All variants in the TNXB gene

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_019105.6 transcript reference sequence.

723 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

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.(?_-1)_(1571_1847)del r.(?) p.(?) deletion, multi exon - ACMG pathogenic (recessive) g.(32063985_32064261)_(32065976_?)del - - - TNXB_000393 - - - - Germline - - - - - Tomoki Kosho
?/. - c.? r.(?) p.(Pro2490Arg) - - - VUS g.? - - - TNXB_000000 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.? r.? p.? - - - pathogenic g.(?_31982572)_(32009447_?)del - 30kb deletion - TNXB_000000 deletion 21-hydroxylase gene (CYP21A2) and partial duplication TNXB, resulting in a nonfunctional fusion gene PubMed: Burch 1997 - - Germline - - - - - Johan den Dunnen
+/. - c.? r.? p.? - - - pathogenic g.(?_31982572)_(32009447_?)del - 30kb deletion - TNXB_000000 no variant 2nd chromosome found PubMed: Schalkwijk 2001 - - Germline - - - - - Johan den Dunnen
+/. - c.? r.? p.? - - - pathogenic (recessive) g.(?_31982572)_(32009447_?)del - 30kb deletion - TNXB_000000 - PubMed: Schalkwijk 2001 - - Germline - - - - - Johan den Dunnen
+/. - c.? r.? p.? - - - pathogenic (recessive) g.(?_31982572)_(32009447_?)del - 30kb deletion - TNXB_000000 - PubMed: Colman 2021, Journal: Colman 2021 - - Germline - - - - - Johan den Dunnen
?/. - c.85C>T r.(?) p.(Arg29Trp) - - - VUS g.32065891G>A g.32098114G>A TNXB(NM_019105.8):c.85C>T (p.R29W) - TNXB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 2 c.85C>T r.(?) p.(Arg29Trp) missense substitution - likely pathogenic g.32065891G>A - - - TNXB_000012 - PubMed: Zweers et al., 2005 - rs368512272 Unknown - - - - - Raymond Dalgleish
-?/. - c.86G>A r.(?) p.(Arg29Gln) - - - likely benign g.32065890C>T g.32098113C>T TNXB(NM_019105.6):c.86G>A (p.(Arg29Gln)), TNXB(NM_019105.8):c.86G>A (p.R29Q) - TNXB_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.86G>A r.(?) p.(Arg29Gln) - - - VUS g.32065890C>T g.32098113C>T TNXB(NM_019105.6):c.86G>A (p.(Arg29Gln)), TNXB(NM_019105.8):c.86G>A (p.R29Q) - TNXB_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.107C>A r.(?) p.(Ala36Asp) - - - likely benign g.32065869G>T g.32098092G>T TNXB(NM_019105.8):c.107C>A (p.A36D) - TNXB_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 2 c.107_108delinsA r.(?) p.(Ala36Aspfs*68) nonsense delins - pathogenic g.32065868_32065869delinsT - - - TNXB_000034 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - Raymond Dalgleish
+/. - c.112del r.(?) p.(Arg38GlyfsTer66) - - - pathogenic g.32065869del g.32098092del TNXB(NM_019105.8):c.112delC (p.R38Gfs*66) - TNXB_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.113G>A r.(?) p.(Arg38Gln) - - - likely benign g.32065863C>T - TNXB(NM_019105.8):c.113G>A (p.R38Q) - TNXB_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.197G>C r.(?) p.(Gly66Ala) - - - likely benign g.32065779C>G - TNXB(NM_019105.8):c.197G>C (p.G66A) - TNXB_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.211G>T r.(?) p.(Val71Leu) - - - likely benign g.32065765C>A g.32097988C>A TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L) - TNXB_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.211G>T r.(?) p.(Val71Leu) - - - VUS g.32065765C>A - TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L) - TNXB_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.211G>T r.(?) p.(Val71Leu) - - - likely benign g.32065765C>A - TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L) - TNXB_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.211G>T r.(?) p.(Val71Leu) - - - VUS g.32065765C>A - TNXB(NM_019105.6):c.211G>T (p.V71L, p.(Val71Leu)), TNXB(NM_019105.8):c.211G>T (p.V71L) - TNXB_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.411A>G r.(?) p.(Thr137=) - - - likely benign g.32065219T>C g.32097442T>C TNXB(NM_019105.8):c.411A>G (p.T137=) - TNXB_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.517G>A r.(?) p.(Ala173Thr) - - - benign g.32065113C>T g.32097336C>T TNXB(NM_019105.8):c.517G>A (p.A173T) - TNXB_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.549C>T r.(?) p.(Ala183=) - - - likely benign g.32065081G>A - TNXB(NM_019105.8):c.549C>T (p.A183=) - TNXB_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.563C>T r.(?) p.(Pro188Leu) - - - VUS g.32065067G>A g.32097290G>A - - TNXB_000309 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.605dup r.(?) p.(Cys202TrpfsTer59) - - - VUS g.32065025dup g.32097248dup TNXB(NM_019105.6):c.605dupG (p.C202Wfs*59) - TNXB_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.607G>A r.(?) p.(Val203Met) - - - benign g.32065023C>T g.32097246C>T TNXB(NM_019105.8):c.607G>A (p.V203M) - TNXB_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.618C>T r.(?) p.(Pro206=) - - - likely benign g.32065012G>A - TNXB(NM_019105.8):c.618C>T (p.P206=) - TNXB_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.658G>A r.(?) p.(Gly220Arg) - - - VUS g.32064972C>T g.32097195C>T - - TNXB_000267 - - - rs778734003 Germline - - - - - Andreas Laner
-?/. - c.675T>C r.(?) p.(Arg225=) - - - likely benign g.32064955A>G - TNXB(NM_019105.8):c.675T>C (p.R225=) - TNXB_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.903del r.(?) p.(Tyr301Ter) - - - pathogenic g.32064727del g.32096950del TNXB(NM_019105.8):c.903delC (p.Y301*) - TNXB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+? 3 c.903del r.(?) p.(Tyr301*) nonsense deletion - likely pathogenic g.32064727del - - - TNXB_000031 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - Raymond Dalgleish
-/. - c.904A>G r.(?) p.(Thr302Ala) - - - benign g.32064726T>C g.32096949T>C TNXB(NM_019105.8):c.904A>G (p.T302A) - TNXB_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.904A>G r.(?) p.(Thr302Ala) - - - benign g.32064726T>C - TNXB(NM_019105.8):c.904A>G (p.T302A) - TNXB_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.909C>G r.(?) p.(Gly303=) - - - likely benign g.32064721G>C g.32096944G>C TNXB(NM_019105.8):c.909C>G (p.G303=) - TNXB_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.909C>G r.(?) p.(Gly303=) - - - likely benign g.32064721G>C - TNXB(NM_019105.8):c.909C>G (p.G303=) - TNXB_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.939G>T r.(?) p.(Arg313=) - - - likely benign g.32064691C>A g.32096914C>A TNXB(NM_019105.6):c.939G>T (p.R313=) - TNXB_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.959G>T r.(?) p.(Arg320Leu) - - - VUS g.32064671C>A - TNXB(NM_019105.8):c.959G>T (p.R320L) - TNXB_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1058T>A r.(?) p.(Val353Glu) - - - VUS g.32064572A>T g.32096795A>T TNXB(NM_019105.8):c.1058T>A (p.V353E) - TNXB_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1083C>G r.(?) p.(Pro361=) - - - likely benign g.32064547G>C g.32096770G>C TNXB(NM_019105.8):c.1083C>G (p.P361=) - TNXB_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1092A>T r.(?) p.(Thr364=) - - - likely benign g.32064538T>A g.32096761T>A TNXB(NM_019105.8):c.1092A>T (p.T364=) - TNXB_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 3 c.1150dup r.(?) p.(Glu384Glyfs*57) - - - pathogenic g.32064480dup g.32096703dup 1150dupG - TNXB_000024 - - - - Germline - - - - - Lucia Micale
+/+? 3 c.1150dup r.(?) p.(Glu384Glyfs*57) nonsense duplication - likely pathogenic g.32064480dup - - - TNXB_000024 - PubMed: Micale et al., 2019 - - Unknown - - - - - Raymond Dalgleish
