Related gene-specific medical variations for Gene (Select 2200) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 512

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383131	NM_000138.5(FBN1):c.4538G>C (p.Cys1513Ser)	FBN1 (C1513S)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 3383081	NM_000138.5(FBN1):c.3997T>G (p.Cys1333Gly)	FBN1 (C1333G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3382868	NM_000138.5(FBN1):c.8226+5del	FBN1	Deletion (intron variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 3382493	NM_000138.5(FBN1):c.5006_5013del (p.Asn1669fs)	FBN1 (N1669fs)	Deletion (frameshift variant)	Stiff skin syndrome +7 more	GLikely pathogenic
Select item 3382365	NM_000138.5(FBN1):c.3929G>A (p.Gly1310Asp)	FBN1 (G1310D)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3382285	NM_000138.5(FBN1):c.5756G>A (p.Gly1919Asp)	FBN1 (G1919D)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3382252	NM_000138.5(FBN1):c.4475del (p.Leu1492fs)	FBN1 (L1492fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 3382176	NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)	FBN1 (C2442W)	Single nucleotide variant (missense variant)	Marfan syndrome +7 more	GUncertain significance
Select item 3382008	NM_000138.5(FBN1):c.1666del (p.Val556fs)	FBN1 (V556fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 3381954	NM_000138.5(FBN1):c.8547T>G (p.Tyr2849Ter)	FBN1 (Y2849*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 3377526	NM_000138.5(FBN1):c.1098G>A (p.Trp366Ter)	FBN1, LOC113939944 (W366*)	Single nucleotide variant (nonsense)	Thoracic aortic aneurysm or dissection	GPathogenic
Select item 3375809	NM_000138.5(FBN1):c.4336+3A>C	FBN1, LOC126862124	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3369921	NM_000138.5(FBN1):c.998C>G (p.Pro333Arg)	FBN1, LOC113939944 (P333R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366301	NM_000138.5(FBN1):c.3754G>A (p.Gly1252Ser)	FBN1 (G1252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362686	NM_000138.5(FBN1):c.6114T>G (p.Cys2038Trp)	FBN1 (C2038W)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3362270	NM_000138.5(FBN1):c.4223G>T (p.Cys1408Phe)	FBN1 (C1408F)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3362265	NM_000138.5(FBN1):c.661T>C (p.Cys221Arg)	FBN1 (C221R)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant	GUncertain significance
Select item 3359107	NM_000138.5(FBN1):c.5792_5794del (p.Val1931del)	FBN1 (V1931del)	Deletion (inframe_deletion)	Marfan syndrome	GUncertain significance
Select item 3338893	NM_000138.5:c.[7238G>C;7244A>T]	FBN1	Indel	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	GLikely pathogenic
Select item 3338260	NM_000138.5(FBN1):c.5789-1G>C	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GPathogenic
Select item 3337866	NM_000138.5:c.164+10444_347-5190del	FBN1	Deletion	not provided	GPathogenic
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 3243740	NC_000015.9:g.(?_48692137)_(48826328_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243738	NC_000015.9:g.(?_48791030)_(48829850_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243737	NC_000015.9:g.(?_48719801)_(48723343_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243736	NC_000015.9:g.(?_48670502)_(48703332_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243735	NC_000015.9:g.(?_48750861)_(48752488_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243734	NC_000015.9:g.(?_48793703)_(48796070_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243733	NC_000015.9:g.(?_48760115)_(48773997_?)dup	FBN1	Duplication	Marfan syndrome +1 more	GUncertain significance
Select item 3243732	NC_000015.9:g.(?_48826257)_(48826422_?)dup	FBN1	Duplication	Marfan syndrome +1 more	GUncertain significance
Select item 3243731	NC_000015.9:g.(?_48784638)_(48818472_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243730	NC_000015.9:g.(?_48773832)_(48888595_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243729	NC_000015.9:g.(?_48725043)_(48726930_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243727	NC_000015.9:g.(?_48738883)_(48741110_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243726	NC_000015.9:g.(?_48740945)_(48752534_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243725	NC_000015.9:g.(?_48744739)_(48760751_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243724	NC_000015.9:g.(?_48703187)_(48762973_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243723	NC_000015.9:g.(?_48766432)_(48766867_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243722	NC_000015.9:g.(?_48780450)_(48783088_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243721	NC_000015.9:g.(?_48888460)_(48936966_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243720	NC_000015.9:g.(?_48788277)_(48936966_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243719	NC_000015.9:g.(?_48713735)_(48796156_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243718	NC_000015.9:g.(?_48807564)_(48808579_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243714	NC_000015.9:g.(?_48722848)_(48723019_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243713	NC_000015.9:g.(?_48725043)_(48725205_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243712	NC_000015.9:g.(?_48748814)_(48748979_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3243711	NC_000015.9:g.(?_48800759)_(48800921_?)del	FBN1	Deletion	Marfan syndrome +1 more	GPathogenic
