ClinVar Miner

List of variants in gene IRF2BPL reported as pathogenic for neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
IRF2BPL, 2-BP DEL, 2135GT
NM_024496.4(IRF2BPL):c.1115C>G (p.Pro372Arg) rs1555377336
NM_024496.4(IRF2BPL):c.1254G>C (p.Lys418Asn) rs201073695
NM_024496.4(IRF2BPL):c.1489C>T (p.Gln497Ter) rs2140377628
NM_024496.4(IRF2BPL):c.1693C>T (p.Gln565Ter) rs1466417547
NM_024496.4(IRF2BPL):c.1703_1706dup (p.Trp569Ter) rs1885106828
NM_024496.4(IRF2BPL):c.2028C>G (p.Asn676Lys)
NM_024496.4(IRF2BPL):c.2102del (p.Asn701fs)
NM_024496.4(IRF2BPL):c.2135_2136insGT (p.Leu713fs) rs1885090260
NM_024496.4(IRF2BPL):c.2160del (p.Glu720fs)
NM_024496.4(IRF2BPL):c.280_308del (p.Ala94fs)
NM_024496.4(IRF2BPL):c.376C>T (p.Gln126Ter) rs1555377483
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter) rs1292724234
NM_024496.4(IRF2BPL):c.449del (p.Gly150fs) rs2139976167
NM_024496.4(IRF2BPL):c.475del (p.Ala159fs)
NM_024496.4(IRF2BPL):c.496G>T (p.Glu166Ter) rs2139976004
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) rs1566786613
NM_024496.4(IRF2BPL):c.521_527del (p.Pro174fs)
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024496.4(IRF2BPL):c.599_608del (p.Pro200fs) rs1594797739
NM_024496.4(IRF2BPL):c.962del (p.Ala321fs) rs1566786207

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.