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 : 72

*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
intron 3c.542+1G>A-Likely pathogenicTo be validated
 2019-03-06
intron 6c.973-1G>A-Likely pathogenicTo be validated
 2019-03-06
exon 4c.706_708delp.Tyr236delLikely pathogenicTo be validated
 2019-03-06
exon 9c.1337T>Cp.Phe446SerLikely pathogenicTo be validated
 2019-03-05
exon 9c.1240G>Ap.Val414MetLikely pathogenicTo be validated
 2019-03-05
5 flankingc.0p.0Not classifiedTo be validated
 2019-03-05
exon 3c.533T>Cp.Phe178SerLikely pathogenicTo be validated
 2019-03-05
exon 9c.1353G>Tp.Leu451PheLikely pathogenicTo be validated
 2019-03-05
exon 2c.143dupp.Arg49Alafs*13Likely pathogenicTo be validated
 2019-03-05
exon 5c.781delinsCCATAp.Asp261Profs*2Likely pathogenicTo be validated
 2019-03-05
exon 3c.1072G>Ap.Gly358ArgLikely pathogenicTo be validated
 2019-03-05
exon 5c.794C>Gp.Ser265*Likely pathogenicTo be validated
 2019-03-05
exon 4c.660C>Ap.Tyr220*Likely pathogenicTo be validated
 2019-03-05
exon 2c.158delp.(Asn53Thrfs*12)Likely pathogenicTo be validated
 2019-02-28
exon 4c.620T>Cp.Phe207SerNot classifiedTo be validated
 2019-01-15
exon 7c.984G>Cp.Glu328AspLikely pathogenicVALIDATED
 2018-10-09
exon 4c.746T>Cp.Leu249ProNot classifiedTo be validated
 2018-10-09
exon 7c.1031C>Tp.Pro344LeuLikely pathogenicVALIDATED
 2018-10-09
exon 6c.934C>Tp.Arg312*Likely pathogenicVALIDATED
 2018-10-09
exon 8c.1081+1613_*8176delp.Asp361_Lys511delinsValNot classifiedTo be validated
 2018-10-08
exon 3c.385A>Cp.Thr129ProNot classifiedTo be validated
 2018-10-07
exon 9c.1373T>Ap.Val458AspLikely pathogenicVALIDATED
 2018-10-07
exon 1c.-114delCp?Not classifiedTo be validated
 2018-10-07
exon 9c.1367A>Gp.Tyr456CysLikely pathogenicVALIDATED
 2018-04-04
exon 2c.138G>Cp.(=)BenignVALIDATED
 2018-03-30
intron 4c.(753+168_754-229)_(1081+139_1082-92)delp.Val252Thrfs*7PathogenicVALIDATED
 2018-03-29
exon 6c.962G>Ap.Gly321GluLikely pathogenicVALIDATED
 2018-03-23
intron 6c.973-69C>Gp.(=)Likely benignVALIDATED
 2017-12-14
intron 7c.1081+30C>Ap.(=)Uncertain significance (VOUS)VALIDATED
 2017-12-14
exon 8c.1223G>Ap.Cys408TyrPathogenicVALIDATED
 2017-08-25
exon 7c.1045G>Ap.Val349IleLikely benignVALIDATED
 2017-06-24
5 flankingc.-10646_-46-4514delp?PathogenicVALIDATED
 2017-04-27
exon 2c.163_165delp.Lys55delLikely pathogenicVALIDATED
 2017-04-27
exon 8c.1110C>Ap.Asn370LysLikely pathogenicVALIDATED
 2017-04-27
exon 4c.728T>Gp.Met243ArgLikely pathogenicVALIDATED
 2017-04-27
5 flankingc.-2484delGp?Uncertain significance (VOUS)VALIDATED
 2017-04-27
exon 7c.1065C>Ap.Phe355LeuLikely pathogenicVALIDATED
 2017-04-27
exon 7c.982G>Ap.Glu328LysLikely pathogenicVALIDATED
 2017-04-27
exon 9c.1348G>Tp.Gly450CysLikely pathogenicVALIDATED
 2017-04-27
exon 3c.427delp.Ile143Serfs*41PathogenicVALIDATED
 2017-04-27
exon 4c.712G>Ap.Asp238AsnLikely pathogenicVALIDATED
 2017-04-27
exon 5c.872C>Tp.Ser291LeuLikely pathogenicVALIDATED
 2017-04-27
exon 4c.753G>Ap.Pro251ProLikely pathogenicVALIDATED
 2017-04-27
exon 2c.145C>Tp.Arg49TrpUncertain significance (VOUS)VALIDATED
 2017-01-15
exon 6c.927G>Ap.Met309IleLikely benignVALIDATED
 2017-01-15
exon 4c.740C>Tp.Ala247ValUncertain significance (VOUS)VALIDATED
 2017-01-15
exon 2c.139G>Tp.Gly47TrpLikely pathogenicVALIDATED
 2015-09-17
intron 6c.973-2A>Gp.?Likely pathogenicVALIDATED
 2015-07-14
exon 4c.578C>Tp.Pro193LeuLikely pathogenicVALIDATED
 2014-10-06
exon 7c.973-?_1081+?delp.Val325Thrfs*7PathogenicVALIDATED
 2014-09-24
exon 2c.144delGp.Arg49Glyfs*4PathogenicVALIDATED
 2014-09-24
exon 7c.1004A>Gp.His335ArgBenignVALIDATED
 2014-09-24
intron 8c.1240-5C>G-BenignVALIDATED
 2014-09-24
exon 9c.1359T>Cp.(=)BenignVALIDATED
 2014-09-24
intron 9c.1442+11T>C-BenignVALIDATED
 2014-09-24
intron 9c.1442+31G>A-BenignVALIDATED
 2014-09-24
exon 7c.1078A>Gp.Thr360AlaLikely pathogenicVALIDATED
 2014-08-01
exon 8c.1147G>Ap.Gly383SerLikely pathogenicVALIDATED
 2014-08-01
exon 2c.73G>Tp.Gly25CysLikely pathogenicVALIDATED
 2014-06-13
exon 6c.916C>Tp.Arg306*PathogenicVALIDATED
 2014-04-18
exon 2c.159C>Tp.(=)BenignVALIDATED
 2014-03-11
exon 2c.140G>Tp.Gly47ValLikely pathogenicVALIDATED
 2014-02-26
exon 5c.791G>Cp.Trp264SerLikely pathogenicVALIDATED
 2014-02-26
exon 4c.752C>Tp.Pro251LeuLikely pathogenicVALIDATED
 2014-02-26
exon 2c.2T>Cp.Met1ThrPathogenicVALIDATED
 2014-02-25
exon 2c.139G>Ap.Gly47ArgPathogenicVALIDATED
 2014-02-25
exon 2c.140G>Cp.Gly47AlaPathogenicVALIDATED
 2014-02-25
exon 2c.278T>Cp.Ile93ThrLikely pathogenicVALIDATED
 2014-02-25
exon 3c.326C>Ap.Ala109AspPathogenicVALIDATED
 2014-02-25
exon 3c.336C>Gp.His112GlnPathogenicVALIDATED
 2014-02-25
exon 3c.506G>Ap.Arg169GlnPathogenicVALIDATED
 2014-02-25
exon 9c.1358A>Gp.Tyr453CysPathogenicVALIDATED
 2014-02-25