ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance total
545 229 3369 2743 249 1 7116

Gene and significance breakdown #

Total genes and gene combinations: 50
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance total
LMNA 283 111 517 411 20 0 1341
AARS1 54 11 679 552 39 0 1335
KIF1B 0 0 636 536 54 0 1223
MFN2 126 64 488 321 57 1 1043
MED25 1 0 301 352 30 0 684
GARS1 13 8 329 255 25 0 630
BSCL2, HNRNPUL2-BSCL2 25 8 222 184 13 0 452
LMNA, LOC126805877 19 13 42 38 2 0 114
LMNA, LOC129931597 18 8 27 17 1 0 71
KIF1B, LOC126805614 0 0 35 30 2 0 67
LOC129929426, MFN2 0 0 28 8 1 0 36
KIF1B, LOC129388446 0 0 16 9 0 0 25
KIF1B, LOC129388447 0 0 6 11 1 0 18
MED25, MIR6800 0 0 3 13 2 0 18
RAB7A 0 0 5 1 0 0 6
LOC129929423, MFN2 0 0 5 0 0 0 5
LRSAM1 0 0 4 1 0 0 5
BSCL2 2 0 2 0 0 0 4
HSPB8 0 0 3 1 0 0 3
MFN2, PLOD1 0 0 2 0 1 0 3
DYNC1H1 0 0 2 0 0 0 2
LMNA, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600 1 0 1 0 0 0 2
MME 0 1 1 0 0 0 2
AARS1, COG4, DDX19A, DDX19A-DT, DDX19B, FCSK, IL34, LOC112486204, LOC125177345, LOC126862386, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, SF3B3, SNORD111, SNORD111B, ST3GAL2 0 0 1 0 0 0 1
AARS1, COG4, DDX19A, DDX19B, FCSK, IL34, MTSS2, SF3B3, ST3GAL2, VAC14 0 0 1 0 0 0 1
ADAM15, ADAR, AQP10, ARHGEF2, ASH1L, ATP8B2, BCAN, BGLAP, C1orf43, CCT3, CFAP141, CHRNB2, CKS1B, CLK2, CRABP2, DAP3, DCST1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, ENTREP3, FDPS, FLAD1, GBA1, GLMP, GON4L, GPATCH4, HAPLN2, HAX1, HCN3, HDGF, IL6R, INSRR, IQGAP3, ISG20L2, KCNN3, KHDC4, KRTCAP2, LAMTOR2, LENEP, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, MTX1, MUC1, NAXE, NES, NTRK1, PAQR6, PBXIP1, PKLR, PMF1, PMF1-BGLAP, PMVK, PRCC, PYGO2, RAB25, RHBG, RIT1, RUSC1, RXFP4, SCAMP3, SEMA4A, SH2D2A, SHC1, SHE, SLC25A44, SLC50A1, SMG5, SSR2, SYT11, TDRD10, THBS3, TMEM79, TPM3, TRIM46, TSACC, TTC24, UBAP2L, UBE2Q1, UBQLN4, VHLL, YY1AP1, ZBTB7B 0 0 1 0 0 0 1
AGTRAP, ANGPTL7, C1orf167, CASZ1, CENPS, CENPS-CORT, CIROZ, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DISP3, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, H6PD, KIAA2013, KIF1B, LZIC, MAD2L2, MASP2, MFN2, MIIP, MTHFR, MTOR, NMNAT1, NPPA, NPPB, PEX14, PGD, PIK3CD, PLOD1, RBP7, SLC25A33, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1, VPS13D 0 0 1 0 0 0 1
AQP1, CRHR2, FKBP14, GARS1, GGCT, INMT, MINDY4, MTURN, NOD1, PLEKHA8, ZNRF2 0 0 1 0 0 0 1
AQP1, CRHR2, GARS1, GHRHR, INMT, MINDY4 0 0 1 0 0 0 1
ARHGEF2, BCAN, BGLAP, CCT3, CRABP2, DAP3, GLMP, GON4L, GPATCH4, HAPLN2, HDGF, INSRR, IQGAP3, ISG20L2, KHDC4, LAMTOR2, LMNA, MEF2D, METTL25B, MEX3A, MIR9-1, MIR9-1HG, MRPL24, MSTO1, NAXE, NES, NTRK1, PAQR6, PMF1, PMF1-BGLAP, PRCC, RAB25, RHBG, RIT1, RXFP4, SEMA4A, SH2D2A, SLC25A44, SMG5, SSR2, SYT11, TMEM79, TSACC, TTC24, UBQLN4, VHLL, YY1AP1 1 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, LOC120893162, LOC121725059, LOC122128442, LOC122128443, LOC122128444, LOC126805876, LOC126805877, LOC129931577, LOC129931578, LOC129931579, LOC129931580, LOC129931581, LOC129931582, LOC129931583, LOC129931584, LOC129931585, LOC129931586, LOC129931587, LOC129931588, LOC129931589, LOC129931590, LOC129931591, LOC129931592, LOC129931593, LOC129931594, LOC129931595, LOC129931596, LOC129931597, LOC129931598, LOC129931599, LOC129931600, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4 0 0 1 0 0 0 1
ATP7A 0 0 1 0 0 0 1
BGLAP, LMNA, LOC110013312, LOC120893162, LOC126805877, LOC129931597, LOC129931598, LOC129931599, LOC129931600, LOC129931601, LOC129931602, LOC129931603, LOC129931604, LOC129931605, LOC129931606, LOC129931607, LOC129931608, LOC129931609, LOC129931610, LOC129931611, LOC129931612, PMF1, PMF1-BGLAP, SEMA4A, SLC25A44 1 0 0 0 0 0 1
BSCL2, LBHD1, LRRN4CL, UBXN1, UQCC3 0 0 1 0 0 0 1
CENPS, CENPS-CORT, CORT, DFFA, KIF1B, PEX14, PGD 0 0 1 0 0 0 1
COL12A1 0 0 1 0 0 0 1
DCTN1 0 0 1 0 0 0 1
EMD 0 1 0 0 0 0 1
HSPB1 0 0 1 0 0 0 1
HSPB3 0 1 0 0 0 0 1
KIAA2013, MFN2, NPPA, NPPB, PLOD1 0 0 1 0 0 0 1
KIF1A 0 1 0 0 0 0 1
KIF1B, LOC129929363 0 0 0 1 0 0 1
KIF5A 0 1 0 0 0 0 1
LMNA, LOC120893162, LOC129931597, LOC129931598, LOC129931599 1 0 0 0 0 0 1
LOC129929423, MFN2, PLOD1 0 0 0 0 1 0 1
MIR4497, TRPV4 0 0 0 1 0 0 1
SETX 0 0 1 0 0 0 1
SLC5A7 0 1 0 0 0 0 1
TRPV4 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance total
Labcorp Genetics (formerly Invitae), Labcorp 545 223 3275 2719 224 1 6987
Illumina Laboratory Services, Illumina 0 0 94 31 39 0 163
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 5 3 0 0 0 8
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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