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Items: 1 to 100 of 307

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
ACO2, APOL5, CBX6, CSDC2, CSF2RB, EIF4ENIF1, ELFN2, GCAT, GGA1, HSCB, IGLV2-8, IGLV3-1, KIAA1671, LINC01634, LINC01637, LINC01638, LINC02556, LINC02557, LINC01639, LINC01640, LINC01643, LINC01644, L3MBTL2, LHFPL7, LIF, LIF-AS1, LINC01651, LINC01656, LINC01659, LINC01664, LINC02554, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, KLHL22, L3MBTL2-AS1, LARGE-AS1, IGLV3-25, IGLV3-27, IGLV3-32, IGLV5-45, IGLV5-48, IGLV5-52, IGLV3-9, IGLV4-3, LARGE1, LGALS1, LGALS2, KREMEN1, IGLV3-10, IGLV3-12, IGLV3-16, IGL, IGLC1, IGLC2, IGLJ1, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLC3, IGLC7, IGLJ6, IGLJ7, IGLV4-60, IGLV4-69, IGLV5-37, IGLV6-57, IGLV7-43, GGT1, GGT2, GGT5, GGTLC2, GP1BB, GRAMD4, GRAP2, GRK3, GRK3-AS1, GGTLC3, GNAZ, GNB1L, IGLV3-19, IGLV3-21, IGLV3-22, HSERVPRODH, EMID1, FAM230D, FAM230E, FAM230H, FAM230I, ENTHD1, FAM230F, FAM230G, DGCR6, DGCR6L, FAM227A, FAM230A, FAM230B, IFT27, CSNK1E, CYB5R3, DEPDC5, DERL3, DESI1, DDTL, DDX17, DENND6B, CECR7, CELSR1, CCDC188, CDC42EP1, CDC45, CDPF1, DGCR10, DGCR11, DGCR2, DGCR5, CBX7, CBY1, CCDC116, CCDC117, CCDC134, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, ARSA, ARVCF, CCDC157, CECR2, CECR3, ADA2, ADORA2A, ADORA2A-AS1, AIFM3, ALG12, ANKRD54, ADM2, ADSL, AP1B1, APOL6, ARFGAP3, ARHGAP8, ACR, A4GALT, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CYP2D6, CYP2D7, CYTH4, DDT, DGCR8, DGCR9, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EIF3D, EIF3L, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM230J, FAM246A, FAM246B, FAM246C, FAM83F, FBLN1, FBXO7, FLJ30901, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, GTSE1, GTSE1-DT, GUCD1, H1-0, HDAC10, HDHD5, HDHD5-AS1, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, IGLL1, IGLL5, IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC01399, LINC01422, LINC01521, LINC01589, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100130899, LOC100506271, LOC100506472, LOC101927551, LOC101929372, LOC102724378, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC106780824, LOC106799832, LOC106799835, LOC107181287, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, LOC112268293, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627928, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121627939, LOC121627940, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853035, LOC121853036, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC121853041, LOC121853042, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC122455341, LOC284898, LOC284912, LOC284933, LOC339666, LOC339685, LOC90834, LRRC74B, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MGAT3-AS1, MIAT, MIATNB, MICAL3, MICALL1, MIEF1, MIF, MIF-AS1, MIOX, MIR12114, MIR1249, MIR1281, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3198-1, MIR3199-1, MIR3199-2, MIR3200, MIR3201, MIR33A, MIR3618, MIR3619, MIR3653, MIR3667, MIR3667HG, MIR378I, MIR3909, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MIR5571, MIR5739, MIR6069, MIR648, MIR649, MIR650, MIR658, MIR659, MIR6816, MIR6817, MIR6818, MIR6819, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MMP11, MN1, MORC2, MORC2-AS1, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MRTFA-AS1, MTFP1, MTMR3, MYH9, MYH9-DT, MYO18B, MYO18B-AS1, NAGA, NCAPH2, NCF4, NCF4-AS1, NDUFA6, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, NIPSNAP1, NOA3, NOL12, NPTXR, NUP50, NUP50-DT, ODF3B, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PDXP-DT, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SNAP29, SNORA50B, SNORA77B, SNORA92, SNORD125, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRMU, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
