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Items: 62

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Jan 1, 2001)
no assertion criteria provided
2.
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Jan 1, 1993)
no assertion criteria provided
3.
GRCh37:
Chr7:12258147-140494267
ACHE, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK6, CFTR, CHN2, CHRM2, AP1S1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EPHB4, EPO, ERV3-1, ETV1, EVX1, FLNC, GARS, NIPSNAP2, GCK, GHRHR, GLI3, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HUS1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, IRF5, ITGB8, KCND2, LAMB1, LEP, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, MUC3A, NDUFA5, NDUFB2, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR2B, RELN, PSMA2, PSMC2, PSPH, PTN, PTPN12, PTPRZ1, PURB, RALA, RFC2, RNU2-1, RP9, CCL24, SFRP4, SLC13A1, SMO, SP4, SPAM1, SRI, AKR1D1, SRPK2, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, ZAN, EIF4H, CLIP2, LAT2, WNT2, YWHAG, ZNF3, ZKSCAN1, ZSCAN21, ZNF138, ZP3, MTERF1, SEM1, TFPI2, ST7, TRRAP, FZD1, FZD9, TPST1, FKBP6, CDK13, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, BCL7B, ATP6V1F, PMPCB, ATP5MF, GTF2IRD1, CREB5, NFE2L3, SEMA3E, DOCK4, HDAC9, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, DMTF1, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, DBF4, COPS6, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, KLHDC10, HECW1, AVL9, PEG10, NACAD, SNX13, NUP205, COBL, DPY19L1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, AUTS2, TES, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, SND1, VPS41, TSPAN13, DENND2A, BBS9, CRCP, RABGEF1, POLM, PCLO, BZW2, DBNL, WDR91, NPC1L1, SNX10, TRA2A, HILPDA, MDFIC, PILRA, FSCN3, ERVW-1, ATP6V0A4, PNPLA8, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, ZNF107, ZC3HC1, SRRT, UBE2D4, LUC7L2, STYXL1, ASB4, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, ANLN, ANKIB1, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ALKBH4, SAMD9, CHCHD3, FKBP14, ZCWPW1, TMEM248, RBM28, TYW1, C7orf43, TMEM140, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, COA1, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, ANKRD7, ZC3HAV1, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, RHBDD2, STRIP2, CCDC146, KIAA1549, GATAD1, NFE4, MYL7, EXOC4, RINT1, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, GALNT17, TMEM168, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, C7orf49, GGCT, C7orf25, ZNF655, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, SUGCT, CFAP69, CBLL1, CPED1, TTC26, C7orf69, ORAI2, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, GTF2IRD2, MINDY4, SLC37A3, DNAJC30, FAM126A, FAM71F1, PLEKHA8, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, DTX2, BUD23, TSGA13, MALSU1, TMEM270, TRIM50, COL26A1, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, METTL27, VPS37D, AGR3, ZNF92, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, BHLHA15, BMPER, ZNF800, ABHD11-AS1, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, STEAP2, POM121L12, C7orf71, SPDYE1, SNHG15, ZNF789, LSMEM1, MESTIT1, ST7-OT4, ZNF680, ABCB5, FAM221A, TSPAN33, AGBL3, SEPT14, MACC1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, GJC3, GATS, GPR141, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, AGMO, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, ZNF727, SPDYE5, LMOD2, MIR335, MIR196B, TARP, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, WIPF3, STMP1, NCF1, SNORA5C, MIR590, ZNF736, CASTOR2, SPDYE6, ISPD, TMEM229A, ZNF735, LUZP6, POM121C, HECW1-IT1, SPATA48, UPK3BL1, RASA4B, SMKR1, SPDYE2B, HOTTIP, SAP25, LINC00972, LRRC72, HOTAIRM1, ATP5MF-PTCD1, KLHL7-AS1, C7orf55-LUC7L2, ZASP, LOC101928861
Pleomorphic xanthoastrocytomaPathogenicno assertion criteria provided
4.
