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ENG Database

Reference sequences were NC_000009.10 and NM_001114753.1. cDNA #1 is the "A" of the start codon.
Frameshift is noted by original amino acid and codon number followed by "fs" (ex. Leu159fs).
Click any Column Header to sort the display. See Comments for additional variant information.
"Live Search" any term in the search box, such as "exon" , "missense", "benign" , "2010" , etc...
Clinical features/diagnostic criteria are: epistaxis (E), telangiectasia oral/dermal (T), pulmonary AVM (P), cerebral AVM (C), hepatic involvement (H), GI telangiectasia (G) and family history (F).

Click for a detailed description of Classification

510 variants found

( *Independent Observations )

Genomic Position	Location ▾	Mutation Type	Nucleotide Change	Protein Change	Classification	Ind * Obs	References	Comments
130578006	Exon 15	Silent	c.1932C>T	p. Ile644Ile	Benign	12	Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130578180	Intron 14	Splice Site	c.1852+42C>T		Pending classification	1	Plumitallo (2018)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130578106	Intron 14	Deletion	c.1853-21_1853-26del		Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: 6bp del - Unknown significance. Not predicted to affect splicing. (Edinburgh)
130578230	Exon 14	Missense	c.1844C>T	p.Ser615Leu	Benign	6	Kuehl (2005) Bossler (2006) Gedge (2007) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated. Seen in one patient with c.659_660TC>AT in Gedge (2007)
130578263	Exon 14	Missense	c.1811C>A	p.Ala604Asp	Pending classification	2	Bossler (2006) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: PolyPhen2 possibly damaging 0.889. (Edinburgh)
130578280	Exon 14	Silent	c.1794T>G	p.Gly598Gly	Benign	1	Abdalla (2005) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130578280	Exon 14	Silent	c.1794T>C	p.Gly598Gly	Benign	8	ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: Patient also has mutation in exon 6. (Edinburgh)
130578312	Exon 14	Missense	c.1762G>T	p.Val588Phe	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130578312	Exon 14	Missense	c.1762G>A	p.Val588Ile	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Predicted to be tolerated. (Edinburgh)
130578332	Exon 14-15	Large Deletion	EX14-15del		Pathogenic	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: c.1742-?_1977+?del
130578363	Intron 13	Intronic	c.1742-31T>C		Benign	1	Gedge (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130578380	Intron 13	Splice Site	c.1742-48_1743del		Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130578404	Intron 13	Intronic	c.1742-72T>C		Benign	3	ARUP Laboratories Submitted by Edinburgh Laboratories 2013 Smoot (2009)	Clinical Features: E T H P Co-segregation: mRNA study: Functional study: Comments: patient also had has deletion by MLPA for this exon
130579349	Intron 13	Intronic	c.1741+79G>A		Benign	1	ARUP Laboratories	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130579393	Intron 13	Intronic	c.1741+35G>A		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579431	Exon 13	Duplication	c.1738_1741dup	p.Gly581Valfs*171	Pathogenic	1	Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579436	Exon 13	Deletion	c.1733_1737del	p.Asp578Valfs*171	Pathogenic	1	Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579439	Exon 13	Deletion	c.1730_1731del	p.Pro577Argfs*173	Pathogenic	2	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130579443	Exon 13	Missense	c.1726A>G	p.Ser576Gly	Benign	2	ARUP Laboratories McDonald (2009)	Clinical Features: E T F Co-segregation: Unaffected father mRNA study: Functional study: Comments:
130579445	Exon 13	Missense	c.1724T>C	p.Ile575Thr	Pending classification	2	Lastella (2003) Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579448	Exon 13	Missense	c.1721T>C	p.Ile574Thr	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579454	Exon 13	Nonsense	c.1715T>A	p.Leu572*	Pathogenic	1	Paquet (2001) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579457	Exon 13	Missense	c.1712G>A	p.Arg571His	Suspected Benign	8	ARUP Laboratories McDonald (2009)	Clinical Features: E T P F Co-segregation: Unaffected grandparent and sib with recurrent epistaxis Affected father and sibling mRNA study: add refere for multipl mutation paper Functional study: Comments:
130579457	Exon 13	Deletion	c.1712del	p.Arg571Profs*2	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579462	Exon 13	Deletion	c.1707del	p.Phe569Leufs*4	Pathogenic	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130579471	Exon 13	Deletion	c.1698del	p.Thr567Leufs*6	Pathogenic	2	Bossler (2006) Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579480	Exon 13	Deletion	c.1689_1699del	p.Glu563Aspfs*12	Pathogenic	1	Cymerman (2000) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579482	Exon 13	Nonsense	c.1687G>T	p.Glu563*	Pathogenic	1	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130579482	Exon 13	Deletion	c.1687del	p.Glu563Lysfs*10	Pathogenic	2	Bossler (2006) ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130579482	Exon 13	Large Duplication	EX13dup		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: c.1687-?_1741+?dup
130579484	Intron 12	Splice Site	c.1687-2A>G		Pathogenic	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130579489	Intron 12	Splice Site	c.1687-7C>T		Benign	1	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580300	Intron 12	Intronic	c.1686+99T>A		Benign	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130580393	Intron 12	Splice Site	c.1686+6T>G		Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Not predicted to affect splicing. (Edinburgh)
130580394	Intron 12	Splice Site	c.1686+5G>C		Pending classification	4	Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580397	Intron 12	Splice Site	c.1686+2T>C		Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580398	Intron 12	Splice Site	c.1686+1insTCTG		Pathogenic	1	IMPACT Genetics	Clinical Features: P, E, T, G Co-segregation: mRNA study: Functional study: Comments:
130580398	Intron 12	Splice Site	c.1686+1del		Pathogenic	2	Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580401	Exon 12	Nonsense	c.1684C>T	p.Gln562*	Pathogenic	2	Letteboer (2005) Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580407	Exon 12	Nonsense	c.1678C>T	p.Gln560*	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580413	Exon 12	Duplication	c.1672_1684dup	p.Gln562Argfs*9	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580413	Exon 12	Deletion	c.1672_1684del	p.Gly558Argfs*11	Pathogenic	1	Paquet (2001)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580414	Exon 12	Silent	c.1671C>T	p.Thr557Thr	Benign	2	ARUP Laboratories	Clinical Features: E T G Co-segregation: mRNA study: Functional study: Comments:
130580424	Exon 12	Duplication	c.1661_1664dup	p.Lys556Serfs*12	Pathogenic	1	Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580428	Exon 12	Deletion	c.1657del	p.Leu553Cysfs*20	Pathogenic	4	McAllister (1995) Gallione (1998) McAllister (1995) ARUP Laboratories	Clinical Features: E T G P F Co-segregation: mRNA study: Functional study: Comments:
130580439	Exon 12	Missense	c.1646G>A	p.Cys549Tyr	Pathogenic	2	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580445	Exon 12	Missense	c.1640T>G	p.Leu547Arg	Pathogenic	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130580445	Exon 12	Missense	c.1640T>C	p.Leu547Pro	Pending classification	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580451	Exon 12	Missense	c.1634G>A	p.Gly545Asp	Uncertain	2	Argyriou(2006) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: Assumed mutation. Shows segregation with disease.
130580452	Exon 12	Missense	c.1633G>A	p.Gly545Ser	Benign	2	Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Highly conserved. SNP rs142896669 freq. 0.002. (Edinburgh)
130580455	Exon 12	Deletion	c.1630del	p.Thr544Profs*8	Pathogenic	1	Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580460	Exon 12	Duplication	c.1625_1626dup	p.Lys543Profs*10	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580462	Exon 12	Duplication	c.1623_1624dup	p.Pro542Hisfs*11	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580474	Exon 12	Nonsense	c.1611C>A	p.Tyr537*	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580476	Exon 12	Deletion	c.1609del	p.Tyr537Thrfs*15	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580490	Exon 12	Missense	c.1595T>C	p.Phe532Ser	Uncertain	2	Gedge (2007) ARUP Laboratories	Clinical Features: T P F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated
130580499	Exon 12	Missense	c.1586G>A	p.Arg529His	Pathogenic	3	Bossler (2006) Gedge (2007) Nishida (2012) ARUP Laboratories	Clinical Features: P F Co-segregation: mRNA study: Functional study: Comments:
130580500	Exon 12	Missense	c.1585C>T	p.Arg529Cys	Uncertain	1	ARUP Laboratories	Clinical Features: P Co-segregation: mRNA study: Functional study: Comments:
130580502	Exon 12	Duplication	c.1583dup	p.Arg529Alafs*38	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580503	Exon 12	Deletion	c.1582_1583del	p.Pro528Alafs*38	Pathogenic	3	Submitted by Edinburgh Laboratories 2013 Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580531	Exon 12	Deletion	c.1554_1555del	p.Leu519Alafs*8	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580532	Exon 12	Deletion	c.1553_1554del	p.Ser518Thrfs*9	Pathogenic	2	McAllister (1994) Lastres (1994)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580535	Exon 12	Deletion	c.1550_1551del	p.Val517Glufs*10	Pathogenic	2	McAllister (1995) Olivieri (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580559	Exon 12	Deletion	c.1526del	p.Gly509Alafs*9	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580563	Exon 12	Nonsense	c.1522C>T	p.Gln508*	Pathogenic	1	Lesca (2004) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580572	Exon 12	Nonsense	c.1513G>T	p.Glu505*	Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580575	Exon 12	Missense	c.1510G>A	p.Val504Met	Benign	4	Lesca (2004) Brusgaard (2004) McDonald (2009) Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: E T P F Co-segregation: Seen in unaffected brother of proband, but not in affected nephew and mother (McDonald, 2009). mRNA study: Functional study: Comments: Frequency is 1% in African Americans (5400 exomes, evs.gs.washinton.edu). (Edinburgh)
130580576	Exon 12	Deletion	c.1509del	p.Val504Trpfs*14	Pathogenic	1	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580584	Exon 12	Nonsense	c.1501G>T	p.Gly501*	Pathogenic	2	IMPACT Genetics ARUP Laboratories	Clinical Features: E, T, P, F Co-segregation: mRNA study: Functional study: Comments:
130580589	Exon 12	Duplication	c.1496dup	p.Glu500*	Pathogenic	1	IMPACT Genetics	Clinical Features: E, P, F Co-segregation: mRNA study: Functional study: Comments:
130580605	Exon 12	Deletion	c.1480del	p.His494Thrfs*24	Pathogenic	1	Gedge (2007)	Clinical Features: E T C P Co-segregation: mRNA study: Functional study: Comments:
130580607	Exon 12	Deletion	c.1478del	p.Cys493Serfs*25	Pathogenic	1	Olivieri (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580609	Exon 12	Duplication	c.1476dup	p.Cys493Leufs*8	Pathogenic	1	Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580615	Exon 12	Insertion	c.1470_1471insGGGTG	p.Asp491Glyfs*29	Pathogenic	1	Gedge (2007)	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130580615	Exon 12	Duplication	c.1470dup	p.Asp491Argfs*10	Pathogenic	8	ARUP Laboratories Cymerman (2000) Paquet (2001) Lesca (2004) Abdalla (2005) Bossler (2006) Gedge (2007) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580616	Exon 12	Nonsense	c.1469T>G	p.Leu490*	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580616	Exon 12	Missense	c.1469T>C	p.Leu490Ser	Uncertain	2	Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580620	Exon 12	Deletion	c.1465_1466del	p.Gln489Valfs*11	Pathogenic	1	Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580633	Exon 12	Silent	c.1452C>T	p.Ser484Ser	Benign	3	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580640	Exon 12	Missense	c.1445C>T	p.Ser482Phe	Pending classification	1	Gedge (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Seen in a patient with ENG c.991G>A.
