All variants in the TGFBI gene

Information The variants shown are described using the NM_000358.2 transcript reference sequence.

317 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
./. - c.-11536221_*10318370dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
+?/+? - c.[1556delinsGAGG] r.(?) p.(val519delinsGlyGly) ACMG pathogenic g.136056673delinsGAGG g.136720984delinsGAGG - - TGFBI_000241 - - - - Germline yes - - 0 - Daniel Schorderet
-?/. - c.21G>A r.(?) p.(Leu7=) - likely benign g.135364765G>A g.136029076G>A TGFBI(NM_000358.2):c.21G>A (p.L7=) - TGFBI_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 c.100C>T r.(?) p.(=) - pathogenic g.135364844C>T g.136029155C>T - - TGFBI_000235 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 2 c.141C>T r.(?) p.(=) - pathogenic g.135369458C>T g.136033769C>T - - TGFBI_000234 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 2 c.156G>A r.(?) p.(=) - pathogenic g.135369473G>A g.136033784G>A - - TGFBI_000233 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 2 c.208C>A r.(?) p.(Gln70Lys) - pathogenic g.135369525C>A g.136033836C>A - - TGFBI_000228 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 2 c.216A>G r.(?) p.(=) - pathogenic g.135369533A>G g.136033844A>G - - TGFBI_000229 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 2 c.224G>A r.(?) p.(Gly75Asp) - pathogenic g.135369541G>A g.136033852G>A - - TGFBI_000230 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 3 c.240C>T r.(?) p.(=) - pathogenic g.135379753C>T g.136044064C>T - - TGFBI_000231 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 3 c.246C>T r.(?) p.(=) - pathogenic g.135379759C>T g.136044070C>T - - TGFBI_000232 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.294A>T r.(?) p.(=) - pathogenic g.135379807A>T g.136044118A>T - - TGFBI_000226 - PubMed: Korvatska et al. 1998 - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.310_311del r.(?) p.(Ser104Lysfs*27) - pathogenic g.135382035_135382036del g.136046346_136046347del c.309_310delCT - TGFBI_000227 - PubMed: Pang et al. 2002 - - Unknown 0 - - 0 - Daniel Schorderet
+/. 4 c.322G>A r.(?) p.(Glu108Lys) - pathogenic g.135382047G>A g.136046358G>A - - TGFBI_000220 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.327C>T r.(?) p.(=) - pathogenic g.135382052C>T g.136046363C>T - - TGFBI_000221 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.337G>A r.(?) p.(Val113Ile) - pathogenic g.135382062G>A g.136046373G>A - - TGFBI_000222 - PubMed: Zenteno et al. 2006 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.346A>G r.(?) p.(Thr116Ala) - pathogenic g.135382071A>G g.136046382A>G - - TGFBI_000223 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.362A>G r.(?) p.(Tyr121Cys) - pathogenic g.135382087A>G g.136046398A>G - - TGFBI_000224 - - - - Unknown ? - - 0 - Daniel Schorderet
?/. - c.365C>T r.(?) p.(Thr122Met) - VUS g.135382090C>T g.136046401C>T - - TGFBI_000240 - Papuc et al., submitted - rs780759366 De novo - - - 0 - Anaïs Begemann
+/. 4 c.367G>C r.(?) p.(Asp123His) - pathogenic g.135382092G>C g.136046403G>C - - TGFBI_000225 low penetrance PubMed: Ha et al. 2003 - - Unknown no - - 0 - Daniel Schorderet
+/. 4 c.367G>C r.(?) p.(Asp123His) - pathogenic g.135382092G>C g.136046403G>C - - TGFBI_000225 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.370C>A r.(?) p.(Arg124Ser) - pathogenic g.135382095C>A g.136046406C>A - - TGFBI_000198 - PubMed: Stewart et al. 1999B - - Unknown 0 - - 0 - Daniel Schorderet
+/. 4 c.370C>T r.(?) p.(Arg124Cys) - pathogenic g.135382095C>T g.136046406C>T - - TGFBI_000197 - PubMed: Munier et al. 1997 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.370C>T r.(?) p.(Arg124Cys) - pathogenic g.135382095C>T g.136046406C>T - - TGFBI_000197 high penetrance PubMed: Munier et al. 1997 - - Unknown 0 - - 0 - Daniel Schorderet
+/. 4 c.370C>T r.(?) p.(Arg124Cys) - pathogenic g.135382095C>T g.136046406C>T - - TGFBI_000197 - PubMed: Munier et al. 1997 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.370C>T r.(?) p.(Arg124Cys) - pathogenic g.135382095C>T g.136046406C>T - - TGFBI_000197 - PubMed: Munier et al. 1997 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 variable expressivity PubMed: Munier et al. 1997 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 - PubMed: Munier et al. 1997 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 - PubMed: Munier et al. 1997 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 - PubMed: Munier et al. 1997 - - Unknown 0 - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 - PubMed: Yamada et al.2009 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 - PubMed: Pang et al. 2002 - - Unknown 0 - - 0 - Daniel Schorderet
+/. 4 c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. - c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.371G>A r.(?) p.(Arg124His) - pathogenic g.135382096G>A g.136046407G>A - - TGFBI_000199 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909211 Germline - 4/2792 individuals - 0 - Mohammed Faruq
