Related gene-specific medical variations for Gene (Select 5880) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247722	NC_000022.10:g.(?_37640134)_(37640188_?)del	RAC2	Deletion	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2964047	NM_002872.5(RAC2):c.426C>T (p.Gly142=)	LOC130067355, RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2868344	NM_002872.5(RAC2):c.427C>T (p.Leu143=)	LOC130067355, RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2828869	NM_002872.5(RAC2):c.10A>G (p.Ile4Val)	LOC130067357, RAC2 (I4V)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2193161	NM_002872.5(RAC2):c.448+7G>T	RAC2, LOC130067355	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2158722	NM_002872.5(RAC2):c.432A>C (p.Ala144=)	LOC130067355, RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2032974	NM_002872.5(RAC2):c.448+18A>C	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1478398	NM_002872.5(RAC2):c.448+12G>A	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1327932	NM_002872.5(RAC2):c.448+25C>G	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome +3 more	GBenign
Select item 1327931	NM_002872.5(RAC2):c.448+37A>G	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome +3 more	GBenign
Select item 1170511	NM_002872.5(RAC2):c.448+11C>T	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GBenign
Select item 1141352	NM_002872.5(RAC2):c.420G>A (p.Pro140=)	LOC130067355, RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 798394	NM_002872.5(RAC2):c.12C>T (p.Ile4=)	LOC130067357, RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 663023	NM_002872.5(RAC2):c.31G>A (p.Asp11Asn)	LOC130067357, RAC2 (D11N)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 657624	NM_002872.5(RAC2):c.32A>T (p.Asp11Val)	LOC130067357, RAC2 (D11V)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 161602	NM_002872.5(RAC2):c.225+1G>A	RAC2	Single nucleotide variant (splice donor variant)	Malignant tumor of prostate	GUncertain significance