NF2 — 2362 ClinVar variants

All ClinVar germline NF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 972 flagged for review →

217 Pathogenic · 13 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 143 Conflicting · 57 Benign · 24 Benign/Likely benign · 679 Likely benign · 1184 Uncertain significance

Full NF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 972

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 66

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

NF2 p.Ala199Thr Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Ala238Val Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Ala340Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ala340Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ala585Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg291His Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Arg411Cys Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg418His Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg424Leu Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg462His Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg466Gln Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg57Gln Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Arg588Gln Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Asn36Ser Conflicting Single submitter
NF2-related disorder
NF2 p.Asn371Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Asn540Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Asn563Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Asp281His Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Asp567Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Asp567Glu Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Glu112Lys Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Glu328Val Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Glu38Ala Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Glu38Asp Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Glu527Asp Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Glu547Lys Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Gly218Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Gly229Cys Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Gly302Arg Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Gly502Asp Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.His84Arg Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.His84Gln Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ile301Val Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Ile487Val Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ile501Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ile501Val Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Leu141Arg Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Leu214Pro Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Leu316Trp Conflicting Single submitter
Hereditary cancer
NF2 p.Leu398Pro Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Leu49Met Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Lys228Arg Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Lys322Asn Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Met484Val Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Met529Val Conflicting Single submitter
familial meningioma
NF2 p.Phe592Leu Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Phe61Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Phe62Ser Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Pro181Leu Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Pro482Arg Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Pro482Leu Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Pro490Leu Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Pro490Ser Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Ser156Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ser497Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ser571Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Thr352Met Conflicting Single submitter
familial meningioma
NF2 p.Thr477Ile Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Thr480Met Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Tyr153His Conflicting Single submitter
familial meningioma
NF2 p.Tyr221Cys Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Tyr66Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Val146Ile Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Val435Leu Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Val72Ala Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Val92Ile Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 3

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.

NF2 c.1000-2A>G Conflicting Single submitter
NF2-related schwannomatosis
NF2 p.Arg588Ter Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Met1Val Conflicting Single submitter
NF2-related schwannomatosis

Predictors lean, ClinVar uncertain 622

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 622

NF2 p.Ala203Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala223Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala2Ser Uncertain significance Multiple submitters
SMARCB1-related schwannomatosis
NF2 p.Ala325Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ala367Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ala399Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala403Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala414Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala416Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala433Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala441Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala441Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala448Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala448Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala448Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala489Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ala4Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala557Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ala585Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala98Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg160Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg172Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg196Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg200Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg225Gln Uncertain significance Multiple submitters
familial meningioma
NF2 p.Arg25Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg25Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg262Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg291Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg326Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg331Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg336Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg338Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg341Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg341Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg341Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg346Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg353Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg353Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg359Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg376Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg411Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg424Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg424Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg446Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg467Lys Uncertain significance Multiple submitters
familial meningioma
NF2 p.Arg516Trp Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg52Trp Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg554Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg568Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asn226His Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn263Ser Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn36Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asn36Ile Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn485Tyr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn499Ser Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn540Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asn563Asp Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn563Lys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn565Tyr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp154His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp201Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp201Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp201Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp277Glu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp30Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp30Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp314Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp354Asn Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp452Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp452Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp45Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp48Asn Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp494Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp503Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp559Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp559His Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp559Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp83His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln111Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln115Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln121Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln18Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln324Glu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gln407Arg Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gln410Arg Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gln453Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln456Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu106Asp Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu107Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu166Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu186Asp Uncertain significance Multiple submitters
familial meningioma
NF2 p.Glu204Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu342Ala Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu342Gln Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu355Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu355Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu366Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu372Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu392Lys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu421Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu422Lys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu427Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu434Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu443Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu474Asp Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu530Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu537Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu537Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu564Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu58Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gly197Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gly218Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gly502Cys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gly502Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gly569Asp Uncertain significance Multiple submitters
familial meningioma
NF2 p.Gly569Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gly570Ser Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.His242Gln Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.His534Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.His562Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.His574Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.His574Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.His574Tyr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.His84Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile126Val Uncertain significance Multiple submitters
familial meningioma
NF2 p.Ile131Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile210Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile224Met Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile243Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile26Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile273Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile296Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile475Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile487Leu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile487Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile487Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile495Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile521Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile560Phe Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile560Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile5Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile5Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile68Val Uncertain significance Multiple submitters
familial meningioma
NF2 p.Leu109Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu117Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Leu120Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu250Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu299Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu306Val Uncertain significance Multiple submitters
familial meningioma

Predictors split 281

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 281

NF2 p.Ala145Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala193Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ala199Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala373Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ala388Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala590Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg172Lys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg187Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg196Gln Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg225Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg346Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg359Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg376Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg418Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg424Cys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg447Met Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg447Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg466Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg466Leu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg467Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg52Gln Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg554Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Arg8His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Arg8Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asn293Ser Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asn371Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp128Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp201Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp245Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp457Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp45Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp508His Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp511Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Asp511Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Asp70His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Cys51Ser Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gln115Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Gln115Lys Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gln121Glu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gln344Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu167Ala Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu194Asp Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu231Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu460Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu463Lys Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu520Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu527Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu537Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu545Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu553Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Glu553Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu564Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Glu90Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Gly3Arg Uncertain significance Multiple submitters
familial meningioma
NF2 p.His158Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.His562Asn Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.His562Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.His574Pro Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Ile174Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile26Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ile521Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu397Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu539Phe Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Leu539Val Uncertain significance Multiple submitters
familial meningioma
NF2 p.Leu549Phe Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Leu595Phe Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Leu75Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Leu97Phe Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Lys123Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys253Asn Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Lys279Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys289Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys364Asn Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Lys401Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys413Glu Uncertain significance Multiple submitters
familial meningioma
NF2 p.Lys423Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys455Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Lys523Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys531Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Lys578Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Met29Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Met308Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Met363Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Met426Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Met519Ile Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Met77Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Met9Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Met9Thr Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Met9Val Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Phe162Leu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Phe307Leu Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Pro19Arg Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Pro19Ser Uncertain significance Multiple submitters
familial meningioma
NF2 p.Pro257Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ser267Gly Uncertain significance Multiple submitters
NF2-related schwannomatosis
NF2 p.Thr419Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Thr53Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Thr581Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Val110Leu Uncertain significance Multiple submitters
familial meningioma
NF2 p.Val173Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Val24Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF2 p.Ala137Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala203Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala211Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala238Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala373Glu Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Ala381Thr Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Ala381Val Uncertain significance Single submitter
familial meningioma
NF2 p.Ala385Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala388Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala414Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala451Thr Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Ala461Val Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala464Val Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Ala590Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala590Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala590Val Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Ala6Asp Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Ala6Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Ala6Val Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Arg160Trp Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg172Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Arg172Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Arg25Thr Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Arg311Lys Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg331Thr Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Arg351His Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg358Ser Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Arg376Gln Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg411His Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg418Cys Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg418Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Arg424His Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Arg8Cys Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Arg8Pro Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Arg8Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF2 p.Asn175Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asn286Asp Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Asp213Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asp213Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asp245Val Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asp354His Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Asp382Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asp457Val Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Asp45Ala Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asp45His Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Asp508Gly Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Asp508Tyr Uncertain significance Single submitter
NF2-related schwannomatosis
NF2 p.Gln298Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
NF2 p.Gln536His Uncertain significance Single submitter
NF2-related schwannomatosis