2.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SNAP29, SNORA50B, SNORA77B, SNORA92, SNORD125, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRMU, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1, A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADORA2A-AS1, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCDC188, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CECR7, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM83F, FBLN1, FBXO7, FLJ30901, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, GTSE1, GTSE1-DT, GUCD1, H1-0, HDAC10, HDHD5, HDHD5-AS1, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, HSERVPRODH, IFT27, IGL, IGLC1, IGLC2, IGLC3, IGLC7, IGLJ1, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLJ7, IGLL1, IGLL5, IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-10, IGLV3-12, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGLV3-27, IGLV3-32, IGLV3-9, IGLV4-3, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV5-52, IGLV6-57, IGLV7-43, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, KIAA1671, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC01399, LINC01422, LINC01521, LINC01589, LINC01634, LINC01637, LINC01638, LINC01639, LINC01640, LINC01643, LINC01644, LINC01651, LINC01656, LINC01659, LINC01664, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100130899, LOC100506271, LOC100506472, LOC101927551, LOC101929372, LOC102724378, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC106780824, LOC106799832, LOC106799835, LOC107181287, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, LOC112268293, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627928, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121627939, LOC121627940, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853035, LOC121853036, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC121853041, LOC121853042, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC122455341, LOC284898, LOC284912, LOC284933, LOC339666, LOC339685, LOC90834, LRRC74B, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MGAT3-AS1, MIAT, MIATNB, MICAL3, MICALL1, MIEF1, MIF, MIF-AS1, MIOX, MIR12114, MIR1249, MIR1281, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3198-1, MIR3199-1, MIR3199-2, MIR3200, MIR3201, MIR33A, MIR3618, MIR3619, MIR3653, MIR3667, MIR3667HG, MIR378I, MIR3909, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MIR5571, MIR5739, MIR6069, MIR648, MIR649, MIR650, MIR658, MIR659, MIR6816, MIR6817, MIR6818, MIR6819, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MMP11, MN1, MORC2, MORC2-AS1, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MRTFA-AS1, MTFP1, MTMR3, MYH9, MYH9-DT, MYO18B, MYO18B-AS1, NAGA, NCAPH2, NCF4, NCF4-AS1, NDUFA6, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, NIPSNAP1, NOA3, NOL12, NPTXR, NUP50, NUP50-DT, ODF3B, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PDXP-DT, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
3.
GRCh37:
Chr22:37457809-51177360
GRCh38:
Chr22:37061769-50738932
A4GALT, ACO2, ACR, ADM2, ADSL, ALG12, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, ARFGAP3, ARHGAP8, ARSA, ATF4, ATP5MGL, ATXN10, BAIAP2L2, BIK, BRD1, C1QTNF6, C22orf23, CACNA1I, CARD10, CBX6, CBX7, CBY1, CCDC134, CDC42EP1, CDPF1, CELSR1, CENPM, CERK, CHADL, CHKB, CHKB-CPT1B, CHKB-DT, CPT1B, CRELD2, CSDC2, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDX17, DENND6B, DESI1, DMC1, DNAJB7, DNAL4, EFCAB6, EFCAB6-AS1, EIF3L, ELFN2, ENTHD1, EP300, EP300-AS1, EPIC1, FAM118A, FAM227A, FAM83F, FBLN1, FLJ30901, GALR3, GCAT, GGA1, GRAMD4, GRAP2, GTPBP1, GTSE1, GTSE1-DT, H1-0, HDAC10, IL17REL, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KLHDC7B, KLHDC7B-DT, L3MBTL2, L3MBTL2-AS1, LGALS1, LGALS2, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01315, LINC01589, LINC01639, LINC01644, LINC01656, LINC02939, LMF2, LOC100130899, LOC100506271, LOC100506472, LOC101927551, LOC102724378, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110120880, LOC110120882, LOC110120883, LOC110120893, LOC110121397, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111828508, LOC111828509, LOC112268293, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC284933, LOC339685, LOC90834, MAFF, MAPK11, MAPK12, MAPK8IP2, MCAT, MCHR1, MEI1, MFNG, MGAT3, MGAT3-AS1, MICALL1, MIEF1, MIOX, MIR12114, MIR1249, MIR1281, MIR3201, MIR33A, MIR3619, MIR3667, MIR3667HG, MIR378I, MIR4534, MIR4535, MIR4762, MIR4763, MIR4766, MIR658, MIR659, MIR6820, MIR6821, MIR6889, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, MPPED1, MRTFA, MRTFA-AS1, NAGA, NCAPH2, NDUFA6, NUP50-DT, NDUFA6-DT, NFAM1, NHIP, NOL12, NPTXR, NUP50, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PDGFB, PDXP, PDXP-DT, PHETA2, PHF21B, PHF5A, PICK1, PIM3, PKDREJ, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RAC2, RANGAP1, RBX1, RIBC2, RNU12, RPL3, RPS19BP1, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SEPTIN3, SERHL2, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A17, SMC1B, SMDT1, SMIM45, SNORA92, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SREBF2-AS1, SSTR3, ST13, SULT4A1, SUN2, SYCE3, SYNGR1, TAB1, TAFA5, TBC1D22A, TBC1D22A-AS1, TCF20, TEF, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOMM22, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, XPNPEP3, XRCC6, ZBED4, ZC3H7B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr22:40598018-51174234
GRCh38:
Chr22:40202014-50735806
A4GALT, ACO2, ADM2, ADSL, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CCDC134, CDPF1, CELSR1, CENPM, CERK, CHADL, CHKB, CHKB-CPT1B, CHKB-DT, CPT1B, CRELD2, CSDC2, CYB5R3, CYP2D6, CYP2D7, DENND6B, DESI1, DNAJB7, EFCAB6, EFCAB6-AS1, EP300, EP300-AS1, EPIC1, FAM118A, FBLN1, FLJ30901, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, KLHDC7B-DT, L3MBTL2, L3MBTL2-AS1, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01315, LINC01589, LINC01639, LINC01644, LINC01656, LINC02939, LMF2, LOC101927551, LOC105373044, LOC105373064, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110121397, LOC110740340, LOC110740341, LOC111556137, LOC111562373, LOC111828508, LOC111828509, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC116309137, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MCAT, MCHR1, MEI1, MIOX, MIR12114, MIR1249, MIR1281, MIR3201, MIR33A, MIR3619, MIR3667, MIR3667HG, MIR378I, MIR4535, MIR4762, MIR4763, MIR4766, MIR6821, MIR6889, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, MPPED1, MRTFA, MRTFA-AS1, NAGA, NCAPH2, NDUFA6, NDUFA6-DT, NFAM1, NHIP, NUP50, NUP50-DT, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PHF5A, PIM3, PKDREJ, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR3H, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RANGAP1, RBX1, RIBC2, RNU12, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SEPTIN3, SERHL2, SGSM3, SHANK3, SHISA8, SHISAL1, SLC25A17, SMC1B, SMDT1, SMIM45, SNORD140, SNU13, SREBF2, SREBF2-AS1, ST13, SULT4A1, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TCF20, TEF, TNFRSF13C, TNRC6B, TOB2, TRABD, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, XPNPEP3, XRCC6, ZBED4, ZC3H7B
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr22:41673826-42810963
GRCh38:
Chr22:41277822-42414957
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr22:42041343-42961804
GRCh38:
Chr22:41645339-42565798
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr22:42267147-51178264
GRCh38:
Chr22:41871143-50739836
A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CENPM, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CPT1B, CRELD2, CYB5R3, CYP2D6, CYP2D7, DENND6B, EFCAB6, EFCAB6-AS1, EPIC1, FAM118A, FBLN1, FLJ30901, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, KLHDC7B-DT, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01315, LINC01589, LINC01639, LINC01644, LINC01656, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110121397, LOC110740340, LOC110740341, LOC111556137, LOC111828508, LOC111828509, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIR12114, MIR1249, MIR3201, MIR33A, MIR3619, MIR3667, MIR3667HG, MIR378I, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, MPPED1, NAGA, NCAPH2, NDUFA6, NDUFA6-DT, NFAM1, NHIP, NUP50, NUP50-DT, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RIBC2, RNU12, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SEPTIN3, SERHL2, SHANK3, SHISA8, SHISAL1, SMC1B, SMDT1, SMIM45, SREBF2, SULT4A1, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TCF20, TNFRSF13C, TRABD, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, ZBED4
