NR2F1 — 484 ClinVar variants
All ClinVar germline NR2F1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
54 Pathogenic · 10 Pathogenic/Likely pathogenic · 72 Likely pathogenic · 26 Conflicting · 6 Benign · 9 Benign/Likely benign · 140 Likely benign · 167 Uncertain significance
Full NR2F1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
NR2F1 p.Pro166Leu
Likely pathogenic
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NR2F1 p.Arg366His
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
-
NR2F1 p.Asn24Lys
Conflicting
Single submitter
Inborn genetic diseases
-
NR2F1 p.Asn263Ser
Conflicting
Single submitter
Inborn genetic diseases
-
NR2F1 p.Cys86Phe
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Cys89Arg Conflicting Single submitter
-
NR2F1 p.Cys89Tyr
Conflicting
Single submitter
epilepsy
-
NR2F1 p.Glu104Lys
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
-
NR2F1 p.Glu342Lys
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Gly169Ser Conflicting Single submitter
-
NR2F1 p.Gly99Val
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.His50Gln Conflicting Single submitter
-
NR2F1 p.Ile341Val
Conflicting
Single submitter
Inborn genetic diseases
- NR2F1 p.Leu222Pro Conflicting Single submitter
-
NR2F1 p.Ser268Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
NR2F1 p.Ser7Asn
Conflicting
Single submitter
Inborn genetic diseases
-
NR2F1 p.Tyr120Cys
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
NR2F1 p.Tyr355Ter
Conflicting
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
Predictors lean, ClinVar uncertain 115
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NR2F1 p.Ala27Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Ala338Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Ala37Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Arg225Pro
Uncertain significance
Multiple submitters
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Arg300His Uncertain significance Multiple submitters
-
NR2F1 p.Asp69His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Cys183Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Glu307Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NR2F1 p.Glu39Asp Uncertain significance Multiple submitters
- NR2F1 p.Gly34Val Uncertain significance Multiple submitters
-
NR2F1 p.Gly71Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Leu173Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Met287Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NR2F1 p.Pro178Leu Uncertain significance Multiple submitters
- NR2F1 p.Ser229Arg Uncertain significance Multiple submitters
-
NR2F1 p.Ser46Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NR2F1 p.Ser6Asn Uncertain significance Multiple submitters
- NR2F1 p.Thr121Ala Uncertain significance Multiple submitters
-
NR2F1 p.Val314Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NR2F1 p.Ala16Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NR2F1 p.Ala223Pro
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Ala264Gly Uncertain significance Single submitter
- NR2F1 p.Ala26Ser Uncertain significance Single submitter
- NR2F1 p.Ala26Thr Uncertain significance Single submitter
- NR2F1 p.Ala29Thr Uncertain significance Single submitter
- NR2F1 p.Ala29Val Uncertain significance Single submitter
-
NR2F1 p.Ala338Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- NR2F1 p.Ala351Thr Uncertain significance Single submitter
- NR2F1 p.Ala44Gly Uncertain significance Single submitter
- NR2F1 p.Ala44Val Uncertain significance Single submitter
-
NR2F1 p.Ala60Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Ala62Pro Uncertain significance Single submitter
- NR2F1 p.Ala62Thr Uncertain significance Single submitter
-
NR2F1 p.Arg115Leu
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
-
NR2F1 p.Arg225His
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Arg300Cys Uncertain significance Single submitter
-
NR2F1 p.Arg31Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Arg357Ser Uncertain significance Single submitter
- NR2F1 p.Arg366Ser Uncertain significance Single submitter
- NR2F1 p.Arg373Gln Uncertain significance Single submitter
- NR2F1 p.Arg392Cys Uncertain significance Single submitter
- NR2F1 p.Asn125Lys Uncertain significance Single submitter
