ClinVar Miner

List of variants reported as uncertain significance for Koolen de Vries syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NM_001193466.2(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467
NM_001193466.2(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_001193466.2(KANSL1):c.1042C>G (p.Arg348Gly)
NM_001193466.2(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_001193466.2(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524
NM_001193466.2(KANSL1):c.1118G>C (p.Ser373Thr) rs747621748
NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_001193466.2(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528
NM_001193466.2(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497
NM_001193466.2(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_001193466.2(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_001193466.2(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_001193466.2(KANSL1):c.118G>A (p.Ala40Thr) rs376632173
NM_001193466.2(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_001193466.2(KANSL1):c.1256C>G (p.Thr419Ser) rs1597870423
NM_001193466.2(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888
NM_001193466.2(KANSL1):c.1276C>T (p.Arg426Cys) rs757224600
NM_001193466.2(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.2(KANSL1):c.1289+3G>A
NM_001193466.2(KANSL1):c.1289+3_1289+5del rs1597870189
NM_001193466.2(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_001193466.2(KANSL1):c.1402G>C (p.Asp468His) rs745576981
NM_001193466.2(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
NM_001193466.2(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_001193466.2(KANSL1):c.1600C>G (p.Leu534Val)
NM_001193466.2(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060
NM_001193466.2(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_001193466.2(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_001193466.2(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_001193466.2(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109
NM_001193466.2(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_001193466.2(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_001193466.2(KANSL1):c.181C>A (p.Leu61Ile) rs1567764831
NM_001193466.2(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_001193466.2(KANSL1):c.1864A>G (p.Thr622Ala)
NM_001193466.2(KANSL1):c.1867A>G (p.Ile623Val)
NM_001193466.2(KANSL1):c.1870C>T (p.Arg624Cys) rs368180304
NM_001193466.2(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_001193466.2(KANSL1):c.2095C>T (p.Pro699Ser)
NM_001193466.2(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_001193466.2(KANSL1):c.2109A>T (p.Leu703Phe) rs34101027
NM_001193466.2(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419
NM_001193466.2(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483
NM_001193466.2(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.2(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556
NM_001193466.2(KANSL1):c.2264G>A (p.Gly755Glu)
NM_001193466.2(KANSL1):c.2377T>A (p.Ser793Thr)
NM_001193466.2(KANSL1):c.2392+3A>T rs1568374384
NM_001193466.2(KANSL1):c.2406C>A (p.His802Gln) rs773681267
NM_001193466.2(KANSL1):c.2417G>A (p.Ser806Asn)
NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.2(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_001193466.2(KANSL1):c.2484_2486CTC[1] (p.Ser830del)
NM_001193466.2(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_001193466.2(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079
NM_001193466.2(KANSL1):c.2510G>T (p.Ser837Ile)
NM_001193466.2(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_001193466.2(KANSL1):c.2677G>A (p.Val893Ile) rs1057523139
NM_001193466.2(KANSL1):c.277A>G (p.Lys93Glu) rs752219095
NM_001193466.2(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469
NM_001193466.2(KANSL1):c.2897C>T (p.Thr966Ile) rs763252158
NM_001193466.2(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739
NM_001193466.2(KANSL1):c.301G>A (p.Val101Ile)
NM_001193466.2(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.2(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_001193466.2(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_001193466.2(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_001193466.2(KANSL1):c.3091-3C>T rs374360315
NM_001193466.2(KANSL1):c.3094G>C (p.Val1032Leu)
NM_001193466.2(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074
NM_001193466.2(KANSL1):c.3128C>T (p.Ala1043Val) rs1194713411
NM_001193466.2(KANSL1):c.3143C>T (p.Ala1048Val) rs200719065
NM_001193466.2(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347
NM_001193466.2(KANSL1):c.3154G>A (p.Asp1052Asn) rs1037675968
NM_001193466.2(KANSL1):c.316A>G (p.Thr106Ala) rs371450753
NM_001193466.2(KANSL1):c.3184C>T (p.Arg1062Cys)
NM_001193466.2(KANSL1):c.3185G>A (p.Arg1062His) rs768018906
NM_001193466.2(KANSL1):c.3245C>T (p.Ser1082Leu) rs749241540
NM_001193466.2(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
NM_001193466.2(KANSL1):c.3275A>G (p.His1092Arg)
NM_001193466.2(KANSL1):c.388G>A (p.Val130Ile) rs766000368
NM_001193466.2(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_001193466.2(KANSL1):c.406G>C (p.Glu136Gln)
NM_001193466.2(KANSL1):c.442G>A (p.Ala148Thr)
NM_001193466.2(KANSL1):c.494C>T (p.Ser165Leu)
NM_001193466.2(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_001193466.2(KANSL1):c.509A>G (p.His170Arg)
NM_001193466.2(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_001193466.2(KANSL1):c.542G>A (p.Arg181Gln) rs771481251
NM_001193466.2(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871
NM_001193466.2(KANSL1):c.55C>T (p.Arg19Trp)
NM_001193466.2(KANSL1):c.584G>A (p.Gly195Glu) rs757048501
NM_001193466.2(KANSL1):c.613A>T (p.Met205Leu)
NM_001193466.2(KANSL1):c.619A>G (p.Asn207Asp) rs372601814
NM_001193466.2(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_001193466.2(KANSL1):c.625A>G (p.Thr209Ala) rs1301400639
NM_001193466.2(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_001193466.2(KANSL1):c.658A>C (p.Thr220Pro)
NM_001193466.2(KANSL1):c.680G>T (p.Ser227Ile) rs150345690
NM_001193466.2(KANSL1):c.736A>G (p.Ser246Gly) rs141969887
NM_001193466.2(KANSL1):c.740G>A (p.Arg247Lys)
NM_001193466.2(KANSL1):c.802T>C (p.Ser268Pro) rs767021119
NM_001193466.2(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_001193466.2(KANSL1):c.812C>T (p.Ser271Phe) rs1597872380
NM_001193466.2(KANSL1):c.823T>C (p.Phe275Leu) rs1567762510
NM_001193466.2(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_001193466.2(KANSL1):c.850A>G (p.Ile284Val)
NM_001193466.2(KANSL1):c.869G>A (p.Arg290Gln)
NM_001193466.2(KANSL1):c.887G>A (p.Ser296Asn)
NM_001193466.2(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_001193466.2(KANSL1):c.907A>G (p.Lys303Glu) rs1263813959
NM_001193466.2(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305
NM_001193466.2(KANSL1):c.951A>G (p.Ile317Met)
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr)
NM_015443.4(KANSL1):c.1848+3C>T
NM_015443.4(KANSL1):c.2021-3C>T
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg)
NM_015443.4(KANSL1):c.2724+5T>G
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr)
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro)
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser)
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly)
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)

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