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Links from MedGen

Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALT6
Duplication
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(Y234*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(R115W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
(P39L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(R236S)
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
+1 more
GLikely benign
B3GALT6
(A141fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(S65C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
(M1I)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GPathogenic
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(L228R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(V225L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(P67T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(A13G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(R9L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(P67S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(P50T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(A124T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
(R178L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(R177H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
(R179C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(V277M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(Q255E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(L153F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(V152A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
(S272R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(R179P)
Single nucleotide variant
(missense variant)
B3GALT6-related condition
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(E104D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(L4V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(A24S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(R178C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(A34V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(D158S)
Inversion
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(P47L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(A148V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(L27F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(S43L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(A103V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+2 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(R267W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
(D158Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(A24V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GUncertain significance
B3GALT6
(A114T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GUncertain significance
B3GALT6
(S244F)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+2 more
GUncertain significance
B3GALT6
(A250V)
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
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
Single nucleotide variant
(synonymous variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GLikely benign
B3GALT6
(A250G)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(R295C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(D223N)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(R5W)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(A291P)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
B3GALT6
(E150Q)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(E174fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+2 more
GConflicting classifications of pathogenicity
B3GALT6
(M139V)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
B3GALT6
(E130G)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
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