130580651	Exon 12	Deletion	c.1434_1435del	p.Arg478Serfs*22	Pathogenic	3	Gallione (1998) Letteboer (2005) Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580657	Intron 11	Splice Site	c.1429-18_1429-1del		Pathogenic	1	Olivieri (2018 submitted)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580657	Intron 11	Splice Site	c.1429-1G>A		Pathogenic	4	Schulte (2005) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130580665	Intron 11	Splice Site	c.1429-9C>G		Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580993	Intron 11	Splice Site	c.1428+2T>C		Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580993	Intron 11	Splice Site	c.1428+2T>G		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580994	Intron 11	Splice Site	c.1428+1G>A		Pathogenic	6	ARUP Laboratories Nishida (2012)	Clinical Features: E C P F Co-segregation: mRNA study: Functional study: Comments:
130580995	Exon 11	Splice Site	c.1428G>C	p.Gln476His	Pending classification	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Suspected splice site defect.
130580995	Exon 11	Splice Site	c.1428G>A	p.Gln476Gln	Pending classification	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130580997	Exon 11	Missense	c.1426C>A	p.Gln476Lys	Likely Benign		Personal communication with Dr. Pernille Torring (Danish group)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Benign. Found in trans with pathogenic mutation (ENG; c.360+1G>A), didn't segregate with disease. (Pernille Torring).
130581008	Exon 11	Indel	c.1415_1417delinsGT	p.Gln472Argfs*19	Pathogenic	3	Cymerman (2000) Paquet (2001) Gedge (2007) ARUP Laboratories	Clinical Features: E T C P Co-segregation: mRNA study: Functional study: Comments:
130581009	Exon 11	Nonsense	c.1414C>T	p.Gln472*	Pathogenic	4	McAllister (1995) Pece (1997) Bayrak-Toydemir (2006) Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581013	Exon 11	Deletion	c.1410del	p.Gln471Serfs*20	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581016	Exon 11	Silent	c.1407G>A	p.Pro469Pro	Benign	2	Gedge (2007) ARUP Laboratories	Clinical Features: E P F Co-segregation: mRNA study: Functional study: Comments:
130581025	Exon 11	Deletion	c.1398del	p.Ile467Serfs*24	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581027	Exon 11	Missense	c.1396A>C	p.Thr466Pro	Uncertain	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130581031	Exon 11	Duplication	c.1392dup	p.Asn465Glnfs*36	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.1392_1393dupC; p.Asn465fsX500
130581049	Exon 11	Silent	c.1374A>G	p.Pro458Pro	Benign	13	Bossler (2006) Prigoda (2006) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T H P F Co-segregation: mRNA study: Functional study: Comments: No splice change, SNP rs34828244 with freq. 0.004. Seen with suspected pathogenic variant. (Edinburgh)
130581058	Exon 11	Nonsense	c.1365C>T	p.Tyr455Tyr	Pending classification	1	Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581062	Exon 11	Duplication	c.1361dup	p.Tyr455Leufs*46	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581073	Exon 11	Silent	c.1350C>T	p.Phe450Phe	Pending classification	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581076	Exon 11	Deletion	c.1347_1350del	p.Phe450Serfs*40	Pathogenic	4	Cymerman (2003) Bossler (2006) Nishida (2012)	Clinical Features: Co-segregation: 4 individuals mRNA study: Functional study: Comments:
130581077	Exon 11	Duplication	c.1346_1347dup	p.Phe450Leufs*42	Pathogenic	2	Prigoda (2006) Lee (2011)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581077	Exon 11	Deletion	c.1346_1347del	p.Ser449Phefs*51	Pathogenic	6	Cymerman (2003) Lesca (2004) Letteboer (2005) Schulte (2005) Bayrak-Toydemir (2006) Nishida (2012) Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581089	Exon 11	Deletion	c.1334del	p.Met445Argfs*46	Pathogenic	1	Harrison (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581105	Exon 11	Missense	c.1318G>A	p.Val440Met	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581106	Exon 11	Insertion	c.1317_1318insA	p.Val440Serfs*61	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581108	Exon 11	Duplication	c.1315_1322dup	p.His441Glnfs*53	Pathogenic	1	Argyriou(2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581111	Exon 11	Indel	c.1312_1341delinsCTGGGC	p.Lys438_Ala658delins43	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588816	Exon 11	Duplication	c.1336_1337dup	p.Asp446Glufs*46	Pathogenic	1	Mutize (2020)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581114	Intron 10	Splice Site	c.1312-3C>G		Uncertain	2	Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581177	Intron 10	Intronic	c.1312-66C>A		Benign	1	ARUP Laboratories	Clinical Features: T Co-segregation: mRNA study: Functional study: Comments:
130581812	Intron 10	Intronic	c.1311+89C>T		Benign	1	ARUP Laboratories	Clinical Features: P Co-segregation: mRNA study: Functional study: Comments:
130581896	Intron 10	Splice Site	c.1311+5G>A		Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: 2 affected children also have variant mRNA study: Functional study: Comments:
130581899	Intron 10	Splice Site	c.1311+2T>C		Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581899	Intron 10	Splice Site	c.1311+2T>G		Pathogenic	4	ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E P F Co-segregation: mRNA study: Functional study: Comments:
130581899	Intron 10	Splice Site	c.1311+2T>A		Pathogenic	1	Cymerman (2000) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581900	Intron 10	Splice Site	c.1311+1G>A		Pathogenic	1	IMPACT Genetics	Clinical Features: P, E, F Co-segregation: mRNA study: Functional study: Comments:
130581900	Intron 10	Splice Site	c.1311+1dup		Suspected Pathogenic	1	Gedge (2007) ARUP Laboratories	Clinical Features: E P F Co-segregation: mRNA study: Functional study: Comments:
130581901	Exon 10	Splice Site	c.1311G>T	p.Arg437Arg	Suspected Pathogenic	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130581901	Exon 10	Splice Site	c.1311G>C	p.Arg437Arg	Pending classification	1	Gallione (1998)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9b.
130581901	Exon 10	Splice Site	c.1311G>A	p.Arg437Arg	Pending classification	2	Letteboer (2005) Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9b.
130581901	Exon 10	Deletion	c.1311del	p.Lys439Argfs*52	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9b.
130581902	Exon 10	Missense	c.1310G>A	p.Arg437Gln	Pathogenic	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130581903	Exon 10	Missense	c.1309C>G	p.Arg437Gly	Pending classsification		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581903	Exon 10	Missense	c.1309C>T	p.Arg437Trp	Pathogenic	4	Bossler (2006) Gedge (2007) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated
130581906	Exon 10	Nonsense	c.1306C>T	p.Gln436*	Pathogenic	2	Lenato (2006) ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9b.
130581914	Exon 10	Nonsense	c.1298C>G	p.Ser433*	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581920	Exon 10	Nonsense	c.1292C>A	p.Ser431*	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9b.
130581935	Exon 10	Missense	c.1277T>G	p.Val426Gly	Uncertain	1	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130581940	Intron 9	Splice Site	c.1273-1G>C		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581940	Intron 9	Splice Site	c.1273-1G>A		Pathogenic	1	Kjeldsen (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130581941	Intron 9	Splice Site	c.1273-2A>G		Pathogenic	2	Bossler (2006) ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130581943	Intron 9	Splice Site	c.1273-4G>A		Uncertain	1	Prigoda (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130582169	Intron 9	Splice Site	c.1272+10G>A		Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130582183	Exon 9	Missense	c.1268A>G	p.Asn423Ser	Uncertain	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582183	Exon 9	Deletion	c.1268del	p.Asn423Metfs*68	Pathogenic	9	ARUP Laboratories Gallione (1998) Abdalla (2005) Gedge (2007) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: Previously reported as 1267delA in exon 9a.
