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Links from MedGen

Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(Q331L)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
COL3A1
(D69N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(G855C)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GPathogenic/Likely pathogenic
COL3A1
(P445S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(A1124S)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
(A937T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(R992S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(I66L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(A691V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(P635L)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
(R413Q)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GUncertain significance
COL3A1
(P185A)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
(P1087L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(D1348G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(R1091S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(T632K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(A170V)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
GUncertain significance
COL3A1
(G489W)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
GLikely pathogenic
COL3A1, LOC126806446
(A784V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(R310Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL3A1
(I403V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(M262V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(R308Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL3A1
(G847V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(N1342S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(A295V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(M262T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(G348A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(F1267S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(A482P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL3A1
(R1255L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(R1166Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
COL3A1
(P893L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
+2 more
GLikely benign
COL3A1
(T632I)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(A280T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(K629E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
COL3A1
(G666S)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GLikely pathogenic
COL3A1
(P680S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL3A1
(E29del)
Deletion
(inframe_deletion)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+3 more
GUncertain significance
COL3A1
(A1202S)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
(P49A)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GLikely pathogenic
COL3A1
(P686fs)
Deletion
(frameshift variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
GPathogenic
COL3A1
(R428*)
Single nucleotide variant
(nonsense)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GPathogenic
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
+4 more
GConflicting classifications of pathogenicity
COL3A1
(G532S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(P755Q)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
COL3A1
(P1189L)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GUncertain significance
COL3A1
(A1070S)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GUncertain significance
COL3A1
(R97H)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GUncertain significance
COL3A1
(P1178S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(V529I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL3A1
(D925N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GLikely benign
COL3A1
(L988H)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
(E658K)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+4 more
GUncertain significance
COL3A1
(I499T)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+3 more
GConflicting classifications of pathogenicity
COL3A1
(V529A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
COL3A1
(Y158N)
Single nucleotide variant
(missense variant)
COL3A1-related condition
+4 more
GUncertain significance
COL3A1
(D1453N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL3A1
(R509H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL3A1
(P659T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(P565H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
COL3A1
(P607L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL3A1
(I1449T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(R1432L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
+3 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(3 prime UTR variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
Single nucleotide variant
(3 prime UTR variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GUncertain significance
COL3A1
(R1312Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL3A1
(G1335S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(S934L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(P89L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(V976A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(intron variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+3 more
GBenign
COL3A1
Single nucleotide variant
(intron variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+3 more
GBenign
COL3A1
(R596*)
Single nucleotide variant
(nonsense)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+2 more
GPathogenic
COL3A1
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
GLikely pathogenic
COL3A1
(H1353Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
COL3A1
(E704K)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(R1358*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
COL3A1
(R1109G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+4 more
GConflicting classifications of pathogenicity
COL3A1
(N889Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(Q641E)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+3 more
GUncertain significance
COL3A1
(N389Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+4 more
GConflicting classifications of pathogenicity
COL3A1
(P281H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL3A1
(D68G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+3 more
GUncertain significance
COL3A1
(A475V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
COL3A1
(D41Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
COL3A1
(R1109Q)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GUncertain significance
COL3A1
(K1313R)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GConflicting classifications of pathogenicity
COL3A1
(R271Q)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+4 more
GBenign
COL3A1
Single nucleotide variant
(intron variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+3 more
GBenign
COL3A1
Single nucleotide variant
(synonymous variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+4 more
GBenign
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