TNFRSF1A (NM_001065.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for TNFRSF1A : 160

*This classification is proposed by the INSAID study group. Ref. If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
Q77H
exon 3
c.231G>T
p.(Gln77His)Uncertain significance (VOUS)To be validated
 2019-05-13
G204C
exon 6
c.610G>T
p.(Gly204Cys)Likely pathogenicTo be validated
 2019-05-13
c.769-5T>C
intron 8
c.769-5T>C
-Likely benignVALIDATED
 2017-09-05
c.15C>T
exon 1
c.15C>T
p.(=)Likely benignVALIDATED
 2017-08-21
C105Y
exon 3
c.314G>A
p.(Cys105Tyr )Likely pathogenicVALIDATED
 2017-08-18
C114R
exon 4
c.427T>C
p.(Cys143Arg)Likely pathogenicVALIDATED
 2017-08-18
C29W
exon 2
c.174C>G
p.(Cys58Trp)Likely pathogenicVALIDATED
 2017-08-18
c.81T>C
exon 2
c.81T>C
p.(=)Likely benignVALIDATED
 2017-08-18
C96R
exon 4
c.373T>C
p.(Cys125Arg)Likely pathogenicVALIDATED
 2017-08-16
I170T
exon 6
c.596T>C
p.(Ile199Thr)Not classifiedTo be validated
 2017-07-13
R283K
exon 9
c.935G>A
p.(Arg312Lys)Not classifiedTo be validated
 2017-02-22
C15Y
exon 2
c.131G>A
p.(Cys44Tyr)Likely pathogenicVALIDATED
 2017-01-23
T61P
exon 3
c.268A>C
p.(Thr90Pro)Not classifiedTo be validated
 2016-12-30
H126T
exon 4
c.463C>T
p.(His155Tyr)Not classifiedTo be validated
 2016-10-13
E56D
exon 3
c.255G>C
p.(Glu85Asp)Likely pathogenicVALIDATED
 2015-07-31
N65K
exon 3
c.282C>G
p.(Asn94Lys)Likely pathogenicVALIDATED
 2015-07-20
R104W
exon 4
c.397C>T
p.(Arg133Trp)Likely pathogenicVALIDATED
 2015-03-11
c.625+53C>T
intron 6
c.625+53C>T
-Likely benignVALIDATED
 2014-10-03
C96W
exon 4
c.375T>G
p.(Cys125Trp)PathogenicVALIDATED
 2014-09-26
C43F
exon 3
c.215G>T
p.(Cys72Phe)PathogenicVALIDATED
 2014-09-22
D42E
exon 3
c.213C>A
p.(Asp71Glu)Likely pathogenicPROVISIONAL
 2014-09-22
H66P
exon 3
c.284A>C
p.(His95Pro)Likely pathogenicPROVISIONAL
 2013-08-30
Y106C
exon 4
c.404A>G
p.(Tyr135Cys)Likely pathogenicPROVISIONAL
 2013-08-27
C29G
exon 2
c.172T>G
p.(Cys58Gly)PathogenicVALIDATED
 2013-08-16
R53G
exon 3
c.244A>G
p.(Arg82Gly)Uncertain significance (VOUS)PROVISIONAL
 2013-08-16
S57_E64del
exon 3
c.255_278del
p.(Ser86_Glu93del)Likely pathogenicVALIDATED
 2013-07-19
C114W
exon 4
c.429C>G
p.(Cys143Trp)Likely pathogenicVALIDATED
 2013-07-03
c.768+42delA
intron 8
c.768+42delA
-Likely benignVALIDATED
 2013-06-06
D93E
exon 4
c.366C>G
p.(Asp122Glu)Uncertain significance (VOUS)VALIDATED
