GNB1 — 383 ClinVar variants
All ClinVar germline GNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
29 Pathogenic · 12 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 17 Conflicting · 20 Benign · 9 Benign/Likely benign · 164 Likely benign · 115 Uncertain significance
Full GNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GNB1 p.Arg52Trp
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
-
GNB1 p.Asp163Asn
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
-
GNB1 p.Gly115Ser
Conflicting
Single submitter
intellectual disability
- GNB1 p.Gly116Asp Conflicting Single submitter
- GNB1 p.Gly116Ser Conflicting Single submitter
-
GNB1 p.Gly272Arg
Conflicting
Single submitter
myelodysplastic syndrome
-
GNB1 p.Gly282Arg
Conflicting
Single submitter
GNB1-related disorder
-
GNB1 p.Gly77Ala
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
-
GNB1 p.Lys89Glu
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
-
GNB1 p.Lys89Met
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Val315Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GNB1 p.Ala60Thr
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 42
-
GNB1 p.Arg134His
Uncertain significance
Multiple submitters
intellectual disability
-
GNB1 p.Arg150Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB1 p.Arg256Cys
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 42
-
GNB1 p.Arg49Gly
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 42
- GNB1 p.Asn268Ile Uncertain significance Multiple submitters
-
GNB1 p.Lys57Glu
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 42
-
GNB1 p.Thr165Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GNB1 p.Val200Ile Uncertain significance Multiple submitters
- GNB1 p.Ala28Thr Uncertain significance Single submitter
- GNB1 p.Ala305Glu Uncertain significance Single submitter
- GNB1 p.Ala309Ser Uncertain significance Single submitter
- GNB1 p.Ala326Asp Uncertain significance Single submitter
- GNB1 p.Arg137His Uncertain significance Single submitter
- GNB1 p.Arg150Leu Uncertain significance Single submitter
- GNB1 p.Arg256His Uncertain significance Single submitter
- GNB1 p.Arg283His Uncertain significance Single submitter
- GNB1 p.Arg314Cys Uncertain significance Single submitter
- GNB1 p.Arg46His Uncertain significance Single submitter
- GNB1 p.Arg49Thr Uncertain significance Single submitter
- GNB1 p.Asn230Ser Uncertain significance Single submitter
- GNB1 p.Asn239Ser Uncertain significance Single submitter
- GNB1 p.Asp118Val Uncertain significance Single submitter
- GNB1 p.Asp170Glu Uncertain significance Single submitter
- GNB1 p.Asp38Glu Uncertain significance Single submitter
- GNB1 p.Cys149Ser Uncertain significance Single submitter
- GNB1 p.Cys166Ser Uncertain significance Single submitter
-
GNB1 p.Cys271Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GNB1 p.Gly162Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Gly224Ser Uncertain significance Single submitter
- GNB1 p.Gly272Val Uncertain significance Single submitter
-
GNB1 p.Gly319Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Gly324Asp Uncertain significance Single submitter
- GNB1 p.Gly324Ser Uncertain significance Single submitter
- GNB1 p.His62Tyr Uncertain significance Single submitter
- GNB1 p.Ile229Met Uncertain significance Single submitter
- GNB1 p.Ile232Val Uncertain significance Single submitter
- GNB1 p.Ile37Val Uncertain significance Single submitter
- GNB1 p.Leu168Arg Uncertain significance Single submitter
- GNB1 p.Leu318Val Uncertain significance Single submitter
-
GNB1 p.Leu336His
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Lys57Met Uncertain significance Single submitter
- GNB1 p.Met101Ile Uncertain significance Single submitter
- GNB1 p.Met217Val Uncertain significance Single submitter
- GNB1 p.Phe151Leu Uncertain significance Single submitter
- GNB1 p.Phe234Leu Uncertain significance Single submitter
- GNB1 p.Pro194Arg Uncertain significance Single submitter
- GNB1 p.Pro236Ser Uncertain significance Single submitter
-
GNB1 p.Pro94Leu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Ser122Phe Uncertain significance Single submitter
- GNB1 p.Ser122Pro Uncertain significance Single submitter
- GNB1 p.Ser277Cys Uncertain significance Single submitter
- GNB1 p.Ser98Phe Uncertain significance Single submitter
- GNB1 p.Thr159Ile Uncertain significance Single submitter
- GNB1 p.Thr184Pro Uncertain significance Single submitter
- GNB1 p.Thr196Ala Uncertain significance Single submitter
- GNB1 p.Thr196Ser Uncertain significance Single submitter
- GNB1 p.Thr223Ser Uncertain significance Single submitter
-
GNB1 p.Thr29Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GNB1 p.Trp297Cys Uncertain significance Single submitter
- GNB1 p.Trp63Cys Uncertain significance Single submitter
- GNB1 p.Trp99Arg Uncertain significance Single submitter
-
GNB1 p.Tyr124Asp
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
-
GNB1 p.Asn35Asp
Uncertain significance
No assertion criteria
GNB1-related disorder
Predictors split 37
The independent predictors disagree with each other — read with care.
