Full data view for gene TUBB8

Information The variants shown are described using the NM_177987.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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     

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Age at death     

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+/. _1_4_ c.(?_1)_(*169_?)del r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(?_92828)_(95178_?)del g.(?_46888)_(49238_?)del - - TUBB8_000035 - PubMed: Chen 2017 - - Germline - - - - - DNA SEQ - - INFF Fam9 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.5G>A r.(?) p.(Arg2Lys) Paternal (confirmed) - pathogenic (dominant) g.95174C>T g.49234C>T - - TUBB8_000054 - PubMed: Feng 2016 - - Germline - 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam6 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.5G>T r.(?) p.(Arg2Met) Unknown - pathogenic (dominant) g.95174C>A g.49234C>A - - TUBB8_000034 - PubMed: Chen 2017 - - De novo - - - - - DNA SEQ - - INFF Fam7 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.5G>T r.(?) p.(Arg2Met) Paternal (confirmed) - pathogenic (dominant) g.95174C>A g.49234C>A - - TUBB8_000034 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ - - INFF Fam3 PubMed: Huang 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.10A>C r.(?) p.(Ile4Leu) Unknown - pathogenic (dominant) g.95169T>G g.49229T>G - - TUBB8_000027 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 17 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.10A>C r.(?) p.(Ile4Leu) Unknown - pathogenic (dominant) g.95169T>G g.49229T>G - - TUBB8_000027 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 26 PubMed: Chen 2019, Journal: Chen2019 - F - China - - - - - 1 Wang Wenjing
+/. - c.10A>C r.(?) p.(Ile4Leu) Paternal (confirmed) - pathogenic (dominant) g.95169T>G g.49229T>G - - TUBB8_000027 - PubMed: Chen 2017 - - Germline - - - - - DNA SEQ - - INFF Fam3 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.35G>A r.(?) p.(Cys12Tyr) Paternal (confirmed) - pathogenic (dominant) g.95144C>T g.49204C>T - - TUBB8_000053 - PubMed: Chen 2017 - - Germline - - - - - DNA SEQ - - INFF Fam8 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.80_100del r.(?) p.(Glu27_Ala33del) Both (homozygous) - pathogenic (recessive) g.94812_94832del g.48872_48892del - - TUBB8_000031 - PubMed: Feng 2016 - - Germline yes - - - - DNA SEQ - - INFF Fam8 PubMed: Feng 2016 2-generation family, 2 affected (2F) F - China - - - - - 1 Johan den Dunnen
+/. - c.181C>A r.(?) p.(Pro61Thr) Unknown - pathogenic (dominant) g.94651G>T g.48711G>T - - TUBB8_000026 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 15 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.209C>T r.(?) p.(Pro70Leu) Paternal (confirmed) - pathogenic (dominant) g.94623G>A g.48683G>A - - TUBB8_000052 - PubMed: Chen 2017 - - Germline - - - - - DNA SEQ - - INFF Fam1 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.292G>A r.(?) p.(Gly98Arg) Unknown - pathogenic (dominant) g.94040C>T g.48100C>T - - TUBB8_000025 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 12 PubMed: Chen 2019, Journal: Chen2019 2-generation, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.292G>A r.(?) p.(Gly98Arg) Unknown - pathogenic (dominant) g.94040C>T g.48100C>T - - TUBB8_000025 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 29 PubMed: Chen 2019, Journal: Chen2019 - F - China - - - - - 1 Wang Wenjing
+/. - c.292G>A r.(?) p.(Gly98Arg) Unknown - pathogenic (dominant) g.94040C>T g.48100C>T - - TUBB8_000025 - PubMed: Wang 2018 - - De novo - - - - - DNA SEQ - - INFF Fam PubMed: Wang 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+/. - c.322G>A r.(?) p.(Glu108Lys) Paternal (confirmed) - pathogenic (dominant) g.94010C>T g.48070C>T - - TUBB8_000023 - PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 6 PubMed: Chen 2019, Journal: Chen2019 3-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.322G>A r.(?) p.(Glu108Lys) Both (homozygous) - pathogenic (recessive) g.94010C>T g.48070C>T - - TUBB8_000023 parents not available PubMed: Yuan 2018 - - Germline - - - - - DNA SEQ - - INFF Pat1 PubMed: Yuan 2018 2-generation family, 1 affected F no China - - - - - 1 Johan den Dunnen