130582196	Exon 9	Deletion	c.1255del	p.Ser419Valfs*2	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582208	Exon 9	Nonsense	c.1243C>T	p.Gln415*	Pathogenic	2	Wehner (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582213	Exon 9	Missense	c.1238G>T	p.Gly413Val	Pending classification	2	Gallione (2000) Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582216	Exon 9	Missense	c.1235G>A	p.Cys412Tyr	Uncertain	2	Gedge (2007) ARUP Laboratories	Clinical Features: T Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated. Found in a likely unaffected individual, reported as in exon 8 in paper.
130582217	Exon 9	Missense	c.1234T>A	p.Cys412Ser	Pending classification	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582220	Exon 9	Deletion	c.1231_1233del	p.Ser411del	Pending classification	1	Paquet (2001)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582231	Exon 9	Missense	c.1220G>T	p.Ser407Ile	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Grantham difference 141,polyphen SIFT, A-GVGD all suggest pathogenic. Highly conserved residue occurs in functional domain. Variant at same codon (p. Ser407Asn) published as pathogenic. (Edinburgh)
130582231	Exon 9	Missense	c.1220G>A	p.Ser407Asn	Pending classification	3	Paquet (2001) Wehner (2006) Nishida (2012)	Clinical Features: Co-segregation: 2 individuals mRNA study: Functional study: Comments: Original report is exon 9a.
130582236	Exon 9	MIssense	c.1215G>C	p.Leu405Phe	Pending classification	2	Submitted by Edinburgh Laboratories 2013 IMPACT Genetics	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: 3/3 programs predict pathogenic. PolyPhen2 Probably Damaging 0.999. Polyphen damaging. (Edinburgh)
130582238	Exon 9	Insertion	c.1213_1214ins11	p.Leu405fs	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582245	Exon 9	Deletion	c.1206del	p.Lys402Asnfs*19	Pathogenic	1	Gallione (1998)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582252	Exon 9	Deletion	c.1199del	p.Gly400Valfs*21	Pathogenic	1	Cymerman (2003) Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582256	Exon 9	Deletion	c.1195del	p.Arg399Glyfs*22	Pathogenic	4	Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) ARUP Laboratories Nishida (2012) Submitted by Edinburgh Laboratories 2013	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130582261	Exon 9	Duplication	c.1190_1191dup	p.Asp398Argfs*24	Pathogenic	2	Lenato (2006) Giordano (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582265	Exon 9	Deletion	c.1186del	p.Ala396Glnfs*25	Pathogenic	1	Cymerman (2000) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582275	Exon 9	Nonsense	c.1176del	p.Ser393Alafs*28	Pathogenic	1	Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130582282	Exon 9	Nonsense	c.1169G>A	p.Trp390*	Pathogenic	3	ARUP Laboratories Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582285	Exon 9	Deletion	c.1166_1168del	p.Phe389del	Pathogenic	2	Brusgaard (2004) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582305	Exon 9	Missense	c.1146C>G	p.Cys382Trp	Pending classification	2	Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582305	Exon 9	Nonsense	c.1146C>A	p.Cys382*	Pathogenic	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130582307	Exon 9	Missense	c.1144T>G	p.Cys382Gly	Uncertain	1	Olivieri (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582309	Exon 9	Deletion	c.1135del	p.His379Ilefs*2	Pathogenic	1	Olivieri (2018 submitted)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130582309	Exon 9	Insertion	c.1142_1143insT	p.Lys381Asnfs*15	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Original report is exon 9a.
130582316	Exon 9-14	Large Deletion	EX9_14del		Pathogenic	3	ARUP Laboratories	Clinical Features: E G P Co-segregation: mRNA study: Functional study: Comments:
130582316	Exon 9-13	Large Deletion	EX9_13del		Pathogenic	3	Shovlin (1997) Cymerman (2003) Lesca (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130582316	Exon 9-10	Large Deletion	EX9_10del		Pathogenic	11	Bossler (2006) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130582316	Exon 9	Large Deletion	EX9del		Pathogenic	1	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130586149	Intron 8	Intronic	c.1134+164C>T		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586490	Intron 8	Intronic	c.1134+93G>T		Benign	2	ARUP Laboratories	Clinical Features: C P Co-segregation: mRNA study: Functional study: Comments:
130586491	Intron 8	Intronic	c.1134+92G>A		Benign	1	ARUP Laboratories	Clinical Features: E G C Co-segregation: mRNA study: Functional study: Comments:
130586529	Intron 8	Intronic	c.1134+54C>T		Pending classification	1	Gedge (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported in Gedge (2007) as c.1135+54C>T.
130586579	Intron 8	Splice Site	c.1134+4_1134+9del		Pending classification	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.1134+3_1134+8delAAGGGA
130586582	Intron 8	Splice Site	c.1134+1G>A		Pathogenic	2	Abdalla (2005) Gedge (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.1135+1G>C in Gedge (2007)
130586583	Intron 8	Insertion/InFrame	c.1134_1135ins220_1134	p.Ala378_His379 insGly74_Ala373ext	Pathogenic	4	Shovlin (1997) Bourdeau (2000) Simon(2006) Assis (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586583	Exon 8	Splice Site	c.1134G>A	p.Ala378Ala	Pathogenic	4	Letteboer (2005) Bossler (2006) Olivieri (2007) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments: Synonymous change. 5/5 Alamut programmes give lower scores for donor splice site. (Edinburgh)
130586593	Exon 8	Deletion	c.1124_1125del	p.Glu375Alafs*20	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586594	Exon 8	Nonsense	c.1123G>T	p.Glu375*	Pathogenic	1	Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586595	Exon 8	Duplication	c.1122dup	p.Glu375Argfs*21	Pathogenic	3	Submitted by Edinburgh Laboratories 2013 Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.1122_1123insA; R375fs
130586596	Exon 8	Deletion	c.1121_1124del	p.Lys374Serfs*6	Pathogenic	1	Dakeishi (2002)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586596	Exon 8	Indel	c.1121_1122delinsGC	p.Lys374Ser	Pathogenic	2	Letteboer (2005) Gedge (2007) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: Seen as a de-novo mutation in Gedge (2007)
130586598	Exon 8	Deletion	c.1119_1121del	p.Lys374del	Uncertain	2	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130586598	Exon 8	Deletion	c.1119del	p.Glu375Serfs*6	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586600	Exon 8	Insertion	c.1117_1118insT	p.Lys373Ilefs*23	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586605	Exon 8	Deletion	c.1112_1134del	p.Val371Alafs*17	Pathogenic	2	Lesca (2004) Bayrak-Toydemir (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586606	Exon 8	Duplication	c.1111dup	p.Val371Glyfs*25	Pathogenic	3	McAllister (1995) Pece (1997) Cymerman (2000) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586608	Exon 8	Missense	c.1109T>C	p.Leu370Pro	Uncertain	1	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130586609	Exon 8	Duplication	c.1108dup	p.Leu370Profs*26	Pathogenic	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130586613	Exon 8	Deletion	c.1104del	p.Met368Ilefs*5	Pathogenic	1	IMPACT Genetics	Clinical Features: E, G, T Co-segregation: mRNA study: Functional study: Comments:
130586619	Exon 8	Deletion	c.1098_1120del	p.Asp366Glufs*22	Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.1097_1119del
130586619	Exon 8	Insertion	c.1098_1099insT	p.Ala367Cysfs*29	Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586621	Exon 8	Missense	c.1096G>C	p.Asp366His	Benign	6	Lastella (2003) Lin (2001) Lesca (2004) Abdalla (2005) Lin (2000) Lenato (2006) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130586622	Exon 8	Silent	c.1095C>T	p.Asp365Asp	Suspected Benign	2	ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586628	Exon 8	Deletion	c.1089_1090del	p.Ala364Argfs*31	Pathogenic	1	Cymerman (2000)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586629	Exon 8	Missense	c.1088G>A	p.Cys363Tyr	Pending classification	2	Paquet (2001) Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586630	Exon 8	Missense	c.1087T>A	p.Cys363Ser	Suspected Pathogenic	3	Bossler (2006) Gedge (2007) Nishida (2012) ARUP Laboratories	Clinical Features: E T F Co-segregation: 2 individuals mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated
130586632	Exon 8	Deletion	c.1085del	p.Lys362Serfs*7	Pathogenic	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586637	Exon 8	Deletion	c.1080_1083del	p.Thr361Serfs*7	Pathogenic	7	Gallione (1998) Kuehl (2005) Wehner (2006) Bossler (2006) Olivieri (2007) ARUP Laboratories Nishida (2012) Lee (2011)	Clinical Features: C F Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.1078_1081delCAGA. c.1278_1281delCAGA (Kuehl (2005), PMID 15712270)
130586639	Exon 8	Nonsense	c.1078C>T	p.Gln360*	Pathogenic	2	Letteboer (2005) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130586641	Exon 8	Missense	c.1076T>C	p.Ile359Thr	Pathogenic	2	ARUP Laboratories	Clinical Features: E T G P Co-segregation: mRNA study: Functional study: Mutation confirmed in affected father, brother, uncle and 1st cousin of one proband. ARUP Laboratories. Comments:
130586657	Exon 8	Silent	c.1060C>T	p.Leu354Leu	Benign	9	ARUP Laboratories	Clinical Features: E T H P F Co-segregation: mRNA study: Functional study: Comments:
130586662	Exon 8	Missense	c.1055C>T	p.Pro352Leu	Pending classification	1	Lastella (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586667	Exon 8	Nonsense	c.1050T>A	p.Cys350*	Pathogenic	4	McAllister (1994) McAllister (1995) Pece (1997) Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586670	Exon 8	Duplication	c.1047_1048dup	p.Cys350Phefs*10	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586688	Exon 8	Silent	c.1029C>T	p.Thr343Thr	Benign	12	Shovlin (1997) Lesca (2004) Lenato (2006) ARUP Laboratories	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments:
130586698	Exon 8	Missense	c.1019C>T	p.Pro340Leu	Suspected Benign	1	ARUP Laboratories	Clinical Features: F Co-segregation: mRNA study: Functional study: Comments:
130586707	Exon 8	Nonsense	c.1010C>G	p.Ser337*	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586693	Exon 8	Deletion	c.1015_1024del	p.Ala339Argfs*17	Likely Pathogenic	1	Submitted by Institute of Human Genetics- Gottingen Germany	Clinical Features: P, T, apoplexy Co-segregation: mRNA study: Functional study: Comments:
130586710	Exon 8	Insertion	c.1007_1008insG	p.Ser337Leufs*15	Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586718	Exon 8	Silent	c.999G>A	p.Arg333Arg	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586720	Exon 8	Deletion	c.997_1001del	p.Arg333Alafs*17	Pathogenic	1	ARUP Laboratories	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130586722	Exon 8	Deletion	c.995del	p.Gly332Valfs*27	Pathogenic	2	Letteboer (2005) Gedge (2007) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130586724	Exon 8	Deletion	c.993_1134del	p.Gly332Ilefs*2	Pathogenic	1	Shovlin (1997)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586726	Intron 7	Splice Site	c.992-1G>A		Pathogenic	2	Lesca (2006) Gedge (2007) ARUP Laboratories	Clinical Features: T P Co-segregation: mRNA study: Functional study: Comments: Reported as c.991-1G>A
130586727	Intron 7	Splice Site	c.992-2A>G		Pathogenic	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586728	Intron 7	Splice Site	c.992-3C>G		Pathogenic	1	Nishida (2012) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130586750	Exon 8	Large Deletion	EX8del		Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.992-25_1120del152, this deleted Exon 8 into Exon 9.
