SMARCE1 — 1139 ClinVar variants

Pathogenic 45

• c.237+1G>T Multiple submitters Coffin-Siris syndrome 5
• p.Arg158Ter Multiple submitters hereditary neoplastic syndrome
• p.Arg239Ter Multiple submitters SMARCE1-related disorder
• p.Gln225Ter Multiple submitters hereditary neoplastic syndrome
• p.Glu110Ter Multiple submitters familial meningioma
• p.Glu165Ter Multiple submitters hereditary neoplastic syndrome
• p.Leu93fs Multiple submitters familial meningioma
• p.Ser208fs Multiple submitters SMARCE1-related disorder
• c.816+1G>T Single submitter hereditary neoplastic syndrome
• p.Ala138fs Single submitter hereditary neoplastic syndrome
• p.Ala152fs Single submitter familial meningioma
• p.Ala176fs Single submitter familial meningioma
• p.Arg105Ter Single submitter familial meningioma
• p.Arg201fs Single submitter hereditary neoplastic syndrome
• p.Arg272fs Single submitter familial meningioma
• p.Gln230Ter Single submitter familial meningioma
• p.Gln232Ter Single submitter familial meningioma
• p.Gln253Ter Single submitter familial meningioma
• p.Gln291Ter Single submitter familial meningioma
• p.Gln83fs Single submitter hereditary neoplastic syndrome
• p.Glu114Ter Single submitter familial meningioma
• p.Glu120Lys Single submitter
• p.Glu125fs Single submitter familial meningioma
• p.Glu165fs Single submitter hereditary neoplastic syndrome
• p.Glu250fs Single submitter hereditary neoplastic syndrome
• p.Glu261Ter Single submitter hereditary neoplastic syndrome
• p.Glu323Ter Single submitter familial meningioma
• p.Leu234fs Single submitter familial meningioma
• p.Leu260fs Single submitter hereditary neoplastic syndrome
• p.Leu41fs Single submitter familial meningioma
• p.Lys112fs Single submitter hereditary neoplastic syndrome
• p.Lys123_Ile124insTer Single submitter hereditary neoplastic syndrome
• p.Lys146Glu Single submitter
• p.Phe259fs Single submitter hereditary neoplastic syndrome
• p.Pro169fs Single submitter familial meningioma
• p.Pro69Leu Single submitter
• p.Ser147fs Single submitter hereditary neoplastic syndrome
• p.Ser157fs Single submitter familial meningioma
• p.Trp104Arg Single submitter facial cleft
• p.Trp94Ter Single submitter familial meningioma
• p.Tyr126Asp Single submitter familial meningioma
• p.Tyr139Ter Single submitter hereditary neoplastic syndrome
• p.Tyr31_Ser32delinsTer Single submitter familial meningioma
• p.Val212fs Single submitter hereditary neoplastic syndrome
• p.Tyr73Ser No assertion criteria Coffin-Siris syndrome 5

Pathogenic/Likely pathogenic 4

• p.Arg105Gln Multiple submitters Coffin-Siris syndrome 5
• p.Arg251Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly185fs Multiple submitters hereditary neoplastic syndrome
• p.Tyr31fs Multiple submitters familial meningioma

Likely pathogenic 27

• c.369+2_369+5del Multiple submitters familial meningioma
• p.Lys92Asn Multiple submitters Coffin-Siris syndrome 5
• c.156+2T>C Single submitter familial meningioma
• c.157-6_157-5delinsAA Single submitter
• c.238-2A>G Single submitter hereditary neoplastic syndrome
• c.369+1G>A Single submitter familial meningioma
• c.369+1G>T Single submitter familial meningioma
• c.541+2T>C Single submitter familial meningioma
• c.542-2A>G Single submitter familial meningioma
• c.714+1G>A Single submitter familial meningioma
• c.816+1del Single submitter hereditary neoplastic syndrome
• c.817-1G>A Single submitter hereditary neoplastic syndrome
• c.817-2A>G Single submitter familial meningioma
• c.9_12del Single submitter familial meningioma
• p.Ala308fs Single submitter hereditary neoplastic syndrome
• p.Glu95Asp Single submitter Coffin-Siris syndrome 5
• p.Gly101Ser Single submitter familial meningioma
• p.Ile57fs Single submitter familial meningioma
• p.Lys228fs Single submitter familial meningioma
• p.Lys258fs Single submitter familial meningioma
• p.Lys92Gln Single submitter
• p.Phe196fs Single submitter familial meningioma
• p.Pro320fs Single submitter hereditary neoplastic syndrome
• p.Trp104Ser Single submitter
• p.Trp94Arg Single submitter
• p.Tyr73Cys Single submitter familial meningioma
• p.Tyr76Cys Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 106

