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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GALT6
(F151I)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GUncertain significance
B3GALT6
(W183R)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GUncertain significance
B3GALT6
(E200K)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GUncertain significance
B3GALT6
(A250V)
Single nucleotide variant
(missense variant)
Al-Gazali syndrome
+2 more
GUncertain significance
B3GALT6
(E174Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
B3GALT6
(P50A)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+3 more
GUncertain significance
B3GALT6
(L299M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
B3GALT6, SDF4
+1 more
Duplication
Combined immunodeficiency due to OX40 deficiency
+2 more
GUncertain significance
B3GALT6
(F149L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
+3 more
GConflicting classifications of pathogenicity
B3GALT6
(G37E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
B3GALT6
(E105Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
B3GALT6
(F186L)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
+1 more
GPathogenic
B3GALT6
(R6Q)
Single nucleotide variant
(missense variant)
Al-Gazali syndrome
+5 more
GUncertain significance
B3GALT6
(R197fs)
Duplication
(frameshift variant)
not provided
+4 more
GConflicting classifications of pathogenicity
B3GALT6
(D285N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+4 more
GConflicting classifications of pathogenicity
B3GALT6
(D207H)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GPathogenic
B3GALT6
(P67L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 2
+1 more
GPathogenic
B3GALT6
(S65G)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GPathogenic
B3GALT6
(C300S)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GPathogenic
B3GALT6
(D156N)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
GPathogenic
B3GALT6
(R232C)
Single nucleotide variant
(missense variant)
Spondyloepimetaphyseal dysplasia with joint laxity
+2 more
GConflicting classifications of pathogenicity
B3GALT6
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
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