List of variants in gene ELANE reported as uncertain significance for leukopenia

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

Total variants: 224

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HGVS	dbSNP	gnomAD frequency
NM_001972.4(ELANE):c.431G>A (p.Arg144His)	rs142441575	0.00020
NM_001972.4(ELANE):c.428G>A (p.Arg143His)	rs200993994	0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)	rs112990855	0.00014
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)	rs201421847	0.00011
NM_001972.4(ELANE):c.472C>G (p.Leu158Val)	rs535990034	0.00011
NM_001972.4(ELANE):c.23C>T (p.Ala8Val)	rs201961347	0.00010
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe)	rs1085307624	0.00010
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln)	rs375350474	0.00009
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)	rs193141883	0.00007
NM_001972.4(ELANE):c.68-13G>A	rs371409487	0.00007
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg)	rs377698556	0.00005
NM_001972.4(ELANE):c.637C>T (p.His213Tyr)	rs201326533	0.00005
NM_001972.4(ELANE):c.565C>A (p.Leu189Ile)	rs200592180	0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met)	rs367663236	0.00004
NM_001972.4(ELANE):c.658C>T (p.Arg220Trp)	rs538571617	0.00004
NM_001972.4(ELANE):c.70A>C (p.Thr24Pro)	rs367677280	0.00004
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln)	rs755088297	0.00003
NM_001972.4(ELANE):c.502G>A (p.Val168Ile)	rs201313263	0.00003
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln)	rs202234596	0.00003
NM_001972.4(ELANE):c.118G>A (p.Ala40Thr)	rs1004780968	0.00002
NM_001972.4(ELANE):c.14G>A (p.Arg5His)	rs1050778419	0.00002
NM_001972.4(ELANE):c.223G>A (p.Val75Ile)	rs200998348	0.00002
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser)	rs1196145112	0.00002
NM_001972.4(ELANE):c.354C>G (p.Ile118Met)	rs759734732	0.00002
NM_001972.4(ELANE):c.407C>T (p.Ala136Val)	rs145175658	0.00002
NM_001972.4(ELANE):c.556G>A (p.Val186Ile)	rs140642538	0.00002
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser)	rs773460580	0.00001
NM_001972.4(ELANE):c.119C>T (p.Ala40Val)	rs1555709342	0.00001
NM_001972.4(ELANE):c.19C>T (p.Leu7Phe)	rs771000673	0.00001
NM_001972.4(ELANE):c.214G>A (p.Val72Met)	rs387906553	0.00001
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr)	rs759486889	0.00001
NM_001972.4(ELANE):c.233G>A (p.Arg78His)	rs569608929	0.00001
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser)	rs769123461	0.00001
NM_001972.4(ELANE):c.262A>G (p.Asn88Asp)	rs899133377	0.00001
NM_001972.4(ELANE):c.292G>A (p.Val98Met)	rs267606781	0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg)	rs568474579	0.00001
NM_001972.4(ELANE):c.343C>A (p.Leu115Ile)	rs761153954	0.00001
NM_001972.4(ELANE):c.352A>G (p.Ile118Val)	rs1382122842	0.00001
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter)	rs1303279241	0.00001
NM_001972.4(ELANE):c.385A>G (p.Ile129Val)	rs2035664153	0.00001
NM_001972.4(ELANE):c.418G>A (p.Ala140Thr)	rs760393415	0.00001
