ClinVar Miner

List of variants in gene PIK3R2 reported as uncertain significance for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) rs201531496 0.00008
NM_005027.4(PIK3R2):c.1290+4C>T rs376614345 0.00008
NM_005027.4(PIK3R2):c.481G>A (p.Asp161Asn) rs1208639269 0.00006
NM_005027.4(PIK3R2):c.107C>T (p.Ala36Val) rs768075445 0.00005
NM_005027.4(PIK3R2):c.1428G>T (p.Met476Ile) rs200508580 0.00004
NM_005027.4(PIK3R2):c.145C>T (p.Arg49Cys) rs1022260890 0.00004
NM_005027.4(PIK3R2):c.271C>T (p.Arg91Trp) rs752430880 0.00004
NM_005027.4(PIK3R2):c.59C>T (p.Pro20Leu) rs929809973 0.00003
NM_005027.4(PIK3R2):c.1288C>G (p.Gln430Glu) rs754971694 0.00002
NM_005027.4(PIK3R2):c.1532G>A (p.Arg511His) rs566152147 0.00002
NM_005027.4(PIK3R2):c.1042C>A (p.Pro348Thr) rs368358984 0.00001
NM_005027.4(PIK3R2):c.1157A>G (p.His386Arg) rs750258489 0.00001
NM_005027.4(PIK3R2):c.1513T>C (p.Tyr505His) rs2043808995 0.00001
NM_005027.4(PIK3R2):c.1543G>A (p.Glu515Lys) rs765672206 0.00001
NM_005027.4(PIK3R2):c.1640G>A (p.Arg547Gln) rs200781840 0.00001
NM_005027.4(PIK3R2):c.2120C>T (p.Ala707Val) rs772782368 0.00001
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) rs920139065 0.00001
NM_005027.4(PIK3R2):c.56G>A (p.Arg19Gln) rs754693011 0.00001
NC_000019.10:g.(?_18167110)_(18169314_?)dup
NM_005027.4(PIK3R2):c.1003A>G (p.Ile335Val)
NM_005027.4(PIK3R2):c.1026G>C (p.Glu342Asp)
NM_005027.4(PIK3R2):c.1034G>A (p.Arg345Gln)
NM_005027.4(PIK3R2):c.103C>T (p.Arg35Trp)
NM_005027.4(PIK3R2):c.1099C>G (p.Leu367Val) rs903373803
NM_005027.4(PIK3R2):c.1109+1G>A
NM_005027.4(PIK3R2):c.1113A>G (p.Lys371=)
NM_005027.4(PIK3R2):c.1124A>G (p.Asn375Ser) rs1421203694
NM_005027.4(PIK3R2):c.1192G>C (p.Val398Leu) rs771756537
NM_005027.4(PIK3R2):c.119C>T (p.Ala40Val)
NM_005027.4(PIK3R2):c.1216C>T (p.Arg406Cys)
NM_005027.4(PIK3R2):c.1361A>G (p.Gln454Arg)
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
NM_005027.4(PIK3R2):c.1529G>A (p.Arg510Gln)
NM_005027.4(PIK3R2):c.1576G>A (p.Glu526Lys)
NM_005027.4(PIK3R2):c.1652C>T (p.Ser551Leu)
NM_005027.4(PIK3R2):c.1694C>A (p.Pro565Gln) rs1131691683
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005027.4(PIK3R2):c.1736+5G>C
NM_005027.4(PIK3R2):c.1736+6T>G
NM_005027.4(PIK3R2):c.1809-3_1809-2insCCCCCCG rs2043834247
NM_005027.4(PIK3R2):c.1883A>G (p.Asn628Ser)
NM_005027.4(PIK3R2):c.1903A>G (p.Met635Val)
NM_005027.4(PIK3R2):c.1955G>A (p.Arg652Gln)
NM_005027.4(PIK3R2):c.1977G>T (p.Val659=)
NM_005027.4(PIK3R2):c.1980-16_1980-3del
NM_005027.4(PIK3R2):c.1988_1989delinsAA (p.Gly663Glu)
NM_005027.4(PIK3R2):c.199C>T (p.Arg67Ter) rs2147945157
NM_005027.4(PIK3R2):c.2063C>T (p.Ser688Leu)
NM_005027.4(PIK3R2):c.2152G>T (p.Ala718Ser)
NM_005027.4(PIK3R2):c.2153C>T (p.Ala718Val)
NM_005027.4(PIK3R2):c.2169GCC[1] (p.Pro725del)
NM_005027.4(PIK3R2):c.259G>A (p.Gly87Ser)
NM_005027.4(PIK3R2):c.259_263del (p.Gly87fs)
NM_005027.4(PIK3R2):c.266G>A (p.Arg89His)
NM_005027.4(PIK3R2):c.274G>T (p.Gly92Cys)
NM_005027.4(PIK3R2):c.280C>T (p.Arg94Cys)
NM_005027.4(PIK3R2):c.292G>A (p.Ala98Thr)
NM_005027.4(PIK3R2):c.29G>A (p.Arg10His) rs1371555508
NM_005027.4(PIK3R2):c.31G>T (p.Ala11Ser)
NM_005027.4(PIK3R2):c.328A>G (p.Thr110Ala)
NM_005027.4(PIK3R2):c.329C>G (p.Thr110Arg)
NM_005027.4(PIK3R2):c.338A>C (p.Asp113Ala)
NM_005027.4(PIK3R2):c.346G>A (p.Glu116Lys)
NM_005027.4(PIK3R2):c.459_460delinsAG (p.Arg154Gly)
NM_005027.4(PIK3R2):c.46C>G (p.Arg16Gly)
NM_005027.4(PIK3R2):c.496G>C (p.Asp166His)
NM_005027.4(PIK3R2):c.64_88dup (p.Val30fs) rs2043673731
NM_005027.4(PIK3R2):c.821A>C (p.Glu274Ala) rs2043752967
NM_005027.4(PIK3R2):c.827G>A (p.Ser276Asn)
NM_005027.4(PIK3R2):c.82G>A (p.Gly28Ser) rs112165780
NM_005027.4(PIK3R2):c.867G>A (p.Gln289=)
NM_005027.4(PIK3R2):c.877G>A (p.Glu293Lys)
NM_005027.4(PIK3R2):c.937T>G (p.Ser313Ala)
NM_005027.4(PIK3R2):c.949G>A (p.Ala317Thr)
NM_005027.4(PIK3R2):c.965C>T (p.Pro322Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.