LOC113939944[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 3075999	NC_000015.10:g.(?_48410990)_(48644769_?)del	LOC126862124, FBN1 +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 16467	NC_000015.9:g.48793164_49095744del	LOC130057021, LOC130057022 +10 more	Deletion	Marfan syndrome	GPathogenic
Select item 457156	NC_000015.10:g.(?_48508562)_(48644789_?)del	FBN1, LOC113939944 +3 more	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 2570583	NC_000015.10:g.(48508704_48510046)_(48526257_48534080)del	FBN1, LOC113939944 +1 more	Deletion	Weill-Marchesani syndrome 2, dominant	GLikely pathogenic
Select item 255285	NM_000138.5(FBN1):c.1147+28A>G	FBN1, LOC113939944	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 583712	NC_000015.10:g.(?_48520639)_(48520837_?)del	FBN1, LOC113939944	Deletion	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 527238	NC_000015.9:g.(?_48812836)_(48905309_?)dup	LOC130057018, FBN1 +2 more	Duplication	Marfan syndrome +1 more	GLikely pathogenic
Select item 513130	NM_000138.5(FBN1):c.1147+20T>C	FBN1, LOC113939944	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 984499	NM_000138.5(FBN1):c.1147+19A>G	LOC113939944, FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1552132	NM_000138.5(FBN1):c.1147+16G>A	FBN1, LOC113939944	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1732742	NM_000138.5(FBN1):c.1147_1147+9del	FBN1, LOC113939944	Deletion (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1135652	NM_000138.5(FBN1):c.1147+7G>A	FBN1, LOC113939944	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 928091	NM_000138.5(FBN1):c.1147+4A>G	FBN1, LOC113939944	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2953096	NM_000138.5(FBN1):c.1128_1147+2dup	FBN1, LOC113939944	Duplication (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 651638	NM_000138.5(FBN1):c.1147+3A>C	FBN1, LOC113939944	Single nucleotide variant (intron variant)	Marfan syndrome +1 more	GUncertain significance
Select item 1481304	NM_000138.5(FBN1):c.1147+2T>A	FBN1, LOC113939944	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 982351	NM_000138.5(FBN1):c.1147+1G>A	FBN1, LOC113939944	Single nucleotide variant (splice donor variant)	Isolated thoracic aortic aneurysm	GLikely pathogenic
Select item 931435	NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter)	FBN1, LOC113939944 (E383*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 200177	NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)	FBN1, LOC113939944 (E383K)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 514304	NM_000138.5(FBN1):c.1146C>T (p.Thr382=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2177788	NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)	FBN1, LOC113939944 (T382I)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 928435	NM_000138.5(FBN1):c.1145C>G (p.Thr382Ser)	FBN1, LOC113939944 (T382S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1940155	NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)	FBN1, LOC113939944 (T382A)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 3072974	NM_000138.5(FBN1):c.1141G>A (p.Ala381Thr)	LOC113939944, FBN1 (A381T)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 583096	NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter)	FBN1, LOC113939944 (R380*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 406292	NM_000138.5(FBN1):c.1134del (p.Ile379fs)	LOC113939944, FBN1 (I379fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 1512654	NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg)	FBN1, LOC113939944 (P378R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 807249	NM_000138.5(FBN1):c.1131T>C (p.Cys377=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 803097	NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)	LOC113939944, FBN1 (C377Y)	Single nucleotide variant (missense variant)	Achondroplasia +2 more	GLikely pathogenic
Select item 2927220	NM_000138.5(FBN1):c.1129T>G (p.Cys377Gly)	FBN1, LOC113939944 (C377G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 264158	NM_000138.5(FBN1):c.1129T>C (p.Cys377Arg)	LOC113939944, FBN1 (C377R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 2689054	NM_000138.5(FBN1):c.1128G>T (p.Met376Ile)	FBN1, LOC113939944 (M376I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2153030	NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)	FBN1, LOC113939944 (E375D)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 3076040	NM_000138.5(FBN1):c.1121dup (p.Pro374_Glu375insTer)	FBN1, LOC113939944	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 1694744	NM_000138.5(FBN1):c.1122T>G (p.Pro374=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498040	NM_000138.5(FBN1):c.1120C>T (p.Pro374Ser)	FBN1, LOC113939944 (P374S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016320	NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)	LOC113939944, FBN1 (A373D)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 919888	NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)	FBN1, LOC113939944 (A373V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 2691171	NM_000138.5(FBN1):c.1117del (p.Ala373fs)	FBN1, LOC113939944 (A373fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 519753	NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)	FBN1, LOC113939944 (A373T)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 629642	NM_000138.5(FBN1):c.1116C>T (p.Val372=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3074868	NM_000138.5(FBN1):c.1114G>A (p.Val372Ile)	FBN1, LOC113939944 (V372I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 1171520	NM_000138.5(FBN1):c.1114G>C (p.Val372Leu)	FBN1, LOC113939944 (V372L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2933223	NM_000138.5(FBN1):c.1113T>C (p.Thr371=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 919876	NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)	FBN1, LOC113939944 (V370F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2943319	NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)	FBN1, LOC113939944 (G369A)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 2193954	NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)	FBN1, LOC113939944 (S367F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 837209	NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro)	FBN1, LOC113939944 (S367P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 647600	NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)	FBN1, LOC113939944 (W366C)	Single nucleotide variant (missense variant)	FBN1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 549004	NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys)	