ClinVar for MedGen (Select 1740566) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333551	NM_002872.5(RAC2):c.97A>G (p.Ile33Val)	RAC2 (I33V)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome +1 more	GUncertain significance
Select item 1327932	NM_002872.5(RAC2):c.448+25C>G	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia +4 more	GBenign
Select item 1327931	NM_002872.5(RAC2):c.448+37A>G	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia +4 more	GBenign
Select item 1164430	NM_002872.5(RAC2):c.226-21dup	RAC2	Duplication (intron variant)	Neutrophil immunodeficiency syndrome +4 more	GBenign
Select item 977225	NM_002872.5(RAC2):c.275A>C (p.Asn92Thr)	RAC2 (N92T)	Single nucleotide variant (missense variant)	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	GPathogenic
Select item 977224	NM_002872.5(RAC2):c.101C>A (p.Pro34His)	RAC2 (P34H)	Single nucleotide variant (missense variant)	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	GPathogenic
Select item 464885	NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)	RAC2 (E62K)	Single nucleotide variant (missense variant)	See cases +10 more	GPathogenic/Likely pathogenic
Select item 138865	NM_002872.5(RAC2):c.81C>G (p.Ala27=)	RAC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign

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