"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1215724	NM_002317.7(LOX):c.1232G>A (p.Gly411Asp)	LOX, SRFBP1 (G114D +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 1331000	NM_002317.7(LOX):c.878+17C>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 496152	NM_002317.7(LOX):c.534T>C (p.Ser178=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	LOX-related condition +3 more	GBenign/Likely benign
Select item 445585	NM_002317.7(LOX):c.476C>A (p.Pro159Gln)	LOX, SRFBP1 (P159Q)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GBenign/Likely benign
Select item 1215073	NM_002317.7(LOX):c.364C>T (p.Arg122Cys)	LOX, SRFBP1 (R122C)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 1450865	NM_002317.7(LOX):c.355C>A (p.Pro119Thr)	LOX, SRFBP1 (P119T)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GUncertain significance
Select item 736277	NM_002317.7(LOX):c.322G>A (p.Gly108Ser)	LOX, SRFBP1 (G108S)	Single nucleotide variant (missense variant)	LOX-related condition +3 more	GLikely benign
Select item 1330410	NM_002317.7(LOX):c.302C>T (p.Ala101Val)	LOX, SRFBP1 (A101V)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 2428718	NM_002317.7(LOX):c.262C>A (p.Arg88Ser)	LOX, SRFBP1 (R88S)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance
Select item 496150	NM_002317.7(LOX):c.225C>G (p.Ala75=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 785135	NM_002317.7(LOX):c.204C>T (p.Arg68=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 10 +3 more	GBenign/Likely benign
Select item 1330430	NM_002317.7(LOX):c.203G>C (p.Arg68Pro)	LOX, SRFBP1 (R68P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2920861	NM_002317.7(LOX):c.95C>G (p.Pro32Arg)	LOX, SRFBP1 (P32R)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance