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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC35C1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
SLC35C1
(E18*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SLC35C1
(F168del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC35C1
Single nucleotide variant
(synonymous variant)
SLC35C1-related condition
+2 more
GConflicting classifications of pathogenicity
SLC35C1
(I240V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
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