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Items: 1 to 100 of 1803

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
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, 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, KPLCE, 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, LOC107985203, 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, 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, LOC125312414, LOC126805855, LOC126805856, LOC126805857, LOC126805858, LOC126805859, LOC126805860, LOC126805861, LOC126805862, LOC126805863, LOC126805864, LOC126805865, LOC126805866, LOC126805867, LOC126805868, LOC126805869, LOC126805870, LOC126805871, LOC126805872, LOC126805873, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC127814295, LOC128071543, LOC128772199, LOC128772200, LOC128772201, LOC128772202, LOC128772203, LOC128772204, LOC128772205, LOC128772206, LOC128772207, LOC128772208, LOC128772209, LOC128772210, LOC128772211, LOC128772212, LOC128772213, LOC128772214, LOC128772215, LOC128772216, LOC128772217, LOC128772218, LOC128772219, LOC128772220, LOC128772221, LOC128772222, LOC128772223, LOC128772224, LOC128772225, LOC128772226, LOC128772227, LOC128772228, LOC128772229, LOC128772230, LOC128772231, LOC128779115, LOC128781584, LOC128822934, 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, ABL2, ACKR1, ADAM15, ADAM15-EFNA4, 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, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, 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, EFNA4-EFNA3, 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, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, 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
See casesPathogenic
(Jul 16, 2013)		no assertion criteria provided
2.
GRCh37:
Chr1:154538977-157593874
GRCh38:
Chr1:154566501-157624084
MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PEAR1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RUSC1-AS1, RXFP4, SCAMP3, SCARNA26A, SCARNA26B, SCARNA4, SEMA4A, SH2D2A, SHC1, SLC25A44, SLC50A1, SMG5, SNORA80E, SSR2, SYT11, THBS3, THBS3-AS1, TMEM79, TRIM46, TSACC, TTC24, UBQLN4, VHLL, YY1AP1, ZBTB7B, ADAM15, ADAM15-EFNA4, ADAR, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ASH1L, ASH1L-AS1, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, CCT3, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST1-AS1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENTREP3, ETV3, ETV3L, FCRL4, FCRL5, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HCN3, HDGF, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LINC02772, LMNA, LOC101928120, LOC101928177, LOC106627981, LOC106627982, LOC110013312, LOC110121221, LOC110121262, LOC111828496, LOC112577495, LOC115801448, LOC115801449, LOC120893161, LOC120893162, LOC120893163, LOC121725059, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC128772231, LRRC71, MEF2D, METTL25B, MEX3A, MIR4258, MIR555, MIR6738, MIR765, MIR9-1, MIR9-1HG, MIR92B, MRPL24
See casesPathogenic
(Mar 19, 2013)		no assertion criteria provided
3.
GRCh37:
Chr1:155804210-156403997
GRCh38:
Chr1:155834419-156434205
ARHGEF2, ARHGEF2-AS2, BGLAP, CCT3, GLMP, GON4L, KHDC4, LAMTOR2, LMNA, LOC110013312, LOC110121262, LOC111828496, LOC115801448, LOC120893162, LOC121725059, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC126805876, LOC126805877, MEX3A, MIR6738, MIR9-1, MIR9-1HG, PAQR6, PMF1, PMF1-BGLAP, RAB25, RHBG, RIT1, RXFP4, SCARNA4, SEMA4A, SLC25A44, SMG5, SNORA80E, SSR2, SYT11, TMEM79, TSACC, UBQLN4, VHLL
See casesUncertain significance
(Oct 24, 2012)		no assertion criteria provided
4.
GRCh37:
Chr1:155870169-156108907
GRCh38:
Chr1:155900378-156139116
SSR2, UBQLN4, ARHGEF2, ARHGEF2-AS2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E
Charcot-Marie-Tooth disease type 2Uncertain significance
(Nov 2, 2018)		criteria provided, single submitter
5.
