C0024796[trait identifier] AND "Sangiuolo Lab - Medical Genetics Labor - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 684611	NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter)	FBN1 (E2651*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 684610	NM_000138.5(FBN1):c.7559del (p.Thr2520fs)	FBN1 (T2520fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684609	NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter)	FBN1 (G2367*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 684608	NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)	FBN1 (C2295W)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684607	NM_000138.5(FBN1):c.6872-1G>T	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 638555	NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp)	FBN1 (C2276W)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684606	NM_000138.5(FBN1):c.6804del (p.Ile2269fs)	FBN1 (I2269fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684605	NM_000138.5(FBN1):c.6740-1G>T	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GPathogenic
Select item 684604	NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs)	FBN1 (Y2236fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684603	NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter)	FBN1 (Q2212*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 684602	NM_000138.5(FBN1):c.6496+1del	FBN1	Deletion (splice donor variant)	Marfan syndrome	GPathogenic
Select item 625125	NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)	FBN1 (D2129G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684601	NM_000138.5(FBN1):c.6380-1G>T	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome	GPathogenic
Select item 684599	NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg)	FBN1 (C2040R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684598	NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser)	FBN1 (N1893S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 684597	NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr)	FBN1 (C1833Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 684596	NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly)	FBN1 (C1806G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684595	NM_000138.5(FBN1):c.5093del (p.Asn1698fs)	FBN1 (N1698fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684594	NM_000138.5(FBN1):c.5057del (p.Asn1686fs)	FBN1 (N1686fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684593	NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs)	FBN1 (E1133fs)	Microsatellite (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684592	NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs)	FBN1 (C1124fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684591	NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)	FBN1 (C1032*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 684590	NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)	FBN1 (G1022E)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 684589	NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter)	FBN1 (Y962*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic
Select item 684584	NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del	FBN1	Deletion	Marfan syndrome	GLikely pathogenic
Select item 684588	NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)	FBN1 (G880C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684587	NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter)	FBN1 (W854*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 684586	NM_000138.5(FBN1):c.2539+2T>G	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome	GPathogenic
Select item 684585	NM_000138.5(FBN1):c.2419+2T>G	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome	GPathogenic
Select item 568188	NM_000138.5(FBN1):c.2113+1G>C	FBN1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 684582	NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg)	FBN1 (C685R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684581	NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly)	FBN1	Indel (inframe_indel)	Marfan syndrome	GLikely pathogenic
Select item 684580	NM_000138.5(FBN1):c.1888A>C (p.Asn630His)	FBN1 (N630H)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684579	NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)	FBN1 (C628N)	Inversion (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 646896	NM_000138.5(FBN1):c.1782del (p.Phe594fs)	FBN1 (F594fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 684578	NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs)	FBN1 (T549fs)	Indel (frameshift variant)	Marfan syndrome	GPathogenic
Select item 684577	NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro)	FBN1 (R545P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684576	NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser)	FBN1 (C460S)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684575	NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)	FBN1 (R327G)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GUncertain significance
Select item 684574	NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)	FBN1 (T212P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684573	NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer)	FBN1	Deletion (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 449282	NM_000138.5(FBN1):c.503G>T (p.Cys168Phe)	FBN1 (C168F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 684572	NM_000138.5(FBN1):c.376G>T (p.Gly126Ter)	FBN1 (G126*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 684571	NM_000138.5(FBN1):c.298T>C (p.Cys100Arg)	FBN1 (C100R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 684570	NM_000138.5(FBN1):c.202T>C (p.Cys68Arg)	FBN1 (C68R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 684569	NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)	FBN1 (Y63*)	Single nucleotide variant (nonsense)	Marfan syndrome	GPathogenic
Select item 684568	NM_000138.5(FBN1):c.176del (p.Cys59fs)	FBN1 (C59fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic

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Items: 47