"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FBN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316357	NM_000138.5(FBN1):c.*254C>T	FBN1	Single nucleotide variant (3 prime UTR variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GUncertain significance
Select item 200137	NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)	FBN1 (D2860G)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 200136	NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)	FBN1 (K2851E)	Single nucleotide variant (missense variant)	Stiff skin syndrome +9 more	GConflicting classifications of pathogenicity
Select item 922383	NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)	FBN1 (E2846G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 922752	NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)	FBN1 (D2801H)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 406312	NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)	FBN1 (N2767S)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 549458	NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)	FBN1 (N2767D)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 457269	NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)	FBN1 (Q2744H)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 514709	NM_000138.5(FBN1):c.8227-10G>A	FBN1	Single nucleotide variant (intron variant)	not specified +9 more	GLikely benign
Select item 264033	NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)	FBN1 (R2730Q)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 498253	NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)	FBN1 (G2727S)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 652442	NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)	FBN1 (V2687F)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 418202	NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)	FBN1 (P2676L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 36124	NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)	FBN1 (E2667K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 918775	NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)	FBN1 (L2626V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 42434	NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)	FBN1 (G2618R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 406273	NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)	FBN1 (I2616M)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1301311	NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)	FBN1 (A2614T)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 264272	NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)	FBN1 (E2610K)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GPathogenic/Likely pathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +12 more	GPathogenic/Likely pathogenic
Select item 927828	NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)	FBN1 (R2576H)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 858956	NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)	FBN1 (E2566A)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 161241	NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)	FBN1 (R2554W)	Single nucleotide variant (missense variant)	Acromicric dysplasia +9 more	GConflicting classifications of pathogenicity
Select item 919826	NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)	FBN1 (T2516I)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GUncertain significance
Select item 495648	NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +9 more	GLikely benign
Select item 495646	NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)	FBN1 (V2501L)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 504529	NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)	FBN1 (C2500S)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GLikely pathogenic
Select item 923954	NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)	FBN1 (D2485E)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 200113	NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)	FBN1 (Q2477R)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 36115	NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)	FBN1 (P2471R)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GConflicting classifications of pathogenicity
Select item 457260	NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)	FBN1 (Q2467R)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 457258	NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GLikely benign
Select item 161234	NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)	FBN1 (R2414Q)	Single nucleotide variant (missense variant)	Acromicric dysplasia +10 more	GConflicting classifications of pathogenicity
Select item 919338	NM_000138.5(FBN1):c.7236T>C (p.Val2412=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GLikely benign
Select item 573316	NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)	FBN1 (D2404N)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 922761	NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)	FBN1 (M2397V)	Single nucleotide variant (missense variant)	FBN1-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 921089	NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)	FBN1 (R2394Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 42418	NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)	FBN1 (S2361L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GUncertain significance
Select item 886456	NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)	FBN1 (R2355K)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 884560	NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)	FBN1 (E2330K)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 316365	NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)	FBN1 (D2329E)	Single nucleotide variant (missense variant)	not provided +12 more	GBenign/Likely benign
Select item 527165	NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)	FBN1 (D2320G)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 632817	NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)	FBN1 (T2297M)	Single nucleotide variant (missense variant)	Marfan syndrome +11 more	GConflicting classifications of pathogenicity
Select item 626586	NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)	FBN1 (Q2296H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 457253	NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)	FBN1 (R2282Q)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 919355	NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)	FBN1 (G2277E)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 36107	NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)	FBN1 (I2269T)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 925197	NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)	FBN1 (R2242H)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GUncertain significance
Select item 549357	NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)	FBN1 (R2220Q)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 837738	NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)	FBN1 (L2215M)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 1488677	NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)	FBN1 (P2214A)	Single nucleotide variant (missense variant)	MASS syndrome +8 more	GUncertain significance
Select item 643925	NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)	FBN1 (N2208S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GConflicting classifications of pathogenicity
Select item 807242	NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)	FBN1 (M2201V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 649846	NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)	FBN1 (M2201L)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 919296	NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)	FBN1 (E2197A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 927659	NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)	FBN1 (G2187D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 928686	NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)	FBN1 (G2187S)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 519782	NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)	FBN1 (N2178K)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GUncertain significance
Select item 1332324	NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)	FBN1 (N2178S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 857010	NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)	FBN1 (S2171F)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GUncertain significance
Select item 200082	NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)	FBN1 (H2139R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 200081	NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)	FBN1 (D2135N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 629518	NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)	FBN1 (R2108H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 439707	NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)	FBN1 (A2063T)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 938898	NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)	FBN1 (Q2054R)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 316369	NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)	FBN1 (T2032S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GUncertain significance
Select item 457240	NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)	FBN1 (C2017R)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GPathogenic/Likely pathogenic
Select item 200190	NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)	FBN1 (E2009K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 811830	NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)	FBN1 (G2003R)	Single nucleotide variant (missense variant)	See cases +10 more	GUncertain significance
Select item 835183	NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)	FBN1 (I1999V)	Single nucleotide variant (missense variant)	MASS syndrome +8 more	GUncertain significance
Select item 520238	NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)	FBN1 (G1994A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 921917	NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)	FBN1 (T1988I)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GConflicting classifications of pathogenicity
Select item 1388574	NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)	FBN1 (E1980Q)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 264487	NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)	FBN1 (I1974T)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 925249	NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)	FBN1 (N1959S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 920583	NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)	FBN1 (N1959D)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 834675	NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)	FBN1 (I1948V)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GConflicting classifications of pathogenicity
Select item 527199	NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)	FBN1 (V1931I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 263883	NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)	FBN1 (N1926del)	Deletion (inframe_deletion)	Marfan syndrome +9 more	GUncertain significance
Select item 1511415	NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)	FBN1 (H1918R)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1485981	NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)	FBN1 (R1906Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 925107	NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)	FBN1 (T1904I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 928372	NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)	FBN1 (T1868I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 918768	NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)	FBN1 (T1868R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 406289	NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)	FBN1 (S1861N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 1447064	NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)	FBN1 (I1856V)	Single nucleotide variant (missense variant)	Stiff skin syndrome +9 more	GUncertain significance
Select item 618652	NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)	FBN1 (R1840H)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 502437	NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)	FBN1 (Y1839F)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 845508	NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)	FBN1 (N1826S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 925058	NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)	FBN1 (A1822T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 918773	NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)	FBN1 (R1820H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 927991	NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)	FBN1 (V1817M)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 923469	NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)	FBN1 (R1771Q)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 918678	NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)	FBN1 (R1771W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 377861	NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GLikely benign
Select item 926028	NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)	FBN1 (Y1696H)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 515720	NM_000138.5(FBN1):c.5066-12C>T	FBN1	Single nucleotide variant (intron variant)	Acromicric dysplasia +10 more	GLikely benign
Select item 700067	NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 406339	NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)	FBN1 (V1667I)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 698068	NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +8 more	GLikely benign

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