SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) - Rat Genome Database

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Gene: SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) Homo sapiens
Analyze
Symbol: SPG7
Name: SPG7 matrix AAA peptidase subunit, paraplegin
RGD ID: 32716488
HGNC Page HGNC:11237
Description: Enables metalloendopeptidase activity. Involved in mitochondrial outer membrane permeabilization involved in programmed cell death. Part of mitochondrial permeability transition pore complex. Implicated in hereditary spastic paraplegia 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAR; cell matrix adhesion regulator; CMAR; paraplegin; paraplegin, isoform 1; PGN; spastic paraplegia 7 (pure and complicated autosomal recessive); spastic paraplegia 7 protein; SPG5C; SPG7, paraplegin matrix AAA peptidase subunit
RGD Orthologs
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,508,388 - 89,557,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1689,490,719 - 89,557,766 (+)EnsemblGRCh38hg38GRCh38
GRCh371689,574,796 - 89,624,176 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map16q24.3NCBI
HuRef1675,270,019 - 75,319,275 (+)NCBIHuRef
CHM1_11690,986,085 - 91,035,445 (+)NCBICHM1_1
T2T-CHM13v2.01695,589,029 - 95,638,316 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormal mitochondrial morphology  (IAGP)
Abnormal upper motor neuron morphology  (IAGP)
Adult onset  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral palsy  (IAGP)
Cervical spinal cord atrophy  (IAGP)
Degeneration of the lateral corticospinal tracts  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
EMG: chronic denervation signs  (IAGP)
Gait ataxia  (IAGP)
Generalized hyperreflexia  (IAGP)
Hearing impairment  (IAGP)
Hyperreflexia  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Intellectual disability  (IAGP)
Loss of speech  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb hypertonia  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb pain  (IAGP)
Lower limb spasticity  (IAGP)
Memory impairment  (IAGP)
Motor axonal neuropathy  (IAGP)
Muscle stiffness  (IAGP)
Nasal speech  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pes cavus  (IAGP)
Polyneuropathy  (IAGP)
Postural instability  (IAGP)
Progressive spastic paraparesis  (IAGP)
Proximal spinal muscular atrophy  (IAGP)
Pseudobulbar signs  (IAGP)
Ragged-red muscle fibers  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Slowed slurred speech  (IAGP)
Slurred speech  (IAGP)
Spastic ataxia  (IAGP)
Spastic dysarthria  (IAGP)
Spastic gait  (IAGP)
Spastic paraparesis  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraparesis  (IAGP)
Specific learning disability  (IAGP)
Supranuclear gaze palsy  (IAGP)
Upper limb hypertonia  (IAGP)
Upper limb muscle weakness  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Vertical supranuclear gaze palsy  (IAGP)
Waddling gait  (IAGP)
References
Additional References at PubMed
PMID:1560826   PMID:7993411   PMID:8098008   PMID:8429914   PMID:9405655   PMID:9634528   PMID:9635427   PMID:10480368   PMID:12477932   PMID:14506940   PMID:14623864   PMID:14702039  
PMID:15489334   PMID:16169070   PMID:16189514   PMID:16344560   PMID:16357941   PMID:16534102   PMID:17420921   PMID:17646629   PMID:18200586   PMID:18563470   PMID:18799786   PMID:18854154  
PMID:19289403   PMID:19748354   PMID:19841671   PMID:20108356   PMID:20186691   PMID:20301286   PMID:20301317   PMID:20301682   PMID:20579626   PMID:20877624   PMID:21516116   PMID:21873635  
PMID:21900206   PMID:21988832   PMID:22266886   PMID:22554690   PMID:22563492   PMID:22571692   PMID:22939629   PMID:22964162   PMID:23065789   PMID:23269439   PMID:23857099   PMID:24727571  
PMID:24767997   PMID:25416956   PMID:25681447   PMID:26186194   PMID:26260707   PMID:26387735   PMID:26496610   PMID:26506339   PMID:26626314   PMID:26756429   PMID:27084228   PMID:27499296  
PMID:28298427   PMID:28444220   PMID:28514442   PMID:29298432   PMID:29509190   PMID:30098094   PMID:30252181   PMID:30480076   PMID:30747022   PMID:31044621   PMID:31068484   PMID:31091453  
PMID:31117107   PMID:31586073   PMID:31640799   PMID:31871319   PMID:32002796   PMID:32296183   PMID:32447552   PMID:32513696   PMID:33045469   PMID:33774748   PMID:33961781   PMID:34500365  
PMID:35637455  


Genomics

Comparative Map Data
SPG7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,508,388 - 89,557,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1689,490,719 - 89,557,766 (+)EnsemblGRCh38hg38GRCh38
GRCh371689,574,796 - 89,624,176 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map16q24.3NCBI
HuRef1675,270,019 - 75,319,275 (+)NCBIHuRef
CHM1_11690,986,085 - 91,035,445 (+)NCBICHM1_1
T2T-CHM13v2.01695,589,029 - 95,638,316 (+)NCBIT2T-CHM13v2.0
SPG7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6414,932 - 439,212 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16414,930 - 439,206 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26732,756 - 741,695 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in SPG7
589 total Variants

Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW250773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI827568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA447374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA770435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB482451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY006239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S54769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268704   ⟹   ENSP00000268704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,410 - 89,557,744 (+)Ensembl
RefSeq Acc Id: ENST00000341316   ⟹   ENSP00000341157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,411 - 89,537,721 (+)Ensembl
RefSeq Acc Id: ENST00000561702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,548,159 - 89,557,762 (+)Ensembl
RefSeq Acc Id: ENST00000561911   ⟹   ENSP00000457387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,546,664 - 89,557,130 (+)Ensembl
RefSeq Acc Id: ENST00000561945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,530,677 - 89,546,181 (+)Ensembl
RefSeq Acc Id: ENST00000562775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,554 - 89,527,380 (+)Ensembl
RefSeq Acc Id: ENST00000563218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,546,150 - 89,548,367 (+)Ensembl
RefSeq Acc Id: ENST00000563783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,491,187 - 89,498,685 (+)Ensembl
RefSeq Acc Id: ENST00000564047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,409 - 89,531,602 (+)Ensembl
RefSeq Acc Id: ENST00000564409   ⟹   ENSP00000495297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,510,538 - 89,532,570 (+)Ensembl
RefSeq Acc Id: ENST00000565370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,548,889 - 89,553,100 (+)Ensembl
RefSeq Acc Id: ENST00000565891   ⟹   ENSP00000495004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,554,486 - 89,557,488 (+)Ensembl
RefSeq Acc Id: ENST00000566221   ⟹   ENSP00000457298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,544,726 - 89,553,079 (+)Ensembl
RefSeq Acc Id: ENST00000566371   ⟹   ENSP00000454475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,394 - 89,530,780 (+)Ensembl
RefSeq Acc Id: ENST00000566682   ⟹   ENSP00000461979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,531,904 - 89,554,662 (+)Ensembl
RefSeq Acc Id: ENST00000567138   ⟹   ENSP00000483351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,532,020 - 89,533,791 (+)Ensembl
RefSeq Acc Id: ENST00000568151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,713 - 89,524,077 (+)Ensembl
RefSeq Acc Id: ENST00000568205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,550,536 - 89,553,367 (+)Ensembl
RefSeq Acc Id: ENST00000568509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,490,955 - 89,499,285 (+)Ensembl
RefSeq Acc Id: ENST00000569363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,514,571 (+)Ensembl
RefSeq Acc Id: ENST00000569720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,552,517 - 89,557,425 (+)Ensembl
RefSeq Acc Id: ENST00000569820   ⟹   ENSP00000454805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,544,648 - 89,557,745 (+)Ensembl
RefSeq Acc Id: ENST00000611189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,516,797 - 89,522,219 (+)Ensembl
RefSeq Acc Id: ENST00000642226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,690 - 89,557,752 (+)Ensembl
RefSeq Acc Id: ENST00000642263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,532,562 - 89,547,635 (+)Ensembl
RefSeq Acc Id: ENST00000642334   ⟹   ENSP00000496403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,545 - 89,557,387 (+)Ensembl
RefSeq Acc Id: ENST00000642371   ⟹   ENSP00000495352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,486 - 89,532,522 (+)Ensembl
RefSeq Acc Id: ENST00000642427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,524,230 - 89,548,367 (+)Ensembl
RefSeq Acc Id: ENST00000642436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,406 - 89,540,977 (+)Ensembl
RefSeq Acc Id: ENST00000642814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,540,632 - 89,557,535 (+)Ensembl
RefSeq Acc Id: ENST00000642984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,728 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000643105   ⟹   ENSP00000495260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,498 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000643178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,513,014 - 89,532,040 (+)Ensembl
RefSeq Acc Id: ENST00000643307   ⟹   ENSP00000495673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,393 - 89,537,226 (+)Ensembl
RefSeq Acc Id: ENST00000643345   ⟹   ENSP00000493982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,410 - 89,546,075 (+)Ensembl
RefSeq Acc Id: ENST00000643350
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,541,213 - 89,557,766 (+)Ensembl
RefSeq Acc Id: ENST00000643370   ⟹   ENSP00000494895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,526,374 - 89,546,760 (+)Ensembl
RefSeq Acc Id: ENST00000643409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,685 - 89,557,755 (+)Ensembl
RefSeq Acc Id: ENST00000643496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,523,813 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000643649   ⟹   ENSP00000494806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,367 - 89,557,272 (+)Ensembl
RefSeq Acc Id: ENST00000643668   ⟹   ENSP00000494903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,401 - 89,557,750 (+)Ensembl
RefSeq Acc Id: ENST00000643724   ⟹   ENSP00000496335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000643734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,537,148 - 89,548,291 (+)Ensembl
RefSeq Acc Id: ENST00000643954   ⟹   ENSP00000493826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,510,569 - 89,557,744 (+)Ensembl
RefSeq Acc Id: ENST00000643957   ⟹   ENSP00000494246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,535 - 89,529,493 (+)Ensembl
RefSeq Acc Id: ENST00000644044   ⟹   ENSP00000494000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,532,535 - 89,544,745 (+)Ensembl
RefSeq Acc Id: ENST00000644061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,541,103 - 89,548,018 (+)Ensembl
RefSeq Acc Id: ENST00000644171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,530,943 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000644210   ⟹   ENSP00000495675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,409 - 89,557,405 (+)Ensembl
RefSeq Acc Id: ENST00000644225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,401 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000644281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,551,174 - 89,557,749 (+)Ensembl
RefSeq Acc Id: ENST00000644464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,546,556 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000644498   ⟹   ENSP00000496244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,395 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000644556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,532,581 - 89,548,364 (+)Ensembl
RefSeq Acc Id: ENST00000644671   ⟹   ENSP00000495999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,512,999 - 89,557,737 (+)Ensembl
RefSeq Acc Id: ENST00000644748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,522,199 - 89,548,261 (+)Ensembl
RefSeq Acc Id: ENST00000644751   ⟹   ENSP00000493934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,524,228 - 89,557,750 (+)Ensembl
RefSeq Acc Id: ENST00000644781   ⟹   ENSP00000495473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000644901   ⟹   ENSP00000493797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000644930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,542,984 - 89,548,293 (+)Ensembl
RefSeq Acc Id: ENST00000645042   ⟹   ENSP00000493908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000645063   ⟹   ENSP00000493590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,748 (+)Ensembl
RefSeq Acc Id: ENST00000645258   ⟹   ENSP00000496510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,531,986 - 89,546,175 (+)Ensembl
RefSeq Acc Id: ENST00000645354   ⟹   ENSP00000494158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,503 - 89,554,544 (+)Ensembl
RefSeq Acc Id: ENST00000645392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,542,983 - 89,557,748 (+)Ensembl
RefSeq Acc Id: ENST00000645533   ⟹   ENSP00000495690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,411 - 89,531,985 (+)Ensembl
RefSeq Acc Id: ENST00000645742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,545,963 - 89,557,748 (+)Ensembl
RefSeq Acc Id: ENST00000645818   ⟹   ENSP00000495795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,766 (+)Ensembl
