ClinVar for MedGen (Select 374920) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	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 3021823	NM_002872.5(RAC2):c.277G>A (p.Val93Ile)	RAC2 (V93I)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 3019642	NM_002872.5(RAC2):c.87C>T (p.Pro29=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2988977	NM_002872.5(RAC2):c.288+14G>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2985695	NM_002872.5(RAC2):c.226-17G>A	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2973292	NM_002872.5(RAC2):c.289-6G>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2971856	NM_002872.5(RAC2):c.369G>A (p.Lys123=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 2908519	NM_002872.5(RAC2):c.546G>A (p.Thr182=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2904520	NM_002872.5(RAC2):c.197G>A (p.Arg66His)	RAC2 (R66H)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2903854	NM_002872.5(RAC2):c.228C>T (p.Asp76=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2897096	NM_002872.5(RAC2):c.40G>A (p.Val14Met)	RAC2 (V14M)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome +1 more	GUncertain significance
Select item 2894276	NM_002872.5(RAC2):c.333C>A (p.Ile111=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2874377	NM_002872.5(RAC2):c.225G>A (p.Thr75=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2873185	NM_002872.5(RAC2):c.363C>A (p.Asp121Glu)	RAC2 (D121E)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 2868060	NM_002872.5(RAC2):c.36-16A>G	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2838979	NM_002872.5(RAC2):c.47A>G (p.Lys16Arg)	RAC2 (K16R)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2836750	NM_002872.5(RAC2):c.226-19_226-17del	RAC2	Deletion (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2836749	NM_002872.5(RAC2):c.226-14T>C	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2832127	NM_002872.5(RAC2):c.452C>G (p.Ser151Trp)	RAC2 (S151W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2830502	NM_002872.5(RAC2):c.141C>T (p.Asp47=)	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 2827835	NM_002872.5(RAC2):c.249C>T (p.Ser83=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2798072	NM_002872.5(RAC2):c.547C>A (p.Arg183=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2783947	NM_002872.5(RAC2):c.525C>G (p.Ala175=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2782633	NM_002872.5(RAC2):c.501C>G (p.Thr167=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2770774	NM_002872.5(RAC2):c.521G>A (p.Arg174Gln)	RAC2 (R174Q)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2764626	NM_002872.5(RAC2):c.371A>G (p.Asp124Gly)	RAC2 (D124G)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2759148	NM_002872.5(RAC2):c.101C>G (p.Pro34Arg)	RAC2 (P34R)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2751264	NM_002872.5(RAC2):c.261A>T (p.Pro87=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2749510	NM_002872.5(RAC2):c.340G>C (p.Gly114Arg)	RAC2 (G114R)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2728166	NM_002872.5(RAC2):c.288+11C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2727780	NM_002872.5(RAC2):c.207G>C (p.Pro69=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2721312	NM_002872.5(RAC2):c.288+3G>C	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2719469	NM_002872.5(RAC2):c.108-20G>A	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2703983	NM_002872.5(RAC2):c.225+13C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2700873	NM_002872.5(RAC2):c.258C>T (p.Ser86=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2695902	NM_002872.5(RAC2):c.45C>T (p.Gly15=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2193161	NM_002872.5(RAC2):c.448+7G>T	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2185388	NM_002872.5(RAC2):c.225+16C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2170627	NM_002872.5(RAC2):c.522G>A (p.Arg174=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2158722	NM_002872.5(RAC2):c.432A>C (p.Ala144=)	RAC2, LOC130067355	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2154280	NM_002872.5(RAC2):c.108-19C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2149628	NM_002872.5(RAC2):c.567C>T (p.Cys189=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2141607	NM_002872.5(RAC2):c.35+20T>C	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2123217	NM_002872.5(RAC2):c.183G>A (p.Gln61=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2105373	NM_002872.5(RAC2):c.298G>A (p.Glu100Lys)	RAC2 (E100K)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2101207	NM_002872.5(RAC2):c.520C>A (p.Arg174=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2089949	NM_002872.5(RAC2):c.288+11del	RAC2	Deletion (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2055676	NM_002872.5(RAC2):c.202C>T (p.Arg68Trp)	RAC2 (R68W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2052978	NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)	RAC2 (Q61K)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GLikely pathogenic
