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Items: 1 to 100 of 542

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
LOC122128421, LOC122128422, LOC122128423, LOC122128424, LOC122128425, LOC122128426, LOC122128427, LOC122128428, LOC122128429, LOC122128430, LOC122128431, LOC122128432, LOC122128433, LOC122128434, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SEMA4A, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1, ABL2, ACKR1, ADAM15, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf112, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C1orf68, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FLAD1, FLG, FLG-AS1, FLG2, FLJ23867, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC106627981, LOC106627982, LOC107880064, LOC108251792, LOC108254671, LOC108281190, LOC110013312, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC110121221, LOC110121262, LOC111464988, LOC111556138, LOC111828496, LOC112543491, LOC112577492, LOC112577493, LOC112577494, LOC112577495, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801442, LOC115801443, LOC115801444, LOC115801445, LOC115801446, LOC115801447, LOC115801448, LOC115801449, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893159, LOC120893160, LOC120893161, LOC120893162, LOC120893163, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725054, LOC121725055, LOC121725056, LOC121725058, LOC121725059, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064
See casesPathogenic
(Jul 16, 2013)		no assertion criteria provided
2.
GRCh37:
Chr1:157717036-175990383
GRCh38:
Chr1:157747246-176021247
ACKR1, ADAMTS4, ADCY10, AIM2, ALDH9A1, ANKRD45, APCS, APOA2, ARHGAP30, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf112, C1orf226, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CENPL, CFAP126, CFAP45, COP1, COPA, CREG1, CRP, DARS2, DCAF6, DCAF8, DCAF8-DT, DDR2, DEDD, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, DUSP23, F11R, F5, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL6, FCRLA, FCRLB, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, ILDR2, ITLN1, ITLN2, KCNJ10, KCNJ9, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01657, LINC01675, LINC01681, LINC01704, LINC02819, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112543491, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC729867, LRRC52, LRRC52-AS1, LY9, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4259, MIR4654, MIR5187, MIR556, MIR557, MIR921, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NHLH1, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, PBX1, PBX1-AS1, PCP4L1, PEA15, PEX19, PFDN2, PIGC, PIGM, POGK, POU2F1, PPOX, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, PYDC5, PYHIN1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCARNA3, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC9C2, SMIM42, SNHG28, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, SPTA1, STYXL2, SUCO, TADA1, TAGLN2, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VSIG8, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
3.
GRCh37:
Chr1:161710697-173934292
GRCh38:
Chr1:161740907-173965154
ADCY10, ALDH9A1, ANKRD45, ATF6, ATF6-DT, ATP1B1, BLZF1, C1orf105, C1orf112, C1orf226, CCDC181, CCDC190, CD247, CENPL, CREG1, DARS2, DCAF6, DDR2, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, F5, FAM78B, FAM78B-AS1, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, HSD17B7, ILDR2, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725062, LOC121725063, LOC121725064, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4654, MIR556, MIR557, MIR921, MPC2, MPZL1, MROH9, MYOC, MYOCOS, NME7, NOS1AP, NTMT2, NUF2, OLFML2B, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RC3H1, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TRP-AGG2-1, TRP-CGG1-1, UAP1, UCK2, UHMK1, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
GRCh37:
Chr1:163352313-175846158
GRCh38:
Chr1:163382523-175877022
ADCY10, ALDH9A1, ANKRD45, ATP1B1, BLZF1, C1orf105, C1orf112, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FAM78B, FAM78B-AS1, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC108251792, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Mar 19, 2013)		no assertion criteria provided
5.
GRCh37:
Chr1:164891892-180030724
GRCh38:
Chr1:164922655-180061589
ABL2, ADCY10, ALDH9A1, ANGPTL1, ANKRD45, ASTN1, ATP1B1, AXDND1, BLZF1, BRINP2, C1orf105, C1orf112, C1orf220, CACYBP, CCDC181, CD247, CENPL, CEP350, CLEC20A, COP1, CREG1, CRYZL2P-SEC16B, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01645, LINC01657, LINC01675, LINC01681, LINC01741, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC110121063, LOC110121105, LOC111464988, LOC111556138, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4424, MIR488, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NPHS2, NTMT2, PAPPA2, PIGC, POGK, POU2F1, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RXRG, SCARNA3, SCYL3, SEC16B, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SOAT1, STYXL2, SUCO, TADA1, TBX19, TDRD5, TEX35, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
6.