-
GNB1 p.Ala299Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GNB1 p.Ala92Thr
Pathogenic/Likely pathogenic
Multiple submitters
intellectual disability, autosomal dominant 42
-
GNB1 p.Arg304Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GNB1 p.Arg8Gln Uncertain significance Multiple submitters
-
GNB1 p.Glu130Lys
Pathogenic/Likely pathogenic
Multiple submitters
intellectual disability, autosomal dominant 42
-
GNB1 p.Pro94Ser
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 42
- GNB1 p.Thr179Met Uncertain significance Multiple submitters
- GNB1 p.Val71Ile Uncertain significance Multiple submitters
-
GNB1 p.Ala231Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GNB1 p.Ala257Val Uncertain significance Single submitter
- GNB1 p.Ala309Thr Uncertain significance Single submitter
-
GNB1 p.Arg129His
Uncertain significance
Single submitter
Inborn genetic diseases
- GNB1 p.Arg19Gly Uncertain significance Single submitter
-
GNB1 p.Arg52Gln
Conflicting
Single submitter
GNB1-related disorder
- GNB1 p.Asn88Asp Uncertain significance Single submitter
- GNB1 p.Asp153Glu Uncertain significance Single submitter
- GNB1 p.Asp38Gly Uncertain significance Single submitter
-
GNB1 p.Glu12Lys
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Gly131Glu Uncertain significance Single submitter
-
GNB1 p.Gly174Ser
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Gly330Ala Uncertain significance Single submitter
- GNB1 p.Ile171Met Uncertain significance Single submitter
- GNB1 p.Ile269Val Uncertain significance Single submitter
- GNB1 p.Ile33Met Uncertain significance Single submitter
-
GNB1 p.Leu198Pro
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Leu261Phe Uncertain significance Single submitter
-
GNB1 p.Leu30Phe
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Leu55Val Pathogenic Single submitter
- GNB1 p.Lys89Arg Likely pathogenic Single submitter
- GNB1 p.Met262Val Uncertain significance Single submitter
-
GNB1 p.Pro94Arg
Conflicting
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Thr184Ala Uncertain significance Single submitter
- GNB1 p.Thr47Ala Uncertain significance Single submitter
- GNB1 p.Thr47Met Uncertain significance Single submitter
-
GNB1 p.Tyr111Cys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 42
- GNB1 p.Val276Ile Uncertain significance Single submitter
- GNB1 p.Val296Ile Uncertain significance Single submitter
All GNB1 variants
Pathogenic 29
- p.Asp118Gly Multiple submitters intellectual disability, autosomal dominant 42
- p.Asp118Tyr Multiple submitters intellectual disability, autosomal dominant 42
- p.Asp76Gly Multiple submitters intellectual disability
- p.Gly77Cys Multiple submitters intellectual disability, autosomal dominant 42
- p.Ile80Asn Multiple submitters intellectual disability, autosomal dominant 42
- p.Met101Val Multiple submitters intellectual disability, autosomal dominant 42
- c.267+1dup Single submitter
- c.916+1G>T Single submitter
- p.Arg19Ter Single submitter
- p.Arg214Ter Single submitter Inborn genetic diseases
- p.Asp154fs Single submitter Inborn genetic diseases
- p.Asp76Glu Single submitter intellectual disability, autosomal dominant 42
- p.Gly116Val Single submitter
- p.Gly77Arg Single submitter intellectual disability, autosomal dominant 42
- p.Gly77Val Single submitter intellectual disability, autosomal dominant 42
- p.Leu252fs Single submitter
- p.Leu55Val Single submitter ⚠
- p.Lys337_Ile338delinsAsn Single submitter Inborn genetic diseases
- p.Lys337Gln Single submitter
- p.Ser74Leu Single submitter GNB1-related disorder