RefSeq Acc Id: ENST00000645842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,536,951 - 89,557,602 (+)Ensembl
RefSeq Acc Id: ENST00000645886   ⟹   ENSP00000494111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,529,492 - 89,557,737 (+)Ensembl
RefSeq Acc Id: ENST00000645897   ⟹   ENSP00000495293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,397 - 89,557,739 (+)Ensembl
RefSeq Acc Id: ENST00000645944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,860 - 89,549,432 (+)Ensembl
RefSeq Acc Id: ENST00000645952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,769 - 89,557,343 (+)Ensembl
RefSeq Acc Id: ENST00000645977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,755 (+)Ensembl
RefSeq Acc Id: ENST00000646005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,690 - 89,557,743 (+)Ensembl
RefSeq Acc Id: ENST00000646263   ⟹   ENSP00000494119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,748 (+)Ensembl
RefSeq Acc Id: ENST00000646303   ⟹   ENSP00000494160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,507,502 - 89,557,748 (+)Ensembl
RefSeq Acc Id: ENST00000646399   ⟹   ENSP00000495734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,512,979 - 89,557,685 (+)Ensembl
RefSeq Acc Id: ENST00000646445   ⟹   ENSP00000496434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,510,501 - 89,557,737 (+)Ensembl
RefSeq Acc Id: ENST00000646454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,530,248 - 89,548,249 (+)Ensembl
RefSeq Acc Id: ENST00000646531   ⟹   ENSP00000495185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000646543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,979 - 89,548,322 (+)Ensembl
RefSeq Acc Id: ENST00000646589   ⟹   ENSP00000494739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,410 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000646707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,490,719 - 89,498,685 (+)Ensembl
RefSeq Acc Id: ENST00000646716   ⟹   ENSP00000495593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,410 - 89,557,701 (+)Ensembl
RefSeq Acc Id: ENST00000646826   ⟹   ENSP00000495123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,410 - 89,557,737 (+)Ensembl
RefSeq Acc Id: ENST00000646930   ⟹   ENSP00000495219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,403 - 89,557,690 (+)Ensembl
RefSeq Acc Id: ENST00000646958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,468 - 89,548,336 (+)Ensembl
RefSeq Acc Id: ENST00000647032   ⟹   ENSP00000496047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,524,015 - 89,557,718 (+)Ensembl
RefSeq Acc Id: ENST00000647079   ⟹   ENSP00000495967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,490,917 - 89,557,748 (+)Ensembl
RefSeq Acc Id: ENST00000647123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,576 - 89,557,739 (+)Ensembl
RefSeq Acc Id: ENST00000647227   ⟹   ENSP00000495783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,508,552 - 89,557,737 (+)Ensembl
RefSeq Acc Id: ENST00000647239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,490,915 - 89,498,685 (+)Ensembl
RefSeq Acc Id: ENST00000647302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,542,984 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000647476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,549,944 - 89,557,747 (+)Ensembl
RefSeq Acc Id: ENST00000647491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,543,739 - 89,557,749 (+)Ensembl
RefSeq Acc Id: NM_001363850   ⟹   NP_001350779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,388 - 89,557,768 (+)NCBI
T2T-CHM13v2.01695,589,029 - 95,638,316 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003119   ⟹   NP_003110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,403 - 89,557,766 (+)NCBI
T2T-CHM13v2.01695,589,044 - 95,638,314 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199367   ⟹   NP_955399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,403 - 89,537,721 (+)NCBI
T2T-CHM13v2.01695,589,044 - 95,618,317 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005256321   ⟹   XP_005256378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,388 - 89,542,279 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023598   ⟹   XP_016879087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,388 - 89,548,782 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434537   ⟹   XP_047290493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,526,393 - 89,557,768 (+)NCBI
RefSeq Acc Id: XM_047434538   ⟹   XP_047290494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,388 - 89,546,176 (+)NCBI
RefSeq Acc Id: XM_047434539   ⟹   XP_047290495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,388 - 89,542,279 (+)NCBI
RefSeq Acc Id: XM_047434540   ⟹   XP_047290496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,540,944 - 89,557,768 (+)NCBI
Reference Sequences
RefSeq Acc Id: XP_016879087   ⟸   XM_017023598
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005256378   ⟸   XM_005256321
- Peptide Label: isoform X5
- UniProtKB: A0A2R8Y632 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350779   ⟸   NM_001363850
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y3M4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_003110   ⟸   NM_003119
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96IB0 (UniProtKB/Swiss-Prot),   Q9UQ90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_955399   ⟸   NM_199367
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9UQ90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000454805   ⟸   ENST00000569820
RefSeq Acc Id: ENSP00000268704   ⟸   ENST00000268704
RefSeq Acc Id: ENSP00000457387   ⟸   ENST00000561911
RefSeq Acc Id: ENSP00000496403   ⟸   ENST00000642334
RefSeq Acc Id: ENSP00000495352   ⟸   ENST00000642371
RefSeq Acc Id: ENSP00000495297   ⟸   ENST00000564409
RefSeq Acc Id: ENSP00000494895   ⟸   ENST00000643370
RefSeq Acc Id: ENSP00000495673   ⟸   ENST00000643307
RefSeq Acc Id: ENSP00000493982   ⟸   ENST00000643345
RefSeq Acc Id: ENSP00000495260   ⟸   ENST00000643105
RefSeq Acc Id: ENSP00000496335   ⟸   ENST00000643724
RefSeq Acc Id: ENSP00000494903   ⟸   ENST00000643668
RefSeq Acc Id: ENSP00000494806   ⟸   ENST00000643649
RefSeq Acc Id: ENSP00000494246   ⟸   ENST00000643957
RefSeq Acc Id: ENSP00000493826   ⟸   ENST00000643954
RefSeq Acc Id: ENSP00000495999   ⟸   ENST00000644671
RefSeq Acc Id: ENSP00000496244   ⟸   ENST00000644498
RefSeq Acc Id: ENSP00000341157   ⟸   ENST00000341316
RefSeq Acc Id: ENSP00000493797   ⟸   ENST00000644901
RefSeq Acc Id: ENSP00000493934   ⟸   ENST00000644751
RefSeq Acc Id: ENSP00000495473   ⟸   ENST00000644781
RefSeq Acc Id: ENSP00000495004   ⟸   ENST00000565891
RefSeq Acc Id: ENSP00000495675   ⟸   ENST00000644210
RefSeq Acc Id: ENSP00000494000   ⟸   ENST00000644044
RefSeq Acc Id: ENSP00000461979   ⟸   ENST00000566682
RefSeq Acc Id: ENSP00000454475   ⟸   ENST00000566371
RefSeq Acc Id: ENSP00000457298   ⟸   ENST00000566221
RefSeq Acc Id: ENSP00000495795   ⟸   ENST00000645818
RefSeq Acc Id: ENSP00000495293   ⟸   ENST00000645897
RefSeq Acc Id: ENSP00000494111   ⟸   ENST00000645886
RefSeq Acc Id: ENSP00000493590   ⟸   ENST00000645063
RefSeq Acc Id: ENSP00000493908   ⟸   ENST00000645042
RefSeq Acc Id: ENSP00000495690   ⟸   ENST00000645533
RefSeq Acc Id: ENSP00000494158   ⟸   ENST00000645354
RefSeq Acc Id: ENSP00000496510   ⟸   ENST00000645258
RefSeq Acc Id: ENSP00000483351   ⟸   ENST00000567138
RefSeq Acc Id: ENSP00000495219   ⟸   ENST00000646930
RefSeq Acc Id: ENSP00000496434   ⟸   ENST00000646445
RefSeq Acc Id: ENSP00000494160   ⟸   ENST00000646303
RefSeq Acc Id: ENSP00000495734   ⟸   ENST00000646399
RefSeq Acc Id: ENSP00000494119   ⟸   ENST00000646263
RefSeq Acc Id: ENSP00000495123   ⟸   ENST00000646826
RefSeq Acc Id: ENSP00000495593   ⟸   ENST00000646716
RefSeq Acc Id: ENSP00000495185   ⟸   ENST00000646531
RefSeq Acc Id: ENSP00000494739   ⟸   ENST00000646589
RefSeq Acc Id: ENSP00000495783   ⟸   ENST00000647227
RefSeq Acc Id: ENSP00000495967   ⟸   ENST00000647079
RefSeq Acc Id: ENSP00000496047   ⟸   ENST00000647032
RefSeq Acc Id: XP_047290494   ⟸   XM_047434538
- Peptide Label: isoform X3
- UniProtKB: A0A2R8YFJ7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047290495   ⟸   XM_047434539
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290493   ⟸   XM_047434537
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290496   ⟸   XM_047434540
- Peptide Label: isoform X6
Protein Domains
AAA   AAA_lid_3   ATPase_AAA_core   FtsH_ext   Peptidase_M41

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UQ90-F1-model_v2 AlphaFold Q9UQ90 1-795 view protein structure

Promoters
RGD ID:7233159
Promoter ID:EPDNEW_H22325
Type:multiple initiation site
Name:SPG7_1
Description:SPG7, paraplegin matrix AAA peptidase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,508,404 - 89,508,464EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003119.4(SPG7):c.1635C>T (p.Phe545=) single nucleotide variant not provided [RCV001310350] Chr16:89548085 [GRCh38]
Chr16:89614493 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1998del (p.Met667fs) deletion not provided [RCV001310351] Chr16:89553853 [GRCh38]
Chr16:89620261 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001348056] Chr16:89524158 [GRCh38]
Chr16:89590566 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1435C>T (p.Leu479Phe) single nucleotide variant not provided [RCV000488053] Chr16:89544758 [GRCh38]
Chr16:89611166 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1553-2A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV000698570]|not provided [RCV001091057] Chr16:89548001 [GRCh38]
Chr16:89614409 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.987+151T>C single nucleotide variant not provided [RCV001567131] Chr16:89530959 [GRCh38]
Chr16:89597367 [GRCh37]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q24.3(chr16:89217281-89536982)x1 copy number loss See cases [RCV000142602] Chr16:89217281..89536982 [GRCh38]
Chr16:89283689..89603390 [GRCh37]
Chr16:87811190..88130891 [NCBI36]
Chr16:16q24.3
pathogenic|benign
NM_003119.4(SPG7):c.987+216A>G single nucleotide variant not provided [RCV000839745] Chr16:89531024 [GRCh38]
Chr16:89597432 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) microsatellite Hereditary spastic paraplegia 7 [RCV000704426]|Hereditary spastic paraplegia [RCV001849069]|not provided [RCV000761967] Chr16:89508424..89508425 [GRCh38]
Chr16:89574832..89574833 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.141G>A (p.Arg47=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000295035] Chr16:89508558 [GRCh38]
Chr16:89574966 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000473038]|not provided [RCV000725649] Chr16:89524213 [GRCh38]
Chr16:89590621 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val) single nucleotide variant not provided [RCV000498245] Chr16:89556887 [GRCh38]
Chr16:89623295 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) single nucleotide variant Hereditary spastic paraplegia [RCV000515979]|not provided [RCV000518245] Chr16:89513037 [GRCh38]
Chr16:89579445 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.2182-283G>A single nucleotide variant not provided [RCV001547925] Chr16:89556604 [GRCh38]
Chr16:89623012 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.*122T>C single nucleotide variant not provided [RCV001540609] Chr16:89557215 [GRCh38]
Chr16:89623623 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+302C>T single nucleotide variant not provided [RCV001583209] Chr16:89532938 [GRCh38]
Chr16:89599346 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.73_80del (p.Pro25fs) deletion Hereditary spastic paraplegia 7 [RCV001647143] Chr16:89508489..89508496 [GRCh38]
Chr16:89574897..89574904 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1324+4086A>G single nucleotide variant not provided [RCV001544738] Chr16:89536722 [GRCh38]
Chr16:89603130 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+148dup duplication not provided [RCV001725103] Chr16:89532772..89532773 [GRCh38]
Chr16:89599180..89599181 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1937-44G>A single nucleotide variant not provided [RCV001586531] Chr16:89553750 [GRCh38]
Chr16:89620158 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3941G>C single nucleotide variant not provided [RCV001725722] Chr16:89536577 [GRCh38]
Chr16:89602985 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001647142] Chr16:89553797 [GRCh38]
Chr16:89620205 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.2:c.1454_1462del deletion Hereditary spastic paraplegia 7 [RCV001810204]|not provided [RCV001663451]   pathogenic
NM_003119.4(SPG7):c.2104-231C>T single nucleotide variant not provided [RCV001546561] Chr16:89554255 [GRCh38]
Chr16:89620663 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3864_1324+3867del deletion not provided [RCV001570568] Chr16:89536499..89536502 [GRCh38]
Chr16:89602907..89602910 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1449+84C>T single nucleotide variant not provided [RCV001567417] Chr16:89544856 [GRCh38]
Chr16:89611264 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1449+55C>G single nucleotide variant not provided [RCV001568018] Chr16:89544827 [GRCh38]
Chr16:89611235 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.847G>A (p.Gly283Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001870698] Chr16:89529565 [GRCh38]
Chr16:89595973 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000798580] Chr16:89544732 [GRCh38]
Chr16:89611140 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000576393]|Hereditary spastic paraplegia [RCV001847730]|not provided [RCV001705869]|not specified [RCV000118410] Chr16:89553920 [GRCh38]
Chr16:89620328 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121650]|not specified [RCV000516941] Chr16:89553006 [GRCh38]
