ClinVar for MedGen (Select 1619532) - ClinVar

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

Links from MedGen

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2628351	NM_000965.5(RARB):c.986G>A (p.Cys329Tyr)	RARB (C217Y +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 48	GUncertain significance
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 2446363	NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)	RAC1 (Q61E)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 1327930	NM_006908.5(RAC1):c.225+18C>T	RAC1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 48	GBenign
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 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 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 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 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 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 625787	GRCh37/hg19 7p22.1(chr7:6385256-6431775)	RAC1, FAM220A	Copy number loss	Intellectual disability, autosomal dominant 48	GPathogenic
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 445283	NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp)	RAC1 (Y64D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 445280	NM_006908.5(RAC1):c.53G>A (p.Cys18Tyr)	RAC1 (C18Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 218339	NM_000965.5(RARB):c.638T>C (p.Leu213Pro)	RARB (L213P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 88762	NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	RARB (R387C +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 48 +3 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 31