ClinVar Miner

List of variants studied for autosomal dominant complex spastic paraplegia by OMIM

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
		ClinVar version:

Total variants: 10

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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_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)	rs766264810
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	rs863224945
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)	rs864321669
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	rs864321670
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter)	rs1057519300
NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter)	rs1057519301
NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs)	rs2147945425
NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs)	rs1057519302

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