Chr16:89619414 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.376+1G>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000467232]|not provided [RCV000522524] Chr16:89513038 [GRCh38]
Chr16:89579446 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1449+174C>T single nucleotide variant not provided [RCV000839746] Chr16:89544946 [GRCh38]
Chr16:89611354 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1739TGG[1] (p.Val581del) microsatellite Hereditary spastic paraplegia 7 [RCV000007216] Chr16:89550569..89550571 [GRCh38]
Chr16:89616977..89616979 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1936+12C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000335399]|not specified [RCV000128207] Chr16:89553147 [GRCh38]
Chr16:89619555 [GRCh37]
Chr16:16q24.3
benign|likely benign|uncertain significance
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
NM_003119.4(SPG7):c.1191C>G (p.Ala397=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000980497] Chr16:89532503 [GRCh38]
Chr16:89598911 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) duplication Hereditary spastic paraplegia 7 [RCV001760064]|not provided [RCV001091058] Chr16:89556918..89556919 [GRCh38]
Chr16:89623326..89623327 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000551595]|not specified [RCV000615515] Chr16:89548094 [GRCh38]
Chr16:89614502 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.66G>C (p.Leu22=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001119555] Chr16:89508483 [GRCh38]
Chr16:89574891 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1354C>T (p.Leu452=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001119655] Chr16:89544677 [GRCh38]
Chr16:89611085 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640979]|Hereditary spastic paraplegia [RCV000515879]|not provided [RCV000487696] Chr16:89553132 [GRCh38]
Chr16:89619540 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121649] Chr16:89550565 [GRCh38]
Chr16:89616973 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2083C>T (p.Leu695=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000313068] Chr16:89553940 [GRCh38]
Chr16:89620348 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1552+244T>C single nucleotide variant not provided [RCV000829262] Chr16:89547004 [GRCh38]
Chr16:89613412 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+3850T>C single nucleotide variant not provided [RCV000830280] Chr16:89536486 [GRCh38]
Chr16:89602894 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+3852A>G single nucleotide variant not provided [RCV000830797] Chr16:89536488 [GRCh38]
Chr16:89602896 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1663+14G>A single nucleotide variant not specified [RCV000198673] Chr16:89548127 [GRCh38]
Chr16:89614535 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1779+20G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV002054344]|not specified [RCV000199895] Chr16:89550629 [GRCh38]
Chr16:89617037 [GRCh37]
Chr16:16q24.3
benign
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
NM_003119.4(SPG7):c.2373G>A (p.Pro791=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118229] Chr16:89557078 [GRCh38]
Chr16:89623486 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del) deletion Hereditary spastic paraplegia 7 [RCV000806179] Chr16:89553915..89553932 [GRCh38]
Chr16:89620323..89620340 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001865382]|Hereditary spastic paraplegia [RCV000515851]|not provided [RCV000420140] Chr16:89544770 [GRCh38]
Chr16:89611178 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs) indel Hereditary spastic paraplegia 7 [RCV000465046] Chr16:89531961..89531962 [GRCh38]
Chr16:89598369..89598370 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.976_987+3del deletion Hereditary spastic paraplegia 7 [RCV000232876]|not provided [RCV000516566] Chr16:89530794..89530808 [GRCh38]
Chr16:89597202..89597216 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) single nucleotide variant not specified [RCV000517366] Chr16:89512992 [GRCh38]
Chr16:89579400 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.53G>T (p.Gly18Val) single nucleotide variant not specified [RCV000517403] Chr16:89508470 [GRCh38]
Chr16:89574878 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) single nucleotide variant not provided [RCV000519087] Chr16:89529524 [GRCh38]
Chr16:89595932 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1937-2A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV000554743] Chr16:89553792 [GRCh38]
Chr16:89620200 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.9G>A (p.Val3=) single nucleotide variant not provided [RCV000864933] Chr16:89508426 [GRCh38]
Chr16:89574834 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1937-9G>A single nucleotide variant not provided [RCV001722616] Chr16:89553785 [GRCh38]
Chr16:89620193 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1150+19_1150+31del deletion not specified [RCV000607677] Chr16:89532081..89532093 [GRCh38]
Chr16:89598489..89598501 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.618+11_618+68del deletion Hereditary spastic paraplegia 7 [RCV000199523]|not provided [RCV001722104] Chr16:89524250..89524307 [GRCh38]
Chr16:89590658..89590715 [GRCh37]
Chr16:16q24.3
likely pathogenic|benign|likely benign
NM_003119.4(SPG7):c.*24C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV001119768] Chr16:89557117 [GRCh38]
Chr16:89623525 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*99G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001119769] Chr16:89557192 [GRCh38]
Chr16:89623600 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*222G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001119770] Chr16:89557315 [GRCh38]
Chr16:89623723 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.474C>T (p.Leu158=) single nucleotide variant not provided [RCV000864214] Chr16:89524103 [GRCh38]
Chr16:89590511 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.21G>A (p.Leu7=) single nucleotide variant not specified [RCV000616114] Chr16:89508438 [GRCh38]
Chr16:89574846 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.57T>C (p.Pro19=) single nucleotide variant not specified [RCV000616606] Chr16:89508474 [GRCh38]
Chr16:89574882 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2271del (p.Met757fs) deletion Hereditary spastic paraplegia 7 [RCV000625997] Chr16:89556976 [GRCh38]
Chr16:89623384 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.2070del (p.Phe691fs) deletion Hereditary spastic paraplegia 7 [RCV001380103]|not provided [RCV000627617] Chr16:89553924 [GRCh38]
Chr16:89620332 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.308C>A (p.Thr103Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000291284] Chr16:89512969 [GRCh38]
Chr16:89579377 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1812G>A (p.Leu604=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000866643] Chr16:89553011 [GRCh38]
Chr16:89619419 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000686719] Chr16:89531971 [GRCh38]
Chr16:89598379 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.338A>G (p.Lys113Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000695759] Chr16:89512999 [GRCh38]
Chr16:89579407 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000699667] Chr16:89548005 [GRCh38]
Chr16:89614413 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.10:g.(?_89508408)_(89532646_?)dup duplication Hereditary spastic paraplegia 7 [RCV001031461] Chr16:89574816..89599054 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.861+196C>T single nucleotide variant not provided [RCV000838652] Chr16:89529775 [GRCh38]
Chr16:89596183 [GRCh37]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
NM_003119.4(SPG7):c.1305G>T (p.Gln435His) single nucleotide variant not provided [RCV000196196] Chr16:89532617 [GRCh38]
Chr16:89599025 [GRCh37]
Chr16:16q24.3
likely pathogenic|uncertain significance
NM_003119.4(SPG7):c.58C>T (p.Arg20Trp) single nucleotide variant not provided [RCV000197155] Chr16:89508475 [GRCh38]
Chr16:89574883 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) single nucleotide variant not provided [RCV000197458] Chr16:89524153 [GRCh38]
Chr16:89590561 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn) single nucleotide variant not provided [RCV000199491] Chr16:89524041 [GRCh38]
Chr16:89590449 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.862-16T>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV002054343]|not specified [RCV000199800] Chr16:89530667 [GRCh38]
Chr16:89597075 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.473_474del (p.Leu158fs) microsatellite Hereditary spastic paraplegia 7 [RCV000236850]|not provided [RCV001818495] Chr16:89524099..89524100 [GRCh38]
Chr16:89590507..89590508 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.596del (p.Gly199fs) deletion Hereditary spastic paraplegia 7 [RCV001231276] Chr16:89524224 [GRCh38]
Chr16:89590632 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1281G>A (p.Thr427=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001239104] Chr16:89532593 [GRCh38]
Chr16:89599001 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001220525]|not provided [RCV001819912] Chr16:89526449 [GRCh38]
Chr16:89592857 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.759-2A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV001221055]|not provided [RCV001267934] Chr16:89529475 [GRCh38]
Chr16:89595883 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001238182] Chr16:89524207 [GRCh38]
Chr16:89590615 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000804015]|not provided [RCV000713479] Chr16:89532579 [GRCh38]
Chr16:89598987 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3
likely pathogenic
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000168257]|Hereditary spastic paraplegia [RCV001847793]|Mitochondrial disease [RCV000508922]|not provided [RCV000413970] Chr16:89550502 [GRCh38]
Chr16:89616910 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001235362] Chr16:89550586 [GRCh38]
Chr16:89616994 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000989666] Chr16:89553854 [GRCh38]
Chr16:89620262 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1026A>G (p.Pro342=) single nucleotide variant not provided [RCV000874821] Chr16:89531942 [GRCh38]
Chr16:89598350 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1150+17G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001197666] Chr16:89532083 [GRCh38]
Chr16:89598491 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1653C>T (p.Arg551_Val552=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001088894]|Hereditary spastic paraplegia [RCV001847884]|not provided [RCV000756683]|not specified [RCV000196125] Chr16:89548103 [GRCh38]
Chr16:89614511 [GRCh37]
Chr16:16q24.3
benign|uncertain significance
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del) deletion Intellectual disability [RCV000850201]|Spastic ataxia [RCV001003620] Chr16:89553845..89553847 [GRCh38]
Chr16:89620253..89620255 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.40G>A (p.Gly14Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001201656] Chr16:89508457 [GRCh38]
Chr16:89574865 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121554]|not provided [RCV001759888] Chr16:89524195 [GRCh38]
Chr16:89590603 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*341A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121747] Chr16:89557434 [GRCh38]
Chr16:89623842 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1618G>A (p.Val540Met) single nucleotide variant not provided [RCV000415819] Chr16:89548068 [GRCh38]
Chr16:89614476 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.287-280A>G single nucleotide variant not provided [RCV000828649] Chr16:89512668 [GRCh38]
Chr16:89579076 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1775T>G (p.Met592Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000377192] Chr16:89550605 [GRCh38]
Chr16:89617013 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.377-171G>A single nucleotide variant not provided [RCV000829257] Chr16:89523835 [GRCh38]
Chr16:89590243 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1552+205G>A single nucleotide variant not provided [RCV000829261] Chr16:89546965 [GRCh38]
Chr16:89613373 [GRCh37]
Chr16:16q24.3
benign
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258300] Chr16:88755312..89584412 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1324+3865G>C single nucleotide variant not provided [RCV000830646] Chr16:89536501 [GRCh38]
Chr16:89602909 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1664-177C>T single nucleotide variant not provided [RCV000830898] Chr16:89550317 [GRCh38]
Chr16:89616725 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_003119.4(SPG7):c.250T>C (p.Leu84=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000862674]|Hereditary spastic paraplegia [RCV001849162]|not provided [RCV001555487] Chr16:89510556 [GRCh38]
Chr16:89576964 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr) single nucleotide variant not provided [RCV000429046] Chr16:89524074 [GRCh38]
Chr16:89590482 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1639T>G (p.Tyr547Asp) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000385135] Chr16:89548089 [GRCh38]
Chr16:89614497 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001439836]|not provided [RCV000870034]|not specified [RCV000609510] Chr16:89557003 [GRCh38]
Chr16:89623411 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.347C>A (p.Ser116Ter) single nucleotide variant Inborn genetic diseases [RCV000624073] Chr16:89513008 [GRCh38]
Chr16:89579416 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.*362C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000323374] Chr16:89557455 [GRCh38]
Chr16:89623863 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000694919] Chr16:89557070 [GRCh38]