-?/. - c.328G>A r.(?) p.(Ala110Thr) Unknown - likely benign g.94004C>T - TUBB8(NM_177987.3):c.328G>A (p.(Ala110Thr)) - TUBB8_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.384C>A r.(?) p.(Asp128Glu) Unknown - VUS g.93948G>T g.48008G>T TUBB8(NM_177987.2):c.384C>A (p.D128E) - TUBB8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.389T>C r.(?) p.(Leu130Pro) Unknown - likely benign g.93943A>G - TUBB8(NM_177987.3):c.389T>C (p.(Leu130Pro)) - TUBB8_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.394G>A r.(?) p.(Gly132Ser) Unknown - likely pathogenic g.93938C>T - TUBB8(NM_001389619.1):c.178G>A (p.G60S) - TUBB8_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402G>C r.(?) p.(Gln134His) Unknown - likely benign g.93930C>G - TUBB8(NM_177987.3):c.402G>C (p.(Gln134His)) - TUBB8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.426dup r.(?) p.(Thr143Aspfs*12) Maternal (confirmed) - pathogenic (recessive) g.93911dup g.47971dup 426dupG - TUBB8_000022 - PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 6 PubMed: Chen 2019, Journal: Chen2019 3-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.426dup r.(?) p.(Thr143Aspfs*12) Both (homozygous) - pathogenic g.93911dup g.47971dup c.426_427insG - TUBB8_000022 - PubMed: Feng 2016 - - Germline - - - - - DNA SEQ - - INFF Fam9 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.523G>A r.(?) p.(Val175Met) Unknown - pathogenic (dominant) g.93809C>T g.47869C>T - - TUBB8_000024 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR - - OZEMA;OOMD Family 21 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China Han Chinese - - - - 1 Wang Wenjing
+/. - c.527C>T r.(?) p.(Ser176Leu) Unknown - pathogenic (dominant) g.93805G>A g.47865G>A - - TUBB8_000021 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 18 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China Han Chinese - - - - 1 Wang Wenjing
+/. - c.527C>T r.(?) p.(Ser176Leu) Unknown - pathogenic (dominant) g.93805G>A g.47865G>A - - TUBB8_000021 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 27 PubMed: Chen 2019, Journal: Chen2019 - F - China Han Chinese - - - - 1 Wang Wenjing
+/. - c.527C>T r.(?) p.(Ser176Leu) Unknown - pathogenic (dominant) g.93805G>A g.47865G>A - - TUBB8_000021 - PubMed: Feng 2016 - - De novo - 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam3 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.527C>T r.(?) p.(Ser176Leu) Unknown - pathogenic (dominant) g.93805G>A g.47865G>A - - TUBB8_000021 - PubMed: Feng 2016 - - De novo - - - - - DNA SEQ - - INFF Fam1 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.535G>A r.(?) p.(Val179Met) Paternal (confirmed) - pathogenic (dominant) g.93797C>T g.47857C>T - - TUBB8_000033 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ - - INFF Fam1 PubMed: Huang 2017 3-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.535G>A r.(?) p.(Val179Met) Paternal (confirmed) - pathogenic (dominant) g.93797C>T g.47857C>T - - TUBB8_000033 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ - - INFF Fam2 PubMed: Huang 2017 3-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+?/. - c.535G>A r.(?) p.(Val179Met) Unknown - likely pathogenic g.93797C>T - TUBB8(NM_177987.3):c.535G>A (p.V179M) - TUBB8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.580G>A r.(?) p.(Glu194Lys) Unknown - pathogenic (dominant) g.93752C>T g.47812C>T - - TUBB8_000032 - PubMed: Chen 2017 - - De novo - - - - - DNA SEQ - - INFF Fam6 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.600T>G r.(?) p.(Phe200Leu) Unknown - pathogenic (dominant) g.93732A>C g.47792A>C - - TUBB8_000020 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 24 PubMed: Chen 2019, Journal: Chen2019 - F - - - - - - - 1 Wang Wenjing
