All individuals with variants in gene VPS13A

82 entries on 1 page. Showing entries 1 - 82.
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Owner     
00037338 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037339 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037340 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037341 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037342 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037343 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037344 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037345 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037346 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037347 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037348 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037349 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037350 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037351 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037352 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037353 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037354 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037355 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037356 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037357 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037358 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037359 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037360 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037361 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037362 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037363 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037364 - - - - - Germany - - 0 - - ? suspected neuroacanthocytosis, dystonia of tongue and gullet 1 1 Andreas Laner
00037365 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037366 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037367 - - - - - Germany - - 0 - - ? suspected Chorea-acanthocytosis 1 1 Andreas Laner
00037368 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037369 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037370 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037371 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037372 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037373 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037374 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037375 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037376 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037377 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037378 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037379 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037380 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037381 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037382 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037383 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037384 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037385 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037386 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037387 - - - - - Germany - - 0 - - ? bulbar paralysis 1 1 Andreas Laner
00037388 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037389 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037390 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037391 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037392 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037393 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037394 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037395 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037396 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037397 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037398 - - - - - Germany - - 0 - - ? Chorea-acanthocytosis 1 1 Andreas Laner
00037399 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037400 - - - - - Germany - - 0 - - ? Chorea-acanthocytosis 1 1 Andreas Laner
00037401 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037402 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00154973 - - - ? - (Germany) - - 0 - - ? HP:0012013 (EEG with temporal focal spike waves) 1 1 IMGAG
00248472 FamCHAC3 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 2-generation family, 2 affected brothers (deceased), unaffected heterozygous carrier parents M no - - - 0 - - CHAC see paper; ... 2 2 Johan den Dunnen
00248473 FamCHAC6 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - CHAC see paper; ... 1 1 Johan den Dunnen
00248474 FamCHAC2 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 1 1 Johan den Dunnen
00248475 FamCHAC1 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 2 1 Johan den Dunnen
00248476 FamCHAC4 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 1 1 Johan den Dunnen
00248477 FamCHAC5 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 2 1 Johan den Dunnen
00248478 FamCHAC7 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 2 1 Johan den Dunnen
00248479 FamCHAC8 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 1 1 Johan den Dunnen
00248480 FamCHAC9 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 1 1 Johan den Dunnen
00248481 FamCHAC10 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 1 1 Johan den Dunnen
00248482 FamCHAC11 PubMed: Rampoldi 2001, Journal: Rampoldi 2001 - - - - - - 0 - - CHAC see paper; … 2 1 Johan den Dunnen
00294885 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 24 Mohammed Faruq
00294886 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 68 Mohammed Faruq
00305253 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00309951 - - - F - - - - 0 - - ? Abnormality of movement (HP:0100022); Dysarthria (HP:0001260); Global developmental delay (HP:0001263); Chorea (HP:0002072) 1 1 Andreas Laner
00326816 174468 - - M ? Germany - - 0 - - CHAC (+) Chorea,(+) Incoordination,(+) Clumsiness,(+) Involuntary movements,(+) Craniofacial dystonia,(+) Bilateral tonic-clonic seizure with generalized onset,(+) Lingual dystonia,(+) Motor seizure 2 1 Andreas Laner
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