Chr16:89623478 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1049C>A (p.Pro350His) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000703128] Chr16:89531965 [GRCh38]
Chr16:89598373 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1102del (p.Val368fs) deletion Hereditary spastic paraplegia 7 [RCV000778483] Chr16:89532017 [GRCh38]
Chr16:89598425 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000206309]|not provided [RCV000993072] Chr16:89553103 [GRCh38]
Chr16:89619511 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.32T>C (p.Leu11Pro) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001059473] Chr16:89508449 [GRCh38]
Chr16:89574857 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.619-4C>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV001456340]|not provided [RCV000871057] Chr16:89526325 [GRCh38]
Chr16:89592733 [GRCh37]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 copy number loss See cases [RCV000053380] Chr16:88640116..89530475 [GRCh38]
Chr16:88706524..89596883 [GRCh37]
Chr16:87234025..88124384 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
SPG7, 1-BP INS, 2228A insertion Hereditary spastic paraplegia 7 [RCV000007213] Chr16:16q24.3 pathogenic
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000007217] Chr16:89553932 [GRCh38]
Chr16:89620340 [GRCh37]
Chr16:16q24.3
pathogenic
SPG7, 1-BP DEL, 1616C deletion Hereditary spastic paraplegia 7 [RCV000007219] Chr16:16q24.3 pathogenic
GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3 copy number gain See cases [RCV000138278] Chr16:89481626..89665765 [GRCh38]
Chr16:89548034..89732173 [GRCh37]
Chr16:88075535..88259674 [NCBI36]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.988-1G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000206709]|Hereditary spastic paraplegia [RCV001847907] Chr16:89531903 [GRCh38]
Chr16:89598311 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000236261]|Hereditary spastic paraplegia [RCV001847908] Chr16:89553853 [GRCh38]
Chr16:89620261 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.*7G>A single nucleotide variant not specified [RCV000244479] Chr16:89557100 [GRCh38]
Chr16:89623508 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001391423]|not provided [RCV000276524] Chr16:89526389 [GRCh38]
Chr16:89592797 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1493T>C (p.Leu498Pro) single nucleotide variant not provided [RCV000364549] Chr16:89546701 [GRCh38]
Chr16:89613109 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.120G>A (p.Gly40=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000526678]|Hereditary spastic paraplegia [RCV001847769]|not provided [RCV002262748]|not specified [RCV000128214] Chr16:89508537 [GRCh38]
Chr16:89574945 [GRCh37]
Chr16:16q24.3
benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000500664]|Hereditary spastic paraplegia [RCV001847889]|Spastic ataxia [RCV001640295]|not provided [RCV000198819] Chr16:89556933 [GRCh38]
Chr16:89623341 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000989665]|Hereditary spastic paraplegia [RCV001847762]|not provided [RCV000585517]|not specified [RCV000128202] Chr16:89546665 [GRCh38]
Chr16:89613073 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.1664-11C>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121647]|not specified [RCV000128205] Chr16:89550483 [GRCh38]
Chr16:89616891 [GRCh37]
Chr16:16q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2037G>A (p.Ala679_Gln680=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001082373]|Hereditary spastic paraplegia [RCV001847764]|not provided [RCV000713483]|not specified [RCV000128209] Chr16:89553894 [GRCh38]
Chr16:89620302 [GRCh37]
Chr16:16q24.3
benign|uncertain significance
NM_003119.4(SPG7):c.2292C>T (p.Ile764_Asp765=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001080121]|Hereditary spastic paraplegia [RCV001847766]|not provided [RCV000713485]|not specified [RCV000128211] Chr16:89556997 [GRCh38]
Chr16:89623405 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000393347]|not provided [RCV000869510] Chr16:89553940 [GRCh38]
Chr16:89620348 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001086122]|Hereditary spastic paraplegia [RCV001847767]|not provided [RCV000713486]|not specified [RCV000128212] Chr16:89557000 [GRCh38]
Chr16:89623408 [GRCh37]
Chr16:16q24.3
benign|likely benign|uncertain significance
NM_003119.4(SPG7):c.861+5G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000799260]|not provided [RCV000996405] Chr16:89529584 [GRCh38]
Chr16:89595992 [GRCh37]
Chr16:16q24.3
uncertain significance
Single allele single nucleotide variant not provided [RCV001568795] Chr16:89508278 [GRCh38]
Chr16:89574686 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1552+50G>A single nucleotide variant not provided [RCV001550298] Chr16:89546810 [GRCh38]
Chr16:89613218 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1780-94C>T single nucleotide variant not provided [RCV001576688] Chr16:89552885 [GRCh38]
Chr16:89619293 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1553-131C>G single nucleotide variant not provided [RCV001566650] Chr16:89547872 [GRCh38]
Chr16:89614280 [GRCh37]
Chr16:16q24.3
likely benign
Single allele single nucleotide variant not provided [RCV001577778] Chr16:89508295 [GRCh38]
Chr16:89574703 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3861A>G single nucleotide variant not provided [RCV001552270] Chr16:89536497 [GRCh38]
Chr16:89602905 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+272A>G single nucleotide variant not provided [RCV001588192] Chr16:89532908 [GRCh38]
Chr16:89599316 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1151-111A>G single nucleotide variant not provided [RCV001597352] Chr16:89532352 [GRCh38]
Chr16:89598760 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.2098G>A (p.Asp700Asn) single nucleotide variant not provided [RCV001550402] Chr16:89553955 [GRCh38]
Chr16:89620363 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.287-70A>C single nucleotide variant not provided [RCV001561209] Chr16:89512878 [GRCh38]
Chr16:89579286 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.988-235T>G single nucleotide variant not provided [RCV001593550] Chr16:89531669 [GRCh38]
Chr16:89598077 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2181+255C>G single nucleotide variant not provided [RCV001550587] Chr16:89554818 [GRCh38]
Chr16:89621226 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.619-233C>T single nucleotide variant not provided [RCV001556294] Chr16:89526096 [GRCh38]
Chr16:89592504 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+4020A>G single nucleotide variant not provided [RCV001639196] Chr16:89536656 [GRCh38]
Chr16:89603064 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.619-228C>T single nucleotide variant not provided [RCV001556512] Chr16:89526101 [GRCh38]
Chr16:89592509 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.618+170C>T single nucleotide variant not provided [RCV001693459] Chr16:89524417 [GRCh38]
Chr16:89590825 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.286+148C>A single nucleotide variant not provided [RCV001562069] Chr16:89510740 [GRCh38]
Chr16:89577148 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001647144] Chr16:89553829 [GRCh38]
Chr16:89620237 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1663+112C>T single nucleotide variant not provided [RCV001557581] Chr16:89548225 [GRCh38]
Chr16:89614633 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1779+47G>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV001810216]|not provided [RCV001671994] Chr16:89550656 [GRCh38]
Chr16:89617064 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.759-333G>A single nucleotide variant not provided [RCV001563051] Chr16:89529144 [GRCh38]
Chr16:89595552 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3893_1324+3894insAGGTGAGGTGAGGC insertion not provided [RCV001616125] Chr16:89536520..89536521 [GRCh38]
Chr16:89602928..89602929 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+3878T>C single nucleotide variant not provided [RCV001546086] Chr16:89536514 [GRCh38]
Chr16:89602922 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1728G>A (p.Ser576=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV002070386]|Hereditary spastic paraplegia [RCV001847299]|not provided [RCV001531868] Chr16:89550558 [GRCh38]
Chr16:89616966 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGG insertion not provided [RCV001559062] Chr16:89536469..89536470 [GRCh38]
Chr16:89602877..89602878 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1450-75del deletion not provided [RCV001677797] Chr16:89546572 [GRCh38]
Chr16:89612980 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.759-126C>T single nucleotide variant not provided [RCV001673587] Chr16:89529351 [GRCh38]
Chr16:89595759 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+3816GGTGAGGCG[2] microsatellite not provided [RCV001599032] Chr16:89536452..89536460 [GRCh38]
Chr16:89602860..89602868 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.861+321T>C single nucleotide variant not provided [RCV001567133] Chr16:89529900 [GRCh38]
Chr16:89596308 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000235251]|Hereditary spastic paraplegia [RCV001847906]|not provided [RCV000413737] Chr16:89550545 [GRCh38]
Chr16:89616953 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.*97G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000310532] Chr16:89557190 [GRCh38]
Chr16:89623598 [GRCh37]
Chr16:16q24.3
uncertain significance
NC_000016.10:g.(?_89508408)_(89508610_?)del deletion Hereditary spastic paraplegia 7 [RCV000815279] Chr16:89508408..89508610 [GRCh38]
Chr16:89574816..89575018 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.*587G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000281694] Chr16:89557680 [GRCh38]
Chr16:89624088 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258283] Chr16:88643461..89611494 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
NM_003119.4(SPG7):c.*432G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000259542] Chr16:89557525 [GRCh38]
Chr16:89623933 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89273377-89592077)x3 copy number gain See cases [RCV000447317] Chr16:89273377..89592077 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000809791] Chr16:89531964 [GRCh38]
Chr16:89598372 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000469479]|not provided [RCV000591290] Chr16:89510491 [GRCh38]
Chr16:89576899 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1628_1629del (p.Leu543fs) microsatellite Hereditary spastic paraplegia 7 [RCV000472422] Chr16:89548075..89548076 [GRCh38]
Chr16:89614483..89614484 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1929C>T (p.Val643=) single nucleotide variant not specified [RCV000601795] Chr16:89553128 [GRCh38]
Chr16:89619536 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1936+13G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV002066746]|not specified [RCV000614175] Chr16:89553148 [GRCh38]
Chr16:89619556 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) indel Hereditary spastic paraplegia 7 [RCV000640978] Chr16:89529568..89529569 [GRCh38]
Chr16:89595976..89595977 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640980] Chr16:89531983 [GRCh38]
Chr16:89598391 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.759-6C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000868378]|Hereditary spastic paraplegia [RCV001847076] Chr16:89529471 [GRCh38]
Chr16:89595879 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.1720C>T (p.His574Tyr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001053922] Chr16:89550550 [GRCh38]
Chr16:89616958 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.861+2dup duplication Hereditary spastic paraplegia 7 [RCV001060596]|not provided [RCV001548055] Chr16:89529580..89529581 [GRCh38]
Chr16:89595988..89595989 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.3(chr16:89616901-89620368) copy number loss Seizure [RCV000626564] Chr16:89616901..89620368 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1770C>T (p.Ala590_Val591=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001084835]|Hereditary spastic paraplegia [RCV001847763]|not provided [RCV000713481]|not specified [RCV000128206] Chr16:89550600 [GRCh38]
Chr16:89617008 [GRCh37]
Chr16:16q24.3
benign|uncertain significance
NM_003119.4(SPG7):c.416_432del (p.Arg139fs) deletion not provided [RCV000489060] Chr16:89524042..89524058 [GRCh38]
Chr16:89590450..89590466 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
NM_003119.4(SPG7):c.987+19G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001518549]|not specified [RCV000128199] Chr16:89530827 [GRCh38]
Chr16:89597235 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.941T>C (p.Met314Thr) single nucleotide variant not provided [RCV000196674] Chr16:89530762 [GRCh38]
Chr16:89597170 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000198892] Chr16:89550559 [GRCh38]
Chr16:89616967 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000231137] Chr16:89508497 [GRCh38]
Chr16:89574905 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000373621] Chr16:89553828 [GRCh38]
Chr16:89620236 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.1325-8C>G single nucleotide variant not provided [RCV000928751] Chr16:89544640 [GRCh38]
Chr16:89611048 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.663G>A (p.Lys221=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000343162] Chr16:89526373 [GRCh38]
Chr16:89592781 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.619-7C>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121555] Chr16:89526322 [GRCh38]
Chr16:89592730 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121648] Chr16:89550529 [GRCh38]
Chr16:89616937 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_003119.4(SPG7):c.99C>T (p.Phe33=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001433722]|not provided [RCV000975732] Chr16:89508516 [GRCh38]
