Unique variants in gene TGFB3

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

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-?/. 1 - c.-4909C>G r.(?) p.(=) - - likely benign g.76452145G>C g.75985802G>C IFT43(NM_001102564.1):c.16G>C (p.(Asp6His)) - IFT43_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/- 1 1 c.-38del r.(?) p.(=) - - benign g.76447275del g.75980932del -38delG - TGFB3_000001 - - - rs34262058 Germline - - - - - Paul van der Zwaag
+/+ 1 1 c.-30G>A r.(?) p.(=) - - pathogenic g.76447266C>T g.75980923C>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 r.(?) p.(=), p.(Ala13=) - - benign g.76447198G>A g.75980855G>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_Rotterdam
?/. 1 - c.82A>C r.(?) p.(Thr28Pro) - - VUS g.76447155T>G g.75980812T>G TGFB3(NM_001329939.1):c.82A>C (p.T28P) - IFT43_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 1 c.88T>C r.(?) p.(=) - - benign g.76447149A>G g.75980806A>G - - TGFB3_000004 - - - rs3917145 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.96C>T r.(?) p.(Phe32=) - - likely benign g.76447141G>A g.75980798G>A TGFB3(NM_003239.2):c.96C>T (p.F32=) - TGFB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 1 c.170C>T r.(?) p.(Pro57Leu) - - benign g.76447067G>A g.75980724G>A - - TGFB3_000005 - - - rs34019007 Germline - - - - - Paul van der Zwaag
+/. 1 - c.170dup r.(?) p.(Glu58Ter) - - pathogenic g.76447072dup g.75980729dup TGFB3(NM_003239.2):c.170dupC (p.E58*) - TGFB3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.171del r.(?) p.(Glu58SerfsTer4) - - VUS g.76447066del g.75980723del - - TGFB3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, -?/. 2 1 c.179C>T r.(?) p.(Thr60Met) - - benign, likely benign g.76447058G>A g.75980715G>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_Utrecht
?/? 1 1 c.188C>A r.(?) p.(Thr63Asn) - - VUS g.76447049G>T g.75980706G>T - - TGFB3_000024 - unpublished, ARVD/C database 8371 - - Germline - - - - - Paul van der Zwaag
?/. 1 - c.196C>T r.(?) p.(Pro66Ser) - - VUS g.76447041G>A g.75980698G>A TGFB3(NM_003239.2):c.196C>T (p.P66S) - TGFB3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.232del r.(?) p.(Glu78SerfsTer33) - - pathogenic g.76447007del g.75980664del TGFB3(NM_001329939.1):c.232delG (p.E78Sfs*33) - TGFB3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.275C>A r.(?) p.(Thr92Asn) - - VUS g.76446962G>T g.75980619G>T TGFB3(NM_003239.2):c.275C>A (p.T92N) - TGFB3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.288C>T r.(?) p.(Thr96=) - - likely benign g.76446949G>A g.75980606G>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 r.(?) p.(Ser98Leu) - - VUS g.76446944G>A g.75980601G>A TGFB3(NM_003239.2):c.293C>T (p.S98L) - TGFB3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.324C>T r.(?) p.(Phe108=) - - likely benign g.76446913G>A g.75980570G>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 r.(=) p.(=) - - likely benign g.76446869G>A g.75980526G>A TGFB3(NM_003239.2):c.352+16C>T - TGFB3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.353-129G>T r.(=) p.(=) - - likely benign g.76438190C>A g.75971847C>A TGFB3(NM_003239.2):c.353-129G>T - TGFB3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.353-5C>T r.spl? p.? - - likely benign g.76438066G>A g.75971723G>A - - TGFB3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.354C>T r.(?) p.(Asn118=) - - likely benign g.76438060G>A g.75971717G>A TGFB3(NM_001329939.1):c.354C>T (p.N118=) - TGFB3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.389A>G r.(?) p.(Lys130Arg) - - VUS g.76438025T>C g.75971682T>C TGFB3(NM_003239.2):c.389A>G (p.K130R) - TGFB3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.412T>G r.(?) p.(Ser138Ala) - - VUS g.76438002A>C g.75971659A>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 r.(?) p.(Pro157=) - - likely benign g.76437943G>A g.75971600G>A TGFB3(NM_003239.2):c.471C>T (p.P157=) - TGFB3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/- 1 2i c.516+31C>T r.(?) p.(=) - - benign g.76437867G>A g.75971524G>A - - TGFB3_000007 - - - rs3917174 Germline - - - - - Paul van der Zwaag
-/-, -/. 2 2i c.517-16T>C r.(?), r.(=) p.(=) - - benign g.76437614A>G g.75971271A>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_Utrecht
-/- 1 2i c.517-6C>G r.(?) p.(=) - - benign g.76437604G>C g.75971261G>C - - TGFB3_000009 - - - rs45586636 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.519C>T r.(?) p.(Ile173=) - - likely benign g.76437596G>A g.75971253G>A TGFB3(NM_003239.2):c.519C>T (p.I173=) - TGFB3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.558C>T r.(?) p.(Ile186=) - - likely benign g.76437557G>A g.75971214G>A TGFB3(NM_003239.2):c.558C>T (p.I186=) - TGFB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 1 - c.559G>A r.(?) p.(Gly187Ser) - - VUS g.76437556C>T g.75971213C>T TGFB3(NM_003239.2):c.559G>A (p.G187S) - TGFB3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.591C>T r.(?) p.(Ala197=) - - likely benign g.76437524G>A g.75971181G>A TGFB3(NM_003239.2):c.591C>T (p.A197=) - TGFB3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/- 1 3i c.646+14dup r.(=) p.(=) - - benign g.76437456dup g.75971113dup - - TGFB3_000010 - - - rs35763256 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.647-98A>G r.(?) p.(=) - - benign g.76432136T>C g.75965793T>C - - TGFB3_000011 - - - rs3917187 Germline - - - - - Paul van der Zwaag