NM_001972.4(ELANE):c.419C>T (p.Ala140Val)	rs538255080	0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys)	rs199558534	0.00001
NM_001972.4(ELANE):c.430C>T (p.Arg144Cys)	rs148726761	0.00001
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg)	rs774508567	0.00001
NM_001972.4(ELANE):c.505C>A (p.Leu169Met)	rs749675557	0.00001
NM_001972.4(ELANE):c.511G>A (p.Glu171Lys)	rs202069727	0.00001
NM_001972.4(ELANE):c.518A>G (p.Asn173Ser)	rs748345928	0.00001
NM_001972.4(ELANE):c.520G>A (p.Val174Met)	rs1380068567	0.00001
NM_001972.4(ELANE):c.551G>A (p.Ser184Asn)	rs1360344559	0.00001
NM_001972.4(ELANE):c.586G>A (p.Gly196Ser)	rs747108397	0.00001
NM_001972.4(ELANE):c.598-2A>C	rs1364734771	0.00001
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg)	rs140880838	0.00001
NM_001972.4(ELANE):c.652T>C (p.Phe218Leu)	rs200384291	0.00001
NM_001972.4(ELANE):c.662G>T (p.Gly221Val)	rs756112245	0.00001
NM_001972.4(ELANE):c.67+1G>T	rs1599290074	0.00001
NM_001972.4(ELANE):c.727G>T (p.Asp243Tyr)	rs752022665	0.00001
NM_001972.4(ELANE):c.748G>A (p.Glu250Lys)	rs1568306204	0.00001
NM_001972.4(ELANE):c.772C>T (p.Arg258Trp)	rs747957936	0.00001
NC_000019.10:g.(?_852288)_(856184_?)del
NC_000019.9:g.(?_852326)_(856164_?)dup
NC_000019.9:g.(?_852329)_(853423_?)del
NC_000019.9:g.(?_852329)_(855814_?)dup
NC_000019.9:g.(?_855544)_(856164_?)del
NC_000019.9:g.(?_855938)_(856184_?)dup
NM_001972.4(ELANE):c.101G>T (p.Arg34Leu)
NM_001972.4(ELANE):c.107C>G (p.Ala36Gly)	rs1238175738
NM_001972.4(ELANE):c.113C>T (p.Pro38Leu)
NM_001972.4(ELANE):c.117C>A (p.His39Gln)
NM_001972.4(ELANE):c.117C>G (p.His39Gln)
NM_001972.4(ELANE):c.123_124insA (p.Pro42fs)
NM_001972.4(ELANE):c.12CCG[3] (p.Arg6dup)	rs1172918693
NM_001972.4(ELANE):c.131_141del (p.Met44fs)
NM_001972.4(ELANE):c.133G>A (p.Val45Met)
NM_001972.4(ELANE):c.146T>C (p.Leu49Pro)	rs2145144098
NM_001972.4(ELANE):c.14G>T (p.Arg5Leu)
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg)	rs1320267189
NM_001972.4(ELANE):c.163T>C (p.Cys55Arg)
NM_001972.4(ELANE):c.163_165del (p.Cys55del)	rs2035617167
NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro)	rs1555709360
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
NM_001972.4(ELANE):c.182C>A (p.Ala61Glu)
NM_001972.4(ELANE):c.184C>T (p.Pro62Ser)
NM_001972.4(ELANE):c.189C>A (p.Asn63Lys)	rs2145144214
NM_001972.4(ELANE):c.200C>T (p.Ser67Leu)
NM_001972.4(ELANE):c.205G>A (p.Ala69Thr)
NM_001972.4(ELANE):c.205del (p.Ala69fs)
NM_001972.4(ELANE):c.214G>C (p.Val72Leu)
NM_001972.4(ELANE):c.222_223insAC (p.Val75fs)	rs2035618552
NM_001972.4(ELANE):c.224+4A>T
NM_001972.4(ELANE):c.225-10_232dup
NM_001972.4(ELANE):c.225-3C>T
NM_001972.4(ELANE):c.225-6C>A	rs777599059
NM_001972.4(ELANE):c.228C>A (p.Asn76Lys)	rs746799175
NM_001972.4(ELANE):c.229G>A (p.Val77Ile)
NM_001972.4(ELANE):c.22G>C (p.Ala8Pro)
NM_001972.4(ELANE):c.233G>C (p.Arg78Pro)	rs569608929
NM_001972.4(ELANE):c.233G>T (p.Arg78Leu)
NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)
NM_001972.4(ELANE):c.235G>C (p.Ala79Pro)	rs769123461
NM_001972.4(ELANE):c.239T>C (p.Val80Ala)	rs2145144975
NM_001972.4(ELANE):c.23C>G (p.Ala8Gly)	rs201961347
