ADGRG1 — 1035 ClinVar variants

All ClinVar germline ADGRG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →

55 Pathogenic · 25 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 56 Conflicting · 81 Benign · 13 Benign/Likely benign · 486 Likely benign · 276 Uncertain significance

Full ADGRG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 257

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 vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ADGRG1 p.Arg38Gln Pathogenic/Likely pathogenic Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Arg559Trp Pathogenic/Likely pathogenic Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Glu256Asp Likely pathogenic Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gly106Ser Likely pathogenic Single submitter
ADGRG1 p.His89Tyr Pathogenic Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro70Leu Pathogenic No assertion criteria
bilateral frontoparietal polymicrogyria

Predictors agree, ClinVar conflicts 18

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

ADGRG1 p.Ala424Thr Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Arg108His Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Arg254Gln Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Arg280Gln Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Arg660Gln Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Glu229Lys Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gly245Ser Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Leu481Pro Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Leu497Pro Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Lys49Glu Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Met582Leu Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser163Arg Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser5Leu Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Ser683Leu Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Thr138Pro Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Thr9Met Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Val413Ile Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Val633Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 130

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ADGRG1 p.Ala625Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Ala64Val Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ala673Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg232Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg686Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg686His Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg96Gln Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gln188His Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Gly488Ser Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gly549Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.His596Arg Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.His602Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.His97Arg Uncertain significance Multiple submitters
ADGRG1 p.Met176Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Met580Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Pro165Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Pro538Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Ser472Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Ser679Leu Uncertain significance Multiple submitters
ADGRG1 p.Val398Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Val550Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 c.1287-7C>T Uncertain significance Single submitter
ADGRG1 p.Ala137Gly Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala169Ser Uncertain significance Single submitter
ADGRG1 p.Ala169Val Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala205Ser Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala205Thr Uncertain significance Single submitter
ADGRG1 p.Ala205Val Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala23Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala297Thr Uncertain significance Single submitter
ADGRG1 p.Ala364Val Uncertain significance Single submitter
ADGRG1 p.Ala397Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala471Val Uncertain significance Single submitter
ADGRG1 p.Ala69Ser Uncertain significance Single submitter
ADGRG1 p.Ala69Val Uncertain significance Single submitter
ADGRG1 p.Arg254Pro Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Arg370Lys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Arg430Lys Uncertain significance Single submitter
ADGRG1 p.Arg433Gln Uncertain significance Single submitter
ADGRG1 p.Arg559Gln Uncertain significance Single submitter
ADGRG1 p.Arg656Gln Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Asp114Gly Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Cys377Tyr Uncertain significance Single submitter
ADGRG1 p.Cys411Tyr Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gln123His Uncertain significance Single submitter
ADGRG1 p.Gln131His Uncertain significance Single submitter
ADGRG1 p.Gln207Arg Uncertain significance Single submitter
ADGRG1 p.Gln247Arg Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Gln336Arg Uncertain significance Single submitter
ADGRG1 p.Gln598Arg Uncertain significance Single submitter
ADGRG1 p.Glu261Lys Uncertain significance Single submitter
ADGRG1 p.Glu310Lys Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gly282Glu Uncertain significance Single submitter
ADGRG1 p.Gly517Cys Uncertain significance Single submitter
ADGRG1 p.Gly549Asp Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gly661Asp Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Gly86Asp Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.His102Tyr Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.His162Arg Uncertain significance Single submitter
ADGRG1 p.His544Arg Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Leu103Pro Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Leu183Val Uncertain significance Single submitter
ADGRG1 p.Leu212Pro Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Leu246Arg Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Leu405Pro Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Leu426Val Uncertain significance Single submitter
ADGRG1 p.Leu657Met Uncertain significance Single submitter
ADGRG1 p.Lys340Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Lys49Ile Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Met176Arg Uncertain significance Single submitter
ADGRG1 p.Met176Val Uncertain significance Single submitter
ADGRG1 p.Met263Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Met263Val Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Met487Ile Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Met555Val Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Phe34Ser Uncertain significance Single submitter
ADGRG1 p.Phe478Leu Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Phe502Ser Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro133Ser Uncertain significance Single submitter
ADGRG1 p.Pro164Thr Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro165His Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Pro200Ser Uncertain significance Single submitter
ADGRG1 p.Pro521Ser Uncertain significance Single submitter
ADGRG1 p.Pro665Ser Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser160Phe Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser201Leu Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser211Asn Uncertain significance Single submitter
ADGRG1 p.Ser281Asn Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser305Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser363Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser457Arg Uncertain significance Single submitter
ADGRG1 p.Ser479Phe Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser561Ala Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser672Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Thr383Asn Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Thr383Ile Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Thr452Ala Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Thr452Met Uncertain significance Single submitter
ADGRG1 p.Thr605Ser Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Thr628Ile Uncertain significance Single submitter
ADGRG1 p.Thr66Ile Uncertain significance Single submitter
ADGRG1 p.Trp518Cys Uncertain significance Single submitter
ADGRG1 p.Trp557Cys Uncertain significance Single submitter
ADGRG1 p.Trp600Arg Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Trp617Cys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Tyr384Cys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Tyr402Ser Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val140Ile Uncertain significance Single submitter
ADGRG1 p.Val226Met Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val237Leu Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Val395Met Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Val398Met Uncertain significance Single submitter
ADGRG1 p.Val413Phe Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val499Leu Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val525Gly Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ala172Asp Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ala23Asp Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ala98Thr Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Glu229Val Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Glu63Gln Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Gly132Ala Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.His602Gln Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Leu17Pro Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Met389Ile Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Met555Ile Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro521Ala Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro553Ser Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser414Cys Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Thr10Ala Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Thr141Ile Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria

Predictors split 103

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

ADGRG1 p.Ala235Thr Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Arg108Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg33His Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg592Gln Uncertain significance Multiple submitters
polymicrogyria, bilateral perisylvian, autosomal recessive
ADGRG1 p.Arg592Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg594Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Arg656Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Asp53His Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Gln125Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Gln300His Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Leu619Phe Uncertain significance Multiple submitters
ADGRG1 p.Leu634Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Met655Ile Uncertain significance Multiple submitters
ADGRG1 p.Ser214Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Ser253Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Thr167Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Thr236Met Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Thr526Met Uncertain significance Multiple submitters
ADGRG1 p.Val350Ile Uncertain significance Multiple submitters
bilateral frontoparietal polymicrogyria
ADGRG1 p.Val533Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADGRG1 p.Ala202Asp Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala415Val Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala584Asp Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ala73Glu Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Arg254Trp Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Arg280Trp Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Arg33Cys Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Arg38Gly Uncertain significance Single submitter
ADGRG1 p.Arg38Trp Conflicting Single submitter
polymicrogyria, bilateral perisylvian, autosomal recessive
ADGRG1 p.Arg470Gln Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Arg470Gly Uncertain significance Single submitter
ADGRG1 p.Arg470Pro Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Arg496Gln Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Arg592Leu Uncertain significance Single submitter
ADGRG1 p.Arg594His Conflicting Single submitter
ADGRG1 p.Arg660Trp Uncertain significance Single submitter
ADGRG1 p.Arg79Gly Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Asn442Ser Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Asn493Lys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Asn493Ser Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Asp434Gly Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Asp451Gly Likely pathogenic Single submitter
Inborn genetic diseases
ADGRG1 p.Gln208Pro Uncertain significance Single submitter
ADGRG1 p.Gln644Arg Uncertain significance Single submitter
ADGRG1 p.Glu458Lys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Glu62Lys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Gly106Asp Likely pathogenic Single submitter
ADGRG1 p.Gly517Ala Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ile315Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ile474Thr Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ile648Val Uncertain significance Single submitter
ADGRG1 p.Leu14Pro Uncertain significance Single submitter
ADGRG1 p.Leu179Phe Uncertain significance Single submitter
ADGRG1 p.Leu46Phe Uncertain significance Single submitter
ADGRG1 p.Leu484Val Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Leu511His Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Leu657Pro Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Lys302Asn Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Phe221Leu Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Phe523Tyr Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Phe576Leu Uncertain significance Single submitter
ADGRG1 p.Phe90Leu Uncertain significance Single submitter
ADGRG1 p.Phe90Val Uncertain significance Single submitter
ADGRG1 p.Pro134Leu Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro339Leu Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro72Leu Likely benign Single submitter
ADGRG1 p.Pro72Ser Conflicting Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser153Asn Uncertain significance Single submitter
ADGRG1 p.Ser218Pro Uncertain significance Single submitter
ADGRG1 p.Ser266Leu Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser623Pro Uncertain significance Single submitter
ADGRG1 p.Ser664Phe Likely benign Single submitter
ADGRG1 p.Ser668Asn Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser685Arg Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Ser80Phe Uncertain significance Single submitter
ADGRG1 p.Thr277Met Likely benign Single submitter
ADGRG1 p.Thr326Met Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Thr421Ala Uncertain significance Single submitter
ADGRG1 p.Thr504Ser Uncertain significance Single submitter
bilateral frontoparietal polymicrogyria
ADGRG1 p.Tyr505Cys Uncertain significance Single submitter
ADGRG1 p.Tyr509Cys Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val329Met Conflicting Single submitter
Inborn genetic diseases
ADGRG1 p.Val369Ile Likely benign Single submitter
Inborn genetic diseases
ADGRG1 p.Val409Met Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val543Met Uncertain significance Single submitter
Inborn genetic diseases
ADGRG1 p.Val575Met Uncertain significance Single submitter
ADGRG1 p.Val603Met Uncertain significance Single submitter
polymicrogyria, bilateral perisylvian, autosomal recessive
ADGRG1 p.Ala64Gly Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ala69Asp Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Arg79Pro Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Asp109Tyr Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Asp175Tyr Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Glu466Gly Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.His335Tyr Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Leu406Phe Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Leu631Arg Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Phe333Leu Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Phe649Leu Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro134Gln Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Pro328Ala Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser356Asn Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Ser78Phe Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria
ADGRG1 p.Val350Phe Uncertain significance No assertion criteria
bilateral frontoparietal polymicrogyria

All ADGRG1 variants

Pathogenic 55

p.Arg271Ter Multiple submitters polymicrogyria, bilateral perisylvian, autosomal recessive
p.Arg470Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Arg496Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Arg79Ter Multiple submitters polymicrogyria, bilateral perisylvian, autosomal recessive
p.Gln247fs Multiple submitters polymicrogyria, bilateral perisylvian, autosomal recessive
p.Gln630Ter Multiple submitters
p.Leu406fs Multiple submitters bilateral frontoparietal polymicrogyria
p.Tyr505Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Val316fs Multiple submitters bilateral frontoparietal polymicrogyria
c.900+1del Single submitter
p.Arg271fs Single submitter
p.Arg33fs Single submitter
p.Asp224fs Single submitter
p.Asp292fs Single submitter
p.Cys35Ter Single submitter
p.Cys366_Glu367delinsTer Single submitter
p.Gln194Ter Single submitter bilateral frontoparietal polymicrogyria
p.Gln241Ter Single submitter bilateral frontoparietal polymicrogyria
p.Gln247Ter Single submitter
p.Gln300fs Single submitter
p.Gln300Ter Single submitter bilateral frontoparietal polymicrogyria
p.Gln336Ter Single submitter
p.Gln598Ter Single submitter
p.Glu258Ter Single submitter
p.Glu261Ter Single submitter bilateral frontoparietal polymicrogyria
p.His602fs Single submitter
p.His89Tyr Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Leu135fs Single submitter
p.Leu13fs Single submitter
p.Leu212_Glu213insTer Single submitter
p.Leu289fs Single submitter
p.Leu313Ter Single submitter
p.Leu443fs Single submitter
p.Leu634fs Single submitter
p.Leu65fs Single submitter
p.Leu87fs Single submitter
p.Pro507fs Single submitter
p.Pro70fs Single submitter
p.Ser153fs Single submitter
p.Ser206fs Single submitter
p.Ser5Ter Single submitter
p.Trp144fs Single submitter
p.Trp144Ter Single submitter
p.Trp518Ter Single submitter
p.Tyr105Ter Single submitter
p.Tyr492fs Single submitter
p.Tyr495Ter Single submitter
p.Tyr552Ter Single submitter
p.Tyr93Ter Single submitter
p.Val20fs Single submitter
c.619_620+2del No assertion criteria Abnormal cerebral morphology
c.621-1G>C No assertion criteria bilateral frontoparietal polymicrogyria
p.Ala529fs No assertion criteria Generalized weakness of limb muscles
p.Pro70Leu No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Tyr88Cys No assertion criteria bilateral frontoparietal polymicrogyria

