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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BGN
(K147N)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
GLikely pathogenic
BGN
(D319N)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
+1 more
GUncertain significance
BGN
Single nucleotide variant
(synonymous variant)
X-linked spondyloepimetaphyseal dysplasia
+3 more
GLikely benign
BGN
Single nucleotide variant
(intron variant)
X-linked spondyloepimetaphyseal dysplasia
+2 more
GBenign
BGN
Single nucleotide variant
(intron variant)
Meester-Loeys syndrome
+2 more
GBenign
BGN
Single nucleotide variant
(intron variant)
Meester-Loeys syndrome
+2 more
GBenign
BGN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
BGN
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
BGN
(K86R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
BGN
(P228S)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
GUncertain significance
BGN
(R6H)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
GUncertain significance
BGN
(I215M)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
GUncertain significance
BGN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
BGN
(G259V)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
GPathogenic
BGN
(K147E)
Single nucleotide variant
(missense variant)
X-linked spondyloepimetaphyseal dysplasia
GPathogenic
ABCD1
(R518W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCD1
(G266R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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