitters
c.322-14G>A Multiple submitters Epileptic encephalopathy
c.322-71T>C Multiple submitters
c.322-86T>C Multiple submitters
c.460-23G>A Multiple submitters
c.631-60G>A Multiple submitters
c.631-7C>T Multiple submitters Epileptic encephalopathy
c.631-85A>G Multiple submitters
c.733-85A>C Multiple submitters
c.798+193A>G Multiple submitters
c.999+73A>G Multiple submitters
c.*305A>C Multiple submitters
c.*307A>C Multiple submitters
c.*310A>C Multiple submitters
c.*8A>G Multiple submitters
p.Ala120= Multiple submitters Epileptic encephalopathy
p.Leu529= Multiple submitters Epileptic encephalopathy
p.Pro161= Multiple submitters Epileptic encephalopathy
p.Pro684= Multiple submitters Epileptic encephalopathy
p.Ser461= Multiple submitters Epileptic encephalopathy
p.Thr869Ala Multiple submitters Epileptic encephalopathy
c.1236+280T>C Single submitter
c.1237-14del Single submitter Epileptic encephalopathy
c.1237-214T>C Single submitter
c.1237-237A>G Single submitter
c.1297+178del Single submitter
c.1378+16T>C Single submitter Epileptic encephalopathy
c.1529+193CA[16] Single submitter
c.1529+193CA[17] Single submitter
c.1529+193CA[18] Single submitter
c.1529+193CA[19] Single submitter
c.1529+193CA[20] Single submitter
c.1529+196A>G Single submitter
c.1529+46C>T Single submitter
c.1530-131G>A Single submitter
c.1530-319G>A Single submitter
c.1662+134_1662+135insC Single submitter
c.1662+15A>G Single submitter Epileptic encephalopathy
c.1663-301_1663-294del Single submitter
c.1770+29T>C Single submitter
c.1770+6C>T Single submitter Epileptic encephalopathy
c.1771-259C>T Single submitter
c.1771-286G>A Single submitter
c.1771-314A>G Single submitter
c.1893+234_1893+235dup Single submitter
c.2005-340A>C Single submitter
c.2229+108del Single submitter
c.2229+142G>A Single submitter
c.2229+301dup Single submitter
c.2229+312del Single submitter
c.2229+8C>T Single submitter Epileptic encephalopathy
c.2229+98_2229+99dup Single submitter
c.2230-18dup Single submitter Epileptic encephalopathy
c.2230-197G>A Single submitter
c.2230-23C>T Single submitter
c.2412+204C>T Single submitter
c.2412+5C>T Single submitter Epileptic encephalopathy
c.2413-170C>T Single submitter
c.2413-21A>G Single submitter
c.2413-295G>T Single submitter
c.2413-301T>G Single submitter
c.2413-316T>G Single submitter
c.2660+10T>G Single submitter Epileptic encephalopathy
c.2660+23T>C Single submitter
c.321+3G>T Single submitter Epileptic encephalopathy
c.459+147A>T Single submitter
c.459+213A>G Single submitter
c.459+270C>T Single submitter
c.459+309G>C Single submitter
c.459+51C>G Single submitter
c.460-12del Single submitter Epileptic encephalopathy
c.630+305dup Single submitter
c.631-160G>A Single submitter
c.631-185G>A Single submitter
c.631-35A>C Single submitter
c.732+220A>G Single submitter
c.798+44C>T Single submitter
c.799-164A>T Single submitter
c.999+105A>G Single submitter
c.999+283T>A Single submitter
c.-173CGC[4] Single submitter
c.*299_*300insC Single submitter
c.*300A>C Single submitter
c.*302_*303insC Single submitter
c.*303_*304insC Single submitter
p.Ala852Thr Single submitter Epileptic encephalopathy
p.Ala923Thr Single submitter Epileptic encephalopathy
p.Arg435Lys Single submitter Epileptic encephalopathy
p.Arg507Gln Single submitter Epileptic encephalopathy ⚠
p.Asn110Ser Single submitter Epileptic encephalopathy
p.Gly316= Single submitter Epileptic encephalopathy
p.Gly909= Single submitter Epileptic encephalopathy
p.Ile490Val Single submitter Epileptic encephalopathy
p.Leu644Val Single submitter Epileptic encephalopathy
p.Met311Val Single submitter Epileptic encephalopathy
p.Met59Ile Single submitter ⚠
p.Pro282= Single submitter Epileptic encephalopathy
p.Thr200Met Single submitter Epileptic encephalopathy ⚠
p.Thr391= Single submitter Epileptic encephalopathy
p.Tyr663= Single submitter Epileptic encephalopathy

Benign/Likely benign 28

c.1237-8G>A Multiple submitters Epileptic encephalopathy
c.1770+12C>A Multiple submitters Epileptic encephalopathy
c.2542+4A>G Multiple submitters Epileptic encephalopathy
c.2542+6del Multiple submitters Epileptic encephalopathy
c.2661-13T>C Multiple submitters Epileptic encephalopathy
c.2661-20C>T Multiple submitters Epileptic encephalopathy
c.630+4C>T Multiple submitters Epileptic encephalopathy
c.*7G>A Multiple submitters
p.Asn110= Multiple submitters Epileptic encephalopathy
p.Asn298= Multiple submitters Epileptic encephalopathy
p.Asn404= Multiple submitters Epileptic encephalopathy
p.Asp859Asn Multiple submitters Epileptic encephalopathy
p.Glu462Lys Multiple submitters Epileptic encephalopathy
p.Glu646= Multiple submitters Epileptic encephalopathy
p.Gly133= Multiple submitters Epileptic encephalopathy
p.Gly221= Multiple submitters Epileptic encephalopathy
p.His294= Multiple submitters Epileptic encephalopathy
p.Ile641Val Multiple submitters Epileptic encephalopathy
p.Ile659= Multiple submitters Epileptic encephalopathy
p.Ile879Val Multiple submitters Inborn genetic diseases
p.Leu491= Multiple submitters Epileptic encephalopathy
p.Lys589= Multiple submitters Epileptic encephalopathy
p.Pro17= Multiple submitters Epileptic encephalopathy
p.Thr295Met Multiple submitters Inborn genetic diseases
p.Thr391Met Multiple submitters Epileptic encephalopathy
p.Thr554= Multiple submitters Epileptic encephalopathy
p.Thr773Met Multiple submitters Epileptic encephalopathy
p.Val919Ile Multiple submitters Epileptic encephalopathy

Likely benign 488

Showing the top 300 by review status; the full set is in the sitemap.