-/- 2 3i c.647-80del r.(=), r.(?) p.(=) - - benign g.76432119del g.75965776del 647-81delG, 647-80delG - TGFB3_000012, TGFB3_000013 - - - rs3917188, rs4252338 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.647-12C>G r.(?) p.(=) - - benign g.76432050G>C g.75965707G>C - - TGFB3_000014 - - - rs61762490 Germline - - - - - Paul van der Zwaag
?/. 1 - c.683C>T r.(?) p.(Pro228Leu) - - VUS g.76432002G>A g.75965659G>A TGFB3(NM_003239.2):c.683C>T (p.P228L) - TGFB3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., -/. 3 - c.744C>A r.(?) p.(Ile248=) - - likely benign, benign g.76431941G>T g.75965598G>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 r.spl? p.? - - pathogenic g.76431929A>G g.75965586A>G TGFB3(NM_003239.2):c.754+2T>C - TGFB3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 4i c.754+43dup r.(=) p.(=) - - benign g.76431894dup g.75965551dup - - TGFB3_000015 - - - rs34756930 Germline - - - - - Paul van der Zwaag
-/- 1 4i c.754+47T>G r.(?) p.(=) - - benign g.76431884A>C g.75965541A>C - - TGFB3_000016 - - - rs61979179 Germline - - - - - Paul van der Zwaag
-/- 1 4i c.754+74C>A r.(?) p.(=) - - benign g.76431857G>T g.75965514G>T - - TGFB3_000017 - - - rs3917189 Germline - - - - - Paul van der Zwaag
-/- 1 4i c.755-38T>C r.(?) p.(=) - - benign g.76429868A>G g.75963525A>G - - TGFB3_000018 - - - rs3917200 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.757G>A r.(?) p.(Val253Met) - - likely benign g.76429828C>T g.75963485C>T TGFB3(NM_003239.2):c.757G>A (p.V253M) - TGFB3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.764A>G r.(?) p.(Asn255Ser) - - likely benign g.76429821T>C g.75963478T>C TGFB3(NM_003239.2):c.764A>G (p.N255S) - TGFB3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.797G>A r.(?) p.(Arg266His) - - likely benign, VUS g.76429788C>T g.75963445C>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 r.(?) p.(Lys271Asn) - - VUS, likely benign g.76429772C>G g.75963429C>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 r.(?) p.(Pro291=) - - VUS g.76429712C>T g.75963369C>T TGFB3(NM_003239.2):c.873G>A (p.P291=) - TGFB3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 - c.898C>T r.(?) p.(Arg300Trp) - ACMG pathogenic 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_VUmc
+/. 2 - c.899G>A r.(?) p.(Arg300Gln) - - pathogenic g.76429686C>T g.75963343C>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.(=) - - benign g.76429673G>C g.75963330G>C - - TGFB3_000019 - - - rs45606438 Germline - - - - - Paul van der Zwaag
?/. 1 - c.958C>T r.(?) p.(Leu320Phe) - - VUS g.76427388G>A g.75961045G>A TGFB3(NM_001329939.1):c.958C>T (p.L320F) - TGFB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.976C>T r.(?) p.(Gln326Ter) - - pathogenic g.76427370G>A g.75961027G>A TGFB3(NM_003239.2):c.976C>T (p.Q326*) - TGFB3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1075A>C r.(?) p.(Ser359Arg) - - likely pathogenic g.76427271T>G g.75960928T>G TGFB3(NM_003239.2):c.1075A>C (p.S359R) - TGFB3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.1081-2A>T r.spl? p.? - - likely pathogenic g.76425690T>A g.75959347T>A TGFB3(NM_003239.2):c.1081-2A>T - TGFB3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-, -/. 2 7 c.1122C>G r.(?) p.(=), p.(Ala374=) - - benign g.76425647G>C g.75959304G>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_VUmc
?/. 1 - c.1175T>C r.(?) p.(Val392Ala) - - VUS g.76425594A>G g.75959251A>G TGFB3(NM_001329939.1):c.1175T>C (p.V392A) - TTLL5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1185C>T r.(?) p.(Thr395=) - - likely benign g.76425584G>A g.75959241G>A TGFB3(NM_003239.2):c.1185C>T (p.T395=) - TTLL5_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1222T>G r.(?) p.(Ser408Ala) - - VUS g.76425547A>C g.75959204A>C TGFB3(NM_003239.2):c.1222T>G (p.S408A) - TGFB3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1230A>G r.(?) p.(Lys410=) - - likely benign g.76425539T>C g.75959196T>C TGFB3(NM_001329939.1):c.1230A>G (p.K410=) - TTLL5_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 7 c.*8C>T r.(?) p.(=) - - benign g.76425522G>A g.75959179G>A - - TGFB3_000021 - - - rs3917215 Germline - - - - - Paul van der Zwaag
-/- 1 7 c.*9G>A r.(?) p.(=) - - benign g.76425521C>T g.75959178C>T - - TGFB3_000022 - - - rs4252346 Germline - - - - - Paul van der Zwaag
+/+, ?/. 2 7 c.*495C>T r.(?), r.(=) p.(=) - - pathogenic, VUS g.76425035G>A g.75958692G>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_Utrecht
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