- p.Trp211fs Single submitter
- p.Trp297Ter Single submitter
- p.Trp63Ter Single submitter Inborn genetic diseases
- c.268-1G>T No assertion criteria intellectual disability, autosomal dominant 42
- c.917-1G>T No assertion criteria intellectual disability, autosomal dominant 42
- p.Arg96Leu No assertion criteria intellectual disability, autosomal dominant 42
- p.Cys114Tyr No assertion criteria intellectual disability, autosomal dominant 42
- p.Gly306fs No assertion criteria intellectual disability, autosomal dominant 42
- p.His91fs No assertion criteria intellectual disability, autosomal dominant 42
Pathogenic/Likely pathogenic 12
- p.Ala73Ser Multiple submitters intellectual disability, autosomal dominant 42
- p.Ala73Thr Multiple submitters intellectual disability, autosomal dominant 42
- p.Ala92Thr Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Asp76Asn Multiple submitters intellectual disability, autosomal dominant 42
- p.Glu130Lys Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Gly77Asp Multiple submitters intellectual disability, autosomal dominant 42
- p.Gly77Ser Multiple submitters Inborn genetic diseases
- p.Ile80Ser Multiple submitters intellectual disability, autosomal dominant 42
- p.Ile80Thr Multiple submitters GNB1-related disorder
- p.Leu95Pro Multiple submitters Hypotonia
- p.Lys78Arg Multiple submitters GNB1-related disorder
- p.Val100fs Multiple submitters intellectual disability, autosomal dominant 42
Likely pathogenic 17
- c.498-2A>G Multiple submitters intellectual disability, autosomal dominant 42
- p.Asp118His Multiple submitters intellectual disability, autosomal dominant 42
- c.700-1G>T Single submitter
- c.917-2A>G Single submitter
- p.Ala326Thr Single submitter intellectual disability, autosomal dominant 42
- p.Arg96Cys Single submitter
- p.Gln32fs Single submitter intellectual disability, autosomal dominant 42
- p.Gly282Ala Single submitter intellectual disability
- p.Lys337Thr Single submitter intellectual disability, autosomal dominant 42
- p.Lys57Thr Single submitter
- p.Lys89Arg Single submitter ⚠
- p.Met61Ile Single submitter intellectual disability, autosomal dominant 42
- p.Ser97Pro Single submitter intellectual disability, autosomal dominant 42
- p.Trp99Leu Single submitter intellectual disability, autosomal dominant 42
- p.Cys166Arg No assertion criteria intellectual disability, autosomal dominant 42
- p.Gly109Glu No assertion criteria intellectual disability, autosomal dominant 42
- p.Gly53Glu No assertion criteria intellectual disability, autosomal dominant 42
Conflicting classifications of pathogenicity 17
- c.267+7A>G Single submitter intellectual disability, autosomal dominant 42
- p.Arg52Gln Single submitter GNB1-related disorder ⚠
- p.Arg52Trp Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Asp163Asn Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Glu12Lys Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Gly115Ser Single submitter intellectual disability ⚠
- p.Gly116Asp Single submitter ⚠
- p.Gly116Ser Single submitter ⚠
- p.Gly174Ser Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Gly272Arg Single submitter myelodysplastic syndrome ⚠
- p.Gly282Arg Single submitter GNB1-related disorder ⚠
- p.Gly77Ala Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Lys89Glu Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Lys89Met Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Pro94Arg Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Tyr289= Single submitter
- p.Val315Ile Single submitter ⚠
Benign 20
