RAC1[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663683	NM_006908.5(RAC1):c.40G>A (p.Val14Ile)	RAC1 (V14I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985919	NM_006908.5(RAC1):c.50C>G (p.Thr17Ser)	RAC1 (T17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445280	NM_006908.5(RAC1):c.53G>A (p.Cys18Tyr)	RAC1 (C18Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2691292	NM_006908.5(RAC1):c.69C>T (p.Tyr23=)	RAC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1801095	NM_006908.5(RAC1):c.73A>T (p.Thr25Ser)	RAC1 (T25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739976	NM_006908.5(RAC1):c.75C>G (p.Thr25=)	RAC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 986286	NM_006908.5(RAC1):c.77A>G (p.Asn26Ser)	RAC1 (N26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1176530	NM_006908.5(RAC1):c.81A>G (p.Ala27=)	RAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376513	NM_006908.5(RAC1):c.85C>A (p.Pro29Thr)	RAC1 (P29T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376362	NM_006908.5(RAC1):c.85C>T (p.Pro29Ser)	RAC1 (P29S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376512	NM_006908.5(RAC1):c.86C>T (p.Pro29Leu)	RAC1 (P29L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 2444529	NM_006908.5(RAC1):c.92A>T (p.Glu31Val)	RAC1 (E31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327929	NM_006908.5(RAC1):c.107+27C>T	RAC1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 48	GBenign
Select item 445281	NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)	RAC1 (N39S)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 2577934	NM_006908.5(RAC1):c.122_123delinsAC (p.Ser41Tyr)	RAC1 (S41Y)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 3235757	NM_006908.5(RAC1):c.129T>A (p.Asn43Lys)	RAC1 (N43K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GLikely pathogenic
Select item 2505850	NM_006908.5(RAC1):c.140A>G (p.Asp47Gly)	RAC1 (D47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445285	NM_006908.5(RAC1):c.151G>C (p.Val51Leu)	RAC1 (V51L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 445284	NM_006908.5(RAC1):c.151G>A (p.Val51Met)	RAC1 (V51M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2413045	NM_006908.5(RAC1):c.167G>T (p.Trp56Leu)	RAC1 (W56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027690	NM_006908.5(RAC1):c.168G>C (p.Trp56Cys)	RAC1 (W56C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GLikely pathogenic
Select item 2435353	NM_006908.5(RAC1):c.170A>C (p.Asp57Ala)	RAC1 (D57A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 2446363	NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)	RAC1 (Q61E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1727259	NM_006908.5(RAC1):c.184G>A (p.Glu62Lys)	RAC1 (E62K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
Select item 2431922	NM_006908.5(RAC1):c.190T>C (p.Tyr64His)	RAC1 (Y64H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GLikely pathogenic
Select item 445283	NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp)	RAC1 (Y64D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1333690	NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)	RAC1 (Y64C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GLikely pathogenic
Select item 974895	NM_006908.5(RAC1):c.198A>T (p.Arg66Ser)	RAC1 (R66S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48 +1 more	GConflicting classifications of pathogenicity
Select item 2446366	NM_006908.5(RAC1):c.202C>G (p.Arg68Gly)	RAC1 (R68G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
Select item 2446365	NM_006908.5(RAC1):c.202C>A (p.Arg68Ser)	RAC1 (R68S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
Select item 1685419	NM_006908.5(RAC1):c.212C>T (p.Ser71Phe)	RAC1 (S71F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48 +1 more	GPathogenic/Likely pathogenic
Select item 1098331	NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)	RAC1 (P73L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2630794	NM_006908.5(RAC1):c.225+2_225+5del	RAC1	Deletion (splice donor variant)	RAC1-related disorder	GUncertain significance
Select item 1327930	NM_006908.5(RAC1):c.225+18C>T	RAC1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 48	GBenign
Select item 1013535	NM_006908.5(RAC1):c.226-1465G>C	RAC1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely benign
Select item 1804617	NM_006908.5(RAC1):c.226-1444_226-1440dup	RAC1 (I84fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1315377	NM_006908.5(RAC1):c.226-1439T>C	RAC1 (I84T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3039698	NM_006908.5(RAC1):c.226-1414G>A	RAC1	Single nucleotide variant (synonymous variant +1 more)	RAC1-related disorder	GLikely benign
Select item 1801211	NM_006908.5(RAC1):c.226-1406dup	RAC1	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2689856	NM_006908.5(RAC1):c.280C>T (p.Arg94Cys)	RAC1 (R113C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 1343133	NM_006908.5(RAC1):c.284C>T (p.Ala95Val)	RAC1 (A114V +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GLikely benign
Select item 1309379	NM_006908.5(RAC1):c.289-1G>T	RAC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 818029	NM_006908.5(RAC1):c.326_327insGT (p.Ile110fs)	RAC1 (I110fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1033910	NM_006908.5(RAC1):c.372C>G (p.Asp124Glu)	RAC1 (D124E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 2503252	NM_006908.5(RAC1):c.394A>G (p.Lys132Glu)	RAC1 (K132E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1699147	NM_006908.5(RAC1):c.409A>G (p.Ile137Val)	RAC1 (I137V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 2657298	NM_006908.5(RAC1):c.420G>A (p.Pro140=)	RAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 445282	NM_006908.5(RAC1):c.470G>A (p.Cys157Tyr)	RAC1 (C157Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 710249	NM_006908.5(RAC1):c.474G>A (p.Ser158=)	RAC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1727258	NM_006908.5(RAC1):c.475G>A (p.Ala159Thr)	RAC1 (A178T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
Select item 2435354	NM_006908.5(RAC1):c.478C>G (p.Leu160Val)	RAC1 (L160V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 3033212	NM_006908.5(RAC1):c.487C>T (p.Arg163Ter)	RAC1 (R163* +1 more)	Single nucleotide variant (nonsense)	RAC1-related disorder	GUncertain significance
Select item 1176531	NM_006908.5(RAC1):c.493C>G (p.Leu165Val)	RAC1 (L165V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 726231	NM_006908.5(RAC1):c.495C>G (p.Leu165=)	RAC1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 48 +1 more	GBenign/Likely benign
Select item 690390	NM_006908.5(RAC1):c.506T>G (p.Phe169Cys)	RAC1 (F169C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GUncertain significance
Select item 784106	NM_006908.5(RAC1):c.510C>T (p.Asp170=)	RAC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2499036	NM_006908.5(RAC1):c.516G>A (p.Ala172=)	RAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683790	NM_006908.5(RAC1):c.536C>T (p.Pro179Leu)	RAC1 (P179L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3069128	NM_006908.5(RAC1):c.*10C>G	RAC1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3069127	NC_000007.13:g.(?_6414157)_(6439820_6441498)del	RAC1	Deletion	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60