ARHGEF9 — 494 ClinVar variants

All ClinVar germline ARHGEF9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 208 flagged for review →

25 Pathogenic · 6 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 27 Conflicting · 27 Benign · 13 Benign/Likely benign · 165 Likely benign · 214 Uncertain significance

Full ARHGEF9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 208

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 14

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

ARHGEF9 p.Arg102Gln Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Arg111Trp Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg297Cys Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Asp491Asn Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Asp85Asn Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln56Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gly168Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met213Ile Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met354Leu Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Met395Val Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Ser148Asn Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser516Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val498Ile Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val86Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 8

Predictors lean, ClinVar uncertain 125

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

ARHGEF9 p.Ala230Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Ala494Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg232Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg32Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg341Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn403Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn483Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn514His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn94Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp243Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp376Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln308His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Glu500Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gly492Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.His271Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Leu218Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser323Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Tyr256His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala20Gly Uncertain significance Single submitter
ARHGEF9 p.Ala211Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala305Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala398Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala426Pro Uncertain significance Single submitter
ARHGEF9 p.Ala452Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala468Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg102Leu Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Arg107Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg144Ser Uncertain significance Single submitter
ARHGEF9 p.Arg232His Uncertain significance Single submitter
ARHGEF9 p.Arg294Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg32Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg341His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg341Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg345Leu Uncertain significance Single submitter
ARHGEF9 p.Arg345Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg363Trp Uncertain significance Single submitter
ARHGEF9 p.Arg372Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn207Asp Uncertain significance Single submitter
ARHGEF9 p.Asn31Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn31Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn31Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn342Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn403Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn466Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn74Lys Uncertain significance Single submitter
ARHGEF9 p.Asp145Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp172Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp210Val Uncertain significance Single submitter
ARHGEF9 p.Asp239Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp243Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp437Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp85Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Cys190Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Cys212Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Cys254Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Cys99Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln259Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln337Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln344Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln75Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln87His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln87Lys Uncertain significance Single submitter
ARHGEF9 p.Glu293Lys Uncertain significance Single submitter
ARHGEF9 p.Glu315Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Glu80Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Glu81Gly Uncertain significance Single submitter
ARHGEF9 p.Gly371Val Uncertain significance Single submitter
ARHGEF9 p.Gly441Ser Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Gly441Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gly485Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.His26Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.His90Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ile159Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ile253Thr Uncertain significance Single submitter
ARHGEF9 p.Ile291Phe Uncertain significance Single submitter
ARHGEF9 p.Ile301Phe Uncertain significance Single submitter
ARHGEF9 p.Ile362Phe Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Ile366Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ile373Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu11Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu215Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu218Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu260Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu263Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Lys370Glu Uncertain significance Single submitter
ARHGEF9 p.Lys416Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met146Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met284Leu Uncertain significance Single submitter
ARHGEF9 p.Met332Thr Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Met354Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met395Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met454Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Phe350Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Phe413Ser Uncertain significance Single submitter
ARHGEF9 p.Phe515Leu Uncertain significance Single submitter
ARHGEF9 p.Pro103Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro182Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro460Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro473Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro476Ser Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Pro481Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro520Ser Uncertain significance Single submitter
ARHGEF9 p.Pro83His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro83Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser324Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser394Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser394Asn Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Ser467Phe Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Ser470Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser474Ala Uncertain significance Single submitter
ARHGEF9 p.Ser474Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Tyr274His Uncertain significance Single submitter
ARHGEF9 p.Tyr487Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val18Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val27Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val27Phe Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Val287Ala Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Val287Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val41Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val434Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val86Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg294His Uncertain significance No assertion criteria
intellectual disability
ARHGEF9 p.Leu356Ile Uncertain significance No assertion criteria
ARHGEF9 p.Pro490Leu Uncertain significance No assertion criteria
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val381Phe Uncertain significance No assertion criteria
intellectual disability

