Full data view for gene TUBA4A

Information The variants shown are described using the NM_006000.1 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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     
+?/. - c.83A>G r.(?) p.(His28Arg) Unknown - likely pathogenic (dominant) g.220116873T>C g.219252151T>C - - TUBA4A_000040 variant not maternal PubMed: Benkirane 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam7Pat7 PubMed: Benkirane 2024 2-generation family, 2 affected brothers/unaffected sister, unaffected parents M - - white - - - - 2 Johan den Dunnen
+?/. - c.83A>G r.(?) p.(His28Arg) Unknown - likely pathogenic (dominant) g.220116873T>C g.219252151T>C - - TUBA4A_000040 variant not maternal PubMed: Benkirane 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam7Pat8 PubMed: Benkirane 2024 brother M - - white - - - - 1 Johan den Dunnen
+?/. - c.98A>T r.(?) p.(Asp33Val) Maternal (confirmed) - likely pathogenic (dominant) g.220116858T>A g.219252136T>A - - TUBA4A_000039 - PubMed: Benkirane 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam8Pat9 PubMed: Benkirane 2024 3-generation family, 4 affected (brother/mother/2 boys) M - United Kingdom (Great Britain) white - - - - 4 Johan den Dunnen
+?/. 2 c.128G>T r.(?) p.(Gly43Val) Unknown - likely pathogenic (!) g.220116828C>A g.219252106C>A - - TUBA4A_000038 - PubMed: Smith 2014 - - Germline/De novo (untested) - 1/13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat1 PubMed: Smith 2014 patient M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.225del r.(?) p.(Ile75fs) Unknown - likely pathogenic g.220116732del g.219252010del 225delT - TUBA4A_000001 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.229G>A r.(?) p.(Glu77Lys) Unknown ACMG pathogenic (dominant) g.220116433C>T g.219251711C>T G229A - TUBA4A_000037 ACMG PS2, PS3, PS4, PM2 PubMed: Li 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES INFF Trio1 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
?/. - c.313C>T r.(?) p.(Arg105Cys) Unknown - VUS g.220116349G>A - TUBA4A(NM_001278552.1):c.268C>T (p.R90C) - TUBA4A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.313C>T r.(?) p.(Arg105Cys) Unknown - likely pathogenic (dominant) g.220116349G>A g.219251627G>A - - TUBA4A_000008 - PubMed: Benkirane 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam9Pat10 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.313C>T r.(?) p.(Arg105Cys) Parent #1 - pathogenic (dominant) g.220116349G>A g.219251627G>A - - TUBA4A_000008 - PubMed: Mol 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES FTD family PubMed: Mol 2021 3-generation family, 8 affected - no Netherlands - - - - - 1 Johan den Dunnen
+/. - c.381C>G r.(?) p.(Asp127Glu) Unknown ACMG pathogenic (dominant) g.220116040G>C g.219251318G>C C381G - TUBA4A_000036 ACMG PS3, PS4, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat1 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+?/. 4 c.433A>C r.(?) p.(Thr145Pro) Paternal (confirmed) - likely pathogenic (!) g.220115988T>G g.219251266T>G - - TUBA4A_000035 - PubMed: Smith 2014 - - Germline - not found in 13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat2 PubMed: Smith 2014 4-generation family, 5 affected (2F, 3M)) M - United States - - - - - 5 Johan den Dunnen
?/. - c.466C>T r.(?) p.(Arg156Trp) Unknown - VUS g.220115955G>A - - - TUBA4A_000005 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.517C>T r.(?) p.(Pro173Ser) Unknown - likely pathogenic (dominant) g.220115904G>A g.219251182G>A - - TUBA4A_000034 - PubMed: Benkirane 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1Pat1 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents M - France white - - - - 1 Johan den Dunnen
+?/. - c.518C>G r.(?) p.(Pro173Arg) Unknown - likely pathogenic (dominant) g.220115903G>C g.219251181G>C - - TUBA4A_000033 - PubMed: Benkirane 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam2Pat2 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents M - France white - - - - 1 Johan den Dunnen
+?/. - c.518C>G r.(?) p.(Pro173Arg) Unknown - likely pathogenic (dominant) g.220115903G>C g.219251181G>C - - TUBA4A_000033 - PubMed: Benkirane 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam3Pat3 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France white - - - - 1 Johan den Dunnen
?/. - c.554A>G r.(?) p.(Tyr185Cys) Unknown ACMG VUS g.220115867T>C g.219251145T>C - - TUBA4A_000003 ACMG PM2, PP3mod PubMed: Molaei 2025 SCV006075347.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES ALS Fam301298Pat39 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - 1 Johan den Dunnen
+?/. 4 c.643C>T r.(?) p.(Arg215Cys) Maternal (confirmed) - likely pathogenic (!) g.220115778G>A g.219251056G>A - - TUBA4A_000032 - PubMed: Smith 2014 - - Germline - not found in 13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat3 PubMed: Smith 2014 2-generation family, affected female (and mother) F - Spain - - - - - 1 Johan den Dunnen
