ClinVar for MedGen (Select 924785) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2584393	NM_002317.7(LOX):c.681C>G (p.Tyr227Ter)	LOX, SRFBP1 (Y227*)	Single nucleotide variant (5 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
Select item 2582583	NM_002317.7(LOX):c.1102G>A (p.Asp368Asn)	LOX, SRFBP1 (D138N +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance
Select item 2446432	NM_002317.7(LOX):c.1132G>C (p.Val378Leu)	LOX, SRFBP1 (V148L +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
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 1806188	NM_002317.7(LOX):c.144G>A (p.Trp48Ter)	LOX, SRFBP1 (W48*)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
Select item 1804003	NM_002317.7(LOX):c.389C>A (p.Ser130Ter)	LOX, SRFBP1 (S130*)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
Select item 1708066	NM_002317.7(LOX):c.1024_1025dup (p.Gln345fs)	LOX, SRFBP1 (Q115fs +2 more)	Duplication (frameshift variant)	Aortic aneurysm, familial thoracic 10	GLikely pathogenic
Select item 1679409	NM_002317.7(LOX):c.137T>A (p.Ile46Asn)	LOX, SRFBP1 (I46N)	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)	not provided +2 more	GUncertain significance
Select item 1434346	NM_002317.7(LOX):c.1190G>A (p.Arg397His)	LOX, SRFBP1 (R167H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GUncertain significance
Select item 1354485	NM_002317.7(LOX):c.986C>A (p.Ser329Tyr)	LOX, SRFBP1 (S99Y +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
Select item 1345289	NM_002317.7(LOX):c.1035G>A (p.Gln345=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1343849	NM_002317.7(LOX):c.840C>A (p.Ser280Arg)	LOX, SRFBP1 (S280R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 10 +1 more	GConflicting classifications of pathogenicity
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 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 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 1307429	NM_002317.7(LOX):c.493G>C (p.Gly165Arg)	LOX, SRFBP1 (G165R)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +2 more	GUncertain significance
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 1215447	NM_002317.7(LOX):c.1189C>T (p.Arg397Cys)	LOX, SRFBP1 (R100C +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10 +1 more	GUncertain significance
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 1098843	NM_002317.7(LOX):c.917T>C (p.Leu306Pro)	LOX, SRFBP1 (L306P +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance
Select item 1098842	NM_002317.7(LOX):c.445G>T (p.Gly149Ter)	LOX, SRFBP1 (G149*)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 10	GPathogenic
Select item 1098841	NM_002317.7(LOX):c.351del (p.Arg118fs)	LOX, SRFBP1 (R118fs)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 10	GPathogenic
Select item 1098840	NM_002317.7(LOX):c.53_66del (p.Leu18fs)	LOX, SRFBP1 (L18fs)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 10	GPathogenic
Select item 996536	NM_002317.7(LOX):c.749A>G (p.Tyr250Cys)	LOX, SRFBP1 (Y20C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992529	NM_002317.7(LOX):c.132G>C (p.Gln44His)	LOX, SRFBP1 (Q44H)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance
Select item 974875	NM_002317.7(LOX):c.1009C>T (p.Arg337Ter)	SRFBP1, LOX (R107* +2 more)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 10 +1 more	GPathogenic/Likely pathogenic
Select item 973085	NM_002317.7(LOX):c.545C>G (p.Pro182Arg)	SRFBP1, LOX (P182R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931970	NM_002317.7(LOX):c.878+12G>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 10	GUncertain significance
Select item 785135	NM_002317.7(LOX):c.204C>T (p.Arg68=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 617849	NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)	LOX, SRFBP1 (S348R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 496152	NM_002317.7(LOX):c.534T>C (p.Ser178=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 496150	NM_002317.7(LOX):c.225C>G (p.Ala75=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 10 +3 more	GBenign
Select item 489315	NM_002317.7(LOX):c.1035+1G>A	SRFBP1, LOX	Single nucleotide variant (splice donor variant)	Aortic aneurysm, familial thoracic 10 +1 more	GPathogenic/Likely pathogenic
Select item 445585	NM_002317.7(LOX):c.476C>A (p.Pro159Gln)	LOX, SRFBP1 (P159Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 267293	NM_002317.7(LOX):c.800A>C (p.Gln267Pro)	SRFBP1, LOX (Q267P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital aneurysm of ascending aorta +2 more	GPathogenic
Select item 267292	NM_002317.7(LOX):c.125G>A (p.Trp42Ter)	SRFBP1, LOX (W42*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 267291	NM_002317.7(LOX):c.839G>T (p.Ser280Ile)	SRFBP1, LOX (S280I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital aneurysm of ascending aorta +2 more	GPathogenic
Select item 228806	NM_002317.7(LOX):c.893T>G (p.Met298Arg)	LOX, SRFBP1 (M298R +2 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 10 +1 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 41