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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
COL5A2
(D1413G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(L1275F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(G1125R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A2
(P1090S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(G921A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A2
(P857L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(G855R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL5A2
(P764L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A2
(G702R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL5A2
(G654S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(G567R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(R527H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL5A2
(G213A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(P136L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL5A2
(P118R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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