+/. - c.613G>A r.(?) p.(Glu205Lys) Unknown - pathogenic (dominant) g.93719C>T g.47779C>T - - TUBB8_000051 - PubMed: Chen 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - INFF Fam5 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.628A>G r.(?) p.(Ile210Val) Unknown - pathogenic (dominant) g.93704T>C g.47764T>C - - TUBB8_000050 - PubMed: Feng 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - INFF Fam2 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.686T>C r.(?) p.(Val229Ala) Paternal (confirmed) - pathogenic (dominant) g.93646A>G g.47706A>G - - TUBB8_000049 - PubMed: Feng 2016 - - Germline yes 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam1PatIII5 PubMed: Feng 2016 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
+/. - c.713C>T r.(?) p.(Thr238Met) Paternal (confirmed) - pathogenic (dominant) g.93619G>A g.47679G>A - - TUBB8_000048 - PubMed: Feng 2016 - - Germline - - - - - DNA SEQ - - INFF Fam3 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.721C>T r.(?) p.(Arg241Cys) Both (homozygous) - pathogenic (recessive) g.93611G>A g.47671G>A - - TUBB8_000019 - PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 10 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F yes China - - - - - 1 Wang Wenjing
+/. - c.722G>A r.(?) p.(Arg241His) Unknown - pathogenic (dominant) g.93610C>T g.47670C>T - - TUBB8_000018 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 19 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China Han Chinese - - - - 1 Wang Wenjing
-?/. - c.729G>A r.(=) p.(=) Maternal (confirmed) - likely benign g.93603C>T g.47663C>T - - TUBB8_000038 variant homozygous in mother PubMed: Lanuza-Lopez 2020 - rs6560827 Germline - - - - - DNA SEQ-NG - WES INFF Fam1 PubMed: Lanuza-Lopez 2020 4-generation family, 3 affected sisters F - Mexico - - - - - 1 Johan den Dunnen
+/. - c.735G>C r.(?) p.(Gln245His) Unknown - pathogenic (dominant) g.93597C>G g.47657C>G - - TUBB8_000017 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 13 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.735G>C r.(?) p.(Gln245His) Paternal (confirmed) ACMG likely pathogenic (dominant) g.93597C>G g.47657C>G - - TUBB8_000017 ACMG PS1, PM2, PP3 and PP4 PubMed: Lanuza-Lopez 2020 ClinVar-SCV000965681 - Germline yes - - - - DNA SEQ-NG - WES INFF Fam1 PubMed: Lanuza-Lopez 2020 4-generation family, 3 affected sisters F - Mexico - - - - - 1 Johan den Dunnen
+/. 4 c.763G>A r.(?) p.(Val255Met) Paternal (confirmed) - pathogenic (dominant) g.93569C>T g.47629C>T - - TUBB8_000002 - PubMed: Chen 2019, Journal: Chen2019 - - Germline yes 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Familiy 1 PubMed: Chen 2019, Journal: Chen2019 4-generation family, 5 affecteds (5F) F no China Han Chinese - - - - 5 Wang Wenjing
+/. - c.763G>A r.(?) p.(Val255Met) Unknown - pathogenic (dominant) g.93569C>T g.47629C>T - - TUBB8_000002 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 22 PubMed: Chen 2019, Journal: Chen2019 - F no China Han Chinese - - - - 1 Wang Wenjing
+/. - c.763G>A r.(?) p.(Val255Met) Unknown - pathogenic (dominant) g.93569C>T g.47629C>T - - TUBB8_000002 - PubMed: Feng 2016 - - De novo - - - - - DNA SEQ - - INFF Fam4 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.763G>A r.(?) p.(Val255Met) Unknown ACMG likely pathogenic (dominant) g.93569C>T g.47629C>T - - TUBB8_000002 ACMG PS1, PM2, PM6, PP3 PubMed: Lanuza-Lopez 2020 ClinVar-SCV000998849 rs782269374 De novo - - - - - DNA SEQ-NG - WES INFF Fam3 PubMed: Lanuza-Lopez 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Mexico - - - - - 1 Johan den Dunnen
+/. - c.784C>T r.(?) p.(Arg262Trp) Unknown - pathogenic (dominant) g.93548G>A g.47608G>A - - TUBB8_000047 - PubMed: Feng 2016 - - De novo - - - - - DNA SEQ - - INFF Fam5 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - pathogenic (dominant) g.93547C>T g.47607C>T - - TUBB8_000046 - PubMed: Feng 2016 - - De novo - 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam4 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.845G>C r.(?) p.(Arg282Pro) Paternal (confirmed) ACMG VUS g.93487C>G g.47547C>G - - TUBB8_000037 ACMG PM2, PP2, PP3, PP4 PubMed: Lanuza-Lopez 2020 ClinVar-SCV001146970 - Germline - - - - - DNA SEQ-NG - WES INFF Fam2 PubMed: Lanuza-Lopez 2020 2-generation family, 1 affected F - Mexico - - - - - 1 Johan den Dunnen