130587021	Intron 7	Intronic	c.991+58A>T		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587057	Intron 7	Intronic	c.991+22_991+26dup		Benign	2	Lesca (2004) Lenato (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.992+26insCTCCC
130587058	Intron 7	Intronic	c.991+21_991+26dup		Benign	1	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130587077	Intron 7	Splice Site	c.991+2T>G		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587078	Intron 7	Splice Site	c.991+1del		Pathogenic	1	IMPACT Genetics	Clinical Features: E, T, F Co-segregation: mRNA study: Functional study: Comments:
130587079	Exon 7	Missense	c.991G>A	p.Gly331Ser	Pathogenic	7	Letteboer (2005) Bossler (2006) Gedge (2007) ARUP Laboratories Nishida (2012) McDonald (2009)	Clinical Features: E T P F Co-segregation: Affected father mRNA study: Functional study: Comments:
130587080	Exon 7	Deletion	c.990del	p.Cys330Trpfs*29	Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587091	Exon 7	Duplication	c.979_982dup	p.Ser328Cysfs*7	Pathogenic	1	Prigoda (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587102	Exon 7	Duplication	c.968dup	p.Ser324Leufs*10	Pathogenic	4	Shovlin (1997) Harrison (2003) Bayrak-Toydemir (2006) Gedge (2007) ARUP Laboratories	Clinical Features: E P F Co-segregation: mRNA study: Functional study: Comments:
130587103	Exon 7	Deletion	c.967_968del	p.Val323Leufs*10	Pathogenic	1	Fernandez (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587117	Exon 7	Missense	c.953C>T	p.Pro318Leu	Uncertain	1	Personal communication with Jennifer Thomson (Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587117	Exon 7	Duplication	c.953dup	p.Leu319Alafs*15	Pathogenic	1	Prigoda (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587138	Exon 7	Missense	c.932T>G	p.Val311Gly	Pending classification	1	Karabegovic (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587147	Exon 7	Missense	c.923C>A	p.Ala308Asp	Suspected Pathogenic	4	Bossler (2006) Prigoda (2006) Nishida (2012) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587153	Exon 7	Missense	c.917T>C	p.Leu306Pro	Pending classification	3	Gallione (1998) Letteboer (2005) Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587162	Exon 7	Missense	c.908C>A	p.Ala303Asp	Uncertain	1	IMPACT Genetics	Clinical Features: E, T Co-segregation: mRNA study: Functional study: Comments:
130587163	Exon 7	Duplication	c.907dup	p.Ala303Glyfs*31	Pathogenic	2	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130587165	Exon 7	Deletion	c.905_915del	p.Glu302Alafs*28	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587166	Exon 7	Nonsense	c.904G>T	p.Glu302*	Pathogenic	1	ARUP Laboratories	Clinical Features: T Co-segregation: mRNA study: Functional study: Comments:
130587167	Exon 7	Duplication	c.903_904dup	p.Glu302Glyfs*58	Pathogenic	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.904_905insGG
130587171	Exon 7	Missense	c.899T>C	p.Leu300Pro	Pathogenic	4	Gedge (2007) Bayrak-Toydemir (2008) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.01 NOT tolerated
130587174	Exon 7	Deletion	c.896_1082del	p.Leu299Glnfs*8	Pathogenic	1	Prigoda (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Deletes 186 bp starting in exon 7 and deleting the exon 7 3' splice site will cause exon skipping, frameshift and termination codon.
130587177	Exon 7	Deletion	c.893del	p.Gly298Alafs*61	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587180	Exon 7	Missense	c.890A>C	p.Gln297Pro	Suspected Benign	1	ARUP Laboratories	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments: Based on segregation study in one family
130587181	Exon 7	Nonsense	c.889C>T	p.Gln297*	Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587182	Exon 7	Indel	c.888_918delinsAAGCTCCCAG	p.Gln297_Leu306delins SerSerGln	Pending classification	2	Letteboer (2005) Lastres (1994)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587188	Exon 7	Deletion	c.882_920del	p.Thr295_Asn307del	Pending classification	2	McAllister (1994) Lastres (1994)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587192	Exon 7	Duplication	c.878dup	p.Asp294Argfs*40	Pathogenic	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587195	Exon 7	Missense	c.875T>A	p.Leu292His	Uncertain	2	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130587198	Exon 7	Deletion	c.872_883del	p.Lys291_Asp294del	Suspected Pathogenic	4	Gedge (2007) ARUP Laboratories Delaney (2012)	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130587206	Exon 7	Deletion	c.864del	p.Gly289Alafs*70	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587235	Exon 7	Deletion	c.835_837del	p.Phe279del	Pending classification	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587236	Exon 7	Deletion	c.834_837del	p.Phe279Argfs*79	Pathogenic	1	Fernandez (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587236	Exon 7	Duplication	c.834dup	p.Phe279Leufs*55	Pathogenic	1	Fernandez (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587239	Exon 7	Nonsense	c.831C>G	p.Tyr277*	Pathogenic	2	McAllister (1994) Lastres (1994)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587242	Exon 7	Duplication	c.828dup	p.Tyr277Ilefs*57	Pathogenic	1	Dakeishi (2002)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587248	Exon 7	Deletion	c.822_823del	p.Gly275Argfs*58	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587249	Exon 7	Missense	c.821C>T	p.Thr274Ile	Pending classification		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587250	Exon 7	Indel	c.820_826delins14	p.Thr274Leufs*62	Pathogenic	1	Cymerman (2000)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587253	Exon 7-8	Large Deletion	EX7_8del	Deletion Exon 7-9	Pathogenic	2	ARUP Laboratories	Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: Deletion Exon 7-8
130587253	Exon 7-8	Large Deletion	EX7-8del	p.Thr273_Ala378del	Pathogenic	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.817_1134delinsTAAAC (g.IVS6+140_IVS8+20>TAACC)
130587254	Intron 6	Splice Site	c.817-1G>C		Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587254	Intron 6	Splice Site	c.817-1G>T		Pathogenic	1	Fodstad (2011)	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587255	Intron 6	Splice Site	c.817-2A>T		Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587256	Intron 6	Splice Site	c.817-3T>G		Pending classification	1	Torring (2012)	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587260	Intron 6	Splice Site	c.817-7C>G		Pending classification	1	Prigoda (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Confirmed by RNA: created a criptic AG site which inserts 6bases into transcript, the second codon inserted is a stop codon.
