LOC126862124[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 457152	NC_000015.10:g.(?_48410970)_(48644789_?)del	FBN1, LOC113939944 +5 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 457151	NC_000015.10:g.(?_48410970)_(48537828_?)del	FBN1, LOC113939944 +3 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 457150	NC_000015.10:g.(?_48410970)_(48497411_?)del	FBN1, LOC126862124	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3075999	NC_000015.10:g.(?_48410990)_(48644769_?)del	LOC126862124, FBN1 +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 144202	GRCh38/hg38 15q21.1(chr15:48436038-48501606)x3	FBN1, LOC126862124	Copy number gain	See cases	GPathogenic
Select item 641001	NC_000015.10:g.(?_48460226)_(48499058_?)del	FBN1, LOC126862124	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 584214	NC_000015.10:g.(?_48470614)_(48499058_?)del	FBN1, LOC126862124	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1249381	NM_000138.5(FBN1):c.4336+73dup	FBN1, LOC126862124	Duplication (intron variant)	not provided	GBenign
Select item 1186603	NM_000138.5(FBN1):c.4336+73_4336+74dup	FBN1, LOC126862124	Duplication (intron variant)	not provided	GLikely benign
Select item 1291514	NM_000138.5(FBN1):c.4336+92del	FBN1, LOC126862124	Deletion (intron variant)	not provided	GBenign
Select item 1536221	NM_000138.5(FBN1):c.4336+19A>G	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2944216	NM_000138.5(FBN1):c.4336+4_4336+11dup	FBN1, LOC126862124	Duplication (intron variant)	Marfan syndrome +1 more	GLikely benign
Select item 316374	NM_000138.5(FBN1):c.4336+11G>A	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Stiff skin syndrome +6 more	GUncertain significance
Select item 1638345	NM_000138.5(FBN1):c.4336+10G>C	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Marfan syndrome +1 more	GLikely benign
Select item 1914705	NM_000138.5(FBN1):c.4336+9T>A	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 439698	NM_000138.5(FBN1):c.4336+7G>T	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GLikely benign
Select item 927870	NM_000138.5(FBN1):c.4336+4A>G	LOC126862124, FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 519751	NM_000138.5(FBN1):c.4336+4A>C	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GUncertain significance
Select item 3375809	NM_000138.5(FBN1):c.4336+3A>C	FBN1, LOC126862124	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1171835	NM_000138.5(FBN1):c.4336+3A>G	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1457971	NM_000138.5(FBN1):c.4336+1G>A	FBN1, LOC126862124	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1456344	NM_000138.5(FBN1):c.4336+1G>T	FBN1, LOC126862124	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 200042	NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn)	FBN1, LOC126862124 (D1446N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1380215	NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp)	FBN1, LOC126862124 (C1444W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 3230417	NM_000138.5(FBN1):c.4331G>T (p.Cys1444Phe)	LOC126862124, FBN1 (C1444F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1453863	NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser)	FBN1, LOC126862124 (C1444S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 263831	NM_000138.5(FBN1):c.4331G>A (p.Cys1444Tyr)	FBN1, LOC126862124 (C1444Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2691174	NM_000138.5(FBN1):c.4330T>C (p.Cys1444Arg)	FBN1, LOC126862124 (C1444R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 222604	NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	FBN1, LOC126862124 (C1444S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 925008	NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)	LOC126862124, FBN1 (A1443V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 2184029	NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)	FBN1, LOC126862124 (A1443T)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 2924680	NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)	FBN1, LOC126862124 (G1441W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 495607	NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)	FBN1, LOC126862124 (G1441R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 547320	NM_000138.5(FBN1):c.4320C>T (p.Asp1440=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 691636	NM_000138.5(FBN1):c.4319del (p.Asp1440fs)	FBN1, LOC126862124 (D1440fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 457209	NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)	FBN1, LOC126862124 (A1439G)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 264533	NM_000138.5(FBN1):c.4316C>T (p.Ala1439Val)	FBN1, LOC126862124 (A1439V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 155792	NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)	FBN1, LOC126862124 (S1438N)	Single nucleotide variant (missense variant)	Ectopia lentis +8 more	GConflicting classifications of pathogenicity
Select item 848754	NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly)	FBN1, LOC126862124 (S1438G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1339755	NM_000138.5(FBN1):c.4311del (p.Ser1438fs)	FBN1, LOC126862124 (S1438fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 923131	NM_000138.5(FBN1):c.4309C>G (p.Pro1437Ala)	FBN1, LOC126862124 (P1437A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1704484	NM_000138.5(FBN1):c.4308G>A (p.Val1436=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 426624	NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)	FBN1, LOC126862124 (V1436L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 42356	NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)	LOC126862124, FBN1 (V1436M)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +12 more	GConflicting classifications of pathogenicity
