ClinVar for MedGen (Select 462090) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431671	NM_152866.3(MS4A1):c.-279-10del	MS4A1	Deletion (intron variant)	Immunodeficiency, common variable, 5	GUncertain significance
Select item 1520800	NM_152866.3(MS4A1):c.718A>G (p.Ile240Val)	MS4A1 (I240V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1037439	NM_152866.3(MS4A1):c.352A>C (p.Ile118Leu)	MS4A1 (I118L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811262	NM_152866.3(MS4A1):c.194C>T (p.Ala65Val)	MS4A1 (A65V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 5	GUncertain significance
Select item 626143	NM_152866.3(MS4A1):c.315G>C (p.Glu105Asp)	MS4A1 (E105D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 618716	NM_152866.3(MS4A1):c.216C>T (p.Ile72=)	MS4A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 17705	NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT	MS4A1	Indel (intron variant)	Immunodeficiency, common variable, 5	GPathogenic

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