Usual name* |
|
HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
c.-464_-463delGCinsTT | 5 flanking | c.-464_-463delGCinsTT | - | Not classified | To be validated |
| | 2005-12-29 |
c.-325A>T | 5 flanking | c.-325A>T | - | Not classified | To be validated |
| | 2006-04-05 |
c.-228G>A | 5 flanking | c.-228G>A | - | Not classified | To be validated |
| | 2005-12-29 |
c.-207T>A | 5 flanking | c.-207T>A | - | Not classified | To be validated |
| | 2006-04-13 |
del EXON 2 | 5UT | c.-14_78del | p.(Met1_Lys26del) | Likely pathogenic | VALIDATED |
| | 2002-05-27 |
M1L | exon 2 | c.1A>C | p.0 | Pathogenic | VALIDATED |
| | 2012-01-30 |
Met1? | exon 2 | c.3G>C | p.0 | Pathogenic | VALIDATED |
| | 2013-02-05 |
V5A | exon 2 | c.14T>C | p.(Val5Ala) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2010-08-26 |
L6fs | exon 2 | c.16_34del | p.(Leu6Glyfs*16) | Pathogenic | VALIDATED |
| | 2004-12-16 |
V8L | exon 2 | c.22G>C | p.(Val8Leu) | Likely pathogenic | VALIDATED |
| | 2003-10-13 |
V8M | exon 2 | c.22G>A | p.(Val8Met) | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
V8E | exon 2 | c.23T>A | p.(Val8Glu) | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 |
A10V | exon 2 | c.29C>T | p.(Ala10Val) | Likely pathogenic | VALIDATED |
| | 2012-01-30 |
G11R | exon 2 | c.34G>C | p.(Gly12Arg) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
K13X | exon 2 | c.37A>T | p.(Lys13*) | Pathogenic | VALIDATED |
| | 2002-02-05 |
K13Q | exon 2 | c.37A>C | p.(Lys13Gln) | Likely pathogenic | VALIDATED |
| | 2017-08-16 |
K13Nfs*68 | exon 2 | c.38_39insTCTG | p.(Lys13Asnfs*68) | Not classified | To be validated |
| | 2013-08-30 |
G18R | exon 2 | c.52G>A | p.(Gly18Arg) | Likely pathogenic | VALIDATED |
| | 2007-08-22 |
E19K | exon 2 | c.55G>A | p.(Glu19Lys) | Unsolved | UNSOLVED |
| | 2014-04-01 |
H20N | exon 2 | c.58C>A | p.(His20Asn) | Pathogenic | VALIDATED |
| | 2002-02-05 |
H20P | exon 2 | c.59A>C | p.(His20Pro) | Pathogenic | VALIDATED |
| | 2002-02-05 |
H20Q | exon 2 | c.60T>A | p.(His20Gln) | Pathogenic | VALIDATED |
| | 2004-12-16 |
A21V | exon 2 | c.62C>T | p.(Ala21Val) | Likely pathogenic | VALIDATED |
| | 2012-10-12 |
V22M | exon 2 | c.64G>A | p.(Val22Met) | Unsolved | UNSOLVED |
| | 2013-08-16 |
H24P | exon 2 | c.71A>C | p.(His24Pro) | Pathogenic | VALIDATED |
| | 2014-09-26 |
G25fs | exon 2 | c.72dupT | p.(Gly25Trpfs*55) | Pathogenic | VALIDATED |
| | 2003-08-04 |
G25G | exon 2 | c.75C>T | p.(Lys26Serfs*52) | Likely pathogenic | VALIDATED |
| | 2003-12-15 |
IVS2+2delT | intron 2 | c.78+2del | - | Likely pathogenic | VALIDATED |
| | 2007-07-03 |
c.78+3A>G | intron 2 | c.78+3A>G | - | Uncertain significance (VOUS) | PROVISIONAL |
| | 2010-07-23 |
c.78+10C>T | intron 2 | c.78+10C>T | - | Likely benign | VALIDATED |
| | 2012-12-07 |
c.78+61A>G | intron 2 | c.78+61A>G | - | Likely benign | VALIDATED |
| | 2004-12-16 |
c.78+177G>A | intron 2 | c.78+177G>A | - | Likely benign | VALIDATED |
| | 2004-12-16 |
c.79-62G>A | intron 2 | c.79-62G>A | - | Likely benign | VALIDATED |
| | 2004-12-16 |
del EXON 3 | exon 3 | c.79_226del | p.(Val27Serfs*16) | Pathogenic | VALIDATED |
| | 2003-09-23 |
A28T | exon 3 | c.82G>A | p.(Ala28Thr) | Pathogenic | VALIDATED |
| | 2012-10-02 |
L29fs | exon 3 | c.86del | p.(Leu29Argfs*5) | Pathogenic | VALIDATED |
| | 2008-02-26 |
L35S | exon 3 | c.104T>C | p.(Leu35Ser) | Pathogenic | VALIDATED |
| | 2003-07-21 |
R36T | exon 3 | c.107G>C | p.(Arg36Thr) | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
L39P | exon 3 | c.116T>C | p.(Leu39Pro) | Pathogenic | VALIDATED |
| | 2002-02-05 |
R40W | exon 3 | c.118C>T | p.(Arg40Trp ) | Likely pathogenic | VALIDATED |
| | 2010-05-18 |
R40L | exon 3 | c.119G>T | p.(Arg40Leu) | Unsolved | UNSOLVED |
| | 2013-05-06 |
L41P | exon 3 | c.122T>C | p.(Leu41Pro) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
H44fs | exon 3 | c.129_130del | p.(His44Glnfs*35) | Pathogenic | VALIDATED |
| | 2006-09-21 |
L51F | exon 3 | c.151C>T | p.(Leu51Phe) | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
S52N | exon 3 | c.155G>A | p.(Ser52Asn) | Benign | VALIDATED |
| | 2002-02-05 |
I56V | exon 3 | c.166A>G | p.(Ile56Val) | Uncertain significance (VOUS) | VALIDATED |
| | 2013-08-16 |
W62X(c.185) | exon 3 | c.185G>A | p.(Trp62*) | Pathogenic | VALIDATED |
| | 2002-02-05 |
W62X(c.186) | exon 3 | c.186G>A | p.(Trp62*) | Pathogenic | VALIDATED |
| | 2014-05-19 |
S69T | exon 3 | c.205T>A | p.(Ser69Thr) | Unsolved | UNSOLVED |
| | 2014-07-29 |
c.227-3C>G | intron 3 | c.227-3C>G | - | Unsolved | UNSOLVED |
| | 2008-04-30 |
c.227-1G>A | intron 3 | c.227-1G>A | - | Likely pathogenic | VALIDATED |
| | 2012-06-12 |
V80I | exon 4 | c.238G>A | p.(Val80Ile) | Likely benign | VALIDATED |
| | 2003-10-08 |
E93fs | exon 4 | c.277_283del | p.(Glu93Glnfs*38) | Pathogenic | VALIDATED |
| | 2006-09-21 |
L97fs | exon 4 | c.289del | p.(Leu97Cysfs*36) | Pathogenic | VALIDATED |
| | 2012-08-30 |
Y114fs | exon 4 | c.340_344del | p.(Tyr114Ilefs*71) | Pathogenic | VALIDATED |
| | 2006-09-21 |
Y116H | exon 4 | c.346T>C | p.(Tyr116His) | Likely pathogenic | VALIDATED |
| | 2009-09-10 |
L117P | exon 4 | c.350T>C | p.(Leu117Pro) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
I119M | exon 4 | c.357C>G | p.(Ile119Met) | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
R124W | exon 4 | c.370A>T | p.(Arg124Trp) | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
c.371+8C>T | intron 4 | c.371+8C>T | - | Likely benign | VALIDATED |
| | 2004-12-16 |
c.371+49A>G | intron 4 | c.371+49A>G | - | Likely benign | VALIDATED |
| | 2013-10-01 |
c.372-6T>C | intron 4 | c.372-6T>C | - | Unsolved | UNSOLVED |
| | 2012-10-12 |
c.372-3C>T | intron 4 | c.372-3C>T | - | Uncertain significance (VOUS) | VALIDATED |
| | 2006-05-02 |
del EXON 5 | exon 5 | c.372_527del | p.(Ala125_Arg176del) | Pathogenic | VALIDATED |
