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Gene: FA2H & Disease: FAHN, 111 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30873	FA2H	c.510_511del	p.Tyr170_Ser171delinsTer	NM_024306.5 M	Del	P	2 +	6
948467	FA2H	c.806G>A	p.Arg269His (p.R269H)	NM_024306.5 M	SNV	P	3 +	6
930104	FA2H	c.620C>T	p.Thr207Met (p.T207M)	NM_024306.5 M	SNV	P	3 +	6
1685805	FA2H	c.506+1G>C	--	NM_024306.5 M	SNV	P	2 +	5
803271	FA2H	c.340_363+8del	--	NM_024306.5 M	Del	P	2 +	5
30872	FA2H	c.460C>T	p.Arg154Cys (p.R154C)	NM_024306.5 M	SNV	P	3 +	4
807416	FA2H	c.968C>T	p.Pro323Leu (p.P323L)	NM_024306.5 M	SNV	P	2 +	4
936701	FA2H	c.589C>T	p.Arg197Ter (p.R197X)	NM_024306.5 M	SNV	P	2 +	4
129027	FA2H	c.1039+8T>C	--	NM_024306.5 M	SNV	B	3 +	3
129028	FA2H	c.229C>T	p.Leu77= (p.L77=)	NM_024306.5 M	SNV	B	3 +	3
129029	FA2H	c.289C>G	p.Pro97Ala (p.P97A)	NM_024306.5 M	SNV	LB	3 +	3
129032	FA2H	c.888A>G	p.Val296= (p.V296=)	NM_024306.5 M	SNV	B	3 +	3
129031	FA2H	c.879C>T	p.Pro293= (p.P293=)	NM_024306.5 M	SNV	B	3 +	3
129033	FA2H	c.933T>C	p.Tyr311= (p.Y311=)	NM_024306.5 M	SNV	B	3 +	3
30871	FA2H	c.159_176del	p.Arg53_Ile58del	NM_024306.5 M	Del	P	2 +	3
320495	FA2H	c.844G>A	p.Gly282Ser (p.G282S)	NM_024306.5 M	SNV	LB	3 +	3
320498	FA2H	c.537G>A	p.Leu179= (p.L179=)	NM_024306.5 M	SNV	LB	3 +	3
320501	FA2H	c.232G>A	p.Glu78Lys (p.E78K)	NM_024306.5 M	SNV	P	3 +	3
241461	FA2H	c.338G>A	p.Arg113Gln (p.R113Q)	NM_024306.5 M	SNV	LB	3 +	3
444377	FA2H	c.1112C>T	p.Thr371Met (p.T371M)	NM_024306.5 M	SNV	LB	3 +	3

111 Results, 20 per Page

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