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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B4GALT7
(R270C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, spondylodysplastic type, 1
+3 more
GPathogenic
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+1 more
GBenign/Likely benign
CHST3
Single nucleotide variant
(synonymous variant)
Spondyloepiphyseal dysplasia with congenital joint dislocations
+3 more
GBenign/Likely benign
B3GAT3
Single nucleotide variant
(intron variant)
Larsen-like syndrome, B3GAT3 type
GLikely benign
B3GAT3
(G185E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
B3GAT3
(P61S +1 more)
Single nucleotide variant
(missense variant +1 more)
Larsen-like syndrome, B3GAT3 type
+1 more
GUncertain significance
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