Variants studied for Peripheral neuropathy

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
9	28	86	48	22	193

Gene and significance breakdown #

Total genes and gene combinations: 48

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FLRT1, MACROD1	0	0	52	48	22	122
GJB1	2	3	0	0	0	5
NEFL	1	1	2	0	0	4
GDAP1	0	3	0	0	0	3
MFN2	0	1	2	0	0	3
MME	0	2	1	0	0	3
MPZ	0	3	0	0	0	3
DNM2	0	0	2	0	0	2
HINT1	1	1	0	0	0	2
IGHMBP2	1	1	0	0	0	2
MCM3AP	0	0	2	0	0	2
NEFH	0	0	2	0	0	2
PMP2	0	2	0	0	0	2
PRX	0	1	1	0	0	2
SBF1	0	0	2	0	0	2
SLC12A6	0	2	0	0	0	2
AARS1	0	1	0	0	0	1
AIFM1, RAB33A	0	0	1	0	0	1
AP4E1	0	0	1	0	0	1
BAG3	1	0	0	0	0	1
BSCL2, HNRNPUL2-BSCL2	1	0	0	0	0	1
CHRNG	0	1	0	0	0	1
COX6A1	0	1	0	0	0	1
DCTN1	0	0	1	0	0	1
DHTKD1	0	0	1	0	0	1
DYNC1H1	1	0	0	0	0	1
DYSF	0	0	1	0	0	1
GAN	0	1	0	0	0	1
HARS1	0	1	0	0	0	1
HSPB8	0	0	1	0	0	1
KCNJ10	0	0	1	0	0	1
KIF24	0	0	1	0	0	1
KIF5A	0	1	0	0	0	1
KIFBP	0	0	1	0	0	1
LMNA	0	0	1	0	0	1
LOC105369149, SBF2	0	0	1	0	0	1
MKS1	0	0	1	0	0	1
MYBPC3	0	0	1	0	0	1
NEB	0	0	1	0	0	1
NEB, RIF1	0	0	1	0	0	1
NGF	1	0	0	0	0	1
PHKA1	0	0	1	0	0	1
PLEKHG5	0	0	1	0	0	1
PMP22	0	1	0	0	0	1
PNPLA6	0	0	1	0	0	1
SH3TC2	0	1	0	0	0	1
SPTAN1	0	0	1	0	0	1
WNK1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	52	48	22	122
Kariminejad - Najmabadi Pathology & Genetics Center	8	17	1	0	0	26
Institute of Human Genetics, University of Wuerzburg	0	6	18	0	0	24
Claritas Genomics	0	1	12	0	0	13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	1	0	0	2
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	0	2	0	0	0	2
Genetic Services Laboratory, University of Chicago	0	0	1	0	0	1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique	0	1	0	0	0	1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	0	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	1

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