Variants studied for Charcot-Marie-Tooth disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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	not provided	total
122	98	1921	842	325	9	3245

Gene and significance breakdown #

Total genes and gene combinations: 119

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GJB1	19	8	361	10	4	0	387
MFN2	7	6	173	35	11	0	225
SH3TC2	12	7	121	55	14	0	203
PRX	6	3	115	62	16	0	200
MPZ	19	11	163	7	2	0	195
DYNC1H1	0	3	30	105	44	1	182
IGHMBP2	1	4	71	45	26	0	145
TRPV4	3	1	49	47	23	0	122
KIF1B	0	1	45	41	30	0	116
FIG4	3	2	40	37	15	0	96
PMP22	6	7	62	9	2	0	84
GDAP1	5	3	57	9	4	6	76
LRSAM1	2	6	31	27	11	0	76
SBF2	0	1	35	30	8	0	74
GARS1	3	1	26	29	13	0	70
MED25	0	0	20	39	11	0	70
MARS1	0	0	31	25	8	0	64
LMNA	2	3	22	25	7	0	58
NEFL	5	4	32	15	2	0	57
FGD4	0	0	24	17	12	0	53
MTMR2	0	0	24	17	8	0	49
HSPB1	8	2	28	13	1	0	48
NDRG1	1	0	18	20	3	0	42
SPTLC1	2	0	20	9	7	0	37
AARS1	1	0	32	1	0	0	33
LITAF	2	2	23	5	4	0	33
EGR2	0	0	16	14	1	0	30
NTRK1	0	0	29	1	0	0	30
TTR	5	2	7	10	5	0	29
DNAJB2	0	0	7	14	3	0	24
LOC101928008, SBF2	0	0	7	8	6	0	21
LOC105369149, SBF2	0	0	6	12	2	0	20
AIFM1, RAB33A	0	0	4	8	6	0	18
INF2	0	0	17	0	0	0	17
SEPTIN9	0	0	16	0	0	0	16
RAB7A	0	0	7	6	2	0	15
GDAP1, LOC130000622	2	1	5	4	1	0	13
DNM2	0	2	8	0	0	0	10
IGHMBP2, LOC126861245	0	0	3	5	2	0	10
LOC130064454, PRX	3	2	5	0	0	0	10
PDK3	0	0	4	5	1	0	10
LOC126860531, NDRG1	0	0	2	5	2	0	9
MORC2	0	0	9	0	0	0	9
SCN11A	0	0	8	1	0	0	9
SETX	0	0	8	0	0	0	8
SLC12A6	0	0	8	0	0	0	8
DYNC1H1, LOC126862060	0	0	1	4	1	0	6
WNK1	0	0	5	0	0	0	5
DCTN1	0	1	3	0	0	0	4
DNMT1	0	0	4	0	0	0	4
DRP2	1	0	0	0	1	2	4
GAN	0	0	4	0	0	0	4
HINT1	0	0	4	0	0	0	4
HSPB8	0	0	4	0	0	0	4
KIF1B, LOC126805614	0	0	2	2	0	0	4
LOC126860330, NEFL	0	0	2	2	0	0	4
RETREG1	0	0	4	0	0	0	4
ARHGEF10	0	1	2	0	0	0	3
ELP1	0	0	3	0	0	0	3
NGF	0	0	3	0	0	0	3
REEP1	0	0	3	0	0	0	3
ARF1, LOC126806039	0	0	2	0	0	0	2
ATL1	0	0	2	0	0	0	2
ATP7A	0	0	2	0	0	0	2
BICD2	0	0	2	0	0	0	2
BSCL2, HNRNPUL2-BSCL2	0	1	1	0	0	0	2
DST	0	1	1	0	0	0	2
KARS1	0	0	2	0	0	0	2
KIF1B, LOC129388446	0	0	1	1	0	0	2
LMNA, LOC126805877	0	0	0	1	1	0	2
LMNA, LOC129931597	0	0	1	0	1	0	2
LOC129929426, MFN2	0	0	1	1	0	0	2
MIR6841, NEFL	0	0	0	1	1	0	2
PLD3, PRX	0	1	2	0	1	0	2
POLG	0	0	2	0	0	0	2
POLR2F, SOX10	0	0	2	0	0	0	2
SACS	0	2	0	0	0	0	2
SBF1	0	2	1	0	0	0	2
SCN1A, SCN9A	0	0	2	0	0	0	2
YARS1	0	0	2	0	0	0	2
