Unique variants in gene TGFBR1

Information The variants shown are described using the NM_004612.2 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.11C>T likely benign r.(?) p.(Ala4Val) g.101867498C>T - TGFBR1(NM_004612.3):c.11C>T (p.A4V) - TGFBR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.15C>T likely benign r.(?) p.(=) g.101867502C>T - TGFBR1(NM_004612.3):c.15C>T (p.V5=) - TGFBR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./., ?/., -/. 3 - c.70_78del VUS, benign r.(?) p.(Ala24_Ala26del) g.101867557_101867565del g.99105275_99105283del NM_004612.2(TGFBR1):c.70_78del p.(Ala24_Ala26del), 1 more item - TGFBR1_000006, TGFBR1_000010 variant could not be associated with disease phenotype, VKGL data sharing initiative Nederland PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline, CLASSIFICATION record - - - - - Marjolijn JL Ligtenberg, VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.76_78del benign r.(?) p.(Ala26del) g.101867563_101867565del - TGFBR1(NM_004612.3):c.76_78delGCG (p.A26del) - TGFBR1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.76_78dup likely benign r.(?) p.(Ala26dup) g.101867563_101867565dup - TGFBR1(NM_004612.3):c.76_78dupGCG (p.A26dup) - TGFBR1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Nijmegen
-?/. 1 - c.92C>A likely benign r.(?) p.(Ala31Glu) g.101867579C>A - TGFBR1(NM_001130916.1):c.92C>A (p.(Ala31Glu)) - TGFBR1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.98-67dup VUS r.(=) p.(=) g.101891070dup - TGFBR1(NM_004612.3):c.98-67dupG - TGFBR1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.98-66T>C benign r.(=) p.(=) g.101891071T>C - TGFBR1(NM_004612.3):c.98-66T>C - TGFBR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.120C>T likely benign r.(?) p.(=) g.101891159C>T - TGFBR1(NM_001306210.1):c.120C>T (p.L40=) - TGFBR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.121T>A VUS r.(?) p.(Cys41Ser) g.101891160T>A - TGFBR1(NM_001306210.1):c.121T>A (p.C41S) - TGFBR1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.134A>G VUS r.(?) p.(Asn45Ser) g.101891173A>G - TGFBR1(NM_004612.3):c.134A>G (p.N45S) - TGFBR1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.143G>A VUS r.(?) p.(Cys48Tyr) g.101891182G>A - TGFBR1(NM_001306210.1):c.143G>A (p.C48Y) - TGFBR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.207C>T VUS, likely benign r.(?) p.(=) g.101891246C>T - TGFBR1(NM_004612.3):c.207C>T (p.S69=) - TGFBR1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.214A>T likely benign r.(?) p.(Ile72Leu) g.101891253A>T - TGFBR1(NM_001130916.1):c.214A>T (p.(Ile72Leu)) - TGFBR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.343+1G>A pathogenic r.spl? p.? g.101891383G>A - TGFBR1(NM_004612.3):c.343+1G>A - TGFBR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.415A>G - r.(?) p.(Ile139Val) g.101894862A>G g.99132580A>G - - TGFBR1_000002 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.451C>T VUS r.(?) p.(Arg151Cys) g.101894898C>T - TGFBR1(NM_001306210.1):c.463C>T (p.R155C) - TGFBR1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ./. 3 - c.457G>A likely benign r.(?) p.(Val153Ile) g.101894904G>A g.99132622G>A TGFBR1(NM_004612.3):c.457G>A (p.V153I) - TGFBR1_000003 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Melissa DeRycke, VKGL-NL_VUmc
?/. 1 - c.469C>T VUS r.(?) p.(Arg157*) g.101894916C>T - - - TGFBR1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.508T>G VUS r.(?) p.(Phe170Val) g.101894955T>G - TGFBR1(NM_004612.3):c.508T>G (p.F170V) - TGFBR1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 3 - c.528G>A likely benign r.(?) p.(=) g.101894975G>A - TGFBR1(NM_001306210.1):c.540G>A (p.T180=), TGFBR1(NM_004612.3):c.528G>A (p.T176=) - TGFBR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.556A>G VUS r.(?) p.(Thr186Ala) g.101895003A>G - TGFBR1(NM_001130916.1):c.343+3621A>G (p.(=)) - TGFBR1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.605C>T likely pathogenic r.(?) p.(Ala202Val) g.101900171C>T - TGFBR1(NM_004612.3):c.605C>T (p.A202V) - TGFBR1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.648T>G likely pathogenic r.(?) p.(Phe216Leu) g.101900214T>G - TGFBR1(NM_004612.3):c.648T>G (p.F216L) - TGFBR1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.650G>T ACMG: 5 (dominant) r.(650g>u) p.(Gly217Val) g.101900216G>T - - - TGFBR1_000042 - PubMed: Camerota 2019, Journal: Camerota 2019 - - Germline - - - - - Marco Ritelli
