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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35A1
Single nucleotide variant
(5 prime UTR variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GBenign
SLC35A1
(A3S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC35A1
(N7H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RARS2, SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
+4 more
GBenign/Likely benign
SLC35A1
(L297R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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