"Illumina Laboratory Services, Illumina"[submitter] AND "RASA1"[gene] - ClinVar

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 354501	NM_002890.3(RASA1):c.-198G>T	RASA1	Single nucleotide variant (5 prime UTR variant)	Parkes Weber syndrome +2 more	GLikely benign
Select item 354502	NM_002890.3(RASA1):c.-179A>C	RASA1	Single nucleotide variant (5 prime UTR variant)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354503	NM_002890.3(RASA1):c.-128GTT[2]	RASA1	Microsatellite (5 prime UTR variant)	Capillary malformation-arteriovenous malformation 1 +1 more	GLikely benign
Select item 906889	NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)	RASA1 (T15I)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 907876	NM_002890.3(RASA1):c.75G>A (p.Ala25=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 907877	NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)	RASA1 (S27P)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 464852	NM_002890.3(RASA1):c.162G>C (p.Glu54Asp)	RASA1 (E54D)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +3 more	GBenign/Likely benign
Select item 354504	NM_002890.3(RASA1):c.209A>G (p.Glu70Gly)	RASA1 (E70G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 354505	NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)	RASA1 (G75A)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1 +5 more	GBenign/Likely benign
Select item 354506	NM_002890.3(RASA1):c.248G>A (p.Gly83Glu)	RASA1 (G83E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 354507	NM_002890.3(RASA1):c.260C>G (p.Thr87Arg)	RASA1 (T87R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1 +3 more	GConflicting classifications of pathogenicity
Select item 213659	NM_002890.3(RASA1):c.296C>T (p.Ala99Val)	RASA1 (A99V)	Single nucleotide variant (missense variant)	Parkes Weber syndrome +6 more	GBenign/Likely benign
Select item 354508	NM_002890.3(RASA1):c.351C>T (p.Thr117=)	RASA1	Single nucleotide variant (synonymous variant)	Parkes Weber syndrome +1 more	GUncertain significance
Select item 904566	NM_002890.3(RASA1):c.360C>G (p.Pro120=)	RASA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 354509	NM_002890.3(RASA1):c.360C>A (p.Pro120=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation 1 +5 more	GBenign/Likely benign
Select item 904567	NM_002890.3(RASA1):c.402T>C (p.Phe134=)	RASA1	Single nucleotide variant (synonymous variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 354510	NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)	RASA1 (P136L)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +3 more	GConflicting classifications of pathogenicity
Select item 904568	NM_002890.3(RASA1):c.567G>A (p.Thr189=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity
Select item 354511	NM_002890.3(RASA1):c.612T>C (p.Tyr204=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 905355	NM_002890.3(RASA1):c.703A>G (p.Met235Val)	CCNH, RASA1 (M235V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 354512	NM_002890.3(RASA1):c.829-12T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 905356	NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)	CCNH, RASA1 (D295E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 354513	NM_002890.3(RASA1):c.899+8A>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 354514	NM_002890.3(RASA1):c.1102+10T>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome +3 more	GBenign/Likely benign
Select item 354515	NM_002890.3(RASA1):c.1305T>C (p.Tyr435=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 354516	NM_002890.3(RASA1):c.1371G>A (p.Lys457=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 354517	NM_002890.3(RASA1):c.1394G>A (p.Arg465His)	CCNH, RASA1 (R465H +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +4 more	GBenign/Likely benign
Select item 354518	NM_002890.3(RASA1):c.1494G>A (p.Glu498=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 354519	NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)	CCNH, RASA1 (Y528C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 906969	NM_002890.3(RASA1):c.1611-15G>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity
Select item 354520	NM_002890.3(RASA1):c.1777-15_1777-14insA	CCNH, RASA1	Insertion (intron variant)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 213658	NM_002890.3(RASA1):c.1777-14T>A	CCNH, RASA1	Single nucleotide variant (intron variant)	Parkes Weber syndrome +3 more	GBenign
Select item 354521	NM_002890.3(RASA1):c.2011+4A>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Parkes Weber syndrome +1 more	GUncertain significance
Select item 354522	NM_002890.3(RASA1):c.2049G>C (p.Gly683=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 907944	NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)	CCNH, RASA1 (P697A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 907945	NM_002890.3(RASA1):c.2139T>C (p.Ser713=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity
Select item 1328173	NM_002890.3(RASA1):c.2185-5T>G	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 354523	NM_002890.3(RASA1):c.2259C>T (p.Ala753=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 697010	NM_002890.3(RASA1):c.2286C>T (p.His762=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 695889	NM_002890.3(RASA1):c.2288A>T (p.Glu763Val)	CCNH, RASA1 (E763V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GBenign/Likely benign
Select item 354524	NM_002890.3(RASA1):c.2487+11A>C	CCNH, RASA1	Single nucleotide variant (intron variant)	Parkes Weber syndrome +1 more	GUncertain significance
Select item 239411	NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn)	CCNH, RASA1 (T843N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 354525	NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)	CCNH, RASA1 (P868L +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +3 more	GConflicting classifications of pathogenicity
Select item 354526	NM_002890.3(RASA1):c.2608T>C (p.Leu870=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 354527	NM_002890.3(RASA1):c.2691-11C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1 +3 more	GBenign/Likely benign
Select item 354528	NM_002890.3(RASA1):c.2926-14C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 354529	NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln)	CCNH, RASA1 (R1010Q +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354530	NM_002890.3(RASA1):c.*9G>A	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354531	NM_002890.3(RASA1):c.*16T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity
Select item 905428	NM_002890.3(RASA1):c.*96C>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 354532	NM_002890.3(RASA1):c.*97A>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +2 more	GLikely benign
Select item 905429	NM_002890.3(RASA1):c.*164A>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GBenign
Select item 905430	NM_002890.3(RASA1):c.*267C>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 905948	NM_002890.3(RASA1):c.*271A>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 354533	NM_002890.3(RASA1):c.*298T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354534	NM_002890.3(RASA1):c.*375T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GLikely benign
Select item 354536	NM_002890.3(RASA1):c.*424G>T	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GLikely benign
Select item 354535	NM_002890.3(RASA1):c.*424G>A	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354537	NM_002890.3(RASA1):c.*448T>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 354538	NM_002890.3(RASA1):c.*476T>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +2 more	GConflicting classifications of pathogenicity
Select item 354539	NM_002890.3(RASA1):c.*543A>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GLikely benign
Select item 354540	NM_002890.3(RASA1):c.*572C>A	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 908022	NM_002890.3(RASA1):c.*577T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 908023	NM_002890.3(RASA1):c.*606G>A	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 354541	NM_002890.3(RASA1):c.*733ATT[1]	CCNH, RASA1	Microsatellite (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GLikely benign
Select item 908024	NM_002890.3(RASA1):c.*748A>T	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 354542	NM_002890.3(RASA1):c.*818T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GLikely benign
Select item 354543	NM_002890.3(RASA1):c.*840ATT[1]	CCNH, RASA1	Microsatellite (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 354544	NM_002890.3(RASA1):c.*852A>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GConflicting classifications of pathogenicity
Select item 354545	NM_002890.3(RASA1):c.*1000GTTAA[1]	CCNH, RASA1	Microsatellite (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GUncertain significance
Select item 908025	NM_002890.3(RASA1):c.*1001T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1	GBenign

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Items: 71