+/. - c.853A>C r.(?) p.(Thr285Pro) Unknown - pathogenic (dominant) g.93479T>G g.47539T>G - - TUBB8_000045 - PubMed: Feng 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - INFF Fam6 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 2 Johan den Dunnen
+/. - c.883G>C r.(?) p.(Asp295His) Both (homozygous) - pathogenic (!) g.93449C>G g.47509C>G - - TUBB8_000016 incomplete penetrance or recessive PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 4 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F ? China - - - - - 1 Wang Wenjing
+/. - c.900G>A r.(?) p.(Met300Ile) Unknown - pathogenic (dominant) g.93432C>T g.47492C>T - - TUBB8_000044 - PubMed: Feng 2016 - - De novo - 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam7 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
-?/. - c.916C>T r.(?) p.(Arg306Cys) Unknown - likely benign g.93416G>A g.47476G>A TUBB8(NM_177987.2):c.916C>T (p.R306C) - TUBB8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.935C>T r.(935C>T) p.(Thr312Met) Both (homozygous) ACMG likely pathogenic (recessive) g.93397G>A g.47457G>A - - TUBB8_000060 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood - INFF 2246_Case1 - 2-generation family, 2 affected sisters; sister (ID:00464630) has primary infertility and recurrent ICSI failure. F yes Egypt - - - - - 2 Rima Slim
+?/. - c.935C>T r.(935C>T) p.(Thr312Met) Both (homozygous) ACMG likely pathogenic g.93397G>A g.47457G>A - - TUBB8_000060 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood WES (whole exome sequencing) INFF 2250_Case1 - sister (ID:00464628) has seven years of primary infertility, normal karyotype, and recurrent failed ICSI. F yes Egypt - - - - - 1 Rima Slim
-?/. - c.938C>T r.(?) p.(Ala313Val) Unknown - likely benign g.93394G>A g.47454G>A TUBB8(NM_177987.2):c.938C>T (p.A313V), TUBB8(NM_177987.3):c.938C>T (p.A313V) - TUBB8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.938C>T r.(?) p.(Ala313Val) Unknown - likely benign g.93394G>A - TUBB8(NM_177987.2):c.938C>T (p.A313V), TUBB8(NM_177987.3):c.938C>T (p.A313V) - TUBB8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.990G>A r.(?) p.(Met330Ile) Paternal (confirmed) - pathogenic (dominant) g.93342C>T g.47402C>T - - TUBB8_000043 - PubMed: Chen 2017 - - Germline - - - - - DNA SEQ - - INFF Fam2 PubMed: Chen 2017 2-generation family, 2 affected (2F) F - China - - - - - 2 Johan den Dunnen
+/. - c.1000C>G r.(?) p.(Gln334Glu) Paternal (confirmed) - pathogenic (dominant) g.93332G>C g.47392G>C - - TUBB8_000015 - PubMed: Chen 2019, Journal: Chen2019 - - Germline yes 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 3 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.1043A>G r.(?) p.(Asn348Ser) Unknown - pathogenic (dominant) g.93289T>C g.47349T>C - - TUBB8_000042 - PubMed: Feng 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - INFF Fam7 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.1054G>T r.(?) p.(Ala352Ser) Paternal (inferred) - pathogenic (dominant) g.93278C>A g.47338C>A - - TUBB8_000036 father not available PubMed: Xiang 2018 - - Germline yes - - - - DNA SEQ - - INFF Fam PubMed: Xiang 2018 2-generation family, 2 affected sisters, unaffected non-carrier mother F no China - - - - - 1 Johan den Dunnen
+/. - c.1057G>A r.(?) p.(Val353Ile) Unknown - pathogenic (dominant) g.93275C>T g.47335C>T - - TUBB8_000014 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 23 PubMed: Chen 2019, Journal: Chen2019 - F - China Han Chinese - - - - 1 Wang Wenjing
+/. - c.1057G>A r.(?) p.(Val353Ile) Unknown - pathogenic (dominant) g.93275C>T g.47335C>T - - TUBB8_000014 - PubMed: Chen 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - INFF Fam4 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.1061G>A r.(?) p.(Cys354Tyr) Unknown - pathogenic (dominant) g.93271C>T g.47331C>T - - TUBB8_000013 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 14 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.1072C>G r.(?) p.(Pro358Ala) Unknown - pathogenic (dominant) g.93260G>C g.47320G>C - - TUBB8_000012 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 11 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.1073C>T r.(?) p.(Pro358Leu) Paternal (confirmed) - pathogenic (dominant) g.93259G>A g.47319G>A - - TUBB8_000003 - PubMed: Chen 2019, Journal: Chen2019 - - Germline yes 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 2 PubMed: Chen 2019, Journal: Chen2019 3-generation family, 3 affected (3F) F no China Han Chinese - - - - 3 Wang Wenjing
+/. - c.1073C>T r.(?) p.(Pro358Leu) Unknown - pathogenic (dominant) g.93259G>A g.47319G>A - - TUBB8_000003 - PubMed: Chen 2019, Journal: Chen2019 - - De novo yes 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 16 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.1073C>T r.(?) p.(Pro358Leu) Unknown - pathogenic (dominant) g.93259G>A g.47319G>A - - TUBB8_000003 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 30 PubMed: Chen 2019, Journal: Chen2019 - F - China - - - - - 1 Wang Wenjing
+/. - c.1088T>C r.(?) p.(Met363Thr) Paternal (confirmed) - pathogenic (dominant) g.93244A>G g.47304A>G - - TUBB8_000041 - PubMed: Feng 2016 - - Germline - 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam5 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.1099T>C r.(?) p.(Phe367Leu) Paternal (confirmed) - pathogenic (dominant) g.93233A>G g.47293A>G - - TUBB8_000011 - PubMed: Chen 2019, Journal: Chen2019 - - Germline yes 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 5 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.1171C>T r.(?) p.(Arg391Cys) Unknown - pathogenic (dominant) g.93161G>A g.47221G>A - - TUBB8_000010 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 25 PubMed: Chen 2019, Journal: Chen2019 - F - China - - - - - 1 Wang Wenjing
+/. - c.1205dup r.(?) p.(Met403Hisfs*3) Both (homozygous) - pathogenic (recessive) g.93129dup g.47189dup 1205dupG - TUBB8_000009 - PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 9 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F ? China - - - - - 1 Wang Wenjing
+/. - c.1228G>A r.(?) p.(Glu410Lys) Unknown - pathogenic (dominant) g.93104C>T g.47164C>T - - TUBB8_000008 - PubMed: Chen 2019, Journal: Chen2019 - - De novo - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 28 PubMed: Chen 2019, Journal: Chen2019 - F - China - - - - - 1 Wang Wenjing
?/. - c.1245G>A r.(?) p.(Met415Ile) Unknown - VUS g.93087C>T g.47147C>T - - TUBB8_000040 - PubMed: Chen 2017 - - De novo - - - - - DNA SEQ - - INFF Fam6 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - 1 Johan den Dunnen
+/. - c.1249G>A r.(?) p.(Asp417Asn) Paternal (confirmed) - pathogenic (dominant) g.93083C>T g.47143C>T - - TUBB8_000039 - PubMed: Feng 2016 - - Germline yes 1/24 cases - - - DNA SEQ, SEQ-NG - WES INFF Fam2PatII2 PubMed: Feng 2016 2-generation family, 2 affected (2F) F - China - - - - - 2 Johan den Dunnen
+/. - c.1249G>T r.(?) p.(Asp417Tyr) Unknown - pathogenic (dominant) g.93083C>A g.47143C>A - - TUBB8_000007 - PubMed: Chen 2019, Journal: Chen2019 - - Germline/De novo (untested) - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 20 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China Han Chinese - - - - 1 Wang Wenjing
?/. - c.1256T>A r.(?) p.(Val419Glu) Unknown - VUS g.93076A>T - TUBB8(NM_177987.2):c.1256T>A (p.(Val419Glu)) - TUBB8_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1270C>T r.(?) p.(Gln424*) Both (homozygous) - pathogenic (recessive) g.93062G>A g.47122G>A - - TUBB8_000006 - PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 7 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F ? China - - - - - 1 Wang Wenjing
+/. - c.1286C>T r.(?) p.(Thr429Met) Maternal (confirmed) - pathogenic g.93046G>A g.47106G>A - - TUBB8_000005 two variants on 1 allele, pathogenicity uncertain PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 8 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
+/. - c.1301_1327del r.(?) p.(Glu434_Glu442del) Maternal (confirmed) - pathogenic g.93018_93044del g.47078_47104del - - TUBB8_000004 two variants on 1 allele, pathogenicity uncertain PubMed: Chen 2019, Journal: Chen2019 - - Germline - 1/87 cases - - - DNA PCR, SEQ - - OZEMA;OOMD Family 8 PubMed: Chen 2019, Journal: Chen2019 2-generation family, 1 affected F no China - - - - - 1 Wang Wenjing
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