• c.157-5C>T Single submitter familial meningioma
• c.238-12T>C Single submitter familial meningioma
• c.369+4G>C Single submitter hereditary neoplastic syndrome
• c.370-10T>C Single submitter familial meningioma
• c.541+1G>A Single submitter hereditary neoplastic syndrome ⚠
• p.Ala138Thr Single submitter Coffin-Siris syndrome 5 ⚠
• p.Ala138Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala287Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala290Thr Single submitter familial meningioma ⚠
• p.Ala290Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala296Gly Single submitter familial meningioma ⚠
• p.Ala308Thr Single submitter Coffin-Siris syndrome 5 ⚠
• p.Ala311Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala378Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala394Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Arg163His Single submitter familial meningioma ⚠
• p.Arg297Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg297Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg313Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg313His Single submitter hereditary neoplastic syndrome ⚠
• p.Asn337Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn337Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Asn356Ser Single submitter Coffin-Siris syndrome 5 ⚠
• p.Asn37Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Asn38Ser Single submitter familial meningioma ⚠
• p.Asn44Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Asp334Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp335Asn Single submitter familial meningioma ⚠
• p.Asp375Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp407Asn Single submitter familial meningioma ⚠
• p.Cys274Tyr Single submitter hereditary neoplastic syndrome ⚠
• p.Gln232= Single submitter familial meningioma
• p.Gln247His Single submitter familial meningioma ⚠
• p.Gln291Arg Single submitter familial meningioma ⚠
• p.Gln315Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln315Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Glu283Gln Single submitter hereditary neoplastic syndrome
• p.Glu301Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu302Asp Single submitter familial meningioma ⚠
• p.Glu321Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu321Val Single submitter hereditary neoplastic syndrome ⚠
• p.Glu323Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu330Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu336Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu336Lys Single submitter Coffin-Siris syndrome 5 ⚠
• p.Glu348Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Glu352Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Glu359del Single submitter SMARCE1-related disorder
• p.Glu365Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu372Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Glu390Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Glu411= Single submitter hereditary neoplastic syndrome
• p.Glu411Lys Single submitter familial meningioma ⚠
• p.Gly275Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Gly357Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Gly360Arg Single submitter familial meningioma ⚠
• p.Gly370Glu Single submitter familial meningioma ⚠
• p.His346Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Ile143Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile173Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile248Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Ile285Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ile404Met Single submitter hereditary neoplastic syndrome ⚠
• p.Ile404Val Single submitter Coffin-Siris syndrome 5 ⚠
• p.Leu347Val Single submitter familial meningioma ⚠
• p.Lys123= Single submitter hereditary neoplastic syndrome
• p.Lys256Arg Single submitter familial meningioma
• p.Lys298Arg Single submitter familial meningioma ⚠
• p.Lys305Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Lys305Glu Single submitter familial meningioma ⚠
• p.Lys332Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Lys409Arg Single submitter familial meningioma ⚠
• p.Met171Val Single submitter hereditary neoplastic syndrome ⚠
• p.Met188Val Single submitter familial meningioma ⚠
• p.Met19Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met340Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Met340Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Met377Val Single submitter familial meningioma ⚠
• p.Pro169Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro320Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro339Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro399Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Pro399Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Pro400Ser Single submitter familial meningioma ⚠
• p.Pro405Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Pro9Leu Single submitter familial meningioma ⚠
• p.Ser172Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser21= Single submitter Coffin-Siris syndrome 5
• p.Ser262Gly Single submitter familial meningioma ⚠
• p.Ser316Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser362Pro Single submitter familial meningioma ⚠
• p.Ser383Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Ser383Gly Single submitter familial meningioma ⚠
• p.Thr193Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr345Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Thr351Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Thr361Met Single submitter familial meningioma ⚠
• p.Thr363Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Thr401Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Tyr28His Single submitter hereditary neoplastic syndrome ⚠
• p.Val215Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Val319Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Val319Ile Single submitter Coffin-Siris syndrome 5 ⚠
• p.Val374Ala Single submitter familial meningioma ⚠
• p.Val396Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Val396Met Single submitter hereditary neoplastic syndrome ⚠

Benign 16

• c.1028-176A>G Multiple submitters
• c.238-218C>T Multiple submitters
• c.541+80A>T Multiple submitters
• c.714+99G>A Multiple submitters
• c.715-208A>G Multiple submitters
• c.*110C>T Multiple submitters
• c.156+279_156+280del Single submitter
• c.237+188G>A Single submitter
• c.238-4dup Single submitter familial meningioma
• c.51+241dup Single submitter
• c.541+14del Single submitter familial meningioma
• c.541+14dup Single submitter familial meningioma
• c.816+173C>G Single submitter
• c.817-15dup Single submitter familial meningioma
• c.817-9del Single submitter familial meningioma
• c.-45-7A>T Single submitter

Benign/Likely benign 13

• c.1028-18A>G Multiple submitters familial meningioma
• c.369+10G>C Multiple submitters familial meningioma
• c.369+12G>T Multiple submitters familial meningioma
• p.Asn117= Multiple submitters hereditary neoplastic syndrome
• p.Glu321= Multiple submitters familial meningioma
• p.Glu411Ter Multiple submitters hereditary neoplastic syndrome
• p.Gly360Asp Multiple submitters hereditary neoplastic syndrome
• p.Lys298= Multiple submitters familial meningioma
• p.Lys367= Multiple submitters hereditary neoplastic syndrome
• p.Pro175= Multiple submitters familial meningioma
• p.Ser389= Multiple submitters hereditary neoplastic syndrome
• p.Thr193= Multiple submitters familial meningioma
• p.Thr363= Multiple submitters familial meningioma

