List of variants reported as likely benign for Malan overgrowth syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_001365902.3(NFIX):c.183G>A (p.Leu61=)	rs369196245	0.00044
NM_001365902.3(NFIX):c.117G>A (p.Lys39=)	rs148229471	0.00027
NM_001365902.3(NFIX):c.1143C>T (p.Ser381=)	rs777733912	0.00010
NM_001365902.3(NFIX):c.843C>T (p.Ile281=)	rs201741871	0.00008
NM_001365902.3(NFIX):c.786G>A (p.Gly262=)	rs199590032	0.00006
NM_001365902.3(NFIX):c.252G>T (p.Arg84=)	rs769513682	0.00004
NM_001365902.3(NFIX):c.105G>A (p.Ala35=)	rs761426805	0.00002
NM_001365902.3(NFIX):c.1248C>G (p.Thr416=)	rs372077833	0.00002
NM_001365902.3(NFIX):c.186C>G (p.Gly62=)	rs1057523001	0.00001
NM_001365902.3(NFIX):c.309C>T (p.Cys103=)	rs376885081	0.00001
NM_001365902.3(NFIX):c.560-6C>T	rs1008207585	0.00001
NM_001365902.3(NFIX):c.600G>A (p.Ala200=)	rs367591626	0.00001
NM_001365902.3(NFIX):c.604A>G (p.Ile202Val)	rs772764812	0.00001
NM_001365902.3(NFIX):c.1078+13G>A
NM_001365902.3(NFIX):c.1078+13G>T
NM_001365902.3(NFIX):c.1078+14G>A
NM_001365902.3(NFIX):c.1078+9T>A
NM_001365902.3(NFIX):c.1079-10G>C	rs772344456
NM_001365902.3(NFIX):c.1079-10G>T	rs772344456
NM_001365902.3(NFIX):c.1079-11C>T
NM_001365902.3(NFIX):c.1104C>T (p.Ala368=)
NM_001365902.3(NFIX):c.1122G>A (p.Thr374=)
NM_001365902.3(NFIX):c.1161G>A (p.Pro387=)	rs745896204
NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis)
NM_001365902.3(NFIX):c.1179C>T (p.His393=)
NM_001365902.3(NFIX):c.1185C>T (p.His395=)
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)	rs2017489032
NM_001365902.3(NFIX):c.1263T>C (p.Gly421=)
NM_001365902.3(NFIX):c.1266C>T (p.Ser422=)
NM_001365902.3(NFIX):c.129G>A (p.Lys43=)
NM_001365902.3(NFIX):c.1305G>A (p.Pro435=)
NM_001365902.3(NFIX):c.138G>A (p.Lys46=)	rs1599737654
NM_001365902.3(NFIX):c.1402+10C>T
NM_001365902.3(NFIX):c.1402+11G>A
NM_001365902.3(NFIX):c.1402+19C>T
NM_001365902.3(NFIX):c.1402+20G>A
NM_001365902.3(NFIX):c.1403-14C>T
NM_001365902.3(NFIX):c.1403-20C>T
NM_001365902.3(NFIX):c.141G>A (p.Arg47=)
NM_001365902.3(NFIX):c.141G>C (p.Arg47=)
NM_001365902.3(NFIX):c.1494+16C>G
NM_001365902.3(NFIX):c.1494+18C>T
NM_001365902.3(NFIX):c.1495-10C>T
NM_001365902.3(NFIX):c.1495-12A>G
NM_001365902.3(NFIX):c.1495-15T>C
NM_001365902.3(NFIX):c.1495-18T>C
NM_001365902.3(NFIX):c.153C>G (p.Asp51Glu)	rs150443437
NM_001365902.3(NFIX):c.198G>A (p.Glu66=)
NM_001365902.3(NFIX):c.231C>T (p.Ala77=)
NM_001365902.3(NFIX):c.235C>T (p.Leu79=)
