ClinVar Miner

Variants from Paris Brain Institute, Inserm - ICM

Location: France  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
396 5 46 1 0 448

Gene and significance breakdown #

Total genes and gene combinations: 52
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SPAST 102 0 14 0 116
SPG7 40 0 0 0 40
KIF1A 31 0 4 0 35
SPG11 31 0 0 0 31
KIF5A 19 0 3 0 22
SACS 22 0 0 0 22
CYP7B1 16 0 4 0 20
REEP1 13 0 4 0 17
ATL1 15 0 0 0 15
CAPN1 12 0 0 0 12
ZFYVE26 7 0 2 0 9
ALS2 8 0 0 0 8
WASHC5 7 0 1 0 8
ADGRV1 1 5 0 0 6
AP5Z1 5 0 0 1 6
CYP2U1 6 0 0 0 6
DDHD2 6 0 0 0 6
ERLIN2 6 0 0 0 6
GBA2 2 0 4 0 6
​intergenic 4 0 1 0 5
B4GALNT1 4 0 0 0 4
KIF1C 4 0 0 0 4
BICD2 1 0 2 0 3
DDHD1 3 0 0 0 3
FA2H 3 0 0 0 3
PNPLA6 3 0 0 0 3
AP4B1 2 0 0 0 2
CPT1C 0 0 2 0 2
LOC130059818, SPG7 2 0 0 0 2
MARS1 2 0 0 0 2
NIPA1 2 0 0 0 2
SETX 1 0 1 0 2
ALDH18A1 1 0 0 0 1
ARSI 0 0 1 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 0 1
CAPN1, LOC126861236 1 0 0 0 1
FA2H, LOC130059394 1 0 0 0 1
GJA1 1 0 0 0 1
HACE1 1 0 0 0 1
HSPD1 1 0 0 0 1
KCNIP1 1 0 0 0 1
LOC130056709, NIPA1 0 0 1 0 1
LOC130056973, SPG11 1 0 0 0 1
PLP1, RAB9B 1 0 0 0 1
REEP2 1 0 0 0 1
SLC19A3 0 0 1 0 1
SLC33A1 0 0 1 0 1
SPART 1 0 0 0 1
SPG21 1 0 0 0 1
TCF20 1 0 0 0 1
VCP 1 0 0 0 1
VRK1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Hereditary spastic paraplegia 4 102 0 0 0 102
Spastic paraplegia 6 0 43 0 49
Hereditary spastic paraplegia 7 42 0 0 0 42
Hereditary spastic paraplegia 11 34 0 0 0 34
Hereditary spastic paraplegia 30 28 0 0 0 28
Charlevoix-Saguenay spastic ataxia 22 0 0 0 22
Hereditary spastic paraplegia 10 19 0 1 0 20
Hereditary spastic paraplegia 31 14 0 2 0 16
Hereditary spastic paraplegia 5A 16 0 0 0 16
Hereditary spastic paraplegia 3A 15 0 0 0 15
Autosomal recessive spastic paraplegia type 76 13 0 0 0 13
Infantile-onset ascending hereditary spastic paralysis 8 0 0 0 8
Hereditary spastic paraplegia 15 7 0 0 0 7
Hereditary spastic paraplegia 8 7 0 0 0 7
Idiopathic generalized epilepsy 2 5 0 0 7
Hereditary spastic paraplegia 48 5 0 0 1 6
Hereditary spastic paraplegia 54 6 0 0 0 6
Hereditary spastic paraplegia 56 6 0 0 0 6
Hereditary spastic paraplegia 26 4 0 0 0 4
Hereditary spastic paraplegia 35 4 0 0 0 4
Spastic ataxia 2 4 0 0 0 4
Hereditary spastic paraplegia 3 0 0 0 3
Hereditary spastic paraplegia 18 3 0 0 0 3
Hereditary spastic paraplegia 28 3 0 0 0 3
Hereditary spastic paraplegia 39 3 0 0 0 3
Charcot-Marie-Tooth disease axonal type 2U 2 0 0 0 2
Hereditary spastic paraplegia 46 2 0 0 0 2
Hereditary spastic paraplegia 47 2 0 0 0 2
Hereditary spastic paraplegia 6 2 0 0 0 2
Amyotrophic lateral sclerosis type 4 1 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 1
Hereditary spastic paraplegia 13 1 0 0 0 1
Hereditary spastic paraplegia 17 1 0 0 0 1
Hereditary spastic paraplegia 2 1 0 0 0 1
Hereditary spastic paraplegia 72 1 0 0 0 1
Hereditary spastic paraplegia 9A 1 0 0 0 1
Mast syndrome 1 0 0 0 1
Oculodentodigital dysplasia 1 0 0 0 1
Pontocerebellar hypoplasia type 1A 1 0 0 0 1
Spastic paraplegia-severe developmental delay-epilepsy syndrome 1 0 0 0 1
Troyer syndrome 1 0 0 0 1

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