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

Editor(s): Ivona AKSENTIJEVICH   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

🔎

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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
5 flankingc.-10646_-46-4514delp?PathogenicVALIDATED
 2017-04-27
5 flankingc.-2484delp.?Uncertain significance (VOUS)VALIDATED
 2017-04-27
5 flankingc.0p.0Not classifiedTo be validated
 2019-03-05
5UTc.-43C>Tp.?Uncertain significance (VOUS)To be validated
 2019-05-21
5UTc.-31A>Gp.?Not classifiedTo be validated
 2019-05-21
exon 2c.2T>Cp.(Met1Thr)PathogenicVALIDATED
 2014-02-25
exon 2c.25C>Tp.(Arg9Trp)Likely pathogenicTo be validated
 2019-05-21
exon 2c.73G>Tp.(Gly25Cys)Likely pathogenicVALIDATED
 2014-06-13
exon 2c.133C>Tp.(Arg45Trp)Uncertain significance (VOUS)To be validated
 2019-05-21
exon 2c.138G>Cp.(=)BenignVALIDATED
 2018-03-30
exon 2c.139G>Ap.(Gly47Arg)PathogenicVALIDATED
 2014-02-25
exon 2c.139G>Tp.(Gly47Trp)Likely pathogenicVALIDATED
 2015-09-17
exon 2c.140G>Cp.(Gly47Ala)PathogenicVALIDATED
 2014-02-25
exon 2c.140G>Tp.(Gly47Val)Likely pathogenicVALIDATED
 2014-02-26
exon 2c.143dupp.(Arg49Alafs*13)Likely pathogenicTo be validated
 2019-03-05
exon 2c.145C>Tp.(Arg49Trp)Uncertain significance (VOUS)VALIDATED
 2017-01-15
exon 2c.158delp.(Asn53Thrfs*12)Likely pathogenicTo be validated
 2019-02-28
exon 2c.159C>Tp.(=)BenignVALIDATED
 2014-03-11
exon 2c.163_165delp.(Lys55del)Likely pathogenicVALIDATED
 2017-04-27
exon 2c.270delp.(Lys90Asnfs*13)PathogenicVALIDATED
 2014-09-24
exon 2c.278T>Cp.(Ile93Thr)Likely pathogenicVALIDATED
 2014-02-25
exon 3c.326C>Ap.(Ala109Asp)PathogenicVALIDATED
 2014-02-25
exon 3c.336C>Gp.(His112Gln)PathogenicVALIDATED
 2014-02-25
exon 3c.385A>Cp.(Thr129Pro)Not classifiedTo be validated
 2018-10-07
exon 3c.427delp.(Ile143Serfs*41)PathogenicVALIDATED
 2017-04-27
exon 3c.476G>Ap.(Cys159Tyr)Likely pathogenicTo be validated
 2019-05-21
exon 3c.506G>Ap.(Arg169Gln)PathogenicVALIDATED
 2014-02-25
exon 3c.533T>Cp.(Phe178Ser)Likely pathogenicTo be validated
 2019-03-05
intron 3c.542+1G>A-Likely pathogenicTo be validated
 2019-03-06
intron 3c.542+7A>Gp.?Uncertain significance (VOUS)To be validated
 2019-05-21
exon 4c.578C>Tp.(Pro193Leu)Likely pathogenicVALIDATED
 2014-10-06
exon 4c.620T>Cp.(Phe207Ser)Not classifiedTo be validated
 2019-01-15
exon 4c.660C>Ap.(Tyr220*)Likely pathogenicTo be validated
 2019-03-05
exon 4c.706_708delp.(Tyr236del)Likely pathogenicTo be validated
 2019-03-06
exon 4c.712G>Ap.(Asp238Asn)Likely pathogenicVALIDATED
 2017-04-27
exon 4c.728T>Gp.(Met243Arg)Likely pathogenicVALIDATED
 2017-04-27
exon 4c.740C>Tp.(Ala247Val)Uncertain significance (VOUS)VALIDATED
 2017-01-15
exon 4c.746T>Cp.(Leu249Pro)Not classifiedTo be validated
 2018-10-09
exon 4c.752C>Tp.(Pro251Leu)Likely pathogenicVALIDATED
 2014-02-26
exon 4c.753G>Ap.(Pro251Pro)Likely pathogenicVALIDATED
 2017-04-27
intron 4c.753+2T>Ap.?Not classifiedTo be validated