| | 2002-05-27 |
P127L | exon 5 | c.380C>T | p.(Pro127Leu) | Uncertain significance (VOUS) | VALIDATED |
| | 2014-02-24 |
D130G | exon 5 | c.389A>G | p.(Asp130Gly) | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 |
V132I | exon 5 | c.394G>A | p.(Val132Ile) | Pathogenic | VALIDATED |
| | 2004-12-16 |
V132Efs*25 | exon 5 | c.395del | p.(Val132Glufs*27) | Likely pathogenic | VALIDATED |
| | 2013-07-11 |
W134X | exon 5 | c.401G>A | p.(Trp134*) | Pathogenic | VALIDATED |
| | 2011-03-04 |
S135L | exon 5 | c.404C>T | p.(Ser135Leu) | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
S135S | exon 5 | c.405G>A | p.(=) | Benign | VALIDATED |
| | 2004-12-16 |
G140fs | exon 5 | c.417dupC | p.(Gly140Argfs*47) | Not classified | To be validated |
| | 2006-09-21 |
A141fs (dupG) | exon 5 | c.421dupG | p.(Ala141Glyfs*46) | Not classified | To be validated |
| | 2003-08-04 |
A141fs (delG) | exon 5 | c.421del | p.(Ala141Argfs*18) | Pathogenic | VALIDATED |
| | 2006-07-04 |
G142D | exon 5 | c.425G>A | p.(Gly142Asp) | Unsolved | UNSOLVED |
| | 2013-08-16 |
G144V | exon 5 | c.431G>T | p.(Gly144Val) | Likely pathogenic | PROVISIONAL |
| | 2013-05-06 |
A147T | exon 5 | c.439G>A | p.(Ala147Thr) | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
A147A | exon 5 | c.441C>T | p.(Ala147Ala) | Likely benign | VALIDATED |
| | 2017-09-05 |
A148T | exon 5 | c.442G>A | p.(Ala148Thr) | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
A148V | exon 5 | c.443C>T | p.(Ala148Val) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
Y149X | exon 5 | c.447C>G | p.(Tyr149*) | Pathogenic | VALIDATED |
| | 2002-02-05 |
S150L | exon 5 | c.449C>T | p.(Ser150Leu) | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
C152fs | exon 5 | c.450_453del | p.(Cys152Trpfs*6) | Likely pathogenic | VALIDATED |
| | 2012-07-03 |
S150S | exon 5 | c.450G>A | p.(=) | Likely benign | VALIDATED |
| | 2013-10-15 |
C152Y | exon 5 | c.455G>A | p.(Cys152Tyr) | Not classified | To be validated |
| | 2018-04-30 |
T159fs | exon 5 | c.475_478del | p.(Thr159Cysfs*9) | Pathogenic | VALIDATED |
| | 2011-03-04 |
C161RfsX25 | exon 5 | c.481_482del | p.(Cys161Argfs*25) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
C161R | exon 5 | c.481T>C | p.(Cys161Arg) | Not classified | To be validated |
| | 2017-11-20 |
P165L | exon 5 | c.494C>T | p.(Pro165Leu) | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
P167L | exon 5 | c.500C>T | p.(Pro167leu ) | Likely pathogenic | VALIDATED |
| | 2017-08-18 |
L168fs | exon 5 | c.503_512delinsAC | p.(Leu168Hisfs*16) | Not classified | To be validated |
| | 2006-09-21 |
D170D | exon 5 | c.510C>T | p.(=) | Benign | VALIDATED |
| | 2002-02-05 |
G171R | exon 5 | c.511G>A | p.(Gly171Arg) | Pathogenic | VALIDATED |
| | 2004-12-16 |
D172D | exon 5 | c.516T>C | p.(=) | Likely benign | VALIDATED |
| | 2003-07-22 |
W188X | exon 6 | c.564G>A | p.(Trp188*) | Pathogenic | VALIDATED |
