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Gene: AFG3L2 & Disease: Spastic Ataxia 5, 26 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
30423	AFG3L2	c.1996A>G	p.Met666Val (p.M666V)	NM_006796.3 M	SNV	P	4 +	6
446813	AFG3L2	c.838C>T	p.Arg280Trp (p.R280W)	NM_006796.3 M	SNV	VUS	2 +	3
214062	AFG3L2	c.2167G>A	p.Val723Met (p.V723M)	NM_006796.3 M	SNV	P	4 +	3
136312	AFG3L2	c.752+6C>T	--	NM_006796.3 M	SNV	B	4 +	3
1032494	AFG3L2	c.7C>T	p.His3Tyr (p.H3Y)	NM_006796.3 M	SNV	VUS	2 +	2
162524	AFG3L2	c.1875G>A	p.Met625Ile (p.M625I)	NM_006796.3 M	SNV	P	3 +	2
1256165	AFG3L2	c.2314C>A	p.Leu772Ile (p.L772I)	NM_006796.3 M	SNV	VUS	4 +	2
128286	AFG3L2	c.1389G>A	p.Leu463= (p.L463=)	NM_006796.3 M	SNV	LB	4 +	2
128287	AFG3L2	c.1650A>G	p.Glu550= (p.E550=)	NM_006796.3 M	SNV	LB	4 +	2
1030157	AFG3L2	c.1501G>A	p.Glu501Lys (p.E501K)	NM_006796.3 M	SNV	VUS	2 +	1
973201	AFG3L2	c.1901_1902delCT	--	NM_006796.3 M	MS	P	2 +	1
973201	AFG3L2	c.1901_1902del	p.Val633_Ser634insTer	NM_006796.3 M	MS	P	2 +	1
973202	AFG3L2	c.1858C>A	p.Gln620Lys (p.Q620K)	NM_006796.3 M	SNV	P	2 +	1
973204	AFG3L2	c.916A>G	p.Lys306Glu (p.K306E)	NM_006796.3 M	SNV	P	2 +	1
326101	AFG3L2	c.*28G>C	--	NM_006796.3 M	SNV	B	4 +	1
214053	AFG3L2	c.1397C>T	p.Pro466Leu (p.P466L)	NM_006796.3 M	SNV	VUS	3 +	1
214057	AFG3L2	c.2314C>T	p.Leu772Phe (p.L772F)	NM_006796.3 M	SNV	LB	3 +	1
1188960	AFG3L2	c.753-55T>C	--	NM_006796.3 M	SNV	B	4 +	1
1027438	AFG3L2	c.634dupG	--	NM_006796.3 M	Dup	P	2 +	1
1027438	AFG3L2	c.634dup	p.Val212fs (p.V212fs)	NM_006796.3 M	Dup	P	2 +	1

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