U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 506

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
AASS, ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABCF2-H2BK1, ABHD11, ABHD11-AS1, ACHE, ACTB, ACTL6B, ACTR3B, ACTR3C, ADAM22, ADAP1, ADCK2, ADCY1, ADCYAP1R1, AEBP1, AGAP3, AGBL3, AGFG2, AGK, AGK-DT, AGMO, AGR2, AGR3, AHCYL2, AHR, AIMP2, AKAP9, AKR1B1, AKR1B10, AKR1B15, AKR1D1, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANKRD7, ANLN, AOAH, AOAH-IT1, AOC1, AP1S1, AP4M1, AP5Z1, APTR, AQP1, ARF5, ARHGEF35, ARHGEF35-AS1, ARHGEF5, ARL4A, ARMC10, ARPC1A, ARPC1B, ASB10, ASB15, ASB15-AS1, ASB4, ASIC3, ASL, ASNS, ASZ1, ATG9B, ATP5MF, ATP5MF-PTCD1, ATP6V0A4, ATP6V0E2, ATP6V0E2-AS1, ATP6V1F, ATXN7L1, AUTS2, AVL9, AZGP1, BAIAP2L1, BAZ1B, BBS9, BCAP29, BCL7B, BET1, BET1-AS1, BHLHA15, BLACE, BLVRA, BMPER, BMT2, BPGM, BRAF, BRAT1, BRI3, BUD23, BUD31, BZW2, C1GALT1, C7orf25, C7orf33, C7orf50, C7orf57, C7orf76, CACNA2D1, CACNA2D1-AS1, CADPS2, CALCR, CALD1, CALN1, CALU, CAMK2B, CAPZA2, CARD11, CARD11-AS1, CASD1, CASP2, CASTOR2, CAV1, CAV2, CBLL1, CBLL1-AS1, CBX3, CCDC126, CCDC136, CCDC146, CCDC201, CCDC71L, CCL24, CCL26, CCM2, CCT6A, CCZ1, CCZ1B, CD36, CDC14C, CDCA7L, MIR6133, MIR6509, MIR653, MIR671, MIR6836, MIR6837, MIR6838, MIR6839, MIR6840, MIR6874, MIR6875, MIR6892, MIR93, MIR96, MKLN1, MKLN1-AS, MKRN1, MLXIPL, MMD2, MNX1, MNX1-AS1, MNX1-AS2, MOGAT3, MOSPD3, MPLKIP, MRM2, MRPL32, MRPS17, MRPS24, MRPS33, MTERF1, MTPN, MTRNR2L6, MTURN, MUC12, MUC12-AS1, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCAPG2, NCF1, NDUFA4, NDUFA5, NDUFB2, NDUFB2-AS1, NEUROD6, NFE2L3, NFE4, NIPSNAP2, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPSR1-AS1, NPTX2, NPVF, NPY, NRCAM, NRF1, NSUN5, NT5C3A, NUB1, NUDCD3, NUDT1, NUP205, NUP42, NUPR2, NXPH1, NYAP1, OCM, OCM2, OGDH, OPN1SW, OR10AC1, OR2A1, OR2A1-AS1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2A7, OR2AE1, OR2F1, OR2F2, OR6B1, OR6V1, OR9A2, OR9A4, ORAI2, ORC5, ORS8, OSBPL3, PALS2, PAPOLB, PARP12, PAX4, PAXIP1, PAXIP1-AS2, PAXIP1-DT, PCLO, PCOLCE, PCOLCE-AS1, PDAP1, PDE1C, PDGFA, PDGFA-DT, PDIA4, PDK4, PEG10, PEX1, PGAM2, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PILRB, PIP, PKD1L1, PKD1L1-AS1, PLEKHA8, PLOD3, PLXNA4, PMPCB, PMS2, PNPLA8, PODXL, POLD2, POLM, POLR1F, POLR2J, POLR2J2, POLR2J2-UPK3BL1, POLR2J3, POLR2J3-UPK3BL2, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POP7, POR, POT1, POT1-AS1, POU6F2, POU6F2-AS1, POU6F2-AS2, PPIA, PPP1R17, PPP1R35, PPP1R35-AS1, PPP1R3A, PPP1R9A, PPP1R9A-AS1, PRKAR2B, PRKAG2, PRKAG2-AS1, PRKAG2-AS2, PRKAR1B, PRKAR1B-AS1, PRKAR1B-AS2, PRKAR2B-AS1, PRKRIP1, PRPS1L1, PRR15, PRR15-DT, PRRT4, PRSS1, PRSS2, PRSS37, PRSS58, PSMA2, PSMC2, PSMG3, PSMG3-AS1, PSPH, PTCD1, PTN, PTPN12, PTPRN2, PTPRN2-AS1, PTPRZ1, PTTG1IP2, PURB, PUS7, PVRIG, RAB19, RABGEF1, RAC1, RADIL, RALA, RAMP3, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBAKDN, RBM28, RBM33, RBM33-DT, RBM48, RCC1L, RELN, REPIN1, REPIN1-AS1, RFC2, RHBDD2, RHEB, RINT1, RNF133, RNF148, RNF216, RNF216-IT1, RNF32, RNF32-AS1, RNF32-DT, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, RSBN1L, RSPH10B, RSPH10B2, RUNDC3B, SAGSIN1, SAMD9, SAMD9L, SAP25, SBDS, SBE2, SCARNA28, SCIN, SCRN1, SDHAF3, SDK1, SDK1-AS1, SEC61G, SEC61G-DT, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPTIN14, SEPTIN7, SEPTIN7-DT, SERPINE1, SFRP4, SGCE, SH2B2, SHH, SKAP2, SLC12A9, SLC12A9-AS1, SLC13A1, SLC13A4, SLC25A13, SLC25A40, SLC26A3, SLC26A4, SLC26A4-AS1, SLC26A5, SLC26A5-AS1, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMARCD3, SMIM30, SMKR1, SMO, SMURF1, SND1, SND1-DT, SND1-IT1, SNHG15, SNHG26, SNORA114, SNORA14A, SNORA15, SNORA15B-1, SNORA15B-2, SNORA20B, SNORA22, SNORA22B, SNORA22C, SNORA25B, SNORA5A, SNORA5B, SNORA5C, SNORA80D, SNORA9, SNORD151, SNORD165, SNORD65C, SNORD93, SNX10, SNX10-AS1, SNX13, SNX8, SOSTDC1, SP4, SP8, SPACDR, SPAM1, SPDYE1, SPDYE10, SPDYE11, SPDYE12, SPDYE13, SPDYE14, SPDYE15, SPDYE16, SPDYE17, SPDYE18, SPDYE2, SPDYE21, SPDYE2B, SPDYE3, SPDYE5, SPDYE6, SPDYE7P, SPDYE8, SPDYE9, SPMIP1, SPMIP4, SPMIP7, SRI, SRI-AS1, SRPK2, SRRM3, SRRT, SSBP1, SSC4D, SSMEM1, SSU72L6, ST7, ST7-AS1, ST7-AS2, ST7-OT3, ST7-OT4, STAG3, STAG3L5P-PVRIG2P-PILRB, STARD3NL, STEAP1, STEAP1B, STEAP1B-AS1, STEAP2, STEAP2-AS1, STEAP4, STK17A, STK31, STMP1, STRA8, STRIP2, STX1A, STYXL1, SUGCT, SUGCT-AS1, SUMF2, SUN1, SUN3, SVOPL, SYPL1, TAC1, TAF6, TARP, TAS2R16, TAS2R3, TAS2R38, TAS2R39, TAS2R4, TAS2R40, TAS2R41, TAS2R5, TAS2R60, TAX1BP1, TAX1BP1-AS1, TBL2, TBRG4, TBX20, TBXAS1, TCAF1, TCAF2, TECPR1, TES, TEX47, TFEC, TFPI2, TFPI2-DT, TFR2, THAP5, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM139, TMEM139-AS1, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM196, TMEM209, TMEM213, TMEM225B, TMEM229A, TMEM243, TMEM248, TMEM270, TMEM60, TMUB1, TNPO3, TNRC18, TNS3, TOMM7, TP53TG1, TPK1, TPST1, TRA2A, TRAPPC14, TRB, TRBC1, TRBC2, TRBD1, TRBD2, TRBJ1-1, TRBJ1-2, TRBJ1-3, TRBJ1-4, TRBJ1-5, TRBJ1-6, TRBJ2-1, TRBJ2-2, TRBJ2-3, TRBJ2-4, TRBJ2-5, TRBJ2-6, TRBJ2-7, TRBV10-1, TRBV10-2, TRBV10-3, TRBV11-1, TRBV11-2, TRBV11-3, TRBV12-3, TRBV12-4, TRBV12-5, TRBV13, TRBV14, TRBV15, TRBV17, TRBV18, TRBV19, TRBV2, TRBV20-1, TRBV24-1, TRBV25-1, TRBV27, TRBV28, TRBV29-1, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-1, TRBV6-3, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-8, TRBV7-2, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-9, TRBV9, TRC-GCA1-1, TRC-GCA10-1, TRC-GCA11-1, TRC-GCA12-1, TRC-GCA13-1, TRC-GCA15-1, TRC-GCA16-1, TRC-GCA17-1, TRC-GCA18-1, TRC-GCA19-1, TRC-GCA20-1, TRC-GCA21-1, TRC-GCA22-1, TRC-GCA23-1, TRC-GCA3-1, TRC-GCA9-2, TRC-GCA9-3, TRC-GCA9-4, TRG, TRG-AS1, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, CDHR3, CDK13, CDK13-DT, CDK14, CDK5, CDK6, CDK6-AS1, CEP41, CFAP69, CFTR, CFTR-AS1, CHCHD2, CHCHD3, CHN2, CHN2-AS1, CHPF2, CHRM2, CHST12, CICP24, CLCN1, CLDN12, CLDN15, CLDN3, CLDN4, CLEC2L, CLEC5A, CLIP2, CNOT4, CNPY1, CNPY4, CNTNAP2, CNTNAP2-AS1, COA1, COBL, COG5, COL1A2, COL1A2-AS1, COL26A1, COL28A1, COMETT, COPG2, COPG2IT1, COPS6, COX19, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CPVL-AS2, CRCP, CREB3L2, CREB3L2-AS1, CREB5, CRHR2, CROT, CRPPA, CRPPA-AS1, CRYGN, CT66, CTAGE15, CTAGE4, CTAGE6, CTAGE8, CTB-30L5.1, CTTNBP2, CUL1, CUX1, CYCS, CYP2W1, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, CYP51A1, CYP51A1-AS1, CYREN, CYTH3, CZ1P-ASNS, DAGLB, DBF4, DBNL, DDC, DDC-AS1, DDX3ILA1, DDX56, DENND11, DENND2A, DGKB, DGKI, DKFZp434L192, DLD, DLX5, DLX6, DLX6-AS1, DMTF1, DMTF1-AS1, DNAAF5, DNAH11, DNAJB6, DNAJB9, DNAJC2, DNAJC30, DOCK4, DOCK4-AS1, DPP6, DPY19L1, DTX2, DUS4L, DUS4L-BCAP29, DYNC1I1, DYNC2I1, EEPD1, EFCAB10, EFCAB10-AS1, EGFR, EGFR-AS1, EIF2AK1, EIF3B, EIF4H, ELAPOR2, ELDR, ELFN1, ELFN1-AS1, ELMO1, ELMO1-AS1, ELN, ELN-AS1, EMSLR, EN2, EPDR1, EPHA1, EPHA1-AS1, EPHB4, EPHB6, EPO, ERV3-1, ERV3-1-ZNF117, ERVW-1, ESYT2, ETV1, EVX1, EVX1-AS, EXOC4, EZH2, FAM131B, FAM131B-AS1, FAM131B-AS2, FAM133B, FAM180A, FAM185A, FAM200A, FAM20C, FAM220A, FAM221A, FAM237B, FAM3C, FASTK, FBXL13, FBXL18, FBXO24, FERD3L, FEZF1, FEZF1-AS1, FGL2, FIGNL1, FIS1, FKBP14, FKBP14-AS1, FKBP6, FKBP9, FLJ20712, FLJ40288, FLNC, FLNC-AS1, FMC1, FMC1-LUC7L2, FOXK1, FOXL3, FOXL3-OT1, FOXP2, FRA7A, FSCN1, FSCN3, FZD1, FZD9, GAL3ST4, GALNT11, GALNT17, GALNTL5, GARIN1A, GARIN1B, GARS1, GARS1-DT, GATAD1, GBX1, GCC1, GCK, GET4, GGCT, GHET1, GHRHR, GIGYF1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GIRGL, GJC3, GLCCI1, GLCCI1-DT, GLI3, GNA12, GNAI1, GNAT3, GNB2, GNG11, GNGT1, GPC2, GPER1, GPNMB, GPR141, GPR146, GPR22, GPR37, GPR85, GRB10, GRID2IP, GRIFIN, GRM3, GRM3-AS1, GRM8, GRM8-AS1, GS1-278J22.2, GSAP, GSDME, GSTK1, GTF2I, GTF2I-AS1, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, H2AZ2, H2AZ2-DT, H2BK1, HBP1, HDAC9, HDAC9-AS1, HECW1, HECW1-IT1, HEPACAM2, HERPUD2, HERPUD2-AS1, HERV.E-PTN, HGF, HIBADH, HILPDA, HILPDA-AS1, HIP1, HIPK2, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA-AS2, HOXA-AS3, HOXA1, HOXA10, HOXA10-AS, HOXA10-HOXA9, HOXA11, HOXA11-AS, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HRAT17, HSPB1, HTR5A, HTR5A-AS1, HUS1, HYAL4, HYCC1, ICA1, ICA1-AS1, IFRD1, IFT22, IFT56, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IL6, IL6-AS1, IMMP2L, IMPDH1, ING3, INHBA, INHBA-AS1, INMT, INMT-MINDY4, INSIG1, INSIG1-DT, INTS1, INTS15, IQCA1L, IQCE, IQUB, IRF5, ITGB8, ITGB8-AS1, ITPRID1, JAZF1, JAZF1-AS1, KBTBD2, KCND2, KCNH2, KCP, KCTD7, KDELR2, KDM7A, KDM7A-DT, KEL, KIAA0087, KIAA1549, KLF14, KLHDC10, KLHL7, KLHL7-DT, KLRG2, KMT2C, KMT2E, KMT2E-AS1, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LAT2