GRCh37:
Chr1:156084484
GRCh38:
Chr1:156114693
LMNALethal tight skin contracture syndrome, Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy 1A,
Familial partial lipodystrophy, Dunnigan type, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Emery-Dreifuss muscular dystrophy ...see more		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr1:156084485
GRCh38:
Chr1:156114694
LMNACongenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Lethal tight skin contracture syndrome,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Dilated Cardiomyopathy, Dominant, Limb-Girdle Muscular Dystrophy, Recessive,
Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy, Charcot-Marie-Tooth disease type 2,
Mandibuloacral dysplasia		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
7.
GRCh37:
Chr1:156084487
GRCh38:
Chr1:156114696
LMNAEmery-Dreifuss muscular dystrophy, not provided, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Congenital muscular dystrophy due to LMNA mutation, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome ...see more		Conflicting interpretations of pathogenicity
(Aug 3, 2018)		criteria provided, conflicting interpretations
8.
GRCh37:
Chr1:156084500
GRCh38:
Chr1:156114709
LMNACongenital muscular dystrophy due to LMNA mutation, Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan type,
Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1, Dilated cardiomyopathy 1A,
Lethal tight skin contracture syndrome, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Emery-Dreifuss muscular dystrophy ...see more		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr1:156084527
GRCh38:
Chr1:156114736
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia,
Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
10.
GRCh37:
Chr1:156084562
GRCh38:
Chr1:156114771
LMNAnot providedBenign
(Mar 3, 2015)		criteria provided, single submitter
11.
GRCh37:
Chr1:156084563
GRCh38:
Chr1:156114772
LMNAnot providedBenign
(Mar 3, 2015)		criteria provided, single submitter
12.
GRCh37:
Chr1:156084568
GRCh38:
Chr1:156114777
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia,
Emery-Dreifuss muscular dystrophy, Familial partial lipodystrophy, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
13.
GRCh37:
Chr1:156084572
GRCh38:
Chr1:156114781
LMNALimb-Girdle Muscular Dystrophy, Recessive, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Hutchinson-Gilford syndrome,
Charcot-Marie-Tooth disease type 2B1, Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type,
Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A ...see more		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr1:156084582
GRCh38:
Chr1:156114791
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1A,
Hutchinson-Gilford syndrome, Benign scapuloperoneal muscular dystrophy with cardiomyopathy ...see more		Likely benign
(Jul 23, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr1:156084601
GRCh38:
Chr1:156114810
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Lethal tight skin contracture syndrome, Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy,
Familial partial lipodystrophy, Mandibuloacral dysplasia, Congenital muscular dystrophy due to LMNA mutation,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
16.
GRCh37:
Chr1:156084612
GRCh38:
Chr1:156114821
LMNAnot providedBenign
(Mar 3, 2015)		criteria provided, single submitter
17.
GRCh37:
Chr1:156084622
GRCh38:
Chr1:156114831
LMNALipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Familial partial lipodystrophy, Dunnigan type, Lethal tight skin contracture syndrome,
not provided, Emery-Dreifuss muscular dystrophy, Maturity onset diabetes mellitus in young,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy 1ABenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Hutchinson-Gilford syndrome, ...see more		Benign/Likely benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:156084648
GRCh38:
Chr1:156114857
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
19.
GRCh37:
Chr1:156084666
GRCh38:
Chr1:156114875
LMNACongenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Dilated cardiomyopathy 1A, Lethal tight skin contracture syndrome, Emery-Dreifuss muscular dystrophy,
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
20.
GRCh37:
Chr1:156084668
GRCh38:
Chr1:156114877
LMNAnot providedLikely benign
(Apr 20, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr1:156084682
GRCh38:
Chr1:156114891
LMNAnot specifiedLikely benign
(Oct 31, 2017)		criteria provided, single submitter
22.
GRCh37:
Chr1:156084690-156109650
GRCh38:
Chr1:156114899-156139859
LMNA, LOC120893162, LOC126805877Charcot-Marie-Tooth disease type 2Uncertain significance
(Nov 14, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr1:156084690-156109650
GRCh38:
Chr1:156114899-156139859
LMNA, LOC120893162, LOC126805877Charcot-Marie-Tooth disease type 2Pathogenic
(Sep 19, 2017)		criteria provided, single submitter
24.