130587280	Intron 6	Intronic	c.817-27_817-26del		Pending classification	1	Gedge (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587332	Intron 6	Intronic	c.817-79C>A		Benign	4	ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: C Co-segregation: mRNA study: Functional study: Comments:
130587505	Intron 6	Splice Site	c.816+5G>C		Suspected Pathogenic	1	Olivieri (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587508	Intron 6	Splice Site	c.816+2T>C		Pathogenic	2	Schulte (2005) Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587508	Intron 6	Splice Site	c.816+2T>A		Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587509	Intron 6	Splice Site	c.816+1G>A		Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587510	Exon 6	Nonsense	c.816G>A	p.Trp272*	Pathogenic	2	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130587511	Exon 6	Nonsense	c.815G>A	p.Trp272*	Pathogenic	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130587514	Exon 6	Missense	c.812T>A	p.Ile271Asn	Pending classification	2	Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587518	Exon 6	Nonsense	c.808C>T	p.Gln270*	Pathogenic	2	Torring (2014) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587527	Exon 6	Duplication	c.799_805dup	p.Met269Thrfs*67	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587536	Exon 6	Missense	c.790G>A	p.Asp264Asn	Uncertain	1	Letteboer (2005) Lenato (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587538	Exon 6	Missense	c.788T>C	p.Ile263Thr	Uncertain	1	Lesca (2004) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587539	Exon 6	Deletion	c.787_789del	p.Ile263del	Pending classification	5	Lesca (2004) Letteboer (2005) Kuehl (2005) Bossler (2006) Lesca (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587541	Exon 6	Deletion	c.785_789del	p.Leu262Argfs*70	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587544	Exon 6	Nonsense	c.782G>A	p.Trp261*	Pathogenic	2	Paquet (2001) Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587545	Exon 6	Missense	c.781T>C	p.Trp261Arg	Pending classification	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587546	Exon 6	Insertion	c.780_781ins8	p.Ser260fs	Pathogenic	1	Olivieri (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.780ins8
130587548	Exon 6	Missense	c.778T>C	p.Ser260Pro	Pending classification	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587551	Exon 6	Deletion	c.775del	p.Val259Cysfs*100	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587552	Exon 6	Nonsense	c.774C>A	p.Tyr258*	Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587552	Exon 6	Nonsense	c.774C>G	p.Tyr258*	Pathogenic	1	Olivieri (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587553	Exon 6	Indel	c.773_776delinsGCAGGGTC	p.Tyr258Cysfs*77	Pathogenic	1	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130587554	Exon 6	Insertion	c.772_773insC	p.Tyr258Serfs*76	Pathogenic	1	Lesca (2004) Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587554	Exon 6	Deletion	c.772del	p.Tyr258Thrfs*101	Pathogenic	4	Fernandez (2006) Olivieri (2007) ARUP Laboratories Nishida (2012)	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130587555	Exon 6	Deletion	c.771del	p.Tyr258Thrfs*101	Pathogenic	3	Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130587555	Exon 6	Duplication	c.771dup	p.Tyr258Leufs*76	Pathogenic	5	ARUP Laboratories Lesca (2004) Lenato (2006) Fontalba (2008) Letteboer (2005)	Clinical Features: E G Co-segregation: mRNA study: Functional study: Comments:
130587566	Exon 6	Nonsense	c.760C>T	p.Gln254*	Pathogenic	1	IMPACT Genetics ARUP Laboratories	Clinical Features: E, T, G, F Co-segregation: E,T, TIA, confirmed+ in 1 affected and - in 1 NA mRNA study: Functional study: Comments:
130587566	Exon 6	Duplication	c.760dup	p.Gln254Profs*80	Pathogenic	1	Submitted by Dezan, M / Immunohematology Division, Fundação Pró-Sangue, Hemocentro de São Paulo	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587574	Exon 6	Missense	c.752T>G	p.Leu251Arg	Pending classification	1	IMPACT Genetics	Clinical Features: Co-segregation: confirmed + in 1 affected and - in 1 NA mRNA study: Functional study: Comments: SIFT, Polyphen, PMUT and Panther predict damaging
130587575	Exon 6	Deletion	c.751_753del	p.Leu251del	Pending classification	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587583	Exon 6	Deletion	c.743del	p.Asp248Valfs*111	Pathogenic	1	ARUP Laboratories	Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments:
130587586	Exon 6	Deletion	c.740del	p.Leu247Profs*112	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587590	Exon 6	Deletion	c.736del	p.Asp246Ilefs*113	Pathogenic	3	Cymerman (2003) Bossler (2006) Letteboer (2005) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Also reported as c.733delG; p.G245fs
130587600	Exon 6	Nonsense	c.726C>A	p.Cys242*	Pathogenic	3	ARUP Laboratories McDonald (2009)	Clinical Features: E T H F Co-segregation: Affected pat uncle (McDonald 2009). mRNA study: Functional study: Comments:
130587605	Exon 6	Deletion	c.721_725del	p.Ser241Argfs*91	Pathogenic	1	ARUP Laboratories	Clinical Features: E T C F Co-segregation: mRNA study: Functional study: Comments:
130587610	Exon 6	Insertion	c.716_717insG	p.Leu240Thrfs*94	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587611	Exon 6	Nonsense	c.715G>T	p.Glu239*	Pathogenic	1	Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587611	Exon 6	Duplication	c.715dup	p.Glu239Glyfs*95	Pathogenic	2	Bossler (2006) Prigoda (2006) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587613	Exon 6	Missense	c.713T>A	p.Val238Glu	Uncertain	2	ARUP Laboratories Richards-Yutz (2010)	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130587622	Exon 6	Deletion	c.704del	p.Thr235Argfs*2	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587625	Exon 6	Insertion	c.701_702insACGG	p.Thr235Argfs*100	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587632	Exon 6	Deletion	c.694_699del	p.Arg232_Thr233del	Pending classification	2	Lesca (2004) ARUP Laboratories	Clinical Features: E H P Co-segregation: mRNA study: Functional study: Comments:
130588816	Exon 6	Large Deletion	EX6del		Pathogenic	1	Mutize (2020)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Family carried deletion in exon 6 (c.(690?_816+?del] p.[ (?)] that accompanied a nonpathogenic duplication of exons 3–4 (c.[220-?_523+?dup] p.[(?)]).
130587637	Intron 5	Splice Site	c.690-1G>A		Pathogenic	2	Argyriou(2006) ARUP Laboratories	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130587638	Intron 5	Splice Site	c.690-2A>T		Pathogenic	3	Cymerman (2000) Nishida (2012) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Removes 3' acceptor site according to all 4 splicing softwares. (Edinburgh)
130587908	Intron 5	Intronic	c.689+66dup		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587972	Intron 5	Splice Site	c.689+2T>C		Pathogenic	2	Lesca (2004) Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587981	Exon 5	Deletion	c.682_686del	p.Ser228Argfs*104	Pathogenic	1	Harrison (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130587989	Exon 5	Missense	c.674C>T	p.Pro225Leu	Uncertain	2	ARUP Laboratories McDonald (2009)	Clinical Features: E T F Co-segregation: Mother with recurrent epistaxis (McDonald 2009). mRNA study: Functional study: Comments:
130588001	Exon 5	Deletion	c.667del	p.Val223Serfs*12	Pathogenic	2	ARUP Laboratories Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.665delG
130588001	Exon 5	Missense	c.662T>C	p.Leu221Pro	Pathogenic	7	Pece-Barbara (1999) Schulte (2005) Kuehl (2005) Bossler (2006) Gedge (2007) ARUP Laboratories Nishida (2012) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T P F Co-segregation: 4 individuals mRNA study: Functional study: Comments:
130588004	Exon 5	Indel	c.659_660delinsAT	p.Ile220Asn	Suspected pathogenic	2	Gedge (2007) ARUP Laboratories	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments:
130588004	Exon 5	Missense	c.659T>C	p.Ile220Thr	Pathogenic	4	Bossler (2006) Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.01 NOT tolerated
130588004	Exon 5	Missense	c.659T>A	p.Ile220Asn	Pathogenic	2	Gedge (2007) ARUP Laboratories	Clinical Features: C F Co-segregation: mRNA study: Functional study: Comments: Patient has intracranial hemorrhage due to large AVM. Two other vascular lesions seen on MRI. Her father has epistaxis and telangiectasia.
130588006	Exon 5	Deletion	c.657_658del	p.Ile220Profs*113	Pathogenic	1	Bourdeau (2000)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588010	Exon 5	Duplication	c.653dup	p.His219Alafs*115	Pathogenic	2	Bossler (2006) Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588016	Exon 5	Deletion	c.647del	p.Lys216Argfs*6	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588017	Exon 5	Missense	c.646A>G	p.Lys216Glu	Pending classification	4	Fontalba (2008) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Possible mutation. Query mosaic in affected patient. Mosaic mutation in this family (Edinburgh). Previously reported as p.K216Q.
130588019	Exon 5	Deletion	c.644del	p.His215Profs*7	Pathogenic	1	Argyriou(2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588023	Exon 5	Deletion	c.640_643del	p.Gly214Thrfs*7	Pathogenic	2	Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) Bossler (2006) ARUP Laboratories	Clinical Features: C Co-segregation: mRNA study: Functional study: Comments:
130588023	Exon 5	Missense	c.640G>A	p.Gly214Ser	Pathogenic		Personal communication with Dr. Michelle Letartte (SickKids PGCRL)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Patient with PAVM, CAVM, telangiectasia. No family history and no mutation in parents. Patient has developmental delay, microcephaly, hypothyroidism (Letartte)
130588037	Exon 5	Nonsense	c.626T>A	p.Leu209*	Pathogenic	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130588042	Exon 5	Deletion	c.619_621del	p.Cys207del	Pending classification	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588043	Exon 5	Missense	c.620G>A	p.Cys207Tyr	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588046	Exon 5	Deletion	c.617delG	p.Gly206Alafs*16	Pathogenic	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588049	Exon 5	Missense	c.614G>C	p.Arg205Pro	Pathogenic	2	Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: Found in 5 affected family members (proband, 2 first-degree and 2 second-degree relatives) mRNA study: Functional study: Comments: Absent from controls (Genome Aggregation Database)
130588059	Exon 5	Indel	c.604_607delinsCCC	p.Ala202Profs*20	Pathogenic	4	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588068	Exon 5	Duplication	c.595_596dup	p.Thr200Valfs*23	Pathogenic	1	Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588069	Exon 5	Deletion	c.594_622del	p.Arg199Leufs*125	Pathogenic	2	Lastella (2003) Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588070	Exon 5	Missense	c.593C>T	p.Pro198Leu	Uncertain	3	ARUP Laboratories McDonald (2009)	Clinical Features: E T Co-segregation: mRNA study: Functional study: add multipl mutation paper Comments:
130588072	Exon 5	Deletion	c.591del	p.Pro198Argfs*24	Pathogenic	1	ARUP Laboratories	Clinical Features: E G C Co-segregation: mRNA study: Functional study: Comments:
130588073	Exon 5	Missense	c.590G>C	p.Arg197Pro	Pending classification	2	Olivieri (2007) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588073	Exon 5	Missense	c.590G>A	p.Arg197Gln	Pending classification	1	Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588074	Exon 5	Missense	c.589C>T	p.Arg197Trp	Pending classification	1	IMPACT Genetics	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588075	Exon 5	Nonsense	c.588G>A	p.Trp196*	Pathogenic	2	Cymerman (2003) ARUP Laboratories	Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments:
130588076	Exon 5	Nonsense	c.587G>A	p.Trp196*	Pathogenic	3	McAllister (1995) Cymerman (2000) Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588077	Exon 5	Deletion	c.586_604del	p.Trp196Profs*20	Pathogenic	1	Abdalla (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Hepatic and liver shunts.