GRCh37:
Chr7:74191610
GRCh38:
Chr7:74777264
NCF1not specifiedUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr7:74191615-74191616
GRCh38:
Chr7:74777269-74777270
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Aug 9, 2012)
no assertion criteria provided
6.
GRCh37:
Chr7:74191665
GRCh38:
Chr7:74777319
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Jul 1, 2001)
no assertion criteria provided
7.
GRCh37:
Chr7:74191707
GRCh38:
Chr7:74777361
NCF1not specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr7:74193460
GRCh38:
Chr7:74779114
NCF1not providedPathogenic
(Jun 15, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr7:74193644
GRCh38:
Chr7:74779298
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Dec 1, 2006)
no assertion criteria provided
10.
GRCh37:
Chr7:74193668
GRCh38:
Chr7:74779322
NCF1not specifiedBenign
(Mar 28, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr7:74193706
GRCh38:
Chr7:74779360
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Dec 1, 2006)
no assertion criteria provided
12.
GRCh37:
Chr7:74197404
GRCh38:
Chr7:74783061
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Dec 1, 2006)
no assertion criteria provided
13.
GRCh37:
Chr7:74197872
GRCh38:
Chr7:74783529
NCF1not providedPathogenic
(Oct 31, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr7:74203683
GRCh38:
Chr7:74789339
NCF1Familial hypertrophic cardiomyopathy 4Pathogenic
(Apr 27, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr7:72718277-74287433
See casesPathogenic
(Dec 22, 2014)
no assertion criteria provided
16.
GRCh37:
Chr7:43361-159119707
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, ISPD, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-AS1, C7orf55-LUC7L2, ZASP, LOC101928861
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
17.
GRCh37:
Chr7:43361-159119707
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, ISPD, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-AS1, C7orf55-LUC7L2, ZASP, LOC101928861
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
18.
GRCh37:
Chr7:72577021-74197846
See casesPathogenic
(Feb 5, 2015)
no assertion criteria provided
19.
GRCh37:
Chr7:72536980-74629034
See casesPathogenic
(Mar 31, 2015)
no assertion criteria provided
20.
GRCh37:
Chr7:72456604-76007380
See casesPathogenic
(Nov 3, 2014)
no assertion criteria provided
21.
GRCh37:
Chr7:72718277-74259899
See casesPathogenic
(Dec 22, 2014)
no assertion criteria provided
22.
GRCh37:
Chr7:43360-159119707
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNU2-1, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TMEM176B, BZW2, DBNL, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, IQUB, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, ZNF92, GALNTL5, ZNF679, RNF133, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, DAGLB, CCZ1B, THSD7A, VSTM2A, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, CNPY1, C7orf71, SPDYE1, SNHG15, TCAF2, ZNF775, ATG9B, ZNF789, LSMEM1, MESTIT1, ST7-OT4, TAS2R60, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, WDR86, GJC3, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, RNF148, NPSR1, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, OR2A25, ELFN1, AGMO, GRID2IP, OR2A5, C7orf65, LRRD1, C7orf76, PRRT4, RAB19, OR2A7, OR2A42, KPNA7, C7orf61, UFSP1, NPSR1-AS1, MIR106B, MIR148A, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, ZNF716, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, ZNF727, OR2A2, SPDYE5, LMOD2, MIR335, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, CYP51A1-AS1, ZNF862, WIPF3, STMP1, NCF1, ACTR3C, OCM, SNORA5C, MIR590, RSPH10B2, ZNF736, CASTOR2, SPDYE6, ISPD, TMEM229A, ZNF735, LUZP6, MIR671, POM121C, HECW1-IT1, CTAGE4, SPATA48, ZNF316, LOC100134040, UPK3BL1, CTAGE8, RASA4B, SMKR1, ZNF783, SPDYE2B, HOTTIP, SAP25, MTRNR2L6, LINC00972, LRRC72, HOTAIRM1, TMEM178B, ATP5MF-PTCD1, RBAK-RBAKDN, KLHL7-AS1, C7orf55-LUC7L2, ZASP, LOC101928861
See casesPathogenicno assertion criteria provided
23.
GRCh37:
Chr7:72472922-74259176
See casesPathogenicno assertion criteria provided
24.