GRCh37:
Chr1:156084690-156096034
GRCh38:
Chr1:156114899-156126243
LMNA, LOC120893162Charcot-Marie-Tooth disease type 2Pathogenic
(Jan 5, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr1:156084698
GRCh38:
Chr1:156114907
LMNAnot specifiedUncertain significance
(Jan 20, 2017)		criteria provided, single submitter
26.
GRCh37:
Chr1:156084700-156085075
GRCh38:
Chr1:156114909-156115284
LMNACharcot-Marie-Tooth disease type 2Pathogenic
(Jan 14, 2019)		criteria provided, single submitter
27.
GRCh37:
Chr1:156084704-156084718
GRCh38:
Chr1:156114913-156114927
LMNAnot providednot providedno assertion provided
28.
GRCh37:
Chr1:156084705
GRCh38:
Chr1:156114914
LMNADilated Cardiomyopathy, Dominant, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease type 2, Mandibuloacral dysplasia, Lethal tight skin contracture syndrome,
Emery-Dreifuss muscular dystrophy, Congenital muscular dystrophy due to LMNA mutation, Familial partial lipodystrophy,
Hutchinson-Gilford syndrome		Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
29.
GRCh37:
Chr1:156084706
GRCh38:
Chr1:156114915
LMNACardiomyopathyUncertain significance
(Dec 18, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr1:156084709
GRCh38:
Chr1:156114918
LMNAnot provided, Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1,
Restrictive dermopathy 2, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Familial partial lipodystrophy, Dunnigan type, Congenital muscular dystrophy due to LMNA mutationMandibuloacral dysplasia with type A lipodystrophy,
Cardiomyopathy, ...see more		Uncertain significance
(May 3, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:156084710
GRCh38:
Chr1:156114919
LMNAM1LCharcot-Marie-Tooth disease type 2Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr1:156084710-156212953
GRCh38:
Chr1:156114919-156243162
SEMA4A, SLC25A44, BGLAP, LMNA, LOC110013312, LOC120893162, LOC126805877, PMF1, PMF1-BGLAPCharcot-Marie-Tooth disease type 2Pathogenic
(May 29, 2019)		criteria provided, single submitter
33.
GRCh37:
Chr1:156084710-156085065
GRCh38:
Chr1:156114919-156115274
LMNALaminopathy, Primary dilated cardiomyopathyPathogenic
(Nov 25, 2014)		criteria provided, single submitter
34.
GRCh37:
Chr1:156084711
GRCh38:
Chr1:156114920
LMNAM1KCardiovascular phenotypePathogenic
(Nov 3, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr1:156084712
GRCh38:
Chr1:156114921
LMNAM1Inot provided, Charcot-Marie-Tooth disease type 2, See cases
Pathogenic
(Feb 8, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr1:156084712
GRCh38:
Chr1:156114921
LMNAM1Inot providedPathogenic
(Apr 28, 2017)		criteria provided, single submitter
37.
GRCh37:
Chr1:156084712
GRCh38:
Chr1:156114921
LMNAM1ICharcot-Marie-Tooth disease type 2, not providedPathogenic/Likely pathogenic
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:156084713
GRCh38:
Chr1:156114922
LMNAE2*Charcot-Marie-Tooth disease type 2, Cardiovascular phenotypePathogenic
(Nov 29, 2018)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:156084716
GRCh38:
Chr1:156114925
LMNAT3ACharcot-Marie-Tooth disease type 2, not providedUncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:156084716-156084717
GRCh38:
Chr1:156114925-156114926
LMNAS5fsCharcot-Marie-Tooth disease type 2Pathogenic
(Aug 9, 2018)		criteria provided, single submitter
41.
GRCh37:
Chr1:156084717
GRCh38:
Chr1:156114926
LMNAT3NCardiomyopathyUncertain significance
(Nov 27, 2019)		criteria provided, single submitter
42.