130588077	Exon 5	Missense	c.586T>C	p.Trp196Arg	Pathogenic	1	Bayrak-Toydemir (2004) Bayrak-Toydemir (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588082	Exon 5	Deletion	c.581_592del	p.Leu194_Arg197del	Pathogenic	2	Gedge (2007) ARUP Laboratories	Clinical Features: E P F Co-segregation: Variant was identified in 2 affected relatives of the proband (1 first-degree, 1 second-degree), and was absent from an unaffected relative (second-degree). mRNA study: Functional study: Comments:
130588082	Exon 5	Missense	c.581T>C	p.Leu194Pro	Uncertain	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588083	Exon 5	Deletion	c.580_596del	p.Leu194Tyrfs*134	Pathogenic	1	ARUP Laboratories	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130588085	Exon 5	Deletion	c.578_596del	p.Thr193Ilefs*23	Pathogenic	1	Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588086	Exon 5	Indel	c.577_582delinsGTACTCCAG	p.Thr193delinsSerThrProAla	Pending classification	1	Argyriou(2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Previously reported as p.T193_L194del VLQins
130588086	Exon 5	Duplication	c.577_580dup	p.Leu194Hisfs*141	Pathogenic	2	Cymerman (2000) ARUP Laboratories	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments:
130588086	Exon 5	Insertion	c.577_578insGC	p.Thr193Serfs*30	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588087	Exon 5	Deletion	c.576_596del	p.Leu194_Thr200del	Pathogenic	1	Shovlin (1997)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588089	Exon 5	Deletion	c.574del	p.Arg192Alafs*30	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588091	Exon 5	Missense	c.572G>A	p.Gly191Asp	Benign	6	Lesca (2004) Abdalla (2005) Lenato (2006) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T P H F Co-segregation: mRNA study: Functional study: Comments:
130588099	Exon 5	Duplication	c.562dup	p.Gln188Profs*146	Pathogenic	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Reported as c.562_563insC
130588126	Exon 5	Deletion	c.537_538del	p.Ser180Leufs*153	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588137	Exon 5	Nonsense	c.526C>T	p.Gln176*	Pathogenic	3	Olivieri (2007) ARUP Laboratories	Clinical Features: E G F Co-segregation: mRNA study: Functional study: Comments:
130588139	Exon 5	Large Deletion	EX5del		Pathogenic	2	Cymerman (2003) ARUP Laboratories	Clinical Features: E C F Co-segregation: mRNA study: Functional study: Comments: Author published as: c.524_689del p.Ala175fs
130588140	Intron 4	Splice Site	c.524-1G>A		Pathogenic	3	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130588141	Intron 4	Splice Site	c.524-2A>G		Pathogenic	5	Gallione (1998) Bayrak-Toydemir (2006) Gedge (2007) ARUP Laboratories	Clinical Features: E T C H P F Co-segregation: mRNA study: Functional study: Comments:
130588154	Intron 4	Intronic	c.524-15C>T		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588787	Exon 4	Missense	c.512G>C	p.Arg171Pro	Pathogenic	2	ARUP Laboratories	Co-segregation: Identified in a fourth degree relative and a fifth degree relative of the proband, both with clinical diagnoses of HHT.
130588788	Exon 4	Splice Site	c.523G>C	p.Ala175Pro	Pending classification	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Author published as: p.Asn121fs
130588789	Exon 4	Splice Site	c.523G>A	p.Ala175Thr	Pathogenic	2	Bossler (2006) Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588801	Exon 4	Nonsense	c.511C>T	p.Arg171*	Pathogenic	14	Shovlin (1997) Lastella (2003) Lesca (2004) Berg (2003) Fernandez (2005) Sanz-Rodriguez (2004) Lenato (2006) Bayrak-Toydemir (2006) Fernandez (2006) Bossler (2006) ARUP Laboratories Lee (2011) submitted by Edinburgh	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130588810	Exon 4	Missense	c.502A>T	p.Ile168Phe	Uncertain		Personal communication with Dr. Silvana Penco from Niguarda Ca'Granda Hospitl, Milan Italy	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Patient with PAVM, CAVM, no family history.
130588815	Exon 4	Insertion	c.497_498insC	p.Gln166Hisfs*168	Pathogenic	2	Letteboer (2005) ARUP Laboratories	Clinical Features: E T H P Co-segregation: mRNA study: Functional study: Comments:
130588816	Exon 4	Duplication	c.496dup	p.Gln166Profs*168	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588816	Exon 4	Deletion	c.496del	p.Gln166Argfs*56	Pathogenic	3	Lesca (2004) Mutize (2020) ARUP Laboratories	Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments:
130588817	Exon 4	Deletion	c.495_496del	p.Gln166Glufs*167	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588818	Exon 4	Deletion	c.494_501del	p.Pro165Hisfs*166	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588818	Exon 4	Missense	c.494C>T	p.Pro165Leu	Pending classification	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588818	Exon 4	Missense	c.494C>G	p.Pro165Arg	Uncertain	2	Gedge (2007) ARUP Laboratories	Clinical Features: E T C Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.01 NOT tolerated
130588819	Exon 4	Missense	c.493C>T	p.Pro165Ser	Uncertain	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130588833	Exon 4	Missense	c.479C>A	p.Ala160Asp	Pending classification	1	Yamaguchi (1997) Paquet (2001)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588834	Exon 4	Missense	c.478G>C	p.Ala160Pro	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Sift and PolyPhen2 (0.984) predict deleterious. pAla160Asp known to be pathogenic. (Edinburgh)
130588841	Exon 4	Deletion	c.471_472del	p.Ser158Cysfs*3	Pathogenic	3	Gedge (2007) ARUP Laboratories	Clinical Features: E T C Co-segregation: mRNA study: Functional study: Comments:
130588851	Exon 4	Deletion	c.461del	p.Gly154Alafs*9	Pathogenic	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588855	Exon 4	Deletion	c.457del	p.Arg153Glyfs*10	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588865	Exon 4	Missense	c.447G>C	p.Trp149Cys	Pathogenic	7	Gallione (1998) Bourdeau (2000) Bossler (2006) ARUP Laboratories Nishida (2012)	Clinical Features: E T G P F Co-segregation: 3 individuals mRNA study: Functional study: Comments:
130588865	Exon 4	Nonsense	c.447G>A	p.Trp149*	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588866	Exon 4	Missense	c.446G>C	p.Trp149Ser	Uncertain	2	Gedge (2007) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated
130588890	Exon 4	Deletion	c.422del	p.Phe141Serfs*22	Pathogenic	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130588915	Exon 4	Duplication	c.397dup	p.Val133Glyfs*16	Pathogenic	1	IMPACT Genetics	Clinical Features: E, T, P, F Co-segregation: mRNA study: Functional study: Comments:
130588915	Exon 4	Deletion	c.397del	p.Val133Serfs*30	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588919	Exon 4	Silent	c.393G>C	p.Pro131Pro	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: No predicted effect on splicing. (Edinburgh)
130588920	Exon 4	Deletion	c.392del	p.Pro131Argfs*32	Pathogenic	2	Wehner (2006) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588920	Exon 4	Missense	c.392C>T	p.Pro131Leu	Benign	8	Cymerman (2003) Letteboer (2005) Abdalla (2005) Brusgaard (2004) Kjeldsen (2005) Fernandez (2006) ARUP Laboratories Fontalba (2008) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T G P Co-segregation: mRNA study: Functional study: get the article from print out add ref Comments: Variant has been found in unaffected individuals and in affected individuals with an additional pathogenic mutation. PolyPhen 2, SIFT and Mutation Taster predict it is benign.
130588924	Exon 4	Missense	c.388C>T	p.Pro130Ser	Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Weakly conserved. Pt has a pathogenic variant in ACVRL1. (Edinburgh)
130588924	Exon 4	Missense	c.388C>A	p.Pro130Thr	Pending classification	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588938	Exon 4	Missense	c.374T>C	p.Val125Ala	Uncertain	1	ARUP Laboratories	Clinical Features: E P Co-segregation: mRNA study: Functional study: Comments:
130588938	Exon 4	Missense	c.374T>A	p.Val125Asp	Pathogenic	3	Paquet (2001) Bossler (2006) Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588942	Exon 4	Deletion	c.370del	p.Leu124Trpfs*39	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588951	Exon 4-7	Large Deletion	EX4_7del		Pathogenic	1	ARUP Laboratories	Clinical Features: E G P F Co-segregation: mRNA study: Functional study: Comments: Deletion Exon 4-7
130588951	Exon 4-6	Large Deletion	EX4_6del		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: c.361-?_816+?del
130588952	Intron 3	Large Deletion	c.361-?_523+?del	Deletion Exon 5	Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588953	Intron 3	Splice Site	c.361-2A>G		Pathogenic	2	Shovlin (1997) Brusgaard (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588953	Intron 3	Splice Site	c.361-2A>C		Pathogenic	1	Kjeldsen (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130588965	Intron 3	Deletion	c.361-14del188		Pathogenic	1	IMPACT Genetics	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130589042	Intron 3	Intronic	c.361-91del		Pending classification	1	Shoukier(2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130589060	Intron 3	Intronic	c.361-109_361-106del		Benign	1	Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Found with pathogenic p.Leu572* variant. Previous reported as c.361-113.109delTTCT
130591875	Intron 3	Intronic	c.360+91C>T		Benign	2	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130591945	Intron 3	Intronic	c.360+21C>T		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591961	Intron 3	Splice Site	c.360+5G>T		Pending classification	1	Lux (2013)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591961	Intron 3	Splice Site	c.360+5G>A		Suspected Pathogenic	2	Letteboer (2005) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591961	Intron 3	Splice Site	c.360+5G>C		Suspected Pathogenic	2	Gedge (2007) ARUP Laboratories	Clinical Features: E C F Co-segregation: mRNA study: Functional study: Comments:
130591962	Intron 3	Splice Site	c.360+4_360+7del		Pathogenic	3	ARUP Laboratories Gedge (2007) Olivieri (2007) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments: Abnormal RNA species confirmed.
130591962	Intron 3	Splice Site	c.360+4A>G		Pending classification	2	Shovlin (1997) Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Author published as: p.Gly74_Tyr120del
130591963	Intron 3	Duplication	c.360+3dup		Pending classification	1	Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591965	Intron 3	Splice Site	c.360+1G>T		pathogenic	1	IMPACT Genetics	Clinical Features: P, E, T Co-segregation: mRNA study: Functional study: Comments:
130591965	Intron 3	Splice Site	c.360+1del		Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591965	Intron 3	Splice Site	c.360+1G>C		Pathogenic	1	Dakeishi (2002) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591965	Intron 3	Splice Site	c.360+1G>A		Pathogenic	14	Pece (1997) Cymerman (2000) Cymerman (2003) Letteboer (2005) Bayrak-Toydemir (2004) Schulte (2005) Bayrak-Toydemir (2006) Bossler (2006) Olivieri (2007) ARUP Laboratories Kim(2011) Nishida (2012) Submitted by Edinburgh Laboratories (2013)	Clinical Features: E C P T Co-segregation: 5 individuals, 3 individuals mRNA study: Functional study: Comments:
130591966	Exon 3	Silent	c.360C>T	p.Tyr120Tyr	Suspected Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591966	Exon 3	Nonsense	c.360C>A	p.Tyr120*	Pathogenic	3	Brusgaard (2004) Kjeldsen (2005) ARUP Laboratories	Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments:
130591982	Exon 3	Deletion	c.344del	p.Pro115Hisfs*48	Pathogenic	1	Argyriou(2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591988	Exon 3	Deletion	c.338del	p.Gly113Glufs*50	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591994	Exon 3	Deletion	c.332_338del	p.Ala111Glufs*50	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591995	Exon 3	Missense	c.331G>A	p.Ala111Thr	Uncertain	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130591998	Exon 3	Nonsense	c.328C>T	p.Gln110*	Pathogenic		Personal communication with the Department of Genetics School of Medicine University of Pennsylvania	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592000	Exon 3	Deletion	c.326_327del	p.Leu109Profs*39	Pathogenic	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592002	Exon 3	Duplication	c.324dup	p.Leu109Serfs*40	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592006	Exon 3	Missense	c.320T>G	p.Leu107Arg	Pending classification	1	Lesca (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592012	Exon 3	Missense	c.314T>A	p.Val105Asp	Pending classification	2	Bossler (2006) Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592017	Exon 3	Deletion	c.309_311del	p.Ser104del	Pathogenic	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592036	Exon 3	Missense	c.290T>G	p.Leu97Arg	Pathogenic	3	Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.01 NOT tolerated
130592039	Exon 3	Missense	c.287T>C	p.Leu96Pro	Pending classification	1	Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592049	Exon 3	Deletion	c.277del	p.Arg93Glufs*9	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592049	Exon 3	Nonsense	c.277C>T	p.Arg93*	Pathogenic	14	Cymerman (2000) Letteboer (2005) Brusgaard (2004) Bossler (2006) Lesca (2006) Olivieri (2006) Gedge (2007) Olivieri (2007) ARUP Laboratories Nishida (2012) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T C P F Co-segregation: mRNA study: Functional study: Comments:
130592053	Exon 3	Nonsense	c.273G>A	p.Trp91*	Pathogenic	1	IMPACT Genetics	Clinical Features: E, T, F Co-segregation: mRNA study: Functional study: Comments:
130592053	Exon 3	Indel	c.273_274delinsAA	p.Trp91*	Pathogenic	2	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130592056	Exon 3	Duplication	c.270dup	p.Trp91Leufs*58	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592068	Exon 3	Duplication	c.258_276dup	p.Arg93Alafs*62	Pathogenic	1	Brusgaard (2004)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592079	Exon 3	Nonsense	c.247C>T	p.Gln83*	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592092	Exon 3	Silent	c.234G>A	p.Leu78Leu	Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592097	Exon 3	Nonsense	c.229C>T	p.Gln77*	Pathogenic	8	Lastella (2003) Brusgaard (2004) Abdalla (2003) Bayrak-Toydemir (2004) Zhang (2004) Dakeishi (2002) Sanz-Rodriguez (2004) Lenato (2006) Prigoda (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130592101	Exon 3	Silent	c.225G>A	p.Pro75Pro	Benign	2	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130592102	Exon 3	Deletion	c.224del	p.Pro75Argfs*6	Pathogenic	1	ARUP Laboratories	Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments:
130592106	Exon 3-8	Large Duplication	EX3_8dup		Pathogenic	2	Bourdeau (2000) Mutize (2020) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: De novo mutation in a newborn with 2 fatal CAVM (Letartte)
130592106	Exon 3-8	Large Deletion	EX3_8del		Pathogenic	1	ARUP Laboratories	Clinical Features: E F Co-segregation: mRNA study: Functional study: Comments:
130592106	Exon 3-4	Large Deletion	EX3_4del		Pathogenic	1	ARUP Laboratories	Clinical Features: E G P Co-segregation: mRNA study: Functional study: Comments:
130592106	Exon 3	Large Duplication	EX3dup		Pathogenic	2	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130592106	Exon 3	Large Deletion	EX3del		Pathogenic	1	ARUP Laboratories Bossler (2006)	Clinical Features: E T H F Co-segregation: mRNA study: Functional study: Comments: c.220-?_360+?del
130592107	Intron 2	Splice Site	c.220-18C>A		Pending classification	1	Personal communication with UPenn	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Mild HHT, 4 Curacao criteria met
130592108	Intron 2	Splice Site	c.220-2A>G		Pathogenic	1	ARUP Laboratories	Clinical Features: E T C H P Co-segregation: mRNA study: Functional study: Comments:
130605348	Intron 2	Intronic	c.219+25G>T		Benign	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605348	Intron 2	Intronic	c.219+25G>A		Benign	1	Gedge (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605351	Intron 2	Intronic	c.219+22_219+23delinsGA		Suspected Benign	1	ARUP Laboratories Gedge (2007)	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130605351	Intron 2	Intronic	c.219+22C>T		Benign	1	Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605368	Intron 2	Splice Site	c.219+5G>C		Pending classification	1	Lesca (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605372	Intron 2	Splice Site	c.219+1G>T		Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605373	Exon 2	Splice Site	c.219G>A	p.Thr73Thr	Pathogenic	2	Gedge (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Exon 2 deletion confirmed by cDNA PCR and sequencing.
130605378	Exon 2	Deletion	c.214_215del	p.Pro72Asnfs*76	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605380	Exon 2	Deletion	c.212_219+6del	p.Phe71Trpfs*75	Pathogenic	2	Fontalba (2008)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605382	Exon 2	Deletion	c.210del	p.Glu70Aspfs*11	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605385	Exon 2	Silent	c.207G>A	p.Leu69Leu	Benign	19	Shovlin (1997) Lastella (2003) Lesca (2004) Lenato (2006) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T G C P F Co-segregation: mRNA study: Functional study: Comments:
130605397	Exon 2	Duplication	c.195dup	p.Val66Cysfs*83	Pathogenic	4	Lesca (2004) Schulte (2005) Lesca (2006) Yan(2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605413	Exon 2	Indel	c.179_180delinsAA	p.Ala60Glu	Uncertain	2	ARUP Laboratories	Clinical Features: E G F Co-segregation: mRNA study: Functional study: Comments: Originally reported as c.179-180CC>AA
130605426	Exon 2	Nonsense	c.166C>T	p.Gln56*	Pathogenic	3	Bossler (2006) Argyriou(2006) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130605428	Exon 2	Deletion	c.164del	p.Ala55Valfs*26	Pathogenic	1	ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments:
130605433	Exon 2	Nonsense	c.159C>A	p.Cys53*	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605435	Exon 2	Missense	c.157T>C	p.Cys53Arg	Pathogenic	4	Gallione (1998) Pece-Barbara (1999) Cymerman (2000) Bayrak-Toydemir (2004) Karabegovic (2004) Bayrak-Toydemir (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605435	Exon 2	Deletion	c.157del	p.Cys53Alafs*28	Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605437	Exon 2	Missense	c.155G>T	p.Gly52Val	Pathogenic	1	Gallione (1998) Pece-Barbara (1999)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605437	Exon 2	Missense	c.155G>A	p.Gly52Asp	Pathogenic	3	Paquet (2001) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605438	Exon 2	Missense	c.154G>C	p.Gly52Arg	Pending classification	1	Wehner (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605446	Exon 2	Deletion	c.146_152del	p.Val49Glyfs*30	Pathogenic	1	IMPACT Genetics	Clinical Features: 4 yo with P, E and F Co-segregation: mRNA study: Functional study: Comments:
130605446	Exon 2	Indel	c.144_146delinsAG	p.Val49Aspfs*32	Pathogenic	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605447	Exon 2	Missense	c.145G>T	p.Val49Phe	Pathogenic	5	Lesca (2004) Olivieri (2007) ARUP Laboratories Nishida (2012) Submitted by Edinburgh Laboratories 2013	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130605450	Exon 2	Nonsense	c.142C>T	p.Gln48*	Pathogenic	1	Letteboer (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605471	Exon 2	Missense	c.121G>A	p.Glu41Lys	Pending classification	2	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: 4/4 programmes predict non-pathogenic (PolyPhen2 score 0.006, SIFT predicts tolerated). Residue is a lysine in pig, horse and others on polyphen conservation table. Does improve a cryptic splice site, which has better score than the natural one. (Edinburgh)
130605471	Exon 2	Nonsense	c.121G>T	p.Glu41*	Pathogenic	1	Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605472	Exon 2	Silent	c.120C>T	p.Gly40Gly	Benign	8	ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: E T G H P F Co-segregation: mRNA study: Functional study: Comments:
130605477	Exon 2	Deletion	c.115del	p.Arg39Glyfs*4	Pathogenic	2	Cymerman (2003) ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130605481	Exon 2	Deletion	c.111del	p.Glu38Argfs*5	Pathogenic	1	ARUP Laboratories	Clinical Features: T P Co-segregation: mRNA study: Functional study: Comments:
130605485	Exon 2	Deletion	c.107del	p.Gly36Alafs*7	Pathogenic	1	Schulte (2005)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605487	Exon 2	Duplication	c.105_108dup	p.Pro37Glyfs*12	Pathogenic		Torring (2014)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605495	Exon 2	Nonsense	c.97C>T	p.Gln33*	Pathogenic	2	Lenato (2006) Olivieri (2007) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605496	Exon 2	Deletion	c.96_102del	p.Gln33Trpfs*8	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605497	Exon 2	Missense	c.95T>G	p.Leu32Arg	Pending classification	5	Paquet (2001) Lin (2000) Bossler (2006) Giordano (2006) Gedge (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605497	Exon 2	Missense	c.95T>A	p.Leu32His	Pending classification	2	Gedge (2007) ARUP Laboratories	Clinical Features: E T G F Co-segregation: mRNA study: Functional study: Comments: SIFT score 0.00 NOT tolerated
130605502	Exon 2	Nonsense	c.90T>A	p.Cys30*	Pathogenic	1	Berg (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605515	Exon 2	Deletion	c.77del	p.Thr27Glnfs*16	Pathogenic	1	Olivieri (2007)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605524	Exon 2	Splice Site	c.68G>A	p.Ser23Asn	Pending classification	3	Shovlin (1997) Fernandez (2005) Fernandez (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605524	Exon 2-10	Large Deletion	EX2_10del		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Deletion Exon 2-10
130605524	Exon 2-9	Large Deletion	Ex2_9del		Pathogenic	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: c.68-?_?del
130605524	Exon 2-8	Large Duplication	EX2_8dup		Pathogenic	1	ARUP Laboratories	Clinical Features: E C Co-segregation: mRNA study: Functional study: Comments: Duplication Exon 2-8
130605524	Exon 2-4	Large Duplication	EX2_4dup		Pathogenic	1	Prigoda (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Author published as: c.68_523dup p.G23_Q174dup
130605525	Intron 1	Splice Site	c.68-1G>A		Pathogenic	2	Lesca (2004) Bossler (2006) ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130605542	Intron 1	Intronic	c.68-18C>A		Pending classification	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616520	Intron 1	Intronic	c.67+48G>A		Pending classification	1	Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616543	Intron 1	Intronic	c.67+25G>T		Pending classification	2	Lastella (2003) Lenato (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616563	Intron 1	Splice Site	c.67+5G>A		Pending classification	3	Prigoda (2006) Shovlin (1997) Cymerman (2003)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Proband's brother & father had PAVMs,Author published as: c.68_219del p.Ser23fs
130616565	Intron 1	Splice Site	c.67+3A>T		Pending classification	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616566	Intron 1	Splice Site	c.67+2T>G		Pathogenic	1	Nishida (2012)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616566	Intron 1	Splice Site	c.67+2del		Pathogenic	2	ARUP Laboratories	Clinical Features: E T P Co-segregation: mRNA study: Functional study: Comments:
130616567	Intron 1	Splice Site	c.67+1G>A		Pathogenic	3	Gallione (2000) Letteboer (2005) Giordano (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616568	Exon 1	Deletion	c.67del	p.Ser23Valfs*20	Pathogenic	2	ARUP Laboratories	Clinical Features: E Co-segregation: mRNA study: Functional study: Comments:
130616572	Exon 1	Deletion	c.63del	p.Thr22Glnfs*21	Pathogenic	4	Lastella (2003) Abdalla (2005) Lenato (2006) Giordano (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616594	Exon 1	Duplication	c.41_51dup	p.Ser18Trpfs*29	Pathogenic	3	Gedge (2007) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: de novo mutation
130616594	Exon 1	Missense	c.41T>C	p.Leu14Pro	Pathogenic	1	ARUP Laboratories	Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments:
130616600	Exon 1	Missense	c.35T>C	p.Leu12Pro	Uncertain	2	ARUP Laboratories	Clinical Features: E T Co-segregation: mRNA study: Functional study: Comments:
130616603	Exon 1	Missense	c.32C>A	p.Ala11Asp	Pending classification	1	Bossler (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616610	Exon 1	Duplication	c.24_34dup	p.Leu12Argfs*35	Pathogenic	2	Bayrak-Toydemir (2006) Gedge (2007) ARUP Laboratories	Clinical Features: E T P F Co-segregation: mRNA study: Functional study: Comments: Previously reported as c.34_35insGGCTGTTGCCC; p.L12fsX18
130616612	Exon 1	Missense	c.23T>C	p.Leu8Pro	Pathogenic	7	Lesca (2004) ARUP Laboratories McDonald (2009)	Clinical Features: E T P F Co-segregation: Affected father and sibling Affected nephew, symptomatic mother mRNA study: Functional study: Comments:
130616621	Exon 1	Missense	c.14C>T	p.Thr5Met	Benign	10	Shovlin (1997) Lastella (2003) Abdalla (2005) Lenato (2006) ARUP Laboratories Fontalba (2008)	Clinical Features: E T G H P F Co-segregation: mRNA study: Functional study: Comments:
130616624	Exon 1	Deletion	c.11del	p.Gly4Alafs*39	Pathogenic	1	IMPACT Genetics	Clinical Features: affected by report Co-segregation: mRNA study: Functional study: Comments:
130616628	Exon 1	Missense	c.7C>T	p.Arg3Cys	Uncertain	3	Submitted by Edinburgh Laboratories 2013 ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments: Weakly conserved aa. High Grantham score 180. Polyphen2 possibly damaging with a score of 0.775, Align GVGD Class C65. (Edinburgh)
130616632	Exon 1	Missense	c.3G>A	p.Met1?	Suspected Pathogenic	1	ARUP Laboratories	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616633	Exon 1	Missense	c.2T>G	p.Met1?	Pathogenic	4	Lesca (2004) Berg (2003) Lastres (1994) ARUP Laboratories	Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments:
130616633	Exon 1	Missense	c.2T>C	p.Met1?	Pathogenic	4	Gallione (1998) Cymerman (2000) Bayrak-Toydemir (2006) Giordano (2006)	Clinical Features: Co-segregation: mRNA study: Functional study: Comments:
130616634	Exon 1	Large Deletion	EX1del		Pathogenic	3	ARUP Laboratories Submitted by Edinburgh Laboratories 2013 Lesca (2006) Bossler (2006) Argyriou (2008)	Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: c.1_67del, c.-?_67+?del, c.-?_360+?del
130616634	Exon 1	Missense	c.1A>G	p.Met1?	Pathogenic	3	Letteboer (2005) Lenato (2006) Gedge (2007) ARUP Laboratories	Clinical Features: E T F Co-segregation: mRNA study: Functional study: Comments:
130616643	5'UTR	Regulatory	c.-9G>A		Pathogenic-Mild	7	Gedge (2007) ARUP Laboratories Damjanovich (2011)	Clinical Features: E T G F Co-segregation: One proband with 2 affected first degree relatives One proband with 1 affected second degree relative mRNA study: Functional study: Comments: (hypomorphic allele)
130616644	5'UTR	Regulatory	c.-10C>T		Pathogenic	4	Bossler (2006) ARUP Laboratories Submitted by Edinburgh Laboratories 2013	Clinical Features: P Co-segregation: mRNA study: Functional study: Comments: Reclassified as Pathogenic, January 2013.
130616761	5'UTR	Regulatory	c.-127C>T		Pathogenic	6	Kim (2011) Damjanovich (2011) ARUP Laboratories	Clinical Features: Co-segregation: 5affecteds, 6affecteds/1unaffected, 1affected/2unaffected mRNA study: Functional study: Comments:

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