Chr16:89574924 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1617del (p.Val540fs) deletion Hereditary spastic paraplegia 7 [RCV001855011]|Hereditary spastic paraplegia [RCV001848041]|not provided [RCV000256054] Chr16:89548066 [GRCh38]
Chr16:89614474 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.2180C>T (p.Ala727Val) single nucleotide variant not provided [RCV000416047] Chr16:89554562 [GRCh38]
Chr16:89620970 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2046C>T (p.Gly682=) single nucleotide variant not provided [RCV000884618] Chr16:89553903 [GRCh38]
Chr16:89620311 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1266C>G (p.Ser422=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001485260]|not provided [RCV000930822] Chr16:89532578 [GRCh38]
Chr16:89598986 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.*398G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000379835] Chr16:89557491 [GRCh38]
Chr16:89623899 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*592C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000348309] Chr16:89557685 [GRCh38]
Chr16:89624093 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
GRCh37/hg19 16q24.3(chr16:88985997-89962916)x3 copy number gain See cases [RCV000447971] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1324+4542A>G single nucleotide variant not provided [RCV000844281] Chr16:89537178 [GRCh38]
Chr16:89603586 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:89270660-89638476)x3 copy number gain not provided [RCV001006842] Chr16:89270660..89638476 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.987+5A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV000576601]|not provided [RCV001706335]|not specified [RCV000251593] Chr16:89530813 [GRCh38]
Chr16:89597221 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
NM_003119.4(SPG7):c.444C>T (p.Ile148=) single nucleotide variant not provided [RCV000996403] Chr16:89524073 [GRCh38]
Chr16:89590481 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000810013]|not provided [RCV000996407] Chr16:89531964 [GRCh38]
Chr16:89598372 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001116770]|Hereditary spastic paraplegia [RCV001847163] Chr16:89556930 [GRCh38]
Chr16:89623338 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89273883-89900237)x3 copy number gain not provided [RCV000739305] Chr16:89273883..89900237 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000867765]|not specified [RCV000198210] Chr16:89553108 [GRCh38]
Chr16:89619516 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.483C>T (p.Ser161=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000867347]|not specified [RCV000614334] Chr16:89524112 [GRCh38]
Chr16:89590520 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1553-2_1553-1del deletion Hereditary spastic paraplegia 7 [RCV001391524]|not provided [RCV000484864] Chr16:89548001..89548002 [GRCh38]
Chr16:89614409..89614410 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) single nucleotide variant Cerebral palsy [RCV001794437]|Hereditary spastic paraplegia 7 [RCV000007221]|Hereditary spastic paraplegia [RCV001847595]|not provided [RCV000198037] Chr16:89531961 [GRCh38]
Chr16:89598369 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_003119.4(SPG7):c.1937-16C>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV001522690]|not specified [RCV000128208] Chr16:89553778 [GRCh38]
Chr16:89620186 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1171C>T (p.Arg391Trp) single nucleotide variant not provided [RCV000433930] Chr16:89532483 [GRCh38]
Chr16:89598891 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) single nucleotide variant not provided [RCV000886251]|not specified [RCV000603521] Chr16:89531984 [GRCh38]
Chr16:89598392 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1552+16G>T single nucleotide variant not specified [RCV000608139] Chr16:89546776 [GRCh38]
Chr16:89613184 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000686569] Chr16:89544743 [GRCh38]
Chr16:89611151 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*140G>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000358365]|not provided [RCV001572048] Chr16:89557233 [GRCh38]
Chr16:89623641 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000707135]|not provided [RCV001577546] Chr16:89530719 [GRCh38]
Chr16:89597127 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89416511-89679394)x3 copy number gain not provided [RCV000848840] Chr16:89416511..89679394 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.376+140C>T single nucleotide variant not provided [RCV000837159] Chr16:89513177 [GRCh38]
Chr16:89579585 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.891T>A (p.Ile297=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001058664] Chr16:89530712 [GRCh38]
Chr16:89597120 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs) duplication Hereditary spastic paraplegia 7 [RCV001063502] Chr16:89532481..89532482 [GRCh38]
Chr16:89598889..89598890 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.25C>T (p.Arg9Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001069528] Chr16:89508442 [GRCh38]
Chr16:89574850 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1 copy number loss See cases [RCV000053383] Chr16:89225411..89530534 [GRCh38]
Chr16:89291819..89596942 [GRCh37]
Chr16:87819320..88124443 [NCBI36]
Chr16:16q24.3
pathogenic
SPG7, 2-BP DEL, NT784 deletion Hereditary spastic paraplegia 7 [RCV000007212] Chr16:16q24.3 pathogenic
SPG7, 5.1-KB DEL deletion Hereditary spastic paraplegia 7 [RCV000007220] Chr16:16q24.3 pathogenic
NM_003119.4(SPG7):c.95G>A (p.Gly32Glu) single nucleotide variant not specified [RCV000195712] Chr16:89508512 [GRCh38]
Chr16:89574920 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.703A>G (p.Ile235Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001853200]|not provided [RCV000195778] Chr16:89526413 [GRCh38]
Chr16:89592821 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89495333-89592922)x3 copy number gain See cases [RCV000240399] Chr16:89495333..89592922 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.3(SPG7):c.1553-?_1779+?del deletion Hereditary spastic paraplegia 7 [RCV000240505]   pathogenic
NM_003119.4(SPG7):c.2103+95G>T single nucleotide variant not provided [RCV001556784] Chr16:89554055 [GRCh38]
Chr16:89620463 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.184-300G>C single nucleotide variant not provided [RCV001564798] Chr16:89510190 [GRCh38]
Chr16:89576598 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+185C>T single nucleotide variant not provided [RCV001562927] Chr16:89532821 [GRCh38]
Chr16:89599229 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1552+103C>T single nucleotide variant not provided [RCV001551724] Chr16:89546863 [GRCh38]
Chr16:89613271 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3864T>C single nucleotide variant not provided [RCV001549383] Chr16:89536500 [GRCh38]
Chr16:89602908 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1780-259T>G single nucleotide variant not provided [RCV001558496] Chr16:89552720 [GRCh38]
Chr16:89619128 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+222C>T single nucleotide variant not provided [RCV001570611] Chr16:89532858 [GRCh38]
Chr16:89599266 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+4312G>T single nucleotide variant not provided [RCV001559412] Chr16:89536948 [GRCh38]
Chr16:89603356 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.377-298G>A single nucleotide variant not provided [RCV001553048] Chr16:89523708 [GRCh38]
Chr16:89590116 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.*118A>G single nucleotide variant not provided [RCV001594246] Chr16:89557211 [GRCh38]
Chr16:89623619 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3869T>C single nucleotide variant not provided [RCV001556187] Chr16:89536505 [GRCh38]
Chr16:89602913 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.184-4dup duplication not provided [RCV001587487] Chr16:89510471..89510472 [GRCh38]
Chr16:89576879..89576880 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1779+238A>G single nucleotide variant not provided [RCV001541063] Chr16:89550847 [GRCh38]
Chr16:89617255 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.862-34G>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV001810218]|not provided [RCV001675044] Chr16:89530649 [GRCh38]
Chr16:89597057 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+4109C>A single nucleotide variant not provided [RCV001671853] Chr16:89536745 [GRCh38]
Chr16:89603153 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1450-78C>T single nucleotide variant not provided [RCV001643329] Chr16:89546580 [GRCh38]
Chr16:89612988 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.184-132T>C single nucleotide variant not provided [RCV001717001] Chr16:89510358 [GRCh38]
Chr16:89576766 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.2181+118A>G single nucleotide variant not provided [RCV001590821] Chr16:89554681 [GRCh38]
Chr16:89621089 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu) single nucleotide variant not provided [RCV001663452] Chr16:89508584 [GRCh38]
Chr16:89574992 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.286+46C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV001810208]|not provided [RCV001673887] Chr16:89510638 [GRCh38]
Chr16:89577046 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.988-110C>T single nucleotide variant not provided [RCV001590726] Chr16:89531794 [GRCh38]
Chr16:89598202 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.987+290C>A single nucleotide variant not provided [RCV001656164] Chr16:89531098 [GRCh38]
Chr16:89597506 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.619-115C>T single nucleotide variant not provided [RCV001636067] Chr16:89526214 [GRCh38]
Chr16:89592622 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.2181+235C>G single nucleotide variant not provided [RCV001594360] Chr16:89554798 [GRCh38]
Chr16:89621206 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1937-54A>G single nucleotide variant not provided [RCV001638331] Chr16:89553740 [GRCh38]
Chr16:89620148 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_003119.4(SPG7):c.1967G>A (p.Arg656His) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000812104] Chr16:89553824 [GRCh38]
Chr16:89620232 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.306C>T (p.Asn102=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000381153]|not provided [RCV001539840] Chr16:89512967 [GRCh38]
Chr16:89579375 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.2103+8G>A single nucleotide variant not specified [RCV000419508] Chr16:89553968 [GRCh38]
Chr16:89620376 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2103+7C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV002063446]|not specified [RCV000429942] Chr16:89553967 [GRCh38]
Chr16:89620375 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2143G>A (p.Glu715Lys) single nucleotide variant not provided [RCV000478651] Chr16:89554525 [GRCh38]
Chr16:89620933 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1014C>T (p.Gly338=) single nucleotide variant not specified [RCV000599948] Chr16:89531930 [GRCh38]
Chr16:89598338 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.204A>G (p.Leu68=) single nucleotide variant not specified [RCV000600284] Chr16:89510510 [GRCh38]
Chr16:89576918 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2178G>A (p.Gln726=) single nucleotide variant not specified [RCV000604811] Chr16:89554560 [GRCh38]
Chr16:89620968 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1197C>T (p.Ala399=) single nucleotide variant not provided [RCV000865851] Chr16:89532509 [GRCh38]
Chr16:89598917 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1937-15G>A single nucleotide variant not specified [RCV000610460] Chr16:89553779 [GRCh38]
Chr16:89620187 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.861+1G>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640981] Chr16:89529580 [GRCh38]
Chr16:89595988 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000765319]|Hereditary spastic paraplegia [RCV001847887]|not provided [RCV000198775] Chr16:89510526 [GRCh38]
Chr16:89576934 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.861+6T>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV001039955] Chr16:89529585 [GRCh38]
Chr16:89595993 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.184-4T>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV000870048] Chr16:89510486 [GRCh38]
Chr16:89576894 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1911A>T (p.Ala637=) single nucleotide variant not provided [RCV000896549] Chr16:89553110 [GRCh38]
Chr16:89619518 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q24.3(chr16:89548492-89607414)x1 copy number loss not provided [RCV001006847] Chr16:89548492..89607414 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
SPG7, 9.5-KB DEL deletion Hereditary spastic paraplegia 7 [RCV000007214] Chr16:16q24.3 pathogenic
NM_003119.4(SPG7):c.2189del (p.Asn730fs) deletion not provided [RCV000195477] Chr16:89556892 [GRCh38]
Chr16:89623300 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1324+4173C>T single nucleotide variant not specified [RCV000199673] Chr16:89536809 [GRCh38]
Chr16:89603217 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) single nucleotide variant not provided [RCV001722097] Chr16:89513008 [GRCh38]
Chr16:89579416 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000200425]|not provided [RCV001562435] Chr16:89553853 [GRCh38]
Chr16:89620261 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 16q24.3(chr16:89623304-89624182)x3 copy number gain See cases [RCV000240270] Chr16:89623304..89624182 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001497050]|not provided [RCV001589258]|not specified [RCV000247647] Chr16:89550594 [GRCh38]