All NF2 variants

Pathogenic 217

c.1340+1G>T Multiple submitters NF2-related schwannomatosis
c.1340+2T>G Multiple submitters NF2-related schwannomatosis
c.1447-1G>A Multiple submitters NF2-related schwannomatosis
c.1575-2A>G Multiple submitters hereditary neoplastic syndrome
c.1737+1G>T Multiple submitters hereditary neoplastic syndrome
c.240+1G>C Multiple submitters NF2-related schwannomatosis
c.240+2T>C Multiple submitters NF2-related schwannomatosis
c.447+2T>C Multiple submitters NF2-related schwannomatosis
c.448-1G>A Multiple submitters SMARCB1-related schwannomatosis
c.448-2A>G Multiple submitters hereditary neoplastic syndrome
c.517-1G>A Multiple submitters hereditary neoplastic syndrome
p.Ala4fs Multiple submitters NF2-related schwannomatosis
p.Arg196Ter Multiple submitters NF2-related schwannomatosis
p.Arg198Ter Multiple submitters hereditary neoplastic syndrome
p.Arg262Ter Multiple submitters NF2-related schwannomatosis
p.Arg336fs Multiple submitters NF2-related schwannomatosis
p.Arg341Ter Multiple submitters hereditary neoplastic syndrome
p.Arg411fs Multiple submitters hereditary neoplastic syndrome
p.Arg466Ter Multiple submitters hereditary neoplastic syndrome
p.Arg57Ter Multiple submitters hereditary neoplastic syndrome
p.Asn220Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys37Ter Multiple submitters NF2-related schwannomatosis
p.Gln212Ter Multiple submitters NF2-related schwannomatosis
p.Gln389Ter Multiple submitters NF2-related schwannomatosis
p.Gln407Ter Multiple submitters NF2-related schwannomatosis
p.Gln410Ter Multiple submitters NF2-related schwannomatosis
p.Gln536Ter Multiple submitters NF2-related schwannomatosis
p.Gln538Ter Multiple submitters NF2-related schwannomatosis
p.Gln65Ter Multiple submitters NF2-related schwannomatosis
p.Glu204Ter Multiple submitters NF2-related disorder
p.Glu372Ter Multiple submitters NF2-related schwannomatosis
p.Glu445fs Multiple submitters NF2-related schwannomatosis
p.Glu527Ter Multiple submitters NF2-related schwannomatosis
p.Glu541Ter Multiple submitters hereditary neoplastic syndrome
p.Lys449fs Multiple submitters NF2-related schwannomatosis
p.Lys515Ter Multiple submitters NF2-related schwannomatosis
p.Lys543Ter Multiple submitters hereditary neoplastic syndrome
p.Trp258Ter Multiple submitters NF2-related schwannomatosis
p.Trp41Ter Multiple submitters NF2-related schwannomatosis
c.1122+1G>A Single submitter NF2-related schwannomatosis
c.1122+1G>T Single submitter NF2-related schwannomatosis
c.1123-2A>G Single submitter NF2-related schwannomatosis
c.114+1G>T Single submitter NF2-related schwannomatosis
c.1341-1G>A Single submitter NF2-related schwannomatosis
c.1341-2A>G Single submitter NF2-related schwannomatosis
c.1446+1G>A Single submitter NF2-related schwannomatosis
c.1447-2del Single submitter NF2-related schwannomatosis
c.1574+1del Single submitter NF2-related schwannomatosis
c.1574+1G>A Single submitter NF2-related schwannomatosis
c.1574+1G>C Single submitter NF2-related schwannomatosis
c.1574+2T>A Single submitter NF2-related schwannomatosis
c.1575-1G>C Single submitter hereditary neoplastic syndrome
c.1575-6C>A Single submitter NF2-related schwannomatosis
c.1737+1G>C Single submitter NF2-related schwannomatosis
c.1737+3A>T Single submitter NF2-related disorder
c.241-1G>A Single submitter NF2-related schwannomatosis
c.241-2A>G Single submitter NF2-related schwannomatosis
c.241-9A>G Single submitter NF2-related schwannomatosis
c.363+1G>A Single submitter SMARCB1-related schwannomatosis
c.363+1G>T Single submitter NF2-related schwannomatosis
c.364-2A>C Single submitter NF2-related schwannomatosis
c.447+1del Single submitter NF2-related schwannomatosis
c.447+1G>A Single submitter NF2-related schwannomatosis
c.516+2T>G Single submitter NF2-related schwannomatosis
c.517-2A>G Single submitter NF2-related schwannomatosis
c.517-92_568del Single submitter NF2-related schwannomatosis
c.599+2T>G Single submitter NF2-related schwannomatosis
c.600-14C>A Single submitter NF2-related schwannomatosis
c.600-1G>A Single submitter familial meningioma
c.675+1G>C Single submitter
c.675+1G>T Single submitter hereditary neoplastic syndrome
c.676-1G>T Single submitter NF2-related schwannomatosis
c.676-2A>G Single submitter NF2-related schwannomatosis
c.810+2T>C Single submitter NF2-related schwannomatosis
c.885+1G>A Single submitter familial meningioma
c.999+1G>A Single submitter NF2-related schwannomatosis
c.999+2_999+3del Single submitter NF2-related schwannomatosis
c.999+2T>G Single submitter NF2-related schwannomatosis
c.-443-?_*3798+?del Single submitter NF2-related schwannomatosis
p.Ala145fs Single submitter NF2-related schwannomatosis
p.Ala313fs Single submitter NF2-related schwannomatosis
p.Ala340fs Single submitter NF2-related schwannomatosis
p.Ala370fs Single submitter NF2-related schwannomatosis
p.Ala388fs Single submitter NF2-related schwannomatosis
p.Ala451fs Single submitter NF2-related schwannomatosis
p.Arg160fs Single submitter hereditary neoplastic syndrome
p.Arg249fs Single submitter NF2-related schwannomatosis
p.Arg249Ter Single submitter hereditary neoplastic syndrome
p.Arg341fs Single submitter NF2-related schwannomatosis
p.Arg351fs Single submitter NF2-related schwannomatosis
p.Arg353fs Single submitter NF2-related schwannomatosis
p.Arg359fs Single submitter NF2-related schwannomatosis
p.Arg554fs Single submitter NF2-related schwannomatosis
p.Asn220fs Single submitter NF2-related schwannomatosis
p.Asn293fs Single submitter NF2-related schwannomatosis
p.Asp354fs Single submitter NF2-related schwannomatosis
p.Asp503fs Single submitter hereditary neoplastic syndrome
p.Asp513_Met514insTer Single submitter hereditary neoplastic syndrome
p.Cys300fs Single submitter NF2-related schwannomatosis
p.Gln121Ter Single submitter NF2-related schwannomatosis
p.Gln125fs Single submitter NF2-related schwannomatosis
p.Gln147fs Single submitter NF2-related schwannomatosis
p.Gln147Ter Single submitter NF2-related schwannomatosis
p.Gln165fs Single submitter hereditary neoplastic syndrome
p.Gln165Ter Single submitter NF2-related schwannomatosis
p.Gln298Ter Single submitter NF2-related schwannomatosis
p.Gln320Ter Single submitter hereditary neoplastic syndrome
p.Gln324fs Single submitter NF2-related schwannomatosis
p.Gln324Ter Single submitter hereditary neoplastic syndrome
p.Gln344fs Single submitter NF2-related schwannomatosis
p.Gln362Ter Single submitter NF2-related schwannomatosis
p.Gln400fs Single submitter NF2-related schwannomatosis
p.Gln400Ter Single submitter NF2-related schwannomatosis
p.Gln410fs Single submitter NF2-related schwannomatosis
p.Gln428Ter Single submitter hereditary neoplastic syndrome
p.Gln459Ter Single submitter hereditary neoplastic syndrome
p.Gln470Ter Single submitter NF2-related schwannomatosis
p.Glu107_Leu109delinsTer Single submitter NF2-related schwannomatosis
p.Glu107fs Single submitter NF2-related schwannomatosis
p.Glu108fs Single submitter NF2-related schwannomatosis
p.Glu112fs Single submitter NF2-related schwannomatosis
p.Glu167Ter Single submitter NF2-related schwannomatosis
p.Glu182Ter Single submitter NF2-related schwannomatosis
p.Glu185Ter Single submitter NF2-related schwannomatosis
p.Glu215fs Single submitter NF2-related schwannomatosis
p.Glu215Ter Single submitter NF2-related schwannomatosis
p.Glu247fs Single submitter
p.Glu327Ter Single submitter hereditary neoplastic syndrome
p.Glu335Ter Single submitter NF2-related schwannomatosis
p.Glu347Ter Single submitter NF2-related schwannomatosis
p.Glu355fs Single submitter NF2-related schwannomatosis
p.Glu366fs Single submitter NF2-related schwannomatosis
p.Glu379Ter Single submitter
p.Glu38Ter Single submitter NF2-related schwannomatosis
p.Glu392Ter Single submitter NF2-related schwannomatosis
p.Glu404Ter Single submitter NF2-related schwannomatosis
p.Glu406Ter Single submitter hereditary neoplastic syndrome
p.Glu421Ter Single submitter NF2-related schwannomatosis
p.Glu422Ter Single submitter NF2-related schwannomatosis
p.Glu434Ter Single submitter NF2-related schwannomatosis
p.Glu443Ter Single submitter hereditary neoplastic syndrome
p.Glu463Ter Single submitter NF2-related schwannomatosis
p.Glu522fs Single submitter NF2-related schwannomatosis
p.Glu545Ter Single submitter NF2-related schwannomatosis
p.Glu90fs Single submitter NF2-related schwannomatosis
p.Gly151fs Single submitter NF2-related schwannomatosis
p.Gly161fs Single submitter
p.Gly161Ter Single submitter NF2-related schwannomatosis
p.His195fs Single submitter spindle cell sarcoma
p.His84fs Single submitter NF2-related schwannomatosis
p.Ile188fs Single submitter NF2-related schwannomatosis
p.Ile273fs Single submitter hereditary neoplastic syndrome
p.Ile301fs Single submitter NF2-related schwannomatosis
p.Ile68fs Single submitter NF2-related schwannomatosis
p.Leu14fs Single submitter
p.Leu163fs Single submitter NF2-related schwannomatosis
p.Leu168Ter Single submitter NF2-related schwannomatosis
p.Leu339fs Single submitter NF2-related schwannomatosis
p.Leu472fs Single submitter NF2-related schwannomatosis
p.Leu505fs Single submitter NF2-related schwannomatosis
p.Leu539fs Single submitter NF2-related schwannomatosis
p.Leu549Ter Single submitter NF2-related schwannomatosis
p.Leu97fs Single submitter NF2-related schwannomatosis
p.Lys159fs Single submitter NF2-related schwannomatosis
p.Lys15fs Single submitter NF2-related schwannomatosis
p.Lys17fs Single submitter NF2-related schwannomatosis
p.Lys209fs Single submitter NF2-related schwannomatosis
p.Lys20Ter Single submitter NF2-related schwannomatosis
p.Lys227Ter Single submitter NF2-related schwannomatosis
p.Lys253fs Single submitter hereditary neoplastic syndrome
p.Lys269Ter Single submitter NF2-related schwannomatosis
p.Lys278fs Single submitter NF2-related schwannomatosis
p.Lys312Ter Single submitter NF2-related schwannomatosis
p.Lys343fs Single submitter hereditary neoplastic syndrome
p.Lys40Ter Single submitter NF2-related schwannomatosis
p.Lys413fs Single submitter NF2-related schwannomatosis
p.Lys429fs Single submitter NF2-related schwannomatosis
p.Lys543fs Single submitter NF2-related schwannomatosis
p.Met77fs Single submitter NF2-related schwannomatosis
p.Phe11fs Single submitter
p.Phe507fs Single submitter NF2-related schwannomatosis
p.Phe62fs Single submitter NF2-related schwannomatosis
p.Pro488fs Single submitter hereditary neoplastic syndrome
p.Pro490fs Single submitter
p.Ser156fs Single submitter hereditary neoplastic syndrome
p.Ser288fs Single submitter NF2-related schwannomatosis
p.Ser288Ter Single submitter NF2-related schwannomatosis
p.Ser497fs Single submitter NF2-related schwannomatosis
p.Ser87Ter Single submitter NF2-related schwannomatosis
p.Thr21fs Single submitter NF2-related schwannomatosis
p.Thr23_Val24insTer Single submitter NF2-related schwannomatosis
p.Thr67fs Single submitter hereditary neoplastic syndrome
p.Trp184Ter Single submitter NF2-related disorder
p.Trp258fs Single submitter NF2-related schwannomatosis
p.Trp60fs Single submitter NF2-related schwannomatosis
p.Trp60Ter Single submitter NF2-related schwannomatosis
p.Trp74Ter Single submitter NF2-related schwannomatosis
p.Tyr101fs Single submitter NF2-related schwannomatosis
p.Tyr144Ter Single submitter NF2-related schwannomatosis
p.Tyr150Ter Single submitter hereditary neoplastic syndrome
p.Tyr153fs Single submitter NF2-related schwannomatosis
p.Tyr177Ter Single submitter hereditary neoplastic syndrome
p.Tyr192Ter Single submitter hereditary neoplastic syndrome
p.Tyr217fs Single submitter NF2-related schwannomatosis
p.Tyr221Ter Single submitter hereditary neoplastic syndrome
p.Tyr266Ter Single submitter NF2-related schwannomatosis
p.Tyr481Ter Single submitter
p.Val24fs Single submitter NF2-related schwannomatosis
p.Val81fs Single submitter NF2-related schwannomatosis
p.Gln538Pro No assertion criteria NF2-related schwannomatosis
p.Gly43fs No assertion criteria SMARCB1-related schwannomatosis
p.Leu360Pro No assertion criteria NF2-related schwannomatosis
p.Leu535Pro No assertion criteria NF2-related schwannomatosis
p.Lys332fs No assertion criteria meningioma
p.Lys69fs No assertion criteria SMARCB1-related schwannomatosis
p.Pro257_Ile261del No assertion criteria NF2-related schwannomatosis
p.Ser143_Tyr144insTer No assertion criteria NF2-related schwannomatosis