Pathogenic/Likely pathogenic 25

c.1933+1G>T Multiple submitters bilateral frontoparietal polymicrogyria
c.1933+2del Multiple submitters bilateral frontoparietal polymicrogyria
c.620+1G>A Multiple submitters bilateral frontoparietal polymicrogyria
c.-36+10587_-36+10601del Multiple submitters bilateral frontoparietal polymicrogyria
p.Ala461_Leu462insTer Multiple submitters bilateral frontoparietal polymicrogyria
p.Arg287fs Multiple submitters bilateral frontoparietal polymicrogyria
p.Arg38Gln Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Arg559Trp Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Arg96Ter Multiple submitters Inborn genetic diseases
p.Cys177Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Cys377Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Cys427Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Cys91Ser Multiple submitters bilateral frontoparietal polymicrogyria
p.Gln123Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Gln188Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Gln338Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Gln4Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Glu178fs Multiple submitters bilateral frontoparietal polymicrogyria
p.Leu136Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Phe71fs Multiple submitters bilateral frontoparietal polymicrogyria
p.Pro72fs Multiple submitters bilateral frontoparietal polymicrogyria
p.Trp143Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Trp486Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Trp651Ter Multiple submitters bilateral frontoparietal polymicrogyria
p.Val387fs Multiple submitters bilateral frontoparietal polymicrogyria

Likely pathogenic 43

c.1168-8_1174del Multiple submitters bilateral frontoparietal polymicrogyria
c.488-2A>G Multiple submitters polymicrogyria, bilateral perisylvian, autosomal recessive
p.Glu256Asp Multiple submitters bilateral frontoparietal polymicrogyria ⚠
c.1017+2T>A Single submitter
c.1063+1G>A Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
c.1064-1G>A Single submitter bilateral frontoparietal polymicrogyria
c.1064-2A>G Single submitter
c.1167+3G>C Single submitter bilateral frontoparietal polymicrogyria
c.1286+2T>A Single submitter
c.1933+1G>A Single submitter bilateral frontoparietal polymicrogyria
c.1933+2T>C Single submitter bilateral frontoparietal polymicrogyria
c.621-1G>T Single submitter
c.65-2A>C Single submitter bilateral frontoparietal polymicrogyria
c.769-1G>A Single submitter
c.900+1G>A Single submitter
c.900+1G>T Single submitter
p.Ala169fs Single submitter bilateral frontoparietal polymicrogyria
p.Ala196fs Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
p.Ala417fs Single submitter bilateral frontoparietal polymicrogyria
p.Asn442fs Single submitter bilateral frontoparietal polymicrogyria
p.Asp451Gly Single submitter Inborn genetic diseases ⚠
p.Cys346Ser Single submitter bilateral frontoparietal polymicrogyria
p.Cys418Ter Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
p.Gln255fs Single submitter bilateral frontoparietal polymicrogyria
p.Gln334Ter Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
p.Gln338fs Single submitter bilateral frontoparietal polymicrogyria
p.Glu283fs Single submitter
p.Glu327Ter Single submitter bilateral frontoparietal polymicrogyria
p.Glu490Lys Single submitter bilateral frontoparietal polymicrogyria
p.Gly106Asp Single submitter ⚠
p.Gly106Ser Single submitter ⚠
p.His28fs Single submitter bilateral frontoparietal polymicrogyria
p.His381Tyr Single submitter bilateral frontoparietal polymicrogyria
p.Ile551fs Single submitter bilateral frontoparietal polymicrogyria
p.Phe622del Single submitter bilateral frontoparietal polymicrogyria
p.Ser281fs Single submitter
p.Ser623del Single submitter bilateral frontoparietal polymicrogyria
p.Trp349Ser Single submitter bilateral frontoparietal polymicrogyria
p.Trp617Ser Single submitter bilateral frontoparietal polymicrogyria
p.Trp617Ter Single submitter
p.Tyr88Ter Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
p.Val447fs Single submitter bilateral frontoparietal polymicrogyria
p.Ser642Phe No assertion criteria bilateral frontoparietal polymicrogyria

Conflicting classifications of pathogenicity 56

c.1017+11G>A Single submitter bilateral frontoparietal polymicrogyria
c.1063+8T>C Single submitter bilateral frontoparietal polymicrogyria
c.1287-6G>A Single submitter bilateral frontoparietal polymicrogyria
c.620+11C>T Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
c.64+15G>T Single submitter bilateral frontoparietal polymicrogyria
c.-11G>A Single submitter bilateral frontoparietal polymicrogyria
c.*549C>T Single submitter bilateral frontoparietal polymicrogyria
p.Ala397= Single submitter
p.Ala423= Single submitter bilateral frontoparietal polymicrogyria
p.Ala424Thr Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Ala73Glu Single submitter Inborn genetic diseases ⚠
p.Arg108His Single submitter Inborn genetic diseases ⚠
p.Arg254Gln Single submitter Inborn genetic diseases ⚠
p.Arg254Trp Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Arg280Gln Single submitter Inborn genetic diseases ⚠
p.Arg280Trp Single submitter Inborn genetic diseases ⚠
p.Arg29= Single submitter bilateral frontoparietal polymicrogyria
p.Arg33Cys Single submitter Inborn genetic diseases ⚠
p.Arg38Trp Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive ⚠
p.Arg594His Single submitter ⚠
p.Arg660Gln Single submitter Inborn genetic diseases ⚠
p.Asp396= Single submitter bilateral frontoparietal polymicrogyria
p.Gln131Ter Single submitter bilateral frontoparietal polymicrogyria
p.Gln255= Single submitter bilateral frontoparietal polymicrogyria
p.Glu229Lys Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Gly245Ser Single submitter Inborn genetic diseases ⚠
p.Gly661= Single submitter bilateral frontoparietal polymicrogyria
p.Gly680= Single submitter
p.Leu313= Single submitter bilateral frontoparietal polymicrogyria
p.Leu416= Single submitter bilateral frontoparietal polymicrogyria
p.Leu481Pro Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Leu497Pro Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Lys49Glu Single submitter Inborn genetic diseases ⚠
p.Lys667= Single submitter bilateral frontoparietal polymicrogyria
p.Met582Leu Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Phe81= Single submitter
p.Pro134Leu Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Pro204= Single submitter bilateral frontoparietal polymicrogyria
p.Pro521= Single submitter bilateral frontoparietal polymicrogyria
p.Pro72Ser Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Ser163Arg Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Ser281_Gly282delinsArgArg Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive
p.Ser457= Single submitter bilateral frontoparietal polymicrogyria
p.Ser5Leu Single submitter Inborn genetic diseases ⚠
p.Ser61= Single submitter bilateral frontoparietal polymicrogyria
p.Ser683Leu Single submitter Inborn genetic diseases ⚠
p.Thr138Pro Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Thr236= Single submitter bilateral frontoparietal polymicrogyria
p.Thr326Met Single submitter Inborn genetic diseases ⚠
p.Thr452= Single submitter
p.Thr526= Single submitter
p.Thr9= Single submitter
p.Thr9Met Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Val329Met Single submitter Inborn genetic diseases ⚠
p.Val413Ile Single submitter Inborn genetic diseases ⚠
p.Val633Ile Single submitter Inborn genetic diseases ⚠

