ADA2 (NM_001282225.1) sequence variants
(PAN, ADGF, CECR1, IDGFL, SNEDS)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for ADA2 : 89

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 4
c.548T>C
p.(Leu183Pro)
L183P
Uncertain significance (VOUS)To be validated
 2019-07-16
exon 9
c.1435T>C
p.(Ser479Pro)
S479P
Uncertain significance (VOUS)To be validated
 2019-07-16
intron 5
c.882-2A>G
p.?
c.882-2A>G
Likely pathogenicTo be validated
 2019-07-11
exon 6
c.932T>G
p.(Leu311Arg)
L311R
Likely pathogenicTo be validated
 2019-07-11
exon 2
c.25C>T
p.(Arg9Trp)
R9W
Likely pathogenicTo be validated
 2019-05-21
exon 7
c.1069G>A
p.(Ala357Thr)
A357T
Likely pathogenicTo be validated
 2019-05-21
exon 7
c.1052T>A
p.(Leu351Gln)
L351Q
Likely pathogenicTo be validated
 2019-05-21
exon 8
c.1173C>G
p.(His391Gln)
H391Q
Likely pathogenicTo be validated
 2019-05-21
exon 2
c.133C>T
p.(Arg45Trp)
R45W
Uncertain significance (VOUS)To be validated
 2019-05-21
intron 9
c.1442+6T>C
p.?
1442+6T>C
Uncertain significance (VOUS)To be validated
 2019-05-21
5UT
c.-43C>T
p.?
-43C>T
Uncertain significance (VOUS)To be validated
 2019-05-21
exon 3
c.476G>A
p.(Cys159Tyr)
C159Y
Likely pathogenicTo be validated
 2019-05-21
intron 3
c.542+7A>G
p.?
542+7A>G
Uncertain significance (VOUS)To be validated
 2019-05-21
intron 4
c.753+2T>A
p.?
753+2T>A
Not classifiedTo be validated
 2019-05-21
5UT
c.-31A>G
p.?
-31A>G
Not classifiedTo be validated
 2019-05-21
3UT
c.*159G>A
p.?
*159G>A
Not classifiedTo be validated
 2019-05-21
exon 8
c.1213A>T
p.(Ile405Leu)
I405L
Not classifiedTo be validated
 2019-05-21
exon 7
c.1057T>C
p.(Tyr353His)
Y353H
Likely pathogenicTo be validated
 2019-04-04
intron 3
c.542+1G>A
-
c.542+1G>A
Likely pathogenicTo be validated
 2019-03-06
intron 6
c.973-1G>A
-
c.973-1G>A
Likely pathogenicTo be validated
 2019-03-06
exon 4
c.706_708del
p.(Tyr236del)
Y236del
Likely pathogenicTo be validated
 2019-03-06
exon 9
c.1337T>C
p.(Phe446Ser)
F404S
Likely pathogenicTo be validated
 2019-03-05
exon 9
c.1240G>A
p.(Val414Met)
V372M
Likely pathogenicTo be validated
 2019-03-05
5 flanking
c.0
p.0
del(22)(q11.)1
Not classifiedTo be validated
 2019-03-05
exon 3
c.533T>C
p.(Phe178Ser)
F178S
Likely pathogenicTo be validated
 2019-03-05
exon 9
c.1353G>T
p.(Leu451Phe)
L451F
Likely pathogenicTo be validated
 2019-03-05
exon 2
c.143dup
p.(Arg49Alafs*13)
R49Afs*13
Likely pathogenicTo be validated
 2019-03-05
exon 5
c.781delinsCCATA
p.(Asp261Profs*2)
D261Pfs*2
Likely pathogenicTo be validated
 2019-03-05
exon 7
c.1072G>A
p.(Gly358Arg)
G358R
Likely pathogenicTo be validated
 2019-03-05
exon 5
c.794C>G
p.(Ser265*)
S265X
Likely pathogenicTo be validated
 2019-03-05
exon 4
c.660C>A
p.(Tyr220*)
Y220X
Likely pathogenicTo be validated
 2019-03-05
exon 2
c.158del
p.(Asn53Thrfs*12)
c.158del
Likely pathogenicTo be validated
 2019-02-28
exon 4
c.620T>C
p.(Phe207Ser)
P207S
Not classifiedTo be validated
 2019-01-15
exon 7
c.984G>C
p.(Glu328Asp)
E328D
Likely pathogenicVALIDATED
 2018-10-09
exon 4
c.746T>C
p.(Leu249Pro)
L249P
Not classifiedTo be validated
 2018-10-09
exon 7
c.1031C>T
p.(Pro344Leu)
P344L
Likely pathogenicVALIDATED
 2018-10-09
exon 6
c.934C>T
p.(Arg312*)
R312ter
Likely pathogenicVALIDATED
 2018-10-09
intron 7
c.1081+1613_*8176del
p.(Asp361_Lys511delinsVal)
DelEx8-9-10
Not classifiedTo be validated
 2018-10-08
exon 3
c.385A>C
p.(Thr129Pro)
T129P
Not classifiedTo be validated
 2018-10-07
exon 9
c.1373T>A
p.(Val458Asp)
V458D
Likely pathogenicVALIDATED
 2018-10-07
exon 9
c.1367A>G
p.(Tyr456Cys)
Y456C
Likely pathogenicVALIDATED
 2018-04-04
exon 2
c.138G>C
p.(=)
c.138G>C
BenignVALIDATED
 2018-03-30
intron 4
c.753+168_754-229_1081+139_1082-92del
p.(Val252Thrfs*7)
Del E5-6-7
PathogenicVALIDATED
 2018-03-29
exon 6
c.962G>A
p.(Gly321Glu)
G321E
Likely pathogenicVALIDATED
 2018-03-23
intron 6
c.973-69C>G
p.(=)
c.973-69C->G
Likely benignVALIDATED
 2017-12-14
intron 7
c.1081+30C>A
p.(=)
c.1081+30C->A
Uncertain significance (VOUS)VALIDATED
 2017-12-14
exon 8
c.1223G>A
p.(Cys408Tyr)
C408Y
PathogenicVALIDATED
 2017-08-25
exon 7
c.1045G>A
p.(Val349Ile)
V349I
Likely benignVALIDATED
 2017-06-24
5 flanking
c.-10646_-46-4514del
p?
