ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "benign"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 152

HGVS dbSNP
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
NC_012920.1:m.15470T>C rs527236187
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.3(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000053.3(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673
NM_000146.3(FTL):c.163T>C (p.Leu55=) rs2230267
NM_000153.3(GALC):c.1162-4delT rs11300320
NM_000155.3(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.3(GALT):c.820+13A>G rs111033768
NM_000159.3(GCDH):c.*165A>G rs8012
NM_000159.3(GCDH):c.*288G>T rs9384
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000260.3(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000264.4(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000443.3(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1887C>T (p.Phe629=) rs751234870
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_001005741.2(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_001014796.2(DDR2):c.1513G>A (p.Gly505Ser) rs115169993
NM_001033855.2(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del) rs386833764
NM_001100112.1(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_001111125.2(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_002052.4(GATA4):c.1129A>G (p.Ser377Gly) rs3729856
NM_002222.5(ITPR1):c.3822C>T (p.Asn1274=) rs182840163
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) rs34474212
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003126.3(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003476.4(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003494.3(DYSF):c.383G>A (p.Gly128Glu) rs34997054
NM_003803.3(MYOM1):c.1900+3A>C rs77613865
NM_003900.4(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004183.3(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004431.4(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549
NM_004586.2(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_004807.2(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589
NM_005477.2(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_005781.4(TNK2):c.2630G>A (p.Arg877His) rs112384084
NM_006214.3(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006267.4(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006579.2(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006610.3(MASP2):c.359A>G (p.Asp120Gly) rs72550870
NM_006612.5(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.5(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_012144.3(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_012224.2(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.2(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_014363.5(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014929.3(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152
NM_017534.5(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017636.3(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_020223.3(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_024422.3(DSC2):c.2368_2370delGGA (p.Gly790del) rs377272752
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_025000.3(DCAF17):c.322-14C>T rs192861143
NM_032119.3(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_033071.3(SYNE1):c.19479+3G>A rs150304757
NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) rs68080670
NM_133499.2(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_138694.3(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152778.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_206933.2(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_207034.2(EDN3):c.565dup (p.Thr189Asnfs) rs11570344
UGT1A1*6 rs4148323

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