Full data view for gene TUBA1A

Information The variants shown are described using the NM_006009.3 transcript reference sequence.

271 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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     
+?/. - c.3+3del r.0 p.0 Unknown - likely pathogenic (dominant) g.49582757del g.49188974del - - TUBA1A_000178 RNA analysis suggests alternative transcription initiation PubMed: Bournazos 2022 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood, fibroblasts singleton WES ? A100 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
-?/. - c.4-7C>T r.(=) p.(=) Unknown - likely benign g.49580623G>A g.49186840G>A TUBA1A(NM_001270399.1):c.4-7C>T - TUBA1A_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.4C>A r.(?) p.(Arg2Ser) Unknown ACMG pathogenic g.49580616G>T g.49186833G>T - - TUBA1A_000149 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P89815 Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/. - c.5G>A r.(?) p.(Arg2His) Unknown - pathogenic g.49580615C>T g.49186832C>T TUBA1A(NM_006009.3):c.5G>A (p.R2H) - TUBA1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.5G>A r.(?) p.(Arg2His) Unknown ACMG likely pathogenic g.49580615C>T g.49186832C>T - - TUBA1A_000020 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. - c.5G>A r.(?) p.(Arg2His) Unknown - likely pathogenic g.49580615C>T g.49186832C>T - - TUBA1A_000020 - PubMed: Srivastava 2014 - - De novo - - - - - DNA SEQ-NG - WES ? Pat12 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.5G>A r.(?) p.(Arg2His) Unknown - pathogenic (dominant) g.49580615C>T g.49186832C>T - - TUBA1A_000020 - PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 - - De novo - - - - - DNA SEQ-NG - - microcephaly Pat24;Pat30 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient M no Belgium - - - - - 1 Johan den Dunnen
+?/+? 2 c.13A>C r.(?) p.(Ile5Leu) Unknown ACMG likely pathogenic g.49580607T>G g.49186824T>G - - TUBA1A_000148 identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111 Journal: Hebebrand 2018, PubMed: Jansen 2011 - - Germline yes - - - - DNA SEQ-NG - - LIS3 21403111-family 2 patient 1 Journal: Hebebrand 2018, PubMed: Jansen 2011 source reviewed F yes Morocco - - - - - 1 Moritz Hebebrand
+?/+? 2 c.13A>C r.(?) p.(Ile5Leu) Unknown ACMG likely pathogenic g.49580607T>G g.49186824T>G - - TUBA1A_000148 identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111 Journal: Hebebrand 2018, PubMed: Jansen 2011 - - Germline yes - - - - DNA SEQ-NG - - LIS3 21403111-family 2 patient 2 Journal: Hebebrand 2018, PubMed: Jansen 2011 source reviewed F yes Morocco - - - - - 1 Moritz Hebebrand
+?/+? 2 c.13A>C r.(?) p.(Ile5Leu) Unknown ACMG likely pathogenic g.49580607T>G g.49186824T>G - - TUBA1A_000148 identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111 Journal: Hebebrand 2018, PubMed: Jansen 2011 - - Germline yes - - - - DNA SEQ-NG - - LIS3 21403111-family 2 patient 3 Journal: Hebebrand 2018, PubMed: Jansen 2011 source reviewed F ? Morocco - - - - - 1 Moritz Hebebrand