Likely benign 395

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

• c.1027+20C>T Multiple submitters familial meningioma
• c.156+15T>C Multiple submitters familial meningioma
• c.156+191A>G Multiple submitters
• c.157-4G>A Multiple submitters hereditary neoplastic syndrome
• c.157-6T>C Multiple submitters familial meningioma
• c.237+30G>A Multiple submitters
• c.370-13A>G Multiple submitters familial meningioma
• c.541+11A>G Multiple submitters familial meningioma
• c.541+253C>T Multiple submitters
• c.541+309A>G Multiple submitters
• c.541+8A>G Multiple submitters familial meningioma
• c.542-11G>A Multiple submitters familial meningioma
• c.715-4G>A Multiple submitters hereditary neoplastic syndrome
• p.Ala132= Multiple submitters hereditary neoplastic syndrome
• p.Ala138= Multiple submitters hereditary neoplastic syndrome
• p.Ala194= Multiple submitters hereditary neoplastic syndrome
• p.Ala243= Multiple submitters hereditary neoplastic syndrome
• p.Ala287= Multiple submitters hereditary neoplastic syndrome
• p.Ala296= Multiple submitters hereditary neoplastic syndrome
• p.Ala307= Multiple submitters familial meningioma
• p.Ala311= Multiple submitters familial meningioma
• p.Ala325= Multiple submitters hereditary neoplastic syndrome
• p.Ala394= Multiple submitters familial meningioma
• p.Ala53= Multiple submitters familial meningioma
• p.Arg198= Multiple submitters hereditary neoplastic syndrome
• p.Arg229= Multiple submitters hereditary neoplastic syndrome
• p.Arg297= Multiple submitters hereditary neoplastic syndrome
• p.Arg303= Multiple submitters hereditary neoplastic syndrome
• p.Arg50= Multiple submitters hereditary neoplastic syndrome
• p.Arg75= Multiple submitters hereditary neoplastic syndrome
• p.Asn127= Multiple submitters hereditary neoplastic syndrome
• p.Asn135= Multiple submitters familial meningioma
• p.Asn199= Multiple submitters hereditary neoplastic syndrome
• p.Asn268= Multiple submitters hereditary neoplastic syndrome
• p.Asn356= Multiple submitters hereditary neoplastic syndrome
• p.Asn386= Multiple submitters hereditary neoplastic syndrome
• p.Asn44= Multiple submitters hereditary neoplastic syndrome
• p.Asn88= Multiple submitters hereditary neoplastic syndrome
• p.Asp178= Multiple submitters hereditary neoplastic syndrome
• p.Asp183= Multiple submitters familial meningioma
• p.Asp184= Multiple submitters familial meningioma
• p.Asp214= Multiple submitters familial meningioma
• p.Asp281= Multiple submitters hereditary neoplastic syndrome
• p.Asp334= Multiple submitters familial meningioma
• p.Asp335= Multiple submitters hereditary neoplastic syndrome
• p.Asp375= Multiple submitters hereditary neoplastic syndrome
• p.Asp384= Multiple submitters hereditary neoplastic syndrome
• p.Cys274= Multiple submitters hereditary neoplastic syndrome
• p.Gln159= Multiple submitters hereditary neoplastic syndrome
• p.Gln161= Multiple submitters hereditary neoplastic syndrome
• p.Gln174= Multiple submitters hereditary neoplastic syndrome
• p.Gln247= Multiple submitters hereditary neoplastic syndrome
• p.Gln315= Multiple submitters familial meningioma
• p.Gln354= Multiple submitters familial meningioma
• p.Gln355= Multiple submitters familial meningioma
• p.Gln83= Multiple submitters hereditary neoplastic syndrome
• p.Glu111= Multiple submitters hereditary neoplastic syndrome
• p.Glu114= Multiple submitters hereditary neoplastic syndrome
• p.Glu122= Multiple submitters hereditary neoplastic syndrome
• p.Glu128= Multiple submitters hereditary neoplastic syndrome
• p.Glu154= Multiple submitters hereditary neoplastic syndrome
• p.Glu155= Multiple submitters hereditary neoplastic syndrome
• p.Glu165= Multiple submitters hereditary neoplastic syndrome
• p.Glu177= Multiple submitters hereditary neoplastic syndrome
• p.Glu242= Multiple submitters hereditary neoplastic syndrome
• p.Glu250= Multiple submitters hereditary neoplastic syndrome
• p.Glu254= Multiple submitters hereditary neoplastic syndrome
• p.Glu304= Multiple submitters hereditary neoplastic syndrome
• p.Glu330= Multiple submitters familial meningioma
• p.Glu358= Multiple submitters familial meningioma
• p.Glu365= Multiple submitters familial meningioma
• p.Glu397= Multiple submitters hereditary neoplastic syndrome
• p.Glu95= Multiple submitters hereditary neoplastic syndrome
• p.Gly167= Multiple submitters hereditary neoplastic syndrome
• p.Gly185= Multiple submitters hereditary neoplastic syndrome
• p.Gly360= Multiple submitters hereditary neoplastic syndrome
• p.Gly370= Multiple submitters familial meningioma
• p.Gly388= Multiple submitters familial meningioma
• p.Gly46= Multiple submitters hereditary neoplastic syndrome
• p.Gly56= Multiple submitters hereditary neoplastic syndrome
• p.His190= Multiple submitters hereditary neoplastic syndrome
• p.His200= Multiple submitters hereditary neoplastic syndrome
• p.His252= Multiple submitters familial meningioma
• p.Ile100= Multiple submitters hereditary neoplastic syndrome
• p.Ile285= Multiple submitters familial meningioma
• p.Ile289= Multiple submitters hereditary neoplastic syndrome
• p.Leu116= Multiple submitters hereditary neoplastic syndrome
• p.Leu202= Multiple submitters hereditary neoplastic syndrome
• p.Leu207= Multiple submitters familial meningioma
• p.Leu241= Multiple submitters familial meningioma
• p.Leu273= Multiple submitters familial meningioma
• p.Leu34= Multiple submitters familial meningioma
