ClinVar Miner

List of variants reported as uncertain significance for Vici syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 162
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HGVS dbSNP
NC_000018.9:g.(?_43432412)_(43547225_?)dup
NM_020964.3(EPG5):c.1148C>G (p.Ser383Cys)
NM_020964.3(EPG5):c.1189A>G (p.Ile397Val)
NM_020964.3(EPG5):c.1252+5G>C
NM_020964.3(EPG5):c.1293A>G (p.Gln431=)
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp)
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679
NM_020964.3(EPG5):c.1390-5T>C rs1555680767
NM_020964.3(EPG5):c.1391T>C (p.Val464Ala) rs572513821
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337
NM_020964.3(EPG5):c.1511A>C (p.His504Pro)
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619
NM_020964.3(EPG5):c.1613G>A (p.Arg538Gln)
NM_020964.3(EPG5):c.1625C>T (p.Ser542Phe)
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.167A>G (p.Lys56Arg)
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998
NM_020964.3(EPG5):c.1702A>C (p.Ile568Leu)
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile)
NM_020964.3(EPG5):c.1867C>A (p.Leu623Ile)
NM_020964.3(EPG5):c.1913A>C (p.Gln638Pro)
NM_020964.3(EPG5):c.1940T>G (p.Ile647Ser)
NM_020964.3(EPG5):c.2069G>A (p.Arg690Lys) rs1568173320
NM_020964.3(EPG5):c.2127G>T (p.Glu709Asp)
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154
NM_020964.3(EPG5):c.2176C>T (p.Leu726Phe)
NM_020964.3(EPG5):c.2180T>C (p.Met727Thr)
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994
NM_020964.3(EPG5):c.2332A>G (p.Thr778Ala)
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530
NM_020964.3(EPG5):c.2395G>T (p.Val799Phe)
NM_020964.3(EPG5):c.2407T>C (p.Tyr803His) rs762353654
NM_020964.3(EPG5):c.2420A>C (p.Tyr807Ser)
NM_020964.3(EPG5):c.2443A>T (p.Thr815Ser)
NM_020964.3(EPG5):c.2618C>T (p.Ala873Val) rs201678945
NM_020964.3(EPG5):c.2702G>T (p.Trp901Leu)
NM_020964.3(EPG5):c.2718+3A>G rs374002995
NM_020964.3(EPG5):c.2812G>A (p.Gly938Arg)
NM_020964.3(EPG5):c.2845T>C (p.Tyr949His)
NM_020964.3(EPG5):c.2846A>T (p.Tyr949Phe)
NM_020964.3(EPG5):c.290C>T (p.Thr97Met)
NM_020964.3(EPG5):c.2956C>G (p.Pro986Ala) rs755139046
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile)
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723
NM_020964.3(EPG5):c.3002C>T (p.Thr1001Ile)
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met)
NM_020964.3(EPG5):c.3034G>A (p.Ala1012Thr)
NM_020964.3(EPG5):c.3113G>A (p.Cys1038Tyr)
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile)
NM_020964.3(EPG5):c.3206A>G (p.Tyr1069Cys)
NM_020964.3(EPG5):c.3270C>A (p.His1090Gln)
NM_020964.3(EPG5):c.328A>G (p.Arg110Gly)
NM_020964.3(EPG5):c.3292G>A (p.Gly1098Ser)
NM_020964.3(EPG5):c.3384G>A (p.Gln1128=)
NM_020964.3(EPG5):c.3427G>A (p.Val1143Ile)
NM_020964.3(EPG5):c.3496C>G (p.Leu1166Val) rs772777352
NM_020964.3(EPG5):c.350C>T (p.Ala117Val)
NM_020964.3(EPG5):c.3582+3A>G
NM_020964.3(EPG5):c.35_40AGGCCA[3] (p.12_13KA[3])
NM_020964.3(EPG5):c.3632G>A (p.Ser1211Asn)
NM_020964.3(EPG5):c.3652A>G (p.Ile1218Val)
NM_020964.3(EPG5):c.3683C>T (p.Thr1228Met)
NM_020964.3(EPG5):c.3721A>G (p.Met1241Val)
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro) rs1568149047
NM_020964.3(EPG5):c.3754C>T (p.Arg1252Trp)
NM_020964.3(EPG5):c.3938A>G (p.Gln1313Arg)
NM_020964.3(EPG5):c.4001G>C (p.Cys1334Ser)
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)
NM_020964.3(EPG5):c.4037T>C (p.Ile1346Thr)
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg) rs199571302
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu) rs543543733
NM_020964.3(EPG5):c.4164_4165delinsAT (p.Gly1389Cys)
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys)
NM_020964.3(EPG5):c.4231C>A (p.Leu1411Ile)
NM_020964.3(EPG5):c.424G>A (p.Glu142Lys)
NM_020964.3(EPG5):c.4250A>C (p.Gln1417Pro)
