All variants in the TAB2 gene

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

110 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/. _1_9_ c.-421_*1892{0} r.0 p.0 - pathogenic (dominant) g.(?_149056337)_(151113208_?)del - 149056337-151113208del - TAB2_000045 - PubMed: Ritelli 2018 - - De novo - - - - - Johan den Dunnen
?/. - c.-100100A>G r.(?) p.(=) - VUS g.149539757A>G - TAB2(NM_001292035.3):c.-148-2A>G - TAB2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-680C>T r.(?) p.(=) - VUS g.149639177C>T - TAB2(NM_001292034.3):c.-90+26C>T - TAB2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-89-12623T>C r.(=) p.(=) - VUS g.149678422T>C g.149357286T>C - - TAB2_000004 - - - - Germline - - - - - Yu Sun
?/. - c.-89-12611C>G r.(=) p.(=) - VUS g.149678434C>G g.149357298C>G - - TAB2_000005 - - - - Germline - - - - - Yu Sun
-?/. - c.-89-12479A>C r.(=) p.(=) - likely benign g.149678566A>C - TAB2(NM_001292034.3):c.-89-12479A>C - TAB2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-89-8_-89-5dup r.spl? p.? - likely benign g.149691037_149691040dup - TAB2(NM_015093.6):c.-89-8_-89-5dupTTTC - TAB2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.(-89-12805_103-3935)_*1892{0} r.? p.? - pathogenic (dominant) g.(149678240_149695219)_qterdelins[NC_000002.11:g.(131691033_131705253)_qter)] - - t(2;6)(q21;q25) TAB2_000046 - PubMed: Thienpont 2010 - - Germline yes - - - - Johan den Dunnen
+/. _1_9_ c.-421_*1892{0} r.0 p.0 - pathogenic (dominant) g.(?_149580983)_(149861981_?)del - - - TAB2_000045 281 kb deletion incl. TAB2, SUMO4, ZC3H12D, PPIL4; FISH RP1-144O21 deleted PubMed: Weiss 2015 - - Germline yes - - - - Johan den Dunnen
+/. _1_9_ c.-421_*1892{0} r.0 p.0 - pathogenic (dominant) g.(?_149580983)_(149861981_?)del - - - TAB2_000045 281 kb deletion incl. TAB2, SUMO4, ZC3H12D, PPIL4; FISH RP1-144O21 deleted PubMed: Weiss 2015 - - Germline/De novo (untested) yes - - - - Johan den Dunnen
+/. _1_9_ c.-421_*1892{0} r.0 p.0 - pathogenic (dominant) g.(?_149580983)_(149861981_?)del - - - TAB2_000045 281 kb deletion incl. TAB2, SUMO4, ZC3H12D, PPIL4; FISH RP1-144O21 deleted PubMed: Weiss 2015 - - Germline yes - - - - Johan den Dunnen
?/. - c.25G>A r.(?) p.(Asp9Asn) - VUS g.149691158G>A - TAB2(NM_001369506.1):c.25G>A (p.D9N) - TAB2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.103-65A>G r.(=) p.(=) - likely benign g.149699089A>G - TAB2(NM_015093.6):c.103-65A>G - TAB2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.282A>G r.(?) p.(=) - likely benign g.149699333A>G - TAB2(NM_001292034.3):c.282A>G (p.(Gly94=)) - TAB2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.353A>G r.(?) p.(Asn118Ser) - likely benign g.149699404A>G - TAB2(NM_015093.4):c.353A>G (p.(Asn118Ser)) - TAB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.446C>G r.(?) p.(Ser149*) ACMG pathogenic (dominant) g.149699497C>G - C446G - TAB2_000048 ACMG PVS1, PM2, PP1, PP3, PP4 PubMed: Chen 2020 - - Germline yes - - - - Johan den Dunnen
?/. - c.566G>A r.(?) p.(Arg189His) - VUS g.149699617G>A - TAB2(NM_015093.4):c.566G>A (p.(Arg189His)) - TAB2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.619dup r.(?) p.(Ser207LysfsTer10) - likely pathogenic g.149699670dup g.149378534dup - - TAB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.619dup r.(?) p.(Ser207LysfsTer10) - pathogenic (dominant) g.149699670dup g.149378534dup - - TAB2_000019 linked to variant 610078 VKGL initiative Journal: Engwerda 2021 - - De novo - - - - - Aafke Engwerda
+/. 5 c.622C>T r.(?) p.(Pro208Ser) - pathogenic (dominant) g.149699673C>T g.149378537C>T - - TAB2_000001 - PubMed: Thienpont 2010 - - Germline/De novo (untested) - - - - - LOVD
?/. - c.641A>G r.(?) p.(Tyr214Cys) - VUS g.149699692A>G - TAB2(NM_001292034.2):c.641A>G (p.(Tyr214Cys)) - TAB2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.679C>T r.(?) p.(Arg227*) ACMG pathogenic g.149699730C>T g.149378594C>T - - TAB2_000044 - - VCV000561124.1 - Germline - - - - - Maria K Haanpää
+?/. - c.682C>T r.(?) p.(Gln228Ter) - likely pathogenic g.149699733C>T g.149378597C>T - - TAB2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.682C>T r.(?) p.(Gln228Ter) - pathogenic (dominant) g.149699733C>T g.149378597C>T - - TAB2_000020 linked to variant 610079 VKGL initiative; variant not maternal Journal: Engwerda 2021 - - Germline/De novo (untested) - - - - - Aafke Engwerda
+/. - c.688C>A r.(?) p.(Gln230Lys) - pathogenic (dominant) g.149699739C>A g.149378603C>A - - TAB2_000002 - PubMed: Thienpont 2010 - - Germline/De novo (untested) - - - - - LOVD
-?/. - c.725T>G r.(?) p.(Met242Arg) - likely benign g.149699776T>G - - - TAB2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4 c.731del r.(?) p.(Pro244Leufs*117) ACMG pathogenic (dominant) g.149699782del g.149378646del 731delC - TAB2_000038 - - - - Germline yes - - - - Lucia Micale
+?/. - c.733C>T r.(?) p.(Gln245Ter) - likely pathogenic g.149699784C>T g.149378648C>T TAB2(NM_015093.4):c.733C>T (p.(Gln245Ter)) - TAB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.774T>C r.(?) p.(Thr258=) - likely benign g.149699825T>C g.149378689T>C - - TAB2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.809C>G r.(?) p.(Ser270Cys) - likely benign g.149699860C>G - TAB2(NM_015093.4):c.809C>G (p.(Ser270Cys)) - TAB2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.853A>C r.(?) p.(Met285Leu) - VUS g.149699904A>C g.149378768A>C TAB2(NM_015093.6):c.853A>C (p.M285L) - TAB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.859A>G r.(?) p.(Ile287Val) - VUS g.149699910A>G - TAB2(NM_001292034.3):c.859A>G (p.(Ile287Val)), TAB2(NM_015093.5):c.859A>G (p.I287V) - TAB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.859A>G r.(?) p.(Ile287Val) - VUS g.149699910A>G - TAB2(NM_001292034.3):c.859A>G (p.(Ile287Val)), TAB2(NM_015093.5):c.859A>G (p.I287V) - TAB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.872_873del r.(?) p.(Thr291Asnfs*12) - pathogenic g.149699923_149699924del g.149378787_149378788del - - TAB2_000031 - - - - Unknown - - - - - IMGAG
+/. - c.885_886del r.(?) p.(Pro296AsnfsTer7) - pathogenic g.149699936_149699937del - TAB2(NM_015093.6):c.885_886delAC (p.P296Nfs*7) - TAB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.885_886del r.(?) p.(Pro296AsnfsTer7) - pathogenic (dominant) g.149699936_149699937del g.149378800_149378801del - - TAB2_000009 linked to variant 720715 VKGL initiative Journal: Engwerda 2021 - - Germline/De novo (untested) - - - - - Aafke Engwerda
+/. - c.885_886del r.(?) p.(Pro296AsnfsTer7) - pathogenic (dominant) g.149699936_149699937del g.149378800_149378801del - - TAB2_000009 linked to variant 720715 VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. - c.885_886del r.(?) p.(Pro296AsnfsTer7) - pathogenic (dominant) g.149699936_149699937del g.149378800_149378801del - - TAB2_000009 linked to variant 720715 VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. 4 c.889A>G r.(?) p.(Thr297Ala) ACMG pathogenic (dominant) g.149699940A>G - - - TAB2_000039 - - - - Germline yes - - - - Lucia Micale