Pathogenic/Likely pathogenic 13

c.1737+2T>C Multiple submitters NF2-related schwannomatosis
c.240+1G>A Multiple submitters hereditary neoplastic syndrome
c.240+1G>T Multiple submitters hereditary neoplastic syndrome
c.363+2T>C Multiple submitters hereditary neoplastic syndrome
c.516+1G>A Multiple submitters NF2-related schwannomatosis
c.599+1G>A Multiple submitters hereditary neoplastic syndrome
c.599+1G>T Multiple submitters NF2-related schwannomatosis
c.600-2A>G Multiple submitters NF2-related schwannomatosis
c.810+1G>A Multiple submitters hereditary neoplastic syndrome
p.Arg187fs Multiple submitters NF2-related schwannomatosis
p.Gln115Ter Multiple submitters NF2-related disorder
p.Leu517Pro Multiple submitters hereditary neoplastic syndrome
p.Val92fs Multiple submitters NF2-related schwannomatosis

Likely pathogenic 45

c.115-1G>A Multiple submitters NF2-related schwannomatosis
c.1447-147_1447-8del Multiple submitters hereditary neoplastic syndrome
c.364-2A>G Multiple submitters hereditary neoplastic syndrome
p.Leu64Pro Multiple submitters NF2-related schwannomatosis
p.Phe119del Multiple submitters NF2-related schwannomatosis
c.114+1G>A Single submitter NF2-related schwannomatosis
c.114+2T>A Single submitter hereditary neoplastic syndrome
c.114+3A>T Single submitter hereditary neoplastic syndrome
c.1340+1G>C Single submitter SMARCB1-related schwannomatosis
c.1447-1G>T Single submitter hereditary neoplastic syndrome
c.1737+2T>A Single submitter NF2-related schwannomatosis
c.223_240+8del Single submitter NF2-related schwannomatosis
c.241-1G>C Single submitter NF2-related schwannomatosis
c.448-1G>T Single submitter hereditary neoplastic syndrome
c.516+1G>T Single submitter Inborn genetic diseases
c.516+232G>A Single submitter NF2-related schwannomatosis
c.593_599+317del Single submitter NF2-related schwannomatosis
c.599+1G>C Single submitter familial meningioma
c.600-2A>T Single submitter NF2-related schwannomatosis
c.675+1del Single submitter NF2-related schwannomatosis
c.675+1G>A Single submitter NF2-related schwannomatosis
c.675+5G>T Single submitter NF2-related schwannomatosis
c.793_810+29del Single submitter NF2-related disorder
c.810+419G>A Single submitter hereditary neoplastic syndrome
c.811-2A>G Single submitter NF2-related schwannomatosis
p.Glu270= Single submitter acoustic neuroma
p.Glu32Ter Single submitter hereditary neoplastic syndrome
p.Glu445Ter Single submitter NF2-related schwannomatosis
p.Glu463fs Single submitter NF2-related disorder
p.Ile5fs Single submitter hereditary neoplastic syndrome
p.Leu398fs Single submitter SMARCB1-related schwannomatosis
p.Leu542His Single submitter NF2-related schwannomatosis ⚠
p.Lys123fs Single submitter NF2-related schwannomatosis
p.Lys123Ter Single submitter
p.Lys15Ter Single submitter NF2-related disorder
p.Lys20fs Single submitter NF2-related schwannomatosis
p.Lys401Ter Single submitter
p.Lys99fs Single submitter NF2-related schwannomatosis
p.Met514Ter Single submitter NF2-related disorder
p.Phe509delinsSerTer Single submitter NF2-related disorder
p.Ser532fs Single submitter NF2-related schwannomatosis
p.Tyr266_Ser267delinsTer Single submitter NF2-related schwannomatosis
p.Val219fs Single submitter NF2-related disorder
p.Val219Met Single submitter
p.Leu141Pro No assertion criteria

Conflicting classifications of pathogenicity 143

c.1000-2A>G Single submitter NF2-related schwannomatosis ⚠
c.1123-6C>T Single submitter hereditary neoplastic syndrome
c.114+6C>T Single submitter NF2-related schwannomatosis
c.1340+8G>T Single submitter NF2-related schwannomatosis
c.1446+5G>A Single submitter hereditary neoplastic syndrome
c.1446+6C>G Single submitter NF2-related schwannomatosis
c.1575-12T>G Single submitter NF2-related schwannomatosis
c.1575-5G>A Single submitter NF2-related disorder
c.1737+1406T>A Single submitter
c.1738-19C>A Single submitter NF2-related schwannomatosis
c.240+15C>T Single submitter NF2-related schwannomatosis
c.241-5T>C Single submitter hereditary neoplastic syndrome
c.363+3A>T Single submitter hereditary neoplastic syndrome
c.364-5T>A Single submitter NF2-related schwannomatosis
c.364-5T>C Single submitter NF2-related schwannomatosis
c.599+3G>A Single submitter NF2-related schwannomatosis
c.599+5G>A Single submitter hereditary neoplastic syndrome
c.600-13G>A Single submitter NF2-related schwannomatosis
c.675+4T>C Single submitter NF2-related schwannomatosis
c.675+5G>A Single submitter NF2-related schwannomatosis
c.676-10G>A Single submitter NF2-related schwannomatosis
c.676-11del Single submitter NF2-related schwannomatosis
c.676-7T>G Single submitter NF2-related schwannomatosis
c.810+8_810+9del Single submitter NF2-related schwannomatosis
c.885+6T>C Single submitter NF2-related schwannomatosis
c.886-3C>T Single submitter NF2-related schwannomatosis
c.886-5C>T Single submitter hereditary neoplastic syndrome
c.*3133A>G Single submitter NF2-related schwannomatosis
c.*359G>A Single submitter familial meningioma
p.Ala199Thr Single submitter NF2-related schwannomatosis ⚠
p.Ala238Val Single submitter NF2-related schwannomatosis ⚠
p.Ala340Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala340Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala433Val Single submitter hereditary neoplastic syndrome
p.Ala464Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala585Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg160Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg291His Single submitter NF2-related schwannomatosis ⚠
p.Arg311Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg336Gln Single submitter familial meningioma
p.Arg338His Single submitter hereditary neoplastic syndrome
p.Arg351Cys Single submitter NF2-related schwannomatosis
p.Arg351His Single submitter hereditary neoplastic syndrome ⚠
p.Arg376Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg411Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg411His Single submitter hereditary neoplastic syndrome ⚠
p.Arg418Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg418His Single submitter hereditary neoplastic syndrome ⚠
p.Arg424His Single submitter hereditary neoplastic syndrome ⚠
p.Arg424Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg462His Single submitter hereditary neoplastic syndrome ⚠
p.Arg466Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg516Gln Single submitter hereditary neoplastic syndrome
p.Arg57Gln Single submitter NF2-related schwannomatosis ⚠
p.Arg588Gln Single submitter NF2-related schwannomatosis ⚠
p.Arg588Ter Single submitter hereditary neoplastic syndrome ⚠
p.Arg8Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn263= Single submitter NF2-related schwannomatosis
p.Asn293= Single submitter NF2-related schwannomatosis
p.Asn36Ser Single submitter NF2-related disorder ⚠
p.Asn371Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn540Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn563Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp281His Single submitter NF2-related schwannomatosis ⚠
p.Asp508Asn Single submitter hereditary neoplastic syndrome
p.Asp567Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp567Glu Single submitter NF2-related schwannomatosis ⚠
p.Asp85= Single submitter hereditary neoplastic syndrome
p.Gln65Arg Single submitter NF2-related schwannomatosis ⚠
p.Glu112Lys Single submitter NF2-related schwannomatosis ⚠
p.Glu328Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu34Gln Single submitter NF2-related schwannomatosis
p.Glu38Ala Single submitter NF2-related schwannomatosis ⚠
p.Glu38Asp Single submitter NF2-related schwannomatosis ⚠
p.Glu434Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu527Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu547Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gly218Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly229Cys Single submitter hereditary neoplastic syndrome ⚠
p.Gly302Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly502Asp Single submitter NF2-related schwannomatosis ⚠
p.His116Arg Single submitter familial meningioma ⚠
p.His84Arg Single submitter hereditary neoplastic syndrome ⚠
p.His84Gln Single submitter hereditary neoplastic syndrome ⚠
p.Ile296Val Single submitter hereditary neoplastic syndrome
p.Ile301Val Single submitter NF2-related schwannomatosis ⚠
p.Ile487Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile501Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile501Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu141Arg Single submitter NF2-related schwannomatosis ⚠
p.Leu214Pro Single submitter NF2-related schwannomatosis ⚠
p.Leu316Trp Single submitter Hereditary cancer ⚠
p.Leu398Pro Single submitter NF2-related schwannomatosis ⚠
p.Leu49Met Single submitter hereditary neoplastic syndrome ⚠
p.Leu500= Single submitter hereditary neoplastic syndrome
p.Leu580_Leu582del Single submitter hereditary neoplastic syndrome
p.Leu82_Asp83del Single submitter hereditary neoplastic syndrome
p.Lys228Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys322Asn Single submitter NF2-related schwannomatosis ⚠
p.Lys579= Single submitter hereditary neoplastic syndrome
p.Lys80= Single submitter hereditary neoplastic syndrome
p.Lys99Arg Single submitter hereditary neoplastic syndrome ⚠
p.Met1Val Single submitter NF2-related schwannomatosis ⚠
p.Met205Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met205Val Single submitter hereditary neoplastic syndrome ⚠
p.Met484Val Single submitter hereditary neoplastic syndrome ⚠
p.Met514Val Single submitter hereditary neoplastic syndrome ⚠
p.Met529Thr Single submitter NF2-related schwannomatosis ⚠
p.Met529Val Single submitter familial meningioma ⚠
p.Phe498= Single submitter hereditary neoplastic syndrome
p.Phe507= Single submitter NF2-related schwannomatosis
p.Phe592Leu Single submitter hereditary neoplastic syndrome ⚠
p.Phe61Ser Single submitter hereditary neoplastic syndrome ⚠
p.Phe62Ser Single submitter NF2-related schwannomatosis ⚠
p.Phe96del Single submitter NF2-related disorder
p.Pro181Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro482= Single submitter hereditary neoplastic syndrome
p.Pro482Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro482Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro490Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro490Ser Single submitter NF2-related schwannomatosis ⚠
p.Ser12= Single submitter hereditary neoplastic syndrome
p.Ser156Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser287= Single submitter hereditary neoplastic syndrome
p.Ser497Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser571Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser572Arg Single submitter NF2-related schwannomatosis ⚠
p.Thr352Met Single submitter familial meningioma ⚠
p.Thr380Ala Single submitter NF2-related schwannomatosis
p.Thr477Ile Single submitter hereditary neoplastic syndrome ⚠
p.Thr480Met Single submitter NF2-related schwannomatosis ⚠
p.Tyr153His Single submitter familial meningioma ⚠
p.Tyr221Cys Single submitter hereditary neoplastic syndrome ⚠
p.Tyr66Asn Single submitter hereditary neoplastic syndrome ⚠
p.Val146Ile Single submitter NF2-related schwannomatosis ⚠
p.Val24Ala Single submitter hereditary neoplastic syndrome ⚠
p.Val430= Single submitter hereditary neoplastic syndrome
p.Val435Leu Single submitter hereditary neoplastic syndrome ⚠
p.Val50= Single submitter NF2-related schwannomatosis
p.Val589= Single submitter NF2-related schwannomatosis
p.Val589Met Single submitter hereditary neoplastic syndrome ⚠
p.Val72Ala Single submitter NF2-related schwannomatosis ⚠
p.Val92Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 57

c.1122+129A>T Multiple submitters
c.1123-51C>T Multiple submitters
c.1575-67G>A Multiple submitters NF2-related schwannomatosis
c.1737+135T>C Multiple submitters
c.241-58G>A Multiple submitters
c.241-85G>T Multiple submitters
c.364-39A>C Multiple submitters NF2-related schwannomatosis
c.516+259A>C Multiple submitters
c.886-205C>T Multiple submitters
c.*1087C>T Multiple submitters NF2-related schwannomatosis
c.*1208C>T Multiple submitters NF2-related schwannomatosis
c.*1792G>A Multiple submitters NF2-related schwannomatosis
c.*1904A>G Multiple submitters NF2-related schwannomatosis
c.*2224A>G Multiple submitters NF2-related schwannomatosis
c.*2235G>A Multiple submitters NF2-related schwannomatosis
c.*2455T>C Multiple submitters NF2-related schwannomatosis
c.*2468C>G Multiple submitters NF2-related schwannomatosis
c.*2759G>A Multiple submitters NF2-related schwannomatosis
c.*2876T>C Multiple submitters NF2-related schwannomatosis
c.*2922G>A Multiple submitters NF2-related schwannomatosis
c.*3274G>A Multiple submitters NF2-related schwannomatosis
c.*354T>C Multiple submitters NF2-related schwannomatosis
c.*3575G>A Multiple submitters NF2-related schwannomatosis
c.*974C>T Multiple submitters NF2-related schwannomatosis
c.1000-212_1000-210del Single submitter
c.114+19del Single submitter NF2-related schwannomatosis
c.114+335dup Single submitter
c.115-256A>C Single submitter
c.1340+248A>G Single submitter
c.1446+13del Single submitter NF2-related schwannomatosis
c.1447-222_1447-216dup Single submitter
c.1574+173G>A Single submitter
c.1737+5C>G Single submitter hereditary neoplastic syndrome
c.1738-283C>T Single submitter
c.240+171T>A Single submitter
c.363+24dup Single submitter NF2-related schwannomatosis
c.364-291C>G Single submitter
c.516+22del Single submitter NF2-related schwannomatosis
c.517-150C>T Single submitter
c.599+40C>T Single submitter NF2-related schwannomatosis
c.600-154G>A Single submitter
c.600-215A>G Single submitter
c.600-239C>A Single submitter
c.676-249G>A Single submitter
c.810+246A>G Single submitter
c.885+183del Single submitter
c.886-248GT[3] Single submitter
c.999+296A>G Single submitter
c.-752G>C Single submitter
c.*1270T>C Single submitter NF2-related schwannomatosis
c.*1640A>C Single submitter NF2-related schwannomatosis
c.*2077C>T Single submitter NF2-related schwannomatosis
c.*2408G>A Single submitter NF2-related schwannomatosis
c.*3208G>A Single submitter NF2-related schwannomatosis
c.*3319del Single submitter
c.*503C>T Single submitter NF2-related schwannomatosis
c.*720G>A Single submitter NF2-related schwannomatosis