Chr16:89617002 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1450-16C>T single nucleotide variant not specified [RCV000249768] Chr16:89546642 [GRCh38]
Chr16:89613050 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1422C>T (p.His474=) single nucleotide variant Hereditary spastic paraplegia [RCV001848025]|not provided [RCV001528894]|not specified [RCV000253214] Chr16:89544745 [GRCh38]
Chr16:89611153 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.*33C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000271636]|not provided [RCV001618564] Chr16:89557126 [GRCh38]
Chr16:89623534 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) single nucleotide variant not provided [RCV000199550] Chr16:89548036 [GRCh38]
Chr16:89614444 [GRCh37]
Chr16:16q24.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1449+5G>C single nucleotide variant not provided [RCV000488361] Chr16:89544777 [GRCh38]
Chr16:89611185 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1552+231C>T single nucleotide variant not provided [RCV000839747] Chr16:89546991 [GRCh38]
Chr16:89613399 [GRCh37]
Chr16:16q24.3
benign
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000205405]|not provided [RCV000585273] Chr16:89553805 [GRCh38]
Chr16:89620213 [GRCh37]
Chr16:16q24.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Single allele duplication not provided [RCV000677990] Chr16:89495333..89592922 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001085115]|Hereditary spastic paraplegia [RCV001847819]|not provided [RCV000724712]|not specified [RCV000195569] Chr16:89531999 [GRCh38]
Chr16:89598407 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16q24.3(chr16:89339007-89534853)x1 copy number loss See cases [RCV000143690] Chr16:89339007..89534853 [GRCh38]
Chr16:89405415..89601261 [GRCh37]
Chr16:87932916..88128762 [NCBI36]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.86G>A (p.Trp29Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000800813]|not provided [RCV001662829] Chr16:89508503 [GRCh38]
Chr16:89574911 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.*195C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000266010]|not provided [RCV001590955] Chr16:89557288 [GRCh38]
Chr16:89623696 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
SPG7, 2-BP DEL, 1-BP INS, 850 indel Hereditary spastic paraplegia 7 [RCV000007215] Chr16:16q24.3 pathogenic
NM_003119.4(SPG7):c.1A>G (p.Met1Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001852108]|not provided [RCV000173302] Chr16:89508418 [GRCh38]
Chr16:89574826 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000196592] Chr16:89544731 [GRCh38]
Chr16:89611139 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1242C>G (p.Gly414=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001476783]|not provided [RCV000229746] Chr16:89532554 [GRCh38]
Chr16:89598962 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000236780]|Hereditary spastic paraplegia [RCV001847905] Chr16:89556954 [GRCh38]
Chr16:89623362 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1449+19G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001510312]|not provided [RCV001707589]|not specified [RCV000245007] Chr16:89544791 [GRCh38]
Chr16:89611199 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.*490CA[3] microsatellite Spastic Paraplegia, Recessive [RCV000317158] Chr16:89557582..89557583 [GRCh38]
Chr16:89623990..89623991 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000815054]|not provided [RCV002272368] Chr16:89553823 [GRCh38]
Chr16:89620231 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001391430]|not provided [RCV000579008] Chr16:89544692 [GRCh38]
Chr16:89611100 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.516C>T (p.His172=) single nucleotide variant Hereditary spastic paraplegia [RCV001848991]|not specified [RCV000607127] Chr16:89524145 [GRCh38]
Chr16:89590553 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.1151-8C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV002060744]|Hereditary spastic paraplegia [RCV001849015]|not provided [RCV000640985] Chr16:89532455 [GRCh38]
Chr16:89598863 [GRCh37]
Chr16:16q24.3
benign|uncertain significance
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000798049] Chr16:89553816 [GRCh38]
Chr16:89620224 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2104-24del deletion not provided [RCV000835319] Chr16:89554462 [GRCh38]
Chr16:89620870 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1523G>A (p.Arg508His) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000691791]|Hereditary spastic paraplegia [RCV001849056] Chr16:89546731 [GRCh38]
Chr16:89613139 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.987+57C>T single nucleotide variant not provided [RCV000836061] Chr16:89530865 [GRCh38]
Chr16:89597273 [GRCh37]
Chr16:16q24.3
likely benign
NC_000016.9:g.(?_89576878)_(89579465_?)dup duplication Hereditary spastic paraplegia 7 [RCV000708371] Chr16:89510470..89513057 [GRCh38]
Chr16:89576878..89579465 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.2014G>C (p.Gly672Arg) single nucleotide variant not provided [RCV000713482] Chr16:89553871 [GRCh38]
Chr16:89620279 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.862-8C>A single nucleotide variant not provided [RCV000713487] Chr16:89530675 [GRCh38]
Chr16:89597083 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000276883]|Hereditary spastic paraplegia [RCV001848059]|not provided [RCV000725648] Chr16:89526347 [GRCh38]
Chr16:89592755 [GRCh37]
Chr16:16q24.3
pathogenic|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.773_774del (p.Val258fs) microsatellite Hereditary spastic paraplegia 7 [RCV000989664]|Hereditary spastic paraplegia [RCV000615294] Chr16:89529489..89529490 [GRCh38]
Chr16:89595899..89595900 [GRCh37]
Chr16:16q24.3
pathogenic
NG_008082.1:g.50400del deletion Hereditary spastic paraplegia 7 [RCV001860602]|not provided [RCV001009230] Chr16:89553793 [GRCh38]
Chr16:89620201 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu) single nucleotide variant not provided [RCV000993073] Chr16:89553883 [GRCh38]
Chr16:89620291 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.318G>A (p.Leu106=) single nucleotide variant not provided [RCV000842123] Chr16:89512979 [GRCh38]
Chr16:89579387 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000007222]|not provided [RCV000996411] Chr16:89550579 [GRCh38]
Chr16:89616987 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1325-6C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000474127]|not specified [RCV000434380] Chr16:89544642 [GRCh38]
Chr16:89611050 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1005C>T (p.Leu335=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001466772]|not provided [RCV000978071] Chr16:89531921 [GRCh38]
Chr16:89598329 [GRCh37]
Chr16:16q24.3
likely benign
NC_000016.10:g.(?_89510480)_(89513047_?)del deletion Hereditary spastic paraplegia 7 [RCV001031651] Chr16:89576888..89579455 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.376+105G>T single nucleotide variant not provided [RCV000837158] Chr16:89513142 [GRCh38]
Chr16:89579550 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.228C>T (p.Asn76=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001450138]|not provided [RCV000869787] Chr16:89510534 [GRCh38]
Chr16:89576942 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1254C>T (p.Ser418=) single nucleotide variant not provided [RCV000916253] Chr16:89532566 [GRCh38]
Chr16:89598974 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000576853]|Hereditary spastic paraplegia [RCV001847729]|not provided [RCV001705868]|not specified [RCV000118409] Chr16:89546715 [GRCh38]
Chr16:89613123 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.817C>T (p.Arg273Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000396981] Chr16:89529535 [GRCh38]
Chr16:89595943 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1275C>T (p.Ser425=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000863512] Chr16:89532587 [GRCh38]
Chr16:89598995 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1656C>T (p.Val552=) single nucleotide variant not provided [RCV001720104] Chr16:89548106 [GRCh38]
Chr16:89614514 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1890G>A (p.Leu630=) single nucleotide variant not specified [RCV000423475] Chr16:89553089 [GRCh38]
Chr16:89619497 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.9G>T (p.Val3=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000552044]|Hereditary spastic paraplegia [RCV001847768]|not provided [RCV001529839]|not specified [RCV000128213] Chr16:89508426 [GRCh38]
Chr16:89574834 [GRCh37]
Chr16:16q24.3
benign|likely benign|uncertain significance
NM_003119.4(SPG7):c.1961T>C (p.Val654Ala) single nucleotide variant not provided [RCV000761969] Chr16:89553818 [GRCh38]
Chr16:89620226 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000817246]|Hereditary spastic paraplegia [RCV001847886]|not provided [RCV001722098]|not specified [RCV000197390] Chr16:89508421 [GRCh38]
Chr16:89574829 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000205153] Chr16:89526366 [GRCh38]
Chr16:89592774 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_003119.4(SPG7):c.818G>A (p.Arg273His) single nucleotide variant Spastic ataxia [RCV001644887]|not provided [RCV000996404] Chr16:89529536 [GRCh38]
Chr16:89595944 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1324+4A>T single nucleotide variant not provided [RCV000996408] Chr16:89532640 [GRCh38]
Chr16:89599048 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001499192]|not provided [RCV000996410]|not specified [RCV001664597] Chr16:89548049 [GRCh38]
Chr16:89614457 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.2271G>A (p.Met757Ile) single nucleotide variant not provided [RCV000996414] Chr16:89556976 [GRCh38]
Chr16:89623384 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1295C>T (p.Thr432Met) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000401582] Chr16:89532607 [GRCh38]
Chr16:89599015 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000697812]|Hereditary spastic paraplegia [RCV001847888]|not provided [RCV000198266] Chr16:89550505 [GRCh38]
Chr16:89616913 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu) single nucleotide variant not specified [RCV000198389] Chr16:89557016 [GRCh38]
Chr16:89623424 [GRCh37]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q24.3(chr16:89405415-89607414)x1 copy number loss See cases [RCV000511022] Chr16:89405415..89607414 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.*656G>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV000386476] Chr16:89557749 [GRCh38]
Chr16:89624157 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.377-8C>T single nucleotide variant not specified [RCV000606812] Chr16:89523998 [GRCh38]
Chr16:89590406 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640976] Chr16:89548104 [GRCh38]
Chr16:89614512 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640982]|not provided [RCV000195598] Chr16:89524042 [GRCh38]
Chr16:89590450 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640984] Chr16:89553871 [GRCh38]
Chr16:89620279 [GRCh37]
Chr16:16q24.3
likely pathogenic|uncertain significance
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000685262]|not provided [RCV002261171] Chr16:89532525 [GRCh38]
Chr16:89598933 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1257C>G (p.Thr419=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118115] Chr16:89532569 [GRCh38]
Chr16:89598977 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2370G>A (p.Glu790=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118228]|not provided [RCV001530872] Chr16:89557075 [GRCh38]
Chr16:89623483 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258358] Chr16:89475451..89652148 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1324+308G>T single nucleotide variant not provided [RCV000829066] Chr16:89532944 [GRCh38]
Chr16:89599352 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.161A>G (p.Glu54Gly) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000791714] Chr16:89508578 [GRCh38]
Chr16:89574986 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.758+322C>T single nucleotide variant not provided [RCV000830318] Chr16:89526790 [GRCh38]
Chr16:89593198 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.2104-2A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV000786074] Chr16:89554484 [GRCh38]
Chr16:89620892 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.360G>C (p.Ala120=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001423735]|not provided [RCV000868592] Chr16:89513021 [GRCh38]
Chr16:89579429 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001035268] Chr16:89548051 [GRCh38]
Chr16:89614459 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001037124] Chr16:89554513 [GRCh38]
Chr16:89620921 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1936+154G>T single nucleotide variant not provided [RCV000837201] Chr16:89553289 [GRCh38]
Chr16:89619697 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) microsatellite Hereditary spastic paraplegia 7 [RCV001047862]|not provided [RCV001569278] Chr16:89510538..89510540 [GRCh38]
Chr16:89576946..89576948 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
NM_003119.4(SPG7):c.183+7C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV001119556] Chr16:89508607 [GRCh38]
Chr16:89575015 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1664-344T>C single nucleotide variant not provided [RCV000826261] Chr16:89550150 [GRCh38]
Chr16:89616558 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.222G>T (p.Gly74=) single nucleotide variant not provided [RCV000585188] Chr16:89510528 [GRCh38]