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic g.149699950C>A g.149378814C>A TAB2(NM_015093.6):c.899C>A (p.S300*) - TAB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic g.149699950C>A - TAB2(NM_015093.6):c.899C>A (p.S300*) - TAB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic (dominant) g.149699950C>A g.149378814C>A - - TAB2_000010 linked to variants 348920/720716 (same family) VKGL initiative Journal: Engwerda 2021 - - Germline/De novo (untested) - - - - - Aafke Engwerda
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic (dominant) g.149699950C>A g.149378814C>A - - TAB2_000010 linked to variants 348920/720716 (same family) VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic (dominant) g.149699950C>A g.149378814C>A - - TAB2_000010 linked to variants 348920/720716 (same family) VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic (dominant) g.149699950C>A g.149378814C>A - - TAB2_000010 linked to variants 348920/720716 (same family) VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic (dominant) g.149699950C>A g.149378814C>A - - TAB2_000010 linked to variants 348920/720716 (same family) VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. - c.899C>A r.(?) p.(Ser300Ter) - pathogenic (dominant) g.149699950C>A g.149378814C>A - - TAB2_000010 linked to variants 348920/720716 (same family) VKGL initiative Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
?/. - c.972C>A r.(?) p.(Asn324Lys) - VUS g.149700023C>A - TAB2(NM_015093.6):c.972C>A (p.N324K) - TAB2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1077C>T r.(?) p.(Thr359=) - likely benign g.149700128C>T g.149378992C>T TAB2(NM_015093.5):c.1077C>T (p.T359=) - TAB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1121dup r.(?) p.(Asn375LysfsTer4) - VUS g.149700172dup g.149379036dup TAB2(NM_015093.4):c.1121dup (p.(Asn375LysfsTer4)) - TAB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1123A>G r.(?) p.(Asn375Asp) - VUS g.149700174A>G - TAB2(NM_015093.6):c.1123A>G (p.N375D) - TAB2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1127C>T r.(?) p.(Thr376Met) - VUS g.149700178C>T g.149379042C>T TAB2(NM_015093.5):c.1127C>T (p.T376M) - TAB2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1128G>A r.(?) p.(Thr376=) - benign g.149700179G>A g.149379043G>A TAB2(NM_001292034.3):c.1128G>A (p.(Thr376=)), TAB2(NM_015093.5):c.1128G>A (p.T376=) - TAB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1128G>A r.(?) p.(Thr376=) - likely benign g.149700179G>A g.149379043G>A TAB2(NM_001292034.3):c.1128G>A (p.(Thr376=)), TAB2(NM_015093.5):c.1128G>A (p.T376=) - TAB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1128G>A r.(?) p.(Thr376=) - likely benign g.149700179G>A - TAB2(NM_001292034.3):c.1128G>A (p.(Thr376=)), TAB2(NM_015093.5):c.1128G>A (p.T376=) - TAB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1155T>C r.(?) p.(Pro385=) - likely benign g.149700206T>C g.149379070T>C TAB2(NM_015093.5):c.1155T>C (p.P385=) - TAB2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1192G>A r.(?) p.(Glu398Lys) - VUS g.149700243G>A - TAB2(NM_015093.5):c.1192G>A (p.E398K) - TAB2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1227dup r.(?) p.(Ser410Ilefs*37) - pathogenic g.149700278dup - TAB2(NM_015093.6):c.1227dupA (p.S410Ifs*37) - SUMO4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1227dup r.(?) p.(Ser410IlefsTer37) - pathogenic (dominant) g.149700278dup g.149379142dup - - SUMO4_000005 linked to variant 720717 VKGL initiative (c.1227dup) Journal: Engwerda 2021 - - De novo - - - - - Aafke Engwerda
