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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B4GALT1
(V258I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
B4GALT1, B4GALT1-AS1
(R8W)
Single nucleotide variant
(missense variant)
B4GALT1-congenital disorder of glycosylation
GUncertain significance
B4GALT1
(Y180*)
Single nucleotide variant
(nonsense)
B4GALT1-congenital disorder of glycosylation
GPathogenic
B4GALT1, B4GALT1-AS1
(R2T)
Single nucleotide variant
(missense variant)
B4GALT1-congenital disorder of glycosylation
+1 more
GUncertain significance
B4GALT1
(P87S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
B4GALT1
Single nucleotide variant
(intron variant)
B4GALT1-congenital disorder of glycosylation
+1 more
GBenign
B4GALT1
(P131L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
B4GALT1
Single nucleotide variant
(synonymous variant +1 more)
B4GALT1-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
B4GALT1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
B4GALT1
(R345fs +2 more)
Duplication
(frameshift variant +1 more)
B4GALT1-congenital disorder of glycosylation
GPathogenic
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