del EXON 1
PathogenicVALIDATED
 2017-04-27
exon 2
c.163_165del
p.(Lys55del)
K13del
Likely pathogenicVALIDATED
 2017-04-27
exon 8
c.1110C>A
p.(Asn370Lys)
N370K
Likely pathogenicVALIDATED
 2017-04-27
exon 4
c.728T>G
p.(Met243Arg)
M243R
Likely pathogenicVALIDATED
 2017-04-27
5 flanking
c.-2484del
p.?
c.-114delC
Uncertain significance (VOUS)VALIDATED
 2017-04-27
exon 7
c.1065C>A
p.(Phe355Leu)
F355L
Likely pathogenicVALIDATED
 2017-04-27
exon 7
c.982G>A
p.(Glu328Lys)
E328K
Likely pathogenicVALIDATED
 2017-04-27
exon 9
c.1348G>T
p.(Gly450Cys)
G450C
Likely pathogenicVALIDATED
 2017-04-27
exon 3
c.427del
p.(Ile143Serfs*41)
I143Sfs*41
PathogenicVALIDATED
 2017-04-27
exon 4
c.712G>A
p.(Asp238Asn)
D238N
Likely pathogenicVALIDATED
 2017-04-27
exon 5
c.872C>T
p.(Ser291Leu)
S291L
Likely pathogenicVALIDATED
 2017-04-27
exon 4
c.753G>A
p.(Pro251Pro)
P251P
Likely pathogenicVALIDATED
 2017-04-27
exon 2
c.145C>T
p.(Arg49Trp)
R49W
Uncertain significance (VOUS)VALIDATED
 2017-01-15
exon 6
c.927G>A
p.(Met309Ile)
M309I
Likely benignVALIDATED
 2017-01-15
exon 4
c.740C>T
p.(Ala247Val)
A247V
Uncertain significance (VOUS)VALIDATED
 2017-01-15
exon 2
c.139G>T
p.(Gly47Trp)
G47W
Likely pathogenicVALIDATED
 2015-09-17
intron 6
c.973-2A>G
p.?
c.973-2A>G
Likely pathogenicVALIDATED
 2015-07-14
exon 4
c.578C>T
p.(Pro193Leu)
P193L
Likely pathogenicVALIDATED
 2014-10-06
exon 7
c.973-?_1081+?del
p.(Val325Thrfs*7)
delEx7
PathogenicVALIDATED
 2014-09-24
exon 2
c.144del
p.(Arg49Glyfs*4)
c.144delG
PathogenicVALIDATED
 2014-09-24
exon 7
c.1004A>G
p.(His335Arg)
H335R
BenignVALIDATED
 2014-09-24
intron 8
c.1240-5C>G
-
c.1240-5C>G
BenignVALIDATED
 2014-09-24
exon 9
c.1359T>C
p.(=)
Y453Y
BenignVALIDATED
 2014-09-24
intron 9
c.1442+11T>C
-
c.1442+11T>C
BenignVALIDATED
 2014-09-24
intron 9
c.1442+31G>A
-
c.1442+31G>A
BenignVALIDATED
 2014-09-24
exon 7
c.1078A>G
p.(Thr360Ala)
T119A
Likely pathogenicVALIDATED
 2014-08-01
exon 8
c.1147G>A
p.(Gly383Ser)
G142S
Likely pathogenicVALIDATED
 2014-08-01
exon 2
c.73G>T
p.(Gly25Cys)
G25C
Likely pathogenicVALIDATED
 2014-06-13
exon 6
c.916C>T
p.(Arg306*)
R306*
PathogenicVALIDATED
 2014-04-18
exon 2
c.159C>T
p.(=)
N53N
BenignVALIDATED
 2014-03-11
exon 2
c.140G>T
p.(Gly47Val)
G47V
Likely pathogenicVALIDATED
 2014-02-26
exon 5
c.791G>C
p.(Trp264Ser)
W264S
Likely pathogenicVALIDATED
 2014-02-26
exon 4
c.752C>T
p.(Pro251Leu)
P251L
Likely pathogenicVALIDATED
 2014-02-26
exon 2
c.2T>C
p.(Met1Thr)
M1T
PathogenicVALIDATED
 2014-02-25
exon 2
c.139G>A
p.(Gly47Arg)
G47R
PathogenicVALIDATED
 2014-02-25
exon 2
c.140G>C
p.(Gly47Ala)
G47A
PathogenicVALIDATED
 2014-02-25
exon 2
c.278T>C
p.(Ile93Thr)
I93T
Likely pathogenicVALIDATED
 2014-02-25
exon 3
c.326C>A
p.(Ala109Asp)
A109D
PathogenicVALIDATED
 2014-02-25
exon 3
c.336C>G
p.(His112Gln)
H112Q
PathogenicVALIDATED
 2014-02-25
exon 3
c.506G>A
p.(Arg169Gln)
R169Q
PathogenicVALIDATED
 2014-02-25
exon 9
c.1358A>G
p.(Tyr453Cys)
Y453C
PathogenicVALIDATED
 2014-02-25