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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A2
(H332Y +3 more)
Single nucleotide variant
(missense variant +1 more)
SLC35A2-congenital disorder of glycosylation
GUncertain significance
SLC35A2
(G205fs +3 more)
Duplication
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GLikely pathogenic
SLC35A2
(V219fs +3 more)
Deletion
(frameshift variant +1 more)
SLC35A2-congenital disorder of glycosylation
GPathogenic
SLC35A2
(K114* +4 more)
Single nucleotide variant
(nonsense)
SLC35A2-congenital disorder of glycosylation
GPathogenic
ARAF, CCDC120
+64 more
Copy number gain
not provided
GPathogenic
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