Unique variants in gene TGFB3

Information The variants shown are described using the NM_003239.2 transcript reference sequence.

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

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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.-4909C>G likely benign r.(?) p.(=) - g.76452145G>C - IFT43(NM_001102564.1):c.16G>C (p.(Asp6His)) - IFT43_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 1 c.-38del - r.(?) p.(=) - g.76447274del - -38delG - TGFB3_000001 - - - rs34262058 Germline - - - - - Paul van der Zwaag
+/+ 1 1 c.-30G>A - r.(?) p.(=) - g.76447266C>T - -36G>A - TGFB3_000002 Possible inhibitory effect PubMed: Pilichou 2006, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7508 - - Germline - - - - - Paul van der Zwaag
-/-, -/. 2 1 c.39C>T benign r.(?) p.(=) - g.76447198G>A - TGFB3(NM_001329939.1):c.39C>T (p.A13=) - TGFB3_000003 VKGL data sharing initiative Nederland - - rs11466415 Germline, CLASSIFICATION record - - - - - Paul van der Zwaag, VKGL-NL
?/. 1 - c.82A>C VUS r.(?) p.(Thr28Pro) - g.76447155T>G - TGFB3(NM_001329939.1):c.82A>C (p.T28P) - chr14_003776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 1 c.88T>C - r.(?) p.(=) - g.76447149A>G - - - TGFB3_000004 - - - rs3917145 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.96C>T likely benign r.(?) p.(=) - g.76447141G>A - TGFB3(NM_003239.2):c.96C>T (p.F32=) - TGFB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 1 c.170C>T - r.(?) p.(Pro57Leu) - g.76447067G>A - - - TGFB3_000005 - - - rs34019007 Germline - - - - - Paul van der Zwaag
+/. 1 - c.170dup pathogenic r.(?) p.(Glu58*) - g.76447072dup - TGFB3(NM_003239.2):c.170dupC (p.E58*) - TGFB3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.171del VUS r.(?) p.(Glu58Serfs*4) - g.76447066del - - - chr14_003775 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-, -?/. 2 1 c.179C>T likely benign r.(?) p.(Thr60Met) - g.76447058G>A - TGFB3(NM_003239.2):c.179C>T (p.T60M) - TGFB3_000006 VKGL data sharing initiative Nederland - - rs4252315 Germline, CLASSIFICATION record - - - - - Paul van der Zwaag, VKGL-NL
?/? 1 1 c.188C>A - r.(?) p.(Thr63Asn) - g.76447049G>T - - - TGFB3_000024 - unpublished, ARVD/C database 8371 - - Germline - - - - - Paul van der Zwaag
?/. 1 - c.196C>T VUS r.(?) p.(Pro66Ser) - g.76447041G>A - TGFB3(NM_003239.2):c.196C>T (p.P66S) - TGFB3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.232del pathogenic r.(?) p.(Glu78Serfs*33) - g.76447007del - TGFB3(NM_001329939.1):c.232delG (p.E78Sfs*33) - TGFB3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.275C>A VUS r.(?) p.(Thr92Asn) - g.76446962G>T - TGFB3(NM_003239.2):c.275C>A (p.T92N) - TGFB3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 3 - c.288C>T likely benign r.(?) p.(=) - g.76446949G>A - TGFB3(NM_003239.2):c.288C>T (p.T96=, p.=) - TGFB3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.293C>T VUS r.(?) p.(Ser98Leu) - g.76446944G>A - TGFB3(NM_003239.2):c.293C>T (p.S98L) - TGFB3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.324C>T likely benign r.(?) p.(=) - g.76446913G>A - TGFB3(NM_003239.2):c.324C>T (p.F108=) - TGFB3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.352+16C>T likely benign r.(=) p.(=) - g.76446869G>A - TGFB3(NM_003239.2):c.352+16C>T - TGFB3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.353-5C>T likely benign r.spl? p.? - g.76438066G>A - - - chr14_003774 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.354C>T likely benign r.