Benign/Likely benign 24

c.1000-16T>C Multiple submitters NF2-related schwannomatosis
c.114+20G>T Multiple submitters NF2-related schwannomatosis
c.1341-7C>T Multiple submitters NF2-related schwannomatosis
c.1447-11C>T Multiple submitters NF2-related schwannomatosis
c.1737+1623T>C Multiple submitters
c.447+6C>T Multiple submitters NF2-related schwannomatosis
c.448-17C>T Multiple submitters NF2-related schwannomatosis
c.811-17C>G Multiple submitters NF2-related schwannomatosis
c.886-15C>T Multiple submitters NF2-related schwannomatosis
c.999+15G>A Multiple submitters NF2-related schwannomatosis
c.-18G>A Multiple submitters NF2-related schwannomatosis
c.*4G>A Multiple submitters hereditary neoplastic syndrome
p.Ala4= Multiple submitters hereditary neoplastic syndrome
p.Ala464= Multiple submitters NF2-related schwannomatosis
p.Asn371= Multiple submitters hereditary neoplastic syndrome
p.Gln583= Multiple submitters hereditary neoplastic syndrome
p.Glu463Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.His304= Multiple submitters hereditary neoplastic syndrome
p.His84= Multiple submitters NF2-related schwannomatosis
p.Ile68= Multiple submitters NF2-related schwannomatosis
p.Met484Thr Multiple submitters hereditary neoplastic syndrome
p.Pro155= Multiple submitters hereditary neoplastic syndrome
p.Ser584= Multiple submitters hereditary neoplastic syndrome
p.Tyr177= Multiple submitters hereditary neoplastic syndrome