Predictors split 69

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

ARHGEF9 p.Arg123His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg141Trp Uncertain significance Multiple submitters
microcephaly
ARHGEF9 p.Arg223His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg372His Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Asp313Glu Benign/Likely benign Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Gln151Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Glu61Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gly386Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gly89Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gly89Val Uncertain significance Multiple submitters
ARHGEF9 p.Ile319Val Uncertain significance Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Leu518Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu91Met Uncertain significance Multiple submitters
Inborn genetic diseases
ARHGEF9 p.Met167Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ser148Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala261Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala426Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ala468Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg102Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg107Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg141Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg144Gly Uncertain significance Single submitter
ARHGEF9 p.Arg223Cys Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg32Leu Uncertain significance Single submitter
ARHGEF9 p.Arg363Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg422Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg469Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg469His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Arg506His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asn342Tyr Uncertain significance Single submitter
ARHGEF9 p.Asn392Ser Uncertain significance Single submitter
ARHGEF9 p.Asn49Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp108Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp321His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp382Asn Likely benign Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp382Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Asp58His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln105Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Gln235Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Glu150Lys Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Glu193Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Glu317Lys Conflicting Single submitter
Inborn genetic diseases
ARHGEF9 p.Glu61Asp Uncertain significance Single submitter
ARHGEF9 p.Glu76Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Glu80Lys Uncertain significance Single submitter
ARHGEF9 p.Gly340Ser Uncertain significance Single submitter
ARHGEF9 p.Ile159Val Uncertain significance Single submitter
ARHGEF9 p.Ile301Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ile383Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Ile383Thr Uncertain significance Single submitter
ARHGEF9 p.Ile42Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Leu152Val Uncertain significance Single submitter
ARHGEF9 p.Leu312Ile Uncertain significance Single submitter
ARHGEF9 p.Lys130Arg Uncertain significance Single submitter
ARHGEF9 p.Lys142Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Lys432Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Met29Ile Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Met375Val Uncertain significance Single submitter
ARHGEF9 p.Phe442Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Phe499Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Phe511Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Phe521Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Pro520Ala Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Thr329Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Tyr163Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Tyr339Cys Conflicting Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val346Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 8
ARHGEF9 p.Val381Ala Uncertain significance Single submitter
Inborn genetic diseases
ARHGEF9 p.Asn179Ser Uncertain significance No assertion criteria
developmental and epileptic encephalopathy, 8

All ARHGEF9 variants

Pathogenic 25

p.Arg296Ter Multiple submitters developmental and epileptic encephalopathy, 8
p.Gln259Ter Multiple submitters developmental and epileptic encephalopathy, 8
p.Glu436fs Multiple submitters developmental and epileptic encephalopathy, 8
p.Trp423Ter Multiple submitters developmental and epileptic encephalopathy, 8
c.1321+1G>A Single submitter
c.402+1G>C Single submitter developmental and epileptic encephalopathy, 8
p.Asn292fs Single submitter Inborn genetic diseases
p.Gln139Ter Single submitter Inborn genetic diseases
p.Gln308Ter Single submitter developmental and epileptic encephalopathy, 8
p.Gln344Ter Single submitter developmental and epileptic encephalopathy, 8
p.Gln451Ter Single submitter developmental and epileptic encephalopathy, 8
p.Glu315= Single submitter developmental and epileptic encephalopathy, 8
p.Glu384Ter Single submitter developmental and epileptic encephalopathy, 8
p.Glu60Ter Single submitter developmental and epileptic encephalopathy, 8
p.Gly330fs Single submitter developmental and epileptic encephalopathy, 8
p.His271fs Single submitter developmental and epileptic encephalopathy, 8
p.Leu367fs Single submitter developmental and epileptic encephalopathy, 8
p.Ser310fs Single submitter developmental and epileptic encephalopathy, 8
p.Ser470Ter Single submitter developmental and epileptic encephalopathy, 8
p.Trp314Ter Single submitter developmental and epileptic encephalopathy, 8
p.Trp72Ter Single submitter developmental and epileptic encephalopathy, 8
p.Tyr475fs Single submitter developmental and epileptic encephalopathy, 8
p.Val380fs Single submitter developmental and epileptic encephalopathy, 8
p.Gln2Ter No assertion criteria developmental and epileptic encephalopathy, 8
p.Gly62Ala No assertion criteria developmental and epileptic encephalopathy, 8

