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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
LORVohwinkel syndrome, variant formPathogenic
(Mar 1, 2000)
no assertion criteria provided
2.
LORVohwinkel syndrome, variant formPathogenic
(Oct 1, 2001)
no assertion criteria provided
3.
GRCh37:
Chr1:153234109
GRCh38:
Chr1:153261633
LORnot providedPathogenic
(Aug 30, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ADAR, ALDH9A1, APCS, APOA2, FASLG, ARNT, ASTN1, SERPINC1, ATP1A2, ATP1A4, ATP1B1, BGLAP, CASQ1, CD1A, CD1B, CD1C, CD1D, CD1E, CD247, CD5L, CD48, CHRNB2, CKS1B, CLK2, COPA, CRABP2, CRP, CTSK, CTSS, DPT, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ETV3, F5, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FDPS, FLG, FMO1, FMO2, FMO3, FMO4, ACKR1, GBA, HDGF, HSPA6, HSPA7, IFI16, IL6R, ILF2, INSRR, IVL, KCNJ9, KCNJ10, KCNN3, LMNA, LMX1A, LOR, LY9, MCL1, SMCP, MEF2D, MGST3, MNDA, MPZ, MTX1, MUC1, MYOC, NDUFS2, NHLH1, NIT1, NPR1, NTRK1, DDR2, PBX1, PFDN2, PIGC, PI4KB, PKLR, PRRX1, POU2F1, PPOX, PRCC, PSMB4, PSMD4, QSOX1, PEX19, RAB13, RFX5, RGS4, RIT1, RORC, RPS27, RXRG, S100A1, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A8, S100A9, S100A10, S100A11, S100A12, S100A13, XCL1, SDHC, SELE, SELL, SELP, SHC1, SLAMF1, SOAT1, UAP1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2C, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPTA1, SSR2, XCL2, VPS72, THBS3, TCHH, TNR, TPM3, CCT3, TUFT1, TNFSF4, UCK2, USF1, DAP3, NPHS2, HIST2H2AC, HIST2H2BE, PIP5K1A, TAGLN2, ANXA9, RGS5, BLZF1, VAMP4, PEA15, B4GALT3, ADAM15, CREG1, CD84, SELENBP1, TNFSF18, MPZL1, SH2D2A, ANGPTL1, TBX19, FCGR2C, PRPF3, ARHGEF2, DEDD, GPR52, AIM2, RASAL2, ADAMTS4, PRDX6, SLC25A44, KIAA0040, NOS1AP, ARHGEF11, CEP350, SETDB1, UBAP2L, SV2A, DENND4B, RABGAP1L, FAM20B, NR1I3, SCAMP3, GPA33, SF3B4, HAX1, C1orf61, SEMA6C, SLC19A2, PMVK, FAM189B, NES, JTB, MTMR11, MLLT11, SLC27A3, TDRKH, CELF3, PMF1, DUSP12, VPS45, KIAA0907, KIFAP3, ATF6, POGZ, SYT11, PRRC2C, RPRD2, SMG5, NCSTN, GPR161, SNAPIN, RUSC1, CA14, CFAP45, MPC2, OLFML2B, C1orf43, DNM3, TOR1AIP1, CHTOP, LCE2B, OR10J1, SNORD81, SNORD79, SNORD80, SNORD47, SNORD44, USP21, CACYBP, SLC39A1, KLHL20, LAMTOR2, TMOD4, NME7, CERS2, CRNN, DCAF8, F11R, BOLA1, ZBTB7B, RRNAD1, APH1A, PLEKHO1, SUCO, HSD17B7, UFC1, METTL13, OAZ3, CD244, DPM3, MRPS21, TMCO1, ADAMTSL4, CRCT1, GON4L, GPATCH4, DUSP23, C1orf56, RALGPS2, MSTO1, DARS2, GOLPH3L, KIRREL, YY1AP1, UBE2Q1, ITLN1, C1orf112, FAM63A, ADCY10, DCAF6, ASH1L, LENEP, SLC50A1, SLAMF8, CDC42SE1, UBQLN4, OTUD7B, RAB25, PGLYRP4, RHBG, SCYL3, ATP8B2, VANGL2, PBXIP1, S100A14, GATAD2B, CGN, IGSF9, ZNF687, POGK, HCN3, BRINP2, CCDC181, SLAMF7, CADM3, PRUNE1, HAPLN2, GAS5, PAPPA2, BCAN, TNN, MRPS14, SEMA4A, TOR3A, RFWD2, MRPL9, INTS3, SCNM1, LINC00626, FCRL2, MRPL24, TNFAIP8L2, C1orf54, PAQR6, TRIM46, MROH9, TARS2, FLAD1, OR6N2, OR6K2, NECTIN4, SNX27, ANP32E, ISG20L2, FCRL5, FCRL4, NUF2, TEX35, HORMAD1, TOMM40L, TMEM79, ZBTB37, LCE3D, FCRLA, MAEL, SEC16B, AQP10, LHX4, SLAMF9, PYGO2, NUP210L, CENPL, DUSP27, RCSD1, MEX3A, METTL18, GORAB, C1orf105, PIGM, IGSF8, GLMP, PGLYRP3, SLAMF6, FCRL1, FCRL3, TADA1, THEM4, SH2D1B, GABPB2, TCHHL1, RPTN, TDRD10, SHE, KLHDC9, AXDND1, OR10J5, DCST2, UHMK1, FCRLB, TSACC, IQGAP3, NAXE, OR10T2, OR6P1, OR10X1, OR10Z1, OR6K6, OR6N1, S100A16, ITLN2, CREB3L4, CIART, FAM163A, LELP1, RC3H1, DCST1, METTL11B, FAM78B, BNIPL, LRRC71, PYHIN1, TDRD5, TOR1AIP2, SPRR4, TTC24, LCE4A, FLJ23867, KRTCAP2, CRTC2, LCE5A, ARHGAP30, CFAP126, TIPRL, RIIAD1, THEM5, SLC9C2, RUSC1-AS1, C1orf204, SPATA46, LINC01142, HIST2H2AB, S100A7A, LINGO4, FLG-AS1, RXFP4, ANKRD45, CCDC190, OR10R2, FCRL6, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3E, PEAR1, SFT2D2, ILDR2, LYSMD1, HRNR, FLG2, LINC00302, C1orf189, VHLL, OR10K2, OR10K1, OR6Y1, OR6K3, OR10J4, VSIG8, C1orf226, LOC400794, CLEC20A, C1orf220, MIR199A2, MIR214, MIR9-1, ETV3L, LRRC52, OR10J3, KPRP, LCE6A, HIST2H4B, ADAMTSL4-AS1, PRR9, MIR488, SNORD74, ASH1L-AS1, S100A7L2, LINC01704, PCP4L1, SCARNA3, SCARNA4, SNORA80E, SNORD75, SNORD76, SNORD77, SNORD78, MIR554, MIR555, MIR556, MIR557, MIR92B, LOC729867, LOC730159, MIR765, MIR190B, MIR921, C1orf68, LOC100131107, TSTD1, CADM3-AS1, LOC100132111, LOC100147773, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-2, TRG-TCC2-6, TRX-CAT1-1, TRE-CTC1-5, TRL-CAG1-6, TRP-AGG2-1, TRG-TCC2-5, TRE-CTC1-2, TRD-GTC2-5, TRN-GTT1-1, TRD-GTC2-4, TRL-CAG1-5, TRG-TCC2-3, TRG-GCC1-4, TRR-TCT4-1, TRG-TCC2-4, TRP-CGG1-1, TRG-GCC1-3, TRD-GTC2-2, TRG-GCC1-2, TRE-CTC1-4, TRG-TCC2-2, TRG-GCC4-1, TRD-GTC2-3, TRL-CAG1-3, TRL-CAG1-4, TRG-GCC1-1, TRV-CAC1-1, TRG-GCC2-1, TRE-CTC1-3, TRL-CAG1-1, TRN-GTT2-2, TRE-TTC4-2, TRD-GTC2-1, C2CD4D, MIR1295A, RASAL2-AS1, MIR1255B2, MIR3119-1, MIR4259, MIR3120, MIR4257, MIR3119-2, MIR4258, MIR3658, LINC01133, DCST1-AS1, KIRREL-IT1, LOC100505795, LOC100505918, LOC100506023, GAS5-AS1, LOC100507670, PMF1-BGLAP, TNFAIP8L2-SCNM1, MIR4424, MIR4654, DNM3OS, MIR1295B, MIR5698, MIR5187, FALEC, UBE2Q1-AS1, DNM3-IT1, GBAT2, LINC01527, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928404, LINC01363, LOC101928565, LOC101928596, LOC101928650, LOC101928673, LOC101928696, LINC01657, LINC01741, LINC00970, MIR6737, MIR6738, MIR6878, MIR8083, LOC102724601, LINC01645, LOC105371433, LOC105371458, LINC01675, LINC01681, SCARNA26A, SCARNA26B, SNORA103, POP3
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
5.
GRCh37:
Chr1:152923645-153468131
GRCh38:
Chr1:152951169-153495655
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
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