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


500 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
130578106 Intron 14 Deletion c.1853-21_1853-26del Pending classification 1 Submitted by Edinburgh Laboratories 2013
130578230 Exon 14 Missense c.1844C>T p.Ser615Leu Benign 6 Kuehl (2005)
Bossler (2006)
Gedge (2007)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130578263 Exon 14 Missense c.1811C>A p.Ala604Asp Pending classification 2 Bossler (2006)
Submitted by Edinburgh Laboratories 2013
130578280 Exon 14 Silent c.1794T>G p.Gly598Gly Benign 1 Abdalla (2005)
ARUP Laboratories
130578280 Exon 14 Silent c.1794T>C p.Gly598Gly Benign 8 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130578312 Exon 14 Missense c.1762G>T p.Val588Phe Pending classification 1 Submitted by Edinburgh Laboratories 2013
130578312 Exon 14 Missense c.1762G>A p.Val588Ile Pending classification 1 Submitted by Edinburgh Laboratories 2013
130578332 Exon 14-15 Large Deletion EX14-15del Pathogenic 1 ARUP Laboratories
130578363 Intron 13 Intronic c.1742-31T>C Benign 1 Gedge (2007)
ARUP Laboratories
130578380 Intron 13 Splice Site c.1742-48_1743del Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130578404 Intron 13 Intronic c.1742-72T>C Benign 3 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
Smoot (2009)
130579349 Intron 13 Intronic c.1741+79G>A Benign 1 ARUP Laboratories
130579393 Intron 13 Intronic c.1741+35G>A Benign 1 ARUP Laboratories
130579431 Exon 13 Duplication c.1738_1741dup p.Gly581Valfs*171 Pathogenic 1 Abdalla (2005)
130579436 Exon 13 Deletion c.1733_1737del p.Asp578Valfs*171 Pathogenic 1 Bossler (2006)
ARUP Laboratories
130579439 Exon 13 Deletion c.1730_1731del p.Pro577Argfs*173 Pathogenic 2 ARUP Laboratories
130579443 Exon 13 Missense c.1726A>G p.Ser576Gly Benign 2 ARUP Laboratories
McDonald (2009)
130579445 Exon 13 Missense c.1724T>C p.Ile575Thr Pending classification 2 Lastella (2003)
Lenato (2006)
130579448 Exon 13 Missense c.1721T>C p.Ile574Thr Pending classification 1 Submitted by Edinburgh Laboratories 2013
130579454 Exon 13 Nonsense c.1715T>A p.Leu572* Pathogenic 1 Paquet (2001)
ARUP Laboratories
130579457 Exon 13 Missense c.1712G>A p.Arg571His Suspected Benign 8 ARUP Laboratories
McDonald (2009)
130579457 Exon 13 Deletion c.1712del p.Arg571Profs*2 Pathogenic 1 Schulte (2005)
130579462 Exon 13 Deletion c.1707del p.Phe569Leufs*4 Pathogenic 1 ARUP Laboratories
130579471 Exon 13 Deletion c.1698del p.Thr567Leufs*6 Pathogenic 2 Bossler (2006)
Nishida (2012)
130579480 Exon 13 Deletion c.1689_1699del p.Glu563Aspfs*12 Pathogenic 1 Paquet (2001)
ARUP Laboratories
130579482 Exon 13 Nonsense c.1687G>T p.Glu563* Pathogenic 1 ARUP Laboratories
130579482 Exon 13 Deletion c.1687del p.Glu563Lysfs*10 Pathogenic 2 Bossler (2006)
ARUP Laboratories
130579482 Exon 13 Large Duplication EX13dup Pathogenic 1 Bossler (2006)
130579484 Intron 12 Splice Site c.1687-2A>G Pathogenic 1 Wehner (2006)
130579489 Intron 12 Splice Site c.1687-7C>T Benign 1 ARUP Laboratories
130580300 Intron 12 Intronic c.1686+99T>A Benign 1 ARUP Laboratories
130580393 Intron 12 Splice Site c.1686+6T>G Pending classification 1 Submitted by Edinburgh Laboratories 2013
130580394 Intron 12 Splice Site c.1686+5G>C Pending classification 4 Fontalba (2008)
130580397 Intron 12 Splice Site c.1686+2T>C Pathogenic 1 Lenato (2006)
130580398 Intron 12 Splice Site c.1686+1insTCTG Pathogenic 1 IMPACT Genetics
130580398 Intron 12 Splice Site c.1686+1del Pathogenic 2 Fontalba (2008)
130580401 Exon 12 Nonsense c.1684C>T p.Gln562* Pathogenic 2 Letteboer (2005)
Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
130580407 Exon 12 Nonsense c.1678C>T p.Gln560* Pathogenic 1 Letteboer (2005)
130580413 Exon 12 Duplication c.1672_1684dup p.Gln562Argfs*9 Pathogenic 1 Olivieri (2007)
130580413 Exon 12 Deletion c.1672_1684del p.Gly558Argfs*11 Pathogenic 1 Paquet (2001)
130580414 Exon 12 Silent c.1671C>T p.Thr557Thr Benign 2 ARUP Laboratories
130580424 Exon 12 Duplication c.1661_1664dup p.Lys556Serfs*12 Pathogenic 1 Nishida (2012)
130580428 Exon 12 Deletion c.1657del p.Leu553Cysfs*20 Pathogenic 4 McAllister (1995)
Gallione (1998)
McAllister (1995)
ARUP Laboratories
130580439 Exon 12 Missense c.1646G>A p.Cys549Tyr Pathogenic 2 ARUP Laboratories
130580445 Exon 12 Missense c.1640T>G p.Leu547Arg Pathogenic 1 ARUP Laboratories
130580445 Exon 12 Missense c.1640T>C p.Leu547Pro Pending classification 1 Bossler (2006)
130580451 Exon 12 Missense c.1634G>A p.Gly545Asp Uncertain 2 Argyriou(2006)
ARUP Laboratories
130580452 Exon 12 Missense c.1633G>A p.Gly545Ser Uncertain 2 Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
130580455 Exon 12 Deletion c.1630del p.Thr544Profs*8 Pathogenic 1 Abdalla (2005)
130580460 Exon 12 Duplication c.1625_1626dup p.Lys543Profs*10 Pathogenic 1 Bossler (2006)
130580462 Exon 12 Duplication c.1623_1624dup p.Pro542Hisfs*11 Pathogenic 1 Lesca (2004)
130580474 Exon 12 Nonsense c.1611C>A p.Tyr537* Pathogenic 1 Letteboer (2005)
130580476 Exon 12 Deletion c.1609del p.Tyr537Thrfs*15 Pathogenic 1 Lesca (2004)
130580490 Exon 12 Missense c.1595T>C p.Phe532Ser Uncertain 2 Gedge (2007)
ARUP Laboratories
130580499 Exon 12 Missense c.1586G>A p.Arg529His Pathogenic 3 Bossler (2006)
Gedge (2007)
Nishida (2012)
ARUP Laboratories
130580500 Exon 12 Missense c.1585C>T p.Arg529Cys Uncertain 1 ARUP Laboratories
130580502 Exon 12 Duplication c.1583dup p.Arg529Alafs*38 Pathogenic 1 Bossler (2006)
130580503 Exon 12 Deletion c.1582_1583del p.Pro528Alafs*38 Pathogenic 3 Submitted by Edinburgh Laboratories 2013
Torring (2014)
130580531 Exon 12 Deletion c.1554_1555del p.Leu519Alafs*8 Pathogenic 1 Bossler (2006)
130580532 Exon 12 Deletion c.1553_1554del p.Ser518Thrfs*9 Pathogenic 2 McAllister (1994)
Lastres (1994)
130580535 Exon 12 Deletion c.1550_1551del p.Val517Glufs*10 Pathogenic 2 McAllister (1995)
