U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

  • The following term was not found in ClinVar: colymbada.
  • Showing results for Colymbada kotschyi. Your search for Colymbada kotschyi retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(R212C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SLC2A1
(R126C)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+3 more
GPathogenic/Likely pathogenic