c.1236+13C>T Multiple submitters Epileptic encephalopathy
c.1297+110A>G Multiple submitters
c.1378+25G>A Multiple submitters
c.1378+58C>T Multiple submitters
c.1378+91C>T Multiple submitters
c.1529+137G>A Multiple submitters
c.1529+94G>A Multiple submitters
c.1662+20C>T Multiple submitters Epileptic encephalopathy
c.1662+60C>T Multiple submitters
c.1770+7A>G Multiple submitters Epileptic encephalopathy
c.1771-9G>A Multiple submitters Epileptic encephalopathy
c.1894-10_1894-9del Multiple submitters Epileptic encephalopathy
c.2542+137G>A Multiple submitters
c.2542+18C>T Multiple submitters Epileptic encephalopathy
c.2542+7G>A Multiple submitters Epileptic encephalopathy
c.459+18T>G Multiple submitters Epileptic encephalopathy
c.630+9G>A Multiple submitters Epileptic encephalopathy
c.631-8G>A Multiple submitters Epileptic encephalopathy
c.*308A>C Multiple submitters
p.Ala446= Multiple submitters Inborn genetic diseases
p.Ala707= Multiple submitters Epileptic encephalopathy
p.Arg556= Multiple submitters Epileptic encephalopathy
p.Arg873Gln Multiple submitters Inborn genetic diseases
p.Arg890= Multiple submitters Epileptic encephalopathy
p.Asn234= Multiple submitters Epileptic encephalopathy
p.Asn389= Multiple submitters Epileptic encephalopathy
p.Asn443= Multiple submitters Epileptic encephalopathy
p.Asn650= Multiple submitters Epileptic encephalopathy
p.Asn765= Multiple submitters Epileptic encephalopathy
p.Asn781= Multiple submitters Epileptic encephalopathy
p.Asp877= Multiple submitters Epileptic encephalopathy
p.Cys108= Multiple submitters Epileptic encephalopathy
p.Cys918= Multiple submitters Epileptic encephalopathy
p.Glu67= Multiple submitters Epileptic encephalopathy
p.Gly245= Multiple submitters Epileptic encephalopathy
p.Gly348= Multiple submitters Epileptic encephalopathy
p.His901= Multiple submitters Epileptic encephalopathy
p.His929Arg Multiple submitters Epileptic encephalopathy
p.Ile141= Multiple submitters Epileptic encephalopathy
p.Ile607= Multiple submitters Epileptic encephalopathy
p.Leu307= Multiple submitters Epileptic encephalopathy
p.Lys801= Multiple submitters Epileptic encephalopathy
p.Lys822= Multiple submitters Epileptic encephalopathy
p.Phe409= Multiple submitters Epileptic encephalopathy
p.Pro16= Multiple submitters Epileptic encephalopathy
p.Pro18Gln Multiple submitters Epileptic encephalopathy ⚠
p.Pro19_Pro20dup Multiple submitters Epileptic encephalopathy
p.Pro47= Multiple submitters Epileptic encephalopathy
p.Ser893= Multiple submitters Epileptic encephalopathy
p.Thr295= Multiple submitters Epileptic encephalopathy
p.Thr565= Multiple submitters Epileptic encephalopathy
p.Thr755= Multiple submitters Epileptic encephalopathy
p.Thr755Met Multiple submitters Epileptic encephalopathy
p.Thr922= Multiple submitters Epileptic encephalopathy
p.Tyr118= Multiple submitters Epileptic encephalopathy
p.Tyr123= Multiple submitters Epileptic encephalopathy
p.Tyr171= Multiple submitters Epileptic encephalopathy
p.Tyr285= Multiple submitters Epileptic encephalopathy
p.Tyr357= Multiple submitters Epileptic encephalopathy
p.Val910Met Multiple submitters Epileptic encephalopathy
c.1000-12_1000-11del Single submitter Epileptic encephalopathy
c.1000-13C>T Single submitter Epileptic encephalopathy
c.1000-18A>C Single submitter Epileptic encephalopathy
c.1000-300G>A Single submitter
c.1000-5T>C Single submitter Epileptic encephalopathy
c.1236+10A>G Single submitter Epileptic encephalopathy
c.1236+10A>T Single submitter Epileptic encephalopathy
c.1236+14C>T Single submitter Epileptic encephalopathy
c.1237-17T>C Single submitter Epileptic encephalopathy
c.1237-18G>T Single submitter Epileptic encephalopathy
c.1237-18GTTTT[4] Single submitter Epileptic encephalopathy
c.1237-22_1237-18del Single submitter Epileptic encephalopathy
c.1297+14T>C Single submitter Epileptic encephalopathy
c.1297+14T>G Single submitter Epileptic encephalopathy
c.1298-16C>T Single submitter Epileptic encephalopathy
c.1298-4A>G Single submitter Epileptic encephalopathy
c.1378+10G>A Single submitter Epileptic encephalopathy
c.1378+17_1378+18delinsAA Single submitter Epileptic encephalopathy
c.1378+17T>G Single submitter
c.1379-14T>C Single submitter Epileptic encephalopathy
c.1379-16T>C Single submitter Epileptic encephalopathy
c.1379-20G>A Single submitter Epileptic encephalopathy
c.1379-38G>A Single submitter
c.1379-8T>C Single submitter Epileptic encephalopathy
c.1529+13G>C Single submitter Epileptic encephalopathy
c.1529+14G>A Single submitter Epileptic encephalopathy
c.1529+17C>T Single submitter Epileptic encephalopathy
