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Gene: GRIN2B & Disease: Non-Specific Syndromic Intellectual Disability, 32 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
208643	GRIN2B	c.2459G>C	p.Gly820Ala (p.G820A)	NM_000834.5 M	SNV	P	3 +	7
224818	GRIN2B	c.2065G>A	p.Gly689Ser (p.G689S)	NM_000834.5 M	SNV	P	3 +	5
580700	GRIN2B	c.2459G>A	p.Gly820Glu (p.G820E)	NM_000834.5 M	SNV	P	3 +	5
205730	GRIN2B	c.1832G>T	p.Gly611Val (p.G611V)	NM_000834.5 M	SNV	P	3 +	2
595099	GRIN2B	c.2845T>C	p.Tyr949His (p.Y949H)	NM_000834.5 M	SNV	VUS	3 +	2
374243	GRIN2B	c.1672G>A	p.Val558Ile (p.V558I)	NM_000834.5 M	SNV	P	2 +	2
489393	GRIN2B	c.2087G>A	p.Arg696His (p.R696H)	NM_000834.5 M	SNV	P	3 +	2
245756	GRIN2B	c.2539C>T	p.Arg847Ter (p.R847X)	NM_000834.5 M	SNV	P	3 +	2
426296	GRIN2B	c.2515G>A	p.Glu839Lys (p.E839K)	NM_000834.5 M	SNV	P	3 +	1
205710	GRIN2B	c.1858G>A	p.Val620Met (p.V620M)	NM_000834.5 M	SNV	LP	3 +	1
205711	GRIN2B	c.2060C>T	p.Pro687Leu (p.P687L)	NM_000834.5 M	SNV	LP	2 +	1
279975	GRIN2B	c.1547A>G	p.Asn516Ser (p.N516S)	NM_000834.5 M	SNV	P	3 +	1
984851	GRIN2B	c.1177C>T	p.Arg393Ter (p.R393X)	NM_000834.5 M	SNV	P	2 +	1
421209	GRIN2B	c.2477G>A	p.Gly826Glu (p.G826E)	NM_000834.5 M	SNV	P	2 +	1
561025	GRIN2B	c.1937A>G	p.Tyr646Cys (p.Y646C)	NM_000834.5 M	SNV	P	2 +	1
234500	GRIN2B	c.2252T>C	p.Ile751Thr (p.I751T)	NM_000834.5 M	SNV	P	3 +	1
521816	GRIN2B	c.2776C>T	p.Arg926Ter (p.R926X)	NM_000834.5 M	SNV	LP	1 +	1
391757	GRIN2B	c.1555C>T	p.Arg519Ter (p.R519X)	NM_000834.5 M	SNV	P	3 +	1
916602	GRIN2B	c.1664G>T	p.Ser555Ile (p.S555I)	NM_000834.5 M	SNV	LP	2 +	1
802823	GRIN2B	c.2081A>G	p.Asn694Ser (p.N694S)	NM_000834.5 M	SNV	LP	2 +	0

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