GRCh37:
Chr1:166732069-175296559
GRCh38:
Chr1:166762832-175327423
ADCY10, ANKRD45, ATP1B1, BLZF1, C1orf105, C1orf112, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01681, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC110121063, LOC110121105, LOC111464988, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, MAEL, METTL13, METTL18, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR557, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PIGC, POGK, POU2F1, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr1:168284060-175268435
GRCh38:
Chr1:168314822-175299299
ANKRD45, ATP1B1, BLZF1, C1orf105, C1orf112, CACYBP, CCDC181, CENPL, DARS2, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPR52, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01681, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC110121105, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, METTL13, METTL18, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR557, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PIGC, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, SCYL3, SELE, SELL, SELP, SERPINC1, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SUCO, TEX50, TNFSF18, TNFSF4, TNN, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
8.
GRCh37:
Chr1:169187474-178044969
GRCh38:
Chr1:169218236-178075834
KIFAP3, KLHL20, LINC01142, LINC01645, LINC01657, LINC01681, LINC01741, LOC100506023, LOC110121105, LOC111556138, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725064, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, METTL13, METTL18, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR488, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PAPPA2, PIGC, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, SCARNA3, SCYL3, SEC16B, SELE, SELL, SELP, SERPINC1, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SUCO, TEX50, TNFSF18, TNFSF4, TNN, TNR, VAMP4, ZBTB37, ANKRD45, ASTN1, BLZF1, BRINP2, C1orf105, C1orf112, CACYBP, CCDC181, CENPL, COP1, CRYZL2P-SEC16B, DARS2, DNM3, DNM3-IT1, DNM3OS, F5, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPR52, KIAA0040
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
9.
GRCh37:
Chr1:169481200
GRCh38:
Chr1:169511962
F5Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr1:169481223
GRCh38:
Chr1:169511985
F5Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr1:169481403
GRCh38:
Chr1:169512165
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr1:169481498
GRCh38:
Chr1:169512260
F5Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr1:169481514
GRCh38:
Chr1:169512276
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr1:169481612
GRCh38:
Chr1:169512374
F5Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr1:169481639
GRCh38:
Chr1:169512401
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr1:169481694
GRCh38:
Chr1:169512456
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr1:169481731
GRCh38:
Chr1:169512493
F5Thrombophilia due to thrombin defect, Factor V deficiency, Thrombophilia due to activated protein C resistance,
not provided, Budd-Chiari syndrome		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:169481771
GRCh38:
Chr1:169512533
F5Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr1:169481775
GRCh38:
Chr1:169512537
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr1:169481836
GRCh38:
Chr1:169512598
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr1:169481852
GRCh38:
Chr1:169512614
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr1:169481938
GRCh38:
Chr1:169512700
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr1:169481950
GRCh38:
Chr1:169512712
F5not provided, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr1:169482020
GRCh38:
Chr1:169512782
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr1:169482063
GRCh38:
Chr1:169512825
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
26.
GRCh37:
Chr1:169482115
GRCh38:
Chr1:169512877
F5not provided, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Benign/Likely benign
(May 12, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr1:169482118
GRCh38:
Chr1:169512880
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr1:169482119
GRCh38:
Chr1:169512881
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr1:169482147
GRCh38:
Chr1:169512909
F5Factor V deficiency, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr1:169482250
GRCh38:
Chr1:169513012
F5Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to thrombin defect		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
31.
GRCh37:
Chr1:169482261
GRCh38:
Chr1:169513023
F5Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
32.
GRCh37:
Chr1:169482294
GRCh38:
Chr1:169513056
F5Budd-Chiari syndrome, Factor V deficiency, Thrombophilia due to activated protein C resistance,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr1:169482305
GRCh38:
Chr1:169513067
F5Factor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Thrombophilia due to thrombin defect		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr1:169482314
GRCh38:
Chr1:169513076
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr1:169482381
GRCh38:
Chr1:169513143
F5Factor V deficiency, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr1:169482419
GRCh38:
Chr1:169513181
F5Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr1:169482433
GRCh38:
Chr1:169513195
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
38.