c.1529+17del Single submitter Epileptic encephalopathy
c.1529+193CA[23] Single submitter
c.1529+19C>T Single submitter Epileptic encephalopathy
c.1529+20_1529+22del Single submitter Epileptic encephalopathy
c.1529+7C>T Single submitter Epileptic encephalopathy
c.1529+8A>G Single submitter Epileptic encephalopathy
c.1529+9C>A Single submitter Epileptic encephalopathy
c.1530-12_1530-11del Single submitter Epileptic encephalopathy
c.1530-13T>C Single submitter Epileptic encephalopathy
c.1530-16C>A Single submitter Epileptic encephalopathy
c.1530-5G>T Single submitter Epileptic encephalopathy
c.1530-7T>G Single submitter Epileptic encephalopathy
c.1530-8C>T Single submitter Epileptic encephalopathy
c.1663-10T>C Single submitter Epileptic encephalopathy
c.1663-11A>G Single submitter Epileptic encephalopathy
c.1663-21_1663-20del Single submitter Epileptic encephalopathy
c.1663-43T>C Single submitter
c.1663-45T>C Single submitter
c.1663-4C>G Single submitter Epileptic encephalopathy
c.1663-8G>A Single submitter
c.1770+15_1770+17del Single submitter Epileptic encephalopathy
c.1770+17del Single submitter Epileptic encephalopathy
c.1771-15C>T Single submitter Epileptic encephalopathy
c.1771-19G>T Single submitter Epileptic encephalopathy
c.1771-4G>A Single submitter Epileptic encephalopathy
c.1771-716_1893+5del Single submitter Epileptic encephalopathy
c.1771-7T>A Single submitter Epileptic encephalopathy
c.1771-8C>T Single submitter Epileptic encephalopathy
c.1771-9G>T Single submitter Epileptic encephalopathy
c.1893+11_1893+34del Single submitter Epileptic encephalopathy
c.1893+12A>G Single submitter Epileptic encephalopathy
c.1893+14G>C Single submitter Epileptic encephalopathy
c.1893+16C>A Single submitter Epileptic encephalopathy
c.1893+16C>T Single submitter Epileptic encephalopathy
c.1893+17G>A Single submitter Epileptic encephalopathy
c.1893+7_1893+35delinsAACAATCAGAAGCTATATAAAGTTGTATACATGTCTTCCCTCCTCAGTAAACTGGGGAGGCCTAGACAGAAAGAAAGCCCATTTTATTTGTGTTCCCTCAGCACCTACCGGGGCCTGGTATGCAGTAGCTACTTAAAAGTCTGATGAATTGAATTGACATGAAAGAATATAAAAAGAAGAAATATAACTCCCATTCCTCTTTGCAGCCTGGGATATTTTTATTACTCTGTGAGACTCCTACCCCACTTTACGTCTGTTTGATAGGGATCGGCTGGGGGATAAATATTTTCGGTGCCAAAGCTGACCTGTATTTCATTCACTTCATGTTTATATATCCCCTCACTCTCCAGAAAAGCTAATGTGATGGAGTAGTTCTGGAAGAGACTCATGGAAAAACAAACAAAACTCAGGCAGAAGCTTAAGAAATATCACCAGGTTTGGTTTTTAACGATTAAAGCCATTTTTAAAG Single submitter Epileptic encephalopathy
c.1893+8_1893+31del Single submitter Epileptic encephalopathy
c.1893+9T>C Single submitter Epileptic encephalopathy
c.1894-19_1894-18del Single submitter Epileptic encephalopathy
c.1894-19C>A Single submitter Epileptic encephalopathy
c.1894-338T>C Single submitter
c.2004+12G>T Single submitter Epileptic encephalopathy
c.2004+13C>G Single submitter
c.2229+15C>T Single submitter Epileptic encephalopathy
c.2229+18A>G Single submitter Epileptic encephalopathy
c.2229+225T>C Single submitter
c.2229+8C>G Single submitter Epileptic encephalopathy
c.2229+98dup Single submitter
c.2229+9G>A Single submitter Epileptic encephalopathy
c.2230-14C>A Single submitter Epileptic encephalopathy
c.2230-15C>T Single submitter Epileptic encephalopathy
c.2230-162A>G Single submitter
c.2230-169G>A Single submitter
c.2230-19C>G Single submitter Epileptic encephalopathy
c.2230-8C>A Single submitter Epileptic encephalopathy
c.2412+12T>C Single submitter Epileptic encephalopathy
c.2412+13G>A Single submitter Epileptic encephalopathy
c.2412+7dup Single submitter Epileptic encephalopathy
c.2413-10del Single submitter Epileptic encephalopathy
c.2413-14C>A Single submitter Epileptic encephalopathy
c.2413-6T>C Single submitter Epileptic encephalopathy
c.2413-8T>C Single submitter Epileptic encephalopathy
c.2542+13G>A Single submitter Epileptic encephalopathy
c.2542+16C>T Single submitter Epileptic encephalopathy
c.2542+9G>C Single submitter Epileptic encephalopathy
c.2542+9G>T Single submitter Epileptic encephalopathy
c.2543-13_2543-11del Single submitter Epileptic encephalopathy
c.2543-13G>A Single submitter Epileptic encephalopathy
c.2543-14T>G Single submitter Epileptic encephalopathy
c.2543-17T>C Single submitter Epileptic encephalopathy
c.2543-19A>G Single submitter Epileptic encephalopathy
c.2543-241C>T Single submitter
c.2543-6A>C Single submitter Epileptic encephalopathy
c.2543-7C>T Single submitter Epileptic encephalopathy
c.2660+104C>T Single submitter
c.2660+20G>A Single submitter Epileptic encephalopathy
c.2660+8C>A Single submitter Epileptic encephalopathy
c.2660+8C>T Single submitter
c.2661-12C>A Single submitter Epileptic encephalopathy
c.2661-18C>A Single submitter Epileptic encephalopathy
