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Gene: SPTAN1 & Disease: Developmental and Epileptic Encephalopathy, 15469 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
160024	SPTAN1	c.6619_6621del	--	NM_001130438.3 M	MS	P	3 +	7
	SPTAN1	c.6616GAG[1]	p.Glu2207Del (p.E2207del)	NM_001130438.3 M	MS	P	3 +	7
	SPTAN1	c.6541GAG[1]	p.Glu2182Del (p.E2182del)	NM_001195532.2	MS	P	3 +	7
	SPTAN1	c.6616GAG[1]	p.Glu2207Del (p.E2207del)	NM_001363759.2	MS	P	3 +	7
	SPTAN1	c.6556GAG[1]	p.Glu2187Del (p.E2187del)	NM_001363765.2	MS	P	3 +	7
	SPTAN1	c.6703GAG[1]	p.Glu2236Del (p.E2236del)	NM_001375310.1	MS	P	3 +	7
	SPTAN1	c.6616GAG[1]	p.Glu2207Del (p.E2207del)	NM_001375311.2	MS	P	3 +	7
	SPTAN1	c.6652GAG[1]	p.Glu2219Del (p.E2219del)	NM_001375312.2	MS	P	3 +	7
	SPTAN1	c.6616GAG[1]	p.Glu2207Del (p.E2207del)	NM_001375313.1	MS	P	3 +	7
	SPTAN1	c.6556GAG[1]	p.Glu2187Del (p.E2187del)	NM_001375314.2	MS	P	3 +	7
	SPTAN1	c.6652GAG[1]	p.Glu2219Del (p.E2219del)	NM_001375318.1	MS	P	3 +	7
	SPTAN1	c.6601GAG[1]	p.Glu2202Del (p.E2202del)	NM_003127.4	MS	P	3 +	7
139297	SPTAN1	c.5406C>T	p.Thr1802= (p.T1802=)	NM_001130438.3 M	SNV	B	3 +	4
139311	SPTAN1	c.6660C>T	p.Asn2220= (p.N2220=)	NM_001130438.3 M	SNV	LB	3 +	4
160009	SPTAN1	c.3486C>T	p.Leu1162= (p.L1162=)	NM_001130438.3 M	SNV	B	3 +	4
160012	SPTAN1	c.4199A>T	p.Gln1400Leu (p.Q1400L)	NM_001130438.3 M	SNV	LB	3 +	4
160022	SPTAN1	c.6498C>A	p.Arg2166= (p.R2166=)	NM_001130438.3 M	SNV	LB	3 +	4
160028	SPTAN1	c.6899ACCAGCTGG[3]	p.2300DQL[3]	NM_001130438.3 M	MS	P	4 +	4
160028	SPTAN1	c.6908_6916dup	--	NM_001130438.3 M	MS	P	4 +	4
139272	SPTAN1	c.1737C>T	p.Phe579= (p.F579=)	NM_001130438.3 M	SNV	LB	3 +	4

15469 Results, 20 per Page

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