NM_001365902.3(NFIX):c.255C>T (p.Pro85=)
NM_001365902.3(NFIX):c.279G>T (p.Leu93=)
NM_001365902.3(NFIX):c.28-322A>C
NM_001365902.3(NFIX):c.28-322A>G
NM_001365902.3(NFIX):c.28-327C>T	rs1368994635
NM_001365902.3(NFIX):c.28-355G>A
NM_001365902.3(NFIX):c.28-368G>T
NM_001365902.3(NFIX):c.28-370G>A
NM_001365902.3(NFIX):c.288G>A (p.Thr96=)
NM_001365902.3(NFIX):c.330G>A (p.Gln110=)
NM_001365902.3(NFIX):c.33G>A (p.Glu11=)
NM_001365902.3(NFIX):c.360G>A (p.Leu120=)
NM_001365902.3(NFIX):c.384G>A (p.Arg128=)
NM_001365902.3(NFIX):c.393G>A (p.Leu131=)
NM_001365902.3(NFIX):c.393G>C (p.Leu131=)
NM_001365902.3(NFIX):c.39C>T (p.His13=)
NM_001365902.3(NFIX):c.400G>T (p.Val134Leu)
NM_001365902.3(NFIX):c.420C>A (p.Ile140=)
NM_001365902.3(NFIX):c.426G>A (p.Leu142=)
NM_001365902.3(NFIX):c.42G>A (p.Pro14=)
NM_001365902.3(NFIX):c.459G>T (p.Ser153=)
NM_001365902.3(NFIX):c.477C>G (p.Pro159=)
NM_001365902.3(NFIX):c.48C>T (p.Ile16=)	rs559433211
NM_001365902.3(NFIX):c.523C>T (p.Leu175=)
NM_001365902.3(NFIX):c.555T>G (p.Thr185=)
NM_001365902.3(NFIX):c.559+18A>G
NM_001365902.3(NFIX):c.559+18A>T
NM_001365902.3(NFIX):c.559+8G>A
NM_001365902.3(NFIX):c.55C>T (p.Leu19=)
NM_001365902.3(NFIX):c.567A>G (p.Gly189=)
NM_001365902.3(NFIX):c.582A>C (p.Ser194=)
NM_001365902.3(NFIX):c.612A>G (p.Pro204=)
NM_001365902.3(NFIX):c.622+10C>T
NM_001365902.3(NFIX):c.623-8C>T
NM_001365902.3(NFIX):c.623G>A (p.Gly208Glu)
NM_001365902.3(NFIX):c.628T>C (p.Leu210=)	rs1568316185
NM_001365902.3(NFIX):c.644G>A (p.Cys215Tyr)
NM_001365902.3(NFIX):c.66C>T (p.His22=)
NM_001365902.3(NFIX):c.675G>A (p.Thr225=)
NM_001365902.3(NFIX):c.690A>G (p.Val230=)	rs1599843738
NM_001365902.3(NFIX):c.697+17T>C
NM_001365902.3(NFIX):c.698-5C>G
NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)
NM_001365902.3(NFIX):c.742C>T (p.Leu248=)
NM_001365902.3(NFIX):c.765C>T (p.Asn255=)
NM_001365902.3(NFIX):c.769A>G (p.Asn257Asp)
NM_001365902.3(NFIX):c.787C>T (p.Arg263Trp)	rs1568316909
NM_001365902.3(NFIX):c.818+16C>T
NM_001365902.3(NFIX):c.818+7C>T
NM_001365902.3(NFIX):c.819-11T>C
NM_001365902.3(NFIX):c.846T>C (p.Asp282=)
NM_001365902.3(NFIX):c.876C>T (p.Asp292=)
NM_001365902.3(NFIX):c.888C>T (p.Pro296=)
NM_001365902.3(NFIX):c.906A>C (p.Pro302=)
NM_001365902.3(NFIX):c.937C>T (p.Pro313Ser)
NM_001365902.3(NFIX):c.955+15G>C
NM_001365902.3(NFIX):c.956-14C>T
NM_001365902.3(NFIX):c.956-4C>G
NM_001365902.3(NFIX):c.956-4C>T

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