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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAC2
(I33V)
Single nucleotide variant
(missense variant)
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
+1 more
GUncertain significance
LOC130067355, RAC2
Single nucleotide variant
(intron variant)
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
+3 more
GBenign
LOC130067355, RAC2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
RAC2
Duplication
(intron variant)
not provided
+4 more
GBenign
RAC2
(N92T)
Single nucleotide variant
(missense variant)
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
GPathogenic
RAC2
(P34H)
Single nucleotide variant
(missense variant)
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
GPathogenic
RAC2
(E62K)
Single nucleotide variant
(missense variant)
Lymphopenia
+10 more
GPathogenic/Likely pathogenic
RAC2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
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