FBN1, LOC113939944 (W366C)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2152242	NM_000138.5(FBN1):c.1097G>C (p.Trp366Ser)	FBN1, LOC113939944 (W366S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 1314179	NM_000138.5(FBN1):c.1096T>C (p.Trp366Arg)	FBN1, LOC113939944 (W366R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 42282	NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter)	FBN1, LOC113939944 (C365*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 1004623	NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)	FBN1, LOC113939944 (R364Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 199964	NM_000138.5(FBN1):c.1091G>C (p.Arg364Pro)	FBN1, LOC113939944 (R364P)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 951716	NM_000138.5(FBN1):c.1090del (p.Arg364fs)	FBN1, LOC113939944 (R364fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 920432	NM_000138.5(FBN1):c.1090C>G (p.Arg364Gly)	FBN1, LOC113939944 (R364G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 199963	NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	FBN1, LOC113939944 (R364*)	Single nucleotide variant (nonsense)	Isolated thoracic aortic aneurysm +5 more	GPathogenic/Likely pathogenic
Select item 2021475	NM_000138.5(FBN1):c.1075_1089del (p.Cys359_Gly363del)	FBN1, LOC113939944	Deletion (inframe_deletion +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 920517	NM_000138.5(FBN1):c.1089C>A (p.Gly363=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 495553	NM_000138.5(FBN1):c.1088del (p.Gly363fs)	FBN1, LOC113939944 (G363fs)	Deletion (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 576755	NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)	FBN1, LOC113939944 (G363S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 457158	NM_000138.5(FBN1):c.1086C>T (p.Ala362=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 1171240	NM_000138.5(FBN1):c.1085C>T (p.Ala362Val)	FBN1, LOC113939944 (A362V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1040606	NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)	LOC113939944, FBN1 (D361V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1453650	NM_000138.5(FBN1):c.1074_1081del (p.Cys358_Asp361delinsTer)	FBN1, LOC113939944	Deletion (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 457157	NM_000138.5(FBN1):c.1079G>A (p.Cys360Tyr)	FBN1, LOC113939944 (C360Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 1076563	NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe)	FBN1, LOC113939944 (C359F)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 549003	NM_000138.5(FBN1):c.1076G>A (p.Cys359Tyr)	LOC113939944, FBN1 (C359Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 549002	NM_000138.5(FBN1):c.1075T>C (p.Cys359Arg)	FBN1, LOC113939944 (C359R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 2567907	NM_000138.5(FBN1):c.1074C>T (p.Cys358=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1784344	NM_000138.5(FBN1):c.1074C>G (p.Cys358Trp)	FBN1, LOC113939944 (C358W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 523911	NM_000138.5(FBN1):c.1074C>A (p.Cys358Ter)	LOC113939944, FBN1 (C358*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 549001	NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)	FBN1, LOC113939944 (C358Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 2921976	NM_000138.5(FBN1):c.1072T>A (p.Cys358Ser)	FBN1, LOC113939944 (C358S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 3074922	NM_000138.5(FBN1):c.1071G>A (p.Gln357=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
Select item 3071965	NM_000138.5(FBN1):c.1070A>T (p.Gln357Leu)	FBN1, LOC113939944 (Q357L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 834308	NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter)	FBN1, LOC113939944 (Q357*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 2953440	NM_000138.5(FBN1):c.1061_1067dup (p.Met356fs)	FBN1, LOC113939944 (M356fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 2002802	NM_000138.5(FBN1):c.1067dup (p.Met356fs)	FBN1, LOC113939944 (M356fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 549000	NM_000138.5(FBN1):c.1066del (p.Met356fs)	LOC113939944, FBN1 (M356fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 2945769	NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)	FBN1, LOC113939944 (I353V)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 926390	NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)	FBN1, LOC113939944 (I353L)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 3042479	NM_000138.5(FBN1):c.1053G>A (p.Gln351=)	LOC113939944, FBN1	Single nucleotide variant (synonymous variant)	FBN1-related disorder	GLikely benign
Select item 1677349	NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg)	FBN1, LOC113939944 (Q351R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1452978	NM_000138.5(FBN1):c.1051_1052del (p.Gln351fs)	FBN1, LOC113939944 (Q351fs)	Microsatellite (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 42280	NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter)	FBN1, LOC113939944 (Q351*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 2102252	NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)	FBN1, LOC113939944 (P350S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 265446	NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)	FBN1, LOC113939944 (Q348*)	Single nucleotide variant (nonsense)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 1541305	NM_000138.5(FBN1):c.1038T>A (p.Ser346=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 177856	NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro)	FBN1, LOC113939944 (S346P)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 658857	NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter)	FBN1, LOC113939944 (C345*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 2632875	NM_000138.5(FBN1):c.1033T>C (p.Cys345Arg)	FBN1, LOC113939944 (C345R)	Single nucleotide variant (missense variant)	FBN1-related disorder	GUncertain significance
Select item 1556523	NM_000138.5(FBN1):c.1032C>T (p.Arg344=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 857534	NM_000138.5(FBN1):c.997_1032del (p.Pro333_Arg344del)	FBN1, LOC113939944	Deletion (inframe_deletion)	Marfan syndrome +1 more	GLikely pathogenic
Select item 1171659	NM_000138.5(FBN1):c.1031G>A (p.Arg344His)	FBN1, LOC113939944 (R344H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 519711	NM_000138.5(FBN1):c.1031G>C (p.Arg344Pro)	LOC113939944, FBN1 (R344P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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