Pathogenic/Likely pathogenic 6

c.582+1G>A Multiple submitters developmental and epileptic encephalopathy, 8
p.Arg111Gln Multiple submitters developmental and epileptic encephalopathy, 8
p.Arg297His Multiple submitters Inborn genetic diseases
p.Arg345Trp Multiple submitters Inborn genetic diseases
p.Arg372His Multiple submitters Inborn genetic diseases ⚠
p.Glu186Lys Multiple submitters Inborn genetic diseases

Likely pathogenic 17

c.1078-1G>A Single submitter
c.1078-3T>G Single submitter developmental and epileptic encephalopathy, 8
c.1322-1G>A Single submitter
c.30+1G>A Single submitter developmental and epileptic encephalopathy, 8
c.402+1G>A Single submitter developmental and epileptic encephalopathy, 8
c.945+1G>A Single submitter Neurodevelopmental delay
c.946-8_949delinsATCCTAGAC Single submitter
p.Ala112fs Single submitter developmental and epileptic encephalopathy, 8
p.Arg345Gln Single submitter
p.Cys140Tyr Single submitter developmental and epileptic encephalopathy, 8
p.Gly188Arg Single submitter developmental and epileptic encephalopathy, 8
p.Ile421fs Single submitter
p.Lys359= Single submitter developmental and epileptic encephalopathy, 8
p.Trp24Ter Single submitter
p.Trp307Ter Single submitter developmental and epileptic encephalopathy, 8
p.Tyr125Ter Single submitter developmental and epileptic encephalopathy, 8
p.Val170fs Single submitter developmental and epileptic encephalopathy, 8

Conflicting classifications of pathogenicity 27

c.816-9T>C Single submitter developmental and epileptic encephalopathy, 8
p.Ala261Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg102Gln Single submitter Inborn genetic diseases ⚠
p.Arg111Trp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg223Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg297Cys Single submitter Inborn genetic diseases ⚠
p.Arg363Gln Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp491Asn Single submitter Inborn genetic diseases ⚠
p.Asp85Asn Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln225= Single submitter Inborn genetic diseases
p.Gln56Lys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Glu117= Single submitter developmental and epileptic encephalopathy, 8
p.Glu150Lys Single submitter Inborn genetic diseases ⚠
p.Glu317Lys Single submitter Inborn genetic diseases ⚠
p.Glu60= Single submitter developmental and epileptic encephalopathy, 8
p.Gly168Asp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gly371= Single submitter Inborn genetic diseases
p.His124= Single submitter Inborn genetic diseases
p.Met213Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Met354Leu Single submitter Inborn genetic diseases ⚠
p.Met395Val Single submitter Inborn genetic diseases ⚠
p.Phe499Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser148Asn Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser516Gly Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Tyr339Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val498Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val86Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠

Benign 27

c.1322-49T>G Multiple submitters epilepsy
c.1390+224G>A Multiple submitters
c.31-160C>T Multiple submitters
c.582+107A>G Multiple submitters
c.1077+13C>G Single submitter developmental and epileptic encephalopathy, 8
c.1321+16G>T Single submitter developmental and epileptic encephalopathy, 8
c.1322-10del Single submitter developmental and epileptic encephalopathy, 8
c.1322-133_1322-132dup Single submitter
c.1322-133dup Single submitter
c.1322-190G>A Single submitter
c.1390+249_1390+250dup Single submitter
c.30+10T>C Single submitter developmental and epileptic encephalopathy, 8
c.31-16C>T Single submitter developmental and epileptic encephalopathy, 8
c.31-29709dup Single submitter
c.403-13dup Single submitter developmental and epileptic encephalopathy, 8
c.403-19G>A Single submitter developmental and epileptic encephalopathy, 8
c.583-13del Single submitter developmental and epileptic encephalopathy, 8
c.583-13dup Single submitter developmental and epileptic encephalopathy, 8
c.*148CA[15] Single submitter
c.*148CA[16] Single submitter
c.*148CA[18] Single submitter
p.Ala468Ser Single submitter developmental and epileptic encephalopathy, 8
p.Asp243= Single submitter developmental and epileptic encephalopathy, 8
p.Asp40= Single submitter developmental and epileptic encephalopathy, 8
p.His90= Single submitter developmental and epileptic encephalopathy, 8
p.Pro478Leu Single submitter developmental and epileptic encephalopathy, 8
p.Ser516= Single submitter developmental and epileptic encephalopathy, 8

