RASA1 Database

• Reference sequences were NC_000005.9 and NM_002890.1. cDNA number 1 is the "A" of the start codon.
• Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
• Click any Column Header to sort the display. Mouse over Comments icon for additional details.
• "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
• Disease abbreviations - Arteriovenous Fistula (AVF), Arteriovenous Malformation (AVM), Capillary Malformation (CM), and Parkes-Weber syndrome (PKWS).

184 variants found

Genomic Position	Location	Mutation Type	Nucleotide Change	Protein Change	Classification	Phenotype	References	Comments
85938734	Exon 1 (5'UTR)	Large deletion	5’UTR-EX1del		Pathogenic	AVM	Wooderchak-Donahue (2018)
86469478	Exon 1 (5'UTR)	Large deletion	5’UTR-EX1del		Pathogenic	CM	Wooderchak-Donahue (2018)
86564163	Exon 1 (5'UTR)	Regulatory	c.-106_-105delinsTT		Suspected benign		Wooderchak-Donahue (2018)
86564476	Exon 1	Missense	c.208G>C	p.Glu70Gln	VUS	Suspected HHT	Wooderchak-Donahue (2018)
86564477	Exon 1	Missense	c.209A>G	p.Glu70Gly	Benign		Wooderchak-Donahue (2018)
86564529	Exon 1	Deletion	c.261_262del	p.Gly89Argfs*22	Pathogenic	Suspected HHT	Wooderchak-Donahue (2018)
86564529	Exon 1	Deletion	c.261del	p.Gly89Glufs*7	Pathogenic	CM, AVM	Saliou (2017)
86564564	Exon 1	Missense	c.296C>T	p.Ala99Val	Benign	CM	Wooderchak-Donahue (2012) ARUP Laboratories
86564614	Exon 1	Missense	c.346C>G	p.Leu116Val	Pending classification		Maruani (2017)
86564628	Exon 1	Silent	c.360C>A	p.Pro120Pro	Suspected benign		Wooderchak-Donahue (2018)
86564633	Exon 1	Nonsense	c.365C>A	p.Ser122*	Pathogenic	CM	Revencu (2013)
86564651	Exon 1	Deletion	c.383_384del	p.Leu128Argfs*29	Pathogenic	CM, AVM	Saliou (2017)
86564677	Exon 1	Duplication	c.409dup	p.Leu137Profs*21	Pathogenic	CM, AVM	Revencu (2013)
86564710	Exon 1	Indel	c.442_443delinsT	p.Ala148Trpfs*26	Pathogenic	CM	Revencu (2013)
86564731	Exon 1	Nonsense	c.463G>T	p.Glu155*	Pathogenic	CM	Revencu (2013)
86564735	Exon 1	Missense	c.467G>T	p.Gly156Val	VUS	AVM	Wooderchak-Donahue (2018)
86564743	Exon 1	Deletion	c.475_476del	p.Leu159fs	Pathogenic	CM, AVM, PKWS	Eerola (2003) ARUP Laboratories
86564760	Exon 1	Nonsense	c.492C>G	p.Tyr164*	Pathogenic	CM, AVM	Revencu (2013)
86564780	Exon 1	Deletion	c.512del	p.Ile171fs	Pathogenic	CM, AVM	Eerola (2003)
86564808	Intron 1	Splice Site	c.539+1G>A		Pathogenic	CM	Maruani (2017)
86627138	Intron 1	Intronic	c.540-27G>A		Benign		Wooderchak-Donahue (2018)
86627165	Exon 2-9	Large deletion	EX2-9del		Pathogenic	CM	Wooderchak-Donahue (2018)
86627181	Exon 2	Deletion	c.556_562del	p.Leu186Glufs*3	Pathogenic	CM, AVF	Saliou (2017)
86627236	Exon 2	Duplication	c.611dup	p.Tyr204*	Pathogenic	CM	Wooderchak-Donahue (2018)
86627238	Exon 2	Deletion	c.613_617del	p.Leu205fs	Pathogenic	CM	Revencu (2008) ARUP Laboratories
86627281	Exon 2	Nonsense	c.656C>G	p.Ser219*	Pathogenic	CM	Revencu (2008)
86628365	Exon 3	Indel	c.734_737delinsAAA	p.Arg245fs	Pathogenic	CM	Wijn (2012)
86628437	Exon 3	Deletion	c.806_810del	p.Leu269fs	Pathogenic	CM, PKWS	Revencu (2008)
86628462	Intron 3	Splice Site	c.828+3A>T		Pathogenic	CM, AVM/AVF	Revencu (2008) ARUP Laboratories
86628462	Intron 3	Splice Site	c.828+3A>T		Pathogenic	CM	Wooderchak-Donahue (2018)
86629072	Intron 3	Intronic	c.829-12del		Benign		ARUP Laboratories
86629075	Intron 3	Splice Site	c.829-9G>A		Pending classification	CM	Hershkovitz (2008)
86629083	Intron 3	Splice Site	c.829-1G>A		Pathogenic	CM, AVM	Revencu (2013)
86629108	Exon 4	Nonsense	c.853C>T	p.Arg285*	Pathogenic	CM	Hershkovitz (2008) ARUP Laboratories
86629155	Intron 4	Splice Site	c.899+1G>T		Pathogenic	CM, AVM	Revencu (2013)
86633842	Exon 5	Duplication	c.951dupG	p.Met318fs	Pathogenic	CM	Revencu (2008)
86633848	Exon 5	Nonsense	c.957G>A	p.Trp319*	Pathogenic	CM, PKWS	Revencu (2008)
86633909	Intron 5	Splice Site	c.1017+1G>T		Pathogenic	CM, PKWS	Revencu (2008)
86633973	Intron 5	Intronic	c.1017+65G>A		Benign		ARUP Laboratories
86642502	Exon 7	Nonsense	c.1063A>T	p.Lys355*	Pathogenic	CM, AVM	Lapinski (2018)
86642543	Intron 7	Splice Site	c.1102+2T>C		Pathogenic	CM, AVM	Saliou (2017)
86642551	Intron 7	Intronic	c.1102+10T>C		Suspected benign		Wooderchak-Donahue (2018)
86645029	Intron 7	Splice Site	c.1103-2A>G		Pathogenic	CM, T	Wooderchak-Donahue (2018)
86645120	Exon 8	Nonsense	c.1192C>T	p.Arg398*	Pathogenic	CM, AVM/AVF	Revencu (2008)
86645136	Exon 8	Duplication	c.1208dupC	p.Thr404fs	Pathogenic	CM, AVM/AVF	Revencu (2008)
86645148	Exon 8	Deletion	c.1220_1223del	p.Asn407Serfs*3	Pathogenic	CM	Revencu (2013) Wooderchak-Donahue (2018)
86645176	Exon 8	Nonsense	c.1248T>G	p.Tyr416*	Pathogenic	CM	Macmurdo (2016)
86648989	Exon 9	Insertion	c.1268_1269dup	p.Asp424*	Pathogenic	CM, AVM	Lapinski (2018)
86648997	Exon 9	Missense	c.1277A>G	p.Tyr426Cys	Pending classification	CM	Revencu (2008)
86648999	Exon 9	Nonsense	c.1279C>T	p.Arg427*	Pathogenic	CM, AVM/AVF	Revencu (2008) ARUP Laboratories
86649010	Exon 9	Deletion	c.1290_1291del	p.Gln430Hisfs*3	Pathogenic	CM, PKWS	Revencu (2013)
86649030	Exon 9	Missense	c.1310T>G	p.Leu437Arg	VUS	CM	Wooderchak-Donahue (2012) ARUP Laboratories
86649057	Intron 9	Splice Site	c.1332+5G>A		Pending classification	CM	Revencu (2008)
86649058	Intron 9	Splice Site	c.1332+6T>G		VUS		Wooderchak-Donahue (2018)
86658371	Exon 10	Nonsense	c.1336C>T	p.Gln446*	Pathogenic	CM, PKWS, AVM	Eerola (2003) Revencu (2008)
86658377	Exon 10	Nonsense	c.1342C>T	p.Gln448*	Pathogenic	CM, AVM	Revencu (2013)
86658378	Exon 10	Indel	c.1343_1346delinsCATG	p.Gln448fs	Pathogenic	CM	Hershkovitz (2008b)
86658385	Exon 10	Insertion	c.1350_1351insT	p.Asn451*	Pathogenic	CM, PKWS	Revencu (2008)
86658387	Exon 10	Missense	c.1352A>G	p.Asn451Ser	Pending classification		Maruani (2017)
