All individuals with variants in gene BUB1B

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00263141 - - - M - - - - 0 - - - HP:0003003 (Colon cancer) 1 1 Andreas Laner
00266475 - - - - - Argentina Spain - 0 - - cancer, colon family history 2 1 Maximiliano Zeballos
00266479 - - - - - Argentina Argentina - 0 - - cancer posterior fossa hemangioblastoma; no family history 2 1 Maximiliano Zeballos
00296407 - - - M - - - - 0 - - ? Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Rhabdomyosarcoma (HP:0002859); Short stature (HP:0004322) 2 1 IMGAG
00300646 - - - F - Germany - - 0 - - ? Colorectal polyposis (HP:0200063); Colon cancer (HP:0003003) 1 1 Andreas Laner
00374225 S-2918 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Seizures since two years of age, developmental delay and nystagmus. MRI shows cerebellar atrophy 1 1 Johan den Dunnen
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