GRCh37:
Chr7:72722981-74217390
See casesPathogenic
(Jul 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr7:72708237-74339044
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr7:73591993-75914797
See casesLikely pathogenic
(Jan 20, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr7:72766313-74339044
GRCh38:
Chr7:73352304-74924037
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr7:71644077-78793387
GRCh38:
Chr7:72179092-79164071
See casesLikely pathogenic
(Jun 4, 2013)
no assertion criteria provided
29.
GRCh37:
Chr7:72766313-74481540
GRCh38:
Chr7:73352304-75065728
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
30.
GRCh37:
Chr7:62196742-75061986
GRCh38:
Chr7:62736364-75432710
See casesPathogenic
(Aug 5, 2011)
no assertion criteria provided
31.
GRCh37:
Chr7:72637824-74203685
GRCh38:
Chr7:73280574-74789341
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
32.
GRCh37:
Chr7:73992744-81661058
GRCh38:
Chr7:74377395-82031742
See casesPathogenic
(Feb 4, 2013)
no assertion criteria provided
33.
GRCh37:
Chr7:62437463-75044630
GRCh38:
Chr7:62977085-75415352
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
34.
GRCh37:
Chr7:73467756-74485767
GRCh38:
Chr7:74053426-75069953
See casesLikely benign
(Sep 9, 2013)
no assertion criteria provided
35.
GRCh37:
Chr7:72606409-74300084
GRCh38:
Chr7:73192369-74883978
See casesPathogenic
(Jan 25, 2013)
no assertion criteria provided
36.
GRCh37:
Chr7:72700414-74193403
GRCh38:
Chr7:73286412-74779057
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
37.
GRCh37:
Chr7:72700414-74285345
GRCh38:
Chr7:73286412-74869255
See casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
38.
GRCh37:
Chr7:72606409-74285345
GRCh38:
Chr7:73192369-74869255
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
39.
GRCh37:
Chr7:72663962-74193403
GRCh38:
Chr7:73280574-74779057
See casesPathogenic
(Jul 16, 2012)
no assertion criteria provided
40.
GRCh37:
Chr7:72606409-74193403
GRCh38:
Chr7:73192369-74779057
See casesPathogenic
(Nov 26, 2012)
no assertion criteria provided
41.
GRCh37:
Chr7:72606409-74193403
GRCh38:
Chr7:73192369-74779057
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
42.
GRCh37:
Chr7:553309-2494009
GRCh38:
Chr7:73040501-75255046
See casesPathogenic
(Aug 29, 2011)
no assertion criteria provided
43.
GRCh37:
Chr7:1576888-2107649
GRCh38:
Chr7:74047652-74924037
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
44.
GRCh37:
Chr7:72636006-74339014
GRCh38:
Chr7:73280574-74924007
See casesPathogenic
(Mar 8, 2011)
no assertion criteria provided
45.
GRCh37:
Chr7:72408602-74193374
GRCh38:
Chr7:72938064-74779028
See casesPathogenic
(Mar 8, 2011)
no assertion criteria provided
46.
GRCh37:
Chr7:72766312-74339030
GRCh38:
Chr7:73352303-74924023
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
47.
GRCh37:
Chr7:72766312-74193397
GRCh38:
Chr7:73352303-74779051
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
48.
GRCh37:
Chr7:74285295-76351578
GRCh38:
Chr7:73040501-75255046
See casesUncertain significance
(May 6, 2011)
no assertion criteria provided
49.