?/. - c.1259T>A r.(?) p.(Val420Glu) - - - VUS g.32064371A>T - TNXB(NM_019105.6):c.1259T>A (p.V420E) - TNXB_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1259T>C r.(?) p.(Val420Ala) - - - VUS g.32064371A>G g.32096594A>G TNXB(NM_019105.6):c.1259T>C (p.(Val420Ala)) - TNXB_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1302C>G r.(?) p.(Ala434=) - - - likely benign g.32064328G>C g.32096551G>C TNXB(NM_019105.8):c.1302C>G (p.A434=) - TNXB_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1302C>G r.(?) p.(Ala434=) - - - likely benign g.32064328G>C - TNXB(NM_019105.8):c.1302C>G (p.A434=) - TNXB_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1385G>A r.(?) p.(Gly462Asp) - - - VUS g.32064245C>T - TNXB(NM_019105.6):c.1385G>A (p.(Gly462Asp)) - TNXB_000440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1469G>A r.(?) p.(Arg490Gln) - - - benign g.32064161C>T g.32096384C>T TNXB(NM_019105.8):c.1469G>A (p.R490Q) - TNXB_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1532G>A r.(?) p.(Arg511His) - - - benign g.32064098C>T g.32096321C>T TNXB(NM_019105.8):c.1532G>A (p.R511H) - TNXB_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1650_1651del r.(?) p.(Glu552Argfs*41) deletion - ACMG pathogenic (recessive) g.32063979_32063980del g.32096202_32096203del - - TNXB_000392 - - - - Germline - - - - - Tomoki Kosho
-?/. - c.1671C>T r.(?) p.(Arg557=) - - - likely benign g.32063959G>A g.32096182G>A TNXB(NM_019105.8):c.1671C>T (p.R557=) - TNXB_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1671C>T r.(?) p.(Arg557=) - - - likely benign g.32063959G>A - TNXB(NM_019105.8):c.1671C>T (p.R557=) - TNXB_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1734C>T r.(?) p.(Asp578=) - - - benign g.32063896G>A g.32096119G>A TNXB(NM_019105.8):c.1734C>T (p.D578=) - TNXB_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1734C>T r.(=) p.(=) - - - benign g.32063896G>A g.32096119G>A - - TNXB_000164 93 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41270458 Germline - 93/2795 individuals - - - Mohammed Faruq
-/. - c.1734C>T r.(=) p.(=) - - - benign g.32063896G>A g.32096119G>A - - TNXB_000164 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41270458 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. - c.1739A>G r.(?) p.(Tyr580Cys) - - - VUS g.32063891T>C g.32096114T>C TNXB(NM_019105.6):c.1739A>G (p.Y580C) - TNXB_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1751A>T r.(?) p.(Asp584Val) - - - VUS g.32063879T>A g.32096102T>A TNXB(NM_019105.6):c.1751A>T (p.D584V, p.(Asp584Val)) - TNXB_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1751A>T r.(?) p.(Asp584Val) - - - likely benign g.32063879T>A - TNXB(NM_019105.6):c.1751A>T (p.D584V, p.(Asp584Val)) - TNXB_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1837A>G r.(?) p.(Ser613Gly) - - - benign g.32063793T>C g.32096016T>C TNXB(NM_019105.8):c.1837A>G (p.S613G) - TNXB_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1949G>A r.(?) p.(Arg650His) - - - benign g.32063681C>T g.32095904C>T TNXB(NM_019105.8):c.1949G>A (p.R650H) - TNXB_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1965C>G r.(?) p.(Asp655Glu) - - - likely benign g.32063665G>C - TNXB(NM_019105.8):c.1965C>G (p.D655E) - TNXB_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2030A>G r.(?) p.(Asp677Gly) - - - likely benign g.32063600T>C g.32095823T>C TNXB(NM_019105.6):c.2030A>G (p.D677G), TNXB(NM_019105.8):c.2030A>G (p.D677G) - TNXB_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2030A>G r.(?) p.(Asp677Gly) - - - likely benign g.32063600T>C g.32095823T>C TNXB(NM_019105.6):c.2030A>G (p.D677G), TNXB(NM_019105.8):c.2030A>G (p.D677G) - TNXB_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2030A>G r.(?) p.(Asp677Gly) - - - VUS g.32063600T>C g.32095823T>C - - TNXB_000160 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141190850 Germline - 23/2795 individuals - - - Mohammed Faruq