- NR2F1 p.Asn180Ser Uncertain significance Single submitter
- NR2F1 p.Asn24Ser Uncertain significance Single submitter
- NR2F1 p.Asn414Ser Uncertain significance Single submitter
- NR2F1 p.Asp131Asn Uncertain significance Single submitter
-
NR2F1 p.Asp14Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Cys146Phe Uncertain significance Single submitter
- NR2F1 p.Gln12Arg Uncertain significance Single submitter
- NR2F1 p.Gln132Arg Uncertain significance Single submitter
- NR2F1 p.Gln137Pro Uncertain significance Single submitter
- NR2F1 p.Gln157Glu Uncertain significance Single submitter
- NR2F1 p.Gln157His Uncertain significance Single submitter
- NR2F1 p.Gln53His Uncertain significance Single submitter
- NR2F1 p.Glu154Lys Uncertain significance Single submitter
- NR2F1 p.Glu196Lys Uncertain significance Single submitter
- NR2F1 p.Glu342Gln Uncertain significance Single submitter
- NR2F1 p.Glu354Lys Uncertain significance Single submitter
- NR2F1 p.Glu39Ala Uncertain significance Single submitter
- NR2F1 p.Glu39Lys Uncertain significance Single submitter
- NR2F1 p.Glu85Asp Uncertain significance Single submitter
- NR2F1 p.Gly105Asp Uncertain significance Single submitter
- NR2F1 p.Gly150Ser Uncertain significance Single submitter
-
NR2F1 p.Gly187Arg
Uncertain significance
Single submitter
NR2F1-related disorder
- NR2F1 p.Gly21Arg Uncertain significance Single submitter
- NR2F1 p.Gly281Arg Uncertain significance Single submitter
- NR2F1 p.Gly35Ala Uncertain significance Single submitter
- NR2F1 p.Gly36Ser Uncertain significance Single submitter
- NR2F1 p.Gly38Ser Uncertain significance Single submitter
- NR2F1 p.Gly45Ala Uncertain significance Single submitter
- NR2F1 p.Gly65Ser Uncertain significance Single submitter
- NR2F1 p.Gly73Asp Uncertain significance Single submitter
-
NR2F1 p.Gly76Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Gly76Ser Uncertain significance Single submitter
- NR2F1 p.Gly78Ala Uncertain significance Single submitter
- NR2F1 p.His298Asn Uncertain significance Single submitter
- NR2F1 p.Ile301Val Uncertain significance Single submitter
- NR2F1 p.Ile325Thr Uncertain significance Single submitter
- NR2F1 p.Ile325Val Uncertain significance Single submitter
- NR2F1 p.Leu226Arg Uncertain significance Single submitter
-
NR2F1 p.Leu226Pro
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Leu227Phe Uncertain significance Single submitter
- NR2F1 p.Leu252Gln Uncertain significance Single submitter
- NR2F1 p.Leu262Pro Uncertain significance Single submitter
-
NR2F1 p.Leu262Val
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Leu277Pro Uncertain significance Single submitter
- NR2F1 p.Leu282Val Uncertain significance Single submitter
- NR2F1 p.Leu402Arg Uncertain significance Single submitter
- NR2F1 p.Lys70Asn Uncertain significance Single submitter
- NR2F1 p.Met269Ile Uncertain significance Single submitter
-
NR2F1 p.Met296Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Met296Val Uncertain significance Single submitter
- NR2F1 p.Phe239Leu Uncertain significance Single submitter
- NR2F1 p.Phe260Val Uncertain significance Single submitter
- NR2F1 p.Phe390Leu Uncertain significance Single submitter
- NR2F1 p.Pro11Leu Uncertain significance Single submitter
- NR2F1 p.Pro20His Uncertain significance Single submitter
- NR2F1 p.Pro20Leu Uncertain significance Single submitter
- NR2F1 p.Pro20Ser Uncertain significance Single submitter
- NR2F1 p.Pro25Ala Uncertain significance Single submitter
- NR2F1 p.Pro25Arg Uncertain significance Single submitter
- NR2F1 p.Pro286Ala Uncertain significance Single submitter
- NR2F1 p.Pro398Ala Uncertain significance Single submitter
- NR2F1 p.Pro58Thr Uncertain significance Single submitter
-
NR2F1 p.Pro74Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Pro74Ser Uncertain significance Single submitter
-
NR2F1 p.Ser250Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Ser330Ala Uncertain significance Single submitter
-
NR2F1 p.Ser412Thr
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Thr255Ser Uncertain significance Single submitter
- NR2F1 p.Thr379Ser Uncertain significance Single submitter
-
NR2F1 p.Val114Ala
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
-
NR2F1 p.Val306Met
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Val314Ile Uncertain significance Single submitter
-
NR2F1 p.Ala172Pro
Uncertain significance
No assertion criteria
NR2F1-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
- NR2F1 p.Thr66Met Uncertain significance Multiple submitters
-
NR2F1 p.Val384Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NR2F1 p.Val391Ile Uncertain significance Multiple submitters
-
NR2F1 p.Ala2Val
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Ala311Thr Uncertain significance Single submitter
- NR2F1 p.Arg404Cys Uncertain significance Single submitter
- NR2F1 p.Asn117Lys Uncertain significance Single submitter
- NR2F1 p.Asp177Gly Uncertain significance Single submitter
-
NR2F1 p.Cys333Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Gly38Cys Likely benign Single submitter
-
NR2F1 p.Ile189Leu
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Ile237Met Benign Single submitter
- NR2F1 p.Leu192Val Uncertain significance Single submitter
- NR2F1 p.Leu402Val Uncertain significance Single submitter
- NR2F1 p.Met214Ile Uncertain significance Single submitter
- NR2F1 p.Pro210Ser Uncertain significance Single submitter
- NR2F1 p.Pro241Arg Uncertain significance Single submitter
-
NR2F1 p.Pro58His
Uncertain significance
Single submitter
Bosch-Boonstra-Schaaf optic atrophy syndrome
- NR2F1 p.Pro64Leu Uncertain significance Single submitter
- NR2F1 p.Ser411Gly Likely benign Single submitter
- NR2F1 p.Ser46Trp Uncertain significance Single submitter
- NR2F1 p.Ser80Ile Conflicting Single submitter
-
NR2F1 p.Thr200Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NR2F1 p.Thr329Met Uncertain significance Single submitter
All NR2F1 variants
Pathogenic 54
- p.Met1Thr Multiple submitters Inborn genetic diseases
- p.Phe110del Multiple submitters Inborn genetic diseases
- c.991+2T>A Single submitter
- p.Arg115Pro Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Arg135Cys Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Arg135Pro Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Arg235Leu Single submitter Neurodevelopmental delay
- p.Arg373Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Asn117fs Single submitter
- p.Cys103Arg Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys122Phe Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys183fs Single submitter Inborn genetic diseases
- p.Gln132Ter Single submitter
- p.Gln139His Single submitter
- p.Gln139Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln303Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln359Ter Single submitter Inborn genetic diseases
- p.Gln40fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln41Ter Single submitter
- p.Gln57Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln81fs Single submitter
- p.Glu346del Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Glu354_Tyr355insTer Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Glu39Ter Single submitter
- p.Gly18fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gly32fs Single submitter Inborn genetic diseases
- p.Gly99fs Single submitter
- p.His97Pro Single submitter
- p.Leu118Ter Single submitter
- p.Leu276Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Leu282fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys144fs Single submitter
- p.Lys145fs Single submitter
- p.Lys148Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys323fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys92Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Met1Leu Single submitter
- p.Met1Lys Single submitter
- p.Met1Val Single submitter
- p.Met406Thr Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Ser113Arg Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Thr200fs Single submitter
- p.Thr255fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Thr63fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Tyr120Ter Single submitter
- p.Tyr203Ter Single submitter
- p.Tyr360fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Val88Met Single submitter
- p.Cys138Tyr No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln28Ter No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys96Glu No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Met151Lys No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Met1Ile No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Tyr171Ter No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