, LEP, LFNG, LHFPL3, LHFPL3-AS1, LHFPL3-AS2, LIMK1, LINC-PINT, LINC00174, LINC00244, LINC00265, LINC00513, LINC00525, LINC00689, LINC00957, LINC00972, LINC00996, LINC00997, LINC01000, LINC01003, LINC01004, LINC01005, LINC01007, LINC01022, LINC01162, LINC01176, LINC01287, LINC01372, LINC01392, LINC01393, LINC01445, LINC01446, LINC01447, LINC01448, LINC01449, LINC01450, LINC02476, LINC02577, LINC02587, LINC02604, LINC02830, LINC02838, LINC02848, LINC02860, LINC02888, LINC02889, LINC02902, LINC02903, LINC02932, LINC02981, LINC02983, LINC03006, LINC03007, LINC03008, LINC03009, LINC03010, LINC03011, LINC03012, LINC03013, LINC03014, LINC03015, LINC03016, LINC03017, LINC03043, LINC03060, LINC03076, LINC03095, LLCFC1, LMBR1, LMOD2, LMTK2, LNCPRESS1, LNCRI, LOC100128317, LOC100128653, LOC100128885, LOC100129148, LOC100129603, LOC100131472, LOC100134040, LOC100240728, LOC100287704, LOC100287834, LOC100506489, LOC100506937, LOC100630923, LOC100996437, LOC101927243, LOC101927269, LOC101927446, LOC101927550, LOC101927668, LOC101927769, LOC101927902, LOC101927914, LOC101928012, LOC101928211, LOC101928254, LOC101928283, LOC101928401, LOC101928618, LOC101928782, LOC101928807, LOC101928861, LOC101929050, LOC101929756, LOC101929998, LOC102723427, LOC102723446, LOC102724434, LOC102725191, LOC105369146, LOC105375113, LOC105375115, LOC105375120, LOC105375131, LOC105375146, LOC105375148, LOC105375166, LOC105375181, LOC105375218, LOC105375224, LOC105375233, LOC105375266, LOC105375297, LOC105375303, LOC105375341, LOC105375342, LOC105375387, LOC105375423, LOC105375429, LOC105375448, LOC105375483, LOC105375484, LOC105375504, LOC105375512, LOC105375523, LOC105375527, LOC105375553, LOC105375556, LOC105375589, LOC105375610, LOC106029311, LOC106029312, LOC106029313, LOC106049962, LOC106707174, LOC106728418, LOC106783492, LOC106783574, LOC106799841, LOC106799845, LOC107057645, LOC107126281, LOC107126288, LOC107197952, LOC107980434, LOC107986794, LOC107986838, LOC107986845, LOC108004521, LOC108004522, LOC108192210, LOC108228208, LOC108228209, LOC108251801, LOC108254663, LOC108254673, LOC108254689, LOC108281146, LOC108281155, LOC108281173, LOC108491823, LOC109623491, LOC110120589, LOC110120590, LOC110120618, LOC110120619, LOC110120649, LOC110120650, LOC110120651, LOC110120652, LOC110120653, LOC110120684, LOC110120685, LOC110120686, LOC110120687, LOC110120700, LOC110120719, LOC110120728, LOC110120735, LOC110120749, TRGV4, TRGV5, TRGV8, TRGV9, TRIL, TRIM24, TRIM4, TRIM50, TRIM56, TRIM73, TRIM74, TRIP6, TRP-AGG2-3, TRPV5, TRPV6, TRR-CCT4-1, TRRAP, TRS-AGA5-1, TRW-CCA5-1, TSC22D4, TSC22D4-C7ORF61, TSGA13, TSL, TSPAN12, TSPAN13, TSPAN33, TTYH3, TWIST1, TYW1, TYW1B, UBE2D4, UBE2H, UBE2H-DT, UBE3C, UBN2, UFSP1, UMAD1, UNCX, UPK3B, UPK3BL1, UPK3BL2, UPP1, URGCP, URGCP-MRPS24, USP42, VGF, VIPR2, VKORC1L1, VOPP1, VOPP1-DT, VPS37D, VPS41, VPS50, VSTM2A, VSTM2A-OT1, VWC2, VWDE, WASL, WASL-DT, WDR86, WDR86-AS1, WDR91, WEE2, WEE2-AS1, WIPF3, WIPI2, WNT16, WNT2, XRCC2, YAE1, YAE1-DT, YKT6, YWHAG, ZAN, ZASP, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZDHHC4, ZFAND2A, ZFAND2A-DT, ZKSCAN1, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF12, ZNF138, ZNF212, ZNF273, ZNF277, ZNF277-AS1, ZNF282, ZNF3, ZNF316, ZNF394, ZNF398, ZNF425, ZNF467, ZNF479, ZNF655, ZNF679, ZNF680, ZNF713, ZNF716, ZNF722, ZNF727, ZNF735, ZNF736, ZNF746, ZNF775, ZNF775-AS1, ZNF777, ZNF783, ZNF786, ZNF789, ZNF800, ZNF804B, ZNF853, ZNF862, ZNF92, ZNHIT1, ZNRF2, ZP3, ZPBP, ZRS, ZSCAN21, ZSCAN25, ZYX, LOC110120753, LOC110120758, LOC110120765, LOC110120772, LOC110120773, LOC110120775, LOC110120778, LOC110120786, LOC110120804, LOC110120810, LOC110120813, LOC110120822, LOC110120961, LOC110120964, LOC110120983, LOC110121006, LOC110121022, LOC110121030, LOC110121034, LOC110121044, LOC110121049, LOC110121058, LOC110121066, LOC110121094, LOC110121097, LOC110121099, LOC110121115, LOC110121152, LOC110121156, LOC110121158, LOC110121162, LOC110121164, LOC110121165, LOC110121166, LOC110121167, LOC110121168, LOC110121172, LOC110121180, LOC110121181, LOC110121185, LOC110121203, LOC110121207, LOC110121210, LOC110121212, LOC110121245, LOC110121252, LOC110121253, LOC110121254, LOC110121255, LOC110121275, LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC110121290, LOC110121291, LOC110121292, LOC110121293, LOC110121294, LOC110121295, LOC110121296, LOC110121297, LOC110121298, LOC110121299, LOC110121300, LOC110121304, LOC110121310, LOC110366354, LOC110366355, LOC110599567, LOC110599591, LOC110599592, LOC110973015, LOC111089942, LOC111365160, LOC111365161, LOC111365168, LOC111365177, LOC111365184, LOC111365192, LOC111413014, LOC111413044, LOC111413046, LOC111465017, LOC111591501, LOC111591502, LOC111591504, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674468, LOC111674470, LOC111674471, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674477, LOC111674478, LOC111674479, LOC111776221, LOC112267991, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113219474, LOC113219475, LOC113225348, LOC113225349, LOC113225350, LOC113225351, LOC113225352, LOC113523647, LOC113604967, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687173, LOC113687174, LOC113687175, LOC113687176, LOC113687177, LOC113687180, LOC113687181, LOC113687182, LOC113687183, LOC113687184, LOC113687185, LOC113687186, LOC113687187, LOC113687188, LOC113687190, LOC113687191, LOC113687192, LOC113687193, LOC113687194, LOC113687195, LOC113687196, LOC113687197, LOC113687198, LOC113687199, LOC113687200, LOC113687201, LOC113687202, LOC113687203, LOC113687204, LOC113687205, LOC113687206, LOC113687207, LOC113687208, LOC113743972, LOC113743973, LOC113743974, LOC113743975, LOC113748383, LOC113748384, LOC113748385, LOC113748386, LOC113748387, LOC113748388, LOC113748389, LOC113748390, LOC113748391, LOC113748392, LOC113748393, LOC113748394, LOC113748395, LOC113748396, LOC113748397, LOC113748398, LOC113748399, LOC113748400, LOC113748401, LOC113748402, LOC113748403, LOC113748404, LOC113748405, LOC113748406, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC113748412, LOC113748413, LOC113748414, LOC113748415, LOC113748416, LOC113748417, LOC113748418, LOC113748419, LOC113748420, LOC114004405, LOC114004406, LOC114004407, LOC114004408, LOC114255744, LOC114827811, LOC114827812, LOC114827813, LOC114827814, LOC114827815, LOC114827816, LOC114827829, LOC114827835, LOC114841038, LOC116183079, LOC116183082, LOC116183083, LOC116183084, LOC116183085, LOC116183086, LOC116183087, LOC116183088, LOC116183089, LOC116183090, LOC116183091, LOC116183092, LOC116183093, LOC116183094, LOC116183095, LOC116183096, LOC116186904, LOC116186905, LOC116186906, LOC116186907, LOC116186908, LOC116186909, LOC116186910, LOC116186911, LOC116186912, LOC116186913, LOC116186914, LOC116186915, LOC116186916, LOC116186917, LOC116186918, LOC116435278, LOC120766156, LOC120807605, LOC121144497, LOC121144498, LOC121144499, LOC121144500, LOC121144501, LOC121144502, LOC121144503, LOC121144504, LOC121175337, LOC121175338, LOC121175339, LOC121175340, LOC121175341, LOC121175342, LOC121175343, LOC121175344, LOC121175345, LOC121175346, LOC121175347, LOC121175348, LOC121175349, LOC121175350, LOC121175351, LOC121175352, LOC121175353, LOC121175354, LOC121175355, LOC121175356, LOC121175357, LOC121175358, LOC121175359, LOC121175360, LOC121175361, LOC121175362, LOC121175363, LOC121175364, LOC121175365, LOC121175366, LOC121175367, LOC121175368, LOC121175369, LOC121175370, LOC121175371, LOC121201614, LOC121201615, LOC121201616, LOC121201617, LOC121201618, LOC121201619, LOC121201620, LOC121201621, LOC121740675, LOC121740676, LOC121740677, LOC121740678, LOC121740679, LOC121740680, LOC121740681, LOC121740682, LOC121740683, LOC121740684, LOC121740685, LOC121740686, LOC121740687, LOC121740688, LOC121740689, LOC121740690, LOC121740691, LOC121740692, LOC121740693, LOC121740694, LOC121740695, LOC121740696, LOC121740697, LOC121740698, LOC121740699, LOC121740700, LOC121740701, LOC121740702, LOC121740703, LOC121740704, LOC121740705, LOC121740706, LOC121740707, LOC123924885, LOC123924886, LOC123924887, LOC123924888, LOC123924889, LOC123924890, LOC123924891, LOC123924892, LOC123924893, LOC123924894, LOC123924895, LOC123924896, LOC123924897, LOC123924898, LOC123924899, LOC123924900, LOC123924901, LOC123924902, LOC123924903, LOC123924904, LOC123924905, LOC123924906, LOC123924907, LOC123924908, LOC123924909, LOC123924910, LOC123924911, LOC123924912, LOC123924913, LOC123924914, LOC123924915, LOC123924916, LOC123924917, LOC123924918, LOC123924919, LOC123924920, LOC123924921, LOC123956119, LOC123956120, LOC123956121, LOC123