4015[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	AP3S1, APC +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 1270158	NM_002317.7(LOX):c.*154A>G	LOX, SRFBP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2000823	NM_002317.7(LOX):c.1254G>C (p.Ter418Tyr)	LOX, SRFBP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2970418	NM_002317.7(LOX):c.1248-20_1248-11del	LOX, SRFBP1	Deletion (intron variant)	not provided	GBenign
Select item 2997980	NM_002317.7(LOX):c.1248-15G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277270	NM_002317.7(LOX):c.1248-153G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219199	NM_002317.7(LOX):c.1248-327C>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630118	NM_002317.7(LOX):c.1247+5G>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	LOX-related condition +1 more	GUncertain significance
Select item 2750181	NM_002317.7(LOX):c.1247+4A>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1759715	NM_002317.7(LOX):c.1247+1G>C	LOX, SRFBP1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1512706	NM_002317.7(LOX):c.1247+1G>A	LOX, SRFBP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1313512	NM_002317.7(LOX):c.1247C>T (p.Pro416Leu)	LOX, SRFBP1 (P119L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936019	NM_002317.7(LOX):c.1242T>C (p.Ile414=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1756950	NM_002317.7(LOX):c.1236C>T (p.Cys412=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1756158	NM_002317.7(LOX):c.1233C>T (p.Gly411=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2873468	NM_002317.7(LOX):c.1232G>C (p.Gly411Ala)	LOX, SRFBP1 (G181A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755946	NM_002317.7(LOX):c.1232G>T (p.Gly411Val)	LOX, SRFBP1 (G114V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1921669	NM_002317.7(LOX):c.1227C>T (p.Ala409=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708582	NM_002317.7(LOX):c.1225G>A (p.Ala409Thr)	LOX, SRFBP1 (A112T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2673022	NM_002317.7(LOX):c.1224T>G (p.Tyr408Ter)	LOX, SRFBP1 (Y111* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1992745	NM_002317.7(LOX):c.1221_1222dup (p.Tyr408fs)	LOX, SRFBP1 (Y178fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 547513	NM_002317.7(LOX):c.1222T>C (p.Tyr408His)	LOX, SRFBP1 (Y408H +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1753246	NM_002317.7(LOX):c.1221G>A (p.Ala407=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1940959	NM_002317.7(LOX):c.1220C>G (p.Ala407Gly)	LOX, SRFBP1 (A110G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397750	NM_002317.7(LOX):c.1214_1220del (p.His405fs)	LOX, SRFBP1 (H108fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1386556	NM_002317.7(LOX):c.1220C>T (p.Ala407Val)	LOX, SRFBP1 (A177V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1752483	NM_002317.7(LOX):c.1219G>A (p.Ala407Thr)	LOX, SRFBP1 (A177T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751557	NM_002317.7(LOX):c.1215T>C (p.His405=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1376088	NM_002317.7(LOX):c.1207A>G (p.Thr403Ala)	LOX, SRFBP1 (T106A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2575661	NM_002317.7(LOX):c.1202G>A (p.Arg401His)	LOX, SRFBP1 (R104H +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 1801043	NM_002317.7(LOX):c.1186G>A (p.Val396Met)	LOX, SRFBP1 (V166M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1742647	NM_002317.7(LOX):c.1182T>C (p.Asn394=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740768	NM_002317.7(LOX):c.1176C>T (p.Thr392=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1740527	NM_002317.7(LOX):c.1175C>T (p.Thr392Ile)	LOX, SRFBP1 (T392I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2839495	NM_002317.7(LOX):c.1169A>C (p.Asp390Ala)	LOX, SRFBP1 (D390A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007540	NM_002317.7(LOX):c.1160C>T (p.Pro387Leu)	LOX, SRFBP1 (P157L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481879	NM_002317.7(LOX):c.1159C>G (p.Pro387Ala)	LOX, SRFBP1 (P157A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001854	NM_002317.7(LOX):c.1156G>A (p.Val386Ile)	LOX, SRFBP1 (V386I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1735204	NM_002317.7(LOX):c.1155G>A (p.Leu385=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2825947	NM_002317.7(LOX):c.1151A>T (p.Tyr384Phe)	LOX, SRFBP1 (Y384F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805905	NM_002317.7(LOX):c.1150T>C (p.Tyr384His)	LOX, SRFBP1 (Y384H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100766	NM_002317.7(LOX):c.1148del (p.Ser383fs)	