NM_001972.4(ELANE):c.242G>A (p.Arg81Gln)
NM_001972.4(ELANE):c.244G>A (p.Val82Met)	rs2145144993
NM_001972.4(ELANE):c.247G>A (p.Val83Ile)
NM_001972.4(ELANE):c.255_266del (p.Ala86_Leu89del)
NM_001972.4(ELANE):c.256G>T (p.Ala86Ser)	rs1599291445
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup)	rs1468631555
NM_001972.4(ELANE):c.25T>C (p.Cys9Arg)	rs2035607298
NM_001972.4(ELANE):c.264C>A (p.Asn88Lys)	rs766647358
NM_001972.4(ELANE):c.269C>A (p.Ser90Ter)
NM_001972.4(ELANE):c.269C>T (p.Ser90Leu)	rs890280050
NM_001972.4(ELANE):c.270_273dup (p.Arg92fs)
NM_001972.4(ELANE):c.271C>T (p.Arg91Trp)
NM_001972.4(ELANE):c.272G>C (p.Arg91Pro)	rs1201600992
NM_001972.4(ELANE):c.284C>G (p.Thr95Ser)	rs752760119
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp)	rs777652186
NM_001972.4(ELANE):c.287G>C (p.Arg96Pro)
NM_001972.4(ELANE):c.295T>C (p.Phe99Leu)
NM_001972.4(ELANE):c.297C>G (p.Phe99Leu)
NM_001972.4(ELANE):c.298G>A (p.Ala100Thr)	rs549887145
NM_001972.4(ELANE):c.298G>T (p.Ala100Ser)
NM_001972.4(ELANE):c.300dup (p.Val101fs)	rs2145145158
NM_001972.4(ELANE):c.315C>G (p.Phe105Leu)
NM_001972.4(ELANE):c.317A>C (p.Glu106Ala)
NM_001972.4(ELANE):c.319A>G (p.Asn107Asp)
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg)	rs1221333968
NM_001972.4(ELANE):c.322G>T (p.Gly108Cys)
NM_001972.4(ELANE):c.342G>T (p.Leu114Phe)	rs1568304522
NM_001972.4(ELANE):c.349G>C (p.Asp117His)
NM_001972.4(ELANE):c.353T>A (p.Ile118Asn)	rs1599291639
NM_001972.4(ELANE):c.355G>C (p.Val119Leu)
NM_001972.4(ELANE):c.367-1G>C	rs1442062349
NM_001972.4(ELANE):c.367-3C>T
NM_001972.4(ELANE):c.367C>G (p.Leu123Val)	rs2035663521
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro)	rs2145148405
NM_001972.4(ELANE):c.372C>A (p.Asn124Lys)	rs200595736
NM_001972.4(ELANE):c.380CCA[1] (p.Thr128del)	rs1599293834
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly)	rs756726256
NM_001972.4(ELANE):c.391G>A (p.Ala131Thr)
NM_001972.4(ELANE):c.392C>G (p.Ala131Gly)
NM_001972.4(ELANE):c.392C>T (p.Ala131Val)	rs2035664443
NM_001972.4(ELANE):c.396C>A (p.Asn132Lys)
NM_001972.4(ELANE):c.39C>G (p.Ala13=)	rs139637472
NM_001972.4(ELANE):c.401A>G (p.Gln134Arg)
NM_001972.4(ELANE):c.403G>A (p.Val135Met)	rs774457980
NM_001972.4(ELANE):c.403G>T (p.Val135Leu)
NM_001972.4(ELANE):c.410_416del (p.Gln137fs)
NM_001972.4(ELANE):c.411G>C (p.Gln137His)
NM_001972.4(ELANE):c.41G>A (p.Cys14Tyr)	rs1470888380
NM_001972.4(ELANE):c.437_457dup (p.Gly146_Leu152dup)	rs2145148571
NM_001972.4(ELANE):c.443G>A (p.Gly148Glu)	rs1309647401
NM_001972.4(ELANE):c.466T>A (p.Trp156Arg)
NM_001972.4(ELANE):c.467G>C (p.Trp156Ser)	rs2035666353
NM_001972.4(ELANE):c.469G>A (p.Gly157Ser)
NM_001972.4(ELANE):c.472C>T (p.Leu158Phe)	rs535990034
NM_001972.4(ELANE):c.482G>A (p.Arg161Lys)
NM_001972.4(ELANE):c.487C>A (p.Arg163Ser)	rs759382746
NM_001972.4(ELANE):c.487C>T (p.Arg163Cys)
NM_001972.4(ELANE):c.488G>A (p.Arg163His)
NM_001972.4(ELANE):c.493A>G (p.Ile165Val)	rs1599294094
NM_001972.4(ELANE):c.496G>A (p.Ala166Thr)
NM_001972.4(ELANE):c.509A>G (p.Gln170Arg)
