ClinVar for MedGen (Select 1648501) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068038	NM_002890.3(RASA1):c.207dup (p.Glu70fs)	RASA1 (E70fs)	Duplication (frameshift variant)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 2575234	NM_002890.3(RASA1):c.1813A>C (p.Lys605Gln)	CCNH, RASA1 (K428Q +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2503112	NM_002890.3(RASA1):c.353A>G (p.Lys118Arg)	RASA1 (K118R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2500073	NM_002890.3(RASA1):c.539+298G>A	RASA1	Single nucleotide variant (intron variant)	Basal cell carcinoma, susceptibility to, 1 +1 more	GUncertain significance
Select item 2435378	NM_002890.3(RASA1):c.2119C>T (p.Arg707Cys)	CCNH, RASA1 (R530C +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2435377	NM_002890.3(RASA1):c.22_23inv (p.Ser8Leu)	RASA1 (S8L)	Inversion (missense variant)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2435376	NM_002890.3(RASA1):c.2602C>A (p.Pro868Thr)	CCNH, RASA1 (P691T +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 2435375	NM_002890.3(RASA1):c.3070A>C (p.Lys1024Gln)	CCNH, RASA1 (K1024Q +1 more)	Single nucleotide variant (missense variant +3 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 1992410	NM_002890.2:c.540-406_692+21735del	RASA1	Deletion	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1806124	NM_002890.3(RASA1):c.693-1G>C	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 1804998	NM_002890.3(RASA1):c.2474dup (p.Gln826fs)	CCNH, RASA1 (Q649fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1706602	NM_002890.3(RASA1):c.2239C>T (p.Gln747Ter)	CCNH, RASA1 (Q570* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1699012	NM_002890.3(RASA1):c.2655G>A (p.Trp885Ter)	CCNH, RASA1 (W708* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1691334	NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys)	CCNH, RASA1 (I644K +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +2 more	GUncertain significance
Select item 1684041	NM_002890.3(RASA1):c.1995_1999del (p.Ser665fs)	CCNH, RASA1 (S488fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1413094	NM_002890.3(RASA1):c.334G>A (p.Gly112Arg)	RASA1 (G112R)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 1333894	NM_002890.3(RASA1):c.631C>G (p.Arg211Gly)	CCNH, RASA1 (R211G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
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 1326256	NM_002890.3(RASA1):c.1201del (p.Ile401fs)	CCNH, RASA1 (I224fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1302016	NM_002890.3(RASA1):c.1460del (p.Gly487fs)	CCNH, RASA1 (G310fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1185036	NM_002890.3(RASA1):c.3037A>G (p.Ser1013Gly)	CCNH, RASA1 (S1013G +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 1184545	NM_002890.3(RASA1):c.2771del (p.Pro924fs)	CCNH, RASA1 (P747fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 1078218	NM_002890.3(RASA1):c.1209A>G (p.Pro403=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +3 more	GLikely benign
Select item 1033551	NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs)	CCNH, RASA1 (N667fs +1 more)	Indel (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 1033550	NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)	CCNH, RASA1 (I641fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 1000681	NM_002890.3(RASA1):c.239C>T (p.Ala80Val)	RASA1 (A80V)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation syndrome +2 more	GUncertain significance
Select item 987898	NM_002890.3(RASA1):c.1103-1G>T	CCNH, RASA1	Single nucleotide variant (splice acceptor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 981222	NM_002890.3(RASA1):c.499del (p.Glu167fs)	RASA1 (E167fs)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 973512	NM_002890.3(RASA1):c.934_938del (p.Glu312fs)	CCNH, RASA1 (E135fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 973511	NM_002890.3(RASA1):c.2925+1del	CCNH, RASA1	Deletion (splice donor variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 935233	NM_002890.3(RASA1):c.143C>G (p.Pro48Arg)	RASA1 (P48R)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 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
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 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 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 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 907944	NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)	CCNH, RASA1 (P697A +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
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 907876	NM_002890.3(RASA1):c.75G>A (p.Ala25=)	RASA1	Single nucleotide variant (synonymous variant)	RASA1-related condition +3 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 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 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 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 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 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 905356	NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)	CCNH, RASA1 (D295E +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 905355	NM_002890.3(RASA1):c.703A>G (p.Met235Val)	CCNH, RASA1 (M235V +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
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 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 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 854888	NM_002890.3(RASA1):c.566C>T (p.Thr189Met)	CCNH, RASA1 (T12M +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GUncertain significance