Select item 1086005	NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1171711	NM_000138.5(FBN1):c.4304T>C (p.Phe1435Ser)	FBN1, LOC126862124 (F1435S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 953240	NM_000138.5(FBN1):c.4302del (p.Phe1435fs)	FBN1, LOC126862124 (F1435fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 549220	NM_000138.5(FBN1):c.4301_4302insAG (p.Phe1435fs)	FBN1, LOC126862124 (F1435fs)	Insertion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 549221	NM_000138.5(FBN1):c.4301del (p.Gly1434fs)	FBN1, LOC126862124 (G1434fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 2937682	NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)	FBN1, LOC126862124 (G1434C)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 1929753	NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)	FBN1, LOC126862124 (M1433L)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 3067747	NM_000138.5(FBN1):c.4294G>C (p.Asp1432His)	FBN1, LOC126862124 (D1432H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 922236	NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)	FBN1, LOC126862124 (D1432N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 457208	NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 457207	NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp)	FBN1, LOC126862124 (C1431W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 457201	NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter)	FBN1, LOC126862124 (C1431*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 549219	NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr)	FBN1, LOC126862124 (C1431Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 3075766	NM_000138.5(FBN1):c.4291T>C (p.Cys1431Arg)	FBN1, LOC126862124 (C1431R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3277948	NM_000138.5(FBN1):c.4284_4288dup (p.Glu1430fs)	FBN1, LOC126862124 (E1430fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 549217	NM_000138.5(FBN1):c.4287_4288del (p.Cys1429_Glu1430delinsTer)	FBN1, LOC126862124	Microsatellite (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 549218	NM_000138.5(FBN1):c.4287T>G (p.Cys1429Trp)	FBN1, LOC126862124 (C1429W)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 549216	NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr)	FBN1, LOC126862124 (C1429Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 549215	NM_000138.5(FBN1):c.4285T>A (p.Cys1429Ser)	FBN1, LOC126862124 (C1429S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 3234666	NM_000138.5(FBN1):c.4284C>T (p.Arg1428=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626881	NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)	FBN1, LOC126862124 (R1428H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 1001086	NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly)	FBN1, LOC126862124 (R1428G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 660076	NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)	FBN1, LOC126862124 (R1428C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 2946184	NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)	FBN1, LOC126862124 (Y1427*)	Duplication (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 2567905	NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1073346	NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter)	FBN1, LOC126862124 (Y1427*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 449440	NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)	FBN1, LOC126862124 (Y1427C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 920374	NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)	FBN1, LOC126862124 (G1426A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 641887	NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg)	FBN1, LOC126862124 (G1426R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 1332357	NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2442980	NM_000138.5(FBN1):c.4271C>T (p.Pro1424Leu)	FBN1, LOC126862124 (P1424L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1073640	NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser)	FBN1, LOC126862124 (P1424S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 42355	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	LOC126862124, FBN1 (P1424A)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +12 more	GConflicting classifications of pathogenicity
Select item 920198	NM_000138.5(FBN1):c.4269A>T (p.Ala1423=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2498190	NM_000138.5(FBN1):c.4265del (p.Asn1422fs)	FBN1, LOC126862124 (N1422fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 372659	NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser)	FBN1, LOC126862124 (N1422S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2170563	NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 1025680	NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro)	FBN1, LOC126862124 (L1421P)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 2950251	NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)	FBN1, LOC126862124 (C1420S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 427006	NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe)	FBN1, LOC126862124 (C1420F)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 42354	NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr)	FBN1, LOC126862124 (C1420Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42353	NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del)	FBN1, LOC126862124	Deletion (inframe_deletion)	Marfan syndrome	GLikely pathogenic
Select item 41409	NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs)	FBN1, LOC126862124 (G1418fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 1073227	NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg)	FBN1, LOC126862124 (C1420R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 2773344	NM_000138.5(FBN1):c.4257G>T (p.Gln1419His)	LOC126862124, FBN1 (Q1419H)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 2413173	NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter)	FBN1, LOC126862124 (Q1419*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 2935164	NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2945156	NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)	FBN1, LOC126862124 (G1418fs)	Insertion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 982321	NM_000138.5(FBN1):c.4253G>A (p.Gly1418Asp)	FBN1, LOC126862124 (G1418D)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm	GUncertain significance
Select item 418196	NM_000138.5(FBN1):c.4252G>T (p.Gly1418Cys)	FBN1, LOC126862124 (G1418C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1112504	NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 976206	NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)	FBN1, LOC126862124 (N1417S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549213	NM_000138.5(FBN1):c.4245T>C (p.Cys1415=)	FBN1, LOC126862124	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 977687	NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)	FBN1, LOC126862124 (C1415fs)	Duplication (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 457206	NM_000138.5(FBN1):c.4244G>A (p.Cys1415Tyr)	FBN1, LOC126862124 (C1415Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic

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