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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(A1115P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A2
(G471A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL5A2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A1
(G208S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(P259A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GUncertain significance
COL5A1
(G478A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
GLikely pathogenic
COL5A1
(R611W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL5A1
(R611Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL5A1
(P833S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A1
(E1289K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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