GRCh37:
Chr1:156084719
GRCh38:
Chr1:156114928
LMNAP4Anot provided, Charcot-Marie-Tooth disease type 2Uncertain significance
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:156084719
GRCh38:
Chr1:156114928
LMNAP4SCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr1:156084720
GRCh38:
Chr1:156114929
LMNAP4QCharcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr1:156084720
GRCh38:
Chr1:156114929
LMNAP4LCharcot-Marie-Tooth disease type 2Uncertain significance
(Jul 6, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr1:156084720
GRCh38:
Chr1:156114929
LMNAP4RCharcot-Marie-Tooth disease type 2Pathogenic
(Sep 1, 2021)		criteria provided, single submitter
47.
GRCh37:
Chr1:156084721
GRCh38:
Chr1:156114930
LMNACharcot-Marie-Tooth disease type 2Likely benign
(Jan 15, 2020)		criteria provided, single submitter
48.
GRCh37:
Chr1:156084721
GRCh38:
Chr1:156114930
LMNACardiovascular phenotype, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2,
not specified, Cardiomyopathy, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, Familial partial lipodystrophy, Dunnigan typeDilated cardiomyopathy 1A,
Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2, Congenital muscular dystrophy due to LMNA mutation,
Charcot-Marie-Tooth disease type 2B1, ...see more		Benign/Likely benign
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:156084722
GRCh38:
Chr1:156114931
LMNAS5fsCharcot-Marie-Tooth disease type 2Pathogenic
(Mar 18, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr1:156084723
GRCh38:
Chr1:156114932
LMNAQ6fsCharcot-Marie-Tooth disease type 2Pathogenic
(Mar 18, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr1:156084724
GRCh38:
Chr1:156114933
LMNACharcot-Marie-Tooth disease type 2Likely benign
(Mar 23, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr1:156084725
GRCh38:
Chr1:156114934
LMNAQ6*Primary dilated cardiomyopathyPathogenic
(Jun 2, 2011)		criteria provided, single submitter
53.
GRCh37:
Chr1:156084728
GRCh38:
Chr1:156114937
LMNAR7WCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 2, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr1:156084729
GRCh38:
Chr1:156114938
LMNAR7QCharcot-Marie-Tooth disease type 2, Cardiomyopathy, not specified
Uncertain significance
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:156084730
GRCh38:
Chr1:156114939
LMNACharcot-Marie-Tooth disease type 2Likely benign
(Aug 1, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr1:156084731
GRCh38:
Chr1:156114940
LMNAR8SCharcot-Marie-Tooth disease type 2Uncertain significance
(May 30, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr1:156084731
GRCh38:
Chr1:156114940
LMNAR8CCharcot-Marie-Tooth disease type 2Uncertain significance
(Nov 3, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr1:156084731
GRCh38:
Chr1:156114940
LMNAR8GCharcot-Marie-Tooth disease type 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr1:156084732
GRCh38:
Chr1:156114941
LMNAR8HCardiovascular phenotype, Charcot-Marie-Tooth disease type 2Uncertain significance
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:156084733
GRCh38:
Chr1:156114942
LMNACharcot-Marie-Tooth disease type 2, CardiomyopathyLikely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr1:156084734
GRCh38:
Chr1:156114943
LMNAA9TCharcot-Marie-Tooth disease type 2, not providedUncertain significance
(Dec 27, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:156084734
GRCh38:
Chr1:156114943
LMNAA9PCharcot-Marie-Tooth disease type 2Uncertain significance
(Mar 19, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr1:156084736-156084737
GRCh38:
Chr1:156114945-156114946
LMNAT10fsnot providednot providedno assertion provided
64.
GRCh37:
Chr1:156084737
GRCh38:
Chr1:156114946
LMNAT10PCharcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr1:156084738
GRCh38:
Chr1:156114947
LMNAR11fsnot providednot providedno assertion provided
66.