 2013-05-06
c.472+17T>C
intron 4
c.472+17T>C
-Likely benignVALIDATED
 2013-05-06
R341R
exon 10
c.1110C>T
p.(=)Likely benignVALIDATED
 2013-05-06
C29S
exon 2
c.173G>C
p.(Cys58Ser)PathogenicVALIDATED
 2013-02-05
C98R
exon 4
c.379T>C
p.(Cys127Arg)PathogenicVALIDATED
 2013-02-05
F112L
exon 4
c.421T>C
p.(Phe141Leu)Likely pathogenicVALIDATED
 2013-02-05
G58S
exon 3
c.259G>A
p.(Gly87Ser)Likely pathogenicPROVISIONAL
 2013-02-05
D93H
exon 4
c.364G>C
p.(Asp122His)Likely pathogenicPROVISIONAL
 2013-02-05
T124T
exon 4
c.459C>T
p.(=)Likely benignVALIDATED
 2013-01-24
C96F
exon 4
c.374G>T
p.(Cys125Phe)PathogenicVALIDATED
 2012-10-30
Y20C
exon 2
c.146A>G
p.(Tyr49Cys)Likely pathogenicVALIDATED
 2012-10-23
V83M
exon 4
c.334G>A
p.(Val112Met)Likely pathogenicPROVISIONAL
 2012-07-03
I28S
exon 2
c.170T>G
p.(Ile57Ser)Uncertain significance (VOUS)VALIDATED
 2012-07-03
F112S
exon 4
c.422T>C
p.(Phe141Ser)Likely pathogenicVALIDATED
 2012-06-15
c.40-3367C>T
intron 1
c.40-3367C>T
-Likely benignVALIDATED
 2012-06-01
c.626-33
intron 6
c.626-33C>T
-Likely benignVALIDATED
 2012-02-21
c.194-80C>T
intron 2
c.194-80C>T
-Likely benignVALIDATED
 2011-12-22
S197C
exon 7
c.677C>G
p.(Ser226Cys)Uncertain significance (VOUS)VALIDATED
 2011-10-13
N101K
exon 4
c.390C>G
p.(Asn130Lys)Likely pathogenicPROVISIONAL
 2011-09-02
N25D
exon 2
c.160A>G
p.(Asn54Asp)Uncertain significance (VOUS)PROVISIONAL
 2011-09-02
c.59T>C
exon 2
c.59T>C
p.(Val20Ala)Uncertain significance (VOUS)PROVISIONAL
 2011-08-24
C88S
exon 4
c.350_351delinsCA
p.(Cys117Ser)Likely pathogenicVALIDATED
 2011-08-02
c.-559G>A
5 flanking
c.-559G>A
-Not classifiedTo be validated
 2011-06-10
c.39+97G>A
intron 1
c.39+97G>A
-Likely benignVALIDATED
 2011-06-10
c.40-981C>T
intron 1
c.40-981C>T
-Likely benignVALIDATED
 2011-06-10
L330L
exon 10
c.1075C>T
p.(=)Likely benignVALIDATED
 2011-06-10
C43G
exon 3
c.214T>G
p.(Cys72Gly)PathogenicVALIDATED
 2011-05-26
C29R
exon 2
c.172T>C
p.(Cys58Arg)PathogenicVALIDATED
 2011-05-17
c.626-32G>T
intron 6
c.626-32G>T
-Likely benignVALIDATED
 2010-09-29
F112C
exon 4
c.422T>G
p.(Phe141Cys)Likely pathogenicVALIDATED
 2010-08-31
c.769-23T>C
intron 8
c.769-23T>C
-Likely benignVALIDATED
 2010-07-28
Q82K
exon 4
c.331C>A
p.(Gln111Lys)Uncertain significance (VOUS)VALIDATED
2010-07-27
T89A
exon 4
c.352A>G
p.(Thr118Ala)Uncertain significance (VOUS)PROVISIONAL
 2010-04-06