86658397	Exon 10	Insertion	c.1362_1363insTCAGT	p.Asp455fs	Pathogenic	CM	Revencu (2008)
86658419	Exon 10	Deletion	c.1384_1388del	p.Thr462Profs*3	Pathogenic	CM	Revencu (2013)
86658421	Exon 10	Insertion	c.1386_1387insCT	p.Ile463fs	Pathogenic	CM, AVM	Thiex (2010)
86658437	Exon 10	Deletion	c.1402_1403del	p.Lys468fs	Pathogenic	CM, AVM	Wooderchak-Donahue (2012) ARUP Laboratories
86658475	Exon 10	Nonsense	c.1440T>G	p.Tyr480*	Pathogenic	CM	Revencu (2013)
86658489	Intron 10	Splice Site	c.1453+1del		Pathogenic	CM, AVF	Thiex (2010)
86659158	Intron 10	Intronic	c.1454-7delT		Benign		Wooderchak-Donahue (2018)
86659166	Exon 11	Deletion	c.1455del	p.Gly487Glufs*11	Pathogenic	CM, AVM	Saliou (2017)
86659191	Exon 11	Duplication	c.1480dup	p.Tyr494fs	Pathogenic	CM, PKWS	Revencu (2008)
86659201	Exon 11	Nonsense	c.1490T>G	p.Leu497*	Pathogenic	CM, AVM/AVF	Revencu (2008)
86659204	Exon 11	Deletion	c.1493_1494del	p.Glu498fs	Pathogenic	CM	Wooderchak-Donahue (2012) ARUP Laboratories
86659205	Exon 11	Duplication	c.1495_1496dup	p.Ser500Valfs*21	Pathogenic	CM	Revencu (2013)
86659218	Exon 11	Nonsense	c.1507C>T	p.Gln503*	Pathogenic	CM, AVM	Boyden (2012)
86659220	Exon 11	Deletion	c.1509del	p.Gln503Hisfs*17	Pathogenic	CM, AVM	Saliou (2017)
86659224	Exon 11	Insertion	c.1513_1514insAA	p.Ile505Lysfs*16	Pathogenic	CM, AVM	Wooderchak-Donahue (2018)
86659228	Exon 11	Insertion	c.1517_1518dup	p.Phe507Ilefs*14	Pathogenic	CM	Wooderchak-Donahue (2018)
86659228	Exon 11	Deletion	c.1517_1520del	p.Tyr506Leufs*13	Pathogenic	CM, PKWS	Revencu (2013)
86659245	Exon 11	Nonsense	c.1534C>T	p.Arg512*	Pathogenic	CM, AVM	Revencu (2013) Wooderchak-Donahue (2018)
86659278	Exon 11	Deletion	c.1567_1568del	p.Ser523Cysfs*9	Pathogenic	AVF	Saliou (2017)
86659283	Exon 11	Duplication	c.1572_1575dup	p.Ser526fs	Pathogenic	CM, PKWS	Revencu (2008)
86659290	Exon 11	Deletion	c.1579_1582delGTCT	p.Val527fs	Pathogenic	CM, AVM	Eerola (2003) ARUP Laboratories
86659294	Exon 11	Missense	c.1583A>G	p.Tyr528Cys	Benign		Wooderchak-Donahue (2018)
86659300	Exon 11	Missense	c.1589T>A	p.Val530Asp	Pending classification	CM, AVM	Revencu (2013)
86659305	Exon 11	Duplication	c.1594dup	p.Asp532Glyfs*2	Pathogenic	AVM	Saliou (2017)
86659307	Exon 11	Deletion	c.1596 1597del	p.Asp532Glufs*17	Pathogenic	CM, AVM	Revencu (2013)
86665625	Intron 11	Splice Site	c.1611-7delT		Benign		ARUP Laboratories
86665636	Exon 12	Duplication	c.1616dup	p.Asn539fs	Pathogenic	CM	Wooderchak-Donahue (2012) ARUP Laboratories
86665638	Exon 12	Missense	c.1619G>A	p.Cys540Tyr	Pending classification	CM, AVF	Eerola (2003)
86665655	Exon 12	Nonsense	c.1636C>T	p.Gln546*	Pathogenic	CM, AVM/AVF	Revencu (2008)
86665668	Exon 12	Missense	c.1649A>T	p.Glu550Val	VUS	CM	Wooderchak-Donahue (2018)
86665685	Exon 12	Splice Site	c.1666_1698+15del		Pathogenic	CM, AVM	Thiex (2010)
86665702	Exon 12	Duplication	c.1682_1683dup	p.Pro562fs	Pathogenic	CM, AVM/AVF	Revencu (2008)
86665718	Intron 12	Splice Site	c.1698+1G>T		Pathogenic	CM	Revencu (2013)
86665719	Intron 12	Splice Site	c.1698+2dup		Pathogenic	CM, AVM	Wooderchak-Donahue (2018) Overcash (2015)
86665720	Intron 12	Splice Site	c.1698+3_1698+4insT		Pending classification	CM, PKWS	Revencu (2008)
86667939	Exon 13	Nonsense	c.1703G>A	p.Trp568*	Pathogenic	CM, AVM	Lapinski (2018)
86667953	Exon 13	Nonsense	c.1717C>T	p.Gln573*	Pathogenic	CM, AVM	Thiex (2010)
86667962	Exon 13	Duplication	c.1726dup	p.Cys576Leufs*7	Pathogenic	CM, AVM	Revencu (2013)
86668007	Exon 13	Duplication	c.1771dup	p.Arg591fs	Pathogenic	CM	Wooderchak-Donahue (2012) ARUP Laboratories
86669867	Intron 13	Intronic	c.1777-113G>A		Benign		Wooderchak-Donahue (2018)
86670037	Exon 14	Missense	c.1834A>G	p.Thr612Ala	VUS	Suspected HHT	Wooderchak-Donahue (2018)
86670073	Exon 14	Nonsense	c.1870C>T	p.Gln624*	Pathogenic	CM, AVM/AVF	Revencu (2008) ARUP Laboratories
86670080	Exon 14	Missense	c.1877C>A	p.Ala626Glu	Pending classification	CM	Revencu (2013)
86670706	Exon 15	Deletion	c.1984_1988del	p.Thr662Glufs*6	Pathogenic	CM	Wooderchak-Donahue (2018)
86670711	Exon 15	Deletion	c.1989 1992del	p.Lys664Alafs*13	Pathogenic	CM, AVM	Revencu (2013)
86670734	Intron 15	Splice Site	c.2011+1G>C		Pathogenic	CM	Wooderchak-Donahue (2018)
86670789	Intron 15	Intronic	c.2011+56A>G		Benign		Wooderchak-Donahue (2018)
86672210	Exon 16-20	Large deletion	EX16-20del		Pathogenic	CM	Wooderchak-Donahue (2018)
86672224	Exon 16	Nonsense	c.2026C>T	p.Gln676*	Pathogenic	CM	Revencu (2008) ARUP Laboratories
86672233	Exon 16	Nonsense	c.2035C>T	p.Arg679*	Pathogenic	CM, AVM, PKWS	Revencu (2013) Wooderchak-Donahue (2018)
86672264	Exon 16	Nonsense	c.2066G>A	p.Trp689*	Pathogenic	CM	Wooderchak-Donahue (2018)
86672282	Exon 16	Missense	c.2084A>T	p.His695Leu	VUS	CM, AVM/AVF	Wooderchak-Donahue (2012) ARUP Laboratories
86672317	Exon 16	Missense	c.2119C>T	p.Arg707Cys	Pending classification	CM, AVM	Kwong (2015)
86672323	Exon 16	Nonsense	c.2125C>T	p.Arg709*	Pathogenic	CM, AVM/AVF, PKWS	Revencu (2008)
86672329	Exon 16	Nonsense	c.2131C>T	p.Arg711*	Pathogenic	CM, AVF	Revencu (2013) Wooderchak-Donahue (2018)
86672353	Exon 16	Indel	c.2155_2156delinsTA	p.Pro719*	Pathogenic		Wooderchak-Donahue (2018)
86672383	Intron 16	Splice Site	c.2184+1del		Pathogenic	CM, PKWS	Revencu (2008)
86672696	Intron 16	Splice Site	c.2185-2A>C		Pathogenic	CM	Wooderchak-Donahue (2018)
86672697	Intron 16	Splice Site	c.2185-1G>A		Pathogenic	CM	Revencu (2008)
86672722	Exon 17	Missense	c.2209G>A	p.Val737Ile	VUS	CM	Wooderchak-Donahue (2018)
86672738	Exon 17	Nonsense	c.2225C>A	p.Ser742*	Pathogenic	CM, AVM	Wooderchak-Donahue (2012) ARUP Laboratories
86672752	Exon 17	Nonsense	c.2239C>T	p.Gln747*	Pathogenic	CM, AVM	Wooderchak-Donahue (2012) ARUP Laboratories
