ClinVar Miner

List of variants in gene ELP1 reported as uncertain significance for Riley-Day syndrome

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP
NC_000009.11:g.(?_111693257)_(111693446_?)dup
NM_003640.4(ELP1):c.-353C>A rs886063351
NM_003640.4(ELP1):c.-403C>T rs886063352
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) rs750344128
NM_003640.5(ELP1):c.*1062G>T rs559551917
NM_003640.5(ELP1):c.*1124C>T rs746907451
NM_003640.5(ELP1):c.*1191T>G rs539404183
NM_003640.5(ELP1):c.*1214C>T rs143906434
NM_003640.5(ELP1):c.*1247T>C rs76994656
NM_003640.5(ELP1):c.*1254C>A rs879924643
NM_003640.5(ELP1):c.*1277T>G rs537888003
NM_003640.5(ELP1):c.*1352A>G rs886063344
NM_003640.5(ELP1):c.*1494A>G rs543323193
NM_003640.5(ELP1):c.*502C>T rs56305287
NM_003640.5(ELP1):c.-155A>G rs117100816
NM_003640.5(ELP1):c.-155A>T rs117100816
NM_003640.5(ELP1):c.-156G>A rs886063350
NM_003640.5(ELP1):c.-158C>G rs530824179
NM_003640.5(ELP1):c.-177C>T rs138630440
NM_003640.5(ELP1):c.-242T>G rs765585828
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) rs748458910
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) rs918763626
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser) rs1273486554
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln) rs369242781
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) rs764155403
NM_003640.5(ELP1):c.1460+3A>G rs1564093432
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) rs143494120
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1705_1707GTA[1] (p.Val570del) rs1554697136
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) rs755988042
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347
NM_003640.5(ELP1):c.1854+3A>G
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122
NM_003640.5(ELP1):c.1941_1943TGA[1] (p.Asp648del) rs1554696595
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu) rs761858315
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) rs1564085701
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039
NM_003640.5(ELP1):c.235G>C (p.Asp79His) rs1554703582
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) rs1358881100
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2588-6T>G rs1350078150
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)
NM_003640.5(ELP1):c.270A>T (p.Gly90=) rs200640674
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669
NM_003640.5(ELP1):c.2958+10A>T rs768709875
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431
NM_003640.5(ELP1):c.303+3A>G rs766433871
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377
NM_003640.5(ELP1):c.304-5C>T rs370384351
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352
NM_003640.5(ELP1):c.3222+14C>T rs374787755
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) rs192047457
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203
NM_003640.5(ELP1):c.3285+6A>T rs1465325866
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
NM_003640.5(ELP1):c.3346+6G>C rs774179813
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) rs1554691848
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
NM_003640.5(ELP1):c.3572+5G>C
NM_003640.5(ELP1):c.3572+5G>T
NM_003640.5(ELP1):c.3573-7C>G rs370571926
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) rs1554691544
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg) rs201888676
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg) rs1554737851
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
NM_003640.5(ELP1):c.3931+14C>G rs555520875
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter) rs1554735745
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) rs758442235
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro) rs367552387
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563
NM_003640.5(ELP1):c.959-15C>T rs112114410

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