| | 2003-02-25 |
A189V | exon 6 | c.566C>T | p.(Ala189Val) | Not classified | To be validated |
| | 2019-01-03 |
Q190fs | exon 6 | c.571del | p.(Gln191Lysfs*5) | Pathogenic | VALIDATED |
| | 2006-09-21 |
H197H | exon 6 | c.591C>T | p.(His197His) | Likely benign | VALIDATED |
| | 2003-10-15 |
G202R | exon 6 | c.604G>A | p.(Gly202Arg) | Pathogenic | VALIDATED |
| | 2002-02-05 |
V203fs | exon 6 | c.606_607insG | p.(Val203Glyfs*74) | Not classified | To be validated |
| | 2006-09-21 |
V203A | exon 6 | c.608T>C | p.(Val203Ala) | Pathogenic | VALIDATED |
| | 2004-03-18 |
D204E | exon 6 | c.612C>A | p.(Asp204Glu) | Uncertain significance (VOUS) | VALIDATED |
| | 2012-02-20 |
N205D | exon 6 | c.613A>G | p.(Asn205Asp) | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
T209A | exon 6 | c.625A>G | p.(Thr209Ala) | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
c.632-71A>G | intron 6 | c.632-71A>G | - | Likely benign | VALIDATED |
| | 2004-12-16 |
c.632-18A>G | intron 6 | c.632-18A>G | - | Likely benign | VALIDATED |
| | 2004-12-16 |
G211A | exon 7 | c.632G>C | p.(Gly211Ala) | Likely pathogenic | VALIDATED |
| | 2003-09-12 |
G211E | exon 7 | c.632G>A | p.(Gly211Glu) | Pathogenic | VALIDATED |
| | 2004-12-16 |
G212R | exon 7 | c.634G>A | p.(Gly212Arg) | Likely pathogenic | VALIDATED |
| | 2011-03-10 |
G212del | exon 7 | c.635_637del | p.(Gly212del) | Pathogenic | VALIDATED |
| | 2011-05-26 |
R215X | exon 7 | c.643C>T | p.(Arg215*) | Pathogenic | VALIDATED |
| | 2013-02-05 |
R215G | exon 7 | c.643C>G | p.(Arg215Gly) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2014-03-10 |
R215Q | exon 7 | c.644G>A | p.(Arg215Gln) | Likely pathogenic | VALIDATED |
| | 2002-02-05 |
Q218X | exon 7 | c.652C>T | p.(Gln218*) | Pathogenic | VALIDATED |
| | 2011-03-04 |
G219W | exon 7 | c.655G>T | p.(Gly219Trp) | Likely pathogenic | VALIDATED |
| | 2011-03-10 |
c.678-78delT | intron 7 | c.678-78del | - | Likely benign | PROVISIONAL |
| | 2014-03-03 |
del Exon 8 | intron 7 | c.678-1G>C | p.? | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
c.678-1G>A | intron 7 | c.678-1G>A | p.? or p.(Arg226fs) | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
P228L | exon 8 | c.683C>T | p.(Pro228Leu) | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
P228P | exon 8 | c.684A>G | p.(=) | Likely benign | VALIDATED |
| | 2006-09-21 |
L230P | exon 8 | c.689T>C | p.(Leu230Pro) | Likely pathogenic | PROVISIONAL |
| | 2010-09-29 |
L234P | exon 8 | c.701T>C | p.(Leu234Pro) | Pathogenic | VALIDATED |
| | 2006-09-21 |
T237S | exon 8 | c.709A>T | p.(Thr237Ser) | Pathogenic | VALIDATED |
| | 2006-09-21 |
R241C | exon 8 | c.721C>T | p.(Arg241Cys) | Pathogenic | VALIDATED |
| | 2008-04-30 |
T243I | exon 8 | c.728C>T | p.(Thr243Ile) | Likely pathogenic | VALIDATED |
| | 2003-07-21 |
L246P | exon 8 | c.737T>C | p.(Leu246Pro) | Likely pathogenic | VALIDATED |
| | 2003-04-04 |
V250I | exon 8 | c.748G>A | p.(Val250Ile) | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
V250F | exon 8 | c.748G>T | p.(Val250Phe ) | Unsolved | UNSOLVED |
| | 2017-08-18 |
N252S | exon 8 | c.755A>G | p.(Asn252Ser) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2013-08-16 |
L255P | exon 8 | c.764T>C | p.(Leu255Pro) | Uncertain significance (VOUS) | VALIDATED |
| | 2013-02-05 |
c.768+23G>C | intron 8 | c.768+23G>C | - | Likely benign | VALIDATED |
| | 2004-12-16 |
c.769-103C>T | intron 8 | c.769-103C>T | - | Likely benign | VALIDATED |
| | 2005-12-29 |
c.769-97 | intron 8 | c.769-97G>A | - | Likely benign | VALIDATED |
| | 2012-12-21 |
c.769-38 C>T | intron 8 | c.769-38C>T | - | Likely benign | VALIDATED |
| | 2003-09-18 |
c.769-7T>G | intron 8 | c.769-7T>G | - | Likely benign | VALIDATED |
| | 2004-03-08 |
c.769-7_769-6dupT | intron 8 | c.769-7_769-6dup | - | Likely benign | PROVISIONAL |
| | 2005-01-26 |
I260I | exon 9 | c.780C>A | p.(=) | Likely benign | VALIDATED |
| | 2003-07-22 |
V261A | exon 9 | c.782T>C | p.(Val261Ala) | Likely pathogenic | PROVISIONAL |
| | 2011-12-07 |
A262P | exon 9 | c.784G>C | p.(Ala262Pro) | Unsolved | UNSOLVED |
| | 2011-03-17 |
P263P | exon 9 | c.789C>A | p.(=) | Likely benign | VALIDATED |
| | 2013-08-27 |
L264F | exon 9 | c.790C>T | p.(Leu264Phe) | Likely pathogenic | PROVISIONAL |
| | 2003-07-21 |
c.790del | exon 9 | c.790del | p.(Leu264Serfs*2) | Pathogenic | VALIDATED |
| | 2013-02-05 |
L265P | exon 9 | c.794T>C | p.(Leu265Pro) | Pathogenic | VALIDATED |
| | 2003-07-21 |
L265R | exon 9 | c.794T>G | p.(Leu265Arg) | Pathogenic | VALIDATED |
| | 2004-10-05 |
I268T | exon 9 | c.803T>C | p.(Ile268Thr) | Pathogenic | VALIDATED |
| | 2002-02-05 |
D269H | exon 9 | c.805G>C | p.(Asp269His) | Uncertain significance (VOUS) | VALIDATED |
| | 2012-01-30 |
S272F | exon 9 | c.815C>T | p.(Ser272Phe) | Likely pathogenic | VALIDATED |
| | 2003-07-21 |
R277C | exon 9 | c.829C>T | p.(Arg277Cys) | Pathogenic | VALIDATED |
| | 2003-07-22 |
R277G | exon 9 | c.829C>G | p.(Arg277Gly) | Likely pathogenic | VALIDATED |
| | 2014-03-31 |
R277H | exon 9 | c.830G>A | p.(Arg277His) | Likely pathogenic | VALIDATED |
| | 2006-01-04 |
R277R | exon 9 | c.831C>T | p.(=) | Benign | VALIDATED |
| | 2006-04-27 |
V278A | exon 9 | c.833T>C | p.(Val278Ala) | Likely pathogenic | PROVISIONAL |
| | 2012-02-20 |
L279P | exon 9 | c.836T>C | p.(Leu279Pro) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
E284Kfs*17 | exon 9 | c.850del | p.(Glu284Lysfs*17) | Pathogenic | VALIDATED |
| | 2013-08-30 |
c.853insA | exon 9 | c.852dup | p.(Ala285Serfs*15) | Not classified | To be validated |
| | 2013-07-11 |
P286L | exon 9 | c.857C>T | p.(Pro286Leu) | Uncertain significance (VOUS) | VALIDATED |
| | 2008-02-26 |
P288L | exon 9 | c.863C>T | p.(Pro288Leu) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2006-05-02 |
Y291D | exon 9 | c.871T>G | p.(Tyr291Asp) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
V293M | exon 9 | c.877G>A | p.(Val293Met) | Uncertain significance (VOUS) | VALIDATED |
| | 2006-05-02 |
c.885+24G>A | intron 9 | c.885+24G>A | - | Likely benign | VALIDATED |
| | 2003-07-25 |
c.885+117C>A | intron 9 | c.885+117C>A | - | Likely benign | VALIDATED |
| | 2017-09-05 |
c.886-1G>A | intron 9 | c.886-1G>A | - | Likely pathogenic | VALIDATED |
| | 2011-09-01 |
I298T | exon 10 | c.893T>C | p.(Ile298Thr) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
D299N | exon 10 | c.895G>A | p.(Asp299Asn) | Not classified | To be validated |
| | 2018-04-03 |
N301T | exon 10 | c.902A>C | p.(Asn301Thr) | Pathogenic | VALIDATED |
| | 2003-07-22 |
L308L | exon 10 | c.924C>T | p.(=) | Likely benign | VALIDATED |
| | 2004-12-16 |
G309S | exon 10 | c.925G>A | p.(Gly309Ser) | Pathogenic | VALIDATED |
| | 2002-02-05 |
V310M | exon 10 | c.928G>A | p.(Val310Met) | Pathogenic | VALIDATED |
| | 2003-07-22 |
V310L | exon 10 | c.928G>T | p.(Val310Leu) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
G311R | exon 10 | c.931G>C | p.(Gly311Arg) | Likely pathogenic | VALIDATED |
| | 2014-04-17 |
H311R | exon 10 | c.935A>G | p.(His312Arg) | Unsolved | UNSOLVED |
| | 2013-02-05 |
S314S | exon 10 | c.942T>C | p.(=) | Likely benign | VALIDATED |
| | 2013-08-16 |
L315V | exon 10 | c.943C>G | p.(Leu315Val) | Uncertain significance (VOUS) | VALIDATED |
| | 2013-02-05 |
L315Gfs*51 | exon 10 | c.943_944del | p.(Leu315Glyfs*51) | Likely pathogenic | VALIDATED |
| | 2013-08-16 |
C319S | exon 10 | c.956G>C | p.(Cys319Ser) | Unsolved | UNSOLVED |
| | 2011-05-26 |
V321A | exon 10 | c.962T>C | p.(Val321Ala) | Likely pathogenic | PROVISIONAL |
| | 2011-03-04 |
T322S | exon 10 | c.965C>G | p.(Thr322Ser) | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
R325R | exon 10 | c.975C>T | p.(=) | Likely benign | VALIDATED |
| | 2013-08-16 |
G326R | exon 10 | c.976G>A | p.(Gly326Arg) | Likely pathogenic | PROVISIONAL |
| | 2002-02-06 |
S329N | exon 10 | c.986G>A | p.(Ser329Asn) | Likely pathogenic | VALIDATED |
| | 2005-10-06 |
S329R | exon 10 | c.987C>A | p.(Ser329Arg) | Likely pathogenic | PROVISIONAL |
| | 2003-09-23 |
G333G | exon 10 | c.999C>T | p.(=) | Likely benign | VALIDATED |
| | 2013-08-16 |
A334T | exon 10 | c.1000G>A | p.(Ala334Thr) | Pathogenic | VALIDATED |
| | 2003-07-21 |
G335D | exon 10 | c.1004G>A | p.(Gly335Asp) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
G335A | exon 10 | c.1004G>C | p.(Gly335Ala) | Unsolved | UNSOLVED |
| | 2013-02-05 |
G335G | exon 10 | c.1005C>T | p.(=) | Likely benign | VALIDATED |
| | 2006-05-02 |
G336S | exon 10 | c.1006G>A | p.(Gly336Ser) | Likely pathogenic | VALIDATED |
| | 2006-05-02 |
G338D | exon 10 | c.1013G>A | p.(Gly338Asp) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
T342I | exon 10 | c.1025C>T | p.(Thr342Ile) | Likely pathogenic | To be validated |
