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Gene: ATRX & Disease: Alpha Thalassemia-X-Linked Intellectual Disability Syndrome, 2892 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
11742	ATRX	c.109C>T	p.Arg37Ter (p.R37X)	NM_000489.6 M	SNV	P	3 +	11
11742	ATRX	c.109C>T	p.Arg37Ter (p.R37X)	NM_138270.5	SNV	P	3 +	11
11724	ATRX	c.5579A>G	p.Asn1860Ser (p.N1860S)	NM_000489.6 M	SNV	P	6 +	10
652477	ATRX	c.737G>T	p.Arg246Leu (p.R246L)	NM_000489.6 M	SNV	LP	2 +	10
11724	ATRX	c.5465A>G	p.Asn1822Ser (p.N1822S)	NM_138270.5	SNV	P	6 +	10
652477	ATRX	c.623G>T	p.Arg208Leu (p.R208L)	NM_138270.5	SNV	LP	2 +	10
11735	ATRX	c.736C>T	p.Arg246Cys (p.R246C)	NM_000489.6 M	SNV	P	5 +	9
11735	ATRX	c.622C>T	p.Arg208Cys (p.R208C)	NM_138270.5	SNV	P	5 +	9
372728	ATRX	c.6254G>A	p.Arg2085His (p.R2085H)	NM_000489.6 M	SNV	P	3 +	8
372728	ATRX	c.6140G>A	p.Arg2047His (p.R2047H)	NM_138270.5	SNV	P	3 +	8
838105	ATRX	c.1727C>A	p.Ser576Ter (p.S576X)	NM_000489.6 M	SNV	P	2 +	6
838105	ATRX	c.1613C>A	p.Ser538Ter (p.S538X)	NM_138270.5	SNV	P	2 +	6
93141	ATRX	c.536A>G	p.Asn179Ser (p.N179S)	NM_000489.6 M	SNV	P	3 +	5
93141	ATRX	c.422A>G	p.Asn141Ser (p.N141S)	NM_138270.5	SNV	P	3 +	5
1067789	ATRX	c.485-1G>A	--	NM_000489.6 M	SNV	LP	2 +	4
1067789	ATRX	c.371-1G>A	--	NM_138270.5	SNV	LP	2 +	4
1072204	ATRX	c.158del	p.Asn53fs (p.N53fs)	NM_000489.6 M	Del	P	2 +	3
1441584	ATRX	c.2678dup	p.Thr894fs (p.T894fs)	NM_000489.6 M	Dup	P	2 +	3
2138614	ATRX	c.658T>C	p.Cys220Arg (p.C220R)	NM_000489.6 M	SNV	VUS	2 +	3
2024014	ATRX	c.161_162del	p.Asn53_Ser54insTer	NM_000489.6 M	MS	P	2 +	3

2892 Results, 20 per Page

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