GRCh37:
Chr7:54185-159075079
GRCh38:
Chr7:54185-159282390
AOC1, ACHE, ACTB, ADCY1, ADCYAP1R1, AEBP1, AHR, AKR1B1, AMPH, AOAH, AQP1, ARF5, ASL, ASNS, AZGP1, OPN1SW, BLVRA, BPGM, BRAF, CACNA2D1, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CASP2, CAV1, CAV2, KRIT1, CCT6A, CD36, SEPT7, CDK5, CDK6, CFTR, CHN2, CHRM2, AP1S1, CLCN1, COL1A2, CPA1, CPA2, CLDN4, CLDN3, CRHR2, CUX1, CYP3A7, CYP3A4, CYP3A5, CYP51A1, DGKB, DDC, GSDME, DLD, DLX5, DLX6, DYNC1I1, DPP6, SLC26A3, EGFR, ELN, EN2, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ETV1, EVX1, EZH2, FLNC, GARS, NIPSNAP2, GBX1, GCK, GHRHR, GLI3, GNA12, GNAI1, GNB2, GNG11, GNGT1, GPR22, GPER1, GPR37, GRB10, GRM3, GRM8, GTF2I, GUSB, HGF, HIP1, MNX1, HNRNPA2B1, HOXA1, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA10, HOXA11, HOXA13, HPVC1, AGFG2, HSPB1, HTR5A, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IL6, IMPDH1, INHBA, INSIG1, IRF5, ITGB8, KCND2, KCNH2, KEL, LAMB1, LEP, LFNG, LIMK1, LRCH4, MCM7, DNAJB9, MDH2, MEOX2, MEST, MET, MKLN1, NUDT1, MUC3A, NDUFA4, NDUFA5, NDUFB2, NOS3, CNOT4, NPY, NPTX2, NRCAM, NRF1, OCM2, OGDH, ORC5, SERPINE1, PAX4, PCOLCE, PDE1C, PDGFA, PDK4, SLC26A4, PEX1, CDK14, PGAM2, ABCB1, ABCB4, PHKG1, PIK3CG, PIP, PMS2, PODXL, POLD2, POLR2J, PON1, PON2, PON3, POR, PPIA, PPP1R3A, PRKAR1B, PRKAR2B, PRSS1, PRSS2, RELN, PSMA2, PSMC2, PSPH, TAS2R38, PTN, PTPN12, PTPRN2, PTPRZ1, PURB, RAC1, RALA, RARRES2, RFC2, RHEB, RNY1, RNY3, RNY4, RNY5, RP9, RPA3, CCL24, SFRP4, SHH, SLC4A2, SLC13A1, SMARCD3, SMO, FSCN1, SP4, SPAM1, SRI, AKR1D1, SRPK2, SSBP1, STX1A, SYPL1, TAC1, TAF6, TBXAS1, TRB, TRG, TRGC1, TRGC2, TRGJ1, TRGJ2, TRGJP, TRGJP1, TRGJP2, TRGV2, TRGV3, TRGV4, TRGV5, TRGV8, TRGV9, TFR2, TRIP6, TWIST1, UBE2H, UPP1, VGF, VIPR2, ZAN, EIF4H, CLIP2, LAT2, WNT2, XRCC2, YWHAG, ZNF3, ZNF12, ZKSCAN1, ZSCAN21, ZNF138, ZP3, ZYX, AIMP2, MAFK, MTERF1, SEM1, TFPI2, ST7, ARHGEF5, ZNF212, TRRAP, FZD1, FZD9, MAD1L1, ZNF282, CUL1, TPST1, FKBP6, CDK13, EIF3B, DNAH11, TRIM24, TAX1BP1, BUD31, SGCE, SKAP2, MGAM, WASL, PLOD3, BAZ1B, CLDN12, DGKI, AP4M1, TBRG4, STK17A, CYTH3, BCL7B, ATP6V1F, ASIC3, PMPCB, ATP5MF, GTF2IRD1, CREB5, PDIA4, NFE2L3, PHF14, UBE3C, FAM131B, SEMA3