+/. 1 4 c.693_699delinsC ACMG: 5 (dominant) r.(693_699delinsc) p.(Lys232_Ile233del) g.101900259_101900265delinsC - - - TGFBR1_000043 - PubMed: Camerota 2019, Journal: Camerota 2019 - - Germline - - - - - Marco Ritelli
+/. 1 4 c.705_707del ACMG: 5 (dominant) r.(705_707del) p.(Ser236del) g.101900271_101900273del - - - TGFBR1_000044 This patient has an affected daugther carrying the same variant. PubMed: Camerota 2019, Journal: Camerota 2019 ClinVar-RCV000618279.1 rs863223830 Germline yes - - - - Marco Ritelli
+?/. 1 - c.722C>T likely pathogenic r.(?) p.(Ser241Leu) g.101900288C>T - TGFBR1(NM_004612.3):c.722C>T (p.S241L) - TGFBR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.734A>G - r.(?) p.(Glu245Gly) g.101900300A>G g.99138018A>G Glu245Gly - TGFBR1_000001 - PubMed: Carmignac 2014, Journal: Carmignac 2014 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.788T>C - r.(?) p.(Ile263Thr) g.101900354T>C - - - TGFBR1_000038 this variant has pathogenic tendency - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. 1 - c.790G>A VUS r.(?) p.(Ala264Thr) g.101900356G>A - TGFBR1(NM_004612.3):c.790G>A (p.A264T) - TGFBR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.805+3C>T likely benign r.spl? p.? g.101900374C>T - - - TGFBR1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.806-23G>A likely benign r.(=) p.(=) g.101904795G>A - TGFBR1(NM_004612.3):c.806-23G>A - TGFBR1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.810T>C likely benign r.(?) p.(=) g.101904822T>C - TGFBR1(NM_004612.3):c.810T>C (p.N270=) - TGFBR1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 5 c.812G>A ACMG: 5 (dominant) r.(812g>a) p.(Gly271Asp) g.101904824G>A - - - TGFBR1_000045 - PubMed: Camerota 2019, Journal: Camerota 2019 - - Germline yes - - - - Marco Ritelli
?/. 1 - c.906G>C VUS r.(?) p.(Met302Ile) g.101904918G>C - TGFBR1(NM_001130916.1):c.675G>C (p.(Met225Ile)) - TGFBR1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.923C>T VUS r.(?) p.(Ser308Phe) g.101904935C>T - TGFBR1(NM_004612.3):c.923C>T (p.S308F) - TGFBR1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.927G>C likely benign r.(?) p.(=) g.101904939G>C - TGFBR1(NM_004612.3):c.927G>C (p.T309=) - TGFBR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 1 - c.958A>G VUS r.(?) p.(Ile320Val) g.101904970A>G - TGFBR1(NM_004612.3):c.958A>G (p.I320V) - TGFBR1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.961G>A VUS r.(?) p.(Val321Ile) g.101904973G>A - TGFBR1(NM_004612.3):c.961G>A (p.V321I) - TGFBR1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 5i c.973+1G>A - r.[806_973del, 965_974del] p.[Asp269_Gln324del, Thr323_Gly325del] g.101904986G>A - 42575G>A - TGFBR1_000007 - - - - Germline yes - - - - Norifumi Takeda
-?/. 1 - c.1008A>C likely benign r.(?) p.(=) g.101907048A>C - TGFBR1(NM_004612.3):c.1008A>C (p.S336=) - TGFBR1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1012A>G likely pathogenic r.(?) p.(Asn338Asp) g.101907052A>G - TGFBR1(NM_004612.3):c.1012A>G (p.N338D) - TGFBR1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1022T>C VUS r.(?) p.(Val341Ala) g.101907062T>C - TGFBR1(NM_001306210.1):c.1034T>C (p.V345A) - TGFBR1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1051G>T pathogenic r.(?) p.(Asp351Tyr) g.101907091G>T - TGFBR1(NM_004612.3):c.1051G>T (p.D351Y) - TGFBR1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 6 c.1052A>T ACMG: 5 (dominant) r.(1052a>u) p.(Asp351Val) g.101907092A>T - - - TGFBR1_000046 This is a sporadic patient (de novo mutation verified) PubMed: Camerota 2019, Journal: Camerota 2019 - - De novo ? - - - - Marco Ritelli
+/. 1 6 c.1057G>C ACMG: 5 (dominant) r.(1057g>c) p.(Gly353Arg) g.101907097G>C - - - TGFBR1_000048 This is a sporadic patient (de novo mutation verified). PubMed: Camerota 2019, Journal: Camerota 2019 - - De novo - - - - - Marco Ritelli