+/. - c.1227dup r.(?) p.(Ser410IlefsTer37) - pathogenic (dominant) g.149700278dup g.149379142dup - - SUMO4_000005 linked to variant 720717 VKGL initiative (c.1227dup) Journal: Engwerda 2021 - - Germline - - - - - Aafke Engwerda
+/. - c.1321C>T r.(?) p.(Arg441*) ACMG likely pathogenic (dominant) g.149700372C>T g.149379236C>T - - TAB2_000037 - - - - De novo - - - - - Bert Callewaert
+/. - c.1340_1341del r.(?) p.(Ser447CysfsTer25) - pathogenic g.149700391_149700392del - TAB2(NM_015093.5):c.1340_1341delCT (p.S447Cfs*25), TAB2(NM_015093.6):c.1340_1341delCT (p.S447Cfs*25) - TAB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1340_1341del r.(?) p.(Ser447CysfsTer25) - pathogenic g.149700391_149700392del - TAB2(NM_015093.5):c.1340_1341delCT (p.S447Cfs*25), TAB2(NM_015093.6):c.1340_1341delCT (p.S447Cfs*25) - TAB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1354C>T r.(?) p.(Arg452Ter) - likely pathogenic g.149700405C>T g.149379269C>T TAB2(NM_015093.6):c.1354C>T (p.R452*) - TAB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1354C>T r.(?) p.(Arg452*) - pathogenic (dominant) g.149700405C>T g.149379269C>T - - TAB2_000008 - - - - Germline ? - - - - Jeroen Breckpot
+?/. - c.1385dup r.(?) p.(Tyr462*) ACMG pathogenic (dominant) g.149700436dup g.149379300dup - - TAB2_000040 - - - - Germline/De novo (untested) yes - - - - Cecilia Giunta
+/. - c.1398dup r.1398dup p.Thr467Tyrfs*6 - pathogenic g.149700449dup g.149379313dup - - TAB2_000012 nonsense-mediated mRNA decay; truncated protein loses ability to bind TAK1, alteration TAK1 autophosphorylation status; patient fibroblasts display ECM disorganization and altered expression of selected ECM components and collagen-related pathways PubMed: Morlino 2019, PubMed: Ritelli 2018 - - Germline - - - - - Lucia Micale
+/. - c.1398dup r.(?) p.(Thr467Tyrfs*6) - pathogenic (dominant) g.149700449dup g.149379313dup - - TAB2_000012 - PubMed: Ritelli 2018 - - Germline yes - - - - Johan den Dunnen
+/. - c.1398dup r.(?) p.(Thr467Tyrfs*6) - pathogenic (dominant) g.149700449dup g.149379313dup - - TAB2_000012 - PubMed: Ritelli 2018 - - Germline yes - - - - Johan den Dunnen
+/. - c.1398dup r.(?) p.(Thr467Tyrfs*6) - pathogenic (dominant) g.149700449dup g.149379313dup - - TAB2_000012 - PubMed: Ritelli 2018 - - Germline yes - - - - Johan den Dunnen
+/. - c.1491T>A r.(?) p.(Tyr497*) ACMG pathogenic (dominant) g.149700542T>A g.149379406T>A - - TAB2_000047 ACMG PVS1, PS2, PS3 PubMed: Ackerman 2016 - - De novo - - - - - Johan den Dunnen
+?/. - c.1510C>T r.(?) p.(Gln504*) ACMG pathogenic (dominant) g.149700561C>T g.149379425C>T g.14969973C>T - TAB2_000036 - - - - Germline/De novo (untested) yes - - - - Cecilia Giunta
+?/. 4 c.1516del r.(?) p.(Leu506Serfs*6) ACMG pathogenic g.149700567del g.149379431del 1516delC - TAB2_000041 - - - - Germline yes - - - - Lucia Micale
-?/. - c.1537C>G r.(?) p.(His513Asp) - likely benign g.149700588C>G - TAB2(NM_015093.4):c.1537C>G (p.(His513Asp)) - TAB2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1603+7T>C r.(=) p.(=) - likely benign g.149700661T>C g.149379525T>C - - TAB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1619A>G r.(?) p.(Gln540Arg) - pathogenic g.149718755A>G g.149397619A>G - - TAB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 6 c.1636C>T r.(1636c>u) p.(Arg546Ter) - pathogenic g.149718772C>T g.149397636C>T - - TAB2_000030 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes 1/80 patients - - - Patrice Bouvagnet
+?/. 6 c.1636C>T r.(1636c>u) p.(Arg546Ter) - pathogenic g.149718772C>T g.149397636C>T - - TAB2_000030 - PubMed: Liu 2020, Journal: Liu 2020 - - De novo yes - - - - Patrice Bouvagnet
