5880[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 185

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance
Select item 1087092	NM_002872.5(RAC2):c.579G>A (p.Ter193=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 961653	NM_002872.5(RAC2):c.571C>T (p.Leu191Phe)	RAC2 (L191F)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 2149628	NM_002872.5(RAC2):c.567C>T (p.Cys189=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 803686	NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)	RAC2 (A188T)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GConflicting classifications of pathogenicity
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 1006066	NM_002872.5(RAC2):c.560G>A (p.Arg187His)	RAC2 (R187H)	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 647647	NM_002872.5(RAC2):c.548G>A (p.Arg183Gln)	RAC2 (R183Q)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 432838	NM_002872.5(RAC2):c.547C>T (p.Arg183Trp)	RAC2 (R183W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome +1 more	GUncertain significance
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 577450	NM_002872.5(RAC2):c.545C>T (p.Thr182Met)	RAC2 (T182M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1056472	NM_002872.5(RAC2):c.544A>G (p.Thr182Ala)	RAC2 (T182A)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 2783947	NM_002872.5(RAC2):c.525C>G (p.Ala175=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1128570	NM_002872.5(RAC2):c.525C>T (p.Ala175=)	RAC2	Single nucleotide variant (synonymous 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 2770774	NM_002872.5(RAC2):c.521G>A (p.Arg174Gln)	RAC2 (R174Q)	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 1445460	NM_002872.5(RAC2):c.520C>T (p.Arg174Trp)	RAC2 (R174W)	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 1042756	NM_002872.5(RAC2):c.511G>A (p.Glu171Lys)	RAC2 (E171K)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1124005	NM_002872.5(RAC2):c.510C>T (p.Asp170=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2260041	NM_002872.5(RAC2):c.507C>G (p.Phe169Leu)	RAC2 (F169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1088056	NM_002872.5(RAC2):c.507C>T (p.Phe169=)	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 533473	NM_002872.5(RAC2):c.501C>T (p.Thr167=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome +2 more	GBenign
Select item 493343	NM_002872.5(RAC2):c.487A>T (p.Arg163Ter)	RAC2 (R163*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 796965	NM_002872.5(RAC2):c.483C>T (p.Thr161=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 138864	NM_002872.5(RAC2):c.477T>C (p.Ala159=)	RAC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 3047060	NM_002872.5(RAC2):c.453G>A (p.Ser151=)	RAC2	Single nucleotide variant (synonymous variant)	RAC2-related disorder	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 2052253	NM_002872.5(RAC2):c.452C>T (p.Ser151Leu)	RAC2 (S151L)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1111706	NM_002872.5(RAC2):c.450C>T (p.Asp150=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 649161	NM_002872.5(RAC2):c.449-3C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1088526	NM_002872.5(RAC2):c.449-9C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2044224	NM_002872.5(RAC2):c.449-15C>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 378455	NM_002872.5(RAC2):c.449-18G>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome +1 more	GBenign/Likely benign
Select item 2688324	NM_002872.5(RAC2):c.449-1206A>G	RAC2	Single nucleotide variant (intron variant)	not specified	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 1327932	NM_002872.5(RAC2):c.448+25C>G	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome +3 more	GBenign
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 1170511	NM_002872.5(RAC2):c.448+11C>T	LOC130067355, RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GBenign
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 2868344	NM_002872.5(RAC2):c.427C>T (p.Leu143=)	LOC130067355, 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 1141352	NM_002872.5(RAC2):c.420G>A (p.Pro140=)	LOC130067355, RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 2653113	NM_002872.5(RAC2):c.399G>A (p.Lys133=)	RAC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027219	NM_002872.5(RAC2):c.379G>A (p.Glu127Lys)	RAC2 (E127K)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 1984409	NM_002872.5(RAC2):c.378C>T (p.Ile126=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome +1 more	GLikely benign
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 2971856	NM_002872.5(RAC2):c.369G>A (p.Lys123=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 803687	NM_002872.5(RAC2):c.364G>A (p.Asp122Asn)	RAC2 (D122N)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 731337	NM_002872.5(RAC2):c.363C>T (p.Asp121=)	RAC2	Single nucleotide variant (synonymous 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 1124906	NM_002872.5(RAC2):c.348G>A (p.Lys116=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 2749510	NM_002872.5(RAC2):c.340G>C (p.Gly114Arg)	RAC2 (G114R)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 2894276	NM_002872.5(RAC2):c.333C>A (p.Ile111=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 2005092	NM_002872.5(RAC2):c.317C>G (p.Pro106Arg)	RAC2 (P106R)	Single nucleotide variant (missense variant)	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 1478191	NM_002872.5(RAC2):c.304C>T (p.Arg102Trp)	RAC2 (R102W)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 3312257	NM_002872.5(RAC2):c.296C>T (p.Pro99Leu)	RAC2 (P99L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973292	NM_002872.5(RAC2):c.289-6G>T	RAC2	Single nucleotide variant (intron variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 1117685	NM_002872.5(RAC2):c.289-18C>T	RAC2	Single nucleotide variant (intron 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 1540378	NM_002872.5(RAC2):c.288+15G>C	RAC2	Single nucleotide variant (intron 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 2728166	NM_002872.5(RAC2):c.288+11C>T	RAC2	Single nucleotide variant (intron 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 1574320	NM_002872.5(RAC2):c.288+10A>G	RAC2	Single nucleotide variant (intron 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 1521799	NM_002872.5(RAC2):c.283G>A (p.Ala95Thr)	RAC2 (A95T)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
Select item 758336	NM_002872.5(RAC2):c.282C>T (p.Arg94=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 647415	NM_002872.5(RAC2):c.281G>A (p.Arg94His)	RAC2 (R94H)	Single nucleotide variant (missense variant)	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 1101187	NM_002872.5(RAC2):c.276C>T (p.Asn92=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
Select item 966254	NM_002872.5(RAC2):c.276C>G (p.Asn92Lys)	RAC2 (N92K)	Single nucleotide variant (missense variant)	Neutrophil immunodeficiency syndrome	GUncertain significance
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 1920943	NM_002872.5(RAC2):c.264C>G (p.Ala88=)	RAC2	Single nucleotide variant (synonymous variant)	Neutrophil immunodeficiency syndrome	GLikely benign
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 2321295	NM_002872.5(RAC2):c.259C>T (p.Pro87Ser)	RAC2 (P87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 378454	NM_002872.5(RAC2):c.252C>T (p.Leu84=)	RAC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

<< First< Prev

Page of 2