C5231416[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977758	NM_005052.3(RAC3):c.34G>C (p.Gly12Arg)	RAC3 (G12R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GLikely pathogenic
Select item 585004	NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)	RAC3 (P29L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +2 more	GPathogenic; association
Select item 488059	NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	RAC3 (A59G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +1 more	GConflicting classifications of pathogenicity
Select item 1723153	NM_005052.3(RAC3):c.183GGA[1] (p.Glu62del)	RAC3 (E62del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GPathogenic
Select item 585005	NM_005052.3(RAC3):c.182A>T (p.Gln61Leu)	RAC3 (Q61L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +2 more	GPathogenic; association
Select item 425149	NM_005052.3(RAC3):c.184G>A (p.Glu62Lys)	RAC3 (E62K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 871529	NM_005052.3(RAC3):c.187G>A (p.Asp63Asn)	RAC3 (D63N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 982386	NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys)	RAC3 (Y64C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	GLikely pathogenic