Y103_R104DEL
exon 4
c.394_399del
p.(Tyr132_Arg133del)Likely pathogenicVALIDATED
 2010-03-18
H66L
exon 3
c.284A>T
p.(His95Leu)Likely pathogenicPROVISIONAL
 2010-02-09
C52W
exon 3
c.243C>G
p.(Cys81Trp)PathogenicVALIDATED
 2010-01-29
V83L
exon 4
c.334G>T
p.(Val112Leu)Likely pathogenicPROVISIONAL
2009-12-19
Y38S
exon 3
c.200A>C
p.(Tyr67Ser)Likely pathogenicVALIDATED
 2009-11-02
S59P
exon 3
c.262T>C
p.(Ser88Pro)Likely pathogenicVALIDATED
 2009-10-17
Y331X
exon 10
c.1080C>G
p.(Tyr360*)Likely pathogenicPROVISIONAL
 2009-03-30
H66Y
exon 3
c.283C>T
p.(His95Tyr)Likely pathogenicPROVISIONAL
 2008-12-22
H22R
exon 2
c.152A>G
p.(His51Arg)Likely pathogenicVALIDATED
 2008-12-08
T61N
exon 3
c.269C>A
p.(Thr90Asn)Likely pathogenicVALIDATED
 2008-08-05
N116S
exon 4
c.434A>G
p.(Asn145Ser)Uncertain significance (VOUS)VALIDATED
 2008-08-05
c.472+1G>A
intron 4
c.472+1G>A
p.(Cys158delinsYERSSPEAKPSPHPRG)Likely pathogenicVALIDATED
 2008-04-11
E109A
exon 4
c.413A>C
p.(Glu138Ala)Likely benignPROVISIONAL
 2008-02-25
V173D
exon 6
c.605T>A
p.(Val202Asp)Likely pathogenicPROVISIONAL
 2008-01-11
C52S
exon 3
c.242G>C
p.(Cys81Ser)PathogenicVALIDATED
 2007-09-04
H105P
exon 4
c.401A>C
p.(His134Pro)Uncertain significance (VOUS)PROVISIONAL
 2007-07-09
C30F
exon 2
c.176G>T
p.(Cys59Phe)PathogenicVALIDATED
 2007-05-21
S74C
exon 3
c.308C>G
p.(Ser103Cys)Likely pathogenicVALIDATED
 2007-05-21
323-32A>G
intron 3
c.323-32A>G
-Likely benignVALIDATED
 2007-01-06
S27S
exon 2
c.168G>A
p.(=)Likely benignVALIDATED
 2006-06-15
F60S
exon 3
c.266T>C
p.(Phe89Ser)Likely pathogenicVALIDATED
 2006-05-12
c.472+6C>T
intron 4
c.472+6C>T
-Likely benignVALIDATED
 2006-04-13
V95M
exon 4
c.370G>A
p.(Val124Met)Likely pathogenicVALIDATED
 2006-04-13
c.472+64C>T
intron 4
c.472+64C>T
-Likely benignVALIDATED
 2006-04-05
R92W
exon 4
c.361C>T
p.(Arg121Trp)Likely pathogenicPROVISIONAL
 2006-04-05
C52Y
exon 3
c.242G>A
p.(Cys81Tyr)PathogenicVALIDATED
 2006-03-09
C55Y
exon 3
c.251G>A
p.(Cys84Tyr)PathogenicVALIDATED
 2006-03-09
D12E
exon 2
c.123T>G
p.(Asp41Glu)Uncertain significance (VOUS)VALIDATED
 2006-03-09
L167_G175del
exon 6
c.586_612del27
p.(Leu196_Gly204del)Likely pathogenicVALIDATED
 2006-03-09
C29Y
exon 2
c.173G>A
p.(Cys58Tyr)PathogenicVALIDATED
 2006-03-09
G47G
exon 3
c.228G>A
p.(=)Likely benignVALIDATED
 2006-03-09
K157K
exon 6
c.558G>A
p.(=)Likely benignVALIDATED