86672758	Exon 17	Nonsense	c.2245C>T	p.Arg749*	Pathogenic	CM	Revencu (2013) Wooderchak-Donahue (2018)
86672765	Exon 17	Duplication	c.2252_2255dup	p.Ala753fs	Pathogenic	CM	Hershkovitz (2008)
86672782	Exon 17	Nonsense	c.2269del	p.Leu757*	Pathogenic	AVM/AVF, PKWS	Wooderchak-Donahue (2018)
86672801	Exon 17	Missense	c.2288A>T	p.Glu763Val	Pending classification	CM, AVM/AVF	Revencu (2008)
86672820	Exon 17	Silent	c.2307G>A	p.Leu769Leu	Suspected benign		Wooderchak-Donahue (2018)
86672823	Exon 17	Duplication	c.2310dup	p.Cys771Metfs*5	Pathogenic	CM	Wooderchak-Donahue (2018)
86672842	Exon 17	Nonsense	c.2329G>T	p.Glu777*	Pathogenic	CM, AVF	Thiex (2010)
86672849	Exon 17	Deletion	c.2336_2337del	p.Ser779fs	Pathogenic	CM, AVM	Eerola (2003)
86672854	Exon 17	Nonsense	c.2341G>T	p.Glu781*	Pathogenic	CM, AVM/AVF	Revencu (2008)
86672858	Intron 17	Splice Site	c.2344+1G>A		Pathogenic	CM	Wooderchak-Donahue (2018)
86672858	Intron 17	Splice Site	c.2344+1G>C		Pathogenic	CM, AVM	Revencu (2013)
86674233	Exon 18	Nonsense	c.2365C>T	p.Arg789*	Pathogenic	CM, AVM/AVF	Revencu (2008) ARUP Laboratories
86674290	Exon 18	Nonsense	c.2422C>T	p.Gln808*	Pathogenic	CM, PKWS	Revencu (2008)
86674309	Exon 18	Nonsense	c.2441del	p.Leu814*	Pathogenic	CM, AVM	Palmyre (2017) Saliou (2017)
86674318	Exon 18	Deletion	c.2450_2451del	p.Ser817fs	Pathogenic	CM, AVM/AVF	Revencu (2008)
86674319	Exon 18	Duplication	c.2451dup	p.Ile818Tyrfs*12	Pathogenic	CM	Wooderchak-Donahue (2018)
86674325	Exon 18	Indel	c.2457_2460delinsT	p.Leu819_Lys820delinsPhe	Pathogenic	CM, AVM	Revencu (2013)
86674335	Exon 18	Duplication	c.2467dup	p.Glu823Glyfs*7	Pathogenic	CM	Whitaker (2016)
86675450	Intron 18	Intronic	c.2488-102G>A		Benign		ARUP Laboratories
86675511	Intron 18	Intronic	c.2488-41A>C		Benign		ARUP Laboratories
86675550	Intron 18	Splice Site	c.2488-2A>G		Pathogenic	CM	Revencu (2008)
86675551	Intron 18	Splice Site	c.2488-1_2490del		Pathogenic	CM, AVM/AVF	Revencu (2008)
86675564	Exon 19	Deletion	c.2500_2501del	p.Lys834Valfs*5	Pathogenic	CM	Revencu (2013)
86675577	Exon 19	Duplication	c.2513dup	p.Asn838Lysfs*2	Pathogenic	AVM	Saliou (2017)
86675578	Exon 19	Insertion	c.2514_2515insA	p.Glu839fs	Pathogenic	CM	Revencu (2008)
86675596	Exon 19	Deletion	c.2532_2536del	p.Leu845fs	Pathogenic	CM, AVM/AVF	Revencu (2008)
86675643	Exon 19	Deletion	c.2579_2582del	p.Phe860fs	Pathogenic	CM, AVM/AVF	Revencu (2008)
86675662	Exon 19	Duplication	c.2598dup	p.Pro867Serfs*18	Pathogenic	CM	Wooderchak-Donahue (2018)
86675668	Intron 19	Splice Site	c.2603+1G>A		Pathogenic	CM, AVM	Revencu (2008) ARUP Laboratories
86675669	Intron 19	Splice Site	c.2603+2dup		Pathogenic	CM	Revencu (2008) ARUP Laboratories
86675671	Intron 19	Splice Site	c.2603+4dup		Pending classification	CM	Revencu (2008)
