"Color Diagnostics, LLC DBA Color Health"[submitter] AND "FBN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 457272	NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 927302	NM_000138.5(FBN1):c.8608C>T (p.Leu2870Phe)	FBN1 (L2870F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1414872	NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)	FBN1 (L2869S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1171543	NM_000138.5(FBN1):c.8602G>A (p.Val2868Ile)	FBN1 (V2868I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 925519	NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 926615	NM_000138.5(FBN1):c.8595A>C (p.Lys2865Asn)	FBN1 (K2865N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 919100	NM_000138.5(FBN1):c.8593A>G (p.Lys2865Glu)	FBN1 (K2865E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 926955	NM_000138.5(FBN1):c.8586G>A (p.Leu2862=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 1332183	NM_000138.5(FBN1):c.8567G>A (p.Gly2856Asp)	FBN1 (G2856D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1386962	NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly)	FBN1 (D2852G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1171424	NM_000138.5(FBN1):c.8554G>A (p.Asp2852Asn)	FBN1 (D2852N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 200136	NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)	FBN1 (K2851E)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 921035	NM_000138.5(FBN1):c.8545T>A (p.Tyr2849Asn)	FBN1 (Y2849N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 228689	NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)	FBN1 (K2848T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 513328	NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)	FBN1 (K2848Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1172081	NM_000138.5(FBN1):c.8538A>C (p.Glu2846Asp)	FBN1 (E2846D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 922325	NM_000138.5(FBN1):c.8533C>G (p.Leu2845Val)	FBN1 (L2845V)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 700620	NM_000138.5(FBN1):c.8533C>T (p.Leu2845=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 924542	NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)	FBN1 (L2842F)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 2775393	NM_000138.5(FBN1):c.8503C>A (p.Pro2835Thr)	FBN1 (P2835T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 36132	NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 927102	NM_000138.5(FBN1):c.8501C>T (p.Thr2834Ile)	FBN1 (T2834I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 921090	NM_000138.5(FBN1):c.8498G>C (p.Ser2833Thr)	FBN1 (S2833T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1612616	NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 918186	NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn)	FBN1 (S2832N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 161236	NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)	FBN1 (S2832G)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 925385	NM_000138.5(FBN1):c.8493C>G (p.Ile2831Met)	FBN1 (I2831M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 928292	NM_000138.5(FBN1):c.8487A>G (p.Leu2829=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 923409	NM_000138.5(FBN1):c.8468T>C (p.Val2823Ala)	FBN1 (V2823A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1065169	NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 377864	NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GBenign/Likely benign
Select item 2930859	NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)	FBN1 (S2813N)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 263910	NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 920916	NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)	FBN1 (G2811E)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 922752	NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)	FBN1 (D2801H)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 571314	NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)	FBN1 (E2796K)	Single nucleotide variant (missense variant)	Marfan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 42444	NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)	FBN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 927358	NM_000138.5(FBN1):c.8365A>C (p.Asn2789His)	FBN1 (N2789H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 593090	NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 263832	NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)	FBN1 (T2788M)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenignFDA Recognized database
Select item 926513	NM_000138.5(FBN1):c.8361G>C (p.Leu2787=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 406302	NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)	FBN1 (R2776Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 519775	NM_000138.5(FBN1):c.8326C>G (p.Arg2776Gly)	FBN1 (R2776G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 36129	NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)	FBN1 (V2771I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 316360	NM_000138.5(FBN1):c.8310C>T (p.His2770=)	FBN1	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia +8 more	GConflicting classifications of pathogenicity
Select item 979121	NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)	FBN1 (H2770Y)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1332308	NM_000138.5(FBN1):c.8301T>C (p.Asn2767=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 406312	NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)	FBN1 (N2767S)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +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)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 926800	NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 925865	NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)	FBN1 (I2763V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 36128	NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign/Likely benign
Select item 927741	NM_000138.5(FBN1):c.8267G>T (p.Trp2756Leu)	FBN1 (W2756L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1170974	NM_000138.5(FBN1):c.8263A>G (p.Ser2755Gly)	FBN1 (S2755G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920087	NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn)	FBN1 (S2752N)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 2775394	NM_000138.5(FBN1):c.8249A>C (p.Asn2750Thr)	FBN1 (N2750T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 923537	NM_000138.5(FBN1):c.8239A>G (p.Thr2747Ala)	FBN1 (T2747A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 921320	NM_000138.5(FBN1):c.8236G>A (p.Glu2746Lys)	FBN1 (E2746K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 457269	NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)	FBN1 (Q2744H)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 377863	NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +4 more	GBenign/Likely benign
Select item 2775395	NM_000138.5(FBN1):c.8227G>A (p.Asp2743Asn)	FBN1 (D2743N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 316361	NM_000138.5(FBN1):c.8227-3C>T	FBN1	Single nucleotide variant (intron variant)	MASS syndrome +9 more	GConflicting classifications of pathogenicity
Select item 514709	NM_000138.5(FBN1):c.8227-10G>A	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +9 more	GLikely benign
Select item 2775396	NM_000138.5(FBN1):c.8226+6T>A	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 925313	NM_000138.5(FBN1):c.8226+3G>A	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 520239	NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)	FBN1 (E2742K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36126	NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)	FBN1 (N2740S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 927043	NM_000138.5(FBN1):c.8211T>C (p.Asp2737=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 919730	NM_000138.5(FBN1):c.8208T>C (p.Thr2736=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1172025	NM_000138.5(FBN1):c.8207C>G (p.Thr2736Ser)	FBN1 (T2736S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 316362	NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)	FBN1	Single nucleotide variant (synonymous variant)	Ectopia lentis 1, isolated, autosomal dominant +7 more	GConflicting classifications of pathogenicity
Select item 924953	NM_000138.5(FBN1):c.8200A>G (p.Asn2734Asp)	FBN1 (N2734D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 921056	NM_000138.5(FBN1):c.8199A>T (p.Thr2733=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 200202	NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)	FBN1 (T2733R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2775397	NM_000138.5(FBN1):c.8197A>G (p.Thr2733Ala)	FBN1 (T2733A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3893872	NM_000138.5(FBN1):c.8193A>G (p.Arg2731=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 264033	NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)	FBN1 (R2730Q)	Single nucleotide variant (missense variant)	Stiff skin syndrome +9 more	GConflicting classifications of pathogenicity
Select item 199954	NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)	FBN1 (K2729Q)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GConflicting classifications of pathogenicity
Select item 925919	NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp)	FBN1 (G2727D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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 237107	NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)	FBN1 (R2726Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 16445	NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)	FBN1 (R2726W)	Single nucleotide variant (missense variant)	Stiff skin syndrome +12 more	GConflicting classifications of pathogenicity
Select item 921375	NM_000138.5(FBN1):c.8169C>T (p.Tyr2723=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 3894002	NM_000138.5(FBN1):c.8160C>T (p.Ile2720=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1100657	NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 237106	NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)	FBN1 (E2717K)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome +8 more	GConflicting classifications of pathogenicity
Select item 933157	NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)	FBN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 495659	NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)	FBN1 (A2714V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 919280	NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)	FBN1 (A2714T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 264444	NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +1 more	GLikely benign
Select item 921811	NM_000138.5(FBN1):c.8126C>T (p.Ser2709Leu)	FBN1 (S2709L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 919600	NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)	FBN1 (N2708S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 200128	NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)	FBN1 (G2703V)	Single nucleotide variant (missense variant)	Weill-Marchesani syndrome 2, dominant +3 more	GUncertain significance
Select item 527167	NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)	FBN1 (V2701I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 807238	NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GLikely benign
Select item 161240	NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)	FBN1 (R2694Q)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 263562	NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly)	FBN1 (R2694G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 42439	NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)	FBN1 (G2691S)	Single nucleotide variant (missense variant)	Marfan syndrome +7 more	GConflicting classifications of pathogenicity

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