Benign/Likely benign 13

c.816-12_816-11del Multiple submitters developmental and epileptic encephalopathy, 8
c.946-16C>T Multiple submitters developmental and epileptic encephalopathy, 8
c.946-4C>A Multiple submitters developmental and epileptic encephalopathy, 8
p.Ala35= Multiple submitters Inborn genetic diseases
p.Asp149= Multiple submitters developmental and epileptic encephalopathy, 8
p.Asp313Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp491Glu Multiple submitters Inborn genetic diseases
p.Gly188= Multiple submitters developmental and epileptic encephalopathy, 8
p.His194= Multiple submitters Inborn genetic diseases
p.Ile17Val Multiple submitters Inborn genetic diseases
p.Ile444Val Multiple submitters developmental and epileptic encephalopathy, 8
p.Met10Thr Multiple submitters developmental and epileptic encephalopathy, 8
p.Ser185= Multiple submitters developmental and epileptic encephalopathy, 8

Likely benign 165

c.1078-18C>T Multiple submitters developmental and epileptic encephalopathy, 8
c.1390+163C>T Multiple submitters
c.1391-4C>G Multiple submitters developmental and epileptic encephalopathy, 8
c.31-29583C>A Multiple submitters developmental and epileptic encephalopathy, 8
c.403-4A>C Multiple submitters Inborn genetic diseases
c.583-11dup Multiple submitters developmental and epileptic encephalopathy, 8
c.583-18T>G Multiple submitters developmental and epileptic encephalopathy, 8
c.815+175T>C Multiple submitters
p.Ala494= Multiple submitters Inborn genetic diseases
p.Arg144= Multiple submitters Inborn genetic diseases
p.Arg506= Multiple submitters developmental and epileptic encephalopathy, 8
p.Asn88= Multiple submitters developmental and epileptic encephalopathy, 8
p.Cys97= Multiple submitters developmental and epileptic encephalopathy, 8
p.Gln259= Multiple submitters developmental and epileptic encephalopathy, 8
p.Gln337= Multiple submitters Inborn genetic diseases
p.Gln462= Multiple submitters developmental and epileptic encephalopathy, 8
p.Gln497Arg Multiple submitters developmental and epileptic encephalopathy, 8
p.Glu122= Multiple submitters developmental and epileptic encephalopathy, 8
p.Glu193= Multiple submitters developmental and epileptic encephalopathy, 8
p.Glu78= Multiple submitters developmental and epileptic encephalopathy, 8
p.His484= Multiple submitters Inborn genetic diseases
p.Ile240= Multiple submitters developmental and epileptic encephalopathy, 8
p.Ile409Val Multiple submitters developmental and epileptic encephalopathy, 8
p.Ile493= Multiple submitters developmental and epileptic encephalopathy, 8
p.Lys295= Multiple submitters developmental and epileptic encephalopathy, 8
p.Pro478= Multiple submitters developmental and epileptic encephalopathy, 8
p.Pro510= Multiple submitters Inborn genetic diseases
p.Ser496= Multiple submitters developmental and epileptic encephalopathy, 8
p.Ser84= Multiple submitters developmental and epileptic encephalopathy, 8
p.Thr502= Multiple submitters developmental and epileptic encephalopathy, 8
c.1077+10C>T Single submitter developmental and epileptic encephalopathy, 8
c.1077+11C>A Single submitter developmental and epileptic encephalopathy, 8
c.1077+18T>C Single submitter developmental and epileptic encephalopathy, 8
c.1077+19T>G Single submitter developmental and epileptic encephalopathy, 8
c.1077+7C>G Single submitter developmental and epileptic encephalopathy, 8
c.1077+8T>C Single submitter developmental and epileptic encephalopathy, 8
c.1078-13C>T Single submitter developmental and epileptic encephalopathy, 8
c.1078-18C>A Single submitter developmental and epileptic encephalopathy, 8
c.1078-19C>T Single submitter developmental and epileptic encephalopathy, 8
c.1078-324C>A Single submitter
c.1321+18A>G Single submitter developmental and epileptic encephalopathy, 8
c.1322-10T>C Single submitter developmental and epileptic encephalopathy, 8
c.1322-120del Single submitter
c.1322-17A>T Single submitter developmental and epileptic encephalopathy, 8
c.1322-19A>G Single submitter developmental and epileptic encephalopathy, 8
c.1322-31A>G Single submitter
c.1390+11C>T Single submitter developmental and epileptic encephalopathy, 8
c.1390+13C>T Single submitter developmental and epileptic encephalopathy, 8
c.1390+18A>G Single submitter developmental and epileptic encephalopathy, 8
c.1390+262del Single submitter
c.1391-12C>T Single submitter developmental and epileptic encephalopathy, 8
c.1391-14C>A Single submitter developmental and epileptic encephalopathy, 8
c.1391-16C>T Single submitter developmental and epileptic encephalopathy, 8
c.1391-5T>C Single submitter developmental and epileptic encephalopathy, 8
c.1391-7A>G Single submitter developmental and epileptic encephalopathy, 8
c.211-13C>A Single submitter developmental and epileptic encephalopathy, 8
c.211-5C>T Single submitter developmental and epileptic encephalopathy, 8
c.30+20G>A Single submitter developmental and epileptic encephalopathy, 8
c.30+9A>C Single submitter developmental and epileptic encephalopathy, 8
c.31-10G>T Single submitter developmental and epileptic encephalopathy, 8
c.31-29459T>C Single submitter epilepsy
c.31-29577C>T Single submitter developmental and epileptic encephalopathy, 8
c.31-29579C>T Single submitter developmental and epileptic encephalopathy, 8
c.31-29596G>C Single submitter developmental and epileptic encephalopathy, 8
c.31-29639A>T Single submitter
c.31-29642del Single submitter
c.31-5C>T Single submitter developmental and epileptic encephalopathy, 8
c.31-6C>T Single submitter developmental and epileptic encephalopathy, 8
c.402+15T>C Single submitter developmental and epileptic encephalopathy, 8
c.402+20T>C Single submitter developmental and epileptic encephalopathy, 8
c.402+7A>T Single submitter developmental and epileptic encephalopathy, 8
c.402+8T>C Single submitter developmental and epileptic encephalopathy, 8
c.403-12C>G Single submitter developmental and epileptic encephalopathy, 8
c.403-16T>A Single submitter developmental and epileptic encephalopathy, 8
c.403-17T>C Single submitter developmental and epileptic encephalopathy, 8
c.582+10_582+14del Single submitter developmental and epileptic encephalopathy, 8
c.582+10T>A Single submitter developmental and epileptic encephalopathy, 8
c.582+18T>C Single submitter developmental and epileptic encephalopathy, 8
c.583-14T>C Single submitter developmental and epileptic encephalopathy, 8
c.583-17T>G Single submitter developmental and epileptic encephalopathy, 8
c.583-296del Single submitter
c.815+10C>T Single submitter developmental and epileptic encephalopathy, 8
c.815+11G>A Single submitter developmental and epileptic encephalopathy, 8
c.815+18T>C Single submitter developmental and epileptic encephalopathy, 8
c.815+302C>T Single submitter
c.815+8A>G Single submitter developmental and epileptic encephalopathy, 8
c.815+8A>T Single submitter developmental and epileptic encephalopathy, 8
c.816-10G>A Single submitter developmental and epileptic encephalopathy, 8
c.816-16T>C Single submitter developmental and epileptic encephalopathy, 8
c.816-18A>C Single submitter developmental and epileptic encephalopathy, 8
c.946-13A>C Single submitter developmental and epileptic encephalopathy, 8
c.946-17T>A Single submitter developmental and epileptic encephalopathy, 8
c.946-18A>G Single submitter developmental and epileptic encephalopathy, 8
c.946-19C>A Single submitter developmental and epileptic encephalopathy, 8
c.946-333AG[13] Single submitter
c.*146G>C Single submitter epilepsy
c.*7C>G Single submitter
p.Ala112= Single submitter developmental and epileptic encephalopathy, 8
p.Ala22= Single submitter developmental and epileptic encephalopathy, 8
p.Ala305= Single submitter developmental and epileptic encephalopathy, 8
p.Ala398= Single submitter developmental and epileptic encephalopathy, 8
p.Ala66= Single submitter developmental and epileptic encephalopathy, 8
p.Arg223= Single submitter
p.Arg296= Single submitter developmental and epileptic encephalopathy, 8
p.Arg372= Single submitter developmental and epileptic encephalopathy, 8
p.Arg431= Single submitter developmental and epileptic encephalopathy, 8