+?/+? 2 c.17C>G r.(?) p.(Ser6Cys) Unknown ACMG likely pathogenic g.49580603G>C g.49186820G>C - - TUBA1A_000147 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. - c.26T>C r.(?) p.(Val9Ala) Unknown - likely pathogenic g.49580594A>G - TUBA1A(NM_006009.3):c.26T>C (p.(Val9Ala)) - TUBA1A_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.47T>C r.(?) p.(Ile16Thr) Unknown - likely pathogenic g.49580573A>G g.49186790A>G TUBA1A(NM_001270399.2):c.47T>C (p.I16T) - TUBA1A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.53A>G r.(?) p.(Asn18Ser) Unknown ACMG likely pathogenic g.49580567T>C g.49186784T>C - - TUBA1A_000144 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. - c.55G>A r.(?) p.(Ala19Thr) Unknown - likely pathogenic (dominant) g.49580565C>T g.49186782C>T - - TUBA1A_000187 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 51-155-PES PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
+/+ 2 c.74G>T r.(?) p.(Cys25Phe) Unknown ACMG pathogenic g.49580546C>A g.49186763C>A - - TUBA1A_000143 identified_by: Yokoi Sci Rep, 2015 Pubmed_ID: 26493046 Journal: Hebebrand 2018, PubMed: Yokoi 2015 - - Germline yes - - - - DNA SEQ-NG - - LIS3 26493046-K3373 Journal: Hebebrand 2018, PubMed: Yokoi 2015 source reviewed M no - - - - - - 1 Moritz Hebebrand
-?/. - c.78G>A r.(?) p.(Leu26=) Unknown - likely benign g.49580542C>T g.49186759C>T - - TUBA1A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.78G>A r.78G>A p.Leu26= Unknown - likely benign g.49580542C>T g.49186759C>T - - TUBA1A_000158 no effect on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+/+ 2 c.79G>C r.(?) p.(Glu27Gln) Unknown ACMG pathogenic g.49580541C>G g.49186758C>G - - TUBA1A_000142 identified_by: Shimojima BMC Res Notes, 2014 Pubmed_ID: 25053001 Journal: Hebebrand 2018, PubMed: Shimojima 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 25053001-Pat Journal: Hebebrand 2018, PubMed: Shimojima 2014 source reviewed F ? Japan - - - - - 1 Moritz Hebebrand
+?/+? 2 c.82C>T r.(?) p.(His28Tyr) Unknown ACMG likely pathogenic g.49580538G>A g.49186755G>A - - TUBA1A_000141 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
-?/. - c.84C>T r.(?) p.(His28=) Unknown - likely benign g.49580536G>A g.49186753G>A TUBA1A(NM_001270399.1):c.84C>T (p.H28=) - TUBA1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.85G>C r.(?) p.(Gly29Arg) Unknown - likely pathogenic g.49580535C>G - TUBA1A(NM_006009.4):c.85G>C (p.(Gly29Arg)) - TUBA1A_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.90C>G r.(?) p.(Ile30Met) Unknown - likely pathogenic g.49580530G>C g.49186747G>C - - TUBA1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.139G>C r.(?) p.(Asp47His) Unknown ACMG likely pathogenic g.49580481C>G g.49186698C>G - - TUBA1A_000140 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. - c.140A>G r.(?) p.(Asp47Gly) Unknown - likely pathogenic g.49580480T>C g.49186697T>C - - TUBA1A_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.152C>T r.(?) p.(Thr51Ile) Unknown ACMG likely pathogenic g.49580468G>A g.49186685G>A - - TUBA1A_000139 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. 2 c.161G>A r.(?) p.(Ser54Asn) Paternal (confirmed) - likely pathogenic g.49580459C>T g.49186676C>T - - TUBA1A_000001 - - - - Germline yes - - - - DNA SEQ - - ? - - - F ? - - - - - - 1 Enza Maria Valente
+?/. 2 c.161G>A r.(?) p.(Ser54Asn) Paternal (confirmed) - likely pathogenic g.49580459C>T g.49186676C>T - - TUBA1A_000001 - - - - Germline yes - - - - DNA SEQ - - ? - - - F ? - - - - - - 1 Enza Maria Valente
+?/. 2 c.161G>A r.(?) p.(Ser54Asn) Unknown - likely pathogenic g.49580459C>T g.49186676C>T - - TUBA1A_000001 - - - - Unknown yes - - - - DNA SEQ - - ? - - - M ? - - - - - - 1 Enza Maria Valente