Benign 81

c.1064-107A>G Multiple submitters
c.1167+182C>T Multiple submitters
c.1167+77C>A Multiple submitters bilateral frontoparietal polymicrogyria
c.1168-20C>A Multiple submitters bilateral frontoparietal polymicrogyria
c.1286+113G>C Multiple submitters
c.1286+6G>A Multiple submitters bilateral frontoparietal polymicrogyria
c.1287-60G>A Multiple submitters bilateral frontoparietal polymicrogyria
c.1555+15G>C Multiple submitters bilateral frontoparietal polymicrogyria
c.1665-41C>T Multiple submitters bilateral frontoparietal polymicrogyria
c.1665-5C>T Multiple submitters bilateral frontoparietal polymicrogyria
c.1665-99G>A Multiple submitters
c.1682+116G>A Multiple submitters
c.1933+10A>G Multiple submitters bilateral frontoparietal polymicrogyria
c.488-100G>A Multiple submitters
c.620+151A>G Multiple submitters
c.620+67T>C Multiple submitters
c.620+67T>G Multiple submitters
c.621-184A>C Multiple submitters bilateral frontoparietal polymicrogyria
c.-153-2381C>T Multiple submitters
c.-35-10705A>G Multiple submitters
c.-35-268C>G Multiple submitters
c.-35-8727C>T Multiple submitters
c.-36+102G>A Multiple submitters
c.-36+113A>T Multiple submitters
c.-36+147T>C Multiple submitters
c.-36+53A>T Multiple submitters
c.-36+77T>A Multiple submitters
c.*1007G>A Multiple submitters bilateral frontoparietal polymicrogyria
c.*1220C>A Multiple submitters bilateral frontoparietal polymicrogyria
c.*1437A>G Multiple submitters bilateral frontoparietal polymicrogyria
c.*19C>A Multiple submitters bilateral frontoparietal polymicrogyria
c.*301C>T Multiple submitters bilateral frontoparietal polymicrogyria
c.*38T>G Multiple submitters bilateral frontoparietal polymicrogyria
c.*74C>A Multiple submitters bilateral frontoparietal polymicrogyria
c.*832T>C Multiple submitters bilateral frontoparietal polymicrogyria
c.*98C>T Multiple submitters bilateral frontoparietal polymicrogyria
p.Ala168= Multiple submitters bilateral frontoparietal polymicrogyria
p.Ala446= Multiple submitters bilateral frontoparietal polymicrogyria
p.Arg79Gln Multiple submitters
p.Gln306His Multiple submitters bilateral frontoparietal polymicrogyria
p.Ser44= Multiple submitters bilateral frontoparietal polymicrogyria
p.Thr332= Multiple submitters bilateral frontoparietal polymicrogyria
c.1017+11dup Single submitter
c.1287-251T>G Single submitter
c.1287-252C>T Single submitter
c.1556-95A>G Single submitter
c.1664+293C>T Single submitter
c.1933+15C>T Single submitter
c.1933+268C>A Single submitter
c.1933+287A>G Single submitter
c.620+66_620+67insC Single submitter
c.621-5G>A Single submitter bilateral frontoparietal polymicrogyria
c.768+279C>A Single submitter
c.768+282C>A Single submitter
c.768+287_768+288del Single submitter
c.768+288C>G Single submitter
c.768+288del Single submitter
c.768+289G>T Single submitter
c.768+300_768+301dup Single submitter
c.768+301dup Single submitter
c.769-283C>T Single submitter
c.769-80GT[7] Single submitter
c.769-80GT[9] Single submitter
c.-35-10403G>A Single submitter
c.-35-10423G>C Single submitter
c.-35-8412A>G Single submitter
c.-35-8646A>C Single submitter
c.-36+119_-36+120del Single submitter
c.-36+137_-36+140del Single submitter
c.-36+145_-36+146del Single submitter
c.-36+163_-36+198del Single submitter
c.-36+183_-36+186del Single submitter
c.-36+219C>A Single submitter
c.-36+91_-36+96del Single submitter
c.*1069G>A Single submitter bilateral frontoparietal polymicrogyria
c.*1365A>G Single submitter bilateral frontoparietal polymicrogyria
c.*791C>T Single submitter bilateral frontoparietal polymicrogyria
c.*840A>T Single submitter bilateral frontoparietal polymicrogyria
c.*910T>C Single submitter bilateral frontoparietal polymicrogyria
c.*918C>T Single submitter bilateral frontoparietal polymicrogyria
c.*928G>A Single submitter bilateral frontoparietal polymicrogyria

Benign/Likely benign 13

c.1017+8G>A Multiple submitters bilateral frontoparietal polymicrogyria
c.1287-28G>C Multiple submitters bilateral frontoparietal polymicrogyria
c.1952-19G>A Multiple submitters
c.*108G>A Multiple submitters bilateral frontoparietal polymicrogyria
c.*154G>A Multiple submitters bilateral frontoparietal polymicrogyria
p.Gly22= Multiple submitters congenital myopathy
p.Gly282Arg Multiple submitters bilateral frontoparietal polymicrogyria
p.Gly549= Multiple submitters bilateral frontoparietal polymicrogyria
p.Gly614= Multiple submitters
p.Met487Thr Multiple submitters bilateral frontoparietal polymicrogyria
p.Ser214Leu Multiple submitters bilateral frontoparietal polymicrogyria
p.Ser281Arg Multiple submitters bilateral frontoparietal polymicrogyria
p.Val412= Multiple submitters bilateral frontoparietal polymicrogyria