+?/. 6 c.1636C>T r.(1636c>u) p.(Arg546Ter) - pathogenic g.149718772C>T g.149397636C>T - - TAB2_000030 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes - - - - Patrice Bouvagnet
+?/. 6 c.1636C>T r.(1636c>u) p.(Arg546Ter) - pathogenic g.149718772C>T g.149397636C>T - - TAB2_000030 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes - - - - Patrice Bouvagnet
+/. - c.1636C>T r.(?) p.(Arg546*) - pathogenic g.149718772C>T - - - TAB2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1644A>G r.(?) p.(Gln548=) - likely benign g.149718780A>G g.149397644A>G - - TAB2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? - c.1705G>A r.(?) p.(Glu569Lys) - pathogenic g.149718841G>A g.149397705G>A - - TAB2_000007 curator: variant classified as VUS because its contribution to frontometaphyseal dysplasia has not been confirmed PubMed: Wade 2016, Journal: Wade 2016 - - De novo - - - - - Jamie Zeegers
?/. - c.1727G>A r.(?) p.(Arg576His) - VUS g.149718863G>A g.149397727G>A TAB2(NM_015093.4):c.1727G>A (p.(Arg576His)) - TAB2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1739C>T r.(?) p.(Ser580Leu) - VUS g.149718875C>T - TAB2(NM_015093.5):c.1739C>T (p.S580L) - TAB2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1764C>T r.(?) p.(=) - likely benign g.149718900C>T - TAB2(NM_015093.6):c.1764C>T (p.S588=) - TAB2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1765-3C>T r.spl? p.? - likely benign g.149719102C>T - TAB2(NM_015093.5):c.1765-3C>T - TAB2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1855C>T r.(?) p.(Arg619Ter) - likely pathogenic g.149719195C>T g.149398059C>T - - TAB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1855C>T r.(?) p.(Arg619Ter) - pathogenic (dominant) g.149719195C>T g.149398059C>T - - TAB2_000024 linked to variant 610084 VKGL initiative Journal: Engwerda 2021 - - De novo - - - - - Aafke Engwerda
?/. - c.1883T>A r.(?) p.(Ile628Asn) - VUS g.149720264T>A - TAB2(NM_015093.4):c.1883T>A (p.(Ile628Asn)) - TAB2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1926A>T r.(?) p.(Pro642=) - likely benign g.149720307A>T - TAB2(NM_015093.6):c.1926A>T (p.P642=) - TAB2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1939+278T>C r.(=) p.(=) - likely benign g.149720598T>C - TAB2(NM_015093.6):c.1939+278T>C - TAB2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1939+1209T>C r.(=) p.(=) - likely benign g.149721529T>C - SUMO4(NM_001002255.2):c.2T>C (p.(Met1?)) - TAB2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1939+1234A>C r.(=) p.(=) - likely benign g.149721554A>C - SUMO4(NM_001002255.2):c.27A>C (p.(Glu9Asp)) - TAB2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1939+1370G>A r.(=) p.(=) - VUS g.149721690G>A g.149400554G>A - - SUMO4_000002 - - - - Germline - - - - - Yu Sun
?/. - c.1939+1370G>A r.(=) p.(=) - VUS g.149721690G>A g.149400554G>A - - SUMO4_000002 - - - - Germline - - - - - Yu Sun
-/. - c.1939+1370G>A r.(=) p.(=) - benign g.149721690G>A g.149400554G>A SUMO4(NM_001002255.2):c.163G>A (p.V55M), TAB2(NM_015093.5):c.1939+1370G>A - SUMO4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1939+1370G>A r.(=) p.(=) - benign g.149721690G>A - SUMO4(NM_001002255.2):c.163G>A (p.V55M), TAB2(NM_015093.5):c.1939+1370G>A - SUMO4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1939+1478A>T r.(=) p.(=) - likely benign g.149721798A>T - - - TAB2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1939+1484G>C r.(=) p.(=) - likely benign g.149721804G>C - TAB2(NM_015093.6):c.1939+1484G>C - TAB2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.