+/. - c.644G>A r.(?) p.(Arg215His) Unknown ACMG pathogenic (dominant) g.220115777C>T g.219251055C>T G644A - TUBA4A_000031 ACMG PS3, PS4, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat2 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+?/. - c.679C>T r.(?) p.(Leu227Phe) Unknown ACMG likely pathogenic (dominant) g.220115742G>A g.219251020G>A - - TUBA4A_000030 ACMG PS2, PM2, PP3 PubMed: Wan 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - MYOP Pat1 PubMed: Wan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.679C>T r.(?) p.(Leu227Phe) Unknown ACMG likely pathogenic (dominant) g.220115742G>A g.219251020G>A - - TUBA4A_000030 ACMG PS2, PM2, PP3 PubMed: Wan 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - - MYOP Pat2 PubMed: Wan 2024 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.685C>T r.(?) p.(Arg229Cys) Unknown ACMG pathogenic (dominant) g.220115736G>A g.219251014G>A C685T - TUBA4A_000029 ACMG PS3, PS4, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat3 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.685C>T r.(?) p.(Arg229Cys) Unknown ACMG pathogenic (dominant) g.220115736G>A g.219251014G>A C685T - TUBA4A_000029 ACMG PS3, PS4, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat4 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
?/. - c.722C>T r.(?) p.(Ser241Phe) Unknown - VUS g.220115699G>A - - - TUBA4A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.775C>G r.(?) p.(Leu259Val) Unknown - likely pathogenic (dominant) g.220115646G>C g.219250924G>C - - TUBA4A_000028 - PubMed: Benkirane 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam10Pat11 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) India - - - - 1 Johan den Dunnen
?/. - c.779T>G r.(?) p.(Val260Gly) Unknown - VUS g.220115642A>C - - - TUBA4A_000004 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.818C>T r.(?) p.(Ala273Val) Unknown ACMG likely pathogenic (dominant) g.220115603G>A g.219250881G>A C818T - TUBA4A_000027 ACMG PS4, PM2, BS3 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat5 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
-?/. - c.849C>T r.(?) p.(His283=) Unknown - likely benign g.220115572G>A - TUBA4A(NM_001278552.1):c.804C>T (p.H268=) - TUBA4A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.850G>A r.(?) p.(Glu284Lys) Unknown ACMG pathogenic (dominant) g.220115571C>T g.219250849C>T G850A - TUBA4A_000026 ACMG PS4, PS3, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat6 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.850G>A r.(?) p.(Glu284Lys) Unknown - pathogenic (dominant) g.220115571C>T g.219250849C>T - - TUBA4A_000026 - PubMed: Li 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES INFF Trio1 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.850G>A r.(?) p.(Glu284Lys) Unknown - pathogenic (dominant) g.220115571C>T g.219250849C>T - - TUBA4A_000026 - PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat2 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.851G>A r.(?) p.(Glu284Gly) Unknown - pathogenic (dominant) g.220115570T>C g.219250848T>C 851G>A (E284G) - TUBA4A_000025 - PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat1 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.857T>C r.(?) p.(Leu286Pro) Unknown ACMG pathogenic (dominant) g.220115564A>G g.219250842A>G T857C - TUBA4A_000024 ACMG PS2, PS3, PS4, PM2 PubMed: Li 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES INFF Trio2 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.907G>C r.(?) p.(Val303Leu) Unknown ACMG pathogenic (dominant) g.220115514C>G g.219250792C>G G907C - TUBA4A_000023 ACMG PS4, PS3, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat7 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
-?/. - c.909A>G r.(?) p.(Val303=) Unknown - likely benign g.220115512T>C g.219250790T>C TUBA4A(NM_001278552.2):c.864A>G (p.V288=), TUBA4A(NM_006000.3):c.909A>G (p.V303=) - TUBA4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909A>G r.(?) p.(Val303=) Unknown - benign g.220115512T>C - TUBA4A(NM_001278552.2):c.864A>G (p.V288=), TUBA4A(NM_006000.3):c.909A>G (p.V303=) - TUBA4A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.941C>T r.(?) p.(Ala314Val) Unknown ACMG pathogenic (dominant) g.220115480G>A g.219250758G>A C941T - TUBA4A_000022 ACMG PS4, PS3, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat8 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+?/. - c.947G>A r.(?) p.(Cys316Tyr) Unknown - likely pathogenic (dominant) g.220115474C>T g.219250752C>T - - TUBA4A_000021 - PubMed: Benkirane 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam4Pat4 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France white - - - - 1 Johan den Dunnen
+?/. 4 c.958C>T r.(?) p.(Arg320Cys) Unknown - likely pathogenic (!) g.220115463G>A g.219250741G>A - - TUBA4A_000020 - PubMed: Smith 2014 - - Germline/De novo (untested) - not found in 13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat4 PubMed: Smith 2014 2-generation family, 2 affected brothers M - Italy - - - - - 2 Johan den Dunnen
