Full data view for gene SMARCE1

Information The variants shown are described using the NM_003079.4 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-45-20dup r.(=) p.(=) Unknown - VUS g.38802128dup - SMARCE1(NM_003079.5):c.-45-20dupT - SMARCE1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-45-8del r.(=) p.(=) Unknown - benign g.38802116del g.40645864del SMARCE1(NM_003079.5):c.-45-8del, SMARCE1(NM_003079.5):c.-45-8delT - SMARCE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45-8del r.(=) p.(=) Unknown - likely benign g.38802116del - SMARCE1(NM_003079.5):c.-45-8del, SMARCE1(NM_003079.5):c.-45-8delT - SMARCE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45-8dup r.(=) p.(=) Unknown - likely benign g.38802116dup - SMARCE1(NM_003079.5):c.-45-8dup - SMARCE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45-7A>T r.(=) p.(=) Unknown - likely benign g.38802106T>A g.40645854T>A SMARCE1(NM_003079.5):c.-45-7A>T - SMARCE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_11_ c.(?_-1)_(*1_?)del r.0? p.0? Unknown - pathogenic g.(?_38785036)_(38802055_?)del g.(?_40628784)_(40645803_?)del -?_1236+?del - SMARCE1_000006 - PubMed: Louvrier 2018 - - Germline - - - - - DNA SEQ-NG Blood - meningioma NF2 00394 PubMed: Louvrier 2018 - M - France - - - - - 1 Beatrice Parfait
?/. - c.57G>T r.(?) p.(Met19Ile) Unknown - VUS g.38798806C>A - SMARCE1(NM_003079.4):c.57G>T (p.(Met19Ile)) - SMARCE1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>G r.(?) p.(Asn44Lys) Unknown - likely benign g.38798731G>C g.40642479G>C SMARCE1(NM_003079.4):c.132C>G (p.(Asn44Lys)) - SMARCE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>G r.(?) p.(Asn44Lys) Unknown - likely benign g.38798731G>C - SMARCE1(NM_003079.4):c.132C>G (p.(Asn44Lys)) - SMARCE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157-4G>A r.spl? p.? Unknown - likely benign g.38793828C>T - SMARCE1(NM_003079.4):c.157-4G>A (p.?) - SMARCE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.? Parent #1 - VUS g.(3879235_38792646)_(38793825_38798706)del - Deletion of the promoter region of Exon 5 and Exon 6, not specified - SMARCE1_000019 - PubMed: Smith MJ 2014 - - Germline - - - - - DNA SEQ - - meningioma - PubMed: Smith MJ 2014 - F - - - - - - - 1 Julia Lopez
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.? Parent #1 - VUS g.(3879235_38792646)_(38793825_38798706)del - Deletion of the promoter region of Exon 5 and Exon 6, not specified - SMARCE1_000019 - PubMed: Smith MJ 2014 - - Germline - - - - - DNA SEQ - - meningioma - PubMed: Smith MJ 2014 - F - - - - - - - 1 Julia Lopez
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.? Parent #1 - VUS g.(3879235_38792646)_(38793825_38798706)del - Deletion of the promoter region of Exon 5 and Exon 6, not specified - SMARCE1_000019 - PubMed: Smith MJ 2014 - - Germline - - - - - DNA SEQ - - meningioma - PubMed: Smith MJ 2014 - F - - - - - - - 1 Julia Lopez
?/. 4i_6i c.(156+1_157-1)_(369+1_370-1)del r.spl? p.? Parent #1 - VUS g.(3879235_38792646)_(38793825_38798706)del - Deletion of the promoter region of Exon 5 and Exon 6, not specified - SMARCE1_000019 - PubMed: Smith MJ 2014 - - Unknown - - - - - DNA SEQ - - Healthy/Control - PubMed: Smith MJ 2014 no evidence of disease at 71y M - - - - - - - 1 Julia Lopez
?/. - c.206C>T r.(?) p.(Pro69Leu) Unknown - VUS g.38793775G>A g.40637523G>A - - SMARCE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.218A>C r.(?) p.(Tyr73Ser) Unknown - pathogenic g.38793763T>G g.40637511T>G - - SMARCE1_000002 - PubMed: Wieczorek 2013 - - De novo yes - - - - DNA SEQ - - CSS K2442 PubMed: Wieczorek 2013 - F - - - - - - - 1 Eline van der Sluijs