E, DOCK4, HDAC9, TCAF1, RAPGEF5, SCRN1, KIAA0087, ELMO1, MAGI2, TRIL, POM121, AP5Z1, DMTF1, DNAJB6, ABCF2, MUC12, ARPC1B, ARL4A, NAMPT, AKAP9, RASA4, AASS, SLC25A13, LRRC17, POP7, RAMP3, BET1, IKZF1, CCL26, SEMA3A, NOD1, FAM3C, GPNMB, COG5, ZNHIT1, SEMA3C, AGR2, ARPC1A, SH2B2, IGF2BP3, YKT6, STAG3, ZNF273, PPP1R17, FGL2, CPSF4, FASTK, DBF4, COPS6, KDELR2, ADAP1, ZPBP, DUS4L, NUPL2, HIBADH, ZNF277, INMT, ABCB8, TP53TG1, POU6F2, FKBP9, PDAP1, CBX3, TFEC, LAMB4, LMTK2, POMZP3, PAXIP1, KLHDC10, HECW1, AVL9, PEG10, SSPO, NACAD, SNX13, NUP205, COBL, IQCE, DPY19L1, SUN1, KIAA0895, AHCYL2, NUDCD3, SEC61G, TNPO3, HYAL4, TSPAN12, CLEC5A, MKRN1, LSM5, ZKSCAN5, CLDN15, BRI3, TECPR1, SUMF2, POT1, SOSTDC1, KBTBD2, PTCD1, OSBPL3, CNTNAP2, AUTS2, WIPI2, TES, GIMAP2, INTS1, OR2F1, FBXO24, SLC13A4, TBL2, STEAP1, COPG2, HBP1, DNAJC2, TPK1, SND1, VPS41, TSPAN13, SND1-IT1, EIF2AK1, DENND2A, ZNF777, BBS9, CRCP, RABGEF1, POLM, PCLO, TRBV30, TRBV29-1, TRBV28, TRBV27, TRBV25-1, TRBV24-1, TRBV20-1, TRBV19, TRBV18, TRBV17, TRBV15, TRBV14, TRBV13, TRBV12-5, TRBV12-4, TRBV12-3, TRBV11-3, TRBV11-2, TRBV11-1, TRBV10-3, TRBV10-2, TRBV10-1, TRBV9, TRBV7-9, TRBV7-7, TRBV7-6, TRBV7-4, TRBV7-3, TRBV7-2, TRBV6-8, TRBV6-6, TRBV6-5, TRBV6-4, TRBV6-2, TRBV6-1, TRBV5-7, TRBV5-6, TRBV5-5, TRBV5-4, TRBV5-1, TRBV4-2, TRBV4-1, TRBV3-1, TRBV2, TRBJ2-7, TRBJ2-6, TRBJ2-5, TRBJ2-4, TRBJ2-3, TRBJ2-2, TRBJ2-1, TRBJ1-6, TRBJ1-5, TRBJ1-4, TRBJ1-3, TRBJ1-2, TRBJ1-1, TRBD2, TRBD1, TRBC2, TRBC1, TMEM176B, BZW2, DBNL, HIPK2, WDR91, REPIN1, NPC1L1, SNX8, SNX10, TRA2A, HILPDA, MRM2, MDFIC, PILRB, PILRA, FSCN3, NXPH1, ERVW-1, ATP6V0A4, PNPLA8, TAS2R3, TAS2R4, TAS2R16, FIS1, MLXIPL, SBDS, CHCHD2, CPA4, NT5C3A, NME8, ZNF117, MRPS17, WNT16, ACTL6B, PRKAG2, ZNF107, ZC3HC1, SRRT, GET4, UBE2D4, CCZ1, LUC7L2, MRPS33, STYXL1, ASB4, NUB1, MPP6, LSM8, ADAM22, COPG2IT1, GSAP, CYCS, GPR85, TAS2R5, ANLN, ANKIB1, MIOS, RNF216, CHPF2, CPVL, PUS7, TOMM7, ING3, DDX56, TMEM106B, LRRN3, CROT, EPDR1, ZNF853, ALKBH4, SAMD9, NCAPG2, CYP2W1, DNAAF5, CHCHD3, FKBP14, ZCWPW1, TMEM248, WDR60, RBM28, ZDHHC4, TYW1, C7orf43, TMEM140, GIMAP4, GIMAP5, TMEM176A, CHST12, TRPV6, CDCA7L, PPP1R9A, VPS50, URGCP, NSUN5, RADIL