+/. 4 c.371G>T r.(?) p.(Arg124Leu) - pathogenic g.135382096G>T g.136046407G>T - - TGFBI_000200 complete penetrance PubMed: Dighiero et al. 2000 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>T r.(?) p.(Arg124Leu) - pathogenic g.135382096G>T g.136046407G>T - - TGFBI_000200 - PubMed: Okada et al. 1998 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.371G>T r.(?) p.(Arg124Leu) - pathogenic g.135382096G>T g.136046407G>T - - TGFBI_000200 - PubMed: Okada et al. 1998 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.374C>G r.(?) p.(Thr125Arg) - pathogenic g.135382099C>G g.136046410C>G - - TGFBI_000173 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.374C>T r.(?) p.(Thr125Met) - pathogenic g.135382099C>T g.136046410C>T - - TGFBI_000174 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.374_379del r.(?) p.(Thr125_Glu126del) - pathogenic g.135382099_135382104del g.136046410_136046415del c.373_378del - TGFBI_000201 complete penetrance PubMed: Dighiero et al. 2000 - - Unknown yes - - 0 - Daniel Schorderet
+/. 4 c.387G>A r.(?) p.(=) - pathogenic g.135382112G>A g.136046423G>A - - TGFBI_000124 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.393G>T r.(?) p.(Glu131Asp) - pathogenic g.135382118G>T g.136046429G>T - - TGFBI_000125 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.404C>T r.(?) p.(Pro135Leu) - pathogenic g.135382129C>T g.136046440C>T - - TGFBI_000126 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.405C>T r.(?) p.(=) - pathogenic g.135382130C>T g.136046441C>T - - TGFBI_000127 - PubMed: Korvatska et al. 1998 - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.419T>C r.(?) p.(Ile140Thr) - pathogenic g.135382144T>C g.136046455T>C - - TGFBI_000128 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.431G>A r.(?) p.(Ser144Asn) - pathogenic g.135382156G>A g.136046467G>A - - TGFBI_000129 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.446C>T r.(?) p.(Ala149Val) - pathogenic g.135382171C>T g.136046482C>T - - TGFBI_000130 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4 c.447C>G r.(?) p.(=) - pathogenic g.135382172C>G g.136046483C>G - - TGFBI_000131 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 4i c.459+19G>A r.(?) p.(=) - pathogenic g.135382203G>A g.136046514G>A IVS4+19G>A - TGFBI_000132 - PubMed: El-Ashry et al. 2005 - - Unknown ? - - 0 - Daniel Schorderet
+/. 4i c.460-16C>T r.(?) p.(=) - pathogenic g.135382524C>T g.136046835C>T IVS4-16T - TGFBI_000133 - PubMed: Korvatska et al. 1998 - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.486T>C r.(?) p.(=) - pathogenic g.135382566T>C g.136046877T>C - - TGFBI_000134 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.494T>C r.(?) p.(Ile165Thr) - pathogenic g.135382574T>C g.136046885T>C - - TGFBI_000135 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.496G>A r.(?) p.(Glu166Lys) - pathogenic g.135382576G>A g.136046887G>A - - TGFBI_000136 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.513C>T r.(?) p.(=) - pathogenic g.135382593C>T g.136046904C>T - - TGFBI_000137 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.514C>T r.(?) p.(Arg172Cys) - pathogenic g.135382594C>T g.136046905C>T - - TGFBI_000138 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.523A>G r.(?) p.(Met175Val) - pathogenic g.135382603A>G g.136046914A>G - - TGFBI_000139 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.536G>A r.(?) p.(Arg179Gln) - pathogenic g.135382616G>A g.136046927G>A - - TGFBI_000140 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.545C>T r.(?) p.(Thr182Ile) - pathogenic g.135382625C>T g.136046936C>T - - TGFBI_000141 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.561C>T r.(?) p.(=) - pathogenic g.135382641C>T g.136046952C>T - - TGFBI_000142 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.580A>G r.(?) p.(Met194Val) - pathogenic g.135382660A>G g.136046971A>G - - TGFBI_000143 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.585C>T r.(?) p.(=) - pathogenic g.135382665C>T g.136046976C>T - - TGFBI_000144 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.593C>T r.(?) p.(Ser198Phe) - pathogenic g.135382673C>T g.136046984C>T - - TGFBI_000145 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.596A>G r.(?) p.(Asn199Ser) - pathogenic g.135382676A>G g.136046987A>G - - TGFBI_000146 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.596A>T r.(?) p.(Asn199Ile) - pathogenic g.135382676A>T g.136046987A>T - - TGFBI_000147 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.621T>G r.(?) p.(Asn207Lys) - pathogenic g.135382701T>G g.136047012T>G - - TGFBI_000148 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 5 c.624G>T r.(?) p.