Variants from Inherited Neuropathy Consortium

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)
		ClinVar version:

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	total
48	28	1269	10	17	1371

Gene and significance breakdown #

Total genes and gene combinations: 81

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJB1	7	1	341	1	3	352
MPZ	11	2	157	0	1	171
MFN2	3	3	128	2	0	136
IGHMBP2	0	1	79	0	2	82
PMP22	3	0	73	0	0	76
GDAP1	3	2	48	0	0	53
SH3TC2	7	3	38	0	0	48
GAN	0	0	43	1	1	45
NTRK1	0	0	32	1	0	33
PRX	2	0	27	0	1	30
GARS1	2	1	16	1	0	20
HSPB1	2	0	16	0	0	18
NEFL	0	1	9	3	5	18
INF2	0	0	17	0	0	17
DYNC1H1	0	1	13	1	0	15
FIG4	1	0	14	0	0	15
MTMR2	0	0	12	0	3	15
FGD4	0	0	14	0	0	14
TRPV4	0	1	12	0	0	13
EGR2	0	0	11	0	0	11
LITAF	0	2	9	0	0	11
SETX	0	0	10	0	0	10
GAN, LOC130059498	0	0	9	0	0	9
DNM2	0	1	7	0	0	8
SCN11A	0	0	8	0	0	8
BICD2	3	0	3	0	1	7
SLC12A6	0	0	7	0	0	7
DCTN1	0	2	4	0	0	6
LMNA	0	0	6	0	0	6
SBF2	0	0	6	0	0	6
SPTLC1	0	0	6	0	0	6
GDAP1, LOC130000622	2	0	3	0	0	5
RAB7A	0	0	5	0	0	5
WNK1	0	0	5	0	0	5
DNMT1	0	0	4	0	0	4
HINT1	0	0	4	0	0	4
LOC130064454, PRX	1	0	3	0	0	4
LRSAM1	0	0	4	0	0	4
RETREG1	0	0	4	0	0	4
AARS1	0	0	3	0	0	3
DNAJB2	0	0	3	0	0	3
DST	0	1	2	0	0	3
ELP1	0	0	3	0	0	3
IGHMBP2, LOC126861245	0	0	3	0	0	3
NGF	0	0	3	0	0	3
REEP1	0	0	3	0	0	3
ARF1, LOC126806039	0	0	2	0	0	2
ARHGEF10	0	0	2	0	0	2
ATL1	0	0	2	0	0	2
ATP7A	0	0	2	0	0	2
BSCL2, HNRNPUL2-BSCL2	0	1	1	0	0	2
HSPB8	0	0	2	0	0	2
KARS1	0	0	2	0	0	2
PLEKHG5	0	1	1	0	0	2
POLG	0	0	2	0	0	2
POLR2F, SOX10	0	0	2	0	0	2
SCN1A, SCN9A	0	0	2	0	0	2
SLC25A46	0	2	0	0	0	2
VRK1	0	0	2	0	0	2
YARS1	0	0	2	0	0	2
AIFM1, RAB33A	0	0	1	0	0	1
ATL3	0	0	1	0	0	1
CTDP1	1	0	0	0	0	1
FBXO38	0	1	0	0	0	1
HADHB	0	0	1	0	0	1
IFRD1	0	0	1	0	0	1
IGHMBP2, LOC130006272, LOC130006273	0	0	1	0	0	1
LMNA, LOC129931597	0	0	1	0	0	1
LOC105369149, SBF2	0	0	1	0	0	1
LOC129390683, SLC12A6	0	0	1	0	0	1
LOC129929426, MFN2	0	0	1	0	0	1
LOC129993734, RETREG1	0	0	1	0	0	1
MORC2	0	0	1	0	0	1
MPZ, SDHC	0	0	1	0	0	1
MT-ATP6	0	0	1	0	0	1
NDRG1	0	0	1	0	0	1
PLD3, PRX	0	0	1	0	0	1
SBF1	0	0	1	0	0	1
SLC5A7	0	0	1	0	0	1
SPTLC2	0	0	1	0	0	1
TFG	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 13

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Charcot-Marie-Tooth disease	45	18	1049	4	1	1117
Neuronopathy, distal hereditary motor, autosomal dominant	3	0	55	0	1	59
Giant axonal neuropathy 1	0	0	50	1	0	51
Distal spinal muscular atrophy	0	1	45	1	0	47
not specified	0	0	19	3	15	37
Dejerine-Sottas disease	0	0	34	0	0	34
Hereditary motor neuron disease	0	5	8	0	0	13
not provided	0	1	7	1	0	9
Hereditary liability to pressure palsies	0	0	6	0	0	6
Hereditary sensory and autonomic neuropathy	0	0	2	0	0	2
Hereditary spastic paraplegia	0	2	0	0	0	2
Charcot-Marie-Tooth disease X-linked recessive 4	0	0	1	0	0	1
Neuropathy, hereditary motor and sensory, type 6B	0	1	0	0	0	1

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