p.Arg517= Single submitter developmental and epileptic encephalopathy, 8
p.Asn31= Single submitter developmental and epileptic encephalopathy, 8
p.Asp313= Single submitter developmental and epileptic encephalopathy, 8
p.Asp318= Single submitter developmental and epileptic encephalopathy, 8
p.Asp365= Single submitter developmental and epileptic encephalopathy, 8
p.Asp374= Single submitter developmental and epileptic encephalopathy, 8
p.Asp382Asn Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp491= Single submitter developmental and epileptic encephalopathy, 8
p.Asp58= Single submitter developmental and epileptic encephalopathy, 8
p.Asp58Asn Single submitter developmental and epileptic encephalopathy, 8
p.Cys97Arg Single submitter
p.Gln308= Single submitter developmental and epileptic encephalopathy, 8
p.Gln343= Single submitter developmental and epileptic encephalopathy, 8
p.Gln486= Single submitter developmental and epileptic encephalopathy, 8
p.Glu214= Single submitter developmental and epileptic encephalopathy, 8
p.Glu419= Single submitter developmental and epileptic encephalopathy, 8
p.Glu81= Single submitter developmental and epileptic encephalopathy, 8
p.Gly244= Single submitter developmental and epileptic encephalopathy, 8
p.Gly316= Single submitter
p.Gly340= Single submitter developmental and epileptic encephalopathy, 8
p.Gly386= Single submitter developmental and epileptic encephalopathy, 8
p.Gly39= Single submitter developmental and epileptic encephalopathy, 8
p.His128= Single submitter developmental and epileptic encephalopathy, 8
p.His352= Single submitter developmental and epileptic encephalopathy, 8
p.His402= Single submitter developmental and epileptic encephalopathy, 8
p.Ile187= Single submitter
p.Ile242= Single submitter developmental and epileptic encephalopathy, 8
p.Ile253= Single submitter developmental and epileptic encephalopathy, 8
p.Ile42= Single submitter developmental and epileptic encephalopathy, 8
p.Leu137= Single submitter developmental and epileptic encephalopathy, 8
p.Leu173= Single submitter developmental and epileptic encephalopathy, 8
p.Leu192= Single submitter developmental and epileptic encephalopathy, 8
p.Leu34= Single submitter developmental and epileptic encephalopathy, 8
p.Leu401= Single submitter developmental and epileptic encephalopathy, 8
p.Leu411= Single submitter developmental and epileptic encephalopathy, 8
p.Leu417= Single submitter developmental and epileptic encephalopathy, 8
p.Lys127= Single submitter developmental and epileptic encephalopathy, 8
p.Lys138= Single submitter developmental and epileptic encephalopathy, 8
p.Lys220= Single submitter developmental and epileptic encephalopathy, 8
p.Lys415= Single submitter developmental and epileptic encephalopathy, 8
p.Phe245= Single submitter developmental and epileptic encephalopathy, 8
p.Phe499= Single submitter developmental and epileptic encephalopathy, 8
p.Pro103= Single submitter developmental and epileptic encephalopathy, 8
p.Pro249= Single submitter developmental and epileptic encephalopathy, 8
p.Pro481= Single submitter developmental and epileptic encephalopathy, 8
p.Pro490= Single submitter developmental and epileptic encephalopathy, 8
p.Pro83= Single submitter developmental and epileptic encephalopathy, 8
p.Ser324= Single submitter developmental and epileptic encephalopathy, 8
p.Ser8= Single submitter developmental and epileptic encephalopathy, 8
p.Ser95= Single submitter developmental and epileptic encephalopathy, 8
p.Thr248= Single submitter
p.Thr406= Single submitter
p.Tyr136= Single submitter developmental and epileptic encephalopathy, 8
p.Tyr177= Single submitter developmental and epileptic encephalopathy, 8
p.Tyr339= Single submitter developmental and epileptic encephalopathy, 8
p.Tyr369= Single submitter developmental and epileptic encephalopathy, 8
p.Val489Leu Single submitter developmental and epileptic encephalopathy, 8
p.Val73= Single submitter developmental and epileptic encephalopathy, 8
p.Val79= Single submitter developmental and epileptic encephalopathy, 8

Uncertain significance 214

p.Ala230Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala494Thr Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Arg123His Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Arg141Trp Multiple submitters microcephaly ⚠
p.Arg223His Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Arg232Cys Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Arg32Gly Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Arg341Cys Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Asn403Ser Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Asn483Ser Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Asn514His Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Asn94Ser Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Asp243Asn Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Asp376dup Multiple submitters developmental and epileptic encephalopathy, 8
p.Asp376Tyr Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Gln151Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln308His Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Glu500Asp Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Glu61Gln Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Gly386Asp Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Gly492Ser Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Gly89Arg Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Gly89Val Multiple submitters ⚠
p.His271Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile319Val Multiple submitters Inborn genetic diseases ⚠
p.Leu218Val Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Leu518Ser Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Leu91Met Multiple submitters Inborn genetic diseases ⚠
p.Met167Val Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Ser148Gly Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
p.Ser323Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr256His Multiple submitters developmental and epileptic encephalopathy, 8 ⚠
c.1077+5C>T Single submitter developmental and epileptic encephalopathy, 8
c.1078-11_1078-8del Single submitter developmental and epileptic encephalopathy, 8
c.1078-3T>C Single submitter developmental and epileptic encephalopathy, 8
c.1321+5G>T Single submitter developmental and epileptic encephalopathy, 8
c.1390+2T>A Single submitter Inborn genetic diseases
c.30+16C>T Single submitter developmental and epileptic encephalopathy, 8
c.30+29959G>A Single submitter ARHGEF9-related disorder
c.31-29588_31-29587del Single submitter developmental and epileptic encephalopathy, 8
c.31-29588A>G Single submitter developmental and epileptic encephalopathy, 8
c.403-3C>T Single submitter developmental and epileptic encephalopathy, 8
c.815+5G>C Single submitter developmental and epileptic encephalopathy, 8
c.815+5G>T Single submitter developmental and epileptic encephalopathy, 8
c.816-920G>T Single submitter
c.945+5G>A Single submitter developmental and epileptic encephalopathy, 8
c.946-7_949del Single submitter
c.946-9_946-8insATCCTAGA Single submitter
c.*2684A>G Single submitter developmental and epileptic encephalopathy, 8
p.Ala20Gly Single submitter ⚠
p.Ala211Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ala305Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ala398Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ala426Pro Single submitter ⚠
p.Ala426Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ala452Pro Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ala468Asp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ala468Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg102Leu Single submitter Inborn genetic diseases ⚠
p.Arg102Trp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg107Gln Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg107Trp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg141Gln Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg144Gly Single submitter ⚠
p.Arg144Ser Single submitter ⚠
p.Arg232His Single submitter ⚠
p.Arg294Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg32Gln Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg32Leu Single submitter ⚠
p.Arg341His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg341Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg345Leu Single submitter ⚠
p.Arg345Pro Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg363Trp Single submitter ⚠
p.Arg372Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg422Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg469Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg469His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg506His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg5Gly Single submitter developmental and epileptic encephalopathy, 8
p.Asn207Asp Single submitter ⚠
p.Asn31Asp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn31Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn31Thr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn342Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn342Tyr Single submitter ⚠
p.Asn392Ser Single submitter ⚠
p.Asn403Lys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn466Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn49Asp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asn74Lys Single submitter ⚠
p.Asp108Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp145Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp172Tyr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp210Val Single submitter ⚠