• p.Leu347= Multiple submitters familial meningioma
• p.Leu91= Multiple submitters hereditary neoplastic syndrome
• p.Lys255= Multiple submitters familial meningioma
• p.Lys258= Multiple submitters hereditary neoplastic syndrome
• p.Lys277= Multiple submitters familial meningioma
• p.Lys333= Multiple submitters hereditary neoplastic syndrome
• p.Lys409= Multiple submitters familial meningioma
• p.Lys68= Multiple submitters hereditary neoplastic syndrome
• p.Pro137= Multiple submitters familial meningioma
• p.Pro169= Multiple submitters familial meningioma
• p.Pro23= Multiple submitters familial meningioma
• p.Pro30= Multiple submitters hereditary neoplastic syndrome
• p.Pro403= Multiple submitters familial meningioma
• p.Pro45= Multiple submitters hereditary neoplastic syndrome
• p.Pro69= Multiple submitters hereditary neoplastic syndrome
• p.Pro89= Multiple submitters hereditary neoplastic syndrome
• p.Ser172= Multiple submitters hereditary neoplastic syndrome
• p.Ser187= Multiple submitters hereditary neoplastic syndrome
• p.Ser208= Multiple submitters familial meningioma
• p.Ser210= Multiple submitters hereditary neoplastic syndrome
• p.Ser262= Multiple submitters hereditary neoplastic syndrome
• p.Ser265= Multiple submitters familial meningioma
• p.Ser314= Multiple submitters hereditary neoplastic syndrome
• p.Ser32= Multiple submitters hereditary neoplastic syndrome
• p.Ser353= Multiple submitters hereditary neoplastic syndrome
• p.Ser391= Multiple submitters hereditary neoplastic syndrome
• p.Ser393= Multiple submitters hereditary neoplastic syndrome
• p.Ser49= Multiple submitters hereditary neoplastic syndrome
• p.Ter412= Multiple submitters hereditary neoplastic syndrome
• p.Thr108= Multiple submitters hereditary neoplastic syndrome
• p.Thr263= Multiple submitters hereditary neoplastic syndrome
• p.Thr350= Multiple submitters hereditary neoplastic syndrome
• p.Thr361= Multiple submitters hereditary neoplastic syndrome
• p.Thr382= Multiple submitters hereditary neoplastic syndrome
• p.Thr395= Multiple submitters hereditary neoplastic syndrome
• p.Tyr119= Multiple submitters hereditary neoplastic syndrome
• p.Tyr170= Multiple submitters familial meningioma
• p.Tyr182= Multiple submitters hereditary neoplastic syndrome
• p.Tyr28= Multiple submitters hereditary neoplastic syndrome
• p.Tyr76= Multiple submitters familial meningioma
• p.Val212= Multiple submitters hereditary neoplastic syndrome
• p.Val219= Multiple submitters hereditary neoplastic syndrome
• c.1027+13C>G Single submitter familial meningioma
• c.1027+15A>G Single submitter familial meningioma
• c.1027+16C>A Single submitter familial meningioma
• c.1027+16C>G Single submitter familial meningioma
• c.1027+17A>G Single submitter familial meningioma
• c.1027+19A>G Single submitter familial meningioma
• c.1027+412A>G Single submitter
• c.1027+47G>A Single submitter
• c.1027+7C>G Single submitter familial meningioma
• c.1027+8A>G Single submitter familial meningioma
• c.1028-10G>T Single submitter familial meningioma
• c.1028-12G>A Single submitter familial meningioma
• c.1028-14A>C Single submitter familial meningioma
• c.1028-20T>A Single submitter familial meningioma
• c.1028-7A>G Single submitter familial meningioma
• c.1028-7del Single submitter familial meningioma
• c.156+10T>G Single submitter familial meningioma
• c.156+13A>G Single submitter familial meningioma
• c.156+16A>G Single submitter familial meningioma
• c.156+17T>C Single submitter familial meningioma
• c.156+20C>A Single submitter familial meningioma
• c.156+20C>T Single submitter familial meningioma
• c.156+20del Single submitter familial meningioma
• c.156+27C>T Single submitter
• c.156+9A>G Single submitter familial meningioma
• c.157-11C>T Single submitter familial meningioma
• c.157-11CT[3] Single submitter familial meningioma
• c.157-12A>T Single submitter familial meningioma
• c.157-13A>G Single submitter familial meningioma
• c.157-19G>A Single submitter familial meningioma
• c.157-20T>G Single submitter familial meningioma
• c.157-3dup Single submitter hereditary neoplastic syndrome
• c.157-4G>T Single submitter familial meningioma
• c.157-6del Single submitter familial meningioma
• c.237+14A>T Single submitter familial meningioma
• c.237+200del Single submitter
• c.237+8C>T Single submitter familial meningioma
• c.237+9T>G Single submitter familial meningioma
• c.238-11T>C Single submitter familial meningioma
• c.238-14G>C Single submitter familial meningioma
• c.238-16C>G Single submitter familial meningioma
• c.238-18A>T Single submitter familial meningioma
• c.238-19C>T Single submitter familial meningioma
• c.238-327C>T Single submitter
• c.238-3A>G Single submitter familial meningioma
• c.238-6T>C Single submitter familial meningioma
• c.238-7T>C Single submitter familial meningioma
• c.369+10G>A Single submitter familial meningioma
• c.369+13C>T Single submitter familial meningioma
• c.369+15C>T Single submitter familial meningioma
• c.369+17C>T Single submitter familial meningioma
• c.369+18A>G Single submitter familial meningioma
• c.369+18A>T Single submitter familial meningioma
• c.369+7T>G Single submitter familial meningioma
• c.369+8A>G Single submitter familial meningioma
• c.369+9G>T Single submitter familial meningioma
• c.370-12T>C Single submitter familial meningioma
• c.370-14C>T Single submitter familial meningioma
• c.370-14del Single submitter familial meningioma
• c.370-15A>T Single submitter familial meningioma
• c.370-16A>C Single submitter familial meningioma
• c.370-17A>C Single submitter familial meningioma
• c.370-17A>T Single submitter familial meningioma
• c.370-19A>G Single submitter familial meningioma
• c.370-20A>C Single submitter familial meningioma
• c.370-8A>C Single submitter familial meningioma
• c.370-9G>T Single submitter familial meningioma
• c.51+10A>C Single submitter familial meningioma
• c.51+19G>A Single submitter familial meningioma
• c.52-12T>G Single submitter familial meningioma
• c.52-15A>G Single submitter familial meningioma
• c.52-20G>T Single submitter familial meningioma
• c.52-5A>G Single submitter familial meningioma
• c.52-6C>T Single submitter familial meningioma
• c.541+10A>G Single submitter familial meningioma
• c.541+14_541+15insC Single submitter familial meningioma
• c.541+18G>C Single submitter familial meningioma
• c.541+254G>A Single submitter
• c.541+7G>T Single submitter familial meningioma
• c.541+8A>C Single submitter familial meningioma
• c.541+9A>C Single submitter familial meningioma
• c.542-13T>C Single submitter familial meningioma
• c.542-13T>G Single submitter familial meningioma
• c.542-15A>C Single submitter familial meningioma
• c.542-16A>G Single submitter familial meningioma
• c.542-195C>A Single submitter
• c.542-4C>G Single submitter familial meningioma
• c.542-4C>T Single submitter familial meningioma
• c.542-57dup Single submitter
• c.542-6C>T Single submitter familial meningioma
• c.542-7A>G Single submitter familial meningioma
• c.542-83G>A Single submitter
• c.542-8C>G Single submitter familial meningioma
• c.542-8C>T Single submitter familial meningioma
• c.7+10A>C Single submitter familial meningioma
• c.7+11dup Single submitter familial meningioma
• c.7+12T>A Single submitter familial meningioma
• c.7+12T>C Single submitter familial meningioma
• c.7+16T>C Single submitter familial meningioma
• c.7+17A>G Single submitter familial meningioma
• c.7+19A>G Single submitter familial meningioma
• c.714+14A>G Single submitter familial meningioma
• c.714+15C>T Single submitter familial meningioma
• c.714+16A>G Single submitter familial meningioma
• c.714+17T>C Single submitter familial meningioma
• c.714+185A>G Single submitter
• c.714+191T>C Single submitter
• c.714+19C>A Single submitter familial meningioma
• c.714+20A>G Single submitter familial meningioma
• c.714+8C>T Single submitter familial meningioma
• c.714+9A>G Single submitter familial meningioma
• c.715-11C>G Single submitter familial meningioma
• c.715-11C>T Single submitter familial meningioma
• c.715-11dup Single submitter familial meningioma
• c.715-12C>A Single submitter familial meningioma
• c.715-12C>G Single submitter familial meningioma
• c.715-12C>T Single submitter familial meningioma
• c.715-15G>A Single submitter familial meningioma
• c.715-16T>A Single submitter familial meningioma
• c.715-19G>A Single submitter familial meningioma
• c.715-20A>C Single submitter familial meningioma
• c.715-20A>G Single submitter familial meningioma
• c.715-6T>G Single submitter familial meningioma
• c.816+12A>G Single submitter familial meningioma
• c.816+14A>G Single submitter familial meningioma
• c.816+7G>A Single submitter familial meningioma
• c.816+8T>C Single submitter familial meningioma
• c.817-12T>G Single submitter familial meningioma
• c.817-15T>C Single submitter familial meningioma
• c.817-15T>G Single submitter familial meningioma
• c.817-16G>C Single submitter familial meningioma
• c.817-16G>T Single submitter familial meningioma
• c.817-18C>G Single submitter familial meningioma
• c.817-18C>T Single submitter familial meningioma
• c.817-20T>A Single submitter familial meningioma
• c.817-226G>A Single submitter
• c.817-62A>C Single submitter
• c.817-9T>C Single submitter familial meningioma
• c.-45-8dup Single submitter
• p.Ala121= Single submitter hereditary neoplastic syndrome
• p.Ala14= Single submitter hereditary neoplastic syndrome
• p.Ala141= Single submitter familial meningioma
• p.Ala145= Single submitter hereditary neoplastic syndrome
• p.Ala176= Single submitter hereditary neoplastic syndrome
• p.Ala192= Single submitter hereditary neoplastic syndrome
• p.Ala286= Single submitter hereditary neoplastic syndrome
• p.Ala290= Single submitter hereditary neoplastic syndrome
• p.Ala326= Single submitter familial meningioma
• p.Ala35= Single submitter hereditary neoplastic syndrome
• p.Ala378= Single submitter hereditary neoplastic syndrome
• p.Ala86= Single submitter hereditary neoplastic syndrome
• p.Arg148= Single submitter familial meningioma
• p.Arg158= Single submitter hereditary neoplastic syndrome
• p.Arg163= Single submitter familial meningioma
• p.Arg195= Single submitter familial meningioma
• p.Arg201= Single submitter
• p.Arg216= Single submitter hereditary neoplastic syndrome
• p.Arg223= Single submitter hereditary neoplastic syndrome
• p.Arg239= Single submitter hereditary neoplastic syndrome
• p.Arg257= Single submitter familial meningioma
• p.Arg299= Single submitter familial meningioma
• p.Arg313= Single submitter hereditary neoplastic syndrome
• p.Arg78= Single submitter familial meningioma
• p.Asn144= Single submitter hereditary neoplastic syndrome
• p.Asn327Lys Single submitter hereditary neoplastic syndrome
• p.Asn337= Single submitter familial meningioma

Uncertain significance 533

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

• c.1027+5C>G Multiple submitters familial meningioma
• c.237+3A>G Multiple submitters hereditary neoplastic syndrome
• c.237+4G>A Multiple submitters hereditary neoplastic syndrome
• c.238-15T>A Multiple submitters familial meningioma
• c.369+4G>A Multiple submitters familial meningioma
• c.369+5G>A Multiple submitters familial meningioma
• c.370-6T>C Multiple submitters hereditary neoplastic syndrome
• c.52-3C>T Multiple submitters familial meningioma
• c.541+3A>G Multiple submitters hereditary neoplastic syndrome
• c.715-3C>G Multiple submitters hereditary neoplastic syndrome
• c.817-3T>C Multiple submitters hereditary neoplastic syndrome
• p.Ala132Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala141Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala152Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala194Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala194Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala286Thr Multiple submitters familial meningioma ⚠
• p.Ala287Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala292Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala307Thr Multiple submitters familial meningioma ⚠
• p.Ala35Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ala8Thr Multiple submitters hereditary neoplastic syndrome
• p.Arg148Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg148His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg158Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg163Cys Multiple submitters Coffin-Siris syndrome 5 ⚠
• p.Arg163Leu Multiple submitters familial meningioma ⚠
• p.Arg195His Multiple submitters familial meningioma ⚠
• p.Arg201Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg201His Multiple submitters hereditary neoplastic syndrome
• p.Arg216Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg229Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg229Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg239Gln Multiple submitters familial meningioma ⚠
• p.Arg251Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg257Lys Multiple submitters familial meningioma ⚠
• p.Arg257Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg272Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg272Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg297His Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg297Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg303Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg313Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg313Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg40Ser Multiple submitters familial meningioma ⚠
• p.Arg50Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Arg50Trp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn268Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn268His Multiple submitters familial meningioma ⚠
• p.Asn268Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn29Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn386Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn38Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asn44Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp180Gly Multiple submitters Coffin-Siris syndrome 5 ⚠
• p.Asp180Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp183Asn Multiple submitters familial meningioma ⚠
• p.Asp184Glu Multiple submitters familial meningioma ⚠
• p.Asp264Asn Multiple submitters familial meningioma ⚠
• p.Asp281Asn Multiple submitters familial meningioma ⚠
• p.Asp407Tyr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Asp407Val Multiple submitters familial meningioma ⚠
• p.Gln113Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln161Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln324Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gln355Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu110Asp Multiple submitters hereditary neoplastic syndrome
• p.Glu111Gln Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu111Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu118Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu125Gln Multiple submitters familial meningioma ⚠
• p.Glu168Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu250Asp Multiple submitters familial meningioma ⚠
• p.Glu254del Multiple submitters familial meningioma
• p.Glu261Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu294Lys Multiple submitters familial meningioma ⚠
• p.Glu330_Asp334del Multiple submitters hereditary neoplastic syndrome
• p.Glu331del Multiple submitters hereditary neoplastic syndrome
• p.Glu352Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu368Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu372Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu406Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Glu408Lys Multiple submitters familial meningioma ⚠
• p.Gly101Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly167Arg Multiple submitters familial meningioma ⚠
• p.Gly24Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly275Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly275Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly329= Multiple submitters hereditary neoplastic syndrome
• p.Gly329Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly370Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly370Val Multiple submitters familial meningioma ⚠
• p.Gly373Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly46Asp Multiple submitters hereditary neoplastic syndrome ⚠
• p.Gly56Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.His346Asn Multiple submitters Coffin-Siris syndrome 5 ⚠