, COA1, AGK, METTL2B, KMT2E, LANCL2, BAIAP2L1, SLC25A40, BCAP29, KLHL7, STK31, MEPCE, TRPV5, ANKRD7, ZC3HAV1, PAPOLB, C1GALT1, FAM20C, SLC12A9, SDHAF3, YAE1D1, AKR1B10, ANKMY2, TBX20, SMURF1, PHTF2, ACTR3B, KIAA1147, RHBDD2, STRIP2, ESYT2, ZNF398, CCDC146, KIAA1549, RBAK, GATAD1, NFE4, MYL7, KMT2C, EXOC4, RINT1, GALNT11, NEUROD6, FIGNL1, MYO1G, LRRC4, NPVF, HERPUD2, LMBR1, GALNT17, TMEM168, LINC00244, NOM1, MOSPD3, GIGYF1, CCDC136, TNS3, PARP12, CREB3L2, IFT22, CYP3A43, CASD1, MRPS24, MRPL32, LRRC61, C7orf49, GGCT, C7orf25, ZNF655, C7orf26, PVRIG, TMEM243, GCC1, STEAP4, GAL3ST4, PRKRIP1, MICALL2, SUGCT, CFAP69, CBLL1, CPED1, TTC26, FBXL18, C7orf69, ORAI2, TTYH3, EEPD1, KDM7A, OR2AE1, VOPP1, RCC1L, TSC22D4, TRIM56, ABHD11, TMUB1, CCM2, ZMIZ2, CALN1, ARMC10, TMEM120A, STARD3NL, IMMP2L, CTTNBP2, RBM48, ZNF394, USP42, GTF2IRD2, MINDY4, SLC37A3, PSMG3, DNAJC30, C7orf50, CARD11, KRBA1, TNRC18, FAM126A, FAM71F1, PLEKHA8, FAM220A, LINC00525, MGC16142, SLC35B4, TMEM209, TMEM60, SCIN, GTPBP10, TRIM4, ZFAND2A, COX19, CCDC126, ZNF479, ADCK2, PLXNA4, ZC3HAV1L, MYL10, MGAM2, ST7-AS1, ST7-AS2, ST7-OT3, CADPS2, CPA5, FOXP2, H2AFV, CEP41, GLCCI1, ZBED6CL, DTX2, BUD23, PSMG3-AS1, TSGA13, GPR146, MALSU1, AGAP3, C7orf13, OR9A4, TMEM270, TRIM50, OR9A2, LLCFC1, TMEM139, NOBOX, OR2A14, OR6B1, OR2F2, ZNF786, COL26A1, PRSS37, KLF14, SSMEM1, C7orf57, SVOPL, MTPN, LRGUK, ASB10, PRSS58, MPLKIP, SSC4D, C7orf31, ASZ1, MUC17, RNF32, ASB15, RUNDC3B, ABCA13, BMT2, CLEC2L, FMC1, VKORC1L1, LINC00689, FEZF1-AS1, IQUB, C7orf77, KCTD7, C7orf66, TMEM213, GIMAP8, CRYGN, ZNF425, ZNF746, ATP6V0E2, AMZ1, METTL27, VPS37D, RBM33, AGR3, MGC27345, ZNF92, GALNTL5, ZNF679, RNF133, CDC14C, THAP5, CCDC71L, PKD1L1, GIMAP7, ZNF467, BHLHA15, BMPER, ZNF800, GIMAP1, ABHD11-AS1, PAXIP1-AS1, C7orf33, TMEM184A, SAMD9L, TEX47, ZNF804B, ZSCAN25, FAM200A, VWDE, PRPS1L1, TWISTNB, SP8, HOXA11-AS, JAZF1, PPP1R35, GPC2, BRAT1, SDK1, FOXK1, MMD2, LOC221946, DAGLB, CCZ1B, THSD7A, VSTM2A, DKFZp434L192, TMED4, MTURN, PRR15, SRRM3, RSBN1L, KIAA1324L, LRWD1, FAM185A, FBXL13, NAPEPLD, ATXN7L1, CDHR3, TMEM130, FERD3L, NYAP1, SLC29A4, RSPH10B, CCDC129, ZNRF2, SEMA3D, CNPY4, POLR2J2, HEPACAM2, UBN2, LINC00957, MBLAC1, TMEM196, STEAP1B, SUN3, FAM133B, TAS2R39, TAS2R40, TAS2R41, STEAP2, POM121L12, VSTM2A-OT1, CNPY1, LOC285889, LINC00174, C7orf71, HOXA-AS2, INHBA-AS1, SPDYE1, SNHG15, WEE2-AS1, EPHA1-AS1, TCAF2, ZNF775, LINC00996, ATG9B, DLX6-AS1, ZNF789, SLC26A4-AS1, LSMEM1, FLJ40288, MESTIT1, ST7-OT4, TAS2R60, BLACE, ZNF680, UNCX, COL28A1, ABCB5, FAM221A, CTAGE6, TSPAN33, AGBL3, SEPT14, MACC1, OR6V1, OR2A12, OR2A1, GNAT3, MOGAT3, FAM71F2, STRA8, KLRG2, ZNF713, LINC00265, WDR86, GJC3, LOC349160, GATS, GPR141, GSTK1, VWC2, TRIM73, NAT16, SLC26A5, LHFPL3, KCP, TRIM74, LINC-PINT, RNF148, NPSR1, RBAKDN, NUPR2, GTF2IRD2B, LAMTOR4, FEZF1, FAM180A, LOC389602, OR10AC1, OR2A25, ELFN1, AGMO, IQCA1L, GRID2IP, OR2A5, LOC401312, LOC401320, LINC00997, LOC401324, C7orf65, LINC01446, LOC401357, LRRD1, C7orf76, SMIM30, POT1-AS1, PRRT4, RAB19, OR2A7, ATP6V0E2-AS1, OR2A42, LINC01000, KPNA7, C7orf61, GRIFIN, UFSP1, NPSR1-AS1, MIR106B, MIR129-1, MIR148A, MIR153-2, MIR182, MIR183, MIR25, MIR29A, MIR29B1, MIR93, MIR96, LOC441204, ZNF716, LOC441242, TYW1B, SPDYE3, SPDYE2, AKR1B15, CTAGE15, HRAT92, ZNF727, OR2A2, LOC442497, SPDYE5, LMOD2, MIR335, MIR339, MIR196B, ARHGEF35, TARP, GIMAP6, WEE2, LOC541472, POLR2J3, MIR489, MIR490, CYP51A1-AS1, ZNF862, LOC644090, WIPF3, LOC644794, MNX1-AS1, LHFPL3-AS1, LOC646762, STMP1, NCF1, ACTR3C, OCM, SNORA5A, SNORA5B, SNORA5C, SNORA9, SNORA14A, SNORA15, SNORA22, SNORD93, MIR550A1, MIR550A2, MIR589, MIR590, MIR591, MIR592, MIR593, MIR595, LHFPL3-AS2, MIR653, RSPH10B2, ZNF736, CASTOR2, SPDYE6, UMAD1, ISPD, TMEM229A, LOC730234, ZNF735, LOC730338, LUZP6, MIR671, TSL, POM121C, HECW1-IT1, JAZF1-AS1, HTR5A-AS1, LOC100128317, LOC100128325, LOC100128364, CTAGE4, LOC100128653, LINC01003, LOC100128885, LOC100129148, DDC-AS1, LOC100129484, LOC100129603, PCOLCE-AS1, LOC100130705, EFCAB10, LOC100130880, SPATA48, ZNF316, WDR86-AS1, LOC100131472, PAXIP1-AS2, LOC100133091, HOXA-AS3, LOC100134040, JHDM1D-AS1, NDUFB2-AS1, UPK3BL1, CTAGE8, TRC-GCA11-1, TRC-GCA22-1, TRC-GCA18-1, TRC-GCA12-1, TRC-GCA3-1, TRC-GCA1-1, TRC-GCA16-1, TRC-GCA19-1, TRW-CCA5-1, TRC-GCA23-1, TRC-GCA15-1, TRP-AGG2-3, TRC-GCA17-1, TRC-GCA10-1, TRC-GCA20-1, TRC-GCA13-1,