ClinVar Miner

List of variants reported as uncertain significance for hereditary sensory and autonomic neuropathy type 2 by Baylor Genetics

Included ClinVar conditions (19):

Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Hereditary sensory and autonomic neuropathy type 2
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9; Spastic paraplegia 30b, autosomal recessive
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7
Neuropathy, hereditary sensory and autonomic, type 2A; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9
Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C
Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory, type 2C
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Generalized epilepsy with febrile seizures plus
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_213655.5(WNK1):c.2362C>T (p.Arg788Cys)	rs72649848	0.00173
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	rs200945460	0.00019
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)	rs377073379	0.00011
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)	rs377032453	0.00006
NM_018979.4(WNK1):c.4739C>T (p.Pro1580Leu)	rs1298761421	0.00001
NM_001034850.3(RETREG1):c.22G>C (p.Glu8Gln)	rs759050645
NM_001034850.3(RETREG1):c.55G>T (p.Ala19Ser)	rs1399809860
NM_001244008.2(KIF1A):c.2022+3G>A	rs566702367
NM_001244008.2(KIF1A):c.2445-3del
NM_001244008.2(KIF1A):c.364-3C>A	rs2055065906
NM_001244008.2(KIF1A):c.4753A>T (p.Met1585Leu)	rs1203273192
NM_018979.4(WNK1):c.2267A>C (p.Gln756Pro)	rs776731718

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.