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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BGN
(K173R)
Single nucleotide variant
(missense variant)
Meester-Loeys syndrome
GUncertain significance
BGN
(Q75*)
Single nucleotide variant
(nonsense)
Meester-Loeys syndrome
+1 more
GPathogenic/Likely 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
(N333D)
Single nucleotide variant
(missense variant)
Meester-Loeys syndrome
GUncertain significance
BGN
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
BGN
(G80S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
ATP2B3, BGN
+2 more
Deletion
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
BGN
(Q303P)
Single nucleotide variant
(missense variant)
Meester-Loeys syndrome
GUncertain significance
BGN
(W2*)
Single nucleotide variant
(nonsense)
Meester-Loeys syndrome
GLikely pathogenic
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