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Mutation Direct

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Gene: MTOR & Disease: FCORD2, 44 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
217823	MTOR	c.5395G>A	p.Glu1799Lys (p.E1799K)	NM_004958.4 M	SNV	P	5 +	12
376129	MTOR	c.6644C>A	p.Ser2215Tyr (p.S2215Y)	NM_004958.4 M	SNV	P	10 +	6
376130	MTOR	c.4379T>C	p.Leu1460Pro (p.L1460P)	NM_004958.4 M	SNV	P	3 +	6
156703	MTOR	c.6644C>T	p.Ser2215Phe (p.S2215F)	NM_004958.4 M	SNV	P	9 +	3
584432	MTOR	c.5930C>T	p.Thr1977Ile (p.T1977I)	NM_004958.4 M	SNV	P	3 +	3
417723	MTOR	c.7280T>C	p.Leu2427Pro (p.L2427P)	NM_004958.4 M	SNV	P	3 +	1
417724	MTOR	c.7280T>A	p.Leu2427Gln (p.L2427Q)	NM_004958.4 M	SNV	P	2 +	1
417727	MTOR	c.4366T>G	p.Trp1456Gly (p.W1456G)	NM_004958.4 M	SNV	P	2 +	1
918028	MTOR	c.6674dup	p.Tyr2225Ter (p.Y2225X)	NM_004958.4 M	Dup	VUS	3 +	0
1484219	MTOR	c.4570+5A>G	--	NM_004958.4 M	SNV	B	3 +	0
1599387	MTOR	c.6810+12G>A	--	NM_004958.4 M	SNV	LB	3 +	0
699072	MTOR	c.348C>T	p.Pro116= (p.P116=)	NM_004958.4 M	SNV	LB	3 +	0
1028831	MTOR	c.2579A>T	p.Lys860Met (p.K860M)	NM_004958.4 M	SNV	VUS	3 +	0
1168153	MTOR	c.5506G>A	p.Ala1836Thr (p.A1836T)	NM_004958.4 M	SNV	LB	2 +	0
930828	MTOR	c.3109C>G	p.Leu1037Val (p.L1037V)	NM_004958.4 M	SNV	VUS	2 +	0
414894	MTOR	c.2649+9C>T	--	NM_004958.4 M	SNV	LB	3 +	0
931361	MTOR	c.7336_7341del	p.Thr2446_Asp2447del	NM_004958.4 M	Del	LB	3 +	0
1685378	MTOR	c.4298T>C	p.Leu1433Ser (p.L1433S)	NM_004958.4 M	SNV	LP	2 +	0
932101	MTOR	c.5171T>G	p.Met1724Arg (p.M1724R)	NM_004958.4 M	SNV	VUS	2 +	0
833826	MTOR	c.3452A>G	p.Tyr1151Cys (p.Y1151C)	NM_004958.4 M	SNV	B	2 +	0

44 Results, 20 per Page

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