GRCh37:
Chr1:169482436
GRCh38:
Chr1:169513198
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr1:169482508
GRCh38:
Chr1:169513270
F5Factor V deficiency, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Thrombophilia due to thrombin defect		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
40.
GRCh37:
Chr1:169482660
GRCh38:
Chr1:169513422
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr1:169482678
GRCh38:
Chr1:169513440
F5not provided, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Benign/Likely benign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr1:169482679
GRCh38:
Chr1:169513441
F5Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr1:169482713
GRCh38:
Chr1:169513475
F5Factor V deficiency, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr1:169482789
GRCh38:
Chr1:169513551
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
45.
GRCh37:
Chr1:169482953
GRCh38:
Chr1:169513715
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr1:169482970
GRCh38:
Chr1:169513732
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
47.
GRCh37:
Chr1:169483075
GRCh38:
Chr1:169513837
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr1:169483110
GRCh38:
Chr1:169513872
F5Factor V deficiency, Thrombophilia due to thrombin defect, Budd-Chiari syndrome,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr1:169483151
GRCh38:
Chr1:169513913
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr1:169483155
GRCh38:
Chr1:169513917
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr1:169483161
GRCh38:
Chr1:169513923
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr1:169483175
GRCh38:
Chr1:169513937
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Benign/Likely benign
(Apr 27, 2017)		criteria provided, single submitter
53.
GRCh37:
Chr1:169483185
GRCh38:
Chr1:169513947
F5Factor V deficiency, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr1:169483188
GRCh38:
Chr1:169513950
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr1:169483263
GRCh38:
Chr1:169514025
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
56.
GRCh37:
Chr1:169483335
GRCh38:
Chr1:169514097
F5Thrombophilia due to thrombin defect, Factor V deficiency, Thrombophilia due to activated protein C resistance,
Budd-Chiari syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr1:169483394
GRCh38:
Chr1:169514156
F5Thrombophilia due to thrombin defect, Factor V deficiency, Thrombophilia due to activated protein C resistance,
Budd-Chiari syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr1:169483402
GRCh38:
Chr1:169514164
F5Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr1:169483447
GRCh38:
Chr1:169514209
F5Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
60.
GRCh37:
Chr1:169483476
GRCh38:
Chr1:169514238
F5Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance, Factor V deficiency,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
61.
GRCh37:
Chr1:169483561
GRCh38:
Chr1:169514323
F5D2222Gnot specified, not provided, Thrombophilia due to activated protein C resistance
Benign/Likely benign
(May 4, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:169483564
GRCh38:
Chr1:169514326
F5C2221YInborn genetic diseasesUncertain significance
(Aug 22, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr1:169483582
GRCh38:
Chr1:169514344
F5R2215HFactor V deficiencyUncertain significancecriteria provided, single submitter
64.
GRCh37:
Chr1:169483597
GRCh38:
Chr1:169514359
F5Q2210LThrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr1:169483620
GRCh38:
Chr1:169514382
F5not providedLikely benign
(Mar 29, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr1:169483626
GRCh38:
Chr1:169514388
F5not providedLikely benign
(Jan 17, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr1:169483637
GRCh38:
Chr1:169514399
F5I2197VThrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Inborn genetic diseases,
Budd-Chiari syndrome, Factor V deficiency		Uncertain significance
(Aug 10, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:169483640
GRCh38:
Chr1:169514402
F5I2196VInborn genetic diseasesUncertain significance
(Aug 28, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr1:169483671
GRCh38:
Chr1:169514433
F5K2185NInborn genetic diseasesUncertain significance
(Nov 29, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr1:169483672
GRCh38:
Chr1:169514434
F5K2185RFactor V deficiency, Factor V deficiency, Pregnancy loss, recurrent, susceptibility to, 1,
Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Ischemic stroke
Likely benign
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:169483696
GRCh38:
Chr1:169514458
F5I2177Nnot providedUncertain significance
(May 1, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr1:169483762
GRCh38:
Chr1:169514524
F5not providedBenign
(May 11, 2021)		criteria provided, single submitter
73.
