Gene Symbol:
ABCB6
HGNC:47
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Filters:

Dyschromatosis universalis hereditaria classifications

dyschromatosis universalis hereditaria
Submitted as: Orphanet:241
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial pseudohyperkalemia classifications

familial pseudohyperkalemia
Submitted as: Orphanet:90044
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Microphthalmia, isolated, with coloboma classifications

microphthalmia, isolated, with coloboma
Submitted as: Orphanet:98938
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Microphthalmia, isolated, with coloboma 7 classifications

microphthalmia, isolated, with coloboma 7
Submitted as: OMIM:614497
AD
07/22/2015
Evaluated
11/25/2020
Submitted
microphthalmia, isolated, with coloboma 7
Submitted as: OMIM:614497
AD
12/28/2020
Evaluated
12/30/2020
Submitted

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The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.