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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALNT2, LOC126806060
+1 more
(P466L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
TBCE, B3GALNT2
(L489I +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
B3GALNT2, TBCE
(L524S +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
B3GALNT2
(R393Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
B3GALNT2
(S137L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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