956122, LOC123956123, LOC123956124, LOC123956125, LOC123956126, LOC123956127, LOC123956128, LOC123956129, LOC123956130, LOC123956131, LOC123956132, LOC123956133, LOC123956134, LOC123956135, LOC123956136, LOC123956137, LOC123956138, LOC123956139, LOC123956140, LOC123956141, LOC123956142, LOC123956143, LOC123956144, LOC123956145, LOC123956146, LOC123956147, LOC123956148, LOC123956149, LOC123956150, LOC123956151, LOC123956152, LOC123956154, LOC123956155, LOC123956156, LOC123956157, LOC123956158, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC123956165, LOC123956166, LOC123956167, LOC123956168, LOC123956169, LOC123956170, LOC123956171, LOC123956172, LOC123956173, LOC123956174, LOC123956175, LOC123956176, LOC123956177, LOC123956178, LOC123956179, LOC123956180, LOC123956181, LOC123956182, LOC123956183, LOC123956184, LOC123956185, LOC123956186, LOC123956187, LOC123956188, LOC123956189, LOC123956190, LOC123956191, LOC123956192, LOC123956193, LOC123956194, LOC123956195, LOC123956196, LOC123956197, LOC123956198, LOC123956199, LOC123956200, LOC123956201, LOC123956202, LOC123956203, LOC123956204, LOC123956205, LOC123956206, LOC123956207, LOC123956208, LOC123956209, LOC123956210, LOC123956211, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC123956216, LOC123956217, LOC123956218, LOC123956219, LOC123956220, LOC123956221, LOC123956222, LOC123956223, LOC123956224, LOC123956225, LOC123956226, LOC123956227, LOC123956228, LOC123956229, LOC123956230, LOC123956231, LOC123956232, LOC123956233, LOC123956234, LOC123956235, LOC123956236, LOC123956237, LOC123956238, LOC123956239, LOC123956240, LOC123956241, LOC123956242, LOC123956243, LOC123956244, LOC123956245, LOC123956246, LOC123956247, LOC123956248, LOC123956249, LOC123956250, LOC123956253, LOC123956254, LOC123956255, LOC123956257, LOC123956258, LOC123956259, LOC123956260, LOC123956261, LOC123956262, LOC123956263, LOC123956264, LOC123956265, LOC123956266, LOC123956267, LOC123956268, LOC123956269, LOC123956270, LOC123956271, LOC123956272, LOC123956273, LOC123956274, LOC123956275, LOC123956276, LOC123956277, LOC123956278, LOC123956279, LOC123956280, LOC123956281, LOC123956282, LOC123956283, LOC123956284, LOC123956285, LOC126859916, LOC126859917, LOC126859918, LOC126859919, LOC126859920, LOC126859921, LOC126859922, LOC126859923, LOC126859924, LOC126859925, LOC126859926, LOC126859927, LOC126859928, LOC126859929, LOC126859930, LOC126859931, LOC126859932, LOC126859933, LOC126859934, LOC126859935, LOC126859936, LOC126859937, LOC126859938, LOC126859939, LOC126859940, LOC126859941, LOC126859942, LOC126859943, LOC126859944, LOC126859945, LOC126859946, LOC126859947, LOC126859948, LOC126859949, LOC126859950, LOC126859951, LOC126859952, LOC126859953, LOC126859954, LOC126859955, LOC126859956, LOC126859957, LOC126859958, LOC126859959, LOC126859960, LOC126859961, LOC126859962, LOC126859963, LOC126859964, LOC126859965, LOC126859966, LOC126859967, LOC126859968, LOC126859969, LOC126859970, LOC126859971, LOC126859972, LOC126859973, LOC126859974, LOC126859975, LOC126859976, LOC126859977, LOC126859978, LOC126859979, LOC126859980, LOC126859981, LOC126859982, LOC126859983, LOC126859984, LOC126859985, LOC126859986, LOC126859987, LOC126859988, LOC126859989, LOC126859990, LOC126859991, LOC126859992, LOC126859993, LOC126859994, LOC126859995, LOC126859996, LOC126859997, LOC126859998, LOC126859999, LOC126860000, LOC126860001, LOC126860002, LOC126860003, LOC126860004, LOC126860005, LOC126860006, LOC126860007, LOC126860008, LOC126860009, LOC126860010, LOC126860011, LOC126860012, LOC126860013, LOC126860014, LOC126860015, LOC126860016, LOC126860017, LOC126860018, LOC126860019, LOC126860020, LOC126860021, LOC126860022, LOC126860023, LOC126860024, LOC126860025, LOC126860026, LOC126860027, LOC126860028, LOC126860029, LOC126860030, LOC126860031, LOC126860032, LOC126860033, LOC126860034, LOC126860035, LOC126860036, LOC126860037, LOC126860038, LOC126860039, LOC126860040, LOC126860041, LOC126860042, LOC126860043, LOC126860044, LOC126860045, LOC126860046, LOC126860047, LOC126860048, LOC126860049, LOC126860050, LOC126860051, LOC126860052, LOC126860053, LOC126860054, LOC126860055, LOC126860056, LOC126860057, LOC126860058, LOC126860059, LOC126860060, LOC126860061, LOC126860062, LOC126860063, LOC126860064, LOC126860