GRCh37:
Chr1:156084738
GRCh38:
Chr1:156114947
LMNAT10IInborn genetic diseases, not provided, Familial partial lipodystrophy, Dunnigan type
Pathogenic/Likely pathogenic
(Mar 15, 2016)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:156084740
GRCh38:
Chr1:156114949
LMNAR11CCardiovascular phenotypeUncertain significance
(Jun 14, 2023)		criteria provided, single submitter
68.
GRCh37:
Chr1:156084741
GRCh38:
Chr1:156114950
LMNAR11LCharcot-Marie-Tooth disease type 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr1:156084746
GRCh38:
Chr1:156114955
LMNAG13RCardiomyopathyUncertain significance
(Nov 28, 2017)		criteria provided, single submitter
70.
GRCh37:
Chr1:156084749
GRCh38:
Chr1:156114958
LMNAA14TCharcot-Marie-Tooth disease type 2Uncertain significance
(May 29, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr1:156084750
GRCh38:
Chr1:156114959
LMNAA14Enot providedUncertain significance
(Apr 8, 2021)		criteria provided, single submitter
72.
GRCh37:
Chr1:156084751
GRCh38:
Chr1:156114960
LMNACharcot-Marie-Tooth disease type 2, Cardiovascular phenotypeLikely benign
(Feb 3, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:156084752
GRCh38:
Chr1:156114961
LMNAQ15*Charcot-Marie-Tooth disease type 2Pathogenic
(Sep 1, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr1:156084753
GRCh38:
Chr1:156114962
LMNAQ15PCharcot-Marie-Tooth disease type 2Uncertain significance
(May 3, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr1:156084756
GRCh38:
Chr1:156114965
LMNAA16DCharcot-Marie-Tooth disease type 2, Familial partial lipodystrophy, Dunnigan type, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2B1, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2Emery-Dreifuss muscular dystrophy 3, autosomal recessive,
...see more		Uncertain significance
(Nov 15, 2021)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr1:156084756
GRCh38:
Chr1:156114965
LMNAS17fsnot providedPathogenic
(Jan 20, 2015)		criteria provided, single submitter
77.
GRCh37:
Chr1:156084759-156084760
GRCh38:
Chr1:156114968-156114969
LMNAT19fsCharcot-Marie-Tooth disease type 2Pathogenic
(Sep 1, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr1:156084760
GRCh38:
Chr1:156114969
LMNACardiovascular phenotype, Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules, Limb-Girdle Muscular Dystrophy, Recessive,
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Emery-Dreifuss muscular dystrophy, Cardiomyopathy,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan typeBenign scapuloperoneal muscular dystrophy with cardiomyopathy,
Congenital muscular dystrophy due to LMNA mutation, Mandibuloacral dysplasia with type A lipodystrophy, Charcot-Marie-Tooth disease type 2B1,
Hutchinson-Gilford syndrome, Lethal tight skin contracture syndrome, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Familial partial lipodystrophy, Dunnigan type, Charcot-Marie-Tooth disease type 2B1,
Mandibuloacral dysplasia with type A lipodystrophy, Congenital muscular dystrophy due to LMNA mutation, Restrictive dermopathy 2,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type,
Hutchinson-Gilford syndrome, ...see more		Benign/Likely benign
(Aug 1, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr1:156084766
GRCh38:
Chr1:156114975
LMNACardiovascular phenotypeLikely benign
(Feb 2, 2020)		criteria provided, single submitter
80.
GRCh37:
Chr1:156084768
GRCh38:
Chr1:156114977
LMNAP20LCongenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Dec 18, 2017)		criteria provided, single submitter
81.
GRCh37:
Chr1:156084771
GRCh38:
Chr1:156114980
LMNAL21PSevere muscular hypotonia, Developmental regression, Relative macrocephaly,
Charcot-Marie-Tooth disease type 2		Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr1:156084773
GRCh38:
Chr1:156114982
LMNAS22Anot providedLikely pathogenic
(Feb 20, 2014)		criteria provided, single submitter
83.