 2006-03-09
F60V
exon 3
c.265T>G
p.(Phe89Val)Likely pathogenicVALIDATED
 2006-01-23
c.194-18_-17delCT
intron 2
c.194-18_194-17del
-Not classifiedTo be validated
 2006-01-09
F60L(267A>G)
exon 3
c.267C>A
p.(Phe89Leu)PathogenicVALIDATED
 2005-12-12
E54E
exon 3
c.249G>A
p.(=)Likely benignVALIDATED
 2005-07-26
c.552-89A>T
intron 5
c.552-89A>T
-Likely benignVALIDATED
 2005-05-19
C43S
exon 3
c.215G>C
p.(Cys72Ser)PathogenicVALIDATED
 2005-05-09
L39F
exon 3
c.204G>C
p.(Leu68Phe)Likely pathogenicVALIDATED
 2005-02-28
H69fs
exon 3
c.293_295del
p.(His98_Cys99delinsArg)Likely pathogenicVALIDATED
 2005-01-11
c.194-29G>A
intron 2
c.194-29G>A
-Likely benignVALIDATED
 2005-01-06
T94T
exon 4
c.369C>T
p.(=)Likely benignVALIDATED
 2004-12-10
c.194-15C>T
intron 2
c.194-15C>T
-Likely benignVALIDATED
 2004-12-07
S197S
exon 7
c.678C>G
p.(=)Likely benignVALIDATED
 2004-11-26
C70G
exon 3
c.295T>G
p.(Cys99Gly)PathogenicVALIDATED
 2004-10-25
R104Q
exon 4
c.398G>A
p.(Arg133Gln)Uncertain significance (VOUS)VALIDATED
 2004-10-25
C30Y
exon 2
c.176G>A
p.(Cys59Tyr)PathogenicVALIDATED
 2004-10-05
T61I
exon 3
c.269C>T
p.(Thr90Ile)Likely pathogenicPROVISIONAL
 2004-08-05
c.473-72G>A
intron 4
c.473-72G>A
-Likely benignVALIDATED
 2004-03-11
H22Q
exon 2
c.153C>G
p.(His51Gln)Likely pathogenicPROVISIONAL
 2004-02-10
C43Y
exon 3
c.215G>A
p.(Cys72Tyr)PathogenicVALIDATED
 2004-02-05
C55R
exon 3
c.250T>C
p.(Cys84Arg)PathogenicVALIDATED
 2004-02-05
c.473-16 G>A
intron 4
c.473-16G>A
-Likely benignVALIDATED
 2004-01-09
Y20D
exon 2
c.145T>G
p.(Tyr49Asp)PathogenicVALIDATED
 2003-11-21
C73W
exon 3
c.306C>G
p.(Cys102Trp)Likely pathogenicVALIDATED
 2003-10-20
T50K
exon 3
c.236C>A
p.(Thr79Lys)Likely pathogenicVALIDATED
 2003-09-16
I170N
exon 6
c.596T>A
p.(Ile199Asn)Likely pathogenicVALIDATED
 2003-08-18
c.218-9T>C
intron 7
c.740-9T>C
-Likely benignVALIDATED
 2003-08-05
-580 A/G
5 flanking
c.-581A>G
-Not classifiedTo be validated
 2003-08-04
-508 A/G
5 flanking
c.-508A>G
-Not classifiedTo be validated
 2003-07-14
c.39+1899(GT)n(GA)n
intron 1
c.39+1899(GT)17(GA)10
-Not classifiedTo be validated
 2003-07-14
c.625+10A/G
intron 6
c.625+10A>G
-Likely benignVALIDATED
 2003-07-14
D42DEL
exon 3
c.211_213delGAC
p.(Asp71del)PathogenicVALIDATED
 2003-05-16
F60L(264C>G)
exon 3
c.265T>C
p.(Phe89Leu)PathogenicVALIDATED
 2003-05-07
c.473-33C>T
intron 4
c.473-33T>C
-Likely benignVALIDATED
