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Gene: A2ML1 & Disease: OMS, 72 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
217310	A2ML1	c.2677C>T	p.Arg893Ter (p.R893X)	NM_144670.6 M	SNV	LB	1 +	4
217310	A2ML1	c.1204C>T	p.Arg402Ter (p.R402X)	NM_001282424.3	SNV	LB	1 +	4
617554	A2ML1	c.4061+1G>C	--	NM_144670.6 M	SNV	P	1 +	3
617554	A2ML1	c.2588+1G>C	--	NM_001282424.3	SNV	P	1 +	3
697171	A2ML1	c.3395C>T	p.Thr1132Ile (p.T1132I)	NM_144670.6 M	SNV	LB	1 +	2
697219	A2ML1	c.1937T>C	p.Ile646Thr (p.I646T)	NM_144670.6 M	SNV	LB	1 +	2
1491947	A2ML1	c.2014T>C	p.Phe672Leu (p.F672L)	NM_144670.6 M	SNV	VUS	1 +	2
853059	A2ML1	c.89G>A	p.Arg30Gln (p.R30Q)	NM_144670.6 M	SNV	LB	1 +	2
664742	A2ML1	c.3824C>T	p.Thr1275Ile (p.T1275I)	NM_144670.6 M	SNV	VUS	1 +	2
1050895	A2ML1	c.289C>T	p.Arg97Trp (p.R97W)	NM_144670.6 M	SNV	VUS	1 +	2
928816	A2ML1	c.2463+13G>C	--	NM_144670.6 M	SNV	B	1 +	2
224929	A2ML1	c.196C>T	p.Leu66= (p.L66=)	NM_144670.6 M	SNV	LB	1 +	2
217306	A2ML1	c.2478_2485dup	p.Ser829fs (p.S829fs)	NM_144670.6 M	Dup	P	1 +	2
241912	A2ML1	c.9T>A	p.Ala3= (p.A3=)	NM_144670.6 M	SNV	LB	1 +	2
241885	A2ML1	c.1476+8C>T	--	NM_144670.6 M	SNV	LB	1 +	2
1364588	A2ML1	c.1945A>G	p.Met649Val (p.M649V)	NM_144670.6 M	SNV	LB	1 +	2
406200	A2ML1	c.2834A>T	p.Tyr945Phe (p.Y945F)	NM_144670.6 M	SNV	VUS	1 +	2
644546	A2ML1	c.375G>T	p.Gln125His (p.Q125H)	NM_144670.6 M	SNV	VUS	1 +	2
1464079	A2ML1	c.2188C>T	p.Arg730Cys (p.R730C)	NM_144670.6 M	SNV	VUS	1 +	2
964882	A2ML1	c.4334C>A	p.Ala1445Glu (p.A1445E)	NM_144670.6 M	SNV	VUS	1 +	2

72 Results, 20 per Page

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