(=) - pathogenic g.135382704G>T g.136047015G>T - - TGFBI_000175 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.630A>G r.(?) p.(=) - pathogenic g.135382968A>G g.136047279A>G - - TGFBI_000176 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.647G>A r.(?) p.(Arg216Gln) - pathogenic g.135382985G>A g.136047296G>A - - TGFBI_000177 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.647G>T r.(?) p.(Arg216Leu) - pathogenic g.135382985G>T g.136047296G>T - - TGFBI_000178 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.651G>C r.(?) p.(=) - pathogenic g.135382989G>C g.136047300G>C - - TGFBI_000149 - PubMed: Schmitt-Bernard et al. 2000B - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.651G>C r.(?) p.(=) - pathogenic g.135382989G>C g.136047300G>C - - TGFBI_000149 - - - - Unknown ? - - 0 - Daniel Schorderet
-/. - c.651G>C r.(?) p.(Leu217=) - benign g.135382989G>C g.136047300G>C TGFBI(NM_000358.2):c.651G>C (p.L217=) - TGFBI_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 6 c.668A>G r.(?) p.(His223Arg) - pathogenic g.135383006A>G g.136047317A>G - - TGFBI_000150 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.678C>T r.(?) p.(=) - pathogenic g.135383016C>T g.136047327C>T - - TGFBI_000151 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.680G>C r.(?) p.(Gly227Ala) - pathogenic g.135383018G>C g.136047329G>C - - TGFBI_000152 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.690C>T r.(?) p.(=) - pathogenic g.135383028C>T g.136047339C>T - - TGFBI_000153 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.696C>T r.(?) p.(=) - pathogenic g.135383034C>T g.136047345C>T - - TGFBI_000154 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.697G>A r.(?) p.(Asp233Asn) - pathogenic g.135383035G>A g.136047346G>A - - TGFBI_000155 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.713C>T r.(?) p.(Thr238Ile) - pathogenic g.135383051C>T g.136047362C>T - - TGFBI_000156 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.723C>T r.(?) p.(=) - pathogenic g.135383061C>T g.136047372C>T - - TGFBI_000157 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.739A>C r.(?) p.(Ile247Leu) - pathogenic g.135383077A>C g.136047388A>C - - TGFBI_000158 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.740T>C r.(?) p.(Ile247Thr) - pathogenic g.135383078T>C g.136047389T>C - - TGFBI_000159 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.745A>G r.(?) p.(Ile249Val) - pathogenic g.135383083A>G g.136047394A>G - - TGFBI_000160 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.747C>T r.(?) p.(=) - pathogenic g.135383085C>T g.136047396C>T - - TGFBI_000161 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.770G>A r.(?) p.(Arg257Gln) - pathogenic g.135383108G>A g.136047419G>A - - TGFBI_000162 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 6 c.771G>T r.(?) p.(=) - pathogenic g.135383109G>T g.136047420G>T - - TGFBI_000163 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.795C>T r.(?) p.(=) - pathogenic g.135385151C>T g.136049462C>T - - TGFBI_000164 - - - - Unknown ? - - 0 - Daniel Schorderet
?/. - c.798C>A r.(?) p.(Asn266Lys) - VUS g.135385154C>A g.136049465C>A TGFBI(NM_000358.2):c.798C>A (p.N266K) - TGFBI_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 c.801G>C r.(?) p.(=) - pathogenic g.135385157G>C g.136049468G>C - - TGFBI_000165 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.805C>T r.(?) p.(Leu269Phe) - pathogenic g.135385161C>T g.136049472C>T - - TGFBI_000166 - PubMed: Chakravarthi et al. 2005 - - Unknown ? - - 0 - Daniel Schorderet
-/. - c.805C>T r.(?) p.(Leu269Phe) - benign g.135385161C>T g.136049472C>T TGFBI(NM_000358.2):c.805C>T (p.L269F) - TGFBI_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 7 c.813T>C r.(?) p.(=) - pathogenic g.135385169T>C g.136049480T>C - - TGFBI_000167 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.815A>C r.(?) p.(Asn272Thr) - pathogenic g.135385171A>C g.136049482A>C - - TGFBI_000168 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.816C>T r.(?) p.(=) - pathogenic g.135385172C>T g.136049483C>T - - TGFBI_000169 - PubMed: Chakravarthi et al. 2005 - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.817G>A r.(?) p.(Gly273Ser) - pathogenic g.135385173G>A g.136049484G>A - - TGFBI_000170 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.828G>A r.(?) p.(=) - pathogenic g.135385184G>A g.136049495G>A - - TGFBI_000171 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.829C>G r.(?) p.(Leu277Val) - pathogenic g.135385185C>G g.136049496C>G - - TGFBI_000172 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.842C>A r.(?) p.(Thr281Asn) - pathogenic g.135385198C>A g.136049509C>A - - TGFBI_000179 - - - - Unknown ? - - 0 - Daniel Schorderet
+/. 7 c.852C>A r.(?) p.(=) - pathogenic g.135385208C>A g.136049519C>A - - TGFBI_000180 - PubMed: Korvatska et al. 1998 - - Unknown ? - - 0 - Daniel Schorderet
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