065, LOC126860066, LOC126860067, LOC126860068, LOC126860069, LOC126860070, LOC126860071, LOC126860072, LOC126860073, LOC126860074, LOC126860075, LOC126860076, LOC126860077, LOC126860078, LOC126860079, LOC126860080, LOC126860081, LOC126860082, LOC126860083, LOC126860084, LOC126860085, LOC126860086, LOC126860087, LOC126860088, LOC126860089, LOC126860090, LOC126860091, LOC126860092, LOC126860093, LOC126860094, LOC126860095, LOC126860096, LOC126860097, LOC126860098, LOC126860099, LOC126860100, LOC126860101, LOC126860102, LOC126860103, LOC126860104, LOC126860105, LOC126860106, LOC126860107, LOC126860108, LOC126860109, LOC126860110, LOC126860111, LOC126860112, LOC126860113, LOC126860114, LOC126860115, LOC126860116, LOC126860117, LOC126860118, LOC126860119, LOC126860120, LOC126860121, LOC126860122, LOC126860123, LOC126860124, LOC126860125, LOC126860126, LOC126860127, LOC126860128, LOC126860129, LOC126860130, LOC126860131, LOC126860132, LOC126860133, LOC126860134, LOC126860135, LOC126860136, LOC126860137, LOC126860138, LOC126860139, LOC126860140, LOC126860141, LOC126860142, LOC126860143, LOC126860144, LOC126860145, LOC126860146, LOC126860147, LOC126860148, LOC126860149, LOC126860150, LOC126860151, LOC126860152, LOC126860153, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC126860161, LOC126860162, LOC126860163, LOC126860164, LOC126860165, LOC126860166, LOC126860167, LOC126860168, LOC126860169, LOC126860170, LOC126860171, LOC126860172, LOC126860173, LOC126860174, LOC126860175, LOC126860176, LOC126860177, LOC126860178, LOC126860179, LOC126860180, LOC126860181, LOC126860182, LOC126860183, LOC126860184, LOC126860185, LOC126860186, LOC126860187, LOC126860188, LOC126860189, LOC126860190, LOC126860191, LOC126860192, LOC126860193, LOC126860194, LOC126860195, LOC126860196, LOC126860197, LOC126860198, LOC126860199, LOC126860200, LOC126860201, LOC126860202, LOC126860203, LOC126860204, LOC126860205, LOC126860206, LOC126860207, LOC126860208, LOC126860209, LOC126860210, LOC126860211, LOC126860212, LOC126860213, LOC126860214, LOC126860215, LOC126860216, LOC126860217, LOC126860218, LOC126860219, LOC126860220, LOC126860221, LOC126860222, LOC126860223, LOC126860224, LOC126860225, LOC126860226, LOC126860227, LOC126860228, LOC126860229, LOC126860230, LOC126860231, LOC126860232, LOC126860233, LOC126860234, LOC126860235, LOC126860236, LOC126860237, LOC126860238, LOC126860239, LOC126860240, LOC126860241, LOC126860242, LOC126860243, LOC126860244, LOC126860245, LOC126860246, LOC126860247, LOC126860248, LOC126860249, LOC126860250, LOC126860251, LOC126860252, LOC126860253, LOC126860254, LOC126860255, LOC126860256, LOC126860257, LOC126860258, LOC126860259, LOC126860260, LOC126860261, LOC126860262, LOC126860263, LOC126860264, LOC126860265, LOC128031837, LOC128092247, LOC128772304, LOC128772305, LOC128772306, LOC128772307, LOC128772308, LOC128772309, LOC128772310, LOC128772311, LOC128772312, LOC128772313, LOC128772314, LOC128772315, LOC128772316, LOC128772317, LOC128772318, LOC128772319, LOC128772320, LOC128772321, LOC128772322, LOC128772323, LOC128772324, LOC128772325, LOC128772326, LOC128781589, LOC128781590, LOC221946, LOC285889, LOC349160, LOC389602, LOC401312, LOC401324, LOC401357, LOC442497, LOC646762, LOC728743, LOC730234, LOC730338, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRRN3, LRWD1, LSM5, LSM8, LSMEM1, LUARIS, LUC7L2, LUZP6, MACC1, MACC1-AS1, MAD1L1, MAFK, MAGI2, MAGI2-AS2, MAGI2-AS3, MALSU1, MATCAP2, MBLAC1, MCM7, MDFIC, MDH2, MEOX2, MEPCE, MEST, MESTIT1, MET, METTL27, METTL2B, MGAM, MGAM2, MGC4859, MICALL2, MINDY4, MIOS, MIOS-DT, MIR10399, MIR10525, MIR106B, MIR11400, MIR1183, MIR1200, MIR12119, MIR1285-1, MIR129-1, MIR1302-6, MIR148A, MIR153-2, MIR182, MIR183, MIR196B, MIR25, MIR29A, MIR29B1, MIR3146, MIR3147, MIR3147HG, MIR335, MIR339, MIR3609, MIR3654, MIR3666, MIR3683, MIR3907, MIR3914-1, MIR3914-2, MIR3943, MIR4283-1, MIR4283-2, MIR4284, MIR4285, MIR4467, MIR4468, MIR4648, MIR4649, MIR4650-1, MIR4650-2, MIR4651, MIR4652, MIR4653, MIR4655, MIR4656, MIR4657, MIR4658, MIR489, MIR490, MIR5090, MIR548F4, MIR548N, MIR548O, MIR550A1, MIR550A2, MIR550A3, MIR550B1, MIR550B2, MIR5692A1, MIR5692C2, MIR5707, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, MIR6132
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
2.