 2019-05-21
intron 4c.753+168_754-229_1081+139_1082-92delp.(Val252Thrfs*7)PathogenicVALIDATED
 2018-03-29
exon 5c.781delinsCCATAp.(Asp261Profs*2)Likely pathogenicTo be validated
 2019-03-05
exon 5c.791G>Cp.(Trp264Ser)Likely pathogenicVALIDATED
 2014-02-26
exon 5c.794C>Gp.(Ser265*)Likely pathogenicTo be validated
 2019-03-05
exon 5c.872C>Tp.(Ser291Leu)Likely pathogenicVALIDATED
 2017-04-27
exon 6c.916C>Tp.(Arg306*)PathogenicVALIDATED
 2014-04-18
exon 6c.927G>Ap.(Met309Ile)Likely benignVALIDATED
 2017-01-15
exon 6c.934C>Tp.(Arg312*)Likely pathogenicVALIDATED
 2018-10-09
exon 6c.962G>Ap.(Gly321Glu)Likely pathogenicVALIDATED
 2018-03-23
intron 6c.973-69C>Gp.(=)Likely benignVALIDATED
 2017-12-14
intron 6c.973-2A>Gp.?Likely pathogenicVALIDATED
 2015-07-14
intron 6c.973-1G>A-Likely pathogenicTo be validated
 2019-03-06
exon 7c.973-?_1081+?delp.(Val325Thrfs*7)PathogenicVALIDATED
 2014-09-24
exon 7c.982G>Ap.(Glu328Lys)Likely pathogenicVALIDATED
 2017-04-27
exon 7c.984G>Cp.(Glu328Asp)Likely pathogenicVALIDATED
 2018-10-09
exon 7c.1004A>Gp.(His335Arg)BenignVALIDATED
 2014-09-24
exon 7c.1031C>Tp.(Pro344Leu)Likely pathogenicVALIDATED
 2018-10-09
exon 7c.1045G>Ap.(Val349Ile)Likely benignVALIDATED
 2017-06-24
exon 7c.1052T>Ap.(Leu351Gln)Likely pathogenicTo be validated
 2019-05-21
exon 7c.1057T>Cp.(Tyr353His)Likely pathogenicTo be validated
 2019-04-04
exon 7c.1065C>Ap.(Phe355Leu)Likely pathogenicVALIDATED
 2017-04-27
exon 7c.1069G>Ap.(Ala357Thr)Likely pathogenicTo be validated
 2019-05-21
exon 7c.1072G>Ap.(Gly358Arg)Likely pathogenicTo be validated
 2019-03-05
exon 7c.1078A>Gp.(Thr360Ala)Likely pathogenicVALIDATED
 2014-08-01
intron 7c.1081+30C>Ap.(=)Uncertain significance (VOUS)VALIDATED
 2017-12-14
intron 7c.1081+1613_*8176delp.(Asp361_Lys511delinsVal)Not classifiedTo be validated
 2018-10-08
exon 8c.1110C>Ap.(Asn370Lys)Likely pathogenicVALIDATED
 2017-04-27
exon 8c.1147G>Ap.(Gly383Ser)Likely pathogenicVALIDATED
 2014-08-01
exon 8c.1173C>Gp.(His391Gln)Likely pathogenicTo be validated
 2019-05-21
exon 8c.1213A>Tp.(Ile405Leu)Not classifiedTo be validated
 2019-05-21
exon 8c.1223G>Ap.(Cys408Tyr)PathogenicVALIDATED
 2017-08-25
intron 8c.1240-5C>G-BenignVALIDATED
 2014-09-24
exon 9c.1240G>Ap.(Val414Met)Likely pathogenicTo be validated
 2019-03-05
exon 9c.1337T>Cp.(Phe446Ser)Likely pathogenicTo be validated
 2019-03-05
exon 9c.1348G>Tp.(Gly450Cys)Likely pathogenicVALIDATED
 2017-04-27
exon 9c.1353G>Tp.(Leu451Phe)Likely pathogenicTo be validated
 2019-03-05
exon 9c.1358A>Gp.(Tyr453Cys)PathogenicVALIDATED
 2014-02-25
exon 9c.1359T>Cp.(=)BenignVALIDATED
 2014-09-24
exon 9c.1367A>Gp.(Tyr456Cys)Likely pathogenicVALIDATED
 2018-04-04
exon 9c.1373T>Ap.(Val458Asp)Likely pathogenicVALIDATED
 2018-10-07
intron 9c.1442+6T>Cp.?Uncertain significance (VOUS)To be validated
 2019-05-21
intron 9c.1442+11T>C-BenignVALIDATED
 2014-09-24
intron 9c.1442+31G>A-BenignVALIDATED
 2014-09-24
3UTc.*159G>Ap.?Not classifiedTo be validated
 2019-05-21