ClinVar Miner

List of variants reported as likely pathogenic for lymphoid system disorder by Baylor Genetics

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 302
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.145-1G>C rs1057516573 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.1019del (p.Ser340fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4117-2A>G
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
NM_000081.4(LYST):c.8613-2A>T
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1771del (p.Arg591fs)
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.735C>G (p.Tyr245Ter)
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp) rs1590739350
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)
NM_000543.5(SMPD1):c.950del (p.Ala317fs)
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.963del (p.His321fs)
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)
NM_001033855.3(DCLRE1C):c.1156+1G>A
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.246+2T>G
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
NM_001033855.3(DCLRE1C):c.306+1G>A
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.464+2T>C
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.538-1G>A
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
NM_001033855.3(DCLRE1C):c.678+1G>A
NM_001033855.3(DCLRE1C):c.678+2T>G
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.973-1G>A
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1051G>T (p.Glu351Ter)
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu) rs2064840907
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
NM_002435.3(MPI):c.1134del (p.Ile378fs)
NM_002435.3(MPI):c.1154del (p.Gln385fs)
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.130_133dup (p.Pro45fs)
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
NM_002435.3(MPI):c.16+1G>T
NM_002435.3(MPI):c.16+2T>C
NM_002435.3(MPI):c.17-2A>C
NM_002435.3(MPI):c.17-2A>G
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
NM_002435.3(MPI):c.287del (p.Phe96fs)
NM_002435.3(MPI):c.319del (p.Leu107fs)
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
NM_002435.3(MPI):c.432del (p.Phe145fs)
NM_002435.3(MPI):c.436C>T (p.Gln146Ter)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
NM_002435.3(MPI):c.487+1G>A
NM_002435.3(MPI):c.530dup (p.His178fs)
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
NM_002435.3(MPI):c.634C>T (p.Gln212Ter)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>C
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.875_879dup (p.Val294fs)
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.973del (p.Leu325fs)
NM_002435.3(MPI):c.991_1053+17del
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.942+1G>T
NM_003764.4(STX11):c.157_160del (p.Asp53fs)
NM_003764.4(STX11):c.325G>T (p.Glu109Ter)
NM_003764.4(STX11):c.337_352dup (p.His118delinsArgGlyTer)
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_003764.4(STX11):c.397_398del (p.Asn133fs)
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
NM_003764.4(STX11):c.551del (p.Gly184fs)
NM_003764.4(STX11):c.568dup (p.Ser190fs)
NM_003764.4(STX11):c.645dup (p.Arg216fs)
NM_003764.4(STX11):c.697del (p.Val233fs)
NM_003764.4(STX11):c.807C>A (p.Tyr269Ter)
NM_003764.4(STX11):c.83C>A (p.Ser28Ter) rs143547259
NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)
NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)
NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)
NM_006949.4(STXBP2):c.1044_1051del (p.His348fs)
NM_006949.4(STXBP2):c.1107+2T>G
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1179del (p.Leu394fs)
NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)
NM_006949.4(STXBP2):c.1356+1G>C
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1411C>T (p.Gln471Ter)
NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1538+1G>C
NM_006949.4(STXBP2):c.1538+2T>C
NM_006949.4(STXBP2):c.1610_1611dup (p.Val538fs)
NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.1697G>A (p.Gly566Asp)
NM_006949.4(STXBP2):c.229_239delinsG (p.Leu77fs)
NM_006949.4(STXBP2):c.253C>T (p.Gln85Ter)
NM_006949.4(STXBP2):c.255_265del (p.Ala86fs)
NM_006949.4(STXBP2):c.290dup (p.Thr98fs)
NM_006949.4(STXBP2):c.37+5G>A
NM_006949.4(STXBP2):c.429+1G>A
NM_006949.4(STXBP2):c.578+2T>C
NM_006949.4(STXBP2):c.652dup (p.Ser218fs)
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_018344.6(SLC29A3):c.2-4A>G
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) rs1761973773

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