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
496 213 3051 2412 246 1 6400

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 256 101 467 362 20 0 1205
AARS1 48 10 595 498 38 0 1189
KIF1B 0 0 563 449 52 0 1061
MFN2 118 63 450 292 57 1 968
MED25 1 0 307 308 30 0 646
GARS1 11 7 293 233 25 0 569
BSCL2, HNRNPUL2-BSCL2 22 7 192 153 13 0 387
LMNA, LOC126805877 16 14 38 31 2 0 101
KIF1B, LOC126805614 0 0 32 29 2 0 63
LMNA, LOC129931597 18 5 25 14 1 0 63
LOC129929426, MFN2 0 0 27 7 1 0 34
KIF1B, LOC129388446 0 0 12 9 0 0 21
KIF1B, LOC129388447 0 0 6 10 1 0 17
MED25, MIR6800 0 0 4 11 2 0 17
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, C1orf127, C1orf167, CASZ1, CENPS, CENPS-CORT, 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 496 207 2956 2388 221 1 6269
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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