+/+ 2 c.161G>A r.(?) p.(Ser54Asn) Unknown ACMG pathogenic g.49580459C>T g.49186676C>T - - TUBA1A_000001 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P113708 II-1 (proband) Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/+ 2 c.161G>A r.(?) p.(Ser54Asn) Unknown ACMG pathogenic g.49580459C>T g.49186676C>T - - TUBA1A_000001 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P113708 II-2 (sibling) Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/+ 2 c.161G>A r.(?) p.(Ser54Asn) Unknown ACMG pathogenic g.49580459C>T g.49186676C>T - - TUBA1A_000001 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P113708 I-3 (father) Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed M ? - - - - - - 1 Moritz Hebebrand
+?/+? 2 c.162T>A r.(?) p.(Ser54Arg) Unknown ACMG likely pathogenic g.49580458A>T g.49186675A>T - - TUBA1A_000138 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+/+ 2 c.163G>A r.(?) p.(Glu55Lys) Unknown ACMG pathogenic g.49580457C>T g.49186674C>T - - TUBA1A_000137 identified_by: Morris-Rosendahl Clin Genet, 2008 Pubmed_ID: 18954413 Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008 - - Germline yes - - - - DNA SEQ-NG - - LIS3 18954413-FR08-D5604 Journal: Hebebrand 2018, PubMed: Morris-Rosendahl 2008 source reviewed M ? United Arab Emirates - - - - - 1 Moritz Hebebrand
+/+ 2 c.167C>T r.(?) p.(Thr56Met) Unknown ACMG pathogenic g.49580453G>A g.49186670G>A - - TUBA1A_000136 identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 24860126-LIS_TUB_003_ fetus18 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 source reviewed M ? - - - - - - 1 Moritz Hebebrand
-/. - c.171G>T r.(?) p.(Gly57=) Unknown - benign g.49580449C>A g.49186666C>A TUBA1A(NM_006009.3):c.171G>T (p.G57=) - TUBA1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.172G>A r.(?) p.(Ala58Thr) Unknown - likely pathogenic g.49580448C>T - - - TUBA1A_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.175G>A r.(?) p.(Gly59Ser) Unknown - likely pathogenic g.49580445C>T g.49186662C>T - - TUBA1A_000009 - - - - De novo yes - - - - DNA SEQ - - ? - - - M ? - - - - - - 1 Enza Maria Valente
+/+ 2 c.175G>A r.(?) p.(Gly59Ser) Unknown ACMG pathogenic g.49580445C>T g.49186662C>T - - TUBA1A_000009 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P78411 Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed M ? - - - - - - 1 Moritz Hebebrand
+?/. - c.184G>A r.(?) p.(Val62Met) Unknown - likely pathogenic g.49580436C>T - TUBA1A(NM_001270399.2):c.184G>A (p.V62M) - TUBA1A_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>T r.(?) p.(Pro63=) Unknown - likely benign g.49580431G>A g.49186648G>A TUBA1A(NM_006009.3):c.189C>T (p.P63=) - TUBA1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.190C>T r.(?) p.(Arg64Trp) Unknown ACMG pathogenic g.49580430G>A g.49186647G>A - - TUBA1A_000134 identified_by: Yokoi Sci Rep, 2015 Pubmed_ID: 26493046 Journal: Hebebrand 2018, PubMed: Yokoi 2015 - - Germline yes - - - - DNA SEQ-NG - - LIS3 26493046-NCU_F41 Journal: Hebebrand 2018, PubMed: Yokoi 2015 source reviewed F no - - - - - - 1 Moritz Hebebrand