(?) p.(=) - g.76438060G>A - TGFB3(NM_001329939.1):c.354C>T (p.N118=) - TGFB3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.389A>G VUS r.(?) p.(Lys130Arg) - g.76438025T>C - TGFB3(NM_003239.2):c.389A>G (p.K130R) - TGFB3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.412T>G VUS r.(?) p.(Ser138Ala) - g.76438002A>C - TGFB3(NM_003239.2):c.412T>G (p.S138A) - TGFB3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.471C>T likely benign r.(?) p.(=) - g.76437943G>A - TGFB3(NM_003239.2):c.471C>T (p.P157=) - TGFB3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 2i c.516+31C>T - r.(?) p.(=) - g.76437867G>A - - - TGFB3_000007 - - - rs3917174 Germline - - - - - Paul van der Zwaag
-/-, -/. 2 2i c.517-16T>C benign r.(?), r.(=) p.(=) - g.76437614A>G - TGFB3(NM_003239.2):c.517-16T>C - TGFB3_000008 VKGL data sharing initiative Nederland - - rs3917176 Germline, CLASSIFICATION record - - - - - Paul van der Zwaag, VKGL-NL
-/- 1 2i c.517-6C>G - r.(?) p.(=) - g.76437604G>C - - - TGFB3_000009 - - - rs45586636 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.558C>T likely benign r.(?) p.(=) - g.76437557G>A - TGFB3(NM_003239.2):c.558C>T (p.I186=) - TGFB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.559G>A VUS r.(?) p.(Gly187Ser) - g.76437556C>T - TGFB3(NM_003239.2):c.559G>A (p.G187S) - TGFB3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.591C>T likely benign r.(?) p.(=) - g.76437524G>A - TGFB3(NM_003239.2):c.591C>T (p.A197=) - TGFB3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 3i c.646+14_646+15insT - r.(?) p.(=) - g.76437454_76437455insA - - - TGFB3_000010 - - - rs35763256 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.647-98A>G - r.(?) p.(=) - g.76432136T>C - - - TGFB3_000011 - - - rs3917187 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.647-81del - r.(?) p.(=) - g.76432119del - 647-81delG - TGFB3_000012 - - - rs3917188 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.647-80del - r.(?) p.(=) - g.76432118del - 647-80delG - TGFB3_000013 - - - rs4252338 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.647-12C>G - r.(?) p.(=) - g.76432050G>C - - - TGFB3_000014 - - - rs61762490 Germline - - - - - Paul van der Zwaag
?/. 1 - c.683C>T VUS r.(?) p.(Pro228Leu) - g.76432002G>A - TGFB3(NM_003239.2):c.683C>T (p.P228L) - TGFB3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 3 - c.744C>A likely benign, benign r.(?) p.(=) - g.76431941G>T - TGFB3(NM_003239.2):c.744C>A (p.I248=) - TGFB3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/. 1 - c.754+2T>C pathogenic r.spl? p.? - g.76431929A>G - TGFB3(NM_003239.2):c.754+2T>C - TGFB3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 4i c.754+43_754+44insG - r.(?) p.(=) - g.76431887_76431888insC - - - TGFB3_000015 - - - rs34756930 Germline - - - - - Paul van der Zwaag
-/- 1 4i c.754+47T>G - r.(?) p.(=) - g.76431884A>C - - - TGFB3_000016 - - - rs61979179 Germline - - - - - Paul van der Zwaag
-/- 1 4i c.754+74C>A - r.(?) p.(=) - g.76431857G>T - - - TGFB3_000017 - - - rs3917189 Germline - - - - - Paul van der Zwaag