NM_001972.4(ELANE):c.513G>T (p.Glu171Asp)
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro)	rs797045007
NM_001972.4(ELANE):c.531G>A (p.Val177=)
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys)	rs747053501
NM_001972.4(ELANE):c.533C>T (p.Thr178Met)
NM_001972.4(ELANE):c.537_563del (p.Cys181_Leu189del)
NM_001972.4(ELANE):c.542G>A (p.Cys181Tyr)
NM_001972.4(ELANE):c.550A>C (p.Ser184Arg)	rs2035668478
NM_001972.4(ELANE):c.566dup (p.Val190fs)
NM_001972.4(ELANE):c.567C>G (p.Leu189=)	rs751132983
NM_001972.4(ELANE):c.568G>C (p.Val190Leu)
NM_001972.4(ELANE):c.569T>G (p.Val190Gly)	rs1322572531
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser)	rs754277797
NM_001972.4(ELANE):c.581A>T (p.Gln194Leu)
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
NM_001972.4(ELANE):c.583G>A (p.Ala195Thr)
NM_001972.4(ELANE):c.584C>A (p.Ala195Asp)
NM_001972.4(ELANE):c.589G>A (p.Val197Ile)	rs1471191879
NM_001972.4(ELANE):c.597+3A>T	rs2145149093
NM_001972.4(ELANE):c.597+4C>T
NM_001972.4(ELANE):c.597+5G>C
NM_001972.4(ELANE):c.597+5_597+8del	rs2035670462
NM_001972.4(ELANE):c.597C>T (p.Phe199=)
NM_001972.4(ELANE):c.607G>T (p.Gly203Cys)	rs201139487
NM_001972.4(ELANE):c.619G>C (p.Val207Leu)	rs2035674003
NM_001972.4(ELANE):c.619G>T (p.Val207Phe)	rs2035674003
NM_001972.4(ELANE):c.623G>T (p.Cys208Phe)	rs1226645940
NM_001972.4(ELANE):c.634A>G (p.Ile212Val)	rs2035674370
NM_001972.4(ELANE):c.639C>A (p.His213Gln)
NM_001972.4(ELANE):c.644T>A (p.Ile215Asn)	rs771710628
NM_001972.4(ELANE):c.644T>C (p.Ile215Thr)
NM_001972.4(ELANE):c.647C>T (p.Ala216Val)	rs760080772
NM_001972.4(ELANE):c.64G>C (p.Gly22Arg)	rs1477643766
NM_001972.4(ELANE):c.659G>C (p.Arg220Pro)	rs137854445
NM_001972.4(ELANE):c.664G>A (p.Gly222Ser)	rs2145149692
NM_001972.4(ELANE):c.664G>T (p.Gly222Cys)	rs2145149692
NM_001972.4(ELANE):c.665G>A (p.Gly222Asp)	rs1555710104
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg)	rs780046041
NM_001972.4(ELANE):c.688G>C (p.Asp230His)
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp)	rs2145143878
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu)	rs760263661
NM_001972.4(ELANE):c.724A>T (p.Ile242Phe)
NM_001972.4(ELANE):c.733_737dup (p.Gln247fs)
NM_001972.4(ELANE):c.73G>A (p.Ala25Thr)
NM_001972.4(ELANE):c.740A>T (p.Gln247Leu)
NM_001972.4(ELANE):c.744C>G (p.Arg248=)	rs2035677633
NM_001972.4(ELANE):c.746C>G (p.Ser249Cys)
NM_001972.4(ELANE):c.74C>A (p.Ala25Glu)	rs1396230082
NM_001972.4(ELANE):c.751G>T (p.Asp251Tyr)
NM_001972.4(ELANE):c.752A>C (p.Asp251Ala)	rs2035677886
NM_001972.4(ELANE):c.760T>C (p.Cys254Arg)	rs2145149914
NM_001972.4(ELANE):c.761G>A (p.Cys254Tyr)
NM_001972.4(ELANE):c.775G>C (p.Asp259His)	rs1408272130
NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)
NM_001972.4(ELANE):c.782A>G (p.Asp261Gly)
NM_001972.4(ELANE):c.790A>G (p.Ser264Gly)
NM_001972.4(ELANE):c.803G>C (p.Ter268Ser)
NM_001972.4(ELANE):c.85G>A (p.Glu29Lys)
NM_001972.4(ELANE):c.91G>A (p.Val31Met)	rs2145143909
NM_001972.4(ELANE):c.98del (p.Gly33fs)

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