• p.Ile124Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ile206Met Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ile248Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ile338Val Multiple submitters familial meningioma ⚠
• p.Ile404Lys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ile404Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ile59Phe Multiple submitters familial meningioma ⚠
• p.Leu116Val Multiple submitters hereditary neoplastic syndrome
• p.Leu246del Multiple submitters hereditary neoplastic syndrome
• p.Lys228Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Lys228Thr Multiple submitters familial meningioma ⚠
• p.Lys256del Multiple submitters familial meningioma
• p.Lys256Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Lys305del Multiple submitters familial meningioma
• p.Lys332Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Lys367Glu Multiple submitters familial meningioma ⚠
• p.Met130Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Met164Val Multiple submitters hereditary neoplastic syndrome ⚠
• p.Met171Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Met188Leu Multiple submitters familial meningioma ⚠
• p.Met1fs Multiple submitters hereditary neoplastic syndrome
• p.Met282Val Multiple submitters familial meningioma ⚠
• p.Met340Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Met377Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro10Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro137Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro13Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro15Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro23Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro320Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro339Ala Multiple submitters familial meningioma ⚠
• p.Pro364Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro364del Multiple submitters hereditary neoplastic syndrome
• p.Pro364Ser Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro45Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Pro45Ser Multiple submitters familial meningioma ⚠
• p.Ser147Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser157Thr Multiple submitters familial meningioma ⚠
• p.Ser162Thr Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser204Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser21Gly Multiple submitters familial meningioma ⚠
• p.Ser32Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser353Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser353fs Multiple submitters hereditary neoplastic syndrome
• p.Ser353Gly Multiple submitters familial meningioma ⚠
• p.Ser376Asn Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser376Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser389Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser389Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Ser389Trp Multiple submitters familial meningioma ⚠
• p.Ser391Asn Multiple submitters familial meningioma ⚠
• p.Ser393Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.*412Pheext*1 Multiple submitters hereditary neoplastic syndrome
• p.Thr12Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr342Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr345Arg Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr350Arg Multiple submitters familial meningioma ⚠
• p.Thr363Ile Multiple submitters familial meningioma ⚠
• p.Thr382Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr382Ile Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr387Pro Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr395Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr52Met Multiple submitters hereditary neoplastic syndrome ⚠
• p.Thr58Met Multiple submitters familial meningioma ⚠
• p.Tyr142Phe Multiple submitters hereditary neoplastic syndrome ⚠
• p.Tyr170Cys Multiple submitters familial meningioma ⚠
• p.Tyr182Asp Multiple submitters familial meningioma ⚠
• p.Tyr36Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Tyr39Cys Multiple submitters hereditary neoplastic syndrome ⚠
• p.Val211Leu Multiple submitters hereditary neoplastic syndrome ⚠
• p.Val236Ile Multiple submitters familial meningioma ⚠
• p.Val278Ala Multiple submitters hereditary neoplastic syndrome ⚠
• p.Val280Ala Multiple submitters familial meningioma ⚠
• p.Val374Leu Multiple submitters familial meningioma ⚠
• p.Val51Gly Multiple submitters hereditary neoplastic syndrome ⚠
• p.Val51Phe Multiple submitters familial meningioma ⚠
• c.1027+5C>T Single submitter hereditary neoplastic syndrome
• c.1027+6C>A Single submitter familial meningioma
• c.1027+6C>G Single submitter familial meningioma
• c.1028-3C>T Single submitter hereditary neoplastic syndrome
• c.156+34C>T Single submitter
• c.156+4G>A Single submitter familial meningioma
• c.156+4G>T Single submitter hereditary neoplastic syndrome
• c.156+6A>G Single submitter familial meningioma
• c.369+3A>T Single submitter hereditary neoplastic syndrome
• c.369+6G>A Single submitter familial meningioma
• c.370-3C>T Single submitter hereditary neoplastic syndrome
• c.51+1G>T Single submitter
• c.52-3C>A Single submitter
• c.541+17G>A Single submitter familial meningioma
• c.541+18G>A Single submitter familial meningioma
• c.541+5A>G Single submitter familial meningioma
• c.542-17C>G Single submitter familial meningioma
• c.7+1G>A Single submitter
• c.7+3_7+6del Single submitter
• c.714+6G>A Single submitter familial meningioma
• c.715-8del Single submitter familial meningioma
• c.8-3C>G Single submitter familial meningioma
• c.816+1G>A Single submitter hereditary neoplastic syndrome
• c.817-15T>A Single submitter familial meningioma