AIFM1, LOC130068679, RAB33A	0	0	0	1	0	0	1
ARHGEF10, LOC126860281	0	0	1	0	0	0	1
CNTNAP2	0	0	1	0	0	0	1
COL6A2	0	0	1	0	0	0	1
CTDP1	1	0	0	0	0	0	1
DCTN2	0	0	1	0	0	0	1
DHX9	0	1	0	0	0	0	1
FBXO38	0	1	0	0	0	0	1
GABRG2	0	0	1	0	0	0	1
GAN, LOC130059498	0	0	1	0	0	0	1
GLA, RPL36A-HNRNPH2	0	0	1	0	0	0	1
GNB4	0	0	1	0	0	0	1
HADHB	0	0	1	0	0	0	1
HARS1	0	0	1	0	0	0	1
IFRD1	0	0	1	0	0	0	1
KIF1B, LOC129388447	0	0	1	0	0	0	1
KIF5A	0	1	0	0	0	0	1
LAMA2	0	1	0	0	0	0	1
LOC112872299, RAB7A	0	0	0	1	0	0	1
LOC126805598, PLEKHG5	1	0	0	0	0	0	1
LOC126805688, YARS1	0	0	1	0	0	0	1
LOC126862651, SEPTIN9	0	0	1	0	0	0	1
LOC129390683, SLC12A6	0	0	1	0	0	0	1
LOC129993734, RETREG1	0	0	1	0	0	0	1
MED25, MIR6800	0	0	0	1	0	0	1
MME	0	0	1	0	0	0	1
MPZ, SDHC	0	0	1	0	0	0	1
MT-ATP6	1	0	0	0	0	0	1
MYH14	0	0	1	0	0	0	1
NAGLU	1	0	0	0	0	0	1
PTCH1	0	0	1	0	0	0	1
SEMA5A	0	0	1	0	0	0	1
SHANK3	0	0	0	0	1	0	1
SLC25A46	0	1	0	0	0	0	1
SLC5A7	0	0	1	0	0	0	1
SPG11	0	1	0	0	0	0	1
SPTLC2	0	0	1	0	0	0	1
SYP	0	0	0	0	1	0	1
TFG	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Molecular Genetics Laboratory, London Health Sciences Centre	62	59	638	833	317	0	1909
Inherited Neuropathy Consortium	45	18	1049	4	1	0	1117
Genesis Genome Database	0	0	207	0	0	0	207
Natera, Inc.	7	1	26	5	3	0	42
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	4	6	17	0	1	0	27
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	1	5	5	2	2	0	15
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	8	1	0	0	10
Molecular Genetics, Royal Melbourne Hospital	0	1	6	0	1	0	8
GeneReviews	1	0	0	0	0	6	7
Dubai Health Genomic Medicine Center, Dubai Health	2	3	0	0	0	0	5
Illumina Laboratory Services, Illumina	1	0	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	1	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	0	2
CSER _CC_NCGL, University of Washington	0	0	1	0	0	0	1
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	0	0	0	0	1	1
Clinical Genetics Laboratory, Region Ostergotland	0	1	0	0	0	0	1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital	1	0	0	0	0	0	1
Department of Human Genetics, University Hospital Magdeburg	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	1	0	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	0	1
Payam Genetics Center, General Welfare Department of North Khorasan Province	1	0	0	0	0	0	1

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