Likely benign 679

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

c.1000-4G>A Multiple submitters hereditary neoplastic syndrome
c.1000-5C>T Multiple submitters hereditary neoplastic syndrome
c.1000-7C>G Multiple submitters hereditary neoplastic syndrome
c.115-15G>T Multiple submitters NF2-related schwannomatosis
c.115-4G>A Multiple submitters hereditary neoplastic syndrome
c.1340+13C>T Multiple submitters NF2-related schwannomatosis
c.1447-15A>T Multiple submitters NF2-related schwannomatosis
c.1447-18G>A Multiple submitters NF2-related schwannomatosis
c.1447-19C>T Multiple submitters NF2-related schwannomatosis
c.1447-20C>A Multiple submitters NF2-related schwannomatosis
c.1447-6T>C Multiple submitters NF2-related schwannomatosis
c.1447-8A>G Multiple submitters NF2-related schwannomatosis
c.1574+11C>A Multiple submitters NF2-related schwannomatosis
c.1575-13C>T Multiple submitters NF2-related schwannomatosis
c.1575-6C>T Multiple submitters NF2-related schwannomatosis
c.1737+2183G>A Multiple submitters
c.1738-10T>C Multiple submitters NF2-related schwannomatosis
c.1738-17_1738-15del Multiple submitters NF2-related schwannomatosis
c.241-4G>T Multiple submitters NF2-related schwannomatosis
c.241-7T>C Multiple submitters NF2-related schwannomatosis
c.363+19C>A Multiple submitters NF2-related schwannomatosis
c.364-10C>A Multiple submitters NF2-related schwannomatosis
c.364-12T>C Multiple submitters NF2-related schwannomatosis
c.364-15_364-14insC Multiple submitters NF2-related schwannomatosis
c.364-3C>T Multiple submitters hereditary neoplastic syndrome
c.364-9T>C Multiple submitters NF2-related schwannomatosis
c.448-4C>G Multiple submitters hereditary neoplastic syndrome
c.448-5T>C Multiple submitters hereditary neoplastic syndrome
c.517-11T>C Multiple submitters NF2-related schwannomatosis
c.517-12A>G Multiple submitters NF2-related schwannomatosis
c.599+14A>G Multiple submitters NF2-related schwannomatosis
c.599+7C>A Multiple submitters NF2-related schwannomatosis
c.600-14C>T Multiple submitters NF2-related schwannomatosis
c.600-8C>T Multiple submitters NF2-related schwannomatosis
c.676-12T>C Multiple submitters NF2-related schwannomatosis
c.676-4A>G Multiple submitters hereditary neoplastic syndrome
c.810+23_810+25del Multiple submitters hereditary neoplastic syndrome
c.811-14C>T Multiple submitters NF2-related schwannomatosis
c.811-15G>T Multiple submitters NF2-related schwannomatosis
c.886-20G>A Multiple submitters NF2-related schwannomatosis
c.*2311G>A Multiple submitters NF2-related schwannomatosis
p.Ala145= Multiple submitters hereditary neoplastic syndrome
p.Ala164= Multiple submitters hereditary neoplastic syndrome
p.Ala193= Multiple submitters hereditary neoplastic syndrome
p.Ala199= Multiple submitters NF2-related schwannomatosis
p.Ala2= Multiple submitters hereditary neoplastic syndrome
p.Ala31= Multiple submitters hereditary neoplastic syndrome
p.Ala313= Multiple submitters hereditary neoplastic syndrome
p.Ala385= Multiple submitters hereditary neoplastic syndrome
p.Ala399= Multiple submitters NF2-related schwannomatosis
p.Ala403= Multiple submitters hereditary neoplastic syndrome
p.Ala414= Multiple submitters NF2-related schwannomatosis
p.Ala416= Multiple submitters hereditary neoplastic syndrome
p.Ala433= Multiple submitters hereditary neoplastic syndrome
p.Ala441= Multiple submitters hereditary neoplastic syndrome
p.Ala451= Multiple submitters hereditary neoplastic syndrome
p.Ala468= Multiple submitters NF2-related schwannomatosis
p.Ala476= Multiple submitters NF2-related schwannomatosis
p.Ala548= Multiple submitters NF2-related schwannomatosis
p.Ala557= Multiple submitters NF2-related schwannomatosis
p.Ala73= Multiple submitters hereditary neoplastic syndrome
p.Ala98= Multiple submitters hereditary neoplastic syndrome
p.Arg16= Multiple submitters NF2-related schwannomatosis
p.Arg160= Multiple submitters NF2-related schwannomatosis
p.Arg196= Multiple submitters NF2-related schwannomatosis
p.Arg198= Multiple submitters NF2-related schwannomatosis
p.Arg262= Multiple submitters NF2-related schwannomatosis
p.Arg309= Multiple submitters NF2-related schwannomatosis
p.Arg310= Multiple submitters hereditary neoplastic syndrome
p.Arg326= Multiple submitters hereditary neoplastic syndrome
p.Arg336= Multiple submitters NF2-related schwannomatosis
p.Arg341= Multiple submitters NF2-related schwannomatosis
p.Arg346= Multiple submitters NF2-related schwannomatosis
p.Arg351= Multiple submitters hereditary neoplastic syndrome
p.Arg353= Multiple submitters NF2-related schwannomatosis
p.Arg359= Multiple submitters hereditary neoplastic syndrome
p.Arg447= Multiple submitters hereditary neoplastic syndrome
p.Arg516= Multiple submitters hereditary neoplastic syndrome
p.Arg554= Multiple submitters NF2-related schwannomatosis
p.Arg588= Multiple submitters hereditary neoplastic syndrome
p.Asn226= Multiple submitters hereditary neoplastic syndrome
p.Asn485= Multiple submitters NF2-related schwannomatosis
p.Asp245= Multiple submitters hereditary neoplastic syndrome
p.Asp268= Multiple submitters NF2-related schwannomatosis
p.Asp305= Multiple submitters hereditary neoplastic syndrome
p.Asp314= Multiple submitters hereditary neoplastic syndrome
p.Asp45= Multiple submitters hereditary neoplastic syndrome
p.Asp452= Multiple submitters hereditary neoplastic syndrome
p.Asp457= Multiple submitters NF2-related schwannomatosis
p.Asp494= Multiple submitters hereditary neoplastic syndrome
p.Asp508= Multiple submitters hereditary neoplastic syndrome
p.Asp511= Multiple submitters hereditary neoplastic syndrome
p.Gln165= Multiple submitters hereditary neoplastic syndrome
p.Gln18= Multiple submitters hereditary neoplastic syndrome
p.Gln344= Multiple submitters hereditary neoplastic syndrome
p.Gln456= Multiple submitters NF2-related schwannomatosis
p.Gln538= Multiple submitters hereditary neoplastic syndrome
p.Glu106= Multiple submitters hereditary neoplastic syndrome
p.Glu108= Multiple submitters NF2-related schwannomatosis
p.Glu112= Multiple submitters hereditary neoplastic syndrome
p.Glu166= Multiple submitters hereditary neoplastic syndrome
p.Glu167= Multiple submitters hereditary neoplastic syndrome
p.Glu182= Multiple submitters NF2-related schwannomatosis
p.Glu185= Multiple submitters NF2-related schwannomatosis
p.Glu231= Multiple submitters NF2-related schwannomatosis
p.Glu260= Multiple submitters hereditary neoplastic syndrome
p.Glu317= Multiple submitters NF2-related schwannomatosis
p.Glu335= Multiple submitters hereditary neoplastic syndrome
p.Glu34= Multiple submitters hereditary neoplastic syndrome
p.Glu342= Multiple submitters hereditary neoplastic syndrome
p.Glu355= Multiple submitters hereditary neoplastic syndrome
p.Glu372= Multiple submitters hereditary neoplastic syndrome
p.Glu378= Multiple submitters hereditary neoplastic syndrome
p.Glu393= Multiple submitters NF2-related schwannomatosis
p.Glu404= Multiple submitters hereditary neoplastic syndrome
p.Glu406= Multiple submitters hereditary neoplastic syndrome
p.Glu427= Multiple submitters NF2-related schwannomatosis
p.Glu434= Multiple submitters NF2-related schwannomatosis
p.Glu445= Multiple submitters hereditary neoplastic syndrome
p.Glu450= Multiple submitters hereditary neoplastic syndrome
p.Glu463= Multiple submitters hereditary neoplastic syndrome
p.Glu465= Multiple submitters NF2-related schwannomatosis
p.Glu522= Multiple submitters hereditary neoplastic syndrome
p.Glu555= Multiple submitters NF2-related schwannomatosis
p.Glu564= Multiple submitters NF2-related schwannomatosis
p.Glu593= Multiple submitters hereditary neoplastic syndrome
p.Gly151= Multiple submitters NF2-related schwannomatosis
p.Gly229= Multiple submitters hereditary neoplastic syndrome
p.Gly240= Multiple submitters NF2-related schwannomatosis
p.Gly3= Multiple submitters hereditary neoplastic syndrome
p.Gly302= Multiple submitters NF2-related schwannomatosis
p.Gly55= Multiple submitters NF2-related schwannomatosis
p.Gly569= Multiple submitters NF2-related schwannomatosis
p.His195= Multiple submitters NF2-related schwannomatosis
p.His242= Multiple submitters NF2-related schwannomatosis
p.His574= Multiple submitters hereditary neoplastic syndrome
p.Ile113= Multiple submitters NF2-related schwannomatosis
p.Ile224= Multiple submitters hereditary neoplastic syndrome
p.Ile254= Multiple submitters hereditary neoplastic syndrome
p.Ile26= Multiple submitters hereditary neoplastic syndrome
p.Ile280= Multiple submitters NF2-related schwannomatosis
p.Ile301= Multiple submitters NF2-related schwannomatosis
p.Ile475= Multiple submitters NF2-related schwannomatosis
p.Ile546= Multiple submitters NF2-related schwannomatosis
p.Ile577= Multiple submitters hereditary neoplastic syndrome
p.Leu117= Multiple submitters hereditary neoplastic syndrome
p.Leu14= Multiple submitters NF2-related schwannomatosis
p.Leu140= Multiple submitters hereditary neoplastic syndrome
