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Gene: GH1 & Disease: IGHD1B, 27 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
15970	GH1	c.291+1G>A	--	NM_000515.5 M	SNV	P	4 +	5
289503	GH1	c.7A>G	p.Thr3Ala (p.T3A)	NM_000515.5 M	SNV	LB	5 +	5
15970	GH1	c.172-92G>A	--	NM_022560.4	SNV	P	4 +	5
15970	GH1	c.246+1G>A	--	NM_022559.4	SNV	P	4 +	5
289503	GH1	c.7A>G	p.Thr3Ala (p.T3A)	NM_022559.4	SNV	LB	5 +	5
289503	GH1	c.7A>G	p.Thr3Ala (p.T3A)	NM_022560.4	SNV	LB	5 +	5
284727	GH1	c.116C>T	p.Ala39Val (p.A39V)	NM_000515.5 M	SNV	LB	5 +	2
1635025	GH1	c.456+19G>T	--	NM_000515.5 M	SNV	LB	4 +	2
15976	GH1	c.456+5G>C	--	NM_000515.5 M	SNV	P	1 +	2
284727	GH1	c.116C>T	p.Ala39Val (p.A39V)	NM_022559.4	SNV	LB	5 +	2
284727	GH1	c.116C>T	p.Ala39Val (p.A39V)	NM_022560.4	SNV	LB	5 +	2
1635025	GH1	c.336+19G>T	--	NM_022560.4	SNV	LB	4 +	2
1635025	GH1	c.411+19G>T	--	NM_022559.4	SNV	LB	4 +	2
15976	GH1	c.336+5G>C	--	NM_022560.4	SNV	P	1 +	2
15976	GH1	c.411+5G>C	--	NM_022559.4	SNV	P	1 +	2
15966	GH1	c.456+1G>C	--	NM_000515.5 M	SNV	P	1 +	1
889155	GH1	c.246G>C	p.Glu82Asp (p.E82D)	NM_000515.5 M	SNV	VUS	2 +	1
324460	GH1	c.-4T>G	--	NM_000515.5 M	SNV	LB	5 +	1
15966	GH1	c.336+1G>C	--	NM_022560.4	SNV	P	1 +	1
15966	GH1	c.411+1G>C	--	NM_022559.4	SNV	P	1 +	1

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