+/. 1 - c.1113_1114del pathogenic r.(?) p.(His371Glnfs*11) g.101907153_101907154del - TGFBR1(NM_004612.3):c.1113_1114delCA (p.H371Qfs*11) - TGFBR1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 6 c.1120G>A ACMG: 5 (dominant) r.(1120g>a) p.(Gly374Arg) g.101907160G>A - - - TGFBR1_000041 The patient has an affected sister carrying the same variant. PubMed: Camerota 2019, Journal: Camerota 2019 - - Germline yes - - - - Marco Ritelli
-?/. 2 - c.1125A>C likely benign r.(?) p.(=) g.101907165A>C - TGFBR1(NM_001130916.1):c.894A>C (p.(=)), TGFBR1(NM_004612.3):c.1125A>C (p.T375=) - TGFBR1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 6 c.1126A>G - r.(?) p.(Lys376Glu) g.101907166A>G - - - TGFBR1_000035 - - - - De novo - - - - - Hironori Hara
?/. 1 - c.1138G>C VUS r.(?) p.(Ala380Pro) g.101908774G>C - TGFBR1(NM_001306210.1):c.1150G>C (p.A384P) - TGFBR1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1152C>T likely benign r.(?) p.(=) g.101908788C>T - TGFBR1(NM_004612.3):c.1152C>T (p.L384=) - TGFBR1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 7 c.1199A>G ACMG: 5 (dominant) r.(1199a>g) p.(Asp400Gly) g.101908835A>G - - - TGFBR1_000040 This is a sporadic patient (de novo mutation verified). PubMed: Camerota 2019, Journal: Camerota 2019 ClinVar-RCV000013346.24 rs121918711 De novo - - - - - Marco Ritelli
?/. 1 - c.1205A>G VUS r.(?) p.(Tyr402Cys) g.101908841A>G - TGFBR1(NM_004612.3):c.1205A>G (p.Y402C) - TGFBR1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 7 c.1225T>G ACMG: 4 r.(?) p.(Trp409Gly) g.101908861T>G - - - TGFBR1_000039 - PubMed: Laterza 2019 - - Germline ? - - - - Marco Ritelli
./. 1 - c.1237C>T - r.(?) p.(Arg413*) g.101908873C>T g.99146591C>T - - TGFBR1_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 - c.1240C>T pathogenic r.(?) p.(Arg414*) g.101908876C>T - TGFBR1(NM_004612.3):c.1240C>T (p.R414*) - TGFBR1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1255+2T>C likely pathogenic r.spl? p.? g.101908893T>C - TGFBR1(NM_004612.3):c.1255+2T>C - TGFBR1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1255+24G>A benign r.(=) p.(=) g.101908915G>A - TGFBR1(NM_004612.3):c.1255+24G>A - TGFBR1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/. 1 - c.1256-109dup benign r.(=) p.(=) g.101909827dup - TGFBR1(NM_004612.3):c.1256-109dupA - TGFBR1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1386+90_1386+94del benign r.(=) p.(=) g.101910156_101910160del - TGFBR1(NM_004612.3):c.1386+90_1386+94delTCTTT - TGFBR1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1387-14dup likely benign r.(=) p.(=) g.101911448dup - TGFBR1(NM_004612.3):c.1387-14dupA - TGFBR1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/., ./. 6 - c.1433A>G VUS, likely benign r.(?) p.(Asn478Ser) g.101911508A>G g.99149226A>G TGFBR1(NM_001130916.1):c.1202A>G (p.(Asn401Ser)), TGFBR1(NM_004612.3):c.1433A>G (p.N478S) - TGFBR1_000005 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_VUmc, Melissa DeRycke, VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+?/. 1 - c.1448T>C likely pathogenic r.(?) p.(Leu483Pro) g.101911523T>C - - - TGFBR1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 9 c.1460G>A pathogenic, ACMG: 5 (dominant) r.(?), r.(1460g>a) p.(Arg487Gln) g.101911535G>A - TGFBR1(NM_004612.3):c.1460G>A (p.R487Q) - TGFBR1_000047 VKGL data sharing initiative Nederland, This is a sporadic patient (de novo mutation verified). PubMed: Camerota 2019, Journal: Camerota 2019 ClinVar-RCV000013351.27 rs113605875 CLASSIFICATION record, De novo - - - - - VKGL-NL, Marco Ritelli
-?/. 2 - c.1497A>G likely benign r.(?) p.(=) g.101911572A>G - TGFBR1(NM_001306210.1):c.1509A>G (p.E503=), TGFBR1(NM_004612.3):c.1497A>G (p.E499=) - TGFBR1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1508T>C likely benign r.(?) p.(Met503Thr) g.101911583T>C - TGFBR1(NM_004612.3):c.1508T>C (p.M503T) - TGFBR1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*69A>G benign r.(=) p.(=) g.101911656A>G - TGFBR1(NM_004612.3):c.*69A>G - TGFBR1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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