LOX, SRFBP1 (S153fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1731068	NM_002317.7(LOX):c.1140A>G (p.Val380=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2691194	NM_002317.7(LOX):c.1137T>C (p.Ser379=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 2023311	NM_002317.7(LOX):c.1132-5C>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1331281	NM_002317.7(LOX):c.1132-10T>A	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1929904	NM_002317.7(LOX):c.1132-15C>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989148	NM_002317.7(LOX):c.1132-16T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2801037	NM_002317.7(LOX):c.1132-18A>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549814	NM_002317.7(LOX):c.1132-19A>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249178	NM_002317.7(LOX):c.1131+110dup	LOX, SRFBP1	Duplication (intron variant)	not provided	GBenign
Select item 2038932	NM_002317.7(LOX):c.1131+7A>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 424133	NM_002317.7(LOX):c.1131+1_1131+6del	LOX, SRFBP1	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1798930	NM_002317.7(LOX):c.1125C>T (p.Ile375=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1712227	NM_002317.7(LOX):c.1123A>C (p.Ile375Leu)	SRFBP1, LOX (I145L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1796265	NM_002317.7(LOX):c.1116A>G (p.Gly372=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1463041	NM_002317.7(LOX):c.1111C>G (p.Pro371Ala)	LOX, SRFBP1 (P141A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2839807	NM_002317.7(LOX):c.1105G>A (p.Val369Ile)	SRFBP1, LOX (V139I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1380595	NM_002317.7(LOX):c.1097T>C (p.Ile366Thr)	LOX, SRFBP1 (I366T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894964	NM_002317.7(LOX):c.1096A>G (p.Ile366Val)	LOX, SRFBP1 (I366V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754652	NM_002317.7(LOX):c.1091T>C (p.Ile364Thr)	LOX, SRFBP1 (I364T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753069	NM_002317.7(LOX):c.1090A>G (p.Ile364Val)	LOX, SRFBP1 (I364V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604736	NM_002317.7(LOX):c.1080C>A (p.Asp360Glu)	LOX, SRFBP1 (D130E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1594086	NM_002317.7(LOX):c.1080C>T (p.Asp360=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 809787	NM_002317.7(LOX):c.1078G>A (p.Asp360Asn)	LOX, SRFBP1 (D360N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985962	NM_002317.7(LOX):c.1076T>C (p.Ile359Thr)	LOX, SRFBP1 (I129T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011868	NM_002317.7(LOX):c.1074C>T (p.Asp358=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1781668	NM_002317.7(LOX):c.1065T>C (p.Tyr355=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1205595	NM_002317.7(LOX):c.1062C>A (p.Thr354=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1454248	NM_002317.7(LOX):c.1056T>G (p.Tyr352Ter)	SRFBP1, LOX (Y122* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2748328	NM_002317.7(LOX):c.1051T>C (p.Cys351Arg)	LOX, SRFBP1 (C351R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017979	NM_002317.7(LOX):c.1047T>C (p.Pro349=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided	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 2693057	NM_002317.7(LOX):c.1043G>A (p.Ser348Asn)	LOX, SRFBP1 (S51N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1947472	NM_002317.7(LOX):c.1036-3T>G	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1460513	NM_002317.7(LOX):c.1036-11_1036-8del	LOX, SRFBP1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1181166	NM_002317.7(LOX):c.1035+225T>C	SRFBP1, LOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2814911	NM_002317.7(LOX):c.1035+9G>T	LOX, SRFBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1407636	NM_002317.7(LOX):c.1035+4T>C	LOX, SRFBP1	Single nucleotide variant (intron variant)	LOX-related condition +2 more	GConflicting classifications of pathogenicity
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 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 1772033	NM_002317.7(LOX):c.1034A>G (p.Gln345Arg)	LOX, SRFBP1 (Q48R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1960367	NM_002317.7(LOX):c.1030A>T (p.Thr344Ser)	LOX, SRFBP1 (T114S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462916	NM_002317.7(LOX):c.1030A>G (p.Thr344Ala)	LOX, SRFBP1 (T114A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1770079	NM_002317.7(LOX):c.1028A>T (p.His343Leu)	SRFBP1, LOX (H113L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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