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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALT6
(W8G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
B3GALT6
(L26P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GBenign/Likely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
B3GALT6
(S159P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
B3GALT6
(E174D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GBenign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+2 more
GConflicting classifications of pathogenicity
B3GALT6
(G196V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GConflicting classifications of pathogenicity
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+3 more
GConflicting classifications of pathogenicity
B3GALT6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
B3GALT6
(D285N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+3 more
GBenign/Likely benign
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