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Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:80878662
GRCh38:
Chr6:80168945
BCKDHBMaple syrup urine disease, MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB, not provided
Pathogenic/Likely pathogenic
(Mar 13, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr6:80910740
GRCh38:
Chr6:80201023
BCKDHBMaple syrup urine disease, not providedPathogenic
(Mar 5, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr6:81053456
GRCh38:
Chr6:80343739
BCKDHBMaple syrup urine disease, not providedPathogenic/Likely pathogenic
(Jul 18, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr19:41930487
GRCh38:
Chr19:41424582
BCKDHAMaple syrup urine disease, Maple syrup urine disease type 1A, not provided
Pathogenic
(Jun 13, 2017)
criteria provided, multiple submitters, no conflicts
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