"GeneDx"[submitter] AND "RAC1"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58516	GRCh38/hg38 7p22.1(chr7:6137098-6398566)x1	CYTH3, FAM220A +11 more	Copy number loss	See cases	GPathogenic
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 2663683	NM_006908.5(RAC1):c.40G>A (p.Val14Ile)	RAC1 (V14I)	Single nucleotide variant (missense variant)	not provided	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 1801095	NM_006908.5(RAC1):c.73A>T (p.Thr25Ser)	RAC1 (T25S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2444529	NM_006908.5(RAC1):c.92A>T (p.Glu31Val)	RAC1 (E31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2505850	NM_006908.5(RAC1):c.140A>G (p.Asp47Gly)	RAC1 (D47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2446363	NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)	RAC1 (Q61E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 445283	NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp)	RAC1 (Y64D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 1801211	NM_006908.5(RAC1):c.226-1406dup	RAC1	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 253920	GRCh37/hg19 7p22.1(chr7:6426906-6457236)x1	DAGLB, RAC1	Copy number loss	See cases	GUncertain significance
Select item 253741	GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3	GRID2IP, DAGLB +4 more	Copy number gain	See cases	GUncertain significance
Select item 3360913	NM_006908.5(RAC1):c.108-3C>G	RAC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 29