ClinVar for PubMed (Select 19839986) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075999	NC_000015.10:g.(?_48410990)_(48644769_?)del	FBN1, LOC113939944 +5 more	Deletion	Marfan syndrome	GPathogenic
Select item 2950335	NM_000138.5(FBN1):c.5862C>G (p.Phe1954Leu)	FBN1 (F1954L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 2925553	NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)	FBN1 (C1526S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 2922104	NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)	FBN1 (C1900R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 2920902	NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)	FBN1 (C1526R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2572452	NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)	FBN1 (C1526F)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 2137711	NM_000138.5(FBN1):c.509dup (p.Tyr170Ter)	FBN1 (Y170*)	Duplication (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1749177	NM_000138.5(FBN1):c.5700T>G (p.Cys1900Trp)	FBN1 (C1900W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 1735367	NM_000138.5(FBN1):c.3833G>C (p.Cys1278Ser)	FBN1 (C1278S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 1516484	NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)	FBN1 (G2627A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1434271	NM_000138.5(FBN1):c.2483_2500del (p.Phe828_Ser833del)	FBN1	Deletion (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1380036	NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)	FBN1 (C67R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 1355106	NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn)	FBN1 (D613N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 1071751	NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter)	FBN1 (Q1618*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 963640	NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)	FBN1 (C832F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 962932	NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr)	FBN1 (C821Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 953109	NM_000138.5(FBN1):c.200G>T (p.Cys67Phe)	FBN1 (C67F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 915615	NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)	FBN1 (R1632H)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 884751	NM_000138.5(FBN1):c.6379+4A>G	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GBenign/Likely benign
Select item 853703	NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr)	FBN1 (A882T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 636961	NM_000138.5(FBN1):c.7330+3_7330+6del	FBN1	Deletion (splice donor variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 549298	NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe)	FBN1 (C1900F)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 547326	NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr)	FBN1 (C1674Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 546101	NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)	FBN1 (A1152V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 527158	NM_000138.5(FBN1):c.1837+5G>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +10 more	GPathogenic/Likely pathogenic
Select item 519723	NM_000138.5(FBN1):c.2463C>G (p.Cys821Trp)	FBN1 (C821W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 495582	NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)	FBN1 (R954C)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +4 more	GPathogenic/Likely pathogenic
Select item 457175	NM_000138.5(FBN1):c.2677+5G>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +1 more	GUncertain significance
Select item 449756	NM_000138.5(FBN1):c.7880G>A (p.Gly2627Glu)	FBN1 (G2627E)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GLikely pathogenic
Select item 420086	NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr)	FBN1 (C748Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 419823	NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)	FBN1 (L2842fs)	Deletion (frameshift variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GPathogenic/Likely pathogenic
Select item 413890	NM_000138.5(FBN1):c.2892C>T (p.Asp964=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 372606	NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)	FBN1 (G2627R)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more	GLikely pathogenic
Select item 364148	NM_004612.4(TGFBR1):c.*2645A>C	TGFBR1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 264314	NM_000138.5(FBN1):c.4577G>A (p.Cys1526Tyr)	FBN1 (C1526Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 200186	NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter)	FBN1 (R1644*)	Single nucleotide variant (nonsense)	Isolated thoracic aortic aneurysm +4 more	GPathogenic/Likely pathogenic
Select item 200104	NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg)	FBN1 (W2371R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 200066	NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr)	FBN1 (C1900Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 200001	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1 (A882V)	Single nucleotide variant (missense variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome +11 more	GPathogenic/Likely pathogenic
Select item 180357	NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)	FBN1 (F1954C)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 179632	NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)	FBN1 (R1125*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 163486	NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)	FBN1, LOC130057019 (A27T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 163461	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	FBN1 (R2694*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 161242	NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)	FBN1 (A686T)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GConflicting classifications of pathogenicity
Select item 161240	NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)	FBN1 (R2694Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 161236	NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)	FBN1 (S2832G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 137312	NM_000138.5(FBN1):c.6997+17C>G	FBN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 42312	NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp)	FBN1 (C832W)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42311	NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr)	FBN1 (C832Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 36122	NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)	FBN1 (G2627R)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +2 more	GPathogenic/Likely pathogenic
Select item 36049	NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter)	FBN1 (C811*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 16466	NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)	FBN1 (R485C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 16452	NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter)	FBN1 (R529*)	Single nucleotide variant (nonsense)	Marfan syndrome +4 more	GPathogenic
Select item 16440	NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	FBN1 (R122C)	Single nucleotide variant (missense variant)	not provided +14 more	GPathogenic

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Items: 54