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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOX, SRFBP1
(P32R)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
GUncertain significance
SRFBP1, LOX
(Y227*)
Single nucleotide variant
(nonsense +2 more)
Aortic aneurysm, familial thoracic 10
GLikely pathogenic
LOX, SRFBP1
(D138N +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
GUncertain significance
LOX, SRFBP1
(V148L +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
GLikely pathogenic
LOX, SRFBP1
(R88S)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
GUncertain significance
LOX, SRFBP1
(W48*)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 10
GLikely pathogenic
LOX, SRFBP1
(S130*)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 10
GLikely pathogenic
LOX, SRFBP1
(Q115fs +2 more)
Duplication
(frameshift variant)
Aortic aneurysm, familial thoracic 10
GLikely pathogenic
LOX, SRFBP1
(I46N)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
(P119T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOX, SRFBP1
(R167H +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+2 more
GUncertain significance
LOX, SRFBP1
(S99Y +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOX, SRFBP1
(S280R +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 10
+1 more
GConflicting classifications of pathogenicity
LOX, SRFBP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LOX, SRFBP1
(R68P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOX, SRFBP1
(A101V)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
(G165R)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+2 more
GUncertain significance
LOX, SRFBP1
(G114D +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
(R100C +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
(R122C)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
(L306P +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
GUncertain significance
LOX, SRFBP1
(G149*)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 10
GPathogenic
LOX, SRFBP1
(R118fs)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 10
GPathogenic
LOX, SRFBP1
(L18fs)
Deletion
(frameshift variant)
Aortic aneurysm, familial thoracic 10
GPathogenic
LOX, SRFBP1
(Y20C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOX, SRFBP1
(Q44H)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
GUncertain significance
SRFBP1, LOX
(R107* +2 more)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 10
+1 more
GPathogenic/Likely pathogenic
SRFBP1, LOX
(P182R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOX, SRFBP1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 10
GUncertain significance
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LOX, SRFBP1
(G108S)
Single nucleotide variant
(missense variant)
LOX-related condition
+3 more
GLikely benign
LOX, SRFBP1
(S348R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 10
+3 more
GBenign
SRFBP1, LOX
Single nucleotide variant
(splice donor variant)
Aortic aneurysm, familial thoracic 10
+1 more
GPathogenic/Likely pathogenic
LOX, SRFBP1
(P159Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SRFBP1, LOX
(Q267P +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital aneurysm of ascending aorta
+2 more
GPathogenic
SRFBP1, LOX
(W42*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SRFBP1, LOX
(S280I +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital aneurysm of ascending aorta
+2 more
GPathogenic
LOX, SRFBP1
(M298R +2 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 10
+1 more
GPathogenic/Likely pathogenic
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