Likely benign 486

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

c.1018-41G>A Multiple submitters
c.1018-56A>G Multiple submitters
c.1063+85C>T Multiple submitters
c.1286+79G>A Multiple submitters
c.1664+67G>A Multiple submitters
c.1665-4G>C Multiple submitters Inborn genetic diseases
c.1934-4G>A Multiple submitters
c.621-20C>T Multiple submitters
c.64+17G>A Multiple submitters
c.64+41G>A Multiple submitters
c.-118C>G Multiple submitters
c.-35-277A>C Multiple submitters
c.*304C>A Multiple submitters bilateral frontoparietal polymicrogyria
p.Asn234= Multiple submitters
p.Asp83= Multiple submitters
p.Gly99= Multiple submitters
p.His24= Multiple submitters
p.Ile149= Multiple submitters
p.Leu606Val Multiple submitters Inborn genetic diseases
p.Lys400= Multiple submitters bilateral frontoparietal polymicrogyria
p.Ser117= Multiple submitters
p.Thr326= Multiple submitters
p.Val237= Multiple submitters bilateral frontoparietal polymicrogyria
c.1017+10G>T Single submitter
c.1017+11G>C Single submitter
c.1017+20C>G Single submitter
c.1017+7G>A Single submitter
c.1017+7G>C Single submitter
c.1017+8G>C Single submitter
c.1017+9G>A Single submitter
c.1018-10G>A Single submitter
c.1018-19T>C Single submitter
c.1018-4A>G Single submitter
c.1018-8C>G Single submitter
c.1018-8C>T Single submitter
c.1063+14G>A Single submitter
c.1063+18T>G Single submitter
c.1063+19C>T Single submitter
c.1063+7A>G Single submitter
c.1063+9G>A Single submitter
c.1064-11C>T Single submitter
c.1064-15C>T Single submitter
c.1064-16G>A Single submitter
c.1064-18G>A Single submitter
c.1064-18G>C Single submitter
c.1064-19C>G Single submitter
c.1064-19C>T Single submitter
c.1064-5C>T Single submitter
c.1064-6C>T Single submitter
c.1167+10C>T Single submitter
c.1167+15T>C Single submitter
c.1167+16C>T Single submitter
c.1167+18C>T Single submitter
c.1167+20C>A Single submitter
c.1167+7G>T Single submitter
c.1167+9C>A Single submitter
c.1168-11C>T Single submitter
c.1168-14T>G Single submitter
c.1168-15G>C Single submitter
c.1168-17del Single submitter
c.1168-18C>G Single submitter
c.1168-20C>G Single submitter
c.1168-5G>A Single submitter
c.1168-5G>T Single submitter
c.1168-7G>C Single submitter
c.1168-8G>C Single submitter
c.1286+12_1286+22del Single submitter
c.1286+13A>G Single submitter
c.1286+17G>A Single submitter
c.1286+249TTA[3] Single submitter
c.1287-22C>T Single submitter
c.1287-29T>G Single submitter
c.1287-33A>G Single submitter
c.1287-34C>T Single submitter
c.1287-35C>T Single submitter
c.1287-36C>A Single submitter
c.1287-36C>T Single submitter
c.1287-38T>A Single submitter
c.1555+13G>T Single submitter
c.1555+14C>T Single submitter
c.1555+15G>A Single submitter
c.1555+15G>T Single submitter
c.1555+20G>A Single submitter
c.1555+215A>G Single submitter
c.1555+218A>G Single submitter
c.1555+280C>G Single submitter
c.1555+7G>C Single submitter
c.1555+7G>T Single submitter
c.1555+9T>C Single submitter
c.1556-14A>G Single submitter
c.1556-16G>A Single submitter
c.1556-20A>T Single submitter
c.1556-5C>T Single submitter
c.1556-5dup Single submitter bilateral frontoparietal polymicrogyria
c.1556-9C>T Single submitter
c.1664+18A>G Single submitter
c.1665-10T>C Single submitter
c.1665-12C>A Single submitter
c.1665-13C>A Single submitter
c.1665-13C>T Single submitter
c.1665-20C>A Single submitter
c.1665-20C>T Single submitter
c.1665-4G>A Single submitter
c.1933+11G>A Single submitter
c.1933+13C>T Single submitter
c.1933+14C>G Single submitter
c.1933+16G>A Single submitter
c.1933+18C>A Single submitter
c.1933+19C>G Single submitter
c.1933+19C>T Single submitter
c.1933+20C>G Single submitter
c.1933+20C>T Single submitter
c.1933+241G>T Single submitter
c.1933+9A>C Single submitter
c.1933+9A>G Single submitter
c.1934-128C>T Single submitter
c.1934-12C>T Single submitter
c.1934-20C>G Single submitter
c.1934-20C>T Single submitter
c.1934-4G>T Single submitter
c.1934-5C>T Single submitter
c.1934-8G>A Single submitter
c.487+18C>T Single submitter
c.487+19G>A Single submitter
c.487+8A>G Single submitter
c.488-10C>A Single submitter
c.488-11C>A Single submitter
c.488-11C>T Single submitter
c.488-17G>A Single submitter
c.488-4C>T Single submitter
c.488-5C>T Single submitter
c.488-7C>A Single submitter
c.488-7C>G Single submitter
c.488-8del Single submitter
c.488-9C>T Single submitter
c.620+10G>C Single submitter
c.620+12A>G Single submitter
c.620+20C>T Single submitter
c.621-11C>T Single submitter
c.621-127CTCTGC[3] Single submitter
c.621-12C>T Single submitter
c.621-15del Single submitter
c.621-17T>A Single submitter
c.621-17T>C Single submitter
c.621-18C>T Single submitter
c.621-19G>A Single submitter
c.621-4C>T Single submitter
c.621-5G>T Single submitter
