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Gene: HELLS & Disease: ICF4, 170 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1166855	HELLS	c.31+20T>C	--	NM_018063.5 M	SNV	B	1 +	2
1168418	HELLS	c.231A>C	p.Ile77= (p.I77=)	NM_018063.5 M	SNV	B	1 +	2
1032786	HELLS	c.360A>G	p.Glu120= (p.E120=)	NM_018063.5 M	SNV	LB	1 +	2
716400	HELLS	c.2T>C	p.Met1Thr (p.M1T)	NM_018063.5 M	SNV	LB	1 +	2
710853	HELLS	c.993G>A	p.Thr331= (p.T331=)	NM_018063.5 M	SNV	LB	1 +	2
225523	HELLS	c.2096A>G	p.Gln699Arg (p.Q699R)	NM_018063.5 M	SNV	P	1 +	2
225528	HELLS	c.2394GTT[2]	p.Leu801Del (p.L801del)	NM_018063.5 M	MS	P	1 +	2
768380	HELLS	c.2182A>G	p.Ile728Val (p.I728V)	NM_018063.5 M	SNV	LB	1 +	2
1028083	HELLS	c.1537A>G	p.Arg513Gly (p.R513G)	NM_018063.5 M	SNV	VUS	1 +	2
1166855	HELLS	c.-386+20T>C	--	NM_001289071.2	SNV	B	1 +	2
	HELLS	c.31+20T>C	--	NM_001289067.2	SNV	B	1 +	2
	HELLS	c.-991+20T>C	--	NM_001289075.2	SNV	B	1 +	2
	HELLS	c.31+20T>C	--	NM_001289070.2	SNV	B	1 +	2
	HELLS	c.-972+20T>C	--	NM_001289074.2	SNV	B	1 +	2
	HELLS	c.31+20T>C	--	NM_001289069.2	SNV	B	1 +	2
	HELLS	c.31+20T>C	--	NM_001289072.2	SNV	B	1 +	2
	HELLS	c.-319+20T>C	--	NM_001289073.2	SNV	B	1 +	2
	HELLS	c.-18+65T>C	--	NM_001289068.2	SNV	B	1 +	2
1168418	HELLS	c.231A>C	p.Ile77= (p.I77=)	NM_001289067.2	SNV	B	1 +	2
1168418	HELLS	c.183A>C	p.Ile61= (p.I61=)	NM_001289068.2	SNV	B	1 +	2

170 Results, 20 per Page

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