c.321+10C>T Single submitter Epileptic encephalopathy
c.321+11G>C Single submitter Epileptic encephalopathy
c.321+16C>A Single submitter Epileptic encephalopathy
c.321+17C>T Single submitter Epileptic encephalopathy
c.321+18C>G Single submitter Epileptic encephalopathy
c.321+18C>T Single submitter Epileptic encephalopathy
c.321+20T>C Single submitter Epileptic encephalopathy
c.322-10T>C Single submitter Epileptic encephalopathy
c.322-15T>C Single submitter Epileptic encephalopathy
c.322-20_322-17del Single submitter Epileptic encephalopathy
c.322-9G>A Single submitter Epileptic encephalopathy
c.322-9G>T Single submitter Epileptic encephalopathy
c.459+11A>G Single submitter Epileptic encephalopathy
c.459+12G>A Single submitter Epileptic encephalopathy
c.459+13C>T Single submitter Epileptic encephalopathy
c.459+175A>G Single submitter
c.459+20_459+22del Single submitter Epileptic encephalopathy
c.459+20C>A Single submitter Epileptic encephalopathy
c.460-10T>C Single submitter Epileptic encephalopathy
c.460-169C>T Single submitter
c.460-17del Single submitter Epileptic encephalopathy
c.460-20G>A Single submitter Epileptic encephalopathy
c.460-6T>C Single submitter Epileptic encephalopathy
c.460-8T>C Single submitter Epileptic encephalopathy
c.630+8C>T Single submitter Epileptic encephalopathy
c.630+9G>C Single submitter Epileptic encephalopathy
c.631-10T>G Single submitter Epileptic encephalopathy
c.631-11T>C Single submitter Epileptic encephalopathy
c.631-13T>G Single submitter Epileptic encephalopathy
c.631-16T>C Single submitter Epileptic encephalopathy
c.631-17T>C Single submitter Epileptic encephalopathy
c.631-5G>A Single submitter Epileptic encephalopathy
c.631-9T>C Single submitter Epileptic encephalopathy
c.732+10G>A Single submitter Epileptic encephalopathy
c.732+14G>A Single submitter Epileptic encephalopathy
c.732+20G>T Single submitter Epileptic encephalopathy
c.732+43A>G Single submitter
c.732+8T>C Single submitter Epileptic encephalopathy
c.733-180A>G Single submitter
c.733-4A>G Single submitter Epileptic encephalopathy
c.798+16G>C Single submitter Epileptic encephalopathy
c.798+19T>A Single submitter Epileptic encephalopathy
c.798+19T>C Single submitter Epileptic encephalopathy
c.799-11A>G Single submitter Epileptic encephalopathy
c.799-13C>T Single submitter Epileptic encephalopathy
c.799-14T>G Single submitter Epileptic encephalopathy
c.799-15C>T Single submitter Epileptic encephalopathy
c.799-17C>T Single submitter Epileptic encephalopathy
c.799-20A>T Single submitter Epileptic encephalopathy
c.999+10T>C Single submitter Epileptic encephalopathy
c.999+16C>A Single submitter Epileptic encephalopathy
c.999+17C>A Single submitter Epileptic encephalopathy
c.999+286A>G Single submitter
c.999+8C>A Single submitter Epileptic encephalopathy
c.999+8C>T Single submitter Epileptic encephalopathy
c.999+9C>A Single submitter Epileptic encephalopathy
c.*19C>T Single submitter
c.*2G>A Single submitter
c.*308_*309insG Single submitter
p.Ala158= Single submitter Epileptic encephalopathy
p.Ala164= Single submitter Epileptic encephalopathy
p.Ala181= Single submitter Epileptic encephalopathy
p.Ala2= Single submitter Epileptic encephalopathy
p.Ala261Thr Single submitter Epileptic encephalopathy
p.Ala402= Single submitter Epileptic encephalopathy
p.Ala402Thr Single submitter Epileptic encephalopathy
p.Ala446Thr Single submitter Epileptic encephalopathy
p.Ala46= Single submitter Epileptic encephalopathy
p.Ala573Thr Single submitter Epileptic encephalopathy ⚠
p.Ala617= Single submitter Epileptic encephalopathy
p.Ala685= Single submitter Epileptic encephalopathy
p.Ala685Thr Single submitter Epileptic encephalopathy
p.Ala685Val Single submitter Epileptic encephalopathy
p.Ala852Val Single submitter Epileptic encephalopathy
p.Ala902= Single submitter Epileptic encephalopathy
p.Ala923Ser Single submitter
p.Arg102= Single submitter Epileptic encephalopathy
p.Arg197= Single submitter Epileptic encephalopathy
p.Arg22Cys Single submitter Epileptic encephalopathy
p.Arg249= Single submitter Epileptic encephalopathy
p.Arg301Cys Single submitter Epileptic encephalopathy
p.Arg304= Single submitter Epileptic encephalopathy
p.Arg304Trp Single submitter Epileptic encephalopathy ⚠
p.Arg384= Single submitter Epileptic encephalopathy
p.Arg418= Single submitter Epileptic encephalopathy
p.Arg435= Single submitter Epileptic encephalopathy
p.Arg44= Single submitter Epileptic encephalopathy
p.Arg475Trp Single submitter Epileptic encephalopathy
p.Arg622= Single submitter Epileptic encephalopathy
p.Arg637= Single submitter Epileptic encephalopathy