- c.267+14G>A Multiple submitters
- c.267+19C>T Multiple submitters
- c.498-13G>A Multiple submitters
- c.*9+119G>T Multiple submitters
- c.203+6C>T Single submitter
- c.204-15dup Single submitter
- c.430+4C>T Single submitter
- c.497+15C>T Single submitter
- c.497+168dup Single submitter
- c.700-20G>T Single submitter
- c.97-17A>G Single submitter
- c.97-7T>C Single submitter
- p.Ala21Thr Single submitter
- p.Ala26Thr Single submitter
- p.Asn125Ser Single submitter
- p.Glu172Asp Single submitter
- p.Glu226Lys Single submitter
- p.Met217Thr Single submitter
- p.Pro194Leu Single submitter
- p.Val100= Single submitter
Benign/Likely benign 9
- c.203+7G>A Multiple submitters
- p.Arg219Gln Multiple submitters Inborn genetic diseases
- p.Asn295= Multiple submitters
- p.Asp154= Multiple submitters intellectual disability, autosomal dominant 42
- p.Asp246= Multiple submitters
- p.Leu300= Multiple submitters
- p.Thr165= Multiple submitters
- p.Thr29Ala Multiple submitters Inborn genetic diseases
- p.Val158Ile Multiple submitters Inborn genetic diseases
Likely benign 164
- c.268-11T>C Multiple submitters
- c.498-14C>T Multiple submitters
- c.916+5G>A Multiple submitters
- c.96+20C>T Multiple submitters
- p.Ala287= Multiple submitters
- p.Arg134= Multiple submitters myelodysplastic syndrome
- p.Arg314= Multiple submitters
- p.Arg96= Multiple submitters
- p.Asp163= Multiple submitters
- p.Asp20= Multiple submitters
- p.Asp247= Multiple submitters
- p.Cys114= Multiple submitters
- p.Gly319= Multiple submitters
- p.Ile157= Multiple submitters
- p.Ile37Met Multiple submitters Inborn genetic diseases
- p.Leu70= Multiple submitters
- p.Phe199= Multiple submitters
- p.Phe235= Multiple submitters
- p.Ser281= Multiple submitters
- p.Thr173= Multiple submitters
- p.Thr181= Multiple submitters
- p.Tyr59= Multiple submitters
- p.Val307= Multiple submitters
- c.203+13A>G Single submitter
- c.203+16A>G Single submitter
- c.203+18C>T Single submitter
- c.203+18dup Single submitter
- c.203+9G>C Single submitter
- c.204-12C>G Single submitter
- c.204-14G>A Single submitter
- c.204-18T>C Single submitter
- c.204-20G>T Single submitter
- c.204-6C>T Single submitter
- c.204-7C>A Single submitter
- c.268-13T>C Single submitter
- c.268-16G>T Single submitter
- c.268-7dup Single submitter
- c.430+17A>G Single submitter
- c.430+19A>C Single submitter
- c.430+3_430+6dup Single submitter
- c.430+9C>T Single submitter
- c.431-17G>A Single submitter
- c.431-9C>T Single submitter
- c.497+11G>A Single submitter
- c.497+13C>A Single submitter
- c.497+16G>A Single submitter
- c.497+7A>G Single submitter
- c.497+8C>T Single submitter
- c.498-10C>T Single submitter
- c.498-6C>T Single submitter
- c.498-7G>A Single submitter
- c.57+17G>A Single submitter
- c.58-19C>T Single submitter
- c.58-20del Single submitter
- c.58-8C>T Single submitter
- c.699+17G>A Single submitter
- c.699+19G>A Single submitter
- c.700-14C>T Single submitter
- c.700-15dup Single submitter
- c.700-16del Single submitter
- c.916+11A>G Single submitter
- c.916+11A>T Single submitter
- c.916+18C>T Single submitter
- c.916+19T>C Single submitter
- c.917-12G>C Single submitter
- c.917-14T>C Single submitter
- c.917-17C>T Single submitter
- c.917-5C>T Single submitter
- c.917-8_917-7delinsTT Single submitter
- c.917-9T>C Single submitter
- c.96+12C>G Single submitter
- c.96+16G>C Single submitter
- c.96+17T>G Single submitter
- c.96+7G>A Single submitter
- c.96+9C>T Single submitter
- c.97-10T>C Single submitter
- c.97-15G>A Single submitter
- p.Ala106= Single submitter