GRCh37:
Chr7:68847339-77453149
GRCh38:
Chr7:69382353-77823832
ABHD11, ABHD11-AS1, APTR, AUTS2, BAZ1B, BCL7B, BUD23, CALN1, CASTOR2, CCDC146, CCL24, CCL26, CLDN3, CLDN4, CLIP2, CT66, DNAJC30, DTX2, EIF4H, ELN, ELN-AS1, FGL2, FKBP6, FZD9, GALNT17, GSAP, GTF2I, GTF2I-AS1, GTF2IRD1, GTF2IRD2, GTF2IRD2B, HIP1, HSPB1, LAT2, LIMK1, LINC03009, LOC101927243, LOC106029311, LOC106029312, LOC106029313, LOC108004522, LOC108228208, LOC108228209, LOC108254673, LOC110120735, LOC110120804, LOC110121097, LOC110121181, LOC110121297, LOC110121298, LOC110121299, LOC110121300, LOC111413044, LOC113748406, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC113748412, LOC113748413, LOC113748414, LOC116183091, LOC121175345, LOC121175346, LOC121175347, LOC121740686, LOC121740687, LOC121740688, LOC123956157, LOC123956158, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC123956165, LOC123956166, LOC123956167, LOC123956168, LOC123956169, LOC123956170, LOC123956171, LOC123956172, LOC126860068, LOC126860069, LOC126860070, LOC126860071, LOC126860072, LOC126860073, LOC126860074, LOC126860075, LOC126860076, LOC126860077, MDH2, METTL27, MIR10525, MIR3914-1, MIR3914-2, MIR4284, MIR4650-2, MIR4651, MIR590, MLXIPL, NCF1, NSUN5, PHTF2, POM121, POM121C, POMZP3, POR, PTPN12, RCC1L, RFC2, RHBDD2, RSBN1L, SNORA14A, SPDYE10, SPDYE11, SPDYE12, SPDYE13, SPDYE14, SPDYE15, SPDYE16, SPDYE17, SPDYE18, SPDYE5, SPDYE7P, SPDYE8, SPDYE9, SRRM3, SSC4D, STX1A, STYXL1, TBL2, TMEM120A, TMEM270, TMEM60, TRIM50, TRIM73, TRIM74, TYW1B, UPK3B, VPS37D, YWHAG, ZP3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr7:70690330-81364973
GRCh38:
Chr7:71225344-81735657
ABHD11, ABHD11-AS1, APTR, BAZ1B, BCL7B, BUD23, CALN1, CASTOR2, CCDC146, CCL24, CCL26, CD36, CLDN3, CLDN4, CLIP2, DDX3ILA1, DNAJC30, DTX2, EIF4H, ELN, ELN-AS1, FGL2, FKBP6, FZD9, GALNT17, GNAI1, GNAT3, GSAP, GTF2I, GTF2I-AS1, GTF2IRD1, GTF2IRD2, GTF2IRD2B, HGF, HIP1, HSPB1, LAT2, LIMK1, LINC03009, LOC100128317, LOC101927243, LOC101927269, LOC105369146, LOC106029311, LOC106029312, LOC106029313, LOC108228208, LOC108228209, LOC108254673, LOC111413044, LOC111413046, LOC113748406, LOC113748407, LOC113748408, LOC113748409, LOC113748410, LOC113748411, LOC113748412, LOC113748413, LOC113748414, LOC116183091, LOC121175345, LOC121175346, LOC121175347, LOC121175348, LOC121175349, LOC121740686, LOC121740687, LOC121740688, LOC123956159, LOC123956160, LOC123956161, LOC123956162, LOC123956163, LOC123956164, LOC123956165, LOC123956166, LOC123956167, LOC123956168, LOC123956169, LOC123956170, LOC123956171, LOC123956172, LOC123956173, LOC126860070, LOC126860071, LOC126860072, LOC126860073, LOC126860074, LOC126860075, LOC126860076, LOC126860077, LOC126860078, LOC126860079, LOC126860080, LOC126860081, LOC126860082, LOC126860083, LOC126860084, LOC126860085, LOC126860086, MAGI2, MAGI2-AS2, MAGI2-AS3, MDH2, METTL27, MIR10525, MIR3914-1, MIR3914-2, MIR4284, MIR4650-2, MIR4651, MIR590, MLXIPL, NCF1, NSUN5, PHTF2, POM121, POM121C, POMZP3, POR, PTPN12, RCC1L, RFC2, RHBDD2, RSBN1L, SEMA3C, SNORA14A, SPDYE10, SPDYE11, SPDYE12, SPDYE13, SPDYE14, SPDYE15, SPDYE16, SPDYE17, SPDYE18, SPDYE5, SPDYE7P, SPDYE8, SPDYE9, SRRM3, SSC4D, STX1A, STYXL1, TBL2, TMEM120A, TMEM270, TMEM60, TRIM50, TRIM73, TRIM74, TYW1B, UPK3B, VPS37D, YWHAG, ZP3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr7:71644077-78793387
GRCh38:
Chr7:72179092-79164071
See casesLikely pathogenic
(Jun 4, 2013)
no assertion criteria provided
5.
GRCh37:
Chr7:72766313-76351578
GRCh38:
Chr7:73352304-76722261
See casesPathogenic
(Aug 26, 2013)
no assertion criteria provided
6.
GRCh37:
Chr7:73992744-83618176
GRCh38:
Chr7:73873420-83988860
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr7:73992744-81661058
GRCh38:
Chr7:74377395-82031742
See casesPathogenic
(Feb 4, 2013)
no assertion criteria provided
8.
GRCh38:
Chr7:75058300-79083658
Distal 7q11.23 microdeletion syndromePathogenic
(Mar 12, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr7:75126024-78004892
GRCh38:
Chr7:75496701-78375575
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr7:75155767-76128789
GRCh38:
Chr7:75526437-76499472
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr7:75159180-76240800
GRCh38:
Chr7:75529854-76611483
See casesPathogenic
(Feb 11, 2011)
no assertion criteria provided
12.
GRCh37:
Chr7:75159180-76255878
GRCh38:
Chr7:75529854-76626561
See casesUncertain significance
(Aug 5, 2011)
no assertion criteria provided
13.
GRCh37:
Chr7:75197465-76214077
GRCh38:
Chr7:75568161-76584760
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
14.
GRCh37:
Chr7:3298924-3595745
GRCh38:
Chr7:75769688-76066509
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr7:75544422
GRCh38:
Chr7:75915104
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr7:75544455
GRCh38:
Chr7:75915137
PORnot provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyBenign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:75544456
GRCh38:
Chr7:75915138
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr7:75544469
GRCh38:
Chr7:75915151
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr7:75544497
GRCh38:
Chr7:75915179
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr7:75544497
GRCh38:
Chr7:75915179
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr7:75544497
GRCh38:
Chr7:75915179
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr7:75544505
GRCh38:
Chr7:75915187
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr7:75544506
GRCh38:
Chr7:75915188
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr7:75583324
GRCh38:
Chr7:75954006
PORG2A, G5ACongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr7:75583325
GRCh38:
Chr7:75954007
PORnot provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:75583352
GRCh38:
Chr7:75954034
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Oct 24, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr7:75583353
GRCh38:
Chr7:75954035
PORV12MCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr7:75583355
GRCh38:
Chr7:75954037
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Jun 13, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr7:75583358
GRCh38:
Chr7:75954040
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Mar 14, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr7:75583363
GRCh38:
Chr7:75954045
PORA18V, A15VCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr7:75583364
GRCh38:
Chr7:75954046
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Apr 28, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr7:75583370
GRCh38:
Chr7:75954052
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr7:75583380-75583381
GRCh38:
Chr7:75954062-75954063
PORL22fsCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyPathogenic
(Jan 15, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr7:75583383
GRCh38:
Chr7:75954065
PORL22F, L25Fnot providedUncertain significance
(Oct 4, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr7:75583396
GRCh38:
Chr7:75954078
PORT29M, T26MCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr7:75583397
GRCh38:
Chr7:75954079
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not providedConflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr7:75583406
GRCh38:
Chr7:75954088
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Aug 24, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr7:75583421
GRCh38:
Chr7:75954103
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Feb 3, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr7:75583422
GRCh38:
Chr7:75954104
PORV35MInborn genetic diseases, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:75583434
GRCh38:
Chr7:75954116
PORT39Anot providedUncertain significance
(Aug 6, 2020)
criteria provided, single submitter
41.