• c.-2A>G Single submitter hereditary neoplastic syndrome
• c.-6T>C Single submitter
• p.Ala132Ser Single submitter hereditary neoplastic syndrome ⚠
• p.Ala132Val Single submitter familial meningioma ⚠
• p.Ala141Ser Single submitter familial meningioma ⚠
• p.Ala145Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala149Val Single submitter familial meningioma ⚠
• p.Ala14Thr Single submitter familial meningioma ⚠
• p.Ala151Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala16= Single submitter
• p.Ala16Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala176Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala176Val Single submitter familial meningioma ⚠
• p.Ala192Pro Single submitter hereditary neoplastic syndrome ⚠
• p.Ala192Thr Single submitter familial meningioma ⚠
• p.Ala222Gly Single submitter familial meningioma ⚠
• p.Ala286Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Ala290Gly Single submitter familial meningioma ⚠
• p.Ala292fs Single submitter familial meningioma
• p.Ala296Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Ala296Val Single submitter familial meningioma ⚠
• p.Ala307Val Single submitter familial meningioma ⚠
• p.Ala35Val Single submitter hereditary neoplastic syndrome ⚠
• p.Ala394fs Single submitter hereditary neoplastic syndrome
• p.Ala394Pro Single submitter familial meningioma ⚠
• p.Ala86Ser Single submitter familial meningioma
• p.Arg158Leu Single submitter familial meningioma ⚠
• p.Arg160Gly Single submitter familial meningioma ⚠
• p.Arg163Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Arg195Cys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg216Trp Single submitter familial meningioma ⚠
• p.Arg223Gly Single submitter familial meningioma ⚠
• p.Arg297Pro Single submitter hereditary neoplastic syndrome
• p.Arg299Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Arg299Met Single submitter familial meningioma ⚠
• p.Arg299Ser Single submitter familial meningioma ⚠
• p.Arg299Thr Single submitter familial meningioma ⚠
• p.Arg313Gln Single submitter hereditary neoplastic syndrome
• p.Arg40Lys Single submitter familial meningioma ⚠
• p.Arg40Met Single submitter hereditary neoplastic syndrome ⚠
• p.Arg50Gly Single submitter familial meningioma ⚠
• p.Arg75Gly Single submitter ⚠
• p.Arg75Met Single submitter familial meningioma ⚠
• p.Asn127Ser Single submitter familial meningioma ⚠
• p.Asn268Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Asn327Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn337Thr Single submitter ⚠
• p.Asn356Thr Single submitter hereditary neoplastic syndrome ⚠
• p.Asn37Lys Single submitter ⚠
• p.Asn386Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Asn386Ser Single submitter familial meningioma ⚠
• p.Asn38Ile Single submitter hereditary neoplastic syndrome ⚠
• p.Asn392Asp Single submitter familial meningioma ⚠
• p.Asn392Ser Single submitter familial meningioma ⚠
• p.Asn44Tyr Single submitter familial meningioma ⚠
• p.Asn48Asp Single submitter hereditary neoplastic syndrome ⚠
• p.Asn88Ser Single submitter familial meningioma ⚠
• p.Asp109Gly Single submitter familial meningioma ⚠
• p.Asp178His Single submitter hereditary neoplastic syndrome ⚠
• p.Asp178Val Single submitter familial meningioma ⚠
• p.Asp180Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp180Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp181Glu Single submitter familial meningioma ⚠
• p.Asp183Gly Single submitter familial meningioma ⚠
• p.Asp184Asn Single submitter familial meningioma ⚠
• p.Asp184del Single submitter
• p.Asp184Gly Single submitter hereditary neoplastic syndrome
• p.Asp214Asn Single submitter familial meningioma ⚠
• p.Asp264Gly Single submitter familial meningioma
• p.Asp334His Single submitter hereditary neoplastic syndrome ⚠
• p.Asp335del Single submitter familial meningioma
• p.Asp335Glu Single submitter familial meningioma ⚠
• p.Asp366Asn Single submitter ⚠
• p.Asp384Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp402Ala Single submitter hereditary neoplastic syndrome ⚠
• p.Asp402Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp402Thr Single submitter hereditary neoplastic syndrome
• p.Asp407Glu Single submitter hereditary neoplastic syndrome ⚠
• p.Asp407Gly Single submitter hereditary neoplastic syndrome ⚠
• p.Asp67Glu Single submitter SMARCE1-related disorder ⚠
• p.Asp82Asn Single submitter Coffin-Siris syndrome 5 ⚠
• p.Asp90Asn Single submitter familial meningioma ⚠
• p.Cys274Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln159His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln161His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln174Arg Single submitter familial meningioma ⚠
• p.Gln174His Single submitter familial meningioma ⚠
• p.Gln18Leu Single submitter familial meningioma ⚠
• p.Gln197Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln197His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln225Arg Single submitter familial meningioma ⚠
• p.Gln232Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln253Arg Single submitter hereditary neoplastic syndrome ⚠
• p.Gln253Glu Single submitter familial meningioma ⚠
• p.Gln295His Single submitter hereditary neoplastic syndrome ⚠
• p.Gln295Lys Single submitter hereditary neoplastic syndrome ⚠
• p.Gln300Arg Single submitter familial meningioma ⚠
• p.Gln310Glu Single submitter familial meningioma ⚠
• p.Gln310Leu Single submitter hereditary neoplastic syndrome ⚠
• p.Gln315Pro Single submitter familial meningioma ⚠
• p.Gln324Leu Single submitter familial meningioma ⚠
• p.Gln354Arg Single submitter familial meningioma ⚠
• p.Gln355_Asn356insSerSerSerGlnGln Single submitter familial meningioma
• p.Gln355Lys Single submitter ⚠