ClinVar for MedGen (Select 924785) - ClinVar

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Items: 36

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24464321.	NM_002317.7(LOX):c.1132G>C (p.Val378Leu) GRCh37: Chr5:121405863 GRCh38: Chr5:122070168	LOX, SRFBP1	V148L, V378L, V81L	Aortic aneurysm, familial thoracic 10	Likely pathogenic (Mar 3, 2023)	criteria provided, single submitter
Select item 24287182.	NM_002317.7(LOX):c.262C>A (p.Arg88Ser) GRCh37: Chr5:121413419 GRCh38: Chr5:122077724	LOX, SRFBP1	R88S	Aortic aneurysm, familial thoracic 10	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 18061883.	NM_002317.7(LOX):c.144G>A (p.Trp48Ter) GRCh37: Chr5:121413537 GRCh38: Chr5:122077842	LOX, SRFBP1	W48*	Aortic aneurysm, familial thoracic 10	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 18040034.	NM_002317.7(LOX):c.389C>A (p.Ser130Ter) GRCh37: Chr5:121413292 GRCh38: Chr5:122077597	LOX, SRFBP1	S130*	Aortic aneurysm, familial thoracic 10	Likely pathogenic (Sep 13, 2021)	criteria provided, single submitter
Select item 17080665.	NM_002317.7(LOX):c.1024_1025dup (p.Gln345fs) GRCh37: Chr5:121409717-121409718 GRCh38: Chr5:122074022-122074023	LOX, SRFBP1	Q115fs, Q345fs, Q48fs	Aortic aneurysm, familial thoracic 10	Likely pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 16794096.	NM_002317.7(LOX):c.137T>A (p.Ile46Asn) GRCh37: Chr5:121413544 GRCh38: Chr5:122077849	SRFBP1, LOX	I46N	Aortic aneurysm, familial thoracic 10, not provided	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14508657.	NM_002317.7(LOX):c.355C>A (p.Pro119Thr) GRCh37: Chr5:121413326 GRCh38: Chr5:122077631	LOX, SRFBP1	P119T	Aortic aneurysm, familial thoracic 10, not provided, Cardiovascular phenotype	Uncertain significance (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 14343468.	NM_002317.7(LOX):c.1190G>A (p.Arg397His) GRCh37: Chr5:121405805 GRCh38: Chr5:122070110	SRFBP1, LOX	R167H, R397H, R100H	Aortic aneurysm, familial thoracic 10, not provided, Cardiovascular phenotype	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13544859.	NM_002317.7(LOX):c.986C>A (p.Ser329Tyr) GRCh37: Chr5:121409757 GRCh38: Chr5:122074062	LOX, SRFBP1	S99Y, S329Y, S32Y	Aortic aneurysm, familial thoracic 10, not provided	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134528910.	NM_002317.7(LOX):c.1035G>A (p.Gln345=) GRCh37: Chr5:121409708 GRCh38: Chr5:122074013	LOX, SRFBP1		not provided, Aortic aneurysm, familial thoracic 10	Conflicting interpretations of pathogenicity (Sep 2, 2021)	criteria provided, conflicting interpretations
Select item 133100011.	NM_002317.7(LOX):c.878+17C>G GRCh37: Chr5:121411082 GRCh38: Chr5:122075387	LOX, SRFBP1		Aortic aneurysm, familial thoracic 10	Likely benign (Mar 9, 2021)	criteria provided, single submitter
Select item 133043012.	NM_002317.7(LOX):c.203G>C (p.Arg68Pro) GRCh37: Chr5:121413478 GRCh38: Chr5:122077783	LOX, SRFBP1	R68P	Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133041013.	NM_002317.7(LOX):c.302C>T (p.Ala101Val) GRCh37: Chr5:121413379 GRCh38: Chr5:122077684	LOX, SRFBP1	A101V	Aortic aneurysm, familial thoracic 10	Uncertain significance (Jul 21, 2021)	criteria provided, single submitter
Select item 130742914.	NM_002317.7(LOX):c.493G>C (p.Gly165Arg) GRCh37: Chr5:121413188 GRCh38: Chr5:122077493	LOX, SRFBP1	G165R	not provided, Cardiovascular phenotype, Aortic aneurysm, familial thoracic 10	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121544715.	NM_002317.7(LOX):c.1189C>T (p.Arg397Cys) GRCh37: Chr5:121405806 GRCh38: Chr5:122070111	SRFBP1, LOX	R100C, R167C, R397C	Aortic aneurysm, familial thoracic 10, not provided	Uncertain significance (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121507316.	NM_002317.7(LOX):c.364C>T (p.Arg122Cys) GRCh37: Chr5:121413317 GRCh38: Chr5:122077622	SRFBP1, LOX	R122C	not provided, Aortic aneurysm, familial thoracic 10	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109884317.	NM_002317.7(LOX):c.917T>C (p.Leu306Pro) GRCh37: Chr5:121409826 GRCh38: Chr5:122074131	LOX, SRFBP1	L306P, L76P, L9P	Aortic aneurysm, familial thoracic 10	Uncertain significance (Feb 19, 2021)	criteria provided, single submitter
Select item 109884218.	NM_002317.7(LOX):c.445G>T (p.Gly149Ter) GRCh37: Chr5:121413236 GRCh38: Chr5:122077541	LOX, SRFBP1	G149*	Aortic aneurysm, familial thoracic 10	Pathogenic (Feb 19, 2021)	criteria provided, single submitter