c.621-8C>T Single submitter
c.621-9C>G Single submitter
c.64+10C>A Single submitter
c.64+11C>T Single submitter
c.64+16G>A Single submitter
c.64+20C>T Single submitter
c.64+9T>C Single submitter
c.65-14C>T Single submitter
c.65-15C>T Single submitter
c.65-18C>T Single submitter
c.65-230del Single submitter
c.65-249G>A Single submitter
c.65-250C>T Single submitter
c.768+108G>T Single submitter
c.768+10A>G Single submitter
c.768+12G>A Single submitter
c.768+16G>A Single submitter
c.768+19C>A Single submitter
c.768+20A>C Single submitter
c.768+20A>G Single submitter
c.768+276A>C Single submitter
c.768+280C>A Single submitter
c.768+46G>A Single submitter
c.768+8G>A Single submitter
c.768+9C>A Single submitter
c.769-10A>G Single submitter
c.769-11G>A Single submitter
c.769-12G>A Single submitter
c.769-152A>T Single submitter
c.769-17T>G Single submitter
c.769-19C>A Single submitter
c.769-19C>T Single submitter
c.769-20C>A Single submitter
c.769-56G>A Single submitter
c.769-80GT[10] Single submitter
c.769-8C>G Single submitter
c.769-97C>T Single submitter
c.900+16C>T Single submitter
c.900+17C>G Single submitter
c.900+8G>A Single submitter
c.900+8G>C Single submitter
c.900+8G>T Single submitter
c.901-10A>G Single submitter
c.901-10del Single submitter
c.901-11C>A Single submitter
c.901-11C>T Single submitter
c.901-20C>T Single submitter
c.901-5T>C Single submitter
c.901-6A>G Single submitter
c.901-7T>C Single submitter
c.901-9T>C Single submitter
c.-154+8A>T Single submitter
c.-155A>G Single submitter
c.-227C>A Single submitter bilateral frontoparietal polymicrogyria
c.-35-182C>T Single submitter
c.-35-8529C>A Single submitter
c.-35-8550T>C Single submitter
c.-35-8595C>T Single submitter bilateral frontoparietal polymicrogyria
c.-36+10576G>A Single submitter
c.-36+10587C>T Single submitter
c.-36+10592del Single submitter
c.-36+10600G>A Single submitter
c.-36+123T>A Single submitter
c.-36+151A>T Single submitter
c.*1058C>T Single submitter bilateral frontoparietal polymicrogyria
c.*189G>T Single submitter bilateral frontoparietal polymicrogyria
c.*46G>A Single submitter bilateral frontoparietal polymicrogyria
c.*48C>T Single submitter
p.Ala116= Single submitter
p.Ala154= Single submitter bilateral frontoparietal polymicrogyria
p.Ala155Ser Single submitter
p.Ala196= Single submitter
p.Ala23= Single submitter
p.Ala235= Single submitter
p.Ala244= Single submitter
p.Ala297= Single submitter
p.Ala364= Single submitter
p.Ala415= Single submitter
p.Ala424= Single submitter
p.Ala461= Single submitter
p.Ala584= Single submitter
p.Ala618= Single submitter
p.Ala69= Single submitter
p.Ala73= Single submitter
p.Ala74= Single submitter
p.Arg181= Single submitter
p.Arg199= Single submitter
p.Arg232= Single submitter
p.Arg26= Single submitter
p.Arg280= Single submitter bilateral frontoparietal polymicrogyria
p.Arg370= Single submitter
p.Arg371= Single submitter
p.Arg38= Single submitter
p.Arg429= Single submitter
p.Arg433= Single submitter
p.Arg559= Single submitter
p.Arg592= Single submitter
p.Arg594= Single submitter
p.Arg656= Single submitter
p.Arg660= Single submitter bilateral frontoparietal polymicrogyria
p.Arg686= Single submitter
p.Arg79= Single submitter
p.Arg85= Single submitter
p.Arg96= Single submitter
p.Asn319= Single submitter
p.Asn380= Single submitter
p.Asn669= Single submitter bilateral frontoparietal polymicrogyria
p.Asn95= Single submitter
p.Asp114= Single submitter
p.Asp224= Single submitter
p.Asp248= Single submitter
p.Asp292= Single submitter
p.Asp301= Single submitter
p.Asp352= Single submitter
p.Asp53= Single submitter
p.Asp532= Single submitter
p.Asp560= Single submitter
p.Cys177= Single submitter
p.Cys346= Single submitter
p.Cys35= Single submitter
p.Gln210= Single submitter
p.Gln247= Single submitter
p.Gln334= Single submitter bilateral frontoparietal polymicrogyria
p.Gln338= Single submitter
p.Gln37= Single submitter bilateral frontoparietal polymicrogyria
p.Gln374= Single submitter
p.Gln8= Single submitter
p.Glu178= Single submitter
p.Glu367= Single submitter
p.Glu394= Single submitter
p.Glu548= Single submitter
p.Glu63= Single submitter
p.Gly132= Single submitter
p.Gly359= Single submitter
p.Gly365= Single submitter
p.Gly464= Single submitter
p.Gly488= Single submitter
p.Gly508= Single submitter
p.Gly537= Single submitter
p.Gly570= Single submitter
p.Gly662= Single submitter
p.Gly86= Single submitter
p.His170= Single submitter
p.His360= Single submitter
p.His360Arg Single submitter Inborn genetic diseases
p.His381= Single submitter bilateral frontoparietal polymicrogyria
p.His477= Single submitter
p.His75= Single submitter
p.His97= Single submitter
p.Ile233= Single submitter
p.Ile251= Single submitter
p.Ile474= Single submitter

Uncertain significance 276

c.768+4A>C Multiple submitters
c.-35-8590T>C Multiple submitters bilateral frontoparietal polymicrogyria
c.*1336T>C Multiple submitters bilateral frontoparietal polymicrogyria
p.Ala235Thr Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Ala625Val Multiple submitters Inborn genetic diseases ⚠
p.Ala64Val Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Ala673Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg108Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg232Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg33His Multiple submitters Inborn genetic diseases ⚠
p.Arg592Gln Multiple submitters polymicrogyria, bilateral perisylvian, autosomal recessive ⚠
p.Arg592Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg594Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg656Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg686Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg686His Multiple submitters Inborn genetic diseases ⚠
p.Arg96Gln Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Asp53His Multiple submitters Inborn genetic diseases ⚠
p.Gln125Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln188His Multiple submitters Inborn genetic diseases ⚠
p.Gln300His Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Gly488Ser Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Gly549Val Multiple submitters Inborn genetic diseases ⚠
p.His596Arg Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.His602Arg Multiple submitters Inborn genetic diseases ⚠
p.His97Arg Multiple submitters ⚠
p.Leu619Phe Multiple submitters ⚠
p.Leu634Arg Multiple submitters Inborn genetic diseases ⚠
p.Met176Ile Multiple submitters Inborn genetic diseases ⚠
p.Met580Val Multiple submitters Inborn genetic diseases ⚠
p.Met655Ile Multiple submitters ⚠
p.Pro165Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro538Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser214Trp Multiple submitters Inborn genetic diseases ⚠
p.Ser253Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser472Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser679Leu Multiple submitters ⚠
p.Thr167Met Multiple submitters Inborn genetic diseases ⚠
p.Thr236Met Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Thr526Met Multiple submitters ⚠
p.Val350Ile Multiple submitters bilateral frontoparietal polymicrogyria ⚠
p.Val398Ala Multiple submitters Inborn genetic diseases ⚠
p.Val533Met Multiple submitters Inborn genetic diseases ⚠
p.Val550Ile Multiple submitters Inborn genetic diseases ⚠
c.1017+35C>T Single submitter
c.1017+5G>A Single submitter
c.1018-3C>G Single submitter
c.1063+6T>A Single submitter
c.1063+9G>C Single submitter bilateral frontoparietal polymicrogyria
c.1167+6G>A Single submitter
c.1287-6G>T Single submitter
c.1287-7C>T Single submitter ⚠
c.1555+2dup Single submitter Inborn genetic diseases
c.1665-3C>T Single submitter
c.487+3A>G Single submitter
c.488-3C>T Single submitter Inborn genetic diseases
c.64+5del Single submitter
c.64+5G>A Single submitter bilateral frontoparietal polymicrogyria
c.64+5G>T Single submitter bilateral frontoparietal polymicrogyria
c.768+4del Single submitter
c.-154+9C>T Single submitter bilateral frontoparietal polymicrogyria
c.-197G>A Single submitter bilateral frontoparietal polymicrogyria
c.-213G>A Single submitter bilateral frontoparietal polymicrogyria
c.-35-8657C>T Single submitter bilateral frontoparietal polymicrogyria
c.*1046A>G Single submitter bilateral frontoparietal polymicrogyria
c.*105T>C Single submitter bilateral frontoparietal polymicrogyria
c.*1105G>A Single submitter bilateral frontoparietal polymicrogyria
c.*1129G>A Single submitter bilateral frontoparietal polymicrogyria
c.*1156G>A Single submitter bilateral frontoparietal polymicrogyria
c.*1284G>T Single submitter bilateral frontoparietal polymicrogyria
c.*1372T>C Single submitter bilateral frontoparietal polymicrogyria
c.*139G>A Single submitter bilateral frontoparietal polymicrogyria
c.*196C>T Single submitter bilateral frontoparietal polymicrogyria
c.*221C>T Single submitter bilateral frontoparietal polymicrogyria
c.*250G>T Single submitter bilateral frontoparietal polymicrogyria
c.*332G>A Single submitter bilateral frontoparietal polymicrogyria
c.*388G>A Single submitter bilateral frontoparietal polymicrogyria
c.*414G>T Single submitter bilateral frontoparietal polymicrogyria
c.*420C>T Single submitter bilateral frontoparietal polymicrogyria
c.*551G>A Single submitter bilateral frontoparietal polymicrogyria
c.*648C>A Single submitter bilateral frontoparietal polymicrogyria
c.*68C>T Single submitter bilateral frontoparietal polymicrogyria
c.*69G>A Single submitter bilateral frontoparietal polymicrogyria
c.*768T>G Single submitter bilateral frontoparietal polymicrogyria
c.*819G>C Single submitter bilateral frontoparietal polymicrogyria
c.*877C>T Single submitter bilateral frontoparietal polymicrogyria
c.*888C>T Single submitter bilateral frontoparietal polymicrogyria
c.*943C>T Single submitter bilateral frontoparietal polymicrogyria
p.Ala137Gly Single submitter Inborn genetic diseases ⚠
p.Ala169Ser Single submitter ⚠
p.Ala169Val Single submitter Inborn genetic diseases ⚠
p.Ala202Asp Single submitter Inborn genetic diseases ⚠
p.Ala205Ser Single submitter Inborn genetic diseases ⚠
p.Ala205Thr Single submitter ⚠
p.Ala205Val Single submitter Inborn genetic diseases ⚠
p.Ala23Thr Single submitter Inborn genetic diseases ⚠
p.Ala297Thr Single submitter ⚠
p.Ala364Val Single submitter ⚠
p.Ala397Thr Single submitter Inborn genetic diseases ⚠
p.Ala415Val Single submitter Inborn genetic diseases ⚠
p.Ala471Val Single submitter ⚠
p.Ala584Asp Single submitter Inborn genetic diseases ⚠
p.Ala69Ser Single submitter ⚠
p.Ala69Val Single submitter ⚠
p.Arg254Pro Single submitter Inborn genetic diseases ⚠
p.Arg370Lys Single submitter Inborn genetic diseases ⚠
p.Arg38Gly Single submitter ⚠
p.Arg430Lys Single submitter ⚠
p.Arg433Gln Single submitter ⚠
p.Arg470Gln Single submitter Inborn genetic diseases ⚠
p.Arg470Gly Single submitter ⚠
p.Arg470Pro Single submitter Inborn genetic diseases ⚠
p.Arg496Gln Single submitter Inborn genetic diseases ⚠
p.Arg559Gln Single submitter ⚠
p.Arg592Leu Single submitter ⚠
p.Arg656Gln Single submitter Inborn genetic diseases ⚠
p.Arg660Trp Single submitter ⚠
p.Arg79Gly Single submitter Inborn genetic diseases ⚠
p.Arg85_Leu87del Single submitter
p.Asn442Ser Single submitter Inborn genetic diseases ⚠
p.Asn493Lys Single submitter Inborn genetic diseases ⚠
p.Asn493Ser Single submitter Inborn genetic diseases ⚠
p.Asp114Gly Single submitter Inborn genetic diseases ⚠
p.Asp434Gly Single submitter Inborn genetic diseases ⚠
p.Cys377Tyr Single submitter ⚠
p.Cys411Tyr Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Gln123His Single submitter ⚠
p.Gln131His Single submitter ⚠
p.Gln207Arg Single submitter ⚠
p.Gln208Pro Single submitter ⚠
p.Gln247Arg Single submitter Inborn genetic diseases ⚠
p.Gln336Arg Single submitter ⚠
p.Gln598Arg Single submitter ⚠
p.Gln644Arg Single submitter ⚠
p.Glu256= Single submitter
p.Glu261Lys Single submitter ⚠
p.Glu310Lys Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Glu458Lys Single submitter Inborn genetic diseases ⚠
p.Glu62Lys Single submitter Inborn genetic diseases ⚠