+?/. - c.197T>C r.(?) p.(Val66Ala) Unknown - likely pathogenic g.49580423A>G - - - TUBA1A_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.203T>C r.(?) p.(Val68Ala) Unknown - likely pathogenic g.49580417A>G g.49186634A>G - - TUBA1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.209T>C r.(?) p.(Leu70Ser) Unknown ACMG pathogenic g.49580411A>G g.49186628A>G - - TUBA1A_000133 identified_by: Cushion Brain, 2013 Pubmed_ID: 23361065 Journal: Hebebrand 2018, PubMed: Cushion 2013 - - Germline yes - - - - DNA SEQ-NG - - LIS3 23361065-Patient 5 Journal: Hebebrand 2018, PubMed: Cushion 2013 source reviewed F no - - - - - - 1 Moritz Hebebrand
+/+ 2 c.214C>T r.(?) p.(Pro72Ser) Unknown ACMG pathogenic g.49580406G>A g.49186623G>A - - TUBA1A_000132 identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 24860126-LIS_TUB_012_ fetus22 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/+ 2 c.215C>G r.(?) p.(Pro72Arg) Unknown ACMG pathogenic g.49580405G>C g.49186622G>C - - TUBA1A_000131 identified_by: Lelieveld Nat Neurosci, 2016 Journal: Hebebrand 2018, PubMed: Lelieveld 2016 - - Germline yes - - - - DNA SEQ-NG - - LIS3 denovo-db individual: 316 Journal: Hebebrand 2018, PubMed: Lelieveld 2016 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
-/. - c.226+10C>T r.(=) p.(=) Unknown - benign g.49580384G>A g.49186601G>A TUBA1A(NM_001270399.1):c.226+10C>T - TUBA1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227-1G>T r.spl? p.? Unknown - VUS g.49580242C>A - TUBA1A(NM_006009.4):c.227-1G>T - TUBA1A_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246C>T r.(?) p.(Thr82=) Unknown - likely benign g.49580222G>A g.49186439G>A TUBA1A(NM_001270399.1):c.246C>T (p.T82=) - TUBA1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.269A>G r.(?) p.(Glu90Gly) Unknown ACMG likely pathogenic g.49580199T>C g.49186416T>C - - TUBA1A_000130 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
-?/. - c.273A>G r.(?) p.(Gln91=) Unknown - likely benign g.49580195T>C g.49186412T>C TUBA1A(NM_006009.3):c.273A>G (p.Q91=) - TUBA1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.274C>G r.(?) p.(Leu92Val) Unknown ACMG pathogenic g.49580194G>C g.49186411G>C - - TUBA1A_000129 identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733 Journal: Hebebrand 2018, PubMed: Kumar 2010 - - Germline yes - - - - DNA SEQ-NG - - LIS3 20466733-CM-66 Journal: Hebebrand 2018, PubMed: Kumar 2010 source reviewed ? no - - - - - - 1 Moritz Hebebrand
-?/. - c.276T>C r.(?) p.(Leu92=) Unknown - likely benign g.49580192A>G g.49186409A>G TUBA1A(NM_001270399.1):c.276T>C (p.L92=) - TUBA1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.283G>T r.(?) p.(Gly95Cys) Unknown ACMG pathogenic g.49580185C>A g.49186402C>A - - TUBA1A_000128 identified_by: Helbig Genet Med, 2016 Journal: Hebebrand 2018, PubMed: Helbig 2016 - - Germline yes - - - - DNA SEQ-NG - - LIS3 denovo-db individual: 93 Journal: Hebebrand 2018, PubMed: Helbig 2016 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+/. - c.283G>T r.(?) p.(Gly95Cys) Unknown ACMG pathogenic (dominant) g.49580185C>A g.49186402C>A - - TUBA1A_000128 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat93 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.288A>G r.(?) p.(Lys96=) Unknown - benign g.49580180T>C g.49186397T>C TUBA1A(NM_006009.3):c.288A>G (p.K96=) - TUBA1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.288A>G r.(?) p.(Lys96=) Unknown - benign g.49580180T>C g.49186397T>C TUBA1A(NM_006009.3):c.288A>G (p.K96=) - TUBA1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.302A>G r.(?) p.(Asn101Ser) Unknown ACMG pathogenic g.49580166T>C g.49186383T>C - - TUBA1A_000127 identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 24860126-LIS_TUB_079_ fetus25 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 source reviewed M ? - - - - - - 1 Moritz Hebebrand