GRCh37:
Chr1:169483844
GRCh38:
Chr1:169514606
F5not providedBenign
(Nov 11, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr1:169484552
GRCh38:
Chr1:169515314
F5not providedBenign
(Nov 11, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr1:169484721
GRCh38:
Chr1:169515483
F5Inborn genetic diseasesLikely benign
(Sep 16, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr1:169484751
GRCh38:
Chr1:169515513
F5Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance, Factor V deficiency,
Budd-Chiari syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
77.
GRCh37:
Chr1:169484767
GRCh38:
Chr1:169515529
F5M2148Tnot specified, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Benign/Likely benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr1:169484808
GRCh38:
Chr1:169515570
F5Inborn genetic diseases, not providedLikely benign
(Jun 6, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:169484809
GRCh38:
Chr1:169515571
F5T2134Mnot providedUncertain significanceno assertion criteria provided
80.
GRCh37:
Chr1:169484850
GRCh38:
Chr1:169515612
F5Thrombophilia due to thrombin defect, Factor V deficiency, Thrombophilia due to activated protein C resistance,
Budd-Chiari syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr1:169487686
GRCh38:
Chr1:169518448
F5Thrombophilia due to thrombin defect, not provided, Thrombophilia due to activated protein C resistance,
Inborn genetic diseases, Budd-Chiari syndrome, Factor V deficiency
Conflicting interpretations of pathogenicity
(Aug 1, 2022)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr1:169487691
GRCh38:
Chr1:169518453
F5R2102CFactor V deficiencyLikely pathogenic
(Feb 1, 2019)		criteria provided, single submitter
83.
GRCh37:
Chr1:169487696
GRCh38:
Chr1:169518458
F5R2100HInborn genetic diseasesUncertain significance
(Mar 23, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr1:169487697
GRCh38:
Chr1:169518459
F5R2100CBudd-Chiari syndrome, Factor V deficiency, Thrombophilia due to thrombin defect
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr1:169487754
GRCh38:
Chr1:169518516
F5Q2081EBudd-Chiari syndrome, Factor V deficiency, Thrombophilia due to activated protein C resistance,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr1:169487765
GRCh38:
Chr1:169518527
F5I2077Tnot providedUncertain significance
(Mar 1, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr1:169487790
GRCh38:
Chr1:169518552
F5P2069SInborn genetic diseasesUncertain significance
(Nov 17, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr1:169487821
GRCh38:
Chr1:169518583
F5not specified, not providedBenign
(May 11, 2021)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:169488927
GRCh38:
Chr1:169519689
F5Factor V deficiencyBenign
(Nov 3, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr1:169489512
GRCh38:
Chr1:169520274
F5not providedBenign
(Jun 18, 2021)		criteria provided, single submitter
91.
GRCh37:
Chr1:169489585
GRCh38:
Chr1:169520347
F5not providedBenign
(Nov 11, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr1:169489751
GRCh38:
Chr1:169520513
F5Budd-Chiari syndrome, Factor V deficiency, Thrombophilia due to thrombin defect
Conflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr1:169489772
GRCh38:
Chr1:169520534
F5G2060DThromboembolism, Factor V deficiencyConflicting interpretations of pathogenicity
(Feb 1, 2019)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr1:169489787
GRCh38:
Chr1:169520549
F5R2055QBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr1:169489829
GRCh38:
Chr1:169520591
F5I2041SFactor V deficiencyUncertain significanceno assertion criteria provided
96.
GRCh37:
Chr1:169489864
GRCh38:
Chr1:169520626
F5not providedLikely benign
(Mar 29, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr1:169489946
GRCh38:
Chr1:169520708
F5not providedBenign
(Nov 11, 2018)		criteria provided, single submitter
98.
GRCh37:
Chr1:169492251-169492254
GRCh38:
Chr1:169523013-169523016
F5not providedBenign
(Nov 11, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr1:169492473
GRCh38:
Chr1:169523235
F5W2004RFactor V deficiencyUncertain significance
(Sep 1, 2022)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:169492501
GRCh38:
Chr1:169523263
F5Inborn genetic diseasesLikely benign
(Nov 11, 2019)		criteria provided, single submitter
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