ClinVar for Gene (Select 387) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1510798	NC_000003.11:g.(?_49394821)_(49459947_?)dup	AMT, GPX1 +3 more	Duplication	Non-ketotic hyperglycinemia	GUncertain significance
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 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	GPX1, C3orf84 +11 more	Deletion	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic
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 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
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 720567	NM_001664.4(RHOA):c.27G>A (p.Val9=)	RHOA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 695069	NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)	RHOA (E47K)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
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 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	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 376521	NM_001664.4(RHOA):c.14G>T (p.Arg5Leu)	RHOA (R5L)	Single nucleotide variant (missense variant +1 more)	Non-Hodgkin lymphoma +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)	Non-Hodgkin lymphoma +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
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 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28