Chr16:89576936 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.758+316A>G single nucleotide variant not provided [RCV000832529] Chr16:89526784 [GRCh38]
Chr16:89593192 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3861del deletion not provided [RCV000832544] Chr16:89536497 [GRCh38]
Chr16:89602905 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000205117]|not provided [RCV000413637] Chr16:89553941 [GRCh38]
Chr16:89620349 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) single nucleotide variant not specified [RCV000424051] Chr16:89510550 [GRCh38]
Chr16:89576958 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1593C>T (p.His531=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001446058]|not provided [RCV001200611] Chr16:89548043 [GRCh38]
Chr16:89614451 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1953G>A (p.Leu651=) single nucleotide variant not specified [RCV000427495] Chr16:89553810 [GRCh38]
Chr16:89620218 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.618+15G>A single nucleotide variant not specified [RCV000431613] Chr16:89524262 [GRCh38]
Chr16:89590670 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) single nucleotide variant not provided [RCV001720125] Chr16:89556955 [GRCh38]
Chr16:89623363 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+4187C>T single nucleotide variant not provided [RCV001726164]|not specified [RCV000438929] Chr16:89536823 [GRCh38]
Chr16:89603231 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1760A>C (p.His587Pro) single nucleotide variant not provided [RCV000441326] Chr16:89550590 [GRCh38]
Chr16:89616998 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.932T>A (p.Val311Glu) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000461245] Chr16:89530753 [GRCh38]
Chr16:89597161 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2142C>T (p.Thr714=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001439834]|not provided [RCV000465167] Chr16:89554524 [GRCh38]
Chr16:89620932 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121553] Chr16:89524146 [GRCh38]
Chr16:89590554 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*441T>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121748] Chr16:89557534 [GRCh38]
Chr16:89623942 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.*483A>G single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121749] Chr16:89557576 [GRCh38]
Chr16:89623984 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*549A>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121750] Chr16:89557642 [GRCh38]
Chr16:89624050 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.184-235G>A single nucleotide variant not provided [RCV000829251] Chr16:89510255 [GRCh38]
Chr16:89576663 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.287-233G>A single nucleotide variant not provided [RCV000829256] Chr16:89512715 [GRCh38]
Chr16:89579123 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.144T>G (p.Pro48=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000536848] Chr16:89508561 [GRCh38]
Chr16:89574969 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.377-6G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000553416] Chr16:89524000 [GRCh38]
Chr16:89590408 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.377-24C>T single nucleotide variant not provided [RCV001548305] Chr16:89523982 [GRCh38]
Chr16:89590390 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3842_1324+3850del deletion not provided [RCV001588647] Chr16:89536478..89536486 [GRCh38]
Chr16:89602886..89602894 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+10C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV001085222]|Hereditary spastic paraplegia [RCV001847761]|not provided [RCV000713480]|not specified [RCV000128201] Chr16:89532646 [GRCh38]
Chr16:89599054 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) deletion Hereditary spastic paraplegia 7 [RCV000528473]|not provided [RCV000996413] Chr16:89554495..89554511 [GRCh38]
Chr16:89620903..89620919 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.1663+13C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000272278]|not specified [RCV000128203] Chr16:89548126 [GRCh38]
Chr16:89614534 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_003119.4(SPG7):c.861+119C>T single nucleotide variant not provided [RCV001616937] Chr16:89529698 [GRCh38]
Chr16:89596106 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1884G>A (p.Met628Ile) single nucleotide variant not provided [RCV000761968] Chr16:89553083 [GRCh38]
Chr16:89619491 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1552+1G>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000995648]|Hereditary spastic paraplegia [RCV001847130]|not provided [RCV001091056] Chr16:89546761 [GRCh38]
Chr16:89613169 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) single nucleotide variant not provided [RCV000197084] Chr16:89548093 [GRCh38]
Chr16:89614501 [GRCh37]
Chr16:16q24.3
likely pathogenic|uncertain significance
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001233181]|Hereditary spastic paraplegia [RCV001847891]|not provided [RCV000197553] Chr16:89550557 [GRCh38]
Chr16:89616965 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001391422]|Polyneuropathy [RCV000850308] Chr16:89508504 [GRCh38]
Chr16:89574912 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1638G>A (p.Glu546=) single nucleotide variant not provided [RCV001691225] Chr16:89548088 [GRCh38]
Chr16:89614496 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3845T>C single nucleotide variant not provided [RCV000844279] Chr16:89536481 [GRCh38]
Chr16:89602889 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1596G>A (p.Ala532=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000823549] Chr16:89548046 [GRCh38]
Chr16:89614454 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.13C>T (p.Leu5=) single nucleotide variant not provided [RCV000996400] Chr16:89508430 [GRCh38]
Chr16:89574838 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1929C>A (p.Val643=) single nucleotide variant not provided [RCV000996412] Chr16:89553128 [GRCh38]
Chr16:89619536 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000824124] Chr16:89556977 [GRCh38]
Chr16:89623385 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.618+12T>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV000602079]|not provided [RCV001711559]|not specified [RCV000247833] Chr16:89524259 [GRCh38]
Chr16:89590667 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1450-75C>A single nucleotide variant not provided [RCV001590232] Chr16:89546583 [GRCh38]
Chr16:89612991 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.199C>T (p.Leu67=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000860664]|Hereditary spastic paraplegia [RCV001847883]|not provided [RCV001815248]|not specified [RCV000197807] Chr16:89510505 [GRCh38]
Chr16:89576913 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
NM_003119.4(SPG7):c.734A>G (p.Tyr245Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001116670] Chr16:89526444 [GRCh38]
Chr16:89592852 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.763C>T (p.Leu255=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001116671] Chr16:89529481 [GRCh38]
Chr16:89595889 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.297C>A (p.Phe99Leu) single nucleotide variant not provided [RCV000996401] Chr16:89512958 [GRCh38]
Chr16:89579366 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1327A>G (p.Met443Val) single nucleotide variant not provided [RCV000996409] Chr16:89544650 [GRCh38]
Chr16:89611058 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
NM_003119.4(SPG7):c.2041G>C (p.Glu681Gln) single nucleotide variant not provided [RCV000196950] Chr16:89553898 [GRCh38]
Chr16:89620306 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001085449]|Hereditary spastic paraplegia [RCV001847885]|not provided [RCV000713484]|not specified [RCV000197208] Chr16:89556893 [GRCh38]
Chr16:89623301 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118113] Chr16:89532484 [GRCh38]
Chr16:89598892 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001228310]|Hereditary spastic paraplegia [RCV001847152]|not provided [RCV001090550] Chr16:89526348 [GRCh38]
Chr16:89592756 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.619-47G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001810178]|not provided [RCV001643931] Chr16:89526282 [GRCh38]
Chr16:89592690 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.377-245_377-244insTCTCA insertion not provided [RCV001725097] Chr16:89523760..89523761 [GRCh38]
Chr16:89590168..89590169 [GRCh37]
Chr16:16q24.3
benign
Single allele single nucleotide variant not provided [RCV001714274] Chr16:89508277 [GRCh38]
Chr16:89574685 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1552+65A>C single nucleotide variant not provided [RCV001714275] Chr16:89546825 [GRCh38]
Chr16:89613233 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.988-115G>A single nucleotide variant not provided [RCV001545396] Chr16:89531789 [GRCh38]
Chr16:89598197 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2106A>G (p.Glu702=) single nucleotide variant not provided [RCV001586941] Chr16:89554488 [GRCh38]
Chr16:89620896 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q24.3(chr16:89620873-89881041) copy number loss Fanconi anemia complementation group A [RCV001535965] Chr16:89620873..89881041 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1779+69G>A single nucleotide variant not provided [RCV001568002] Chr16:89550678 [GRCh38]
Chr16:89617086 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.286+218G>A single nucleotide variant not provided [RCV001582107] Chr16:89510810 [GRCh38]
Chr16:89577218 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1324+3841dup duplication not provided [RCV001690700] Chr16:89536476..89536477 [GRCh38]
Chr16:89602884..89602885 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001847308]|not provided [RCV001585089] Chr16:89531970 [GRCh38]
Chr16:89598378 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.*106A>G single nucleotide variant not provided [RCV001547613] Chr16:89557199 [GRCh38]
Chr16:89623607 [GRCh37]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
NM_003119.4(SPG7):c.33C>T (p.Leu11=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001411251]|not provided [RCV000875038] Chr16:89508450 [GRCh38]
Chr16:89574858 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) single nucleotide variant not provided [RCV000512694] Chr16:89524017 [GRCh38]
Chr16:89590425 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) duplication Hereditary spastic paraplegia 7 [RCV000194085]|Mitochondrial disease [RCV000508824]|not provided [RCV000199034] Chr16:89529575..89529576 [GRCh38]
Chr16:89595983..89595984 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_003119.4(SPG7):c.2103+2_2103+20del deletion Hereditary spastic paraplegia 7 [RCV001235713] Chr16:89553962..89553980 [GRCh38]
Chr16:89620370..89620388 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1740G>A (p.Leu580=) single nucleotide variant not provided [RCV000875651] Chr16:89550570 [GRCh38]
Chr16:89616978 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1092G>A (p.Thr364=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001473208]|not provided [RCV000876097] Chr16:89532008 [GRCh38]
Chr16:89598416 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2183T>G (p.Leu728Arg) single nucleotide variant not provided [RCV000993074] Chr16:89556888 [GRCh38]
Chr16:89623296 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.934dup (p.Ala312fs) duplication Hereditary spastic paraplegia 7 [RCV001201827]|not provided [RCV001289255] Chr16:89530753..89530754 [GRCh38]
Chr16:89597161..89597162 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001542601]|Hereditary spastic paraplegia [RCV001847187]|not provided [RCV001200106] Chr16:89553093 [GRCh38]
Chr16:89619501 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|uncertain significance
NM_003119.4(SPG7):c.618+14C>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV000396965] Chr16:89524261 [GRCh38]
Chr16:89590669 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NC_000016.10:g.(?_89529457)_(89529599_?)del deletion Hereditary spastic paraplegia 7 [RCV000708319] Chr16:89529457..89529599 [GRCh38]
Chr16:89595865..89596007 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.*11T>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000363868] Chr16:89557104 [GRCh38]
Chr16:89623512 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.881G>A (p.Arg294His) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001001627]|not provided [RCV000713488]|not specified [RCV000128198] Chr16:89530702 [GRCh38]
Chr16:89597110 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1779+5G>C single nucleotide variant Spastic paraplegia [RCV000850329] Chr16:89550614 [GRCh38]
Chr16:89617022 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.184-4del deletion not provided [RCV001704832] Chr16:89510472 [GRCh38]
Chr16:89576880 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1266C>T (p.Ser422=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118116] Chr16:89532578 [GRCh38]
Chr16:89598986 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000274144]|not specified [RCV000419596] Chr16:89544682 [GRCh38]
Chr16:89611090 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2283G>A (p.Gln761=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118227] Chr16:89556988 [GRCh38]
Chr16:89623396 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.19C>A (p.Leu7Met) single nucleotide variant not provided [RCV001090548] Chr16:89508436 [GRCh38]
Chr16:89574844 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Distal spinal muscular atrophy [RCV000664257]|Dysarthria [RCV000626835]|Hereditary spastic paraplegia 7 [RCV000475192]|Hereditary spastic paraplegia [RCV000516115]|Inborn genetic diseases [RCV000622361]|Seizure [RCV000626836]|not provided [RCV000479409] Chr16:89546657..89546665 [GRCh38]