86675671	Intron 19	Splice Site	c.2603+4del		Pathogenic	CM, AVM	Wooderchak-Donahue (2018)
86675672	Intron 19	Splice Site	c.2603+5G>T		Pending classification	CM, PKWS	Revencu (2008)
86675672	Intron 19	Splice Site	c.2603+5G>C		Pathogenic	CM	Buhl (2012)
86675852	Intron 19	Intronic	c.2603+185T>C		Benign		Wooderchak-Donahue (2018)
86676204	Intron 19	Intronic	c.2604-122T>C		Benign		ARUP Laboratories
86676324	Intron 19	Splice Site	c.2604-2A>C		Pathogenic	CM	Wooderchak-Donahue (2018)
86676325	Intron 19	Splice Site	c.2604-1_2605del		Pathogenic	CM	Wooderchak-Donahue (2018)
86676326	Exon 20	Splice Site	c.2604G>T	p.Pro868Pro	Pathogenic	CM, AVM/AVF	Wooderchak-Donahue (2018)
86676330	Exon 20	Silent	c.2608T>C	p.Leu870Leu	Benign		Wooderchak-Donahue (2018)
86676354	Exon 20	Nonsense	c.2632C>T	p.Gln878*	Pathogenic	CM, PKWS	Revencu (2013)
86679516	Intron 20	Intronic	c.2691-14del		Benign		ARUP Laboratories
86679519	Intron 20	Intronic	c.2691-11C>T		Suspected benign		Wooderchak-Donahue (2018)
86679530	Exon 21-25	Large deletion	EX21-25del		Pathogenic	AVM	Wooderchak-Donahue (2018)
86679537	Exon 21	Deletion	c.2698_2701del	p.Val900Phefs*10	Pathogenic	CM, AVF	Wooderchak-Donahue (2018)
86679542	Exon 21	Deletion	c.2703del	p.Leu902Phefs*9	Pathogenic	CM, AVM	Saliou (2017)
86679546	Exon 21	Nonsense	c.2707C>T	p.Arg903*	Pathogenic	CM, AVM	Revencu (2013) Wooderchak-Donahue (2018)
86682617	Intron 22	Intronic	c.2848-26T>C		Benign		Wooderchak-Donahue (2018)
86682721	Intron 23	Splice Site	c.2925+1G>T		Pathogenic		Wooderchak-Donahue (2018)
86682721	Intron 23	Splice Site	c.2925+1del		Pathogenic	CM	Wooderchak-Donahue (2018)
86682725	Intron 23	Splice Site	c.2925+5G>C		Pathogenic	CM, AVM	Revencu (2013)
86685211	Exon 24	Deletion	c.2927del	p.Asn976Metfs*20	Pathogenic	CM	Durrington (2013)
86685261	Exon 24	Deletion	c.2977del	p.Arg993Valfs*3	Pathogenic	CM, AVM, PKWS	Revencu (2013)
86685308	Exon 24	Deletion	c.3024del	p.Glu1008Aspfs*16	Pathogenic	CM, AVM	Revencu (2013)
86685312	Exon 24	Nonsense	c.3028C>T	p.Arg1010*	Pathogenic	CM, AVM	Revencu (2008) Wooderchak-Donahue (2018)
86685322	Exon 24	Deletion	c.3038_3054del	p.Ser1013Thrfs*27	Pathogenic	CM	Revencu (2013)
86685327	Exon 24	Nonsense	c.3043G>T	p.Glu1015*	Pathogenic	Suspected HHT	Hernandez (2015)
86685336	Exon 24	Deletion	c.3052delG	p.Ala1018fs	Pathogenic	CM	Revencu (2008)
86685339	Exon 24	Nonsense	c.3055C>T	p.Gln1019*	Pathogenic	CM	Revencu (2013)
86685345	Intron 24	Splice Site	c.3060+1dup		Pathogenic	Suspected HHT	Wooderchak-Donahue (2018)
86685365	Intron 24	Intronic	c.3060+21A>G		Benign	CM	Wooderchak-Donahue (2012) ARUP Laboratories
86686623	Exon 25	Silent	c.3067T>C	p.Leu1023Leu	Pending classification		Haga (2002)
86686665	Exon 25	Deletion	c.3109_3112del	p.Gln1037Thrfs*63	Pathogenic	CM, AVM	Revencu (2013)
86686797	3'UTR	Regulatory	c.*97A>G		Benign	CM	Wooderchak-Donahue (2012) ARUP Laboratories