+?/. - c.302A>G r.(?) p.(Asn101Ser) Unknown ACMG likely pathogenic (dominant) g.49580166T>C - - - TUBA1A_000127 ACMG: PS2, PS4_SUP, PM2_SUP, PP2, PP3 PMID: 25059107 PMID: 30016746 VCV000625515.1 - De novo yes - - - - DNA SEQ-NG-I - - LIS3 189864 - prenatal trio-exom after ultrasound abnormalities ? no Germany - - - - - 1 Andreas Laner
+/+ 2 c.320A>G r.(?) p.(His107Arg) Unknown ACMG pathogenic g.49580148T>C g.49186365T>C - - TUBA1A_000126 identified_by: Mencarelli J. Mol. Sci, 2017 Pubmed_ID: 29109381 Journal: Hebebrand 2018, PubMed: Mencarelli 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 29109381-Pat Journal: Hebebrand 2018, PubMed: Mencarelli 2017 source reviewed F no - - - - - - 1 Moritz Hebebrand
?/. - c.329T>C r.(?) p.(Ile110Thr) Unknown ACMG likely pathogenic (dominant) g.49580139A>G g.49186356A>G - - TUBA1A_000181 ACMG: PM1, PS2_SUP, PM2_SUP, PP2, PP3; confirmed de novo - - - De novo - - - - - DNA SEQ-NG-I Blood - LIS3 285701 - - F no Germany - - - - - 1 Andreas Laner
+/+ 3 c.337G>A r.(?) p.(Glu113Lys) Unknown ACMG pathogenic g.49580131C>T g.49186348C>T - - TUBA1A_000125 identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 24860126-LIS_TUB_031 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 source reviewed M ? - - - - - - 1 Moritz Hebebrand
?/. - c.344T>C r.(?) p.(Ile115Thr) Unknown - VUS g.49580124A>G g.49186341A>G TUBA1A(NM_006009.3):c.344T>C (p.I115T, p.(Ile115Thr)) - TUBA1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.344T>C r.(?) p.(Ile115Thr) Unknown - likely pathogenic g.49580124A>G - TUBA1A(NM_006009.3):c.344T>C (p.I115T, p.(Ile115Thr)) - TUBA1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.352G>A r.(?) p.(Val118Met) Unknown ACMG pathogenic g.49580116C>T g.49186333C>T - - TUBA1A_000124 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+/. - c.352G>A r.(?) p.(Val118Met) Unknown ACMG pathogenic (dominant) g.49580116C>T - - - TUBA1A_000124 ACMG: PS2_VSTR, PM5, PM2_SUP, PP2, PP3 PMID: 30744660, PMID: 25326637 VCV000217023.2 - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - LIS3 184460 - - F no Germany - - - - - 1 Andreas Laner
+?/. 3 c.352G>C r.(?) p.(Val118Leu) Unknown - likely pathogenic g.49580116C>G g.49186333C>G - - TUBA1A_000008 - - - - De novo yes - - - - DNA SEQ - - ? - - - M ? - - - - - - 1 Enza Maria Valente
+/+ 3 c.352G>C r.(?) p.(Val118Leu) Unknown ACMG pathogenic g.49580116C>G g.49186333C>G - - TUBA1A_000008 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-TUB01 Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed M ? - - - - - - 1 Moritz Hebebrand
+/+ 3 c.367C>T r.(?) p.(Arg123Cys) Unknown ACMG pathogenic g.49580101G>A g.49186318G>A - - TUBA1A_000123 identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 24860126-LIS_TUB_044 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+?/. - c.367C>T r.(?) p.(Arg123Cys) Unknown - likely pathogenic g.49580101G>A g.49186318G>A TUBA1A(NM_001270399.1):c.367C>T (p.R123C) - TUBA1A_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.368G>A r.(?) p.(Arg123His) Unknown - likely pathogenic g.49580100C>T g.49186317C>T - - TUBA1A_000007 - - - - De novo yes - - - - DNA SEQ - - ? - - - M ? - - - - - - 1 Enza Maria Valente