Select item 2052253	NM_002872.5(RAC2):c.452C>T (p.Ser151Leu)	RAC2 (S151L)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2044224	NM_002872.5(RAC2):c.449-15C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2037861	NM_002872.5(RAC2):c.349C>A (p.Leu117Met)	RAC2 (L117M)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 2036885	NM_002872.5(RAC2):c.36-18G>A	RAC2	Single nucleotide variant (intron 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 2005092	NM_002872.5(RAC2):c.317C>G (p.Pro106Arg)	RAC2 (P106R)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1999962	NM_002872.5(RAC2):c.75C>T (p.Thr25=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1984409	NM_002872.5(RAC2):c.378C>T (p.Ile126=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1967623	NM_002872.5(RAC2):c.206C>T (p.Pro69Leu)	RAC2 (P69L)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1966797	NM_002872.5(RAC2):c.226-10C>G	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1959426	NM_002872.5(RAC2):c.162G>A (p.Gly54=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1946412	NM_002872.5(RAC2):c.54C>T (p.Cys18=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1939975	NM_002872.5(RAC2):c.108-11G>A	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1920943	NM_002872.5(RAC2):c.264C>G (p.Ala88=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1912741	NM_002872.5(RAC2):c.288+16T>C	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1906084	NM_002872.5(RAC2):c.226-13G>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1903909	NM_002872.5(RAC2):c.569G>C (p.Ser190Thr)	RAC2 (S190T)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1673736	NM_002872.5(RAC2):c.226-16C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1672003	NM_002872.5(RAC2):c.226-18C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1654168	NM_002872.5(RAC2):c.561C>T (p.Arg187=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1604450	NM_002872.5(RAC2):c.192C>T (p.Tyr64=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1574320	NM_002872.5(RAC2):c.288+10A>G	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1558146	NM_002872.5(RAC2):c.528G>A (p.Val176=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1553619	NM_002872.5(RAC2):c.474A>G (p.Ser158=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1543864	NM_002872.5(RAC2):c.35+20T>G	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1540378	NM_002872.5(RAC2):c.288+15G>C	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1530490	NM_002872.5(RAC2):c.35+15G>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1524605	NM_002872.5(RAC2):c.54C>G (p.Cys18Trp)	RAC2 (C18W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1521799	NM_002872.5(RAC2):c.283G>A (p.Ala95Thr)	RAC2 (A95T)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 1478191	NM_002872.5(RAC2):c.304C>T (p.Arg102Trp)	RAC2 (R102W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1447690	NM_002872.5(RAC2):c.175G>T (p.Ala59Ser)	RAC2 (A59S)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1445776	NM_002872.5(RAC2):c.347A>G (p.Lys116Arg)	RAC2 (K116R)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1445460	NM_002872.5(RAC2):c.520C>T (p.Arg174Trp)	RAC2 (R174W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1410696	NC_000022.10:g.(?_37622713)_(37640188_?)dup	RAC2	Duplication	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1382760	NM_002872.5(RAC2):c.305G>A (p.Arg102Gln)	RAC2 (R102Q)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1375066	NM_002872.5(RAC2):c.517A>C (p.Ile173Leu)	RAC2 (I173L)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1364327	NM_002872.5(RAC2):c.559C>T (p.Arg187Cys)	RAC2 (R187C)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1349653	NM_002872.5(RAC2):c.574C>T (p.Leu192Phe)	RAC2 (L192F)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 1301643	NM_002872.5(RAC2):c.328A>G (p.Ile110Val)	RAC2 (I110V)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1170511	NM_002872.5(RAC2):c.448+11C>T	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GBenign
Select item 1164430	NM_002872.5(RAC2):c.226-21dup	RAC2	Duplication (intron variant)	Neutrophil immunodeficiency syndrome +4 more	GBenign
Select item 1147190	NM_002872.5(RAC2):c.334C>T (p.Leu112=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 1138783	NM_002872.5(RAC2):c.81C>A (p.Ala27=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign

<< First< Prev

Page of 2