-?/. - c.2030A>G r.(?) p.(Asp677Gly) - - - likely benign g.32063600T>C g.32095823T>C TNXB(NM_019105.6):c.2030A>G (p.D677G), TNXB(NM_019105.8):c.2030A>G (p.D677G) - TNXB_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 3 c.2116_2117dup r.(?) p.(Glu707*) frameshift duplication - pathogenic (recessive) g.32063523_32063524dup g.32095746_32095747dup insGT - TNXB_000002 - PubMed: Schalkwijk et al., 2001 - - Germline/De novo (untested) - - - - - Raymond Dalgleish
-?/. - c.2170C>T r.(?) p.(Arg724Cys) - - - likely benign g.32063460G>A g.32095683G>A TNXB(NM_019105.8):c.2170C>T (p.R724C) - TNXB_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2170C>T r.(?) p.(Arg724Cys) - - - likely benign g.32063460G>A - TNXB(NM_019105.8):c.2170C>T (p.R724C) - TNXB_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2242+18C>G r.(=) p.(=) - - - benign g.32063370G>C - TNXB(NM_019105.8):c.2242+18C>G - TNXB_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2279T>G r.(?) p.(Leu760Trp) - - - VUS g.32062932A>C - TNXB(NM_019105.6):c.2279T>G (p.L760W) - TNXB_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 5-6 c.(2358+1_2359-1)_(2779+1_2780-1)del r.(?) p.(Thr787Glyfs*40) - - - pathogenic g.(32053896_32056561)_(32057157_32062852)del g.(32086119_32088784)_(32089380_32095075)del 2359_2779del - TNXB_000254 - - - - Unknown - - - - - Lucia Micale
+/+ 5-6 c.(2358+1_2359-1)_(2779+1_2780-1)del r.(?) p.(Thr787Glyfs*40) nonsense deletion - pathogenic g.? - - - TNXB_000023 - PubMed: Micale et al., 2019 - - Unknown - - - - - Raymond Dalgleish
-?/. - c.2366G>A r.(?) p.(Gly789Glu) - - - likely benign g.32057149C>T g.32089372C>T TNXB(NM_001365276.2):c.2366G>A (p.(Gly789Glu)), TNXB(NM_019105.8):c.2366G>A (p.G789E) - TNXB_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2366G>A r.(?) p.(Gly789Glu) - - - VUS g.32057149C>T g.32089372C>T TNXB(NM_001365276.2):c.2366G>A (p.(Gly789Glu)), TNXB(NM_019105.8):c.2366G>A (p.G789E) - TNXB_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2366G>A r.(?) p.(Gly789Glu) - - - likely benign g.32057149C>T - TNXB(NM_001365276.2):c.2366G>A (p.(Gly789Glu)), TNXB(NM_019105.8):c.2366G>A (p.G789E) - TNXB_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2367G>A r.(?) p.(Gly789=) - - - benign g.32057148C>T g.32089371C>T TNXB(NM_019105.8):c.2367G>A (p.G789=) - TNXB_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2373C>T r.(?) p.(Ser791=) - - - likely benign g.32057142G>A g.32089365G>A TNXB(NM_019105.8):c.2373C>T (p.S791=) - TNXB_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2373C>T r.(?) p.(Ser791=) - - - likely benign g.32057142G>A - TNXB(NM_019105.8):c.2373C>T (p.S791=) - TNXB_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2385A>G r.(?) p.(Thr795=) - - - benign g.32057130T>C - TNXB(NM_019105.8):c.2385A>G (p.T795=) - TNXB_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2385A>G r.(?) p.(Thr795=) - - - likely benign g.32057130T>C - TNXB(NM_019105.8):c.2385A>G (p.T795=) - TNXB_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2461C>T r.(?) p.(Arg821Ter) - - - pathogenic g.32057054G>A g.32089277G>A TNXB(NM_019105.6):c.2461C>T (p.R821*), TNXB(NM_019105.8):c.2461C>T (p.R821*) - TNXB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2461C>T r.(?) p.(Arg821Ter) - - - pathogenic g.32057054G>A g.32089277G>A TNXB(NM_019105.6):c.2461C>T (p.R821*), TNXB(NM_019105.8):c.2461C>T (p.R821*) - TNXB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 5 c.2461C>T r.(?) p.(Arg821*) nonsense substitution - likely pathogenic g.32057054G>A - - - TNXB_000033 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - Raymond Dalgleish
