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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOX, SRFBP1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOX, SRFBP1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOX, SRFBP1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GBenign/Likely benign
LOX, SRFBP1
(R158Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
LOX, SRFBP1
(S130P)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOX, SRFBP1
(R98S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
LOX, SRFBP1
(Q45H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
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