ClinVar Miner

List of variants reported as likely pathogenic by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP
NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4
NC_000007.13:g.147518609_147807856del
NC_000017.10:g.[704261_704263del];[(729319_882558)_(882998_?)]del
NM_000138.4(FBN1):c.4970_4971insA (p.Cys1658fs) rs864309713
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000170.2(GLDC):c.2938A>G (p.Asn980Asp) rs772574530
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000335.4(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119
NM_000335.4(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000364.4(TNNT2):c.3G>A (p.Met1Ile) rs1289914935
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000489.5(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.5(ATRX):c.533T>A (p.Val178Asp) rs1060499759
NM_000834.4(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp) rs1114167300
NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys) rs1114167301
NM_000844.4(GRM7):c.461T>C (p.Ile154Thr) rs1114167298
NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001009994.2(RIPPLY2):c.299del (p.Leu100fs) rs864309489
NM_001012415.3(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001012415.3(SOHLH1):c.705del (p.Lys236fs) rs864309645
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001039550.2(DNAJB2):c.310del (p.Arg104fs) rs879253868
NM_001039803.2(CDK20):c.610T>C (p.Phe204Leu) rs745561217
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001048166.1(STIL):c.1226G>C (p.Ser409Thr) rs369348360
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001083962.2(TCF4):c.145+1G>A rs1555782724
NM_001100915.3(KCTD19):c.215C>A (p.Thr72Asn) rs869312866
NM_001110556.2(FLNA):c.7333+1G>A rs1557175424
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001123383.1(BCOR):c.4190C>A (p.Ser1397Tyr) rs369432845
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001135004.2(DNAJB5):c.169C>T (p.Pro57Ser) rs774909609
NM_001168272.1(ITPR1):c.7739G>C (p.Gly2580Ala) rs869312685
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001174051.3(CACNA2D2):c.1778G>C (p.Arg593Pro) rs1485894376
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) rs1060499755
NM_001184705.2(HADH):c.349G>T (p.Val117Leu) rs146732064
NM_001198956.1(DCAF6):c.2240G>A (p.Arg747Gln) rs145189179
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter) rs1060499756
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) rs1060499771
NM_001256047.1(C19orf12):c.161G>T (p.Gly54Val) rs752450983
NM_001267550.2(TTN):c.66904C>T (p.Leu22302=) rs1553624186
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001271620.2(ZNF423):c.3190G>A (p.Glu1064Lys) rs548986682
NM_001271620.2(ZNF423):c.86G>A (p.Arg29His) rs745597535
NM_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707
NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn) rs375131638
NM_001320668.2(ZFP30):c.730T>C (p.Cys244Arg) rs869312869
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs) rs1553173420
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs) rs1553173368
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_001330311.2(DVL1):c.1698del (p.Ser567fs) rs1553173367
NM_001349.4(DARS1):c.389G>C (p.Cys130Ser) rs1060499772
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001365.4(DLG4):c.277dup (p.Tyr93fs) rs869312859
NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu) rs1555411378
NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu) rs561330579
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001448.3(GPC4):c.1235G>A (p.Arg412Lys) rs1556022962
NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter) rs1555657045
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) rs1223920489
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) rs1555657073
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val) rs1555657074
NM_001520.4(GTF3C1):c.4096G>A (p.Glu1366Lys) rs1060499746
NM_001552.3(IGFBP4):c.698C>T (p.Thr233Met) rs563069739
NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp) rs869312870
NM_001794.5(CDH4):c.1976G>C (p.Arg659Pro) rs765815715
NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
NM_002206.3(ITGA7):c.132_133insA (p.Glu45fs) rs1060499775
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu) rs869320638
NM_002336.3(LRP6):c.1609G>A (p.Gly537Arg) rs869320639
NM_002336.3(LRP6):c.2994+1G>A rs866789963
NM_002336.3(LRP6):c.4082-2A>G rs869320640
NM_002336.3(LRP6):c.517C>G (p.Arg173Gly) rs869320637
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala) rs879253743
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) rs879253869
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002944.2(ROS1):c.1094G>C (p.Gly365Ala) rs61743088
NM_003054.6(SLC18A2):c.711del (p.Phe238fs) rs762879329
NM_003069.5(SMARCA1):c.7C>T (p.Gln3Ter) rs1060499736
NM_003174.3(SVIL):c.2348C>T (p.Ser783Leu) rs767673427
NM_003314.3(TTC1):c.784T>G (p.Phe262Val) rs1060499752
NM_003392.4(WNT5A):c.479C>G (p.Ser160Cys) rs1553677971
NM_003392.4(WNT5A):c.487_492dup (p.Gly163_Cys164dup) rs1553677967
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) rs1060499764
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met) rs755579388
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163
NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg) rs138686233
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004521.3(KIF5B):c.2252A>G (p.His751Arg) rs1114167297
NM_004651.3(USP11):c.722G>A (p.Arg241Gln) rs780096892
NM_004674.5(ASH2L):c.1726A>G (p.Ile576Val) rs1060499744
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs) rs1555418832
NM_005612.5(REST):c.1310T>A (p.Leu437Ter) rs1553904077
NM_005612.5(REST):c.2413del (p.Leu805fs) rs1553904346
NM_005612.5(REST):c.2865_2866del (p.Asn958fs) rs1553904481
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys) rs869312860
NM_005691.3(ABCC9):c.2019+2T>C rs1555100687
NM_005781.4(TNK2):c.2630G>A (p.Arg877His) rs112384084
NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) rs749203329
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302
NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys) rs587777513
NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys) rs587777512
NM_006439.5(MAB21L2):c.152G>A (p.Arg51His) rs587777511
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln) rs587777514
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006940.6(SOX5):c.1831C>G (p.Arg611Gly) rs869312867
NM_007327.4(GRIN1):c.679G>C (p.Asp227His) rs869312865
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_012156.2(EPB41L1):c.1912C>T (p.Arg638Cys) rs1060499773
NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser) rs61751035
NM_012437.6(SNAPIN):c.163C>T (p.Arg55Trp) rs1060499751
NM_013382.5(POMT2):c.431T>G (p.Met144Arg) rs1060499766
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014683.4(ULK2):c.1733A>G (p.His578Arg) rs1060499754
NM_014795.4(ZEB2):c.271_277del (p.Gly91fs) rs1060499770
NM_014874.3(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.3(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.3(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014877.4(HELZ):c.3322A>G (p.Ile1108Val) rs1060499747
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs) rs869320624
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015158.4(KANK1):c.3237C>G (p.Ile1079Met) rs372628779
NM_015192.4(PLCB1):c.2179T>A (p.Trp727Arg) rs1060499765
NM_015243.2(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_015243.2(VPS13B):c.412+1G>T rs1057517295
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015560.2(OPA1):c.868C>T (p.Arg290Trp) rs780333963
NM_015567.1(SLITRK5):c.2515G>C (p.Glu839Gln) rs1060499750
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738
NM_016361.5(ACP6):c.379G>A (p.Val127Met) rs144959805
NM_016648.4(LARP7):c.832A>T (p.Lys278Ter) rs1060499762
NM_016952.4(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_018055.5(NODAL):c.194-1G>T rs1564667617
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) rs1564667180
NM_018125.4(ARHGEF10L):c.3646G>A (p.Asp1216Asn) rs149908903
NM_018136.5(ASPM):c.1727_1728AG[1] (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
NM_018136.5(ASPM):c.7571_7572GA[1] (p.Glu2525fs) rs1060499757
NM_018136.5(ASPM):c.9084+5G>A rs1060499758
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) rs773888308
NM_018297.4(NGLY1):c.314T>G (p.Ile105Ser) rs1060499777
NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) rs755919784
NM_018359.4(UFSP2):c.1373A>G (p.Tyr458Cys) rs544351411
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739
NM_020536.4(KAT14):c.1399G>A (p.Glu467Lys) rs771882905
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile) rs759222737
NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg) rs1060499743
NM_020987.5(ANK3):c.9652C>T (p.Leu3218Phe) rs1060499742
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021098.3(CACNA1H):c.6898A>G (p.Ile2300Val) rs775271588
NM_021150.4(GRIP1):c.1142G>T (p.Ser381Ile) rs1060499774
NM_021150.4(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter) rs200618384
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021911.2(GABRB2):c.754C>G (p.Pro252Ala) rs869312861
NM_022463.5(NXN):c.625C>T (p.Arg209Ter) rs1555610590
NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr) rs765227276
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772
NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) rs752134549
NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
NM_024548.4(CEP97):c.1148A>G (p.His383Arg) rs1060499739
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024783.4(AGBL2):c.1747C>T (p.Arg583Ter) rs764666741
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_030624.2(KLHL15):c.1474G>A (p.Val492Ile) rs1060499748
NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg) rs376997378
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) rs1114167296
NM_032208.2(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.2(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.2(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn) rs374879755
NM_032504.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_032504.1(UNC80):c.5098C>T (p.Pro1700Ser) rs869025316
NM_032504.1(UNC80):c.7607G>C (p.Arg2536Thr) rs869025317
NM_032504.1(UNC80):c.7757T>A (p.Leu2586Ter) rs869025319
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) rs782304760
NM_032630.3(CINP):c.637T>G (p.Ter213Gly) rs1060499740
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.1460G>A (p.Arg487His) rs779613772
NM_032727.4(INA):c.562G>A (p.Gly188Arg) rs920363358
NM_032829.2(FAM222A):c.284A>T (p.His95Leu) rs763757845
NM_052988.5(CDK10):c.1070G>A (p.Arg357His) rs772157816
NM_052988.5(CDK10):c.725C>G (p.Thr242Ser) rs1060499745
NM_058169.6(BORCS5):c.203-1G>T rs1555155556
NM_133170.4(PTPRT):c.1561-3C>T rs1060499749
NM_133170.4(PTPRT):c.206T>C (p.Val69Ala) rs762135776
NM_133265.3(AMOT):c.699G>C (p.Gln233His) rs869312862
NM_133645.3(MTO1):c.1862T>A (p.Leu621Gln) rs1060499776
NM_133645.3(MTO1):c.2008C>A (p.Arg670Ser) rs746382157
NM_138457.3(FOXP4):c.812del (p.Leu271fs) rs1114167294
NM_138555.4(KIF23):c.755T>A (p.Leu252His) rs748016594
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) rs1312300020
NM_152269.5(C12orf65):c.248del (p.Val83fs) rs587776508
NM_152707.4(SLC25A16):c.793C>T (p.Arg265Cys) rs869312864
NM_153816.6(SNX14):c.1672dup (p.Thr558fs) rs1554226470
NM_153832.2(GPR161):c.-5T>A rs200635937
NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr) rs1060499778
NM_175866.5(UHMK1):c.1214C>T (p.Pro405Leu) rs869312863
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_177433.3(MAGED2):c.1003del (p.Gln335fs) rs1114167295
NM_178152.3(DCX):c.190T>A (p.Tyr64Asn) rs1556405129
NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) rs199472712
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
Single allele

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