5879[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 58516	GRCh38/hg38 7p22.1(chr7:6137098-6398566)x1	CYTH3, FAM220A +11 more	Copy number loss	See cases	GPathogenic
Select item 152093	GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	CYTH3, DAGLB +42 more	Copy number gain	See cases	GUncertain significance
Select item 154421	GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	CYTH3, DAGLB +28 more	Copy number loss	See cases	GUncertain significance
Select item 3233523	NM_006908.5(RAC1):c.12C>G (p.Ile4Met)	LOC129997928, RAC1 (I4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339089	NM_006908.5(RAC1):c.15G>A (p.Lys5=)	LOC129997928, RAC1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1301752	NM_006908.5(RAC1):c.23_35+12dup	LOC129997928, RAC1	Duplication (splice donor variant)	not specified	GUncertain significance
Select item 3371795	NM_006908.5(RAC1):c.29G>C (p.Gly10Ala)	LOC129997928, RAC1 (G10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722445	NM_006908.5(RAC1):c.35+2T>G	LOC129997928, RAC1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3251501	NM_006908.5(RAC1):c.35+15G>A	LOC129997928, RAC1	Single nucleotide variant (intron variant)	not specified	GLikely benign
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	GBenign
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 3377146	NM_006908.5(RAC1):c.94T>C (p.Tyr32His)	RAC1 (Y32H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 48	GPathogenic
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3341010	NM_006908.5(RAC1):c.122C>T (p.Ser41Phe)	RAC1 (S41F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3377155	NM_006908.5(RAC1):c.176C>G (p.Ala59Gly)	RAC1 (A59G)	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)	Intellectual disability, autosomal dominant 48 +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 3375905	NM_006908.5(RAC1):c.374C>A (p.Thr125Lys)	RAC1 (T125K +1 more)	Single nucleotide variant (missense variant)	not provided	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 3378146	NM_006908.5(RAC1):c.454G>A (p.Val152Ile)	RAC1 (V152I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not provided +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 3372446	NM_006908.5(RAC1):c.511G>A (p.Glu171Lys)	RAC1 (E171K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024640	GRCh37/hg19 7p22.1(chr7:6438293-6450011)x1	DAGLB, RAC1	Copy number loss	not provided	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1809360	GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1483586	NC_000007.13:g.(?_6026370)_(6744804_?)dup	AIMP2, CYTH3 +13 more	Duplication	not provided	GUncertain significance
Select item 988935	GRCh37/hg19 7p22.1(chr7:6406506-6466407)x1	DAGLB, RAC1	Copy number loss	not provided	GUncertain significance

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