+?/. 4 c.959G>A r.(?) p.(Arg320His) Maternal (inferred) - likely pathogenic (!) g.220115462C>T g.219250740C>T - - TUBA4A_000019 - PubMed: Smith 2014 - - Germline - not found in 13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat5 PubMed: Smith 2014 4-generation family, 2 affected (female and grand-grandmaternal mother) F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+?/. - c.1015C>T r.(?) p.(Arg339Cys) Unknown - likely pathogenic (recessive) g.220115406G>A g.219250684G>A - - TUBA4A_000018 - PubMed: Hu 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Pat3 PubMed: Hu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - 1 Johan den Dunnen
+/. - c.1040G>A r.1040G>A p.Cys347Tyr Unknown ACMG pathogenic (dominant) g.220115381C>T g.219250659C>T G1040A - TUBA4A_000017 ACMG PS2, PS3, PS4, PM2 PubMed: Li 2023 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - trio WES INFF Trio3 PubMed: Li 2023 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. - c.1051_1055dup r.(?) p.(Lys352AsnfsTer29) Unknown - likely pathogenic g.220115366_220115370dup g.219250644_219250648dup - - TUBA4A_000002 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.1118G>A r.(?) p.(Arg373His) Unknown ACMG pathogenic (dominant) g.220115303C>T g.219250581C>T G1118A - TUBA4A_000016 ACMG PS4, PS3, PM2 PubMed: Li 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFF Pat9 PubMed: Li 2023 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.1147G>A r.(?) p.(Ala383Thr) Unknown - pathogenic g.220115274C>T g.219250552C>T TUBA4A(NM_001278552.1):c.1102G>A (p.(Ala368Thr)) - TUBA4A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1147G>A r.(?) p.(Ala383Thr) Maternal (confirmed) - likely pathogenic (!) g.220115274C>T g.219250552C>T - - TUBA4A_000006 - PubMed: Smith 2014 - - Germline - 1/13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat6 PubMed: Smith 2014 2-generation family, 2 affected (son/mother) M - Italy - - - - - 2 Johan den Dunnen
+?/. 4 c.1221G>A r.(?) p.(Trp407Ter) Paternal (confirmed) - likely pathogenic (!) g.220115200C>T g.219250478C>T - - TUBA4A_000015 - PubMed: Smith 2014 - - Germline - not found in 13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat8 PubMed: Smith 2014 2-generation family, 2 affected (daughter/father) F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Unknown - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Benkirane 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam5Pat5 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected non-carrier parents F - France white - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Unknown - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Benkirane 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam6Pat6 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Unknown - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatII2 PubMed: Torella 2023 4-generation family, 11 affected (4F, 7M) F - Italy - - - - - 11 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIII2 PubMed: Torella 2023 daughter F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIII4 PubMed: Torella 2023 daughter F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIII6 PubMed: Torella 2023 daughter F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV1 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV3 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV4 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV5 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV6 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV7 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Maternal (confirmed) - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ataxia Fam1PatIV8 PubMed: Torella 2023 grandson M - Italy - - - - - 1 Johan den Dunnen
+?/. - c.1243G>A r.(?) p.(Glu415Lys) Unknown - likely pathogenic (dominant) g.220115178C>T g.219250456C>T - - TUBA4A_000014 - PubMed: Torella 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam2PatII1 PubMed: Torella 2023 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.1257C>T r.(?) p.(Ser419=) Unknown - likely benign g.220115164G>A - TUBA4A(NM_006000.3):c.1257C>T (p.S419=) - TUBA4A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1267G>A r.(?) p.(Glu423Lys) Unknown - likely pathogenic (dominant) g.220115154C>T g.219250432C>T - - TUBA4A_000013 - PubMed: Benkirane 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ataxia Fam11Pat12 PubMed: Benkirane 2024 2-generation family, 1 affected, unaffected parents M - - white - - - - 1 Johan den Dunnen
+?/. 4 c.1290G>C r.(?) p.(Lys430Asn) Maternal (inferred) - likely pathogenic (!) g.220115131C>G g.219250409C>G - - TUBA4A_000012 - PubMed: Smith 2014 - - Germline - not found in 13063 controls - - - DNA SEQ, SEQ-NG - - ALS Pat7 PubMed: Smith 2014 3-generation family, 2 affected nieces F - Netherlands - - - - - 2 Johan den Dunnen
+?/. - c.1319_1320del r.(?) p.(Tyr440Ter) Unknown - likely pathogenic (recessive) g.220115102_220115103del g.219250380_219250381del - - TUBA4A_000011 - PubMed: Hu 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFF Pat4 PubMed: Hu 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - 1 Johan den Dunnen
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