"GeneDx"[submitter] AND "RAC3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 3340843	NM_005052.3(RAC3):c.164T>A (p.Leu55Gln)	RAC3 (L55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 1695791	NM_005052.3(RAC3):c.203G>A (p.Arg68Gln)	RAC3 (R68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372318	NM_005052.3(RAC3):c.288G>A (p.Lys96=)	RAC3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3368056	NM_005052.3(RAC3):c.519C>G (p.Ile173Met)	RAC3 (I173M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3364872	NM_005052.3(RAC3):c.536C>A (p.Pro179Gln)	RAC3 (P179Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3360124	NM_005052.3(RAC3):c.36-6C>G	RAC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance