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Items: 4

  • The following term was not found in ClinVar: Acosamine.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A4, UGT1A
+8 more
Microsatellite
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity; drug response; other
LOC110806262, SLC6A4
Deletion
Serotonin transporter activity, increased/decreased
GPathogenic
GLA, RPL36A-HNRNPH2
(L341P)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic
GLA, RPL36A-HNRNPH2
(I239T)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
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