Pathogenic/Likely pathogenic 10
- p.Met151Ile Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Arg142Cys Multiple submitters NR2F1-related disorder
- p.Arg142His Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys106Tyr Multiple submitters Inborn genetic diseases
- p.Cys146Tyr Multiple submitters Inborn genetic diseases
- p.Cys86Arg Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gly105Ser Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys107Arg Multiple submitters
- p.Lys107Glu Multiple submitters NR2F1-related disorder
- p.Ser94Arg Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
Likely pathogenic 72
- c.463+1G>A Multiple submitters NR2F1-related disorder
- p.Arg366Cys Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys122Tyr Multiple submitters Inborn genetic diseases
- p.Cys128Arg Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Leu252Pro Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Leu402fs Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Met151Thr Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Phe109Leu Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Ala223fs Single submitter
- p.Ala224fs Single submitter
- p.Arg112Lys Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Arg112Thr Single submitter
- p.Arg135His Single submitter Inborn genetic diseases
- p.Arg135Leu Single submitter
- p.Arg142Gly Single submitter
- p.Arg142Leu Single submitter Inborn genetic diseases
- p.Arg253Leu Single submitter
- p.Arg31fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Asn362fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys122Arg Single submitter Seizure
- p.Cys122Ser Single submitter
- p.Cys128Tyr Single submitter NR2F1-related disorder
- p.Cys141Gly Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys321Tyr Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Cys350Ter Single submitter
- p.Cys89Gly Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln244Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln345Ter Single submitter NR2F1-related disorder
- p.Gln387Ter Single submitter
- p.Gln82Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Glu104Ala Single submitter Paediatric disorders
- p.Glu104Gln Single submitter
- p.Glu104Val Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Glu318Gly Single submitter
- p.Glu318Ter Single submitter
- p.Gly105Ala Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gly105Val Single submitter NR2F1-related disorder
- p.Gly395Ala Single submitter autism spectrum disorder
- p.Gly47fs Single submitter NR2F1-related disorder
- p.Gly65fs Single submitter
- p.His134Pro Single submitter NR2F1-related disorder
- p.His97Tyr Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Leu118fs Single submitter
- p.Leu352fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Leu372Pro Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys111Glu Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Lys70fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Met151Ile Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Phe109Cys Single submitter NR2F1-related disorder
- p.Phe109fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Phe110Leu Single submitter
- p.Phe228dup Single submitter Inborn genetic diseases
- p.Phe295fs Single submitter
- p.Phe390del Single submitter
- p.Phe390Ser Single submitter NR2F1-related disorder
- p.Pro166Leu Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Ser108Asn Single submitter Neurodevelopmental delay
- p.Ser108Ile Single submitter
- p.Ser93Ter Single submitter
- p.Thr329fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Tyr319Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Tyr98Cys Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Tyr98His Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Val114Leu Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Val156Phe Single submitter Paediatric disorders
- p.Val384fs Single submitter
- p.Val394Gly Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln349fs No assertion criteria optic atrophy
- p.Gly95Asp No assertion criteria NR2F1-related disorder