-/- 1 4i c.755-38T>C - r.(?) p.(=) - g.76429868A>G - - - TGFB3_000018 - - - rs3917200 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.757G>A likely benign r.(?) p.(Val253Met) - g.76429828C>T - TGFB3(NM_003239.2):c.757G>A (p.V253M) - TGFB3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.764A>G likely benign r.(?) p.(Asn255Ser) - g.76429821T>C - TGFB3(NM_003239.2):c.764A>G (p.N255S) - TGFB3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/. 2 - c.797G>A likely benign, VUS r.(?) p.(Arg266His) - g.76429788C>T - TGFB3(NM_003239.2):c.797G>A (p.R266H) - TGFB3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/., -?/. 2 - c.813G>C VUS, likely benign r.(?) p.(Lys271Asn) - g.76429772C>G - TGFB3(NM_003239.2):c.813G>C (p.K271N) - TGFB3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.873G>A VUS r.(?) p.(=) - g.76429712C>T - TGFB3(NM_003239.2):c.873G>A (p.P291=) - TGFB3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.898C>T ACMG: 5, pathogenic r.(?) p.(Arg300Trp) - g.76429687G>A g.75963344G>A TGFB3(NM_003239.2):c.898C>T (p.R300W) - TGFB3_000031 VKGL data sharing initiative Nederland Trujillano et al., submitted - - Germline, CLASSIFICATION record - - - - - Daniel Trujillano, VKGL-NL
+/. 2 - c.899G>A pathogenic r.(?) p.(Arg300Gln) - g.76429686C>T - TGFB3(NM_003239.2):c.899G>A (p.R300Q) - TGFB3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/- 1 5 c.912C>G - r.(?) p.(=) - g.76429673G>C - - - TGFB3_000019 - - - rs45606438 Germline - - - - - Paul van der Zwaag
?/. 1 - c.958C>T VUS r.(?) p.(Leu320Phe) - g.76427388G>A - TGFB3(NM_001329939.1):c.958C>T (p.L320F) - TGFB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.976C>T pathogenic r.(?) p.(Gln326*) - g.76427370G>A - TGFB3(NM_003239.2):c.976C>T (p.Q326*) - TGFB3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1075A>C likely pathogenic r.(?) p.(Ser359Arg) - g.76427271T>G - TGFB3(NM_003239.2):c.1075A>C (p.S359R) - TGFB3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1081-2A>T likely pathogenic r.spl? p.? - g.76425690T>A - TGFB3(NM_003239.2):c.1081-2A>T - TGFB3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-, -/. 2 7 c.1122C>G benign r.(?) p.(=) - g.76425647G>C - TGFB3(NM_003239.2):c.1122C>G (p.A374=) - TGFB3_000020 VKGL data sharing initiative Nederland - - rs4252345 Germline, CLASSIFICATION record - - - - - Paul van der Zwaag, VKGL-NL
?/. 1 - c.1175T>C VUS r.(?) p.(Val392Ala) - g.76425594A>G - TGFB3(NM_001329939.1):c.1175T>C (p.V392A) - TTLL5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1185C>T likely benign r.(?) p.(=) - g.76425584G>A - TGFB3(NM_003239.2):c.1185C>T (p.T395=) - chr14_003889 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1222T>G VUS r.(?) p.(Ser408Ala) - g.76425547A>C - TGFB3(NM_003239.2):c.1222T>G (p.S408A) - TGFB3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1230A>G likely benign r.(?) p.(=) - g.76425539T>C - TGFB3(NM_001329939.1):c.1230A>G (p.K410=) - chr14_003888 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 7 c.*8C>T - r.(?) p.(=) - g.76425522G>A - - - TGFB3_000021 - - - rs3917215 Germline - - - - - Paul van der Zwaag
-/- 1 7 c.*9G>A - r.(?) p.(=) - g.76425521C>T - - - TGFB3_000022 - - - rs4252346 Germline - - - - - Paul van der Zwaag
+/+, ?/. 2 7 c.*495C>T VUS r.(?), r.(=) p.(=) - g.76425035G>A - 1723C>T, TGFB3(NM_003239.2):c.*495C>T - TGFB3_000023 Predicted regulatory role, VKGL data sharing initiative Nederland PubMed: Basso, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7509 - - Germline, CLASSIFICATION record - - - - - Paul van der Zwaag, VKGL-NL
Legend