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr22:42476081-51178264
GRCh38:
Chr22:42080077-50739836
A4GALT, ACR, ADM2, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CDPF1, CELSR1, CERK, CHKB, CHKB-CPT1B, CHKB-DT, CPT1B, CRELD2, CYB5R3, CYP2D6, CYP2D7, DENND6B, EFCAB6, EFCAB6-AS1, EPIC1, FAM118A, FBLN1, FLJ30901, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, KLHDC7B-DT, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01315, LINC01589, LINC01639, LINC01644, LINC01656, LINC02939, LMF2, LOC101927551, LOC105373064, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108660404, LOC110121397, LOC110740340, LOC111556137, LOC111828508, LOC111828509, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MCAT, MIOX, MIR12114, MIR1249, MIR3201, MIR3619, MIR3667, MIR3667HG, MIR4535, MIR4762, MIR4763, MIR6821, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, MPPED1, NCAPH2, NDUFA6, NDUFA6-DT, NFAM1, NHIP, NUP50, NUP50-DT, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHF21B, PIM3, PKDREJ, PLXNB2, PNPLA3, PNPLA5, POLDIP3, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RIBC2, RNU12, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SERHL2, SHANK3, SHISAL1, SMC1B, SMDT1, SULT4A1, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TCF20, TRABD, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WNT7B, ZBED4
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
9.
GRCh37:
Chr22:42522148
GRCh38:
Chr22:42126146
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
10.
GRCh37:
Chr22:42522198
GRCh38:
Chr22:42126196
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
11.
GRCh37:
Chr22:42522213
GRCh38:
Chr22:42126211
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
12.
GRCh37:
Chr22:42522235
GRCh38:
Chr22:42126233
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
13.
GRCh37:
Chr22:42522244
GRCh38:
Chr22:42126242
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
14.
GRCh37:
Chr22:42522255
GRCh38:
Chr22:42126253
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
15.
GRCh37:
Chr22:42522312
GRCh38:
Chr22:42126310
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
16.
GRCh37:
Chr22:42522338
GRCh38:
Chr22:42126336
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
17.
GRCh37:
Chr22:42522392
GRCh38:
Chr22:42126390
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
18.
GRCh37:
Chr22:42522427
GRCh38:
Chr22:42126425
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
19.
GRCh37:
Chr22:42522464
GRCh38:
Chr22:42126462
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
20.
GRCh38:
Chr22:42126499-42130881
CYP2D6, LOC110740340Codeine responsedrug response
(Jan 30, 2015)
no assertion criteria provided
21.
GRCh37:
Chr22:42522534
GRCh38:
Chr22:42126532
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
22.
GRCh37:
Chr22:42522538
GRCh38:
Chr22:42126536
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
23.
GRCh37:
Chr22:42522613
GRCh38:
Chr22:42126611
CYP2D6not specified, Tramadol responseLikely benign
(Mar 9, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr22:42522613
GRCh38:
Chr22:42126611
CYP2D6S486T, S435Tnot specified, not providedBenign; other
(Aug 6, 2018)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr22:42522613
Chr22:42523943
GRCh38:
Chr22:42126611
Chr22:42127941
CYP2D6, CYP2D6S486T, S435T, R296C, R245CDebrisoquine, ultrarapid metabolism ofdrug response
(May 18, 2015)
no assertion criteria provided
26.
GRCh37:
Chr22:42522629
GRCh38:
Chr22:42126627
CYP2D6F430L, F481LTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
27.
GRCh37:
Chr22:42522669
GRCh38:
Chr22:42126667
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
28.
GRCh37:
Chr22:42522749
GRCh38:
Chr22:42126747
CYP2D6R441C, R390Cnot provideddrug responseno assertion criteria provided
29.
GRCh37:
Chr22:42522751
GRCh38:
Chr22:42126749
CYP2D6R440H, R389Hnot provideddrug responseno assertion criteria provided
30.
GRCh37:
Chr22:42522755
GRCh38:
Chr22:42126753
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
31.
GRCh37:
Chr22:42522805
GRCh38:
Chr22:42126803
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
32.
GRCh37:
Chr22:42522815
GRCh38:
Chr22:42126813
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
33.
GRCh37:
Chr22:42522821
GRCh38:
Chr22:42126819
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
34.
GRCh37:
Chr22:42522867
GRCh38:
Chr22:42126865
CYP2D6L383Q, L434QTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
35.
GRCh37:
Chr22:42522883
GRCh38:
Chr22:42126881
CYP2D6K378E, K429ETramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
36.
GRCh37:
Chr22:42522933
GRCh38:
Chr22:42126931
CYP2D6P361L, P412LTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
37.
GRCh37:
Chr22:42522946
GRCh38:
Chr22:42126944
CYP2D6V408I, V357ITramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
38.
GRCh37:
Chr22:42523003
GRCh38:
Chr22:42127001
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
39.
GRCh37:
Chr22:42523029
GRCh38:
Chr22:42127027
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
40.
GRCh37:
Chr22:42523171
GRCh38:
Chr22:42127169
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
41.
GRCh37:
Chr22:42523182
GRCh38:
Chr22:42127180
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
42.
GRCh37:
Chr22:42523209
GRCh38:
Chr22:42127207
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
43.
GRCh37:
Chr22:42523211
GRCh38:
Chr22:42127209
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
44.
GRCh37:
Chr22:42523216
GRCh38:
Chr22:42127214
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
45.
GRCh37:
Chr22:42523223
GRCh38:
Chr22:42127221
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
46.
GRCh37:
Chr22:42523358
GRCh38:
Chr22:42127356
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
47.
GRCh37:
Chr22:42523377
GRCh38:
Chr22:42127375
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
48.
GRCh37:
Chr22:42523406
GRCh38:
Chr22:42127404
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
49.
GRCh37:
Chr22:42523409
GRCh38:
Chr22:42127407
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
50.
GRCh37:
Chr22:42523412
GRCh38:
Chr22:42127410
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
51.
GRCh37:
Chr22:42523464
GRCh38:
Chr22:42127462
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
52.
GRCh37:
Chr22:42523505
GRCh38:
Chr22:42127503
CYP2D6G373S, G322STramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
53.
GRCh37:
Chr22:42523528
GRCh38:
Chr22:42127526
CYP2D6R314H, R365HTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
54.
GRCh37:
Chr22:42523531
GRCh38:
Chr22:42127529
CYP2D6Q364R, Q313RTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
55.
GRCh37:
Chr22:42523532
GRCh38:
Chr22:42127530
CYP2D6Q313*, Q364*Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
56.
GRCh37:
Chr22:42523610
GRCh38:
Chr22:42127608
CYP2D6V338M, V287Mnot providedLikely benign; other
(Aug 6, 2018)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr22:42523803
GRCh38:
Chr22:42127801
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
58.
GRCh37:
Chr22:42523805
GRCh38:
Chr22:42127803
CYP2D6not provided, Tramadol response, Tamoxifen response,
Deutetrabenazine response
Likely benign; drug response; other
(May 1, 2019)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr22:42523826
GRCh38:
Chr22:42127824
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
60.
GRCh37:
Chr22:42523840
GRCh38:
Chr22:42127838
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
61.
GRCh37:
Chr22:42523848-42523866
GRCh38:
Chr22:42127846-42127864
CYP2D6M321fs, M270fsnot provideddrug responseno assertion criteria provided
62.
GRCh37:
Chr22:42523858
GRCh38:
Chr22:42127856
CYP2D6H324P, H273Pnot providedLikely benign; other
(Aug 6, 2018)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr22:42523887
GRCh38:
Chr22:42127885
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
64.
GRCh37:
Chr22:42523888
GRCh38:
Chr22:42127886
CYP2D6L314P, L263PTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
65.
GRCh37:
Chr22:42523893
GRCh38:
Chr22:42127891
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
66.
GRCh37:
Chr22:42523923
GRCh38:
Chr22:42127921
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
67.
GRCh37:
Chr22:42523943
GRCh38:
Chr22:42127941
CYP2D6not providedother
(Aug 6, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr22:42523943
GRCh38:
Chr22:42127941
CYP2D6not specified, Tramadol responseLikely benign
(Mar 9, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr22:42523943
GRCh38:
Chr22:42127941
CYP2D6R296C, R245Cnot specifiedBenign
(Feb 27, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr22:42523955
GRCh38:
Chr22:42127953
CYP2D6D241N, D292NTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
71.
GRCh37:
Chr22:42523956
GRCh38:
Chr22:42127954
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
72.
GRCh37:
Chr22:42523992
GRCh38:
Chr22:42127990
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
73.
GRCh37:
Chr22:42524003
GRCh38:
Chr22:42128001
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
74.
GRCh37:
Chr22:42524014
GRCh38:
Chr22:42128012
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
75.
GRCh37:
Chr22:42524088
GRCh38:
Chr22:42128086
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
76.
GRCh37:
Chr22:42524118
GRCh38:
Chr22:42128116
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
77.
GRCh37:
Chr22:42524130
GRCh38:
Chr22:42128128
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
78.
GRCh37:
Chr22:42524176-42524178
GRCh38:
Chr22:42128174-42128176
CYP2D6K281del, K230delnot provided, Tramadol responseLikely benign; other
(Aug 6, 2018)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr22:42524183
GRCh38:
Chr22:42128181
CYP2D6M279K, M228KTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
80.
GRCh37:
Chr22:42524187
GRCh38:
Chr22:42128185
CYP2D6E227K, E278KTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
81.
GRCh37:
Chr22:42524207
GRCh38:
Chr22:42128205
CYP2D6L271P, L220PTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
82.
GRCh37:
Chr22:42524218
GRCh38:
Chr22:42128216
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
83.
GRCh37:
Chr22:42524225
GRCh38:
Chr22:42128223
CYP2D6A265V, A214VTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
84.
GRCh37:
Chr22:42524228
GRCh38:
Chr22:42128226
CYP2D6P264L, P213LTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
85.
GRCh37:
Chr22:42524244
GRCh38:
Chr22:42128242
CYP2D6R259fs, R208fsnot provided, Debrisoquine, poor metabolism ofLikely benign; other
(Aug 6, 2018)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr22:42524251
GRCh38:
Chr22:42128249
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
87.
GRCh37:
Chr22:42524258
GRCh38:
Chr22:42128256
CYP2D6L254P, L203PTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
88.
GRCh37:
Chr22:42524264
GRCh38:
Chr22:42128262
CYP2D6D252G, D201GTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
89.
GRCh37:
Chr22:42524265
GRCh38:
Chr22:42128263
CYP2D6D252N, D201NTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
90.
GRCh37:
Chr22:42524310
GRCh38:
Chr22:42128308
CYP2D6A237S, A186Snot specified, Tramadol responseLikely benign
(Mar 9, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr22:42524312
GRCh38:
Chr22:42128310
CYP2D6L185P, L236PTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
92.
GRCh37:
Chr22:42524323
GRCh38:
Chr22:42128321
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
93.
GRCh37:
Chr22:42524327
GRCh38:
Chr22:42128325
CYP2D6L180P, L231PTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
94.
GRCh37:
Chr22:42524333
GRCh38:
Chr22:42128331
CYP2D6V178A, V229ATramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
95.
GRCh37:
Chr22:42524368
GRCh38:
Chr22:42128366
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
96.
GRCh37:
Chr22:42524476
GRCh38:
Chr22:42128474
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
97.
GRCh37:
Chr22:42524502
GRCh38:
Chr22:42128500
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
98.
GRCh37:
Chr22:42524531
GRCh38:
Chr22:42128529
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
99.
GRCh37:
Chr22:42524553
GRCh38:
Chr22:42128551
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
100.
GRCh37:
Chr22:42524554
GRCh38:
Chr22:42128552
CYP2D6Tramadol responsedrug response
(Apr 28, 2018)
no assertion criteria provided
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