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Items: 1 to 100 of 2891

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935258, LOC129935259
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
LOC129935413, LOC129935414
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
LOC129935268, LOC129935269
+329 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+19 more
Copy number loss
See cases
GPathogenic
COL3A1
Single nucleotide variant
not provided
GLikely benign
COL3A1
Single nucleotide variant
Ehlers-Danlos syndrome, type 4
GBenign
COL3A1
Single nucleotide variant
(5 prime UTR variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
COL3A1
Duplication
Ehlers-Danlos syndrome, type 4
GPathogenic
LOC129935240, COL3A1
+11 more
Deletion
Ehlers-Danlos syndrome, type 4
GPathogenic
COL3A1
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(M1L)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Deletion
(nonsense)
Ehlers-Danlos syndrome, type 4
GPathogenic
COL3A1
(S3R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(V5M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
COL3A1
(V5E)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(Q6H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GLikely benign
COL3A1
(G8R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(G8E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GLikely benign
COL3A1
(W10*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, type 4
GPathogenic
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(L13P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1
(A14S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(A14T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL3A1
(A14G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(L15V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(H17L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(P18S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(P18R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(T19S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL3A1
(T19A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
COL3A1
(I20V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
COL3A1
(I21N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(Q25R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(E26Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COL3A1
(E26G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
Duplication
(splice donor variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL3A1, LOC126806446
+1 more
Deletion
(splice acceptor variant +1 more)
Megacolon
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
not provided
GBenign
COL3A1
Duplication
(intron variant)
not provided
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Duplication
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
COL3A1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
COL3A1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1
Deletion
(intron variant)
not specified
GLikely benign
COL3A1
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
COL3A1
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome, type 4
GLikely pathogenic
COL3A1
(A27D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(V28fs)
Deletion
(frameshift variant)
Ehlers-Danlos syndrome, type 4
GPathogenic
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1
(E29del)
Deletion
(inframe_deletion)
not provided
+3 more
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(E29D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GConflicting classifications of pathogenicity
COL3A1
(G31R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL3A1
(C32Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
COL3A1
(H34R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL3A1
(L35I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
COL3A1
(Q37L)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(Q37H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL3A1
(S38Y)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+4 more
GBenign/Likely benign
COL3A1
(Y39*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, type 4
GPathogenic
COL3A1
(A40T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL3A1
(A40G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(A40V)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
COL3A1
(D41N)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1
(D41Y)
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
+2 more
GLikely benign
COL3A1
(R42S)
Single nucleotide variant
(missense variant)
COL3A1-related condition
GUncertain significance
COL3A1
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
GLikely benign
COL3A1
(V44I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
COL3A1
(W45*)
Single nucleotide variant
(nonsense)
Ehlers-Danlos syndrome, type 4
GPathogenic
COL3A1
(E48D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GUncertain significance
COL3A1
(P49A)
Single nucleotide variant
(missense variant)
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
+1 more
GLikely pathogenic
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