- p.Ala11= Single submitter
- p.Ala113= Single submitter
- p.Ala193= Single submitter
- p.Ala208= Single submitter
- p.Ala21Ser Single submitter
- p.Ala24= Single submitter
- p.Ala240= Single submitter
- p.Ala26= Single submitter
- p.Ala28= Single submitter
- p.Ala28Val Single submitter
- p.Ala299= Single submitter
- p.Ala302= Single submitter
- p.Ala328= Single submitter
- p.Ala56= Single submitter
- p.Ala60= Single submitter
- p.Arg214Gln Single submitter intellectual disability, autosomal dominant 42
- p.Arg283= Single submitter
- p.Arg304Trp Single submitter
- p.Asn110= Single submitter
- p.Asn132= Single submitter
- p.Asn88= Single submitter
- p.Asp170= Single submitter
- p.Asp228= Single submitter
- p.Asp258= Single submitter
- p.Asp290= Single submitter
- p.Asp312= Single submitter
- p.Asp322= Single submitter
- p.Cys114Trp Single submitter
- p.Cys317= Single submitter
- p.Gln13= Single submitter
- p.Gln9= Single submitter
- p.Glu12= Single submitter
- p.Gly244= Single submitter
- p.Gly272= Single submitter
- p.Gly282= Single submitter
- p.Gly310= Single submitter
- p.Gly53= Single submitter
- p.His142= Single submitter
- p.His225= Single submitter
- p.His266= Single submitter
- p.His91= Single submitter
- p.Ile171= Single submitter
- p.Ile229= Single submitter
- p.Ile269= Single submitter
- p.Ile37= Single submitter
- p.Ile81= Single submitter
- p.Leu146= Single submitter
- p.Leu192= Single submitter
- p.Leu198= Single submitter
- p.Leu252= Single submitter
- p.Leu284= Single submitter
- p.Leu4= Single submitter
- p.Leu51= Single submitter
- p.Leu95= Single submitter
- p.Phe222= Single submitter
- p.Phe222Val Single submitter
- p.Phe278= Single submitter
- p.Pro107Leu Single submitter
- p.Pro194= Single submitter
- p.Ser122= Single submitter
- p.Ser201= Single submitter
- p.Ser265= Single submitter
- p.Ser275= Single submitter
- p.Ser277= Single submitter
- p.Ser74= Single submitter
- p.Ser97= Single submitter
- p.Ser98= Single submitter
- p.Ter341= Single submitter
- p.Thr164= Single submitter
- p.Thr178= Single submitter
- p.Thr221= Single submitter
- p.Thr274= Single submitter
- p.Thr47= Single submitter
- p.Thr50= Single submitter
- p.Thr86= Single submitter
- p.Thr87= Single submitter
- p.Tyr264= Single submitter
- p.Tyr85= Single submitter
- p.Val112= Single submitter
- p.Val133= Single submitter
- p.Val158= Single submitter
- p.Val200= Single submitter
- p.Val276= Single submitter
- p.Val296= Single submitter
- p.Val71= Single submitter
- c.-8A>G No assertion criteria GNB1-related disorder
Uncertain significance 115
- c.916+3A>G Multiple submitters
- p.Ala299Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala60Thr Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Arg134His Multiple submitters intellectual disability ⚠
- p.Arg150Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg256Cys Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Arg304Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg49Gly Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Arg8Gln Multiple submitters ⚠
- p.Asn268Ile Multiple submitters ⚠
- p.Lys57Glu Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Pro94Ser Multiple submitters intellectual disability, autosomal dominant 42 ⚠
- p.Thr165Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr179Met Multiple submitters ⚠
- p.Val200Ile Multiple submitters ⚠
- p.Val71Ile Multiple submitters ⚠
- c.268-7T>A Single submitter
- c.431-4668T>C Single submitter intellectual disability, autosomal dominant 42
- c.57+11dup Single submitter
