ClinVar Miner

List of variants in gene NFIX reported as pathogenic for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000019.10:g.(?_13075535)_(13078735_?)del
NC_000019.10:g.(?_13087969)_(13094669_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)dup
NM_001365902.3(NFIX):c.1059del (p.Ala355fs)
NM_001365902.3(NFIX):c.1073_1076del (p.Arg358fs) rs2145459429
NM_001365902.3(NFIX):c.1204G>T (p.Glu402Ter)
NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter) rs760493118
NM_001365902.3(NFIX):c.1249G>T (p.Gly417Ter) rs1326313565
NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_001365902.3(NFIX):c.146_153dup (p.Glu52fs)
NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs) rs2145191473
NM_001365902.3(NFIX):c.179T>C (p.Leu60Pro) rs387907254
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter) rs2013234045
NM_001365902.3(NFIX):c.226_242del (p.Leu76fs) rs2145191979
NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter) rs1599738036
NM_001365902.3(NFIX):c.236T>C (p.Leu79Pro)
NM_001365902.3(NFIX):c.275_288del (p.Val92fs)
NM_001365902.3(NFIX):c.303dup (p.Cys102fs) rs886041304
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
NM_001365902.3(NFIX):c.31_47dup (p.Ile16fs)
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr) rs2145192459
NM_001365902.3(NFIX):c.338_342dup (p.Arg116fs) rs797045056
NM_001365902.3(NFIX):c.339_340dup (p.Ile114fs)
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln) rs2145192570
NM_001365902.3(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_001365902.3(NFIX):c.362G>C (p.Arg121Pro) rs387907255
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu) rs2145192745
NM_001365902.3(NFIX):c.413del (p.Lys138fs)
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs) rs1599737421
NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)
NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)
NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter) rs2145430763
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs) rs2013218777
NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)
NM_001365902.3(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_001365902.3(NFIX):c.73del (p.Ala25fs) rs1135401802
NM_001365902.3(NFIX):c.765_766del (p.Ile256fs) rs2145434937
NM_001365902.3(NFIX):c.935G>A (p.Trp312Ter) rs2145443002

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.