Chr16:89613065..89613073 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) single nucleotide variant not provided [RCV000200130] Chr16:89554486 [GRCh38]
Chr16:89620894 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1771G>A (p.Val591Met) single nucleotide variant not provided [RCV000200868] Chr16:89550601 [GRCh38]
Chr16:89617009 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001196946]|not provided [RCV001090549] Chr16:89508599 [GRCh38]
Chr16:89575007 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) single nucleotide variant not provided [RCV000494238] Chr16:89530686 [GRCh38]
Chr16:89597094 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) single nucleotide variant not provided [RCV000494280] Chr16:89532510 [GRCh38]
Chr16:89598918 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) single nucleotide variant Hereditary spastic paraplegia [RCV000516119]|not provided [RCV001310348] Chr16:89544765 [GRCh38]
Chr16:89611173 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001066395]|not provided [RCV000520300] Chr16:89553130 [GRCh38]
Chr16:89619538 [GRCh37]
Chr16:16q24.3
likely pathogenic|uncertain significance
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001062199]|Hereditary spastic paraplegia [RCV001848911]|not provided [RCV000521089] Chr16:89553796 [GRCh38]
Chr16:89620204 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001643206]|not provided [RCV000490105] Chr16:89532543 [GRCh38]
Chr16:89598951 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2254C>G (p.His752Asp) single nucleotide variant not provided [RCV001815338] Chr16:89556959 [GRCh38]
Chr16:89623367 [GRCh37]
Chr16:16q24.3
likely pathogenic|uncertain significance
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001233635] Chr16:89508493 [GRCh38]
Chr16:89574901 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001858835]|not provided [RCV000996402] Chr16:89513034 [GRCh38]
Chr16:89579442 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000007218]|Hereditary spastic paraplegia [RCV001847594]|Proximal spinal muscular atrophy [RCV000664258]|not provided [RCV000200640] Chr16:89510539 [GRCh38]
Chr16:89576947 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000227318]|Hereditary spastic paraplegia [RCV001847890]|not provided [RCV000766856]|not specified [RCV000200735] Chr16:89556980 [GRCh38]
Chr16:89623388 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.1149A>T (p.Gly383=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118112] Chr16:89532065 [GRCh38]
Chr16:89598473 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1236G>A (p.Ala412=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118114] Chr16:89532548 [GRCh38]
Chr16:89598956 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2274C>T (p.Ile758=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001118226] Chr16:89556979 [GRCh38]
Chr16:89623387 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) deletion Hereditary spastic paraplegia 7 [RCV000585677]|not provided [RCV000996406] Chr16:89531961..89531989 [GRCh38]
Chr16:89598369..89598397 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_003119.4(SPG7):c.759-162G>A single nucleotide variant not provided [RCV000829258] Chr16:89529315 [GRCh38]
Chr16:89595723 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+197C>T single nucleotide variant not provided [RCV000829259] Chr16:89532833 [GRCh38]
Chr16:89599241 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.1324+3884C>G single nucleotide variant not provided [RCV000829260] Chr16:89536520 [GRCh38]
Chr16:89602928 [GRCh37]
Chr16:16q24.3
likely benign
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258457] Chr16:88630607..89607742 [GRCh37]
Chr16:16q24.2-24.3
pathogenic
NM_003119.4(SPG7):c.1324+3855T>C single nucleotide variant not provided [RCV000830642] Chr16:89536491 [GRCh38]
Chr16:89602899 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.758+294C>T single nucleotide variant not provided [RCV000832431] Chr16:89526762 [GRCh38]
Chr16:89593170 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2182-18T>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV002059935]|not specified [RCV000418184] Chr16:89556869 [GRCh38]
Chr16:89623277 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1553-6T>G single nucleotide variant not specified [RCV000442475] Chr16:89547997 [GRCh38]
Chr16:89614405 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.2096dup (p.Met699fs) duplication Hereditary spastic paraplegia 7 [RCV000460135]|not provided [RCV000489898] Chr16:89553952..89553953 [GRCh38]
Chr16:89620360..89620361 [GRCh37]
Chr16:16q24.3
pathogenic|conflicting interpretations of pathogenicity
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) duplication Hereditary spastic paraplegia 7 [RCV000461092]|Hereditary spastic paraplegia [RCV000824802]|not provided [RCV000627428] Chr16:89531962..89531963 [GRCh38]
Chr16:89598370..89598371 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000501596]|not provided [RCV001662499] Chr16:89531949 [GRCh38]
Chr16:89598357 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2227A>C (p.Ile743Leu) single nucleotide variant not provided [RCV000520263] Chr16:89556932 [GRCh38]
Chr16:89623340 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.558G>C (p.Val186=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000531692] Chr16:89524187 [GRCh38]
Chr16:89590595 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000546430] Chr16:89530804 [GRCh38]
Chr16:89597212 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000548390]|not provided [RCV001289254] Chr16:89532487 [GRCh38]
Chr16:89598895 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640977] Chr16:89524197 [GRCh38]
Chr16:89590605 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2066G>A (p.Arg689His) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000640983] Chr16:89553923 [GRCh38]
Chr16:89620331 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001855358]|not provided [RCV000657638] Chr16:89532504 [GRCh38]
Chr16:89598912 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000389351] Chr16:89508506 [GRCh38]
Chr16:89574914 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr) single nucleotide variant Hereditary spastic paraplegia 7 [RCV000325890] Chr16:89548014 [GRCh38]
Chr16:89614422 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001413865]|not provided [RCV000713478]|not specified [RCV001644782] Chr16:89531969 [GRCh38]
Chr16:89598377 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.861+1G>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV000761358] Chr16:89529580 [GRCh38]
Chr16:89595988 [GRCh37]
Chr16:16q24.3
likely pathogenic
GRCh37/hg19 16q24.3(chr16:89443552-89726484)x3 copy number gain not provided [RCV000845847] Chr16:89443552..89726484 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001036140] Chr16:89553884 [GRCh38]
Chr16:89620292 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001039520]|not provided [RCV000197675] Chr16:89529500 [GRCh38]
Chr16:89595908 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1553-5G>C single nucleotide variant Hereditary spastic paraplegia 7 [RCV001399326]|not provided [RCV000938365] Chr16:89547998 [GRCh38]
Chr16:89614406 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.619-6C>T single nucleotide variant not provided [RCV000869853] Chr16:89526323 [GRCh38]
Chr16:89592731 [GRCh37]
Chr16:16q24.3
likely benign
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) single nucleotide variant Hereditary spastic paraplegia 7 [RCV002056943]|not provided [RCV000175748] Chr16:89510540 [GRCh38]
Chr16:89576948 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.1780-16_1780-14del deletion Hereditary spastic paraplegia 7 [RCV002054345]|Spastic Paraplegia, Recessive [RCV000287344]|not specified [RCV000196325] Chr16:89552962..89552964 [GRCh38]
Chr16:89619370..89619372 [GRCh37]
Chr16:16q24.3
benign|uncertain significance
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001853199]|not specified [RCV000197933] Chr16:89524032 [GRCh38]
Chr16:89590440 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.*524dup duplication Spastic Paraplegia, Recessive [RCV000374122] Chr16:89557616..89557617 [GRCh38]
Chr16:89624024..89624025 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001085526]|not provided [RCV000584949] Chr16:89553029 [GRCh38]
Chr16:89619437 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.2(SPG7):c.1529C>T single nucleotide variant Dysarthria [RCV000626837]|Hereditary spastic paraplegia 7 [RCV000034858]|Hereditary spastic paraplegia [RCV000515835]|Inborn genetic diseases [RCV000623796]|Intellectual disability [RCV000850200]|Optic nerve hypoplasia [RCV000677252]|Spastic Paraplegia, Recessive [RCV000270813]|Spastic ataxia [RCV001003619]|not provided [RCV000195683] Chr16:89546737 [GRCh38]
Chr16:89613145 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001081406]|Hereditary spastic paraplegia [RCV001847760]|not provided [RCV000416207]|not specified [RCV000128200] Chr16:89531948 [GRCh38]
Chr16:89598356 [GRCh37]
Chr16:16q24.3
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.759-4G>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV000874491] Chr16:89529473 [GRCh38]
Chr16:89595881 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1664-15C>A single nucleotide variant Hereditary spastic paraplegia 7 [RCV001121646]|not specified [RCV000128204] Chr16:89550479 [GRCh38]
Chr16:89616887 [GRCh37]
Chr16:16q24.3
benign
NM_003119.4(SPG7):c.2280G>A (p.Pro760_Gln761=) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001000211]|Hereditary spastic paraplegia [RCV001847765]|not specified [RCV000128210] Chr16:89556985 [GRCh38]
Chr16:89623393 [GRCh37]
Chr16:16q24.3
benign|likely benign|uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q24.3(chr16:88983242-89648778)x3 copy number gain not provided [RCV000683858] Chr16:88983242..89648778 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.152A>T (p.Asp51Val) single nucleotide variant not provided [RCV000993071] Chr16:89508569 [GRCh38]
Chr16:89574977 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.619-3C>G single nucleotide variant not provided [RCV000993075] Chr16:89526326 [GRCh38]
Chr16:89592734 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.164C>A (p.Ala55Asp) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001253297] Chr16:89508581 [GRCh38]
Chr16:89574989 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001260249] Chr16:89553824 [GRCh38]
Chr16:89620232 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 copy number gain not provided [RCV001259286] Chr16:89499489..90125146 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89462149-89586284)x3 copy number gain not provided [RCV001258665] Chr16:89462149..89586284 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001260248] Chr16:89546751 [GRCh38]
Chr16:89613159 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 copy number gain not provided [RCV001258667] Chr16:89156662..90023446 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1867_1870del (p.Phe623fs) deletion not provided [RCV001268121] Chr16:89553064..89553067 [GRCh38]
Chr16:89619472..89619475 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1284G>C (p.Glu428Asp) single nucleotide variant not provided [RCV001310347] Chr16:89532596 [GRCh38]
Chr16:89599004 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val) single nucleotide variant not provided [RCV001575605] Chr16:89532031 [GRCh38]
Chr16:89598439 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1325-302G>A single nucleotide variant not provided [RCV001536661] Chr16:89544346 [GRCh38]
Chr16:89610754 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.1238T>A (p.Val413Glu) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001262387] Chr16:89532550 [GRCh38]
Chr16:89598958 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1324+4273G>T single nucleotide variant Hereditary spastic paraplegia 7 [RCV001336012] Chr16:89536909 [GRCh38]
Chr16:89603317 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001343239] Chr16:89531995 [GRCh38]
Chr16:89598403 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1611C>G (p.His537Gln) single nucleotide variant Hereditary spastic paraplegia 7 [RCV002070133]|not provided [RCV001310349] Chr16:89548061 [GRCh38]
Chr16:89614469 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
NM_003119.4(SPG7):c.2182-795C>G single nucleotide variant not provided [RCV001310352] Chr16:89556092 [GRCh38]
Chr16:89622500 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.930C>T (p.Asp310=) single nucleotide variant not provided [RCV001310346] Chr16:89530751 [GRCh38]
Chr16:89597159 [GRCh37]
Chr16:16q24.3
likely benign
NM_003119.4(SPG7):c.454A>G (p.Met152Val) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001353162]|not provided [RCV002070220] Chr16:89524083 [GRCh38]
Chr16:89590491 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003119.4(SPG7):c.2T>A (p.Met1Lys) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001382565] Chr16:89508419 [GRCh38]
Chr16:89574827 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.39_63del (p.Gly14fs) deletion Hereditary spastic paraplegia 7 [RCV001391421] Chr16:89508452..89508476 [GRCh38]
Chr16:89574860..89574884 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.392G>A (p.Arg131His) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001360768] Chr16:89524021 [GRCh38]
Chr16:89590429 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter) single nucleotide variant Hereditary spastic paraplegia 7 [RCV001391519] Chr16:89546679 [GRCh38]
Chr16:89613087 [GRCh37]
Chr16:16q24.3
pathogenic
NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu) indel Hereditary spastic paraplegia 7 [RCV001391521] Chr16:89546736..895