p.Gly282Glu Single submitter ⚠
p.Gly517Ala Single submitter Inborn genetic diseases ⚠
p.Gly517Cys Single submitter ⚠
p.Gly549Asp Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Gly661Asp Single submitter Inborn genetic diseases ⚠
p.Gly86Asp Single submitter Inborn genetic diseases ⚠
p.His102Tyr Single submitter bilateral frontoparietal polymicrogyria ⚠
p.His162Arg Single submitter ⚠
p.His544Arg Single submitter Inborn genetic diseases ⚠
p.Ile315Thr Single submitter Inborn genetic diseases ⚠
p.Ile474Thr Single submitter Inborn genetic diseases ⚠
p.Ile648Val Single submitter ⚠
p.Leu103Pro Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Leu14Pro Single submitter ⚠
p.Leu179Phe Single submitter ⚠
p.Leu183Val Single submitter ⚠
p.Leu212Pro Single submitter Inborn genetic diseases ⚠
p.Leu246Arg Single submitter Inborn genetic diseases ⚠
p.Leu405Pro Single submitter Inborn genetic diseases ⚠
p.Leu426Val Single submitter ⚠
p.Leu46Phe Single submitter ⚠
p.Leu484Val Single submitter Inborn genetic diseases ⚠
p.Leu511His Single submitter Inborn genetic diseases ⚠
p.Leu657Met Single submitter ⚠
p.Leu657Pro Single submitter Inborn genetic diseases ⚠
p.Lys302Asn Single submitter Inborn genetic diseases ⚠
p.Lys340Thr Single submitter Inborn genetic diseases ⚠
p.Lys49Ile Single submitter Inborn genetic diseases ⚠
p.Met176Arg Single submitter ⚠
p.Met176Val Single submitter ⚠
p.Met263Thr Single submitter Inborn genetic diseases ⚠
p.Met263Val Single submitter Inborn genetic diseases ⚠
p.Met487Ile Single submitter Inborn genetic diseases ⚠
p.Met555Val Single submitter Inborn genetic diseases ⚠
p.Phe221Leu Single submitter Inborn genetic diseases ⚠
p.Phe34Ser Single submitter ⚠
p.Phe478Leu Single submitter Inborn genetic diseases ⚠
p.Phe502Ser Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Phe523Tyr Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Phe576Leu Single submitter ⚠
p.Phe90Leu Single submitter ⚠
p.Phe90Val Single submitter ⚠
p.Pro133Ser Single submitter ⚠
p.Pro164Thr Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Pro165His Single submitter Inborn genetic diseases ⚠
p.Pro200Ser Single submitter ⚠
p.Pro339Leu Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Pro521Ser Single submitter ⚠
p.Pro665Ser Single submitter Inborn genetic diseases ⚠
p.Ser118fs Single submitter bilateral frontoparietal polymicrogyria
p.Ser153Asn Single submitter ⚠
p.Ser160Phe Single submitter Inborn genetic diseases ⚠
p.Ser201Leu Single submitter Inborn genetic diseases ⚠
p.Ser211Asn Single submitter ⚠
p.Ser218Pro Single submitter ⚠
p.Ser266Leu Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Ser281_Gly282delinsArgTrp Single submitter
p.Ser281Asn Single submitter Inborn genetic diseases ⚠
p.Ser305Thr Single submitter Inborn genetic diseases ⚠
p.Ser363Thr Single submitter Inborn genetic diseases ⚠
p.Ser457Arg Single submitter ⚠
p.Ser479Phe Single submitter Inborn genetic diseases ⚠
p.Ser561Ala Single submitter Inborn genetic diseases ⚠
p.Ser623Pro Single submitter ⚠
p.Ser668Asn Single submitter Inborn genetic diseases ⚠
p.Ser672Thr Single submitter Inborn genetic diseases ⚠
p.Ser685Arg Single submitter Inborn genetic diseases ⚠
p.Ser80Phe Single submitter ⚠
p.Thr383Asn Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Thr383Ile Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Thr421Ala Single submitter ⚠
p.Thr452Ala Single submitter Inborn genetic diseases ⚠
p.Thr452Met Single submitter ⚠
p.Thr504= Single submitter
p.Thr504Ser Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Thr605Ser Single submitter Inborn genetic diseases ⚠
p.Thr628Ile Single submitter ⚠
p.Thr66Ile Single submitter ⚠
p.Trp518Cys Single submitter ⚠
p.Trp557Cys Single submitter ⚠
p.Trp600Arg Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Trp617Cys Single submitter Inborn genetic diseases ⚠
p.Trp653Ter Single submitter bilateral frontoparietal polymicrogyria
p.Tyr384Cys Single submitter Inborn genetic diseases ⚠
p.Tyr402Ser Single submitter Inborn genetic diseases ⚠
p.Tyr505Cys Single submitter ⚠
p.Tyr509Cys Single submitter Inborn genetic diseases ⚠
p.Tyr652_Trp653del Single submitter
p.Val140Ile Single submitter ⚠
p.Val226Met Single submitter Inborn genetic diseases ⚠
p.Val237Leu Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Val395Met Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Val398Met Single submitter ⚠
p.Val409Met Single submitter Inborn genetic diseases ⚠
p.Val413Phe Single submitter Inborn genetic diseases ⚠
p.Val499Leu Single submitter Inborn genetic diseases ⚠
p.Val525Gly Single submitter bilateral frontoparietal polymicrogyria ⚠
p.Val543Met Single submitter Inborn genetic diseases ⚠
p.Val575fs Single submitter bilateral frontoparietal polymicrogyria
p.Val575Met Single submitter ⚠
p.Val603Met Single submitter polymicrogyria, bilateral perisylvian, autosomal recessive ⚠
c.488-8T>G No assertion criteria bilateral frontoparietal polymicrogyria
c.65-6C>T No assertion criteria bilateral frontoparietal polymicrogyria
c.-36+10571C>G No assertion criteria bilateral frontoparietal polymicrogyria
p.Ala172Asp No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ala23Asp No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ala64Gly No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ala69Asp No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ala98Thr No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Arg79Pro No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Asp109Tyr No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Asp175Tyr No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Glu229Val No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Glu466Gly No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Glu490= No assertion criteria bilateral frontoparietal polymicrogyria
p.Glu63Gln No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Gly132Ala No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.His335Tyr No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.His602Gln No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Leu17Pro No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Leu406Phe No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Leu631Arg No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Met389Ile No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Met555Ile No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Phe333Leu No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Phe649Leu No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Pro134Gln No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Pro328Ala No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Pro521Ala No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Pro553Ser No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ser356Asn No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ser414Cys No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Ser78Phe No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Thr10Ala No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Thr141Ile No assertion criteria bilateral frontoparietal polymicrogyria ⚠
p.Val347= No assertion criteria bilateral frontoparietal polymicrogyria
p.Val350Phe No assertion criteria bilateral frontoparietal polymicrogyria ⚠