- p.His97Asp No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Leu371Pro No assertion criteria Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Ser93Leu No assertion criteria Seizure
Conflicting classifications of pathogenicity 26
- c.991+8_991+29dup Single submitter
- p.Ala37_Gly38dup Single submitter Inborn genetic diseases
- p.Arg366His Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Asn24Lys Single submitter Inborn genetic diseases ⚠
- p.Asn263Ser Single submitter Inborn genetic diseases ⚠
- p.Asp14Tyr Single submitter Inborn genetic diseases
- p.Cys86Phe Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Cys89Arg Single submitter ⚠
- p.Cys89Tyr Single submitter epilepsy ⚠
- p.Glu104Lys Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Glu342Lys Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Gly169Ser Single submitter ⚠
- p.Gly35_Gly36del Single submitter
- p.Gly36_Gly38dup Single submitter
- p.Gly36dup Single submitter
- p.Gly99Val Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.His50Gln Single submitter ⚠
- p.His97= Single submitter
- p.Ile341Val Single submitter Inborn genetic diseases ⚠
- p.Leu222Pro Single submitter ⚠
- p.Ser268Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser7Asn Single submitter Inborn genetic diseases ⚠
- p.Ser80Ile Single submitter ⚠
- p.Tyr120Cys Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Tyr355Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Val5Ala Single submitter Inborn genetic diseases
Benign 6
- p.Thr54= Multiple submitters
- c.464-43C>T Single submitter
- c.*50C>T Single submitter
- p.Asn211Ser Single submitter
- p.Gly18Val Single submitter
- p.Ile237Met Single submitter ⚠
Benign/Likely benign 9
Likely benign 140
- p.Pro20= Multiple submitters
- c.464-11_464-8del Multiple submitters
- c.464-20TC[2] Multiple submitters
- c.991+10C>A Multiple submitters
- c.991+12del Multiple submitters
- c.992-16G>A Multiple submitters
- c.-1588T>C Multiple submitters
- c.-187G>A Multiple submitters
- p.Ala16= Multiple submitters
- p.Ala230= Multiple submitters
- p.Ala278= Multiple submitters
- p.Ala280= Multiple submitters
- p.Ala338= Multiple submitters
- p.Arg404= Multiple submitters
- p.Asn180= Multiple submitters
- p.Asn236= Multiple submitters
- p.Cys128= Multiple submitters
- p.Cys350= Multiple submitters
- p.Gln421= Multiple submitters
- p.Gly22= Multiple submitters
- p.Gly36del Multiple submitters Inborn genetic diseases
- p.Ile301= Multiple submitters
- p.Ile341= Multiple submitters
- p.Ile385= Multiple submitters
- p.Leu222= Multiple submitters
- p.Leu252= Multiple submitters
- p.Leu271= Multiple submitters
- p.Leu327= Multiple submitters
- p.Lys92= Multiple submitters
- p.Pro20= Multiple submitters
- p.Pro416= Multiple submitters
- p.Pro61= Multiple submitters
- p.Ser186= Multiple submitters
- p.Ser348= Multiple submitters
- p.Ser382= Multiple submitters
- p.Ser383= Multiple submitters
- p.Thr51= Multiple submitters
- p.Thr63= Multiple submitters
- p.Tyr171= Multiple submitters
- p.Tyr355= Multiple submitters
- p.Val380= Multiple submitters
- p.Ala37= Single submitter
- c.463+13_463+15del Single submitter
- c.463+5A>G Single submitter
- c.463+7A>G Single submitter
- c.463+99C>G Single submitter
- c.464-19C>T Single submitter
- c.464-5G>A Single submitter
- c.464-7_464-6del Single submitter
- c.464-9_464-6del Single submitter
- c.991+17_991+38dup Single submitter
- c.991+17G>T Single submitter
- c.991+19G>A Single submitter
- c.991+20G>A Single submitter
- c.991+9G>A Single submitter
- c.992-19C>T Single submitter
- c.992-4del Single submitter
- c.992-6G>T Single submitter
- c.-1751CT[11] Single submitter
- c.-1761A>G Single submitter
- c.-33C>T Single submitter
- p.Ala155= Single submitter
- p.Ala195= Single submitter
- p.Ala265= Single submitter
- p.Ala27= Single submitter
- p.Ala289= Single submitter
- p.Ala30= Single submitter
- p.Ala339= Single submitter
- p.Ala351= Single submitter
- p.Ala37= Single submitter
- p.Arg116= Single submitter
- p.Arg126= Single submitter
- p.Arg235= Single submitter
- p.Arg378= Single submitter
- p.Asn117= Single submitter
- p.Asn19= Single submitter
- p.Asn362= Single submitter
- p.Asp10Gly Single submitter
- p.Asp131= Single submitter