+/+ 3 c.368G>A r.(?) p.(Arg123His) Unknown ACMG pathogenic g.49580100C>T g.49186317C>T - - TUBA1A_000007 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P34016 Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed M ? - - - - - - 1 Moritz Hebebrand
-?/. - c.378C>T r.(?) p.(Ala126=) Unknown - likely benign g.49579771G>A g.49185988G>A TUBA1A(NM_001270399.1):c.378C>T (p.(=)) - TUBA1A_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379G>A r.(?) p.(Asp127Asn) Unknown - VUS g.49579770C>T g.49185987C>T TUBA1A(NM_006009.3):c.379G>A (p.(Asp127Asn)) - TUBA1A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.379G>A r.(?) p.(Asp127Asn) Unknown ACMG likely pathogenic g.49579770C>T g.49185987C>T - - TUBA1A_000122 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+/+ 4 c.381C>A r.(?) p.(Asp127Glu) Unknown ACMG pathogenic g.49579768G>T g.49185985G>T - - TUBA1A_000121 identified_by: Sato et al Brain Dev, 2018 Pubmed_ID: 29907476 Journal: Hebebrand 2018, PubMed: Sato 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 29907476-III-1 Journal: Hebebrand 2018, PubMed: Sato 2018 source reviewed F ? - - - - - - 1 Moritz Hebebrand
?/. - c.389C>T r.(?) p.(Thr130Met) Unknown - VUS g.49579760G>A - TUBA1A(NM_001270399.1):c.389C>T (p.T130M) - TUBA1A_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390G>C r.(?) p.(Thr130=) Unknown - likely benign g.49579759C>G g.49185976C>G TUBA1A(NM_001270399.1):c.390G>C (p.T130=) - TUBA1A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394C>G r.(?) p.(Leu132Val) Unknown - VUS g.49579755G>C g.49185972G>C - - TUBA1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396C>T r.(?) p.(Leu132=) Unknown - likely benign g.49579753G>A g.49185970G>A TUBA1A(NM_006009.3):c.396C>T (p.L132=) - TUBA1A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.401G>A r.(?) p.(Gly134Asp) Unknown - likely pathogenic g.49579748C>T - TUBA1A(NM_001270399.2):c.401G>A (p.G134D) - TUBA1A_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.410T>A r.(?) p.(Val137Asp) Unknown ACMG likely pathogenic g.49579739A>T g.49185956A>T - - TUBA1A_000120 identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733 Journal: Hebebrand 2018, PubMed: Kumar 2010 - - Germline yes - - - - DNA SEQ-NG - - LIS3 20466733-CM-107 Journal: Hebebrand 2018, PubMed: Kumar 2010 source reviewed ? no - - - - - - 1 Moritz Hebebrand
+?/+? 4 c.424G>A r.(?) (p.Gly142Ser) Unknown ACMG likely pathogenic g.49579725C>T g.49185942C>T - - TUBA1A_000118 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/+? 4 c.424G>T r.(?) p.(Gly142Cys) Unknown ACMG likely pathogenic g.49579725C>A g.49185942C>A - - TUBA1A_000117 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/+? 4 c.427G>A r.(?) p.(Gly143Arg) Unknown ACMG likely pathogenic g.49579722C>T g.49185939C>T - - TUBA1A_000116 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. 4 c.449C>T r.(?) p.(Thr150Ile) Unknown - likely pathogenic g.49579700G>A g.49185917G>A - - TUBA1A_000006 - - - - De novo yes - - - - DNA SEQ - - ? - - - F ? - - - - - - 1 Enza Maria Valente
+?/. 4 c.449C>T r.(?) p.(Thr150Ile) Unknown - likely pathogenic g.49579700G>A g.49185917G>A - - TUBA1A_000006 - - - - De novo yes - - - - DNA SEQ - - ? - - - F ? - - - - - - 1 Enza Maria Valente
