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 : 85

*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

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