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Mutation Direct

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Gene: MS4A1 & Disease: CVID5, 21 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1037439	MS4A1	c.352A>C	p.Ile118Leu (p.I118L)	NM_152866.3 M	SNV	VUS	1 +	2
1520800	MS4A1	c.718A>G	p.Ile240Val (p.I240V)	NM_152866.3 M	SNV	VUS	1 +	2
626143	MS4A1	c.315G>C	p.Glu105Asp (p.E105D)	NM_152866.3 M	SNV	VUS	1 +	2
1037439	MS4A1	c.352A>C	p.Ile118Leu (p.I118L)	NM_021950.4	SNV	VUS	1 +	2
1037439	MS4A1	c.352A>C	p.Ile118Leu (p.I118L)	NM_152867.2	SNV	VUS	1 +	2
1520800	MS4A1	c.718A>G	p.Ile240Val (p.I240V)	NM_021950.4	SNV	VUS	1 +	2
1520800	MS4A1	c.718A>G	p.Ile240Val (p.I240V)	NM_152867.2	SNV	VUS	1 +	2
626143	MS4A1	c.315G>C	p.Glu105Asp (p.E105D)	NM_021950.4	SNV	VUS	1 +	2
626143	MS4A1	c.315G>C	p.Glu105Asp (p.E105D)	NM_152867.2	SNV	VUS	1 +	2
618716	MS4A1	c.216C>T	p.Ile72= (p.I72=)	NM_152866.3 M	SNV	B	1 +	1
17705	MS4A1	c.336+6_336+7delinsGACATATGGTT	--	NM_152866.3 M	Indel	P	1 +	1
618716	MS4A1	c.216C>T	p.Ile72= (p.I72=)	NM_021950.4	SNV	B	1 +	1
618716	MS4A1	c.216C>T	p.Ile72= (p.I72=)	NM_152867.2	SNV	B	1 +	1
17705	MS4A1	c.336+6_336+7delinsGACATATGGTT	--	NM_152867.2	Indel	P	1 +	1
17705	MS4A1	c.336+6_336+7delinsGACATATGGTT	--	NM_021950.4	Indel	P	1 +	1
2431671	MS4A1	c.-279-10del	--	NM_152866.3 M	Del	VUS	1 +	0
811262	MS4A1	c.194C>T	p.Ala65Val (p.A65V)	NM_152866.3 M	SNV	VUS	1 +	0
2431671	MS4A1	c.-190-1123del	--	NM_152867.2	Del	VUS	1 +	0
2431671	MS4A1	c.-16-1297del	--	NM_021950.4	Del	VUS	1 +	0
811262	MS4A1	c.194C>T	p.Ala65Val (p.A65V)	NM_021950.4	SNV	VUS	1 +	0

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