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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALT6
(G37E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
B3GALT6
(R162W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
GUncertain significance
B3GALT6
(S187W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
GUncertain significance
B3GALT6
(L205V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
B3GALT6
(D285N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+4 more
GConflicting classifications of pathogenicity
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