Mutation Direct

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Gene: GNA11 & Disease: HYPOC2, 30 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1104401	GNA11	c.322-5C>T	--	NM_002067.5 M	SNV	LB	2 +	2
1046037	GNA11	c.889+4C>T	--	NM_002067.5 M	SNV	VUS	2 +	2
1164828	GNA11	c.915G>A	p.Ala305= (p.A305=)	NM_002067.5 M	SNV	LB	2 +	2
1564725	GNA11	c.889+7C>T	--	NM_002067.5 M	SNV	LB	2 +	2
1380445	GNA11	c.605+5C>T	--	NM_002067.5 M	SNV	VUS	2 +	2
1166475	GNA11	c.489C>T	p.Asp163= (p.D163=)	NM_002067.5 M	SNV	LB	2 +	2
1166476	GNA11	c.240C>T	p.Tyr80= (p.Y80=)	NM_002067.5 M	SNV	LB	2 +	2
714387	GNA11	c.705C>T	p.Tyr235= (p.Y235=)	NM_002067.5 M	SNV	LB	2 +	2
1578150	GNA11	c.606-6T>C	--	NM_002067.5 M	SNV	LB	2 +	2
1166032	GNA11	c.322-10G>A	--	NM_002067.5 M	SNV	LB	2 +	2
1557723	GNA11	c.912G>A	p.Ala304= (p.A304=)	NM_002067.5 M	SNV	LB	2 +	2
1021156	GNA11	c.805G>A	p.Val269Ile (p.V269I)	NM_002067.5 M	SNV	VUS	2 +	2
1041640	GNA11	c.138C>T	p.Gly46= (p.G46=)	NM_002067.5 M	SNV	LB	2 +	2
60663	GNA11	c.542G>A	p.Arg181Gln (p.R181Q)	NM_002067.5 M	SNV	P	1 +	2
1494776	GNA11	c.592A>C	p.Asn198His (p.N198H)	NM_002067.5 M	SNV	VUS	2 +	2
962298	GNA11	c.287C>T	p.Thr96Met (p.T96M)	NM_002067.5 M	SNV	VUS	2 +	2
60665	GNA11	c.178C>T	p.Arg60Cys (p.R60C)	NM_002067.5 M	SNV	P	2 +	2
155926	GNA11	c.179G>T	p.Arg60Leu (p.R60L)	NM_002067.5 M	SNV	P	1 +	2
1647955	GNA11	c.889+14C>T	--	NM_002067.5 M	SNV	LB	2 +	2
1558386	GNA11	c.477-12G>A	--	NM_002067.5 M	SNV	LB	2 +	2

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