p.Leu141= Multiple submitters hereditary neoplastic syndrome
p.Leu163= Multiple submitters hereditary neoplastic syndrome
p.Leu168= Multiple submitters hereditary neoplastic syndrome
p.Leu176= Multiple submitters hereditary neoplastic syndrome
p.Leu208= Multiple submitters hereditary neoplastic syndrome
p.Leu232= Multiple submitters hereditary neoplastic syndrome
p.Leu233= Multiple submitters hereditary neoplastic syndrome
p.Leu234= Multiple submitters NF2-related schwannomatosis
p.Leu276= Multiple submitters hereditary neoplastic syndrome
p.Leu297= Multiple submitters NF2-related schwannomatosis
p.Leu299= Multiple submitters NF2-related schwannomatosis
p.Leu316= Multiple submitters NF2-related schwannomatosis
p.Leu339= Multiple submitters NF2-related schwannomatosis
p.Leu360= Multiple submitters NF2-related schwannomatosis
p.Leu361= Multiple submitters hereditary neoplastic syndrome
p.Leu383= Multiple submitters hereditary neoplastic syndrome
p.Leu397= Multiple submitters hereditary neoplastic syndrome
p.Leu425= Multiple submitters hereditary neoplastic syndrome
p.Leu431= Multiple submitters hereditary neoplastic syndrome
p.Leu438= Multiple submitters hereditary neoplastic syndrome
p.Leu454= Multiple submitters hereditary neoplastic syndrome
p.Leu472= Multiple submitters NF2-related schwannomatosis
p.Leu473= Multiple submitters NF2-related schwannomatosis
p.Leu49= Multiple submitters NF2-related schwannomatosis
p.Leu491= Multiple submitters NF2-related schwannomatosis
p.Leu517= Multiple submitters hereditary neoplastic syndrome
p.Leu539= Multiple submitters hereditary neoplastic syndrome
p.Leu54= Multiple submitters hereditary neoplastic syndrome
p.Leu551= Multiple submitters hereditary neoplastic syndrome
p.Leu64= Multiple submitters hereditary neoplastic syndrome
p.Leu82= Multiple submitters hereditary neoplastic syndrome
p.Leu97= Multiple submitters hereditary neoplastic syndrome
p.Lys123= Multiple submitters hereditary neoplastic syndrome
p.Lys253= Multiple submitters hereditary neoplastic syndrome
p.Lys269= Multiple submitters NF2-related schwannomatosis
p.Lys284= Multiple submitters NF2-related schwannomatosis
p.Lys289= Multiple submitters hereditary neoplastic syndrome
p.Lys294= Multiple submitters hereditary neoplastic syndrome
p.Lys322= Multiple submitters hereditary neoplastic syndrome
p.Lys343= Multiple submitters NF2-related schwannomatosis
p.Lys364= Multiple submitters hereditary neoplastic syndrome
p.Lys42= Multiple submitters hereditary neoplastic syndrome
p.Lys423= Multiple submitters NF2-related schwannomatosis
p.Lys439= Multiple submitters NF2-related schwannomatosis
p.Lys44= Multiple submitters hereditary neoplastic syndrome
p.Lys471= Multiple submitters hereditary neoplastic syndrome
p.Lys523= Multiple submitters NF2-related schwannomatosis
p.Lys533= Multiple submitters hereditary neoplastic syndrome
p.Lys552= Multiple submitters hereditary neoplastic syndrome
p.Lys578= Multiple submitters hereditary neoplastic syndrome
p.Phe118= Multiple submitters hereditary neoplastic syndrome
p.Phe119= Multiple submitters hereditary neoplastic syndrome
p.Phe256= Multiple submitters hereditary neoplastic syndrome
p.Phe271= Multiple submitters NF2-related schwannomatosis
p.Phe285= Multiple submitters NF2-related schwannomatosis
p.Phe35= Multiple submitters NF2-related schwannomatosis
p.Phe509= Multiple submitters hereditary neoplastic syndrome
p.Phe592= Multiple submitters hereditary neoplastic syndrome
p.Phe61= Multiple submitters hereditary neoplastic syndrome
p.Phe62= Multiple submitters hereditary neoplastic syndrome
p.Phe96= Multiple submitters hereditary neoplastic syndrome
p.Pro134= Multiple submitters NF2-related schwannomatosis
p.Pro181= Multiple submitters hereditary neoplastic syndrome
p.Pro19= Multiple submitters NF2-related schwannomatosis
p.Pro246= Multiple submitters NF2-related schwannomatosis
p.Pro483= Multiple submitters NF2-related schwannomatosis
p.Pro490= Multiple submitters hereditary neoplastic syndrome
p.Pro496= Multiple submitters hereditary neoplastic syndrome
p.Pro91= Multiple submitters hereditary neoplastic syndrome
p.Ser156= Multiple submitters hereditary neoplastic syndrome
p.Ser265= Multiple submitters NF2-related schwannomatosis
p.Ser377= Multiple submitters NF2-related schwannomatosis
p.Ser506= Multiple submitters NF2-related schwannomatosis
p.Ser566= Multiple submitters hereditary neoplastic syndrome
p.Ser7= Multiple submitters NF2-related schwannomatosis
p.Ser87= Multiple submitters hereditary neoplastic syndrome
p.Thr21= Multiple submitters hereditary neoplastic syndrome
p.Thr251= Multiple submitters hereditary neoplastic syndrome
p.Thr28= Multiple submitters hereditary neoplastic syndrome
p.Thr352= Multiple submitters hereditary neoplastic syndrome
p.Thr380= Multiple submitters NF2-related schwannomatosis
p.Thr415= Multiple submitters hereditary neoplastic syndrome
p.Thr419= Multiple submitters NF2-related schwannomatosis
p.Thr477= Multiple submitters hereditary neoplastic syndrome
p.Thr480= Multiple submitters hereditary neoplastic syndrome
p.Thr581= Multiple submitters NF2-related schwannomatosis
p.Thr59= Multiple submitters NF2-related schwannomatosis
p.Thr67= Multiple submitters NF2-related schwannomatosis
p.Thr71= Multiple submitters NF2-related schwannomatosis
p.Tyr132= Multiple submitters hereditary neoplastic syndrome
p.Tyr144= Multiple submitters hereditary neoplastic syndrome
p.Tyr150= Multiple submitters hereditary neoplastic syndrome
p.Tyr153= Multiple submitters hereditary neoplastic syndrome
p.Tyr192= Multiple submitters hereditary neoplastic syndrome
p.Tyr217= Multiple submitters hereditary neoplastic syndrome
p.Tyr266= Multiple submitters hereditary neoplastic syndrome
p.Tyr481= Multiple submitters hereditary neoplastic syndrome
p.Tyr528= Multiple submitters hereditary neoplastic syndrome
p.Val139= Multiple submitters hereditary neoplastic syndrome
p.Val24= Multiple submitters hereditary neoplastic syndrome
p.Val27= Multiple submitters hereditary neoplastic syndrome
p.Val72= Multiple submitters hereditary neoplastic syndrome
p.Val81= Multiple submitters hereditary neoplastic syndrome
p.Val92= Multiple submitters NF2-related schwannomatosis
c.1000-10C>T Single submitter NF2-related schwannomatosis
c.1000-11A>G Single submitter NF2-related schwannomatosis
c.1000-16T>A Single submitter NF2-related schwannomatosis
c.1000-17T>C Single submitter NF2-related schwannomatosis
c.1000-7C>A Single submitter NF2-related schwannomatosis
c.1000-7C>T Single submitter NF2-related schwannomatosis
c.1000-9C>T Single submitter NF2-related schwannomatosis
c.1122+10G>A Single submitter NF2-related schwannomatosis
c.1122+15G>A Single submitter NF2-related schwannomatosis
c.1122+15G>C Single submitter NF2-related schwannomatosis
c.1122+16del Single submitter NF2-related schwannomatosis
c.1122+17T>C Single submitter NF2-related schwannomatosis
c.1122+17T>G Single submitter NF2-related schwannomatosis
c.1123-11G>A Single submitter NF2-related schwannomatosis
c.1123-13C>T Single submitter NF2-related schwannomatosis
c.1123-17A>G Single submitter NF2-related schwannomatosis
c.1123-18G>C Single submitter NF2-related schwannomatosis
c.1123-19del Single submitter NF2-related schwannomatosis
c.1123-4C>G Single submitter hereditary neoplastic syndrome
c.1123-6C>G Single submitter NF2-related schwannomatosis
c.1123-7C>G Single submitter NF2-related schwannomatosis
c.1123-7C>T Single submitter NF2-related schwannomatosis
c.1123-9G>A Single submitter NF2-related schwannomatosis
c.114+10C>A Single submitter NF2-related schwannomatosis
c.114+10C>G Single submitter NF2-related schwannomatosis
c.114+10C>T Single submitter NF2-related schwannomatosis
c.114+11G>A Single submitter NF2-related schwannomatosis
c.114+11G>C Single submitter NF2-related schwannomatosis
c.114+15G>T Single submitter NF2-related schwannomatosis
c.114+17C>A Single submitter NF2-related schwannomatosis
c.114+17C>T Single submitter NF2-related schwannomatosis
c.114+18C>G Single submitter NF2-related schwannomatosis
c.114+19C>G Single submitter NF2-related schwannomatosis
c.114+19C>T Single submitter NF2-related schwannomatosis
c.114+20G>A Single submitter NF2-related schwannomatosis
c.114+6dup Single submitter NF2-related schwannomatosis
c.114+7G>A Single submitter NF2-related schwannomatosis
c.114+7G>T Single submitter NF2-related schwannomatosis
c.114+8G>A Single submitter NF2-related schwannomatosis
c.115-10G>A Single submitter NF2-related schwannomatosis
c.115-16T>C Single submitter NF2-related schwannomatosis
c.115-17T>C Single submitter NF2-related schwannomatosis
c.115-18A>G Single submitter NF2-related schwannomatosis
c.115-20C>A Single submitter NF2-related schwannomatosis
c.115-20C>G Single submitter NF2-related schwannomatosis
c.115-4G>C Single submitter NF2-related schwannomatosis
c.115-6T>C Single submitter NF2-related schwannomatosis
c.115-7A>T Single submitter NF2-related schwannomatosis

