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Gene: BRAT1 & Disease: Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome, 2895 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
31199	BRAT1	c.638dup	p.Val214fs (p.V214fs)	NM_152743.4 M	Dup	P	3 +	8
	BRAT1	c.638dup	p.Val214fs (p.V214fs)	NM_001350626.2	Dup	P	3 +	8
	BRAT1	c.113dup	p.Val39fs (p.V39fs)	NM_001350627.2	Dup	P	3 +	8
	BRAT1	c.638dupA	--	NM_001350626.2	Dup	P	3 +	8
279703	BRAT1	c.294dup	p.Leu99fs (p.L99fs)	NM_152743.4 M	Dup	P	3 +	7
	BRAT1	c.294dup	p.Leu99fs (p.L99fs)	NM_001350626.2	Dup	P	3 +	7
	BRAT1	c.-95-1083dup	--	NM_001350627.2	Dup	P	3 +	7
372962	BRAT1	c.2125_2128del	p.Phe709fs (p.F709fs)	NM_152743.4 M	Del	P	2 +	5
372962	BRAT1	c.2125_2128delTTTG	--	NM_152743.4 M	Del	P	2 +	5
969810	BRAT1	c.1395G>A	p.Thr465= (p.T465=)	NM_152743.4 M	SNV	P	2 +	5
372962	BRAT1	c.2305_2308del	p.Phe769fs (p.F769fs)	NM_001350626.2	Del	P	2 +	5
372962	BRAT1	c.1600_1603del	p.Phe534fs (p.F534fs)	NM_001350627.2	Del	P	2 +	5
969810	BRAT1	c.1395G>A	p.Thr465= (p.T465=)	NM_001350626.2	SNV	P	2 +	5
969810	BRAT1	c.870G>A	p.Thr290= (p.T290=)	NM_001350627.2	SNV	P	2 +	5
872930	BRAT1	c.1499-1G>T	--	NM_152743.4 M	SNV	P	2 +	4
650471	BRAT1	c.283-2A>T	--	NM_152743.4 M	SNV	LP	2 +	4
872930	BRAT1	c.1499-1G>T	--	NM_001350626.2	SNV	P	2 +	4
872930	BRAT1	c.974-1G>T	--	NM_001350627.2	SNV	P	2 +	4
650471	BRAT1	c.-95-1096A>T	--	NM_001350627.2	SNV	LP	2 +	4
650471	BRAT1	c.283-2A>T	--	NM_001350626.2	SNV	LP	2 +	4

2895 Results, 20 per Page

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