List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Inherited Neuropathy Consortium

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)	rs1064793139
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)	rs121909090
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)	rs141862602
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)	rs1324125372
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)	rs1383117534
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)	rs192443850
NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile)	rs200834352
NM_006070.6(TFG):c.826T>C (p.Tyr276His)	rs1559726842
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)	rs927119938
NM_014874.3(MFN2):c.572T>C (p.Leu191Pro)	rs879254288
NM_014874.4(MFN2):c.272T>G (p.Val91Gly)	rs1569816262
NM_015548.5(DST):c.3319-2694A>G	rs373440035
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)	rs104894077
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)	rs121908114
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	rs80338934
NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser)	rs772536764
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)	rs1390567933
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)	rs142117467

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.