RHOA[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252809	NM_001664.4(RHOA):c.503G>A (p.Arg168Lys)	RHOA (R148K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3031885	NM_001664.4(RHOA):c.414G>A (p.Pro138=)	RHOA (G185S)	Single nucleotide variant (synonymous variant +2 more)	RHOA-related disorder	GLikely benign
Select item 801330	NM_001664.4(RHOA):c.211C>T (p.Pro71Ser)	RHOA (P71S +1 more)	Single nucleotide variant (missense variant +2 more)	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	GPathogenic
Select item 1172623	NM_001664.4(RHOA):c.208A>G (p.Arg70Gly)	RHOA (R50G +1 more)	Single nucleotide variant (missense variant +2 more)	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	GLikely pathogenic
Select item 2574338	NM_001664.4(RHOA):c.203G>A (p.Arg68His)	RHOA (R48H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 521191	NM_001664.4(RHOA):c.196T>C (p.Tyr66His)	RHOA (Y66H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 829804	NM_001664.4(RHOA):c.181G>A (p.Ala61Thr)	RHOA (A61T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 695069	NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)	RHOA (E47K)	Single nucleotide variant (missense variant +2 more)	neuro-ectodermal phenotype +3 more	GPathogenic
Select item 376524	NM_001664.4(RHOA):c.125A>T (p.Tyr42Phe)	RHOA (Y42F)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376523	NM_001664.4(RHOA):c.125A>C (p.Tyr42Ser)	RHOA (Y42S)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376522	NM_001664.4(RHOA):c.125A>G (p.Tyr42Cys)	RHOA (Y42C)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 376518	NM_001664.4(RHOA):c.118G>A (p.Glu40Lys)	RHOA (E40K)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +3 more	GLikely pathogenic
Select item 376517	NM_001664.4(RHOA):c.118G>C (p.Glu40Gln)	RHOA (E40Q)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm +3 more	GLikely pathogenic
Select item 2681515	NM_001664.4(RHOA):c.50G>T (p.Gly17Val)	RHOA (G17V)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GPathogenic
Select item 720567	NM_001664.4(RHOA):c.27G>A (p.Val9=)	RHOA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 376521	NM_001664.4(RHOA):c.14G>T (p.Arg5Leu)	RHOA (R5L)	Single nucleotide variant (missense variant +1 more)	Carcinoma of esophagus +4 more	GLikely pathogenic
Select item 376520	NM_001664.4(RHOA):c.14G>A (p.Arg5Gln)	RHOA (R5Q)	Single nucleotide variant (missense variant +1 more)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376519	NM_001664.4(RHOA):c.13C>T (p.Arg5Trp)	RHOA (R5W)	Single nucleotide variant (missense variant +1 more)	Carcinoma of esophagus +4 more	GLikely pathogenic