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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL5A2
(I1444M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(Q1378R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(M1237V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(P1220L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(A1115P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A2
(R1114L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A2
(P1103L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
COL5A2
(R1060W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
COL5A2
(A1013V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL5A2
(G984R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GConflicting classifications of pathogenicity
COL5A2
(G964A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(P961S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
COL5A2
(P947T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL5A2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A2
(P866L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL5A2
(P857L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL5A2
(G831A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
COL5A2
(R830Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(L803S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COL5A2
(A796T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL5A2
(K743T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COL5A2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COL5A2
(R572Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL5A2
(E565K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
COL5A2
(G561R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type
GUncertain significance
COL5A2
(S551P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(R545Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(S436F)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+1 more
GUncertain significance
COL5A2
(K431R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+5 more
GConflicting classifications of pathogenicity
COL5A2
Deletion
(inframe deletion)
not provided
GUncertain significance
COL5A2
(A358V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GConflicting classifications of pathogenicity
COL5A2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
COL5A2
(E145A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(G126S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COL5A2
(G108D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL5A2
(F107V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
COL5A2
(I53N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+3 more
GUncertain significance
COL5A2
(M2T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
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