Select item 838893	NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter)	CCNH, RASA1 (W174* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation 1 +1 more	GPathogenic
Select item 697010	NM_002890.3(RASA1):c.2286C>T (p.His762=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation 1 +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 1 +2 more	GBenign/Likely benign
Select item 655225	NC_000005.10:g.(?_87268442)_(87353245_?)del	LOC644285, CCNH +1 more	Deletion	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 618857	NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)	RASA1 (G22C)	Single nucleotide variant (missense variant)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 582697	NM_002890.3(RASA1):c.2866_2867del (p.Val956fs)	CCNH, RASA1 (V779fs +1 more)	Microsatellite (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 581560	NM_002890.3(RASA1):c.1760A>G (p.Asn587Ser)	CCNH, RASA1 (N587S +1 more)	Single nucleotide variant (missense variant +1 more)	Capillary malformation-arteriovenous malformation 1	GUncertain significance
Select item 565648	NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)	CCNH, RASA1 (R749* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 533449	NM_002890.3(RASA1):c.2603+1G>A	CCNH, RASA1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic
Select item 523621	NM_002890.3(RASA1):c.1024dup (p.Glu342fs)	CCNH, RASA1 (E165fs +1 more)	Duplication (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 464870	NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)	CCNH, RASA1 (S219* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +2 more	GPathogenic
Select item 464866	NM_002890.3(RASA1):c.3109_3112del (p.Gln1037fs)	CCNH, RASA1 (Q860fs +1 more)	Deletion (frameshift variant +3 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GConflicting classifications of pathogenicity
Select item 464864	NM_002890.3(RASA1):c.2873del (p.Pro958fs)	CCNH, RASA1 (P958fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 464861	NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter)	CCNH, RASA1 (R903* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 464852	NM_002890.3(RASA1):c.162G>C (p.Glu54Asp)	RASA1 (E54D)	Single nucleotide variant (missense variant)	RASA1-related condition +3 more	GBenign/Likely benign
Select item 464851	NC_000005.10:g.(?_87268432)_(87353255_?)del	CCNH, LOC644285 +1 more	Deletion	Capillary malformation-arteriovenous malformation 1	GPathogenic
Select item 440234	NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter)	CCNH, RASA1 (R502* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 411714	NM_002890.3(RASA1):c.613_617del (p.Leu205fs)	CCNH, RASA1 (L205fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1 +2 more	GPathogenic
Select item 411713	NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)	CCNH, RASA1 (Q1019* +1 more)	Single nucleotide variant (nonsense +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GPathogenic/Likely pathogenic
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 354544	NM_002890.3(RASA1):c.*852A>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 354536	NM_002890.3(RASA1):c.*424G>T	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Capillary malformation-arteriovenous malformation 1 +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)	Parkes Weber syndrome +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 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 354532	NM_002890.3(RASA1):c.*97A>G	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 354531	NM_002890.3(RASA1):c.*16T>C	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GConflicting classifications of pathogenicity
Select item 354530	NM_002890.3(RASA1):c.*9G>A	CCNH, RASA1	Single nucleotide variant (3 prime UTR variant +2 more)	Parkes Weber syndrome +1 more	GUncertain significance
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 354528	NM_002890.3(RASA1):c.2926-14C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	Capillary malformation-arteriovenous malformation 1 +2 more	GConflicting classifications of pathogenicity
Select item 354527	NM_002890.3(RASA1):c.2691-11C>T	CCNH, RASA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 354525	NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)	CCNH, RASA1 (P868L +1 more)	Single nucleotide variant (missense variant +1 more)	Parkes Weber syndrome +3 more	GConflicting classifications of pathogenicity
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 354523	NM_002890.3(RASA1):c.2259C>T (p.Ala753=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Parkes Weber syndrome +3 more	GBenign/Likely benign
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 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 354520	NM_002890.3(RASA1):c.1777-15_1777-14insA	CCNH, RASA1	Insertion (intron variant)	Capillary malformation-arteriovenous malformation syndrome +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 354518	NM_002890.3(RASA1):c.1494G>A (p.Glu498=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 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)	not provided +4 more	GBenign/Likely benign
Select item 354516	NM_002890.3(RASA1):c.1371G>A (p.Lys457=)	CCNH, RASA1	Single nucleotide variant (synonymous variant +1 more)	Capillary malformation-arteriovenous malformation syndrome +6 more	GBenign/Likely benign

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