- c.700-3C>T Single submitter
- c.916+4C>T Single submitter
- c.917-2_918dup Single submitter
- c.917-3C>T Single submitter
- c.97-2A>G Single submitter GNB1-related disorder
- c.-16G>A Single submitter
- c.*1316G>C Single submitter intellectual disability, autosomal dominant 42
- p.Ala231Thr Single submitter Inborn genetic diseases ⚠
- p.Ala257Val Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala305Glu Single submitter ⚠
- p.Ala309Ser Single submitter ⚠
- p.Ala309Thr Single submitter ⚠
- p.Ala326Asp Single submitter ⚠
- p.Ala326Gly Single submitter
- p.Arg129His Single submitter Inborn genetic diseases ⚠
- p.Arg137His Single submitter ⚠
- p.Arg150Leu Single submitter ⚠
- p.Arg19Gly Single submitter ⚠
- p.Arg251Lys Single submitter Inborn genetic diseases
- p.Arg256His Single submitter ⚠
- p.Arg283His Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg49Thr Single submitter ⚠
- p.Asn230Ser Single submitter ⚠
- p.Asn239Ser Single submitter ⚠
- p.Asn268del Single submitter
- p.Asn88Asp Single submitter ⚠
- p.Asp118Val Single submitter ⚠
- p.Asp153Glu Single submitter ⚠
- p.Asp153Gly Single submitter
- p.Asp170Glu Single submitter ⚠
- p.Asp38Glu Single submitter ⚠
- p.Asp38Gly Single submitter ⚠
- p.Cys149Ser Single submitter ⚠
- p.Cys166Ser Single submitter ⚠
- p.Cys233= Single submitter
- p.Cys25Ser Single submitter
- p.Cys271Phe Single submitter Inborn genetic diseases ⚠
- p.Gly131Glu Single submitter ⚠
- p.Gly162Arg Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Gly224Ser Single submitter ⚠
- p.Gly272Val Single submitter ⚠
- p.Gly319Arg Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Gly324Asp Single submitter ⚠
- p.Gly324Ser Single submitter ⚠
- p.Gly330Ala Single submitter ⚠
- p.Gly330fs Single submitter
- p.His62Tyr Single submitter ⚠
- p.Ile171Met Single submitter ⚠
- p.Ile229Met Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile269Val Single submitter ⚠
- p.Ile33Met Single submitter ⚠
- p.Ile37Val Single submitter ⚠
- p.Leu168Arg Single submitter ⚠
- p.Leu198Pro Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Leu261Phe Single submitter ⚠
- p.Leu30Phe Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Leu318Val Single submitter ⚠
- p.Leu336His Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Lys57Met Single submitter ⚠
- p.Met101Ile Single submitter ⚠
- p.Met217Val Single submitter ⚠
- p.Met262Val Single submitter ⚠
- p.Phe151Leu Single submitter ⚠
- p.Phe234Leu Single submitter ⚠
- p.Phe278del Single submitter intellectual disability, autosomal dominant 42
- p.Pro194Arg Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Pro94Leu Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Ser122Phe Single submitter ⚠
- p.Ser122Pro Single submitter ⚠
- p.Ser277Cys Single submitter ⚠
- p.Ser98Phe Single submitter ⚠
- p.Ter341Lys Single submitter
- p.Ter341Ser Single submitter
- p.Thr159Ile Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr184Pro Single submitter ⚠
- p.Thr196Ala Single submitter ⚠
- p.Thr196Ser Single submitter ⚠
- p.Thr223Ser Single submitter ⚠
- p.Thr29Ile Single submitter Inborn genetic diseases ⚠
- p.Thr47Ala Single submitter ⚠
- p.Thr47Met Single submitter ⚠
- p.Trp297Cys Single submitter ⚠
- p.Trp63Cys Single submitter ⚠
- p.Trp99Arg Single submitter ⚠
- p.Tyr111Cys Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Tyr124Asp Single submitter intellectual disability, autosomal dominant 42 ⚠
- p.Tyr289Ter Single submitter
- p.Val276Ile Single submitter ⚠
- p.Val296Ile Single submitter ⚠
- p.Asn35Asp No assertion criteria GNB1-related disorder ⚠