+/+ 4 c.449C>T r.(?) p.(Thr150Ile) Unknown ACMG pathogenic g.49579700G>A g.49185917G>A - - TUBA1A_000006 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P46814 II-1 Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/+ 4 c.449C>T r.(?) p.(Thr150Ile) Unknown ACMG pathogenic g.49579700G>A g.49185917G>A - - TUBA1A_000006 identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066 Journal: Hebebrand 2018, PubMed: Romaniello 2017 - - Germline yes - - - - DNA SEQ-NG - - LIS3 28677066-P46814 II-2 (ident. Twin sister) Journal: Hebebrand 2018, PubMed: Romaniello 2017 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/. - c.452C>G r.(?) p.(Ser151Trp) Unknown - pathogenic g.49579697G>C g.49185914G>C TUBA1A(NM_006009.3):c.452C>G (p.S151W) - TUBA1A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453G>C r.(?) p.(Ser151=) Unknown - benign g.49579696C>G g.49185913C>G TUBA1A(NM_006009.3):c.453G>C (p.S151=) - TUBA1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453G>C r.(?) p.(Ser151=) Unknown - benign g.49579696C>G g.49185913C>G TUBA1A(NM_006009.3):c.453G>C (p.S151=) - TUBA1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.455T>A r.(?) p.(Leu152Gln) Unknown ACMG likely pathogenic g.49579694A>T g.49185911A>T - - TUBA1A_000114 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+/. - c.465A>Y r.(?) p.(Glu155Asp) Unknown - pathogenic (dominant) g.49579684T>R g.49185901T>R Glu155Asp - TUBA1A_000176 - PubMed: Nissenkorn 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES MRMV Fam4Pat8 PubMed: Nissenkorn 2021 - M - Israel - - - - - 1 Johan den Dunnen
?/. - c.467G>A r.(?) p.(Arg156His) Unknown ACMG likely pathogenic g.49579682C>T - - - TUBA1A_000171 Note on variant classification: Variants were classified using ACMG criteria (Richards et al., 2015) in November of 2020. These criteria are not applicable for novel gene identification and have limited utility for significant novel phenotype expansion. Classification is provided for established TUBA1A-associated tubulinopathy phenotypes, but excludes novel phenotype expansions (e.g. CFEOM) which are not yet well established in association with TUBA1A variants. - - - De novo yes - - - - DNA SEQ-NG - Exome sequencing ? Subject 2 - - M no - - - - - - 1 Julie Jurgens
+/+ 4 c.473C>T r.(?) p.(Ser158Leu) Unknown ACMG pathogenic g.49579676G>A g.49185893G>A - - TUBA1A_000113 identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 - - Germline yes - - - - DNA SEQ-NG - - LIS3 24860126-LIS_TUB_053_foetus21 Journal: Hebebrand 2018, PubMed: Bahi-Buisson 2014 source reviewed F ? - - - - - - 1 Moritz Hebebrand
+/+ 4 c.481T>C r.(?) p.(Tyr161His) Unknown ACMG pathogenic g.49579668A>G g.49185885A>G - - TUBA1A_000111 identified_by: Poirier Eur J Hum Genetics, 2013 Pubmed_ID: 22948023 Journal: Hebebrand 2018, PubMed: Poirier 2013 - - Germline yes - - - - DNA SEQ-NG - - LIS3 22948023-Patient 2 Journal: Hebebrand 2018, PubMed: Poirier 2013 source reviewed F no - - - - - - 1 Moritz Hebebrand
+?/+? 4 c.481T>G r.(?) p.(Tyr161Asp) Unknown ACMG likely pathogenic g.49579668A>C g.49185885A>C - - TUBA1A_000112 - Journal: Hebebrand 2018 - - Germline yes - - - - DNA SEQ-NG - - LIS3 ClinVar Journal: Hebebrand 2018 source reviewed ? ? - - - - - - 1 Moritz Hebebrand
+?/. - c.482A>G r.(?) p.(Tyr161Cys) Unknown - likely pathogenic g.49579667T>C - TUBA1A(NM_001270399.1):c.482A>G (p.(Tyr161Cys)) - TUBA1A_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


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