Olivieri (2007)
ARUP Laboratories
130580559 Exon 12 Deletion c.1526del p.Gly509Alafs*9 Pathogenic 1 Schulte (2005)
130580563 Exon 12 Nonsense c.1522C>T p.Gln508* Pathogenic 1 Lesca (2004)
ARUP Laboratories
130580572 Exon 12 Nonsense c.1513G>T p.Glu505* Pathogenic 1 Lenato (2006)
130580575 Exon 12 Missense c.1510G>A p.Val504Met Suspected Benign 3 Lesca (2004)
Brusgaard (2004)
McDonald (2009)
Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
130580576 Exon 12 Deletion c.1509del p.Val504Trpfs*14 Pathogenic 1 ARUP Laboratories
130580584 Exon 12 Nonsense c.1501G>T p.Gly501* Pathogenic 1 IMPACT Genetics
130580589 Exon 12 Duplication c.1496dup p.Glu500* Pathogenic 1 IMPACT Genetics
130580605 Exon 12 Deletion c.1480del p.His494Thrfs*24 Pathogenic 1 Gedge (2007)
130580607 Exon 12 Deletion c.1478del p.Cys493Serfs*25 Pathogenic 1 Olivieri (2006)
130580609 Exon 12 Duplication c.1476dup p.Cys493Leufs*8 Pathogenic 1 Gedge (2007)
ARUP Laboratories
130580615 Exon 12 Insertion c.1470_1471insGGGTG p.Asp491Glyfs*29 Pathogenic 1 Gedge (2007)
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
130580616 Exon 12 Nonsense c.1469T>G p.Leu490* Pathogenic 1 Lesca (2004)
130580616 Exon 12 Missense c.1469T>C p.Leu490Ser Pending classification 1 Bossler (2006)
130580620 Exon 12 Deletion c.1465_1466del p.Gln489Valfs*11 Pathogenic 1 Nishida (2012)
130580633 Exon 12 Silent c.1452C>T p.Ser484Ser Suspected Benign 2 ARUP Laboratories
130580640 Exon 12 Missense c.1445C>T p.Ser482Phe Pending classification 1 Gedge (2007)
130580651 Exon 12 Deletion c.1434_1435del p.Arg478Serfs*22 Pathogenic 3 Gallione (1998)
Letteboer (2005)
Schulte (2005)
130580657 Intron 11 Splice Site c.1429-1G>A Pathogenic 4 Schulte (2005)
ARUP Laboratories
130580665 Intron 11 Splice Site c.1429-9C>G Pending classification 1 Submitted by Edinburgh Laboratories 2013
130580993 Intron 11 Splice Site c.1428+2T>C Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130580993 Intron 11 Splice Site c.1428+2T>G Pathogenic 1 Bossler (2006)
130580994 Intron 11 Splice Site c.1428+1G>A Pathogenic 6 ARUP Laboratories
Nishida (2012)
130580995 Exon 11 Splice Site c.1428G>C p.Gln476His Pending classification 1 Wehner (2006)
130580995 Exon 11 Splice Site c.1428G>A p.Gln476Gln Pending classification 1 Lesca (2004)
130580997 Exon 11 Missense c.1426C>A p.Gln476Lys Likely Benign Personal communication with Dr. Pernille Torring (Danish group)
130581008 Exon 11 Indel c.1415_1417delinsGT p.Gln472Argfs*19 Pathogenic 3 Cymerman (2000)
Paquet (2001)
Gedge (2007)
ARUP Laboratories
130581009 Exon 11 Nonsense c.1414C>T p.Gln472* Pathogenic 4 McAllister (1995)
Pece (1997)
Bayrak-Toydemir (2006)
Fontalba (2008)
130581013 Exon 11 Deletion c.1410del p.Gln471Serfs*20 Pathogenic 1 Lesca (2004)
130581016 Exon 11 Silent c.1407G>A p.Pro469Pro Benign 2 Gedge (2007)
ARUP Laboratories
130581025 Exon 11 Deletion c.1398del p.Ile467Serfs*24 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130581027 Exon 11 Missense c.1396A>C p.Thr466Pro Uncertain 1 ARUP Laboratories
130581031 Exon 11 Duplication c.1392dup p.Asn465Glnfs*36 Pathogenic 1 Lesca (2004)
130581049 Exon 11 Silent c.1374A>G p.Pro458Pro Benign 13 Bossler (2006)
Prigoda (2006)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130581058 Exon 11 Nonsense c.1365C>T p.Tyr455Tyr Pending classification 1 Fontalba (2008)
130581062 Exon 11 Duplication c.1361dup p.Tyr455Leufs*46 Pathogenic 1 Lesca (2004)
130581073 Exon 11 Silent c.1350C>T p.Phe450Phe Pending classification 1 Bossler (2006)
130581076 Exon 11 Deletion c.1347_1350del p.Phe450Serfs*40 Pathogenic 4 Cymerman (2000)
Bossler (2006)
Nishida (2012)
130581077 Exon 11 Duplication c.1346_1347dup p.Phe450Leufs*42 Pathogenic 2 Prigoda (2006)
Lee (2011)
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
130581089 Exon 11 Deletion c.1334del p.Met445Argfs*46 Pathogenic 1 Harrison (2003)
130581105 Exon 11 Missense c.1318G>A p.Val440Met Pending classification 1 Submitted by Edinburgh Laboratories 2013
130581106 Exon 11 Insertion c.1317_1318insA p.Val440Serfs*61 Pathogenic 1 Letteboer (2005)
130581108 Exon 11 Duplication c.1315_1322dup p.His441Glnfs*53 Pathogenic 1 Argyriou(2006)
130581111 Exon 11 Indel c.1312_1341delinsCTGGGC p.Lys438_Ala658delins43 Pending classification 1 Submitted by Edinburgh Laboratories 2013
130581114 Intron 10 Splice Site c.1312-3C>G Pending classification 1 Submitted by Edinburgh Laboratories 2013
130581177 Intron 10 Intronic c.1312-66C>A Benign 1 ARUP Laboratories
130581812 Intron 10 Intronic c.1311+89C>T Benign 1 ARUP Laboratories
130581896 Intron 10 Splice Site c.1311+5G>A Pending classification 1 Submitted by Edinburgh Laboratories 2013
130581899 Intron 10 Splice Site c.1311+2T>C Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130581899 Intron 10 Splice Site c.1311+2T>G Pathogenic 4 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130581899 Intron 10 Splice Site c.1311+2T>A Pathogenic 1 Cymerman (2000)
ARUP Laboratories
130581900 Intron 10 Splice Site c.1311+1G>A Pathogenic 1 IMPACT Genetics
130581900 Intron 10 Splice Site c.1311+1dup Suspected Pathogenic 1 Gedge (2007)
ARUP Laboratories
130581901 Exon 10 Splice Site c.1311G>T p.Arg437Arg Suspected Pathogenic 1 ARUP Laboratories
130581901 Exon 10 Splice Site c.1311G>C p.Arg437Arg Pending classification 1 Gallione (1998)
130581901 Exon 10 Splice Site c.1311G>A p.Arg437Arg Pending classification 2 Letteboer (2005)
Bossler (2006)
130581901 Exon 10 Deletion c.1311del p.Lys439Argfs*52 Pathogenic 1 Letteboer (2005)
130581902 Exon 10 Missense c.1310G>A p.Arg437Gln Pathogenic 1 ARUP Laboratories
130581903 Exon 10 Missense c.1309C>G p.Arg437Gly Pending classsification Torring (2014)
130581903 Exon 10 Missense c.1309C>T p.Arg437Trp Pathogenic 4 Bossler (2006)