NM_020964.3(EPG5):c.4261A>G (p.Thr1421Ala)
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys)
NM_020964.3(EPG5):c.4522C>T (p.Pro1508Ser)
NM_020964.3(EPG5):c.4549C>T (p.Pro1517Ser)
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu) rs375867560
NM_020964.3(EPG5):c.4601C>T (p.Thr1534Ile)
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys)
NM_020964.3(EPG5):c.4681C>G (p.Leu1561Val)
NM_020964.3(EPG5):c.4687G>T (p.Gly1563Cys) rs751554863
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn)
NM_020964.3(EPG5):c.494C>T (p.Pro165Leu) rs201402291
NM_020964.3(EPG5):c.4988C>T (p.Pro1663Leu)
NM_020964.3(EPG5):c.5023A>G (p.Thr1675Ala)
NM_020964.3(EPG5):c.5026A>G (p.Ile1676Val)
NM_020964.3(EPG5):c.5051C>T (p.Thr1684Met)
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile)
NM_020964.3(EPG5):c.5359A>G (p.Arg1787Gly)
NM_020964.3(EPG5):c.5383G>T (p.Ala1795Ser)
NM_020964.3(EPG5):c.5390C>G (p.Thr1797Ser)
NM_020964.3(EPG5):c.5545G>A (p.Glu1849Lys)
NM_020964.3(EPG5):c.5560A>T (p.Thr1854Ser)
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp) rs762207905
NM_020964.3(EPG5):c.5614A>G (p.Thr1872Ala) rs1568116795
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5648C>T (p.Ala1883Val)
NM_020964.3(EPG5):c.5667+4T>C
NM_020964.3(EPG5):c.5735A>C (p.Lys1912Thr)
NM_020964.3(EPG5):c.5737A>T (p.Ser1913Cys) rs1555666104
NM_020964.3(EPG5):c.5885A>G (p.His1962Arg)
NM_020964.3(EPG5):c.5937C>A (p.Asn1979Lys) rs150214973
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile) rs777008903
NM_020964.3(EPG5):c.6044T>C (p.Phe2015Ser)
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.6112T>G (p.Cys2038Gly)
NM_020964.3(EPG5):c.6116C>T (p.Thr2039Ile) rs768999379
NM_020964.3(EPG5):c.611A>G (p.Lys204Arg)
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6167G>A (p.Arg2056Gln)
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly)
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn)
NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg) rs764947795
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg)
NM_020964.3(EPG5):c.6518C>T (p.Pro2173Leu)
NM_020964.3(EPG5):c.6535G>A (p.Ala2179Thr) rs1245545639
NM_020964.3(EPG5):c.654G>T (p.Gln218His)
NM_020964.3(EPG5):c.6595A>G (p.Ile2199Val) rs1555662276
NM_020964.3(EPG5):c.6623A>G (p.Asp2208Gly)
NM_020964.3(EPG5):c.6726G>A (p.Met2242Ile)
NM_020964.3(EPG5):c.674G>C (p.Gly225Ala) rs200910594
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu)
NM_020964.3(EPG5):c.6765C>T (p.Pro2255=)
NM_020964.3(EPG5):c.6769A>G (p.Met2257Val)
NM_020964.3(EPG5):c.6787C>G (p.His2263Asp)
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val) rs200754523
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln)
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr) rs201213000
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701
NM_020964.3(EPG5):c.6889G>C (p.Gly2297Arg)
NM_020964.3(EPG5):c.688T>G (p.Leu230Val)
NM_020964.3(EPG5):c.7028C>T (p.Ser2343Leu)
NM_020964.3(EPG5):c.7082A>C (p.Glu2361Ala) rs374750937
NM_020964.3(EPG5):c.713G>T (p.Arg238Leu)
NM_020964.3(EPG5):c.7152C>A (p.Asn2384Lys)
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg) rs137887553
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_020964.3(EPG5):c.7286T>A (p.Leu2429His)
NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp)
NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln) rs912810095
NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile)
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915
NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe)
NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile)
NM_020964.3(EPG5):c.814G>A (p.Val272Ile)
NM_020964.3(EPG5):c.968G>T (p.Ser323Ile)
NM_020964.3(EPG5):c.974T>G (p.Leu325Arg)
NM_020964.3(EPG5):c.995A>G (p.Gln332Arg)

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