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Gene: HNRNPH2 & Disease: Bain Type of X-Linked Syndromic Intellectual Disability, 24 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
225760	HNRNPH2	c.616C>T	p.Arg206Trp (p.R206W)	NM_019597.5 M	SNV	P	3 +	11
225760	HNRNPH2	c.616C>T	p.Arg206Trp (p.R206W)	NM_001032393.3	SNV	P	3 +	11
225761	HNRNPH2	c.617G>A	p.Arg206Gln (p.R206Q)	NM_019597.5 M	SNV	P	2 +	5
225761	HNRNPH2	c.617G>A	p.Arg206Gln (p.R206Q)	NM_001032393.3	SNV	P	2 +	5
1009590	HNRNPH2	c.1019A>T	p.Asp340Val (p.D340V)	NM_019597.5 M	SNV	VUS	2 +	2
1009590	HNRNPH2	c.1019A>T	p.Asp340Val (p.D340V)	NM_001032393.3	SNV	VUS	2 +	2
2432515	HNRNPH2	c.737A>G	p.Tyr246Cys (p.Y246C)	NM_019597.5 M	SNV	VUS	2 +	1
1708044	HNRNPH2	c.613C>T	p.Gln205Ter (p.Q205X)	NM_019597.5 M	SNV	LP	2 +	1
521005	HNRNPH2	c.629A>G	p.Tyr210Cys (p.Y210C)	NM_019597.5 M	SNV	LP	2 +	1
1098285	HNRNPH2	c.340C>T	p.Arg114Trp (p.R114W)	NM_019597.5 M	SNV	P	2 +	1
225759	HNRNPH2	c.626C>T	p.Pro209Leu (p.P209L)	NM_019597.5 M	SNV	P	2 +	1
1285350	HNRNPH2	c.1320C>T	p.Asn440= (p.N440=)	NM_019597.5 M	SNV	B	2 +	1
2432515	HNRNPH2	c.737A>G	p.Tyr246Cys (p.Y246C)	NM_001032393.3	SNV	VUS	2 +	1
1708044	HNRNPH2	c.613C>T	p.Gln205Ter (p.Q205X)	NM_001032393.3	SNV	LP	2 +	1
521005	HNRNPH2	c.629A>G	p.Tyr210Cys (p.Y210C)	NM_001032393.3	SNV	LP	2 +	1
1098285	HNRNPH2	c.340C>T	p.Arg114Trp (p.R114W)	NM_001032393.3	SNV	P	2 +	1
225759	HNRNPH2	c.626C>T	p.Pro209Leu (p.P209L)	NM_001032393.3	SNV	P	2 +	1
1285350	HNRNPH2	c.1320C>T	p.Asn440= (p.N440=)	NM_001032393.3	SNV	B	2 +	1
807430	HNRNPH2	c.85C>T	p.Arg29Cys (p.R29C)	NM_019597.5 M	SNV	LP	2 +	0
1708226	HNRNPH2	c.460del	p.Glu154fs (p.E154fs)	NM_019597.5 M	Del	LP	2 +	0

24 Results, 20 per Page

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