Full data view for gene TGFB1

Information The variants shown are described using the NM_000660.4 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.-34517C>T r.(?) p.(=) Unknown - VUS g.41893466G>A - EXOSC5(NM_020158.4):c.568C>T (p.R190W) - B9D2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-33642del r.(?) p.(=) Unknown - likely pathogenic g.41892591del - EXOSC5(NM_020158.3):c.655delC (p.(His219fs)) - B9D2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30550C>T r.(?) p.(=) Unknown - likely benign g.41889499G>A - TMEM91(NM_001042595.2):c.394G>A (p.(Val132Ile)) - B9D2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10443A>G r.(?) p.(=) Unknown - benign g.41869392T>C g.41363487T>C B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M) - B9D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10443A>G r.(?) p.(=) Unknown - benign g.41869392T>C g.41363487T>C B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M) - B9D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10443A>G r.(?) p.(=) Unknown - benign g.41869392T>C g.41363487T>C B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M) - B9D2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4988C>T r.(?) p.(=) Unknown - likely benign g.41863937G>A - B9D2(NM_030578.3):c.89-10C>T - B9D2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4884C>T r.(?) p.(=) Unknown - likely benign g.41863833G>A - B9D2(NM_030578.4):c.183C>T (p.I61=) - B9D2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4872C>T r.(?) p.(=) Unknown - likely benign g.41863821G>A g.41357916G>A B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=) - B9D2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4872C>T r.(?) p.(=) Unknown - likely benign g.41863821G>A - B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=) - B9D2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1985C>G r.(?) p.(=) Unknown - likely benign g.41860934G>C - B9D2(NM_030578.4):c.215-16C>G - B9D2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1811C>T r.(?) p.(=) Unknown - VUS g.41860760G>A - B9D2(NM_030578.3):c.373C>T (p.R125W) - B9D2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1752C>T r.(?) p.(=) Unknown - likely benign g.41860701G>A - B9D2(NM_030578.4):c.432C>T (p.A144=) - B9D2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1700G>T r.(?) p.(=) Unknown - VUS g.41860649C>A - B9D2(NM_030578.3):c.484G>T (p.G162C) - B9D2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1638G>A r.(?) p.(=) Unknown - benign g.41860587C>T g.41354682C>T - - B9D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.41858921G>A g.41353016G>A TGFB1(NM_000660.7):c.29C>T (p.P10L) - TGFB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.29C>T r.(?) p.(Pro10Leu) Unknown - benign g.41858921G>A g.41353016G>A TGFB1(NM_000660.7):c.29C>T (p.P10L) - TGFB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58G>C r.(?) p.(Val20Leu) Unknown - likely benign g.41858892C>G - TGFB1(NM_000660.4):c.58G>C (p.(Val20Leu)) - B9D2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.74G>C r.(?) p.(Arg25Pro) Unknown - VUS g.41858876C>G g.41352971C>G - - TGFB1_000010 for details see the Uveogene database PubMed: Amirzargar 2012 - rs1800471 Germline - 40/508 cases - - - DNA arraySNP Blood - Behcet - PubMed: Amirzargar 2012 Iranian cohort F;M - Iran Iranian - - for details see the Uveogene database - 40 Peizeng Yang
-?/. - c.74G>C r.(?) p.(Arg25Pro) Unknown - likely benign g.41858876C>G g.41352971C>G TGFB1(NM_000660.4):c.74G>C (p.(Arg25Pro)) - TGFB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85G>A r.(?) p.(Gly29Arg) Unknown - VUS g.41858865C>T - TGFB1(NM_000660.7):c.85G>A (p.(Gly29Arg)) - B9D2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86G>A r.(?) p.(Gly29Glu) Unknown - VUS g.41858864C>T - TGFB1(NM_000660.4):c.86G>A (p.(Gly29Glu)), TGFB1(NM_000660.7):c.86G>A (p.G29E) - B9D2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86G>A r.(?) p.(Gly29Glu) Unknown - VUS g.41858864C>T - TGFB1(NM_000660.4):c.86G>A (p.(Gly29Glu)), TGFB1(NM_000660.7):c.86G>A (p.G29E) - B9D2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.86G>C r.(?) p.(Gly29Ala) Parent #1 - VUS g.41858864C>G g.41352959C>G - - TGFB1_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. - c.99C>A r.(?) p.(Cys33*) Parent #1 - pathogenic g.41858851G>T g.41352946G>T - - chr19_000361 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. - c.206C>T r.(?) p.(Pro69Leu) Unknown - VUS g.41858744G>A g.41352839G>A TGFB1(NM_000660.4):c.206C>T (p.(Pro69Leu)) - TGFB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256G>T r.(?) p.(Asp86Tyr) Unknown - VUS g.41858694C>A - TGFB1(NM_000660.7):c.256G>T (p.