p.Asp239Gly Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp243Tyr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp321His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp382Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp437Gly Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp58His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Asp85Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Cys190Tyr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Cys212Phe Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Cys254Tyr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Cys99Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln105Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln235Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln259Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln337Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln344Arg Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln479Ter Single submitter developmental and epileptic encephalopathy, 8
p.Gln75Lys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln87His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gln87Lys Single submitter ⚠
p.Glu193Gly Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Glu293Lys Single submitter ⚠
p.Glu315Ala Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Glu33= Single submitter
p.Glu61Asp Single submitter ⚠
p.Glu76Gly Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Glu80Asp Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Glu80Lys Single submitter ⚠
p.Glu81Gly Single submitter ⚠
p.Gly340Ser Single submitter ⚠
p.Gly371Val Single submitter ⚠
p.Gly441Ser Single submitter Inborn genetic diseases ⚠
p.Gly441Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gly485Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Gly82= Single submitter
p.Gly9Arg Single submitter developmental and epileptic encephalopathy, 8
p.His26Tyr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.His90Gln Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ile159Thr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ile159Val Single submitter ⚠
p.Ile253Thr Single submitter ⚠
p.Ile291Phe Single submitter ⚠
p.Ile301Phe Single submitter ⚠
p.Ile301Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ile362Phe Single submitter Inborn genetic diseases ⚠
p.Ile366Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ile373Thr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ile383Met Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ile383Thr Single submitter ⚠
p.Ile42Val Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Leu11Met Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Leu152Val Single submitter ⚠
p.Leu215Phe Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Leu218Pro Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Leu246_Leu247insTer Single submitter developmental and epileptic encephalopathy, 8
p.Leu260Met Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Leu263Pro Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Leu312Ile Single submitter ⚠
p.Lys130Arg Single submitter ⚠
p.Lys142Arg Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Lys370Glu Single submitter ⚠
p.Lys416Asn Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Lys432Glu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Lys463= Single submitter developmental and epileptic encephalopathy, 8
p.Met146Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Met1Val Single submitter developmental and epileptic encephalopathy, 8
p.Met284Leu Single submitter ⚠
p.Met29Ile Single submitter Inborn genetic diseases ⚠
p.Met332Thr Single submitter Inborn genetic diseases ⚠
p.Met354Arg Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Met375Val Single submitter ⚠
p.Met395Thr Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Met454Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Phe350Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Phe413Ser Single submitter ⚠
p.Phe442Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Phe511Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Phe515Leu Single submitter ⚠
p.Phe521Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro103Gln Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro182Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro460Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro473Ser Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro476Ser Single submitter Inborn genetic diseases ⚠
p.Pro481Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro520Ala Single submitter Inborn genetic diseases ⚠
p.Pro520Ser Single submitter ⚠
p.Pro83His Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Pro83Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser324Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser394Arg Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser394Asn Single submitter Inborn genetic diseases ⚠
p.Ser467Phe Single submitter Inborn genetic diseases ⚠
p.Ser470Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser474Ala Single submitter ⚠
p.Ser474Pro Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Ser8Leu Single submitter developmental and epileptic encephalopathy, 8
p.Thr329Asn Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Trp512Ter Single submitter developmental and epileptic encephalopathy, 8
p.Tyr163Phe Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Tyr274His Single submitter ⚠
p.Tyr475Ter Single submitter
p.Tyr487Cys Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val18Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val27Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val27Phe Single submitter Inborn genetic diseases ⚠
p.Val287Ala Single submitter Inborn genetic diseases ⚠
p.Val287Gly Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val346Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val381Ala Single submitter Inborn genetic diseases ⚠
p.Val41Ile Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val434Leu Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Val86Met Single submitter developmental and epileptic encephalopathy, 8 ⚠
p.Arg294His No assertion criteria intellectual disability ⚠
p.Asn179Ser No assertion criteria developmental and epileptic encephalopathy, 8 ⚠
p.Gly6Ser No assertion criteria autism spectrum disorder
p.Leu356Ile No assertion criteria ⚠
p.Pro490Leu No assertion criteria developmental and epileptic encephalopathy, 8 ⚠
p.Val381Phe No assertion criteria intellectual disability ⚠