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Gene: GJA5 & Disease: ATRST1, 332 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16998	GJA5	c.286G>T	p.Ala96Ser (p.A96S)	NM_181703.4 M	SNV	P	2 +	8
16998	GJA5	c.286G>T	p.Ala96Ser (p.A96S)	NM_005266.7	SNV	P	2 +	8
567837	GJA5	c.433del	p.Leu145fs (p.L145fs)	NM_181703.4 M	Del	VUS	2 +	1
1930928	GJA5	c.287C>T	p.Ala96Val (p.A96V)	NM_181703.4 M	SNV	VUS	2 +	1
2059443	GJA5	c.30C>T	p.Phe10= (p.F10=)	NM_181703.4 M	SNV	LB	2 +	1
648482	GJA5	c.793C>T	p.Pro265Ser (p.P265S)	NM_181703.4 M	SNV	VUS	2 +	1
1544011	GJA5	c.138G>A	p.Gly46= (p.G46=)	NM_181703.4 M	SNV	LB	2 +	1
1145680	GJA5	c.147G>A	p.Gln49= (p.Q49=)	NM_181703.4 M	SNV	LB	2 +	1
2145134	GJA5	c.598C>T	p.Arg200Trp (p.R200W)	NM_181703.4 M	SNV	VUS	2 +	1
2011516	GJA5	c.834del	p.Lys278fs (p.K278fs)	NM_181703.4 M	Del	VUS	2 +	1
126903	GJA5	c.223A>T	p.Ile75Phe (p.I75F)	NM_181703.4 M	SNV	P	2 +	1
2165178	GJA5	c.269T>C	p.Leu90Pro (p.L90P)	NM_181703.4 M	SNV	VUS	2 +	1
876989	GJA5	c.377C>T	p.Pro126Leu (p.P126L)	NM_181703.4 M	SNV	VUS	2 +	1
567837	GJA5	c.433del	p.Leu145fs (p.L145fs)	NM_005266.7	Del	VUS	2 +	1
1930928	GJA5	c.287C>T	p.Ala96Val (p.A96V)	NM_005266.7	SNV	VUS	2 +	1
2059443	GJA5	c.30C>T	p.Phe10= (p.F10=)	NM_005266.7	SNV	LB	2 +	1
648482	GJA5	c.793C>T	p.Pro265Ser (p.P265S)	NM_005266.7	SNV	VUS	2 +	1
1544011	GJA5	c.138G>A	p.Gly46= (p.G46=)	NM_005266.7	SNV	LB	2 +	1
1145680	GJA5	c.147G>A	p.Gln49= (p.Q49=)	NM_005266.7	SNV	LB	2 +	1
2145134	GJA5	c.598C>T	p.Arg200Trp (p.R200W)	NM_005266.7	SNV	VUS	2 +	1

332 Results, 20 per Page

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