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Gene: BSND & Disease: Bartter Syndrome Type 4, 80 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4381	BSND	c.22C>T	p.Arg8Trp (p.R8W)	NM_057176.3 M	SNV	P	3 +	9
4387	BSND	c.139G>A	p.Gly47Arg (p.G47R)	NM_057176.3 M	SNV	P	3 +	9
4385	BSND	c.28G>A	p.Gly10Ser (p.G10S)	NM_057176.3 M	SNV	P	3 +	6
4384	BSND	c.3G>A	p.Met1Ile (p.M1I)	NM_057176.3 M	SNV	P	3 +	5
4380	BSND	c.1A>T	p.Met1Leu (p.M1L)	NM_057176.3 M	SNV	P	2 +	4
837720	BSND	c.272+1G>T	--	NM_057176.3 M	SNV	LP	3 +	3
4388	BSND	c.35T>C	p.Ile12Thr (p.I12T)	NM_057176.3 M	SNV	P	5 +	3
46545	BSND	c.127G>A	p.Val43Ile (p.V43I)	NM_057176.3 M	SNV	LB	3 +	3
620144	BSND	c.262G>T	p.Glu88Ter (p.E88X)	NM_057176.3 M	SNV	P	2 +	2
4382	BSND	c.157_177+20del	--	NM_057176.3 M	Del	P	2 +	2
4389	BSND	c.10G>T	p.Glu4Ter (p.E4X)	NM_057176.3 M	SNV	P	2 +	2
1323985	BSND	c.97G>C	p.Val33Leu (p.V33L)	NM_057176.3 M	SNV	P	3 +	2
590851	BSND	c.452del	p.Pro151fs (p.P151fs)	NM_057176.3 M	Del	P	2 +	1
590851	BSND	c.452delC	--	NM_057176.3 M	Del	P	2 +	1
225307	BSND	c.893G>A	p.Gly298Glu (p.G298E)	NM_057176.3 M	SNV	LB	3 +	1
667197	BSND	c.10G>A	p.Glu4Lys (p.E4K)	NM_057176.3 M	SNV	VUS	3 +	1
4383	BSND	c.273-887_*576del	--	NM_057176.3 M	Del	P	2 +	1
4386	BSND	c.23G>T	p.Arg8Leu (p.R8L)	NM_057176.3 M	SNV	P	2 +	1
1256327	BSND	c.763G>C	p.Glu255Gln (p.E255Q)	NM_057176.3 M	SNV	VUS	3 +	1
1329051	BSND	c.673C>T	p.Gln225Ter (p.Q225X)	NM_057176.3 M	SNV	VUS	2 +	1

80 Results, 20 per Page

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