Select item 3238852	NM_000138.5(FBN1):c.3107C>G (p.Pro1036Arg)	FBN1 (P1036R)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3237522	NM_000138.5(FBN1):c.7343G>A (p.Cys2448Tyr)	FBN1 (C2448Y)	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 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 3076040	NM_000138.5(FBN1):c.1121dup (p.Pro374_Glu375insTer)	FBN1, LOC113939944	Duplication (frameshift variant)	Marfan syndrome	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 3075108	NM_000138.5(FBN1):c.989A>G (p.Asp330Gly)	FBN1, LOC113939944 (D330G)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
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 3074881	NM_000138.5(FBN1):c.57dup (p.Tyr20fs)	FBN1, LOC130057019 (Y20fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
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 3074457	NM_000138.5(FBN1):c.43G>C (p.Val15Leu)	FBN1, LOC130057019 (V15L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3074277	NM_000138.5(FBN1):c.42C>G (p.Thr14=)	LOC130057019, FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome	GLikely benign
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 3071965	NM_000138.5(FBN1):c.1070A>T (p.Gln357Leu)	FBN1, LOC113939944 (Q357L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3070734	NM_000138.5(FBN1):c.4213C>A (p.Leu1405Ile)	FBN1, LOC126862124 (L1405I)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3070032	NM_000138.5(FBN1):c.4235T>A (p.Leu1412Gln)	FBN1, LOC126862124 (L1412Q)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3069317	NM_000138.5(FBN1):c.4211-3T>C	FBN1, LOC126862124	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely benign
Select item 3068183	NM_000138.5(FBN1):c.5815G>T (p.Gly1939Trp)	FBN1 (G1939W)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3068020	NM_000138.5(FBN1):c.2146G>C (p.Gly716Arg)	FBN1 (G716R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
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 3065897	NM_000138.5(FBN1):c.5708G>T (p.Gly1903Val)	FBN1 (G1903V)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3065823	NM_000138.5(FBN1):c.3500C>A (p.Pro1167His)	FBN1 (P1167H)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3065809	NM_000138.5(FBN1):c.7217G>C (p.Cys2406Ser)	FBN1 (C2406S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 3065407	NM_000138.5(FBN1):c.7140C>G (p.Phe2380Leu)	FBN1 (F2380L)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3064936	NM_000138.5(FBN1):c.248-151A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GUncertain significance
Select item 3064377	NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)	FBN1 (C611Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 3047280	NM_000138.5(FBN1):c.4211-36C>T	FBN1, LOC126862124	Single nucleotide variant (intron variant)	FBN1-related disorder	GLikely benign
Select item 3042479	NM_000138.5(FBN1):c.1053G>A (p.Gln351=)	FBN1, LOC113939944	Single nucleotide variant (synonymous variant)	FBN1-related disorder	GLikely benign
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 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 2952008	NM_000138.5(FBN1):c.992T>A (p.Val331Asp)	FBN1, LOC113939944 (V331D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 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 2949991	NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)	FBN1, LOC126862124 (C1408S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 2949259	NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)	FBN1, LOC130057019 (A25S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 2947658	NM_000138.5(FBN1):c.991G>A (p.Val331Ile)	FBN1, LOC113939944 (V331I)	Single nucleotide variant (missense variant)	Marfan syndrome +1 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 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 2945156	NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)	FBN1, LOC126862124 (G1418fs)	Insertion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
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 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 2938376	NM_000138.5(FBN1):c.4211-2A>G	FBN1, LOC126862124	Single nucleotide variant (splice acceptor variant)	Marfan syndrome +1 more	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 2936689	NM_000138.5(FBN1):c.63G>C (p.Thr21=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 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 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 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 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 2773394	NM_000138.5(FBN1):c.989-6C>A	FBN1, LOC113939944	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2773393	NM_000138.5(FBN1):c.989A>T (p.Asp330Val)	FBN1, LOC113939944 (D330V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2691180	NM_000138.5(FBN1):c.991del (p.Val331fs)	LOC113939944, FBN1 (V331fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely 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

<< First< Prev

Page of 6