(Asp86Tyr)) - B9D2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Thr116=) Unknown - likely benign g.41858602G>A g.41352697G>A TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=) - B9D2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Thr116=) Unknown - likely benign g.41858602G>A - TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=) - B9D2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355+5G>A r.spl? p.? Unknown - likely benign g.41858590C>T - TGFB1(NM_000660.4):c.355+5G>A (p.?) - B9D2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>A r.(?) p.(Met133Ile) Unknown - likely benign g.41854317C>T - TGFB1(NM_000660.4):c.399G>A (p.(Met133Ile)) - B9D2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422G>A r.(?) p.(Arg141Gln) Unknown - VUS g.41854294C>T - TGFB1(NM_000660.6):c.422G>A (p.R141Q) - B9D2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.466C>T r.(?) p.(Arg156Cys) Unknown - pathogenic g.41854250G>A g.41348345G>A TGFB1(NM_000660.7):c.466C>T (p.R156C) - B9D2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.553C>T r.(?) p.(Arg185Trp) Parent #1 - VUS g.41850733G>A g.41344828G>A - - TGFB1_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
./. - c.604G>A r.(?) p.(Gly202Arg) Parent #1 - VUS g.41850682C>T g.41344777C>T - - TGFB1_000005 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+?/. 4 c.653G>A r.(?) p.(Tyr494*) Maternal (confirmed) ACMG pathogenic (!) g.30689286C>A g.41342229C>T - - TGFB1_000016 identified also in asymptomatic patient's mother and brother (incomplete penetrance!) - ClinVar-12529 rs104894720 Germline - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
-?/. - c.661G>A r.(?) p.(Ala221Thr) Unknown - likely benign g.41848126C>T - TGFB1(NM_000660.4):c.661G>A (p.(Ala221Thr)) - TGFB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.673T>C r.(?) p.(Cys225Arg) Unknown - likely pathogenic g.41848114A>G g.41342209A>G - - TGFB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.684G>T r.(?) p.(Arg228Ser) Unknown - VUS g.41848103C>A - TGFB1(NM_000660.7):c.684G>T (p.R228S) - TGFB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.713-8del r.(=) p.(=) Unknown - likely benign g.41847944del g.41342039del TGFB1(NM_000660.4):c.713-8delC (p.(=)) - TGFB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.715T>A r.(?) p.(Phe239Ile) Unknown - likely benign g.41847933A>T - TGFB1(NM_000660.4):c.715T>A (p.(Phe239Ile)) - TGFB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730C>T r.(?) p.(Arg244*) Unknown - VUS g.41847918G>A - TGFB1(NM_000660.7):c.730C>T (p.R244*) - TGFB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.764G>A r.(?) p.(Arg255Gln) Parent #1 - VUS g.41847884C>T g.41341979C>T - - TGFB1_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.764G>A r.(?) p.(Arg255Gln) Unknown - likely benign g.41847884C>T - TGFB1(NM_000660.7):c.764G>A (p.(Arg255Gln)) - TGFB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.788C>T r.(?) p.(Thr263Ile) Parent #1 - VUS g.41847860G>A g.41341955G>A - - TGFB1_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 5 Melissa DeRycke
./. - c.788C>T r.(?) p.(Thr263Ile) Parent #1 - VUS g.41847860G>A g.41341955G>A - - TGFB1_000003 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 56 Melissa DeRycke
-/. - c.788C>T r.(?) p.(Thr263Ile) Unknown - benign g.41847860G>A g.41341955G>A TGFB1(NM_000660.4):c.788C>T (p.(Thr263Ile)) - TGFB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.788C>T r.(?) p.(Thr263Ile) Parent #1 - benign g.41847860G>A g.41341955G>A - - TGFB1_000003 39 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800472 Germline - 39/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 39 Mohammed Faruq
?/. - c.863C>T r.(?) p.(Ser288Phe) Unknown - VUS g.41838184G>A - TGFB1(NM_000660.4):c.863C>T (p.(Ser288Phe)) - TGFB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873G>A r.(?) p.(Lys291=) Unknown - likely benign g.41838174C>T - TGFB1(NM_000660.7):c.873G>A (p.K291=) - TGFB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.887G>A r.(?) p.(Arg296Gln) Parent #1 - VUS g.41838160C>T g.41332255C>T - - TGFB1_000006 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - DNA SEQ-NG-I blood - Healthy/Control - - gene panel study on controls - - United States - - - data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.887G>A r.(?) p.(Arg296Gln) Unknown - likely benign g.41838160C>T g.41332255C>T TGFB1(NM_000660.4):c.887G>A (p.(Arg296Gln)), TGFB1(NM_000660.7):c.887G>A (p.R296Q) - TGFB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887G>A r.(?) p.(Arg296Gln) Unknown - VUS g.41838160C>T - TGFB1(NM_000660.4):c.887G>A (p.(Arg296Gln)), TGFB1(NM_000660.7):c.887G>A (p.R296Q) - TGFB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972G>A r.(?) p.(Gly324=) Unknown - likely benign g.41838075C>T - TGFB1(NM_000660.7):c.972G>A (p.G324=) - TGFB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1010G>A r.(?) p.(Ser337Asn) Parent #1 ACMG VUS g.41838037C>T g.41332132C>T - - TGFB1_000014 variant in both affecteds PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat48,1 PubMed: Stray-Pedersen 2017 family, 2 affected M - Norway - - - - - 2 Johan den Dunnen
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