Select item 109884119.	NM_002317.7(LOX):c.351del (p.Arg118fs) GRCh37: Chr5:121413330 GRCh38: Chr5:122077635	LOX, SRFBP1	R118fs	Aortic aneurysm, familial thoracic 10	Pathogenic (Feb 19, 2021)	criteria provided, single submitter
Select item 109884020.	NM_002317.7(LOX):c.53_66del (p.Leu18fs) GRCh37: Chr5:121413615-121413628 GRCh38: Chr5:122077920-122077933	LOX, SRFBP1	L18fs	Aortic aneurysm, familial thoracic 10	Pathogenic (Feb 19, 2021)	criteria provided, single submitter
Select item 99653621.	NM_002317.7(LOX):c.749A>G (p.Tyr250Cys) GRCh37: Chr5:121411228 GRCh38: Chr5:122075533	LOX, SRFBP1	Y20C, Y250C	not provided	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 99252922.	NM_002317.7(LOX):c.132G>C (p.Gln44His) GRCh37: Chr5:121413549 GRCh38: Chr5:122077854	LOX, SRFBP1	Q44H	Aortic aneurysm, familial thoracic 10	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 97487523.	NM_002317.7(LOX):c.1009C>T (p.Arg337Ter) GRCh37: Chr5:121409734 GRCh38: Chr5:122074039	LOX, SRFBP1	R107, R337, R40*	Aortic aneurysm, familial thoracic 10, not provided	Likely pathogenic (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97308524.	NM_002317.7(LOX):c.545C>G (p.Pro182Arg) GRCh37: Chr5:121413136 GRCh38: Chr5:122077441	SRFBP1, LOX	P182R	not provided	Uncertain significance (Nov 22, 2019)	criteria provided, single submitter
Select item 93197025.	NM_002317.7(LOX):c.878+12G>T GRCh37: Chr5:121411087 GRCh38: Chr5:122075392	LOX, SRFBP1		Aortic aneurysm, familial thoracic 10	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 78513526.	NM_002317.7(LOX):c.204C>T (p.Arg68=) GRCh37: Chr5:121413477 GRCh38: Chr5:122077782	LOX, SRFBP1		Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype, not provided	Benign/Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73627727.	NM_002317.7(LOX):c.322G>A (p.Gly108Ser) GRCh37: Chr5:121413359 GRCh38: Chr5:122077664	LOX, SRFBP1	G108S	Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype, not provided	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61784928.	NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) GRCh37: Chr5:121406276 GRCh38: Chr5:122070581	LOX, SRFBP1	S348R, S51R, S118R	Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 49615229.	NM_002317.7(LOX):c.534T>C (p.Ser178=) GRCh37: Chr5:121413147 GRCh38: Chr5:122077452	SRFBP1, LOX		Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype, not provided	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49615030.	NM_002317.7(LOX):c.225C>G (p.Ala75=) GRCh37: Chr5:121413456 GRCh38: Chr5:122077761	LOX, SRFBP1		not provided, Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48931531.	NM_002317.7(LOX):c.1035+1G>A GRCh37: Chr5:121409707 GRCh38: Chr5:122074012	LOX, SRFBP1		Aortic aneurysm, familial thoracic 10, not provided	Pathogenic/Likely pathogenic (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44558532.	NM_002317.7(LOX):c.476C>A (p.Pro159Gln) GRCh37: Chr5:121413205 GRCh38: Chr5:122077510	LOX, SRFBP1	P159Q	Cardiovascular phenotype, Aortic aneurysm, familial thoracic 10, not provided	Benign/Likely benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26729333.	NM_002317.7(LOX):c.800A>C (p.Gln267Pro) GRCh37: Chr5:121411177 GRCh38: Chr5:122075482	LOX, SRFBP1	Q267P, Q37P	Congenital aneurysm of ascending aorta, Acute aortic dissection, Aortic aneurysm, familial thoracic 10	Pathogenic (Oct 24, 2016)	no assertion criteria provided
Select item 26729234.	NM_002317.7(LOX):c.125G>A (p.Trp42Ter) GRCh37: Chr5:121413556 GRCh38: Chr5:122077861	LOX, SRFBP1	W42*	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Nov 20, 2018)	criteria provided, single submitter
Select item 26729135.	NM_002317.7(LOX):c.839G>T (p.Ser280Ile) GRCh37: Chr5:121411138 GRCh38: Chr5:122075443	LOX, SRFBP1	S280I, S50I	Aortic aneurysm, familial thoracic 10, Congenital aneurysm of ascending aorta, Acute aortic dissection	Pathogenic (Oct 24, 2016)	no assertion criteria provided
Select item 22880636.	NM_002317.7(LOX):c.893T>G (p.Met298Arg) GRCh37: Chr5:121409850 GRCh38: Chr5:122074155	LOX, SRFBP1	M298R, M68R, M1R	Aortic aneurysm, familial thoracic 10, Familial thoracic aortic aneurysm and aortic dissection	Pathogenic/Likely pathogenic (Feb 19, 2021)	criteria provided, multiple submitters, no conflicts

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Items: 36