| | 2019-02-08 |
L343P | exon 10 | c.1028T>C | p.(Leu343Pro) | Likely pathogenic | VALIDATED |
| | 2013-09-25 |
E296fs | intron 10 | c.1039+1G>T | p.(Glu296Glyfs*14) | Likely pathogenic | VALIDATED |
| | 2006-08-02 |
L348IfsX17 | intron 10 | c.1039+2T>C | p.(Leu348Ilefs*17) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
c.1039+7C>T | intron 10 | c.1039+7C>T | - | Likely benign | VALIDATED |
| | 2017-09-05 |
c.1040-1G>A | intron 10 | c.1040-1G>A | - | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
c.1057delTGGAGGCCACGAAG | exon 11 | c.1058_1071del | p.(Pro353Leufs*3) | Not classified | To be validated |
| | 2013-07-11 |
T356M | exon 11 | c.1067C>T | p.(Thr356Met) | Uncertain significance (VOUS) | VALIDATED |
| | 2004-12-16 |
L357fs | exon 11 | c.1071del | p.(Lys357Asnfs*4) | Likely pathogenic | VALIDATED |
| | 2012-01-30 |
S362I | exon 11 | c.1085G>T | p.(Ser362Ile) | Likely pathogenic | VALIDATED |
| | 2012-10-02 |
F364S | exon 11 | c.1094T>C | p.(Phe365Ser) | Likely pathogenic | VALIDATED |
| | 2013-02-05 |
D366fs | exon 11 | c.1095_1098del | p.(Asp366Alafs*110) | Likely pathogenic | VALIDATED |
| | 2006-09-21 |
C367S | exon 11 | c.1100G>C | p.(Cys367Ser) | Uncertain significance (VOUS) | VALIDATED |
| | 2006-05-02 |
I372M | exon 11 | c.1116C>G | p.(Ile372Met) | Uncertain significance (VOUS) | VALIDATED |
| | 2013-08-30 |
G376S | exon 11 | c.1126G>A | p.(Gly376Ser) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
G376V | exon 11 | c.1127G>T | p.(Gly376Val) | Likely pathogenic | VALIDATED |
| | 2004-12-16 |
V377I | exon 11 | c.1129G>A | p.(Val377Ile) | Pathogenic | VALIDATED |
| | 2002-02-05 |
S378P | exon 11 | c.1132T>C | p.(Ser378Pro) | Likely pathogenic | PROVISIONAL |
| | 2005-03-07 |
I379N | exon 11 | c.1136T>A | p.(Ile379Asn) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
H380R | exon 11 | c.1139A>G | p.(His380Arg) | Likely pathogenic | VALIDATED |
| | 2003-08-29 |
A382P | exon 11 | c.1144G>C | p.(Ala382Pro) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2012-12-03 |
S384F | exon 11 | c.1151C>T | p.(Ser384Phe) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2009-10-16 |
D386N | exon 11 | c.1156G>A | p.(Asp386Asn) | Uncertain significance (VOUS) | VALIDATED |
| | 2008-02-26 |
R388X | exon 11 | c.1162C>T | p.(Arg388*) | Pathogenic | VALIDATED |
| | 2006-05-10 |
Q390* | exon 11 | c.1168C>T | p.(Gln390*) | Not classified | To be validated |
| | 2018-04-03 |
Q390P | exon 11 | c.1169A>C | p.(Gln390Pro) | Likely pathogenic | VALIDATED |
| | 2011-03-04 |
Stop397R | exon 11 | c.1189T>C | p.*397Argext*34 | Pathogenic | VALIDATED |
| | 2012-06-13 |
c.1202C>T | 3UT | c.*11C>T | - | Uncertain significance (VOUS) | VALIDATED |
| | 2004-12-16 |
c.*35C>T | 3UT | c.*35C>T | - | Likely benign | VALIDATED |
| | 2017-09-05 |
1245-1246INSG | 3UT | c.*54_*55insG | - | Not classified | To be validated |
| | 2002-05-27 |
