All individuals with variants in gene SLC22A5

117 entries on 2 pages. Showing entries 1 - 100.
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Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - 21 1 Global Variome, with Curator vacancy
00043781 - PubMed: Hertz 2015, Journal: Hertz 2015 - M ? Denmark Denmark 00y01m 0 - - SIDS - 1 1 Christin Hertz
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00064731 - - - M - Denmark - 40y 0 - - SUD - 1 1 Sofie Lindgren Christiansen
00181073 - - - - - - - - - - - CDSP - 1 1 Belen Perez
00206501 - - - - - - - - 0 - - IBD-1 Crohns disease, susceptibility, association with 1 1 LOVD
00206502 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206503 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206504 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206505 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206506 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206507 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206508 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206512 - - - - - - - - 0 - - ? Carnitine uptake defect 2 1 Ni-Chung Lee
00206513 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206514 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206515 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206516 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206517 - - - F - United States - - 0 - - CDSP - 2 1 LOVD
00206518 - - - F - United States - - 0 - - CDSP - 2 1 LOVD
00206519 - - - F - United States - - 0 - - CDSP - 2 1 LOVD
00206520 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206521 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206522 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206523 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206524 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206525 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206528 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206529 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206530 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206532 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206533 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206534 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206535 Pat PubMed: Koizumi 1999 - - - Japan - - 0 - - CDSP - 1 1 LOVD
00206537 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206539 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206540 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206541 - - - - - - - - 0 - - ? Carnitine uptake defect 2 1 Ni-Chung Lee
00206542 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206544 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206545 - - - - - - - - 0 - - ? Carnitine uptake defect 2 1 Ni-Chung Lee
00206547 - - - - - - - - 0 - - ? Carnitine uptake defect 2 1 Ni-Chung Lee
00206548 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206549 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206550 - - - F - United States - - 0 - - CDSP - 2 1 LOVD
00206551 - - - - - - - - 0 - - ? Carnitine uptake defect / Detected by Newborn screened 2 1 Ni-Chung Lee
00206552 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206553 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206555 - - - - - - - - 0 - - ? Carnitine uptake defect 2 1 Ni-Chung Lee
00206556 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206557 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206558 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206559 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206560 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206561 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206562 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206563 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206564 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206565 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206566 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206567 Pat PubMed: Koizumi 1999 - - - Japan - - 0 - - CDSP - 1 1 LOVD
00206568 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206569 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206571 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206572 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206575 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206576 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206578 - - Maternal CUD picked up by newobnr screen F ? Taiwan - - 0 - - ? Carnitine uptake defect / asymptomatic 2 1 Ni-Chung Lee
00206579 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206581 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206582 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206583 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206584 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206585 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206587 - - - - - (United States) - - 0 - - CDSP No symptoms - Adult - Newborn screening 2 1 Nicola Longo
00206588 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206589 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206590 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206591 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206592 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206594 FamIW PubMed: Koizumi 1999 - M - Japan - - 0 - - CDSP - 1 1 LOVD
00206595 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206596 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206598 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206599 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206600 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00206601 - - - - - - - - 0 - - ? reduced function, association with 1 1 LOVD
00206602 - - - F - United States - - 0 - - CDSP - 2 1 LOVD
00206603 - - - - - - - - 0 - - CDSP - 1 1 LOVD
00206607 - - - - - - - - 0 - - ? carnitine deficiency 1 1 LOVD
00231293 - - - - - - (not applicable) - - 0 - - CDSP - 1 1 Hans Waterham
00293725 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00293726 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293727 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293728 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00293729 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00293730 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00293731 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293732 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 53 Mohammed Faruq
00293733 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
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