p.Arg714Gln Single submitter Epileptic encephalopathy
p.Arg873= Single submitter Epileptic encephalopathy
p.Arg926Cys Single submitter Epileptic encephalopathy
p.Arg926Pro Single submitter Epileptic encephalopathy
p.Asn213= Single submitter Epileptic encephalopathy
p.Asn271= Single submitter Epileptic encephalopathy
p.Asn271Asp Single submitter
p.Asn343= Single submitter Epileptic encephalopathy
p.Asn443Ser Single submitter Epileptic encephalopathy
p.Asn521= Single submitter Epileptic encephalopathy
p.Asn680= Single submitter Epileptic encephalopathy
p.Asn687= Single submitter Epileptic encephalopathy
p.Asn698= Single submitter Epileptic encephalopathy
p.Asn718= Single submitter Epileptic encephalopathy
p.Asn795= Single submitter Epileptic encephalopathy
p.Asn856= Single submitter Epileptic encephalopathy
p.Asp100= Single submitter Epileptic encephalopathy
p.Asp165= Single submitter Epileptic encephalopathy
p.Asp204= Single submitter Epileptic encephalopathy
p.Asp235= Single submitter Epileptic encephalopathy
p.Asp454= Single submitter Epileptic encephalopathy
p.Asp540= Single submitter Epileptic encephalopathy
p.Asp688= Single submitter
p.Asp715= Single submitter Epileptic encephalopathy
p.Asp808= Single submitter Epileptic encephalopathy
p.Asp848= Single submitter Epileptic encephalopathy
p.Asp859His Single submitter Epileptic encephalopathy
p.Asp881= Single submitter Epileptic encephalopathy
p.Asp911= Single submitter Epileptic encephalopathy
p.Cys237Gly Single submitter Epileptic encephalopathy
p.Cys648Tyr Single submitter Epileptic encephalopathy
p.Cys914Tyr Single submitter Epileptic encephalopathy
p.Gln206= Single submitter Epileptic encephalopathy
p.Gln595Arg Single submitter Epileptic encephalopathy ⚠
p.Gln761= Single submitter Epileptic encephalopathy
p.Gln766Glu Single submitter Epileptic encephalopathy
p.Gln817Pro Single submitter Epileptic encephalopathy ⚠
p.Gln828= Single submitter Epileptic encephalopathy
p.Gln865= Single submitter Epileptic encephalopathy
p.Gln889= Single submitter Epileptic encephalopathy
p.Glu222= Single submitter Epileptic encephalopathy
p.Glu320= Single submitter Epileptic encephalopathy
p.Glu436= Single submitter Epileptic encephalopathy

Uncertain significance 434

Showing the top 300 by review status; the full set is in the sitemap.

c.1662+1G>A Multiple submitters neurodevelopmental disorder with poor language and loss of hand skills
p.914CVSP[1] Multiple submitters developmental and epileptic encephalopathy, 59
p.Ala444Thr Multiple submitters Epileptic encephalopathy ⚠
p.Ala570Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala580Ser Multiple submitters Epileptic encephalopathy ⚠
p.Ala69Pro Multiple submitters Epileptic encephalopathy ⚠
p.Ala708Ser Multiple submitters Epileptic encephalopathy ⚠
p.Ala912Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg197Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg301His Multiple submitters Epileptic encephalopathy ⚠
p.Arg44Gln Multiple submitters developmental and epileptic encephalopathy, 59 ⚠
p.Arg48Gln Multiple submitters neurodevelopmental disorder with poor language and loss of hand skills ⚠
p.Arg48Trp Multiple submitters Epileptic encephalopathy ⚠
p.Arg637Gln Multiple submitters Epileptic encephalopathy ⚠
p.Arg637Trp Multiple submitters Epileptic encephalopathy ⚠
p.Arg787His Multiple submitters Epileptic encephalopathy ⚠
p.Arg797His Multiple submitters Epileptic encephalopathy ⚠
p.Arg799Gln Multiple submitters Inborn genetic diseases
p.Arg926His Multiple submitters developmental and epileptic encephalopathy, 59 ⚠
p.Arg935Gln Multiple submitters Epileptic encephalopathy ⚠
p.Asn180Ser Multiple submitters Epileptic encephalopathy ⚠
p.Asn856Ser Multiple submitters Epileptic encephalopathy ⚠
p.Asp109Asn Multiple submitters ⚠
p.Asp119Asn Multiple submitters Epileptic encephalopathy ⚠
p.Asp223Asn Multiple submitters Epileptic encephalopathy ⚠
p.Asp235Asn Multiple submitters Epileptic encephalopathy
p.Gln194His Multiple submitters Inborn genetic diseases ⚠
p.Gln194Ter Multiple submitters Epileptic encephalopathy
p.Glu320Gln Multiple submitters Inborn genetic diseases
p.Glu405Lys Multiple submitters developmental and epileptic encephalopathy, 59
p.Gly11_Pro12insGlnProGly Multiple submitters Epileptic encephalopathy
p.Gly413Asp Multiple submitters Epileptic encephalopathy ⚠
p.Gly41Cys Multiple submitters tobacco addiction, susceptibility to ⚠
p.Gly492Arg Multiple submitters Epileptic encephalopathy ⚠
p.Gly602Ala Multiple submitters Epileptic encephalopathy ⚠
p.Gly671Ser Multiple submitters Inborn genetic diseases ⚠