Uncertain significance 1184

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

c.1000-2A>T Multiple submitters NF2-related schwannomatosis
c.114+4A>G Multiple submitters familial meningioma
c.115-3C>T Multiple submitters hereditary neoplastic syndrome
c.1340+5G>A Multiple submitters hereditary neoplastic syndrome
c.1340+5G>C Multiple submitters NF2-related schwannomatosis
c.1447-4A>G Multiple submitters hereditary neoplastic syndrome
c.1574+4T>G Multiple submitters NF2-related schwannomatosis
c.1738-3C>A Multiple submitters hereditary neoplastic syndrome
c.1738-3C>G Multiple submitters NF2-related schwannomatosis
c.240+6G>C Multiple submitters NF2-related schwannomatosis
c.241-3C>T Multiple submitters hereditary neoplastic syndrome
c.363+3A>G Multiple submitters hereditary neoplastic syndrome
c.363+5A>G Multiple submitters hereditary neoplastic syndrome
c.447+3A>G Multiple submitters hereditary neoplastic syndrome
c.517-5G>A Multiple submitters hereditary neoplastic syndrome
c.999+5G>A Multiple submitters NF2-related schwannomatosis
c.-5G>T Multiple submitters NF2-related schwannomatosis
p.Ala145Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala193Thr Multiple submitters hereditary neoplastic syndrome
p.Ala193Val Multiple submitters NF2-related schwannomatosis ⚠
p.Ala199Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala203Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala223Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2Ser Multiple submitters SMARCB1-related schwannomatosis ⚠
p.Ala325Val Multiple submitters NF2-related schwannomatosis ⚠
p.Ala367Thr Multiple submitters NF2-related schwannomatosis ⚠
p.Ala373Thr Multiple submitters NF2-related schwannomatosis ⚠
p.Ala388Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala399Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala403Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala414Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala416Gly Multiple submitters NF2-related schwannomatosis
p.Ala416Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala433Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala441Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala441Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala448Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala448Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala448Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala464Glu Multiple submitters hereditary neoplastic syndrome
p.Ala489Val Multiple submitters NF2-related schwannomatosis ⚠
p.Ala4Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala548Val Multiple submitters hereditary neoplastic syndrome
p.Ala557Thr Multiple submitters NF2-related schwannomatosis ⚠
p.Ala585Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala590Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala98Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala98Val Multiple submitters hereditary neoplastic syndrome
p.Arg160Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg172= Multiple submitters NF2-related schwannomatosis
p.Arg172Lys Multiple submitters NF2-related schwannomatosis ⚠
p.Arg172Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg187Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg196Gln Multiple submitters NF2-related schwannomatosis ⚠
p.Arg196Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg198Gln Multiple submitters hereditary neoplastic syndrome
p.Arg200Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Arg200Lys Multiple submitters NF2-related schwannomatosis
p.Arg225Gln Multiple submitters familial meningioma ⚠
p.Arg225Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg25Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg25Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg262Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg291Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg326Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Arg331Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg336Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg338Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg338Leu Multiple submitters hereditary neoplastic syndrome
p.Arg341Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg341Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Arg341Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg346Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg346Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg351Leu Multiple submitters NF2-related schwannomatosis
p.Arg353Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg353Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg359Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg359Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg376Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg376Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg411Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Arg418Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Arg424Cys Multiple submitters NF2-related schwannomatosis ⚠
p.Arg424Gly Multiple submitters NF2-related schwannomatosis
p.Arg424Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg424Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg446Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Arg447Met Multiple submitters NF2-related schwannomatosis ⚠
p.Arg447Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg462Cys Multiple submitters NF2-related schwannomatosis
p.Arg466Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg466Leu Multiple submitters NF2-related schwannomatosis ⚠
p.Arg467Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg467Lys Multiple submitters familial meningioma ⚠
p.Arg516Trp Multiple submitters NF2-related schwannomatosis ⚠
p.Arg52Gln Multiple submitters NF2-related schwannomatosis ⚠
p.Arg52Trp Multiple submitters NF2-related schwannomatosis ⚠
p.Arg554Gly Multiple submitters hereditary neoplastic syndrome
p.Arg554Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg554Thr Multiple submitters NF2-related schwannomatosis ⚠
p.Arg568Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg8Asn Multiple submitters NF2-related schwannomatosis
p.Arg8His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg8Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn226His Multiple submitters NF2-related schwannomatosis ⚠
p.Asn263Ser Multiple submitters NF2-related schwannomatosis ⚠
p.Asn293Ser Multiple submitters NF2-related schwannomatosis ⚠
p.Asn36Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn36Ile Multiple submitters NF2-related schwannomatosis ⚠
p.Asn371Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn485Tyr Multiple submitters NF2-related schwannomatosis ⚠
p.Asn499Ser Multiple submitters NF2-related schwannomatosis ⚠
p.Asn540Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn563Asp Multiple submitters NF2-related schwannomatosis ⚠
p.Asn563Lys Multiple submitters NF2-related schwannomatosis ⚠
p.Asn565Tyr Multiple submitters NF2-related schwannomatosis ⚠
p.Asp128Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Asp154Asn Multiple submitters hereditary neoplastic syndrome
p.Asp154Glu Multiple submitters NF2-related schwannomatosis
p.Asp154His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp201Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp201Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Asp201Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp201Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp245Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp245Gly Multiple submitters NF2-related schwannomatosis
p.Asp277Glu Multiple submitters NF2-related schwannomatosis ⚠
p.Asp281Val Multiple submitters hereditary neoplastic syndrome
p.Asp30Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp30Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp314Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp354Ala Multiple submitters hereditary neoplastic syndrome
p.Asp354Asn Multiple submitters NF2-related schwannomatosis ⚠
p.Asp452Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp452Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp457Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp45Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp45Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp48Asn Multiple submitters NF2-related schwannomatosis ⚠
p.Asp494Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp503Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp508His Multiple submitters NF2-related schwannomatosis ⚠
p.Asp511Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Asp511Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp559Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Asp559His Multiple submitters NF2-related schwannomatosis ⚠
p.Asp559Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp70His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp83His Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys51Ser Multiple submitters NF2-related schwannomatosis ⚠
p.Gln111Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln115Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln115del Multiple submitters NF2-related schwannomatosis
p.Gln115Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln115Lys Multiple submitters NF2-related schwannomatosis ⚠
p.Gln121Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln121Glu Multiple submitters NF2-related schwannomatosis ⚠
p.Gln125His Multiple submitters hereditary neoplastic syndrome
p.Gln18Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln324Glu Multiple submitters NF2-related schwannomatosis ⚠
p.Gln333His Multiple submitters hereditary neoplastic syndrome
p.Gln344Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln407Arg Multiple submitters NF2-related schwannomatosis ⚠
p.Gln410Arg Multiple submitters NF2-related schwannomatosis ⚠
p.Gln453Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln456Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu106Asp Multiple submitters NF2-related schwannomatosis ⚠
p.Glu107Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu166Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu167Ala Multiple submitters NF2-related schwannomatosis ⚠
p.Glu167Gln Multiple submitters NF2-related schwannomatosis
p.Glu182Gly Multiple submitters NF2-related schwannomatosis
p.Glu186Asp Multiple submitters familial meningioma ⚠
p.Glu194Asp Multiple submitters NF2-related schwannomatosis ⚠
p.Glu204Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu231Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu32Lys Multiple submitters NF2-related schwannomatosis
p.Glu342Ala Multiple submitters NF2-related schwannomatosis ⚠
p.Glu342Gln Multiple submitters NF2-related schwannomatosis ⚠
p.Glu355Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu355Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu366Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu372Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu38= Multiple submitters NF2-related schwannomatosis
p.Glu392Lys Multiple submitters NF2-related schwannomatosis ⚠
p.Glu421Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu422del Multiple submitters hereditary neoplastic syndrome
p.Glu422Lys Multiple submitters NF2-related schwannomatosis ⚠
p.Glu427Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu434Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Glu443Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu460Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Glu474Asp Multiple submitters NF2-related schwannomatosis ⚠
p.Glu520Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu527Val Multiple submitters NF2-related schwannomatosis ⚠
p.Glu530Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Glu537Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu537Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu537Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu545Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu553Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu553Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Glu564Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Glu564Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu58Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu90Gly Multiple submitters NF2-related schwannomatosis ⚠
p.Gly197Val Multiple submitters NF2-related schwannomatosis ⚠
p.Gly218Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly3Arg Multiple submitters familial meningioma ⚠
p.Gly502Cys Multiple submitters NF2-related schwannomatosis ⚠
p.Gly502Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly569Asp Multiple submitters familial meningioma ⚠
p.Gly569Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly570Ser Multiple submitters NF2-related schwannomatosis ⚠
p.His158Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His242Gln Multiple submitters NF2-related schwannomatosis ⚠
p.His534Arg Multiple submitters hereditary neoplastic syndrome
p.His534Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His562Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His562Asn Multiple submitters NF2-related schwannomatosis ⚠
p.His562Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.His574Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His574Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.His574Pro Multiple submitters NF2-related schwannomatosis ⚠
p.His574Tyr Multiple submitters NF2-related schwannomatosis ⚠
p.His84Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His84Tyr Multiple submitters hereditary neoplastic syndrome
p.Ile126Val Multiple submitters familial meningioma ⚠
p.Ile131Leu Multiple submitters familial meningioma
p.Ile131Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile174Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile210Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile224Met Multiple submitters NF2-related schwannomatosis ⚠
p.Ile224Val Multiple submitters hereditary neoplastic syndrome
p.Ile243Val Multiple submitters NF2-related schwannomatosis ⚠
p.Ile26Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile26Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile273Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile296Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile475Val Multiple submitters NF2-related schwannomatosis ⚠
p.Ile487Leu Multiple submitters NF2-related schwannomatosis ⚠
p.Ile487Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile487Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile495Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile521Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile521Thr Multiple submitters NF2-related schwannomatosis ⚠
p.Ile560Phe Multiple submitters NF2-related schwannomatosis ⚠
p.Ile560Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile5Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile5Val Multiple submitters NF2-related schwannomatosis ⚠
p.Ile68Val Multiple submitters familial meningioma ⚠
p.Leu109Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu117Val Multiple submitters NF2-related schwannomatosis ⚠
p.Leu120Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu250Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu295= Multiple submitters NF2-related schwannomatosis
p.Leu299Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu306Val Multiple submitters familial meningioma ⚠
p.Leu339Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu397Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu458Arg Multiple submitters NF2-related schwannomatosis ⚠
p.Leu473Met Multiple submitters NF2-related schwannomatosis ⚠
p.Leu500Phe Multiple submitters NF2-related schwannomatosis ⚠
p.Leu535Val Multiple submitters hereditary neoplastic syndrome
p.Leu539Phe Multiple submitters NF2-related schwannomatosis ⚠
p.Leu539Val Multiple submitters familial meningioma ⚠
p.Leu549Phe Multiple submitters NF2-related schwannomatosis ⚠
p.Leu54Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu551fs Multiple submitters NF2-related schwannomatosis
p.Leu558Val Multiple submitters NF2-related schwannomatosis ⚠
p.Leu595Phe Multiple submitters NF2-related schwannomatosis ⚠
p.Leu75Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu82Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu97Phe Multiple submitters NF2-related schwannomatosis ⚠
p.Lys123Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys124Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys130Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys159Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys159Leu Multiple submitters familial meningioma
p.Lys15Arg Multiple submitters NF2-related schwannomatosis ⚠
p.Lys15Gln Multiple submitters NF2-related schwannomatosis ⚠
p.Lys15Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys171Glu Multiple submitters NF2-related schwannomatosis ⚠
p.Lys17Arg Multiple submitters NF2-related schwannomatosis ⚠
p.Lys17Gln Multiple submitters NF2-related schwannomatosis ⚠
p.Lys20Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys253Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys253Asn Multiple submitters NF2-related schwannomatosis ⚠
p.Lys253Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys274Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys279Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys284Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys289Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys294Gln Multiple submitters NF2-related schwannomatosis ⚠
p.Lys364Asn Multiple submitters NF2-related schwannomatosis ⚠
p.Lys401Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys413Glu Multiple submitters familial meningioma ⚠
p.Lys423Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys455Arg Multiple submitters hereditary neoplastic syndrome ⚠