+?/. - c.2461C>T r.(?) p.(Arg821*) - - ACMG pathogenic g.32057054G>A g.32089277G>A - - TNXB_000033 - - 373424 - Unknown - 0.002 controls - - - Johan den Dunnen
?/. - c.2485G>A r.(?) p.(Gly829Ser) - - - VUS g.32057030C>T g.32089253C>T TNXB(NM_001365276.2):c.2485G>A (p.(Gly829Ser)), TNXB(NM_019105.6):c.2485G>A (p.G829S), TNXB(NM_019105.8):c.2485G>A (p.G829S) - TNXB_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2485G>A r.(?) p.(Gly829Ser) - - - VUS g.32057030C>T - TNXB(NM_001365276.2):c.2485G>A (p.(Gly829Ser)), TNXB(NM_019105.6):c.2485G>A (p.G829S), TNXB(NM_019105.8):c.2485G>A (p.G829S) - TNXB_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2485G>A r.(?) p.(Gly829Ser) - - - likely benign g.32057030C>T - TNXB(NM_001365276.2):c.2485G>A (p.(Gly829Ser)), TNXB(NM_019105.6):c.2485G>A (p.G829S), TNXB(NM_019105.8):c.2485G>A (p.G829S) - TNXB_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/-? 6 c.2531A>G r.(?) p.(Gln844Arg) missense substitution - VUS g.32056810T>C - - - TNXB_000009 - - - - Unknown - - - - - James Bertz
+/+ 6 c.2539C>T r.(?) p.(Arg847*) nonsense substitution - pathogenic g.32056802G>A - - - TNXB_000005 - PubMed: Sakiyama et al., 2015 - - Unknown - - - - - Raymond Dalgleish
+/. - c.2590C>T r.(?) p.(Gln864Ter) - - - pathogenic g.32056751G>A g.32088974G>A TNXB(NM_019105.8):c.2590C>T (p.Q864*) - TNXB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2590C>T r.(?) p.(Gln864Ter) - - - pathogenic g.32056751G>A g.32088974G>A TNXB(NM_019105.8):c.2590C>T (p.Q864*) - TNXB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 6 c.2590C>T r.(?) p.(Gln864*) nonsense substitution - likely pathogenic g.32056751G>A - - - TNXB_000030 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - Raymond Dalgleish
+?/+? 6 c.2590C>T r.(?) p.(Gln864*) nonsense substitution - likely pathogenic g.32056751G>A - - - TNXB_000030 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - Raymond Dalgleish
?/. - c.2632G>A r.(?) p.(Gly878Ser) - - - VUS g.32056709C>T - TNXB(NM_019105.6):c.2632G>A (p.(Gly878Ser)) - TNXB_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 6 c.2633G>A r.(?) p.(Gly878Asp) missense substitution - likely pathogenic g.32056708C>T - - - TNXB_000037 - PubMed: Tokhmafshan et al., 2020 - - Unknown - - - - - Raymond Dalgleish
?/. - c.2633G>A r.(?) p.(Gly878Asp) - - - VUS g.32056708C>T - TNXB(NM_001365276.2):c.2633G>A (p.(Gly878Asp)), TNXB(NM_019105.6):c.2633G>A (p.G878D) - TNXB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2633G>A r.(?) p.(Gly878Asp) - - - VUS g.32056708C>T - TNXB(NM_001365276.2):c.2633G>A (p.(Gly878Asp)), TNXB(NM_019105.6):c.2633G>A (p.G878D) - TNXB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2716G>T r.(?) p.(Val906Leu) - - - likely benign g.32056625C>A - TNXB(NM_019105.8):c.2716G>T (p.V906L) - TNXB_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2761T>G r.(?) p.(Ser921Ala) - - - benign g.32056580A>C g.32088803A>C TNXB(NM_019105.8):c.2761T>G (p.S921A) - TNXB_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.2779+863C>A r.(=) p.(=) - - - benign g.32055699G>T - - - TNXB_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2783C>A r.(?) p.(Ser928Tyr) - - - VUS g.32053892G>T g.32086115G>T TNXB(NM_019105.8):c.2783C>A (p.S928Y) - TNXB_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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