+/. 5 c.218A>G r.(?) p.(Tyr73Cys) Unknown - pathogenic (dominant) g.38793763T>C g.40637511T>C - - SMARCE1_000001 not in 386 control chromosomes PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014 - - De novo - - - - - DNA SEQ - - CSS Pat24;Pat24 PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014 - F - Japan - - - - - 1 Eline van der Sluijs
?/. 5 c.218A>G r.(?) p.(Tyr73Cys) Parent #1 - VUS g.38793763T>C g.40637511T>C - - SMARCE1_000001 Refseq: not provided PubMed: Zarate 2016 - - Unknown - - - - - DNA SEQ - - CSS Pat2 PubMed: Zarate 2016 - F - - - - - - - 1 Julia Lopez
+/. - c.218A>G r.(?) p.(Tyr73Cys) Unknown - likely pathogenic (dominant) g.38793763T>C - - - SMARCE1_000001 - PubMed: Gofin 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - CSS Pat4 PubMed: Gofin 2022 2-generation family, 1 affected, unaffected non carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. 5i c.237+2T>C r.spl? p.(=) Parent #1 - VUS g.38793742A>G g.40637490A>G c. 237+2T>C p.Lys79_Val80ins3*, p.Ala53_Lys79del - SMARCE1_000022 - PubMed: Smith MJ 2013 - - Unknown - - - - - DNA SEQ - - meningioma I2, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - 1 Julia Lopez
?/. 5i c.237+2T>C r.spl? p.(=) Parent #1 - VUS g.38793742A>G g.40637490A>G c. 237+2T>C p.Lys79_Val80ins3*, p.Ala53_Lys79del - SMARCE1_000022 - PubMed: Smith MJ 2013 - - Germline - - - - - DNA SEQ - - meningioma II1, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - 1 Julia Lopez
+/. 6 c.242G>A r.(?) p.(Trp81*) Unknown - pathogenic g.38792774C>T g.40636522C>T - - SMARCE1_000004 - PubMed: Louvrier 2018 - - Germline - - - - - DNA SEQ-NG Blood - meningioma NF2 00227 PubMed: Louvrier 2018 - M - France - - - - - 1 Beatrice Parfait
?/. 6 c.275dup r.(?) p.(Leu93ValfsTer17) Parent #1 - VUS g.38792743dup g.40636491dup p.(Leu93Valfs*17) - SMARCE1_000021 - PubMed: Smith MJ 2014 - - Unknown - - - - - DNA SEQ - - meningioma - PubMed: Smith MJ 2014 - M - - - - - - - 1 Julia Lopez
+?/. - c.276G>C r.(?) p.(Lys92Asn) † Unknown - likely pathogenic g.38792740C>G g.40636488C>G - - SMARCE1_000028 - PubMed: Lefebvre 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES ? - PubMed: Lefebvre 2021 fetus M - France - - - - - 1 Johan den Dunnen
+/. 6 c.281G>A r.(?) p.(Trp94*) Unknown - pathogenic g.38792735C>T g.40636483C>T - - SMARCE1_000005 - PubMed: Louvrier 2018 - - Germline - - - - - DNA SEQ-NG Blood - meningioma NF2 00267 PubMed: Louvrier 2018 - F - France - - - - - 1 Beatrice Parfait
-?/. - c.300T>A r.(?) p.(Ile100=) Unknown - likely benign g.38792716A>T - SMARCE1(NM_003079.4):c.300T>A (p.I100=) - SMARCE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.311G>A r.(?) p.(Trp104*) Parent #1 - VUS g.38792705C>T g.40636453C>T - - SMARCE1_000020 - PubMed: Smith MJ 2013 - - Unknown - - - - - DNA SEQ - - meningioma II1, Fam3 PubMed: Smith MJ 2013 - M - - - - - - - 1 Julia Lopez
+/. 6 c.314G>A r.(?) p.(Arg105Gln) Unknown - pathogenic g.38792702C>T g.40636450C>T - - SMARCE1_000003 - PubMed: Santen 2013 - - Germline yes - - - - DNA SEQ - - CSS - PubMed: Santen 2013 - M - - - - - - - 1 Eline van der Sluijs
?/. 6 c.314G>A r.(?) p.(Arg105Gln) Parent #1 - VUS g.38792702C>T g.40636450C>T - - SMARCE1_000003 Refseq: not provided PubMed: Zarate 2016 - - De novo - - - - - DNA SEQ - - CSS Pat3 PubMed: Zarate 2016 - F - - - - - - - 1 Julia Lopez