p.His294Tyr Multiple submitters Epileptic encephalopathy ⚠
p.Ile251Val Multiple submitters Epileptic encephalopathy ⚠
p.Ile385Phe Multiple submitters Inborn genetic diseases
p.Leu252His Multiple submitters Epileptic encephalopathy ⚠
p.Leu809Val Multiple submitters Epileptic encephalopathy
p.Lys772Arg Multiple submitters Inborn genetic diseases ⚠
p.Met259Thr Multiple submitters ⚠
p.Met514Ile Multiple submitters Inborn genetic diseases ⚠
p.Met668Val Multiple submitters Inborn genetic diseases ⚠
p.Pro287Leu Multiple submitters Epileptic encephalopathy ⚠
p.Pro287Thr Multiple submitters Epileptic encephalopathy ⚠
p.Pro49Leu Multiple submitters Epileptic encephalopathy ⚠
p.Pro55Ser Multiple submitters Epileptic encephalopathy ⚠
p.Pro925dup Multiple submitters Epileptic encephalopathy
p.Pro96Leu Multiple submitters Epileptic encephalopathy ⚠
p.Ser53Asn Multiple submitters Epileptic encephalopathy ⚠
p.Ser72Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr455Ala Multiple submitters Epileptic encephalopathy ⚠
p.Thr565Met Multiple submitters Epileptic encephalopathy ⚠
p.Thr65Asn Multiple submitters Epileptic encephalopathy ⚠
p.Thr785Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr273Cys Multiple submitters Epileptic encephalopathy ⚠
p.Tyr661Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr663His Multiple submitters ⚠
p.Val152Leu Multiple submitters Epileptic encephalopathy ⚠
p.Val349Met Multiple submitters Epileptic encephalopathy ⚠
p.Val741Met Multiple submitters Epileptic encephalopathy ⚠
p.Val915Phe Multiple submitters Epileptic encephalopathy ⚠
c.1236+4A>G Single submitter Epileptic encephalopathy
c.1378+6G>A Single submitter Epileptic encephalopathy
c.1378+6G>T Single submitter Epileptic encephalopathy
c.1893+3A>G Single submitter Epileptic encephalopathy
c.1893+6C>A Single submitter Epileptic encephalopathy
c.1894-3C>T Single submitter Epileptic encephalopathy
c.2004+4G>A Single submitter Epileptic encephalopathy
c.2005-13T>A Single submitter
c.2229+3A>G Single submitter Epileptic encephalopathy
c.2229+4C>G Single submitter Epileptic encephalopathy
c.2229+4C>T Single submitter Epileptic encephalopathy
c.2230-14_2230-9delinsTTTGG Single submitter
c.2412+1dup Single submitter
c.2413-4_2413-3delinsCC Single submitter Epileptic encephalopathy
c.2542+1G>A Single submitter
c.2542+3A>G Single submitter Epileptic encephalopathy
c.2660+2dup Single submitter Epileptic encephalopathy
c.2660+2T>G Single submitter autism spectrum disorder
c.321+1G>A Single submitter
c.322-1G>A Single submitter
c.459+4A>G Single submitter Epileptic encephalopathy
c.460-4T>C Single submitter
c.630+1G>A Single submitter Epileptic encephalopathy
c.630+6C>T Single submitter Epileptic encephalopathy
c.732+1G>C Single submitter
c.999+3C>T Single submitter Epileptic encephalopathy
c.-2G>C Single submitter
c.*1906T>C Single submitter neurodevelopmental disorder with poor language and loss of hand skills
c.*1G>C Single submitter
p.Ala143Val Single submitter Epileptic encephalopathy ⚠
p.Ala164Asp Single submitter Epileptic encephalopathy ⚠
p.Ala181Glu Single submitter ⚠
p.Ala260Gly Single submitter Epileptic encephalopathy ⚠
p.Ala297Gly Single submitter Epileptic encephalopathy ⚠
p.Ala2Thr Single submitter ⚠
p.Ala309Val Single submitter ⚠
p.Ala358Thr Single submitter Epileptic encephalopathy ⚠
p.Ala36Val Single submitter neurodevelopmental disorder with poor language and loss of hand skills ⚠
p.Ala39Ser Single submitter Epileptic encephalopathy ⚠
p.Ala43Pro Single submitter ⚠
p.Ala43Val Single submitter Epileptic encephalopathy ⚠
p.Ala444Ser Single submitter
p.Ala446Asp Single submitter Epileptic encephalopathy ⚠
p.Ala46Gly Single submitter Epileptic encephalopathy ⚠
p.Ala46Thr Single submitter Epileptic encephalopathy ⚠
p.Ala46Val Single submitter Epileptic encephalopathy ⚠
p.Ala498Thr Single submitter ⚠
p.Ala635Val Single submitter Epileptic encephalopathy ⚠
p.Ala685Ser Single submitter ⚠
p.Ala69Val Single submitter ⚠
p.Ala707fs Single submitter
p.Ala783Gly Single submitter Epileptic encephalopathy ⚠
p.Ala852Pro Single submitter Epileptic encephalopathy ⚠
p.Ala902Thr Single submitter Epileptic encephalopathy ⚠
p.Ala923Val Single submitter Epileptic encephalopathy ⚠
p.Arg197Leu Single submitter Epileptic encephalopathy ⚠
p.Arg207Thr Single submitter Epileptic encephalopathy ⚠
p.Arg22His Single submitter Epileptic encephalopathy ⚠
p.Arg301Leu Single submitter Epileptic encephalopathy ⚠
p.Arg304Pro Single submitter Epileptic encephalopathy ⚠
p.Arg340Gly Single submitter Epileptic encephalopathy ⚠
p.Arg346Leu Single submitter Epileptic encephalopathy ⚠
