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Gene: FBN1 & Disease: WMS1, 232 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16445	FBN1	c.8176C>T	p.Arg2726Trp (p.R2726W)	NM_000138.5 M	SNV	LB	10 +	25
16451	FBN1	c.3509G>A	p.Arg1170His (p.R1170H)	NM_000138.5 M	SNV	P	17 +	20
42355	FBN1	c.4270C>G	p.Pro1424Ala (p.P1424A)	NM_000138.5 M	SNV	LB	16 +	19
161244	FBN1	c.1027G>A	p.Gly343Arg (p.G343R)	NM_000138.5 M	SNV	LB	11 +	12
36065	FBN1	c.3442C>G	p.Pro1148Ala (p.P1148A)	NM_000138.5 M	SNV	B	11 +	8
36060	FBN1	c.2956G>A	p.Ala986Thr (p.A986T)	NM_000138.5 M	SNV	LB	15 +	6
161237	FBN1	c.7846A>G	p.Ile2616Val (p.I2616V)	NM_000138.5 M	SNV	LB	10 +	6
200041	FBN1	c.4214T>G	p.Leu1405Arg (p.L1405R)	NM_000138.5 M	SNV	LB	10 +	5
237106	FBN1	c.8149G>A	p.Glu2717Lys (p.E2717K)	NM_000138.5 M	SNV	LB	10 +	5
199960	FBN1	c.902G>T	p.Gly301Val (p.G301V)	NM_000138.5 M	SNV	LB	14 +	4
457184	FBN1	c.2950G>A	p.Val984Ile (p.V984I)	NM_000138.5 M	SNV	LB	10 +	4
161234	FBN1	c.7241G>A	p.Arg2414Gln (p.R2414Q)	NM_000138.5 M	SNV	LB	13 +	4
316364	FBN1	c.7661G>A	p.Arg2554Gln (p.R2554Q)	NM_000138.5 M	SNV	LB	10 +	4
163486	FBN1	c.79G>A	p.Ala27Thr (p.A27T)	NM_000138.5 M	SNV	LB	10 +	3
137314	FBN1	c.306C>T	p.Cys102= (p.C102=)	NM_000138.5 M	SNV	LB	11 +	3
36086	FBN1	c.510C>T	p.Tyr170= (p.Y170=)	NM_000138.5 M	SNV	LB	10 +	3
137299	FBN1	c.1029G>A	p.Gly343= (p.G343=)	NM_000138.5 M	SNV	LB	10 +	3
36041	FBN1	c.1746C>T	p.Cys582= (p.C582=)	NM_000138.5 M	SNV	LB	11 +	3
42297	FBN1	c.1875T>C	p.Asn625= (p.N625=)	NM_000138.5 M	SNV	B	11 +	3
42298	FBN1	c.2175T>C	p.Asn725= (p.N725=)	NM_000138.5 M	SNV	LB	11 +	3

232 Results, 20 per Page

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