- p.Asp177= Single submitter
- p.Asp242= Single submitter
- p.Asp247= Single submitter
- p.Asp297= Single submitter
- p.Asp315= Single submitter
- p.Cys138= Single submitter
- p.Cys183= Single submitter
- p.Cys207= Single submitter
- p.Cys267= Single submitter
- p.Cys86= Single submitter
- p.Gln100= Single submitter
- p.Gln41= Single submitter
- p.Gln42= Single submitter
- p.Gln421Pro Single submitter
- p.Gln82= Single submitter
- p.Glu217= Single submitter
- p.Glu258= Single submitter
- p.Glu304= Single submitter
- p.Gly17= Single submitter
- p.Gly21= Single submitter
- p.Gly215= Single submitter
- p.Gly281= Single submitter
- p.Gly34= Single submitter
- p.Gly34_Gly36dup Single submitter
- p.Gly38= Single submitter
- p.Gly38Cys Single submitter ⚠
- p.His272= Single submitter
- p.His298= Single submitter
- p.His313= Single submitter
- p.Ile213= Single submitter
- p.Ile325= Single submitter
- p.Leu143= Single submitter
- p.Leu173= Single submitter
- p.Leu227= Single submitter
- p.Leu277= Single submitter
- p.Leu282= Single submitter
- p.Leu371= Single submitter
- p.Leu407= Single submitter
- p.Lys111= Single submitter
- p.Lys96= Single submitter
- p.Phe101= Single submitter
- p.Phe390= Single submitter
- p.Pro25= Single submitter
- p.Pro270= Single submitter
- p.Pro364= Single submitter
- p.Pro55= Single submitter
- p.Pro58= Single submitter
- p.Ser201Thr Single submitter
- p.Ser285= Single submitter
- p.Ser376= Single submitter
- p.Ser411Gly Single submitter ⚠
- p.Ser46= Single submitter
- p.Ser77= Single submitter
- p.Ser93= Single submitter
- p.Ser94= Single submitter
- p.Thr246= Single submitter
- p.Thr255= Single submitter
- p.Thr329= Single submitter
- p.Thr66= Single submitter
- p.Tyr198= Single submitter
- p.Val391= Single submitter
Uncertain significance 167
- p.Ala27Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala332Thr Multiple submitters
- p.Ala338Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala37Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg225Pro Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Arg300His Multiple submitters ⚠
- p.Asn212del Multiple submitters
- p.Asp69His Multiple submitters Inborn genetic diseases ⚠
- p.Cys183Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu307Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu39Asp Multiple submitters ⚠
- p.Gly17Arg Multiple submitters Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gly34Val Multiple submitters ⚠
- p.Gly71Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu173Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met287Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro178Leu Multiple submitters ⚠
- p.Ser229Arg Multiple submitters ⚠
- p.Ser46Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser6Asn Multiple submitters ⚠
- p.Thr121Ala Multiple submitters ⚠
- p.Thr66Met Multiple submitters ⚠
- p.Val314Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val384Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val391Ile Multiple submitters ⚠
- c.462_463+19del Single submitter NR2F1-related disorder
- c.463+5A>C Single submitter
- c.463+6T>C Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- c.464-3del Single submitter Inborn genetic diseases
- c.991+5G>A Single submitter
- c.*649T>C Single submitter
- p.Gly17Arg Single submitter
- p.Ala16Thr Single submitter Inborn genetic diseases ⚠
- p.Ala223Pro Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Ala264Gly Single submitter ⚠
- p.Ala26Ser Single submitter ⚠
- p.Ala26Thr Single submitter ⚠
- p.Ala29Thr Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala2Val Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Ala311Thr Single submitter ⚠
- p.Ala338Val Single submitter inherited retinal dystrophy ⚠
- p.Ala339Asp Single submitter
- p.Ala351Thr Single submitter ⚠
- p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla Single submitter
- p.Ala44Gly Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala48_His50del Single submitter
- p.Ala60_Gly65del Single submitter
- p.Ala60Val Single submitter Inborn genetic diseases ⚠
- p.Ala62Pro Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Arg115Leu Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Arg153= Single submitter
- p.Arg225His Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg31Gln Single submitter
- p.Arg31Ser Single submitter Inborn genetic diseases ⚠
- p.Arg357Ser Single submitter ⚠
- p.Arg366Ser Single submitter ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg404Cys Single submitter ⚠
- p.Asn117Lys Single submitter ⚠
- p.Asn125Lys Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asn24Ser Single submitter ⚠
- p.Asn414Ser Single submitter ⚠
- p.Asp131Asn Single submitter ⚠
- p.Asp14Ala Single submitter Inborn genetic diseases ⚠
- p.Asp177_Gly181del Single submitter
- p.Asp177Gly Single submitter ⚠
- p.Cys146Phe Single submitter ⚠
- p.Cys333Gly Single submitter Inborn genetic diseases ⚠
- p.Cys422fs Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln12Arg Single submitter ⚠
- p.Gln132Arg Single submitter ⚠
- p.Gln137Pro Single submitter ⚠
- p.Gln157Glu Single submitter ⚠
- p.Gln157His Single submitter ⚠
- p.Gln206Ter Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gln53His Single submitter ⚠
- p.Glu154Lys Single submitter ⚠
- p.Glu196Lys Single submitter ⚠
- p.Glu342Gln Single submitter ⚠
- p.Glu354Lys Single submitter ⚠
- p.Glu39Ala Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu85Asp Single submitter ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly150Ser Single submitter ⚠
- p.Gly187Arg Single submitter NR2F1-related disorder ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly281Arg Single submitter ⚠
- p.Gly33= Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Gly34_Gly36del Single submitter
- p.Gly35Ala Single submitter ⚠
- p.Gly36_Ala37insGlyGly Single submitter
- p.Gly36Ser Single submitter ⚠
- p.Gly38_Glu39insGlyGlyAlaGly Single submitter
- p.Gly38Ser Single submitter ⚠
- p.Gly45Ala Single submitter ⚠
- p.Gly59= Single submitter
- p.Gly65Ser Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.Gly76Ala Single submitter Inborn genetic diseases ⚠
- p.Gly76Ser Single submitter ⚠
- p.Gly78Ala Single submitter ⚠
- p.His298Asn Single submitter ⚠
- p.Ile189Leu Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Ile301Val Single submitter ⚠
- p.Ile325Thr Single submitter ⚠
- p.Ile325Val Single submitter ⚠
- p.Ile341Met Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome
- p.Ile403del Single submitter
- p.Leu192Val Single submitter ⚠
- p.Leu226Arg Single submitter ⚠
- p.Leu226Pro Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Leu227Phe Single submitter ⚠
- p.Leu252Gln Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu262Val Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Leu277Pro Single submitter ⚠
- p.Leu282Val Single submitter ⚠
- p.Leu402Arg Single submitter ⚠
- p.Leu402Val Single submitter ⚠
- p.Lys70Asn Single submitter ⚠
- p.Met214Ile Single submitter ⚠
- p.Met269Ile Single submitter ⚠
- p.Met296Lys Single submitter Inborn genetic diseases ⚠
- p.Met296Val Single submitter ⚠
- p.Met418Ile Single submitter
- p.Phe239Leu Single submitter ⚠
- p.Phe260Val Single submitter ⚠
- p.Phe390Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro166Thr Single submitter
- p.Pro20His Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro20Ser Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Pro23= Single submitter
- p.Pro241Arg Single submitter ⚠
- p.Pro25Ala Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro286Ala Single submitter ⚠
- p.Pro398Ala Single submitter ⚠
- p.Pro58His Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Pro58Thr Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro74Leu Single submitter Inborn genetic diseases ⚠
- p.Pro74Ser Single submitter ⚠
- p.Ser108= Single submitter
- p.Ser250Ala Single submitter Inborn genetic diseases ⚠
- p.Ser285Leu Single submitter
- p.Ser330Ala Single submitter ⚠
- p.Ser412Thr Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Ser46Trp Single submitter ⚠
- p.Thr200Lys Single submitter Inborn genetic diseases ⚠
- p.Thr255Ser Single submitter ⚠
- p.Thr329Met Single submitter ⚠
- p.Thr379Ser Single submitter ⚠
- p.Val114Ala Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Val306Met Single submitter Bosch-Boonstra-Schaaf optic atrophy syndrome ⚠
- p.Val314Ile Single submitter ⚠
- p.Val391fs Single submitter
- p.Ala172Pro No assertion criteria NR2F1-related disorder ⚠