p.Arg346Trp Single submitter Epileptic encephalopathy
p.Arg371Lys Single submitter Epileptic encephalopathy ⚠
p.Arg381Trp Single submitter Epileptic encephalopathy ⚠
p.Arg384Gln Single submitter Epileptic encephalopathy ⚠
p.Arg384Trp Single submitter Epileptic encephalopathy ⚠
p.Arg418Gln Single submitter Epileptic encephalopathy
p.Arg418Trp Single submitter Epileptic encephalopathy ⚠
p.Arg435Met Single submitter Epileptic encephalopathy ⚠
p.Arg44Pro Single submitter Epileptic encephalopathy ⚠
p.Arg457Ser Single submitter Epileptic encephalopathy
p.Arg475Gln Single submitter Epileptic encephalopathy
p.Arg475Leu Single submitter Epileptic encephalopathy ⚠
p.Arg48Gly Single submitter Epileptic encephalopathy ⚠
p.Arg507Pro Single submitter Epileptic encephalopathy ⚠
p.Arg556Lys Single submitter Epileptic encephalopathy ⚠
p.Arg642Gly Single submitter ⚠
p.Arg642His Single submitter Epileptic encephalopathy ⚠
p.Arg748Lys Single submitter Epileptic encephalopathy ⚠
p.Arg758Lys Single submitter Epileptic encephalopathy ⚠
p.Arg759Gln Single submitter Epileptic encephalopathy ⚠
p.Arg891Gln Single submitter Epileptic encephalopathy ⚠
p.Arg891Trp Single submitter Epileptic encephalopathy ⚠
p.Arg935Ter Single submitter Epileptic encephalopathy
p.Arg95Leu Single submitter neurodevelopmental disorder with poor language and loss of hand skills ⚠
p.Asn110His Single submitter Epileptic encephalopathy ⚠
p.Asn150Asp Single submitter Epileptic encephalopathy ⚠
p.Asn306Tyr Single submitter Epileptic encephalopathy ⚠
p.Asn343Ser Single submitter Epileptic encephalopathy ⚠
p.Asn344del Single submitter Epileptic encephalopathy
p.Asn344Lys Single submitter Epileptic encephalopathy ⚠
p.Asn404Lys Single submitter Inborn genetic diseases ⚠
p.Asn407Ser Single submitter Epileptic encephalopathy ⚠
p.Asn698His Single submitter GABBR2-related disorder ⚠
p.Asn781His Single submitter Epileptic encephalopathy ⚠
p.Asn829Lys Single submitter Epileptic encephalopathy ⚠
p.Asn829Ser Single submitter Epileptic encephalopathy ⚠
p.Asn835Ser Single submitter Epileptic encephalopathy ⚠
p.Asn839Lys Single submitter ⚠
p.Asn842Lys Single submitter Epileptic encephalopathy ⚠
p.Asn856Ile Single submitter Epileptic encephalopathy ⚠
p.Asn90Ser Single submitter Epileptic encephalopathy ⚠
p.Asp100Asn Single submitter Epileptic encephalopathy ⚠
p.Asp223Ala Single submitter Epileptic encephalopathy ⚠
p.Asp223His Single submitter Epileptic encephalopathy ⚠
p.Asp223Tyr Single submitter ⚠
p.Asp228Gly Single submitter Epileptic encephalopathy ⚠
p.Asp318_Phe319del Single submitter Epileptic encephalopathy
p.Asp318Ala Single submitter ⚠
p.Asp447Asn Single submitter Epileptic encephalopathy
p.Asp466Val Single submitter ⚠
p.Asp608Asn Single submitter Epileptic encephalopathy ⚠
p.Asp619Glu Single submitter Epileptic encephalopathy ⚠
p.Asp688Asn Single submitter Epileptic encephalopathy ⚠
p.Asp770Asn Single submitter Epileptic encephalopathy ⚠
p.Asp818Asn Single submitter Epileptic encephalopathy
p.Asp836Tyr Single submitter Epileptic encephalopathy ⚠
p.Asp859Gly Single submitter ⚠
p.Cys108Arg Single submitter Epileptic encephalopathy ⚠
p.Cys108Ter Single submitter intellectual disability
p.Cys266Tyr Single submitter Epileptic encephalopathy ⚠
p.Cys553fs Single submitter Epileptic encephalopathy
p.Cys610Arg Single submitter Epileptic encephalopathy ⚠
p.Cys610Tyr Single submitter ⚠
p.Cys648_Glu649delinsTer Single submitter Epileptic encephalopathy
p.Cys703Gly Single submitter ⚠
p.Cys875Ser Single submitter ⚠
p.Cys875Trp Single submitter Inborn genetic diseases ⚠
p.Cys918Arg Single submitter Epileptic encephalopathy
p.Gln147Arg Single submitter Epileptic encephalopathy ⚠
p.Gln203Arg Single submitter ⚠
p.Gln254Arg Single submitter ⚠
p.Gln292Leu Single submitter Epileptic encephalopathy ⚠
p.Gln326Arg Single submitter Epileptic encephalopathy ⚠
p.Gln370Ter Single submitter Epileptic encephalopathy
p.Gln414Glu Single submitter Epileptic encephalopathy ⚠
p.Gln414Pro Single submitter ⚠
p.Gln509His Single submitter Epileptic encephalopathy ⚠
p.Gln716Glu Single submitter Inborn genetic diseases
p.Gln761Arg Single submitter Inborn genetic diseases ⚠
p.Gln764Glu Single submitter Epileptic encephalopathy ⚠
p.Gln815Lys Single submitter Epileptic encephalopathy ⚠
p.Gln863His Single submitter Epileptic encephalopathy ⚠
p.Gln865fs Single submitter
p.Gln889His Single submitter Epileptic encephalopathy ⚠
p.Gln895Lys Single submitter neurodevelopmental disorder with poor language and loss of hand skills ⚠
p.Gln9Leu Single submitter Epileptic encephalopathy ⚠
p.Glu107= Single submitter Epileptic encephalopathy