-?/. - c.351C>T r.(?) p.(Asn117=) Unknown - likely benign g.38792665G>A g.40636413G>A SMARCE1(NM_003079.5):c.351C>T (p.N117=) - SMARCE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu) Parent #1 - VUS g.38792329_38792350inv g.40636077_40636098inv p.(Glu125_Ala132delinsGlyLeuHisArgPhelleValLeu) - SMARCE1_000017 - PubMed: Smith MJ 2014 - - Unknown - - - - - DNA SEQ - - meningioma - PubMed: Smith MJ 2014 - F - - - - - - - 1 Julia Lopez
?/. 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu) Parent #1 - VUS g.38792329_38792350inv g.40636077_40636098inv p.(Glu125_Ala132delinsGlyLeuHisArgPhelleValLeu) - SMARCE1_000017 - PubMed: Smith MJ 2014 - - Germline - - - - - DNA SEQ - - meningioma - PubMed: Smith MJ 2014 - F - - - - - - - 1 Julia Lopez
?/. 6 c.374_395inv r.(?) p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu) Parent #1 - VUS g.38792329_38792350inv g.40636077_40636098inv p.(Glu125_Ala132delinsGlyLeuHisArgPhelleValLeu) - SMARCE1_000017 - PubMed: Smith MJ 2014 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Smith MJ 2014 - M - - - - - - - 1 Julia Lopez
?/. 6 c.376T>G r.(?) p.(Tyr126Asp) Parent #1 - VUS g.38792348A>C g.40636096A>C - - SMARCE1_000018 Refseq: not provided PubMed: Zarate 2016 - - De novo - - - - - DNA SEQ - - CSS Pat1 PubMed: Zarate 2016 - M - - - - - - - 1 Julia Lopez
-?/. - c.411C>T r.(?) p.(Pro137=) Unknown - likely benign g.38792313G>A - SMARCE1(NM_003079.4):c.411C>T (p.(=)) - SMARCE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.443G>A r.(?) p.(Arg148His) Unknown - likely benign g.38792281C>T - SMARCE1(NM_003079.5):c.443G>A (p.(Arg148His)) - SMARCE1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487C>T r.(?) p.(Arg163Cys) Unknown - likely benign g.38792237G>A - SMARCE1(NM_003079.5):c.487C>T (p.(Arg163Cys)) - SMARCE1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.572dup r.(?) p.(Ala192SerfsTer14) Parent #1 - VUS g.38788589dup g.40632337dup - - SMARCE1_000015 - PubMed: Smith MJ 2013 - - Germline - - - - - DNA SEQ - - meningioma II1, Fam4 PubMed: Smith MJ 2013 - F - - - - - - - 1 Julia Lopez
?/. 7 c.572dup r.(?) p.(Leu192Profs*18) Parent #1 - VUS g.38788589dup g.40632337dup c.572insC - SMARCE1_000016 - PubMed: Smith MJ 2013 - - Germline - - - - - DNA SEQ - - meningioma II1, Fam4 PubMed: Smith MJ 2013 - F - - - - - - - 1 Julia Lopez
?/. 7 c.572dup r.(?) p.(Leu192Profs*18) Parent #1 - VUS g.38788589dup g.40632337dup c.572insC - SMARCE1_000016 - PubMed: Smith MJ 2013 - - Unknown - - - - - DNA SEQ - - Healthy/Control I1, Fam4 PubMed: Smith MJ 2013 ? - - - - - - - - 1 Julia Lopez
?/. 9 c.715C>T r.(?) p.(Arg239*) Parent #1 - VUS g.38787945G>A g.40631693G>A - - SMARCE1_000014 - PubMed: Smith MJ 2013 - - Unknown - - - - - DNA SEQ - - meningioma I2, Fam1 PubMed: Smith MJ 2013 - F - - - - - - - 1 Julia Lopez
?/. 9 c.715C>T r.(?) p.(Arg239*) Parent #1 - VUS g.38787945G>A g.40631693G>A - - SMARCE1_000014 - PubMed: Smith MJ 2013 - - Germline - - - - - DNA SEQ - - meningioma II1, Fam2 PubMed: Smith MJ 2013 - F - - - - - - - 1 Julia Lopez
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5) Parent #1 - VUS g.38787849del g.40631597del - - SMARCE1_000013 Refseq: not provided PubMed: Gerkes EH 2016 - - Germline - - - - - DNA SEQ - - meningioma IV2 PubMed: Gerkes EH 2016 - M - - - - - - - 1 Julia Lopez
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5) Parent #1 - VUS g.38787849del g.40631597del - - SMARCE1_000013 Refseq: not provided PubMed: Gerkes EH 2016 - - Germline - - - - - DNA SEQ - - Healthy/Control IV1 PubMed: Gerkes EH 2016 - F - - - - - - - 1 Julia Lopez
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5) Parent #1 - VUS g.38787849del g.40631597del - - SMARCE1_000013 Refseq: not provided PubMed: Gerkes EH 2016 - - Germline - - - - - DNA SEQ - - Healthy/Control IV3 PubMed: Gerkes EH 2016 - M - - - - - - - 1 Julia Lopez
