ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as not provided for autosomal dominant complex spastic paraplegia

Included ClinVar conditions (16):

ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3
Autosomal dominant spastic paraplegia type 9
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2; Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy
Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome
Hereditary spastic paraplegia 17
Hereditary spastic paraplegia 17; Neuronopathy, distal hereditary motor, type 5C
Hereditary spastic paraplegia 9A
Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B
Hereditary spastic paraplegia 9A; Cutis laxa, autosomal dominant 3; de Barsy syndrome
Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis
Spastic paraplegia-Paget disease of bone syndrome

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:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	rs137852972	0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	rs137852973	0.00001
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)	rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)

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.