p.Glu230Lys Single submitter Epileptic encephalopathy ⚠
p.Glu269Lys Single submitter Epileptic encephalopathy ⚠
p.Glu286Asp Single submitter Epileptic encephalopathy ⚠
p.Glu286Gln Single submitter Epileptic encephalopathy ⚠
p.Glu286Lys Single submitter Epileptic encephalopathy ⚠
p.Glu291Lys Single submitter Epileptic encephalopathy ⚠
p.Glu341Gln Single submitter Epileptic encephalopathy ⚠
p.Glu374Gly Single submitter ⚠
p.Glu450Lys Single submitter Inborn genetic diseases
p.Glu462Asp Single submitter Epileptic encephalopathy ⚠
p.Glu550fs Single submitter intellectual disability
p.Glu646Asp Single submitter Epileptic encephalopathy ⚠
p.Glu789Asp Single submitter Epileptic encephalopathy ⚠
p.Glu804Ala Single submitter Epileptic encephalopathy ⚠
p.Glu821Lys Single submitter Epileptic encephalopathy
p.Glu833Asp Single submitter ⚠
p.Glu833Gln Single submitter Epileptic encephalopathy ⚠
p.Glu91Lys Single submitter Epileptic encephalopathy ⚠
p.Gly133Ser Single submitter ⚠
p.Gly253Ser Single submitter Epileptic encephalopathy ⚠
p.Gly274Ala Single submitter Epileptic encephalopathy ⚠
p.Gly283Arg Single submitter Epileptic encephalopathy ⚠
p.Gly283Val Single submitter neurodevelopmental disorder with poor language and loss of hand skills ⚠
p.Gly313Ser Single submitter ⚠
p.Gly332Glu Single submitter ⚠
p.Gly356Ala Single submitter Epileptic encephalopathy ⚠
p.Gly356Arg Single submitter Inborn genetic diseases ⚠
p.Gly410Arg Single submitter Epileptic encephalopathy ⚠
p.Gly526Ala Single submitter Epileptic encephalopathy ⚠
p.Gly563fs Single submitter
p.Gly603Asp Single submitter Epileptic encephalopathy ⚠
p.Gly603Val Single submitter Epileptic encephalopathy ⚠
p.Gly636Glu Single submitter Epileptic encephalopathy ⚠
p.Gly658Ser Single submitter Epileptic encephalopathy
p.Gly700Glu Single submitter Epileptic encephalopathy ⚠
p.Gly74Ala Single submitter Epileptic encephalopathy ⚠
p.Gly940Asp Single submitter Inborn genetic diseases ⚠
p.His127Tyr Single submitter Epileptic encephalopathy ⚠
p.His192Gln Single submitter Epileptic encephalopathy ⚠
p.His294Arg Single submitter Epileptic encephalopathy ⚠
p.His355Gln Single submitter developmental and epileptic encephalopathy, 59 ⚠
p.His382Arg Single submitter Epileptic encephalopathy ⚠
p.His579Arg Single submitter Epileptic encephalopathy ⚠
p.His652Arg Single submitter Epileptic encephalopathy ⚠
p.His830Tyr Single submitter ⚠
p.His929Gln Single submitter ⚠
p.Ile142Thr Single submitter Epileptic encephalopathy ⚠
p.Ile186Thr Single submitter Epileptic encephalopathy ⚠
p.Ile224Thr Single submitter Epileptic encephalopathy
p.Ile327Phe Single submitter Epileptic encephalopathy
p.Ile484Val Single submitter Epileptic encephalopathy ⚠
p.Ile504Asn Single submitter ⚠
p.Ile504Val Single submitter ⚠
p.Ile512Val Single submitter Epileptic encephalopathy
p.Ile581Val Single submitter Epileptic encephalopathy ⚠
p.Ile592Phe Single submitter Epileptic encephalopathy ⚠
p.Ile655Val Single submitter Epileptic encephalopathy ⚠
p.Ile692Val Single submitter Epileptic encephalopathy ⚠
p.Ile701Met Single submitter Epileptic encephalopathy ⚠
p.Ile802Met Single submitter Epileptic encephalopathy
p.Ile826Val Single submitter Inborn genetic diseases ⚠
p.Ile837Asn Single submitter Epileptic encephalopathy ⚠
p.Ile85Met Single submitter Epileptic encephalopathy ⚠
p.Ile85Val Single submitter Epileptic encephalopathy ⚠
p.Ile879Thr Single submitter Epileptic encephalopathy ⚠
p.Ile888Leu Single submitter Inborn genetic diseases ⚠
p.Ile907Val Single submitter Epileptic encephalopathy ⚠
p.Leu215Met Single submitter Epileptic encephalopathy
p.Leu27Pro Single submitter Epileptic encephalopathy ⚠
p.Leu28_Leu29del Single submitter Epileptic encephalopathy
p.Leu28Gln Single submitter ⚠
p.Leu29_Pro30insLeuLeu Single submitter Epileptic encephalopathy
p.Leu307Arg Single submitter Epileptic encephalopathy ⚠
p.Leu31_Leu33del Single submitter
p.Leu33_Pro34insLeu Single submitter Epileptic encephalopathy
p.Leu35_Ala36insLeuLeuProLeu Single submitter Epileptic encephalopathy
p.Leu400Val Single submitter Epileptic encephalopathy ⚠
p.Leu449Val Single submitter Epileptic encephalopathy ⚠
p.Leu56Val Single submitter developmental and epileptic encephalopathy, 59 ⚠
p.Leu598Pro Single submitter ⚠
p.Leu61Phe Single submitter ⚠
p.Leu666His Single submitter Epileptic encephalopathy ⚠
p.Leu736Phe Single submitter developmental and epileptic encephalopathy, 59 ⚠
p.Leu788Val Single submitter ⚠
p.Leu805= Single submitter Epileptic encephalopathy
p.Leu854Ter Single submitter Inborn genetic diseases
p.Lys112Ile Single submitter ⚠