 2003-04-25
c.36 A>G
exon 1
c.36A>G
p.(=)BenignVALIDATED
 2003-04-25
-383 A/C
5 flanking
c.-383A>C
-Not classifiedTo be validated
 2003-04-25
T37I
exon 3
c.197C>T
p.(Thr66Ile)Likely pathogenicPROVISIONAL
 2003-04-23
-609 G/T
5 flanking
c.-610G>T
-Not classifiedTo be validated
 2003-04-23
N65I
exon 3
c.281A>T
p.(Asn94Ile)PathogenicVALIDATED
 2003-04-23
C98Y
exon 4
c.380G>A
p.(Cys127Tyr)PathogenicVALIDATED
 2003-02-14
c.193-14G>A
intron 2
c.194-14G>A
-PathogenicVALIDATED
 2003-02-12
C70S
exon 3
c.295T>A
p.(Cys99Ser)PathogenicVALIDATED
 2002-12-11
G36E
exon 3
c.194G>A
p.(Gly65Glu)Likely pathogenicVALIDATED
 2002-11-18
C43R
exon 3
c.214T>C
p.(Cys72Arg)PathogenicVALIDATED
 2002-10-31
Y20H
exon 2
c.145T>C
p.(Tyr49His)Likely pathogenicVALIDATED
 2002-10-25
C73R
exon 3
c.304T>C
p.(Cys102Arg)Likely pathogenicVALIDATED
 2002-09-21
F112I
exon 4
c.421T>A
p.(Phe141Ile)PathogenicVALIDATED
 2002-06-25
C96Y
exon 4
c.374G>A
p.(Cys125Tyr)PathogenicVALIDATED
 2002-06-25
L67P
exon 3
c.287T>C
p.(Leu96Pro)Likely pathogenicVALIDATED
 2002-06-25
C52R
exon 3
c.241T>C
p.(Cys81Arg)PathogenicVALIDATED
 2002-06-18
C70Y
exon 3
c.296G>A
p.(Cys99Tyr)PathogenicVALIDATED
 2002-03-18
P46L
exon 3
c.224C>T
p.(Pro75Leu)Uncertain significance (VOUS)VALIDATED
 2002-03-18
C70R
exon 3
c.295T>C
p.(Cys99Arg)PathogenicVALIDATED
 2002-02-12
Y38C
exon 3
c.200A>G
p.(Tyr67Cys)Likely pathogenicVALIDATED
 2002-02-12
C29F
exon 2
c.173G>T
p.(Cys58Phe)PathogenicVALIDATED
 2002-02-12
R92Q
exon 4
c.362G>A
p.(Arg121Gln)Uncertain significance (VOUS)VALIDATED
 2002-01-25
H22Y
exon 2
c.151C>T
p.(His51Tyr)PathogenicVALIDATED
 2002-01-25
S86P
exon 4
c.343T>C
p.(Ser115Pro)Likely pathogenicVALIDATED
 2002-01-14
C33G
exon 2
c.184T>G
p.(Cys62Gly)PathogenicVALIDATED
 2002-01-08
C30S
exon 2
c.176G>C
p.(Cys59Ser)PathogenicVALIDATED
 2002-01-03
C55S
exon 3
c.251G>C
p.(Cys84Ser)PathogenicVALIDATED
 2002-01-03
R92P
exon 4
c.362G>C
p.(Arg121Pro)Likely pathogenicVALIDATED
 2002-01-03
C30R
exon 2
c.175T>C
p.(Cys59Arg)PathogenicVALIDATED
 2002-01-02
C33Y
exon 2
c.185G>A
p.(Cys62Tyr)PathogenicVALIDATED
 2002-01-02
T50M
exon 3
c.236C>T
p.(Thr79Met)PathogenicVALIDATED
 2002-01-02
C52F
exon 3
c.242G>T
p.(Cys81Phe)PathogenicVALIDATED
 2002-01-02
C88R
exon 4
c.349T>C
p.(Cys117Arg)PathogenicVALIDATED
 2002-01-02
C88Y
exon 4
c.350G>A
p.(Cys117Tyr)PathogenicVALIDATED
 2002-01-02