Gedge (2007)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130581906 Exon 10 Nonsense c.1306C>T p.Gln436* Pathogenic 2 Lenato (2006)
ARUP Laboratories
130581914 Exon 10 Nonsense c.1298C>G p.Ser433* Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130581920 Exon 10 Nonsense c.1292C>A p.Ser431* Pathogenic 1 Bossler (2006)
130581935 Exon 10 Missense c.1277T>G p.Val426Gly Uncertain 1 ARUP Laboratories
130581940 Intron 9 Splice Site c.1273-1G>C Pathogenic 1 Bossler (2006)
130581940 Intron 9 Splice Site c.1273-1G>A Pathogenic 1 Kjeldsen (2005)
130581941 Intron 9 Splice Site c.1273-2A>G Pathogenic 2 Bossler (2006)
ARUP Laboratories
130581943 Intron 9 Splice Site c.1273-4G>A Uncertain 1 Prigoda (2006)
ARUP Laboratories
130582169 Intron 9 Splice Site c.1272+10G>A Pending classification 1 Submitted by Edinburgh Laboratories 2013
130582183 Exon 9 Missense c.1268A>G p.Asn423Ser Uncertain 1 ARUP Laboratories
130582183 Exon 9 Deletion c.1268del p.Asn423Metfs*68 Pathogenic 9 ARUP Laboratories
Gallione (1998)
Abdalla (2005)
Gedge (2007)
Submitted by Edinburgh Laboratories 2013
130582196 Exon 9 Deletion c.1255del p.Ser419Valfs*2 Pathogenic 1 Letteboer (2005)
130582208 Exon 9 Nonsense c.1243C>T p.Gln415* Pathogenic 1 Wehner (2006)
130582213 Exon 9 Missense c.1238G>T p.Gly413Val Pending classification 2 Gallione (2000)
Letteboer (2005)
130582216 Exon 9 Missense c.1235G>A p.Cys412Tyr Uncertain 2 Gedge (2007)
ARUP Laboratories
130582217 Exon 9 Missense c.1234T>A p.Cys412Ser Pending classification 1 Lesca (2004)
130582220 Exon 9 Deletion c.1231_1233del p.Ser411del Pending classification 1 Paquet (2001)
130582231 Exon 9 Missense c.1220G>T p.Ser407Ile Pending classification 1 Submitted by Edinburgh Laboratories 2013
130582231 Exon 9 Missense c.1220G>A p.Ser407Asn Pending classification 3 Paquet (2001)
Wehner (2006)
Nishida (2012)
130582236 Exon 9 MIssense c.1215G>C p.Leu405Phe Pending classification 2 Submitted by Edinburgh Laboratories 2013
IMPACT Genetics
130582238 Exon 9 Insertion c.1213_1214ins11 p.Leu405fs Pathogenic 1 Lesca (2004)
130582245 Exon 9 Deletion c.1206del p.Lys402Asnfs*19 Pathogenic 1 Gallione (1998)
130582252 Exon 9 Deletion c.1199del p.Gly400Valfs*21 Pathogenic 1 Cymerman (2003)
Lesca (2004)
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
130582261 Exon 9 Duplication c.1190_1191dup p.Asp398Argfs*24 Pathogenic 2 Lenato (2006)
Giordano (2006)
130582265 Exon 9 Deletion c.1186del p.Ala396Glnfs*25 Pathogenic 1 Cymerman (2000)
ARUP Laboratories
130582275 Exon 9 Nonsense c.1176del p.Ser393Alafs*28 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
130582282 Exon 9 Nonsense c.1169G>A p.Trp390* Pathogenic 3 ARUP Laboratories
Fontalba (2008)
130582285 Exon 9 Deletion c.1166_1168del p.Phe389del Pathogenic 2 Brusgaard (2004)
ARUP Laboratories
130582305 Exon 9 Missense c.1146C>G p.Cys382Trp Pending classification 2 Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
Bossler (2006)
130582305 Exon 9 Nonsense c.1146C>A p.Cys382* Pathogenic 1 ARUP Laboratories
130582307 Exon 9 Missense c.1144T>G p.Cys382Gly Uncertain 1 Olivieri (2007)
ARUP Laboratories
130582309 Exon 9 Insertion c.1142_1143insT p.Lys381Asnfs*15 Pathogenic 1 Letteboer (2005)
130582316 Exon 9-14 Large Deletion EX9_14del Pathogenic 3 ARUP Laboratories
130582316 Exon 9-13 Large Deletion EX9_13del Pathogenic 3 Shovlin (1997)
Cymerman (2003)
Lesca (2006)
130582316 Exon 9-10 Large Deletion EX9_10del Pathogenic 11 Bossler (2006)
ARUP Laboratories
130582316 Exon 9 Large Deletion EX9del Pathogenic 1 ARUP Laboratories
130586149 Intron 8 Intronic c.1134+164C>T Benign 1 ARUP Laboratories
130586490 Intron 8 Intronic c.1134+93G>T Benign 2 ARUP Laboratories
130586491 Intron 8 Intronic c.1134+92G>A Benign 1 ARUP Laboratories
130586529 Intron 8 Intronic c.1134+54C>T Pending classification 1 Gedge (2007)
130586579 Intron 8 Splice Site c.1134+4_1134+9del Pending classification 1 Lesca (2004)
130586582 Intron 8 Splice Site c.1134+1G>A Pathogenic 2 Abdalla (2005)
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)
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
130586593 Exon 8 Deletion c.1124_1125del p.Glu375Alafs*20 Pathogenic 1 Bossler (2006)
130586594 Exon 8 Nonsense c.1123G>T p.Glu375* Pathogenic 1 Abdalla (2005)
130586595 Exon 8 Duplication c.1122dup p.Glu375Argfs*21 Pathogenic 3 Submitted by Edinburgh Laboratories 2013
Cymerman (2003)
130586596 Exon 8 Deletion c.1121_1124del p.Lys374Serfs*6 Pathogenic 1 Dakeishi (2002)
130586596 Exon 8 Indel c.1121_1122delinsGC p.Lys374Ser Pathogenic 2 Letteboer (2005)
Gedge (2007)
ARUP Laboratories
130586598 Exon 8 Deletion c.1119_1121del p.Lys374del Uncertain 2 ARUP Laboratories
130586598 Exon 8 Deletion c.1119del p.Glu375Serfs*6 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130586600 Exon 8 Insertion c.1117_1118insT p.Lys373Ilefs*23 Pathogenic 1 Letteboer (2005)
130586605 Exon 8 Deletion c.1112_1134del p.Val371Alafs*17 Pathogenic 2 Lesca (2004)
Bayrak-Toydemir (2004)
130586606 Exon 8 Duplication c.1111dup p.Val371Glyfs*25 Pathogenic 3 McAllister (1995)
Pece (1997)
Cymerman (2000)
ARUP Laboratories
130586608 Exon 8 Missense c.1109T>C p.Leu370Pro Uncertain 1 ARUP Laboratories
130586609 Exon 8 Duplication c.1108dup p.Leu370Profs*26 Pathogenic 1 ARUP Laboratories
130586613 Exon 8 Deletion c.1104del p.Met368Ilefs*5 Pathogenic 1 IMPACT Genetics
130586619 Exon 8 Deletion c.1098_1120del p.Asp366Glufs*22 Pathogenic 1 Lenato (2006)
130586619 Exon 8 Insertion c.1098_1099insT p.Ala367Cysfs*29 Pathogenic 1 Lenato (2006)
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
130586622 Exon 8 Silent c.1095C>T p.Asp365Asp Suspected Benign 2 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130586628 Exon 8 Deletion c.1089_1090del p.Ala364Argfs*31 Pathogenic 1 Cymerman (2000)
130586629 Exon 8 Missense c.1088G>A p.Cys363Tyr Pending classification 2 Paquet (2001)
Bossler (2006)
130586630 Exon 8 Missense c.1087T>A p.Cys363Ser Suspected Pathogenic 3 Bossler (2006)
Gedge (2007)
Nishida (2012)
ARUP Laboratories
130586632 Exon 8 Deletion c.1085del p.Lys362Serfs*7 Pathogenic 1 Wehner (2006)
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)
130586639 Exon 8 Nonsense c.1078C>T p.Gln360* Pathogenic 2 Letteboer (2005)
ARUP Laboratories
130586641 Exon 8 Missense c.1076T>C p.Ile359Thr Pathogenic 2 ARUP Laboratories
130586657 Exon 8 Silent c.1060C>T p.Leu354Leu Benign 9 ARUP Laboratories
130586662 Exon 8 Missense c.1055C>T p.Pro352Leu Pending classification 1 Lastella (2003)
130586667 Exon 8 Nonsense c.1050T>A p.Cys350* Pathogenic 4 McAllister (1994)
McAllister (1995)
Pece (1997)
Letteboer (2005)
130586670 Exon 8 Duplication c.1047_1048dup p.Cys350Phefs*10 Pathogenic 1 Lesca (2004)
130586688 Exon 8 Silent c.1029C>T p.Thr343Thr Benign 12 Shovlin (1997)
Lesca (2004)
Lenato (2006)
ARUP Laboratories
130586698 Exon 8 Missense c.1019C>T p.Pro340Leu Suspected Benign 1 ARUP Laboratories
130586707 Exon 8 Nonsense c.1010C>G p.Ser337* Pathogenic 1 Olivieri (2007)
130586710 Exon 8 Insertion c.1007_1008insG p.Ser337Leufs*15 Pathogenic Torring (2014)
130586718 Exon 8 Silent c.999G>A p.Arg333Arg Pending classification 1 Submitted by Edinburgh Laboratories 2013
130586720 Exon 8 Deletion c.997_1001del p.Arg333Alafs*17 Pathogenic 1 ARUP Laboratories
130586722 Exon 8 Deletion c.995del p.Gly332Valfs*27 Pathogenic 2 Letteboer (2005)
Gedge (2007)
ARUP Laboratories
130586724 Exon 8 Deletion c.993_1134del p.Gly332Ilefs*2 Pathogenic 1 Shovlin (1997)
130586726 Intron 7 Splice Site c.992-1G>A Pathogenic 2 Lesca (2006)
Gedge (2007)
ARUP Laboratories
130586727 Intron 7 Splice Site c.992-2A>G Pathogenic 1 ARUP Laboratories
130586728 Intron 7 Splice Site c.992-3C>G Pathogenic 1 Nishida (2012)
ARUP Laboratories
130586750 Exon 8 Large Deletion EX8del Pathogenic 1 Lesca (2004)
130587021 Intron 7 Intronic c.991+58A>T Benign 1 ARUP Laboratories
130587057 Intron 7 Intronic c.991+22_991+26dup Benign 2 Lesca (2004)
Lenato (2006)
ARUP Laboratories
130587058 Intron 7 Intronic c.991+21_991+26dup Benign 1 ARUP Laboratories
130587077 Intron 7 Splice Site c.991+2T>G Pathogenic 1 Bossler (2006)
130587078 Intron 7 Splice Site c.991+1del Pathogenic 1 IMPACT Genetics
130587079 Exon 7 Missense c.991G>A p.Gly331Ser Pathogenic 7 Letteboer (2005)
Bossler (2006)
Gedge (2007)
ARUP Laboratories
Nishida (2012)
McDonald (2009)
130587080 Exon 7 Deletion c.990del p.Cys330Trpfs*29 Pathogenic Torring (2014)
130587091 Exon 7 Duplication c.979_982dup p.Ser328Cysfs*7 Pathogenic 1 Prigoda (2006)
130587102 Exon 7 Duplication c.968dup p.Ser324Leufs*10 Pathogenic 4 Shovlin (1997)
Harrison (2003)
Bayrak-Toydemir (2006)
Gedge (2007)
ARUP Laboratories
130587103 Exon 7 Deletion c.967_968del p.Val323Leufs*10 Pathogenic 1 Fernandez (2006)
130587117 Exon 7 Duplication c.953dup p.Leu319Alafs*15 Pathogenic 1 Prigoda (2006)
ARUP Laboratories
130587138 Exon 7 Missense c.932T>G p.Val311Gly Pending classification 1 Karabegovic (2004)
130587147 Exon 7 Missense c.923C>A p.Ala308Asp Suspected Pathogenic 4 Bossler (2006)
Prigoda (2006)
Nishida (2012)
Submitted by Edinburgh Laboratories 2013
130587153 Exon 7 Missense c.917T>C p.Leu306Pro Pending classification 3 Gallione (1998)
Letteboer (2005)
Bossler (2006)
130587162 Exon 7 Missense c.908C>A p.Ala303Asp Pending classification 1 IMPACT Genetics
130587163 Exon 7 Duplication c.907dup p.Ala303Glyfs*31 Pathogenic 2 ARUP Laboratories
130587165 Exon 7 Deletion c.905_915del p.Glu302Alafs*28 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130587166 Exon 7 Nonsense c.904G>T p.Glu302* Pathogenic 1 ARUP Laboratories
130587167 Exon 7 Duplication c.903_904dup p.Glu302Glyfs*58 Pathogenic 1 Cymerman (2003)
130587171 Exon 7 Missense c.899T>C p.Leu300Pro Pathogenic 4 Gedge (2007)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130587174 Exon 7 Deletion c.896_1082del p.Leu299Glnfs*8 Pathogenic 1 Prigoda (2006)
130587177 Exon 7 Deletion c.893del p.Gly298Alafs*61 Pathogenic 1 Lesca (2004)
130587180 Exon 7 Missense c.890A>C p.Gln297Pro Suspected Benign 1 ARUP Laboratories
130587181 Exon 7 Nonsense c.889C>T p.Gln297* Pathogenic 1 Lenato (2006)
130587182 Exon 7 Indel c.888_918delinsAAGCTCCCAG p.Gln297_Leu306delins SerSerGln Pending classification 2 Letteboer (2005)
Lastres (1994)
130587188 Exon 7 Deletion c.882_920del p.Thr295_Asn307del Pending classification 2 McAllister (1994)
Lastres (1994)
130587192 Exon 7 Duplication c.878dup p.Asp294Argfs*40 Pathogenic 1 Wehner (2006)
130587195 Exon 7 Missense c.875T>A p.Leu292His Uncertain 2 ARUP Laboratories
130587198 Exon 7 Deletion c.872_883del p.Lys291_Asp294del Suspected Pathogenic 4 Gedge (2007)
ARUP Laboratories
Delaney (2012)
130587206 Exon 7 Deletion c.864del p.Gly289Alafs*70 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130587235 Exon 7 Deletion c.835_837del p.Phe279del Pending classification 1 Wehner (2006)
130587236 Exon 7 Deletion c.834_837del p.Phe279Argfs*79 Pathogenic 1 Fernandez (2006)
130587236 Exon 7 Duplication c.834dup p.Phe279Leufs*55 Pathogenic 1 Fernandez (2006)
130587239 Exon 7 Nonsense c.831C>G p.Tyr277* Pathogenic 2 McAllister (1994)
Lastres (1994)
130587242 Exon 7 Duplication c.828dup p.Tyr277Ilefs*57 Pathogenic 1 Dakeishi (2002)
130587248 Exon 7 Deletion c.822_823del p.Gly275Argfs*58 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130587249 Exon 7 Missense c.821C>T p.Thr274Ile Pending classification Torring (2014)
130587250 Exon 7 Indel c.820_826delins14 p.Thr274Leufs*62 Pathogenic 1 Cymerman (2000)
130587253 Exon 7-8 Large Deletion EX7_8del Deletion Exon 7-9 Pathogenic 2 ARUP Laboratories
130587253 Exon 7-8 Large Deletion EX7-8del p.Thr273_Ala378del Pathogenic 1 Cymerman (2003)
130587254 Intron 6 Splice Site c.817-1G>C Pathogenic Torring (2014)
130587254 Intron 6 Splice Site c.817-1G>T Pathogenic 1 Fodstad (2011)
130587255 Intron 6 Splice Site c.817-2A>T Pathogenic 1 Lenato (2006)
130587256 Intron 6 Splice Site c.817-3T>G Pending classification 1 Torring (2012)
130587260 Intron 6 Splice Site c.817-7C>G Pending classification 1 Prigoda (2006)
130587280 Intron 6 Intronic c.817-27_817-26del Pending classification 1 Gedge (2007)
130587332 Intron 6 Intronic c.817-79C>A Benign 4 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130587505 Intron 6 Splice Site c.816+5G>C Suspected Pathogenic 1 Olivieri (2006)
ARUP Laboratories
130587508 Intron 6 Splice Site c.816+2T>C Pathogenic 2 Schulte (2005)
Bossler (2006)
ARUP Laboratories
130587508 Intron 6 Splice Site c.816+2T>A Pathogenic 1 Lenato (2006)
130587509 Intron 6 Splice Site c.816+1G>A Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130587510 Exon 6 Nonsense c.816G>A p.Trp272* Pathogenic 2 ARUP Laboratories
130587511 Exon 6 Nonsense c.815G>A p.Trp272* Pathogenic 1 ARUP Laboratories
130587514 Exon 6 Missense c.812T>A p.Ile271Asn Pending classification 2 Fontalba (2008)
130587518 Exon 6 Nonsense c.808C>T p.Gln270* Pathogenic Torring (2014)
130587527 Exon 6 Duplication c.799_805dup p.Met269Thrfs*67 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130587536 Exon 6 Missense c.790G>A p.Asp264Asn Uncertain 1 Letteboer (2005)
Lenato (2006)
ARUP Laboratories
130587538 Exon 6 Missense c.788T>C p.Ile263Thr Uncertain 1 Lesca (2004)
ARUP Laboratories
130587539 Exon 6 Deletion c.787_789del p.Ile263del Pending classification 5 Lesca (2004)
Letteboer (2005)
Kuehl (2005)
Bossler (2006)
Lesca (2006)
130587541 Exon 6 Deletion c.785_789del p.Leu262Argfs*70 Pathogenic 1 Lesca (2004)
130587544 Exon 6 Nonsense c.782G>A p.Trp261* Pathogenic 2 Paquet (2001)
Abdalla (2005)
130587545 Exon 6 Missense c.781T>C p.Trp261Arg Pending classification 1 Letteboer (2005)
130587546 Exon 6 Insertion c.780_781ins8 p.Ser260fs Pathogenic 1 Olivieri (2006)
130587548 Exon 6 Missense c.778T>C p.Ser260Pro Pending classification 1 Wehner (2006)
130587551 Exon 6 Deletion c.775del p.Val259Cysfs*100 Pathogenic 1 Schulte (2005)
130587552 Exon 6 Nonsense c.774C>A p.Tyr258* Pathogenic Torring (2014)
130587552 Exon 6 Nonsense c.774C>G p.Tyr258* Pathogenic 1 Olivieri (2007)
ARUP Laboratories
130587553 Exon 6 Indel c.773_776delinsGCAGGGTC p.Tyr258Cysfs*77 Pathogenic 1 ARUP Laboratories
130587554 Exon 6 Insertion c.772_773insC p.Tyr258Serfs*76 Pathogenic 1 Lesca (2004)
Bossler (2006)
130587554 Exon 6 Deletion c.772del p.Tyr258Thrfs*101 Pathogenic 4 Fernandez (2006)
Olivieri (2007)
ARUP Laboratories
Nishida (2012)
130587555 Exon 6 Deletion c.771del p.Tyr258Thrfs*101 Pathogenic 3 Gedge (2007)
ARUP Laboratories
130587555 Exon 6 Duplication c.771dup p.Tyr258Leufs*76 Pathogenic 5 ARUP Laboratories
Lesca (2004)
Lenato (2006)
Fontalba (2008)
Letteboer (2005)
130587566 Exon 6 Nonsense c.760C>T p.Gln254* Pathogenic 1 IMPACT Genetics
ARUP Laboratories
130587574 Exon 6 Missense c.752T>G p.Leu251Arg Pending classification 1 IMPACT Genetics
130587575 Exon 6 Deletion c.751_753del p.Leu251del Pending classification 1 Wehner (2006)
130587583 Exon 6 Deletion c.743del p.Asp248Valfs*111 Pathogenic 1 ARUP Laboratories
130587586 Exon 6 Deletion c.740del p.Leu247Profs*112 Pathogenic 1 Bossler (2006)
130587590 Exon 6 Deletion c.736del p.Asp246Ilefs*113 Pathogenic 3 Cymerman (2003)
Bossler (2006)
Letteboer (2005)
Submitted by Edinburgh Laboratories 2013
130587600 Exon 6 Nonsense c.726C>A p.Cys242* Pathogenic 3 ARUP Laboratories
McDonald (2009)
130587605 Exon 6 Deletion c.721_725del p.Ser241Argfs*91 Pathogenic 1 ARUP Laboratories
130587610 Exon 6 Insertion c.716_717insG p.Leu240Thrfs*94 Pathogenic 1 Bossler (2006)
130587611 Exon 6 Nonsense c.715G>T p.Glu239* Pathogenic 1 Abdalla (2005)
130587611 Exon 6 Duplication c.715dup p.Glu239Glyfs*95 Pathogenic 2 Prigoda (2006)
Submitted by Edinburgh Laboratories 2013
130587613 Exon 6 Missense c.713T>A p.Val238Glu Uncertain 1 ARUP Laboratories
130587622 Exon 6 Deletion c.704del p.Thr235Argfs*2 Pathogenic 1 Schulte (2005)
130587625 Exon 6 Insertion c.701_702insACGG p.Thr235Argfs*100 Pathogenic 1 Letteboer (2005)
130587632 Exon 6 Deletion c.694_699del p.Arg232_Thr233del Pending classification 2 Lesca (2004)
ARUP Laboratories
130587637 Intron 5 Splice Site c.690-1G>A Pathogenic 2 Argyriou(2006)
ARUP Laboratories
130587638 Intron 5 Splice Site c.690-2A>T Pathogenic 3 Cymerman (2000)
Nishida (2012)
Submitted by Edinburgh Laboratories 2013
130587908 Intron 5 Intronic c.689+66dup Benign 1 ARUP Laboratories
130587972 Intron 5 Splice Site c.689+2T>C Pathogenic 2 Lesca (2004)
Letteboer (2005)
130587981 Exon 5 Deletion c.682_686del p.Ser228Argfs*104 Pathogenic 1 Harrison (2003)
130587989 Exon 5 Missense c.674C>T p.Pro225Leu Uncertain 2 ARUP Laboratories
McDonald (2009)
130588001 Exon 5 Deletion c.662del p.Leu221Argfs*14 Pathogenic 1 Nishida (2012)
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
130588004 Exon 5 Indel c.659_660delinsAT p.Ile220Asn Suspected pathogenic 2 Gedge (2007)
ARUP Laboratories
130588004 Exon 5 Missense c.659T>C p.Ile220Thr Pathogenic 4 Bossler (2006)
Gedge (2007)
ARUP Laboratories
130588004 Exon 5 Missense c.659T>A p.Ile220Asn Pathogenic 2 Gedge (2007)
ARUP Laboratories
130588006 Exon 5 Deletion c.657_658del p.Ile220Profs*113 Pathogenic 1 Bourdeau (2000)
130588010 Exon 5 Duplication c.653dup p.His219Alafs*115 Pathogenic 2 Bossler (2006)
Nishida (2012)
130588016 Exon 5 Deletion c.647del p.Lys216Argfs*6 Pathogenic 1 Bossler (2006)
130588017 Exon 5 Missense c.646A>G p.Lys216Glu Pending classification 4 Fontalba (2008)
Submitted by Edinburgh Laboratories 2013
130588019 Exon 5 Deletion c.644del p.His215Profs*7 Pathogenic 1 Argyriou(2006)
130588023 Exon 5 Deletion c.640_643del p.Gly214Thrfs*7 Pathogenic 2 Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
Bossler (2006)
ARUP Laboratories
130588023 Exon 5 Missense c.640G>A p.Gly214Ser Pathogenic Personal communication with Dr. Michelle Letartte (SickKids PGCRL)
130588037 Exon 5 Nonsense c.626T>A p.Leu209* Pathogenic 1 ARUP Laboratories
130588042 Exon 5 Deletion c.619_621del p.Cys207del Pending classification 1 Lesca (2004)
130588043 Exon 5 Missense c.620G>A p.Cys207Tyr Pending classification 1 Submitted by Edinburgh Laboratories 2013
130588046 Exon 5 Deletion c.617delG p.Gly206Alafs*16 Pathogenic 1 ARUP Laboratories
130588049 Exon 5 Missense c.614G>C p.Arg205Pro Pathogenic 2 Gedge (2007)
ARUP Laboratories
130588059 Exon 5 Indel c.604_607delinsCCC p.Ala202Profs*20 Pathogenic 4 Submitted by Edinburgh Laboratories 2013
130588068 Exon 5 Duplication c.595_596dup p.Thr200Valfs*23 Pathogenic 1 Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
ARUP Laboratories
130588069 Exon 5 Deletion c.594_622del p.Arg199Leufs*125 Pathogenic 2 Lastella (2003)
Lenato (2006)
130588070 Exon 5 Missense c.593C>T p.Pro198Leu Uncertain 3 ARUP Laboratories
McDonald (2009)
130588072 Exon 5 Deletion c.591del p.Pro198Argfs*24 Pathogenic 1 ARUP Laboratories
130588073 Exon 5 Missense c.590G>C p.Arg197Pro Pending classification 2 Olivieri (2007)
Submitted by Edinburgh Laboratories 2013
130588073 Exon 5 Missense c.590G>A p.Arg197Gln Pending classification 1 Abdalla (2005)
130588074 Exon 5 Missense c.589C>T p.Arg197Trp Pending classification 1 IMPACT Genetics
130588075 Exon 5 Nonsense c.588G>A p.Trp196* Pathogenic 2 Cymerman (2003)
ARUP Laboratories
130588076 Exon 5 Nonsense c.587G>A p.Trp196* Pathogenic 3 McAllister (1995)
Cymerman (2000)
Bossler (2006)
ARUP Laboratories
130588077 Exon 5 Deletion c.586_604del p.Trp196Profs*20 Pathogenic 1 Abdalla (2005)
130588077 Exon 5 Missense c.586T>C p.Trp196Arg Pathogenic 1 Bayrak-Toydemir (2004)
Bayrak-Toydemir (2006)
ARUP Laboratories
130588082 Exon 5 Deletion c.581_592del p.Leu194_Arg197del Pathogenic 2 Gedge (2007)
ARUP Laboratories
130588082 Exon 5 Missense c.581T>C p.Leu194Pro Uncertain 1 Cymerman (2003)
ARUP Laboratories
130588083 Exon 5 Deletion c.580_596del p.Leu194Tyrfs*134 Pathogenic 1 ARUP Laboratories
130588085 Exon 5 Deletion c.578_596del p.Thr193Ilefs*23 Pathogenic 1 Nishida (2012)
130588086 Exon 5 Indel c.577_582delinsGTACTCCAG p.Thr193delinsSerThrProAla Pending classification 1 Argyriou(2006)
130588086 Exon 5 Duplication c.577_580dup p.Leu194Hisfs*141 Pathogenic 2 Cymerman (2000)
ARUP Laboratories
130588086 Exon 5 Insertion c.577_578insGC p.Thr193Serfs*30 Pathogenic 1 Letteboer (2005)
130588087 Exon 5 Deletion c.576_596del p.Leu194_Thr200del Pathogenic 1 Shovlin (1997)
130588089 Exon 5 Deletion c.574del p.Arg192Alafs*30 Pathogenic 1 Olivieri (2007)
130588091 Exon 5 Missense c.572G>A p.Gly191Asp Benign 6 Lesca (2004)
Abdalla (2005)
Lenato (2006)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130588099 Exon 5 Duplication c.562dup p.Gln188Profs*146 Pathogenic 1 Cymerman (2003)
130588126 Exon 5 Deletion c.537_538del p.Ser180Leufs*153 Pathogenic 1 Bossler (2006)
130588137 Exon 5 Nonsense c.526C>T p.Gln176* Pathogenic 3 Olivieri (2007)
ARUP Laboratories
130588139 Exon 5 Large Deletion EX5del Pathogenic 2 Cymerman (2003)
ARUP Laboratories
130588140 Intron 4 Splice Site c.524-1G>A Pathogenic 3 ARUP Laboratories
130588141 Intron 4 Splice Site c.524-2A>G Pathogenic 5 Gallione (1998)
Bayrak-Toydemir (2006)
Gedge (2007)
ARUP Laboratories
130588154 Intron 4 Intronic c.524-15C>T Benign 1 ARUP Laboratories
130588789 Exon 4 Splice Site c.523G>C p.Ala175Pro Pending classification 1 Cymerman (2003)
130588789 Exon 4 Splice Site c.523G>A p.Ala175Thr Pathogenic 2 Bossler (2006)
Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
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
130588810 Exon 4 Missense c.502A>T p.Ile168Phe VUS Personal communication with Dr. Silvana Penco from Niguarda Ca'Granda Hospitl, Milan Italy
130588815 Exon 4 Insertion c.497_498insC p.Gln166Hisfs*168 Pathogenic 2 Letteboer (2005)
ARUP Laboratories
130588816 Exon 4 Duplication c.496dup p.Gln166Profs*168 Pathogenic 1 Schulte (2005)
130588816 Exon 4 Deletion c.496del p.Gln166Argfs*56 Pathogenic 3 Lesca (2004)
ARUP Laboratories
130588817 Exon 4 Deletion c.495_496del p.Gln166Glufs*167 Pathogenic 1 Olivieri (2007)
130588818 Exon 4 Deletion c.494_501del p.Pro165Hisfs*166 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130588818 Exon 4 Missense c.494C>T p.Pro165Leu Pending classification 1 Cymerman (2003)
130588818 Exon 4 Missense c.494C>G p.Pro165Arg Uncertain 2 Gedge (2007)
ARUP Laboratories
130588819 Exon 4 Missense c.493C>T p.Pro165Ser Uncertain 1 ARUP Laboratories
130588833 Exon 4 Missense c.479C>A p.Ala160Asp Pending classification 1 Yamaguchi (1997)
Paquet (2001)
130588834 Exon 4 Missense c.478G>C p.Ala160Pro Pending classification 1 Submitted by Edinburgh Laboratories 2013
130588841 Exon 4 Deletion c.471_472del p.Ser158Cysfs*3 Pathogenic 3 Gedge (2007)
ARUP Laboratories
130588851 Exon 4 Deletion c.461del p.Gly154Alafs*9 Pathogenic 1 Lesca (2004)
130588855 Exon 4 Deletion c.457del p.Arg153Glyfs*10 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130588865 Exon 4 Missense c.447G>C p.Trp149Cys Pathogenic 7 Gallione (1998)
Bourdeau (2000)
Bossler (2006)
ARUP Laboratories
Nishida (2012)
130588865 Exon 4 Nonsense c.447G>A p.Trp149* Pathogenic 1 Bossler (2006)
130588866 Exon 4 Missense c.446G>C p.Trp149Ser Uncertain 2 Gedge (2007)
ARUP Laboratories
130588890 Exon 4 Deletion c.422del p.Phe141Serfs*22 Pathogenic 1 ARUP Laboratories
130588915 Exon 4 Duplication c.397dup p.Val133Glyfs*16 Pathogenic 1 IMPACT Genetics
130588915 Exon 4 Deletion c.397del p.Val133Serfs*30 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130588919 Exon 4 Silent c.393G>C p.Pro131Pro Pending classification 1 Submitted by Edinburgh Laboratories 2013
130588920 Exon 4 Deletion c.392del p.Pro131Argfs*32 Pathogenic 2 Wehner (2006)
Submitted by Edinburgh Laboratories 2013
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
130588924 Exon 4 Missense c.388C>T p.Pro130Ser Pending classification 1 Submitted by Edinburgh Laboratories 2013
130588924 Exon 4 Missense c.388C>A p.Pro130Thr Pending classification 1 Lenato (2006)
130588938 Exon 4 Missense c.374T>C p.Val125Ala Uncertain 1 ARUP Laboratories
130588938 Exon 4 Missense c.374T>A p.Val125Asp Pathogenic 3 Paquet (2001)
Bossler (2006)
Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
130588942 Exon 4 Deletion c.370del p.Leu124Trpfs*39 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130588951 Exon 4-7 Large Deletion EX4_7del Pathogenic 1 ARUP Laboratories
130588951 Exon 4-6 Large Deletion EX4_6del Pathogenic 1 Bossler (2006)
130588952 Intron 3 Large Deletion c.361-?_523+?del Deletion Exon 5 Pathogenic 1 Bossler (2006)
130588953 Intron 3 Splice Site c.361-2A>G Pathogenic 2 Shovlin (1997)
Brusgaard (2004)
130588953 Intron 3 Splice Site c.361-2A>C Pathogenic 1 Kjeldsen (2005)
130588965 Intron 3 Deletion c.361-14del188 Pathogenic 1 IMPACT Genetics
130589042 Intron 3 Intronic c.361-91del Pending classification 1 Shoukier(2008)
130589060 Intron 3 Intronic c.361-109_361-106del Benign 1 Bossler (2006)
ARUP Laboratories
130591875 Intron 3 Intronic c.360+91C>T Benign 2 ARUP Laboratories
130591945 Intron 3 Intronic c.360+21C>T Benign 1 ARUP Laboratories
130591961 Intron 3 Splice Site c.360+5G>C Uncertain 2 Letteboer (2005)
Gedge (2007)
ARUP Laboratories
130591962 Intron 3 Splice Site c.360+4_360+7del Pathogenic 3 ARUP Laboratories
Gedge (2007)
Olivieri (2007)
Submitted by Edinburgh Laboratories 2013
130591962 Intron 3 Splice Site c.360+4A>G Pending classification 2 Shovlin (1997)
Submitted by Edinburgh Laboratories 2013
130591963 Intron 3 Duplication c.360+3dup Pending classification 1 Nishida (2012)
130591965 Intron 3 Splice Site c.360+1G>T pathogenic 1 IMPACT Genetics
130591965 Intron 3 Splice Site c.360+1del Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130591965 Intron 3 Splice Site c.360+1G>C Pathogenic 1 Dakeishi (2002)
ARUP Laboratories
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 Edinbu
130591966 Exon 3 Silent c.360C>T p.Tyr120Tyr Suspected Benign 1 ARUP Laboratories
130591966 Exon 3 Nonsense c.360C>A p.Tyr120* Pathogenic 3 Brusgaard (2004)
Kjeldsen (2005)
ARUP Laboratories
130591982 Exon 3 Deletion c.344del p.Pro115Hisfs*48 Pathogenic 1 Argyriou(2006)
130591988 Exon 3 Deletion c.338del p.Gly113Glufs*50 Pathogenic 1 Olivieri (2007)
130591994 Exon 3 Deletion c.332_338del p.Ala111Glufs*50 Pathogenic 1 Letteboer (2005)
130591995 Exon 3 Missense c.331G>A p.Ala111Thr Uncertain 1 ARUP Laboratories
130591998 Exon 3 Nonsense c.328C>T p.Gln110* Pathogenic Personal communication with the Department of Genetics School of Medicine University of Pennsylvania
130592000 Exon 3 Deletion c.326_327del p.Leu109Profs*39 Pathogenic 1 Wehner (2006)
130592002 Exon 3 Duplication c.324dup p.Leu109Serfs*40 Pathogenic 1 Schulte (2005)
130592006 Exon 3 Missense c.320T>G p.Leu107Arg Pending classification 1 Lesca (2004)
130592012 Exon 3 Missense c.314T>A p.Val105Asp Pending classification 2 Bossler (2006)
Nishida (2012)
130592017 Exon 3 Deletion c.309_311del p.Ser104del Pathogenic 1 Lenato (2006)
130592036 Exon 3 Missense c.290T>G p.Leu97Arg Pathogenic 3 Gedge (2007)
ARUP Laboratories
130592039 Exon 3 Missense c.287T>C p.Leu96Pro Pending classification 1 Lenato (2006)
130592049 Exon 3 Deletion c.277del p.Arg93Glufs*9 Pathogenic 1 Schulte (2005)
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
130592053 Exon 3 Nonsense c.273G>A p.Trp91* Pathogenic 1 IMPACT Genetics
130592053 Exon 3 Indel c.273_274delinsAA p.Trp91* Pathogenic 2 ARUP Laboratories
130592056 Exon 3 Duplication c.270dup p.Trp91Leufs*58 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130592068 Exon 3 Duplication c.258_276dup p.Arg93Alafs*62 Pathogenic 1 Brusgaard (2004)
130592079 Exon 3 Nonsense c.247C>T p.Gln83* Pathogenic 1 Letteboer (2005)
130592092 Exon 3 Silent c.234G>A p.Leu78Leu Benign 1 ARUP Laboratories
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
130592101 Exon 3 Silent c.225G>A p.Pro75Pro Benign 2 ARUP Laboratories
130592102 Exon 3 Deletion c.224del p.Pro75Argfs*6 Pathogenic 1 ARUP Laboratories
130592106 Exon 3-8 Large Duplication EX3_8dup Pathogenic Personal communication with Dr. Michelle Letartte (SickKids PGCRL)
130592106 Exon 3-8 Large Deletion EX3_8del Pathogenic 1 ARUP Laboratories
130592106 Exon 3-4 Large Deletion EX3_4del Pathogenic 1 ARUP Laboratories
130592106 Exon 3 Large Duplication EX3dup Pathogenic 2 ARUP Laboratories
130592106 Exon 3 Large Deletion EX3del Pathogenic 1 ARUP Laboratories
Bossler (2006)
130592108 Intron 2 Splice Site c.220-2A>G Pathogenic 1 ARUP Laboratories
130605348 Intron 2 Intronic c.219+25G>T Benign 1 ARUP Laboratories
130605348 Intron 2 Intronic c.219+25G>A Benign 1 Gedge (2007)
ARUP Laboratories
130605351 Intron 2 Intronic c.219+22_219+23delinsGA Suspected Benign 1 ARUP Laboratories
Gedge (2007)
130605351 Intron 2 Intronic c.219+22C>T Benign 1 Bossler (2006)
ARUP Laboratories
130605368 Intron 2 Splice Site c.219+5G>C Pending classification 1 Lesca (2006)
130605372 Intron 2 Splice Site c.219+1G>T Pathogenic Torring (2014)
130605373 Exon 2 Splice Site c.219G>A p.Thr73Thr Uncertain 2 Gedge (2007)
ARUP Laboratories
130605378 Exon 2 Deletion c.214_215del p.Pro72Asnfs*76 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130605380 Exon 2 Deletion c.212_219+6del p.Phe71Trpfs*75 Pathogenic 2 Fontalba (2008)
130605382 Exon 2 Deletion c.210del p.Glu70Aspfs*11 Pathogenic 1 Olivieri (2007)
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
130605397 Exon 2 Duplication c.195dup p.Val66Cysfs*83 Pathogenic 4 Lesca (2004)
Schulte (2005)
Lesca (2006)
Yan(2006)
130605413 Exon 2 Indel c.179_180delinsAA p.Ala60Glu Uncertain 2 ARUP Laboratories
130605426 Exon 2 Nonsense c.166C>T p.Gln56* Pathogenic 3 Bossler (2006)
Argyriou(2006)
ARUP Laboratories
130605428 Exon 2 Deletion c.164del p.Ala55Valfs*26 Pathogenic 1 ARUP Laboratories
130605433 Exon 2 Nonsense c.159C>A p.Cys53* Pathogenic 1 Letteboer (2005)
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
130605435 Exon 2 Deletion c.157del p.Cys53Alafs*28 Pathogenic Torring (2014)
130605437 Exon 2 Missense c.155G>T p.Gly52Val Pending classification 6 Pece (1997)
Gallione (1998)
Pece-Barbara (1999)
McDonald(2000)
130605437 Exon 2 Missense c.155G>A p.Gly52Asp Suspected Pathogenic 3 Paquet (2001)
Harrison (2003)
Wehner (2006)
ARUP Laboratories
130605438 Exon 2 Missense c.154G>C p.Gly52Arg Pending classification 1 Wehner (2006)
130605446 Exon 2 Deletion c.146_152del p.Val49Glyfs*30 Pathogenic 1 IMPACT Genetics
130605446 Exon 2 Indel c.144_146delinsAG p.Val49Aspfs*32 Pathogenic 1 Submitted by Edinburgh Laboratories 2013
130605447 Exon 2 Missense c.145G>T p.Val49Phe Pathogenic 5 Lesca (2004)
Olivieri (2007)
ARUP Laboratories
Nishida (2012)
Submitted by Edinburgh Laboratories 2013
130605450 Exon 2 Nonsense c.142C>T p.Gln48* Pathogenic 1 Letteboer (2005)
130605471 Exon 2 Missense c.121G>A p.Glu41Lys Pending classification 2 Submitted by Edinburgh Laboratories 2013
130605471 Exon 2 Nonsense c.121G>T p.Glu41* Pathogenic 1 Cymerman (2003)
130605472 Exon 2 Silent c.120C>T p.Gly40Gly Benign 8 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130605477 Exon 2 Deletion c.115del p.Arg39Glyfs*4 Pathogenic 2 Cymerman (2003)
ARUP Laboratories
130605481 Exon 2 Deletion c.111del p.Glu38Argfs*5 Pathogenic 1 ARUP Laboratories
130605485 Exon 2 Deletion c.107del p.Gly36Alafs*7 Pathogenic 1 Schulte (2005)
130605487 Exon 2 Duplication c.105_108dup p.Pro37Glyfs*12 Pathogenic Torring (2014)
130605495 Exon 2 Nonsense c.97C>T p.Gln33* Pathogenic 2 Lenato (2006)
Olivieri (2007)
130605496 Exon 2 Deletion c.96_102del p.Gln33Trpfs*8 Pathogenic 1 Olivieri (2007)
130605497 Exon 2 Missense c.95T>G p.Leu32Arg Pending classification 5 Paquet (2001)
Lin (2000)
Bossler (2006)
Giordano (2006)
Gedge (2007)
130605497 Exon 2 Missense c.95T>A p.Leu32His Pending classification 2 Gedge (2007)
ARUP Laboratories
130605502 Exon 2 Nonsense c.90T>A p.Cys30* Pathogenic 1 Berg (2003)
130605515 Exon 2 Deletion c.77del p.Thr27Glnfs*16 Pathogenic 1 Olivieri (2007)
130605524 Exon 2 Splice Site c.68G>A p.Ser23Asn Pending classification 3 Shovlin (1997)
Fernandez (2005)
Fernandez (2006)
130605524 Exon 2-10 Large Deletion EX2_10del Pathogenic 1 Bossler (2006)
130605524 Exon 2-9 Large Deletion Ex2_9del Pathogenic 1 Bossler (2006)
130605524 Exon 2-8 Large Duplication EX2_8dup Pathogenic 1 ARUP Laboratories
130605524 Exon 2-4 Large Duplication EX2_4dup Pathogenic 1 Prigoda (2006)
130605525 Intron 1 Splice Site c.68-1G>A Pathogenic 2 Lesca (2004)
Bossler (2006)
ARUP Laboratories
130605542 Intron 1 Intronic c.68-18C>A Pending classification 1 Bossler (2006)
130616520 Intron 1 Intronic c.67+48G>A Pending classification 1 Submitted by Edinburgh Laboratories 2013
130616543 Intron 1 Intronic c.67+25G>T Pending classification 2 Lastella (2003)
Lenato (2006)
130616563 Intron 1 Splice Site c.67+5G>A Pending classification 3 Prigoda (2006)
Shovlin (1997)
Cymerman (2003)
130616565 Intron 1 Splice Site c.67+3A>T Pending classification 1 Bossler (2006)
130616566 Intron 1 Splice Site c.67+2T>G Pathogenic 1 Nishida (2012)
130616566 Intron 1 Splice Site c.67+2del Pathogenic 2 ARUP Laboratories
130616567 Intron 1 Splice Site c.67+1G>A Pathogenic 3 Gallione (2000)
Letteboer (2005)
Giordano (2006)
130616568 Exon 1 Deletion c.67del p.Ser23Valfs*20 Pathogenic 2 ARUP Laboratories
130616572 Exon 1 Deletion c.63del p.Thr22Glnfs*21 Pathogenic 4 Lastella (2003)
Abdalla (2005)
Lenato (2006)
Giordano (2006)
130616594 Exon 1 Duplication c.41_51dup p.Ser18Trpfs*29 Pathogenic 3 Gedge (2007)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130616594 Exon 1 Missense c.41T>C p.Leu14Pro Pathogenic 1 ARUP Laboratories
130616600 Exon 1 Missense c.35T>C p.Leu12Pro Uncertain 2 ARUP Laboratories
130616603 Exon 1 Missense c.32C>A p.Ala11Asp Pending classification 1 Bossler (2006)
130616610 Exon 1 Duplication c.24_34dup p.Leu12Argfs*35 Pathogenic 2 Bayrak-Toydemir (2006)
Gedge (2007)
ARUP Laboratories
130616612 Exon 1 Missense c.23T>C p.Leu8Pro Pathogenic 7 Lesca (2004)
Kjeldsen (2005)
Olivieri (2006)
El-Harith (2006)
ARUP Laboratories
McDonald (2009)
130616621 Exon 1 Missense c.14C>T p.Thr5Met Benign 10 Shovlin (1997)
Lastella (2003)
Abdalla (2005)
Lenato (2006)
ARUP Laboratories
Fontalba (2008)
130616624 Exon 1 Deletion c.11del p.Gly4Alafs*39 Pathogenic 1 IMPACT Genetics
130616628 Exon 1 Missense c.7C>T p.Arg3Cys Uncertain 3 Submitted by Edinburgh Laboratories 2013
ARUP Laboratories
130616632 Exon 1 Missense c.3G>A p.Met1? Suspected Pathogenic 1 ARUP Laboratories
130616633 Exon 1 Missense c.2T>G p.Met1? Pathogenic 4 Lesca (2004)
Berg (2003)
Lastres (1994)
ARUP Laboratories
130616633 Exon 1 Missense c.2T>C p.Met1? Pathogenic 4 Gallione (1998)
Cymerman (2000)
Bayrak-Toydemir (2006)
Giordano (2006)
130616634 Exon 1 Large Deletion EX1del Pathogenic 3 ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
Lesca (2006)
Bossler (2006)
Argyriou (2008)
130616634 Exon 1 Missense c.1A>G p.Met1? Pathogenic 3 Letteboer (2005)
Lenato (2006)
Gedge (2007)
ARUP Laboratories
130616643 5'UTR Regulatory c.-9G>A Pathogenic-Mild 7 Gedge (2007)
ARUP Laboratories
Damjanovich (2011)
130616644 5'UTR Regulatory c.-10C>T Pathogenic 4 Bossler (2006)
ARUP Laboratories
Submitted by Edinburgh Laboratories 2013
130616761 5'UTR Regulatory c.-127C>T Pathogenic 6 Kim (2011)
Damjanovich (2011)
ARUP Laboratories