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5) Parent #1 - VUS g.38787849del g.40631597del - - SMARCE1_000013 Refseq: not provided PubMed: Gerkes EH 2016 - - Germline - - - - - DNA SEQ - - Healthy/Control III2 PubMed: Gerkes EH 2016 - M - - - - - - - 1 Julia Lopez
?/. 9 c.814del r.(?) p.(Arg272Glyfs*5) Parent #1 - VUS g.38787849del g.40631597del - - SMARCE1_000013 Refseq: not provided PubMed: Gerkes EH 2016 - - Germline - - - - - DNA SEQ - - Healthy/Control III5 PubMed: Gerkes EH 2016 - F - - - - - - - 1 Julia Lopez
-?/. - c.817-9dup r.(=) p.(=) Unknown - likely benign g.38787191dup - SMARCE1(NM_003079.4):c.817-9dupT - SMARCE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822C>T r.(?) p.(=) Unknown - likely benign g.38787171G>A - SMARCE1(NM_003079.5):c.822C>T (p.C274=) - SMARCE1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.842A>G r.(?) p.(Asp281Gly) Unknown - likely benign g.38787151T>C - SMARCE1(NM_003079.4):c.842A>G (p.(Asp281Gly)) - SMARCE1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.862G>A r.(?) p.(Glu288Lys) Unknown - VUS g.38787131C>T g.40630879C>T SMARCE1(NM_003079.5):c.862G>A (p.E288K) - SMARCE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889C>T r.(?) p.(Arg297Cys) Unknown - VUS g.38787104G>A - SMARCE1(NM_003079.5):c.889C>T (p.R297C) - SMARCE1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.922G>A r.(?) p.(Ala308Thr) Unknown - likely benign g.38787071C>T - SMARCE1(NM_003079.4):c.922G>A (p.(Ala308Thr)) - SMARCE1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.996_998del r.(?) p.(Lys333del) Unknown - VUS g.38786999_38787001del - SMARCE1(NM_003079.5):c.996_998delGAA (p.K333del) - SMARCE1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079G>A r.(?) p.(Gly360Asp) Unknown - likely benign g.38785194C>T g.40628942C>T SMARCE1(NM_003079.4):c.1079G>A (p.G360D, p.(Gly360Asp)), SMARCE1(NM_003079.5):c.1079G>A (p.G360D) - SMARCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079G>A r.(?) p.(Gly360Asp) Unknown - likely benign g.38785194C>T g.40628942C>T SMARCE1(NM_003079.4):c.1079G>A (p.G360D, p.(Gly360Asp)), SMARCE1(NM_003079.5):c.1079G>A (p.G360D) - SMARCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079G>A r.(?) p.(Gly360Asp) Unknown - likely benign g.38785194C>T g.40628942C>T SMARCE1(NM_003079.4):c.1079G>A (p.G360D, p.(Gly360Asp)), SMARCE1(NM_003079.5):c.1079G>A (p.G360D) - SMARCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079G>A r.(?) p.(Gly360Asp) Unknown - VUS g.38785194C>T g.40628942C>T SMARCE1(NM_003079.4):c.1079G>A (p.G360D, p.(Gly360Asp)), SMARCE1(NM_003079.5):c.1079G>A (p.G360D) - SMARCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1079G>A r.(?) p.(Gly360Asp) Unknown - benign g.38785194C>T g.40628942C>T SMARCE1(NM_003079.4):c.1079G>A (p.G360D, p.(Gly360Asp)), SMARCE1(NM_003079.5):c.1079G>A (p.G360D) - SMARCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089T>C r.(?) p.(Thr363=) Unknown - likely benign g.38785184A>G - SMARCE1(NM_003079.5):c.1089T>C (p.T363=) - SMARCE1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1122C>T r.(?) p.(Val374=) Unknown - likely benign g.38785151G>A g.40628899G>A SMARCE1(NM_003079.4):c.1122C>T (p.V374=) - SMARCE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2065T>C r.(=) p.(=) Unknown - likely benign g.38782972A>G - SMARCE1(NM_003079.5):c.*2065T>C - SMARCE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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