List of variants reported as uncertain significance for Mendelian encephalopathy by Fulgent Genetics, Fulgent Genetics

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: 101

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001144869.3(LIPT2):c.107T>C (p.Ile36Thr)	rs543581000	0.00066
NM_001277062.2(MFF):c.223G>A (p.Asp75Asn)	rs375098500	0.00042
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)	rs199827754	0.00027
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met)	rs201929226	0.00026
NM_006267.5(RANBP2):c.1957A>G (p.Thr653Ala)	rs149578420	0.00018
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)	rs190842600	0.00014
NM_006267.5(RANBP2):c.1535C>T (p.Pro512Leu)	rs377029115	0.00014
NM_000311.5(PRNP):c.*115G>A	rs746943389	0.00012
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)	rs767463971	0.00008
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)	rs772516974	0.00006
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg)	rs138964424	0.00005
NM_014297.5(ETHE1):c.115C>G (p.Leu39Val)	rs201260191	0.00005
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	rs61750239	0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)	rs149907021	0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)	rs369732238	0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)	rs754683462	0.00004
NM_003193.5(TBCE):c.581C>T (p.Pro194Leu)	rs182268162	0.00004
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	rs140258520	0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)	rs141518903	0.00003
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)	rs370905417	0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)	rs751277966	0.00003
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val)	rs760613992	0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)	rs769219167	0.00003
NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala)	rs1192195663	0.00003
NM_003193.5(TBCE):c.71G>A (p.Arg24His)	rs766386026	0.00003
NM_006267.5(RANBP2):c.8369T>A (p.Phe2790Tyr)	rs142150663	0.00003
NM_000311.5(PRNP):c.498G>A (p.Met166Ile)	rs745480639	0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg)	rs74315409	0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)	rs786204313	0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)	rs61748427	0.00002
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)	rs202072835	0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)	rs1057524897	0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)	rs1006065298	0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)	rs771322168	0.00002
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)	rs145790362	0.00001
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val)	rs749315755	0.00001
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)	rs144725547	0.00001
NM_001122955.4(BSCL2):c.1033C>T (p.Arg345Trp)	rs767820877	0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)	rs781022347	0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)	rs113336810	0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)	rs779682500	0.00001
NM_001122955.4(BSCL2):c.1234+6G>A	rs762726296	0.00001
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)	rs1590868109	0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)	rs772442281	0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)	rs141657385	0.00001
NM_001122955.4(BSCL2):c.214C>G (p.Pro72Ala)	rs2083513120	0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)	rs772832629	0.00001
NM_001122955.4(BSCL2):c.260G>A (p.Arg87His)	rs1296501254	0.00001
NM_001122955.4(BSCL2):c.270G>T (p.Arg90Ser)	rs756668260	0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)	rs137930278	0.00001
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)	rs748287282	0.00001
NM_001122955.4(BSCL2):c.829T>C (p.Tyr277His)	rs1163758338	0.00001
NM_001122955.4(BSCL2):c.863+5G>A	rs786205072	0.00001
NM_005993.5(TBCD):c.880C>T (p.Arg294Trp)	rs1064796675	0.00001
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)	rs2108559953
NM_001122955.4(BSCL2):c.-1_1inv (p.Met1Leu)
NM_001122955.4(BSCL2):c.1005+3C>T	rs372166360
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)	rs1424325463
NM_001122955.4(BSCL2):c.1108G>C (p.Asp370His)
NM_001122955.4(BSCL2):c.1180C>A (p.Pro394Thr)
NM_001122955.4(BSCL2):c.1192C>G (p.Pro398Ala)
NM_001122955.4(BSCL2):c.1214T>A (p.Leu405Gln)
NM_001122955.4(BSCL2):c.1271del (p.Glu424fs)
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])	rs747175358
NM_001122955.4(BSCL2):c.1300T>C (p.Ser434Pro)	rs199584887
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)	rs199584887
NM_001122955.4(BSCL2):c.1325C>T (p.Thr442Ile)	rs876661160
NM_001122955.4(BSCL2):c.1345G>C (p.Ala449Pro)
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)	rs1945271930
NM_001122955.4(BSCL2):c.224T>C (p.Leu75Pro)
NM_001122955.4(BSCL2):c.270_271delinsTT (p.Arg90Ser)
NM_001122955.4(BSCL2):c.329T>G (p.Val110Gly)	rs2539181847
NM_001122955.4(BSCL2):c.350A>G (p.Tyr117Cys)	rs1218475333
NM_001122955.4(BSCL2):c.356C>G (p.Ser119Cys)
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)	rs1349958377
NM_001122955.4(BSCL2):c.478C>T (p.Arg160Cys)	rs772536764
NM_001122955.4(BSCL2):c.500G>A (p.Gly167Glu)
NM_001122955.4(BSCL2):c.617C>T (p.Thr206Ile)
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)	rs150158560
NM_001122955.4(BSCL2):c.646C>T (p.Arg216Cys)
NM_001122955.4(BSCL2):c.779C>G (p.Thr260Ser)
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)	rs781217574
NM_001122955.4(BSCL2):c.836G>A (p.Arg279His)	rs142608646
NM_001122955.4(BSCL2):c.843C>G (p.His281Gln)
NM_001122955.4(BSCL2):c.856G>A (p.Gly286Arg)
NM_001122955.4(BSCL2):c.864A>G (p.Arg288=)
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
NM_001122955.4(BSCL2):c.921C>A (p.Phe307Leu)	rs1041843205
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)	rs367783346
NM_001122955.4(BSCL2):c.974G>T (p.Gly325Val)
NM_001318525.2(TRAPPC2L):c.133G>A (p.Ala45Thr)
NM_001318525.2(TRAPPC2L):c.97C>T (p.His33Tyr)
NM_003193.5(TBCE):c.389A>G (p.Gln130Arg)
NM_003193.5(TBCE):c.898+6T>C	rs759799813
NM_006267.5(RANBP2):c.3210G>T (p.Leu1070=)
NM_006267.5(RANBP2):c.5570A>G (p.Gln1857Arg)	rs2149279328
NM_006267.5(RANBP2):c.7924G>A (p.Ala2642Thr)
NM_006267.5(RANBP2):c.8664G>C (p.Gln2888His)
NM_016030.6(TRAPPC12):c.1531-3C>T
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)	rs886041062

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.