ClinVar Miner

List of variants studied for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NC_000019.10:g.(?_13075535)_(13078735_?)del
NC_000019.10:g.(?_13087969)_(13094669_?)del
NC_000019.9:g.(?_13106632)_(13428155_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)dup
NM_001365902.3(NFIX):c.113G>A (p.Arg38His)
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)
NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)
NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser)
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=)
NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro)
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter)
NM_001365902.3(NFIX):c.220del (p.Arg74fs)
NM_001365902.3(NFIX):c.28-327C>T
NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp)
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)
NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg)
NM_001365902.3(NFIX):c.446G>C (p.Arg149Pro)
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)
NM_001365902.3(NFIX):c.772del (p.Gln258fs)
NM_001365902.3(NFIX):c.818+1G>A
NM_001365902.3(NFIX):c.818+5G>A
NM_001365902.3(NFIX):c.843C>T (p.Ile281=)
NM_002501.4(NFIX):c.1140G>A (p.Ser380=) rs201174259
NM_002501.4(NFIX):c.1143C>T (p.Ser381=) rs777733912
NM_002501.4(NFIX):c.117G>A (p.Lys39=) rs148229471
NM_002501.4(NFIX):c.1236G>A (p.Ser412=) rs367955217
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_002501.4(NFIX):c.138G>A (p.Lys46=) rs1599737654
NM_002501.4(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_002501.4(NFIX):c.143T>C (p.Met48Thr) rs1555696484
NM_002501.4(NFIX):c.179T>C (p.Leu60Pro) rs387907254
NM_002501.4(NFIX):c.183G>A (p.Leu61=) rs369196245
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter) rs1599738036
NM_002501.4(NFIX):c.252G>T (p.Arg84=) rs769513682
NM_002501.4(NFIX):c.303dup (p.Cys102fs) rs886041304
NM_002501.4(NFIX):c.309C>T (p.Cys103=) rs376885081
NM_002501.4(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_002501.4(NFIX):c.338_342dup (p.Arg116fs) rs797045056
NM_002501.4(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_002501.4(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_002501.4(NFIX):c.362G>C (p.Arg121Pro) rs387907255
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs) rs1599737421
NM_002501.4(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_002501.4(NFIX):c.560-6C>T rs1008207585
NM_002501.4(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_002501.4(NFIX):c.600G>A (p.Ala200=) rs367591626
NM_002501.4(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_002501.4(NFIX):c.73del (p.Ala25fs) rs1135401802
NM_002501.4(NFIX):c.787C>T (p.Arg263Trp) rs1568316909
NM_002501.4(NFIX):c.955+2T>C rs1568318932
NM_002501.4(NFIX):c.988G>A (p.Asp330Asn) rs1215112413

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