GRCh37:
Chr7:75583446
GRCh38:
Chr7:75954128
PORL43F, L46Fnot providedUncertain significance
(Jul 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr7:75583456
GRCh38:
Chr7:75954138
PORK46RCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr7:75583457
GRCh38:
Chr7:75954139
PORK49N, K46NCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr7:75583462-75583464
GRCh38:
Chr7:75954144-75954146
PORE50delCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Nov 1, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr7:75583468
GRCh38:
Chr7:75954150
PORE50VCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr7:75583469
GRCh38:
Chr7:75954151
PORE50DCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr7:75583475
GRCh38:
Chr7:75954157
PORnot providedLikely benign
(Mar 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr7:75583476
GRCh38:
Chr7:75954158
PORE53Knot provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:75583479
GRCh38:
Chr7:75954161
PORF54LCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr7:75583481
GRCh38:
Chr7:75954163
PORF54Lnot provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:75583482
GRCh38:
Chr7:75954164
PORT55ACongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Oct 7, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr7:75583500
GRCh38:
Chr7:75954182
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely pathogenic
(Oct 20, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr7:75583691
GRCh38:
Chr7:75954373
PORnot providedBenign
(Jun 26, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr7:75583771
GRCh38:
Chr7:75954453
PORnot providedBenign
(Sep 22, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr7:75601721
GRCh38:
Chr7:75972403
PORnot provided, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyConflicting interpretations of pathogenicity
(Jul 6, 2021)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr7:75601733
GRCh38:
Chr7:75972415
PORT61I, T79ICongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr7:75601737
GRCh38:
Chr7:75972419
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Jul 25, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr7:75601756
GRCh38:
Chr7:75972438
PORF69L, F87LAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Uncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr7:75601758
GRCh38:
Chr7:75972440
PORF87L, F69L, F72LCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Dec 12, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr7:75601777
GRCh38:
Chr7:75972459
PORT76A, T94ACongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr7:75601867
GRCh38:
Chr7:75972549
PORnot providedBenign
(Jul 17, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr7:75608674
GRCh38:
Chr7:75979356
PORnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
63.
GRCh37:
Chr7:75608750
GRCh38:
Chr7:75979432
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr7:75608752
GRCh38:
Chr7:75979434
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Sep 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr7:75608759
GRCh38:
Chr7:75979441
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Oct 17, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr7:75608760
GRCh38:
Chr7:75979442
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Oct 7, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr7:75608760
GRCh38:
Chr7:75979442
PORnot providedLikely benign
(Jun 28, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr7:75608764
GRCh38:
Chr7:75979446
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr7:75608766
GRCh38:
Chr7:75979448
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr7:75608777
GRCh38:
Chr7:75979459
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Jan 21, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr7:75608783
GRCh38:
Chr7:75979465
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr7:75608791
GRCh38:
Chr7:75979473
PORY102C, Y84CCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Sep 4, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr7:75608803
GRCh38:
Chr7:75979485
PORT106M, T91M, T88MCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr7:75608810
GRCh38:
Chr7:75979492
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Mar 26, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr7:75608825
GRCh38:
Chr7:75979507
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr7:75608835
GRCh38:
Chr7:75979517
PORS117P, S99P, S102PCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr7:75608841
GRCh38:
Chr7:75979523
PORD101N, D119NCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr7:75608843
GRCh38:
Chr7:75979525
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Oct 27, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr7:75608844
GRCh38:
Chr7:75979526
PORA102T, A105T, A120TCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr7:75608848
GRCh38:
Chr7:75979530
PORH103R, H121RCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not providedConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr7:75608850
GRCh38:
Chr7:75979532
PORR104C, R107C, R122CCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr7:75608851
GRCh38:
Chr7:75979533
PORR104H, R122HAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Uncertain significance
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr7:75608855
GRCh38:
Chr7:75979537
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyConflicting interpretations of pathogenicity
(Mar 20, 2022)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr7:75608856
GRCh38:
Chr7:75979538
PORG106R, G124RCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr7:75608863
GRCh38:
Chr7:75979545
PORR108Q, R111Q, R126QCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(May 5, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr7:75608871
GRCh38:
Chr7:75979553
PORS111P, S129Pnot providedUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr7:75608875
GRCh38:
Chr7:75979557
PORA112V, A130Vnot specified, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Mar 16, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr7:75608889
GRCh38:
Chr7:75979571
PORY117H, Y135Hnot providedUncertain significance
(Sep 3, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr7:75608910
GRCh38:
Chr7:75979592
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Oct 23, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr7:75608911
GRCh38:
Chr7:75979593
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyConflicting interpretations of pathogenicity
(Mar 13, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr7:75608913
GRCh38:
Chr7:75979595
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Feb 12, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr7:75608913
GRCh38:
Chr7:75979595
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Apr 26, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr7:75608986
GRCh38:
Chr7:75979668
PORnot providedBenign
(Jun 26, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr7:75608995
GRCh38:
Chr7:75979677
PORnot providedLikely benign
(Oct 5, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr7:75609106
GRCh38:
Chr7:75979788
PORnot providedLikely benign
(Dec 31, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr7:75609143
GRCh38:
Chr7:75979825
PORnot providedLikely benign
(Jul 30, 2019)
criteria provided, single submitter
97.
GRCh37:
Chr7:75609645-75609650
GRCh38:
Chr7:75980327-75980332
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr7:75609652
GRCh38:
Chr7:75980334
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyLikely benign
(Aug 2, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr7:75609659
GRCh38:
Chr7:75980341
PORCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, not providedConflicting interpretations of pathogenicity
(Oct 18, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr7:75609668
GRCh38:
Chr7:75980350
PORS123R, S141RCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Nov 16, 2021)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination