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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1, LOC126806446
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1, LOC126806446
(G782S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1, LOC126806446
(P785S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
COL3A1, LOC126806446
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GConflicting classifications of pathogenicity
COL3A1, LOC126806446
(A791S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
COL3A1, LOC126806446
(A791V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GLikely benign
COL3A1, LOC126806446
(S796I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
COL3A1, LOC126806446
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+1 more
GLikely benign
LOC126806446, COL3A1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
COL3A1, LOC126806446
(P805R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, type 4
+2 more
GLikely benign
COL3A1, LOC126806446
(A814T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GUncertain significance
COL3A1, LOC126806446
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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