Full data view for gene TUBB

Information The variants shown are described using the NM_178014.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.43C>A r.(?) p.(Gln15Lys) Parent #1 - pathogenic g.30688326C>A g.30720549C>A - - TUBB_000001 - PubMed: Isrie 2015, Journal: Isrie 2015, OMIM:var0004 - rs864321676 De novo - - - - - DNA SEQ, SEQ-NG-I - - CSCSC1 26637975-PatM3 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - no Canada - >15y - - - 1 Jamie Zeegers
+/. 1 c.43C>A r.(?) p.(Gln15Lys) Parent #1 - pathogenic g.30688326C>A g.30720549C>A - - TUBB_000001 - PubMed: Isrie 2015, Journal: Isrie 2015, OMIM:var0004 - rs864321676 De novo - - - - - DNA SEQ, SEQ-NG-I - - CSCSC1 26637975-Pat11 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - no Norway - >05y06m - - - 1 Jamie Zeegers
-?/. - c.58-587A>G r.(=) p.(=) Unknown - likely benign g.30689727A>G - TUBB(NM_001293212.1):c.72A>G (p.Q24=) - MDC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58-576C>T r.(=) p.(=) Unknown - VUS g.30689738C>T - TUBB(NM_001293212.2):c.83C>T (p.(Thr28Ile)) - MDC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61T>G r.(?) p.(Trp21Gly) Unknown - pathogenic g.30690317T>G - - - MDC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.91G>A r.(?) p.(Asp31Asn) Unknown - likely pathogenic g.30690347G>A - - - MDC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166+5G>A r.spl? p.? Unknown - likely benign g.30690427G>A g.30722650G>A TUBB(NM_178014.2):c.166+5G>A (p.?) - MDC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.208C>T r.(?) p.(Pro70Ser) Unknown - likely pathogenic g.30690736C>T g.30722959C>T - - FLOT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.277+11C>T r.(=) p.(=) Parent #1 - benign g.30690816C>T g.30723039C>T - - TUBB_000005 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs25526 Germline - 10/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
+?/. - c.361C>T r.(?) p.(Arg121Trp) Unknown - likely pathogenic g.30691200C>T g.30723423C>T TUBB(NM_178014.2):c.361C>T (p.(Arg121Trp)) - FLOT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.361C>T r.(?) p.(Arg121Trp) Paternal (confirmed) - pathogenic (dominant) g.30691200C>T g.30723423C>T - - FLOT1_000003 - PubMed: Nissenkorn 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MRMV Fam2Pat5 PubMed: Nissenkorn 2021 family, affected father/2 daughters F - Israel - - - - - 3 Johan den Dunnen
+/. - c.361C>T r.(?) p.(Arg121Trp) Unknown - pathogenic (dominant) g.30691200C>T g.30723423C>T - - FLOT1_000003 - PubMed: Nissenkorn 2021 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - WES MRMV Fam3Pat6 PubMed: Nissenkorn 2021 father M - Israel - - - - - 1 Johan den Dunnen
+/. - c.361C>T r.(?) p.(Arg121Trp) Paternal (confirmed) - pathogenic (dominant) g.30691200C>T g.30723423C>T - - FLOT1_000003 - PubMed: Nissenkorn 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MRMV Fam3Pat7 PubMed: Nissenkorn 2021 sister F - Israel - - - - - 1 Johan den Dunnen
?/. - c.365A>C r.(?) p.(Lys122Thr) Unknown - VUS g.30691204A>C - TUBB(NM_178014.4):c.365A>C (p.(Lys122Thr)) - FLOT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>A r.(?) p.(Cys129Tyr) Unknown - VUS g.30691225G>A - TUBB(NM_178014.2):c.386G>A (p.(Cys129Tyr)) - FLOT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.651G>A r.(=) p.(=) Parent #1 - benign g.30691490G>A g.30723713G>A - - TUBB_000006 165 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs25497 Germline - 165/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 165 Mohammed Faruq
?/. - c.656C>T r.(?) p.(Thr219Ile) Unknown - VUS g.30691495C>T g.30723718C>T TUBB(NM_178014.3):c.656C>T (p.T219I) - TUBB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.665A>T r.(?) p.(Tyr222Phe) Parent #1 - pathogenic g.30691504A>T g.30723727A>T - - TUBB_000002 - PubMed: Isrie 2015, Journal: Isrie 2015, OMIM:var0005 - rs864321677 De novo - - - - - DNA SEQ, SEQ-NG-I - - CSCSC1 26637975-Pat15 PubMed: Isrie 2015, Journal: Isrie 2015 2-generation family, 1 affected, unaffected non-carrier parents - yes Turkey - >00y18m - - - 1 Jamie Zeegers
?/. - c.860C>G r.(?) p.(Pro287Arg) Unknown - VUS g.30691699C>G g.30723922C>G TUBB(NM_178014.3):c.860C>G (p.P287R) - TUBB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.860C>T r.(?) p.(Pro287Leu) Unknown - likely pathogenic (dominant) g.30691699C>T g.30723922C>T NM_001293212.1:c.920C>T (P307L) - TUBB_000008 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? CONGÉ-043 PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
+?/. - c.869C>T r.(?) p.(Thr290Ile) Unknown - likely pathogenic g.30691708C>T - - - FLOT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.890A>C r.(?) p.(Lys297Thr) Unknown - likely benign g.30691729A>C - TUBB(NM_178014.2):c.890A>C (p.(Lys297Thr)) - FLOT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.895A>G r.(?) p.(Met299Val) Unknown - likely pathogenic g.30691734A>G - - - FLOT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925C>T r.(?) p.(Arg309Ter) Unknown - VUS g.30691764C>T - - - TUBB_000007 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1200C>T r.(?) p.(Gly400=) Unknown - VUS g.30692039C>T - TUBB(NM_001293212.1):c.1260C>T (p.G420=) - FLOT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.30692133G>A - TUBB(NM_178014.4):c.1294G>A (p.(Glu432Lys)) - FLOT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1302G>T r.(?) p.(Glu434Asp) Unknown - VUS g.30692141G>T - TUBB(NM_178014.4):c.1302G>T (p.(Glu434Asp)) - FLOT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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