GRCh37:
Chr1:156084774
GRCh38:
Chr1:156114983
LMNAS22fsnot providedPathogenic
(Aug 12, 2019)		criteria provided, single submitter
84.
GRCh37:
Chr1:156084774
GRCh38:
Chr1:156114983
LMNAS22LDilated cardiomyopathy 1A, Mandibuloacral dysplasia with type A lipodystrophy, Restrictive dermopathy 2,
Benign scapuloperoneal muscular dystrophy with cardiomyopathy, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome,
Congenital muscular dystrophy due to LMNA mutation, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, Dilated cardiomyopathy 1A,
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, Charcot-Marie-Tooth disease type 2B1Familial partial lipodystrophy, Dunnigan type,
Charcot-Marie-Tooth disease type 2, not provided, Cardiomyopathy,
...see more		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr1:156084774-156084775
GRCh38:
Chr1:156114983-156114984
LMNAS22fsnot providedPathogenic
(Apr 29, 2016)		criteria provided, single submitter
86.
GRCh37:
Chr1:156084775
GRCh38:
Chr1:156114984
LMNACardiovascular phenotypeLikely benign
(Feb 2, 2020)		criteria provided, single submitter
87.
GRCh37:
Chr1:156084775
GRCh38:
Chr1:156114984
LMNAnot providedUncertain significance
(Aug 27, 2019)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNAT24ICharcot-Marie-Tooth disease type 2B1, Familial partial lipodystrophy, Dunnigan type, Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,
Dilated cardiomyopathy 1A, Restrictive dermopathy 2, Benign scapuloperoneal muscular dystrophy with cardiomyopathy,
Heart-hand syndrome, Slovenian type, Hutchinson-Gilford syndrome, Mandibuloacral dysplasia with type A lipodystrophy,
Congenital muscular dystrophy due to LMNA mutation, Emery-Dreifuss muscular dystrophy 3, autosomal recessiveCardiovascular phenotype,
...see more		Uncertain significance
(Apr 6, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNAT24SCharcot-Marie-Tooth disease type 2, Cardiovascular phenotypeUncertain significance
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:156084780
GRCh38:
Chr1:156114989
LMNAR25fsCharcot-Marie-Tooth disease type 2Pathogenic
(Jan 23, 2020)		criteria provided, single submitter
91.
GRCh37:
Chr1:156084781
GRCh38:
Chr1:156114990
LMNAnot specifiedLikely benign
(Jan 31, 2020)		criteria provided, single submitter
92.
GRCh37:
Chr1:156084782
GRCh38:
Chr1:156114991
LMNAR25CCardiovascular phenotype, Charcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr1:156084782
GRCh38:
Chr1:156114991
LMNAR25GCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided
Pathogenic/Likely pathogenic
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr1:156084783
GRCh38:
Chr1:156114992
LMNAR25LCardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not provided,
Cardiomyopathy		Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr1:156084783
GRCh38:
Chr1:156114992
LMNAR25PCharcot-Marie-Tooth disease type 2Likely pathogenic
(Oct 13, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr1:156084784
GRCh38:
Chr1:156114993
LMNACharcot-Marie-Tooth disease type 2, not providedConflicting interpretations of pathogenicity
(Jun 19, 2021)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr1:156084785
GRCh38:
Chr1:156114994
LMNAI26VCharcot-Marie-Tooth disease type 2Uncertain significance
(Nov 3, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr1:156084786
GRCh38:
Chr1:156114995
LMNAI26Tnot providedUncertain significance
(Jan 28, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr1:156084787
GRCh38:
Chr1:156114996
LMNACardiovascular phenotype, Charcot-Marie-Tooth disease type 2, not specified,
not provided, Cardiomyopathy		Conflicting interpretations of pathogenicity
(Sep 15, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr1:156084789
GRCh38:
Chr1:156114998
LMNAT27IDilated cardiomyopathy 1A, Congenital muscular dystrophy due to LMNA mutationLikely pathogenic
(Sep 12, 2019)		criteria provided, single submitter
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